{ "Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome": "ORPHA:166024", "Multiple epiphyseal dysplasia, Al-Gazali type": "ORPHA:166024", "Alexander disease": "ORPHA:58", "AxD": "ORPHA:58", "Multiple epiphyseal dysplasia-miniepiphyses syndrome": "ORPHA:166032", "Alpha-mannosidosis": "ORPHA:61", "Lysosomal alpha-D-mannosidase deficiency": "ORPHA:61", "Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome": "ORPHA:166029", "Metaphyseal chondrodysplasia, Kaitila type": "ORPHA:166038", "Aspartylglucosaminuria": "ORPHA:93", "Aspartylglucosaminidase deficiency": "ORPHA:93", "Brachydactyly-short stature-retinitis pigmentosa syndrome": "ORPHA:166035", "Multiple sulfatase deficiency": "ORPHA:585", "Austin disease": "ORPHA:585", "MSD": "ORPHA:585", "Mucosulfatidosis": "ORPHA:585", "Beta-mannosidosis": "ORPHA:118", "Beta-mannosidase deficiency": "ORPHA:118", "Pontocerebellar hypoplasia type 5": "ORPHA:166068", "Fetal-onset olivopontocerebellar hypoplasia": "ORPHA:166068", "PCH5": "ORPHA:166068", "Canavan disease": "ORPHA:141", "ACY2 deficiency": "ORPHA:141", "Aminoacylase 2 deficiency": "ORPHA:141", "Aspartoacylase deficiency": "ORPHA:141", "Spongy degeneration of the brain": "ORPHA:141", "Pontocerebellar hypoplasia type 4": "ORPHA:166063", "Fatal infantile encephalopathy with olivopontocerebellar hypoplasia": "ORPHA:166063", "Olivopontocerebellar hypoplasia": "ORPHA:166063", "PCH4": "ORPHA:166063", "Von Willebrand disease type 1": "ORPHA:166078", "NON RARE IN EUROPE: Crohn disease": "ORPHA:206", "Pontocerebellar hypoplasia type 6": "ORPHA:166073", "Fatal infantile encephalopathy with mitochondrial respiratory chain defects": "ORPHA:166073", "PCH6": "ORPHA:166073", "Cystinosis": "ORPHA:213", "Protein defect of cystin transport": "ORPHA:213", "Von Willebrand disease type 2A": "ORPHA:166084", "Farber disease": "ORPHA:333", "Acid ceramidase deficiency": "ORPHA:333", "Farber lipogranulomatosis": "ORPHA:333", "Von Willebrand disease type 2": "ORPHA:166081", "Fucosidosis": "ORPHA:349", "Alpha-L-fucosidase deficiency": "ORPHA:349", "Von Willebrand disease type 2M": "ORPHA:166090", "Glycogen storage disease due to acid maltase deficiency": "ORPHA:365", "Alpha-1,4-glucosidase acid deficiency": "ORPHA:365", "GSD due to acid maltase deficiency": "ORPHA:365", "GSD type 2": "ORPHA:365", "GSD type II": "ORPHA:365", "Glycogen storage disease type 2": "ORPHA:365", "Glycogen storage disease type II": "ORPHA:365", "Glycogenosis due to acid maltase deficiency": "ORPHA:365", "Glycogenosis type 2": "ORPHA:365", "Glycogenosis type II": "ORPHA:365", "Pompe disease": "ORPHA:365", "Von Willebrand disease type 2B": "ORPHA:166087", "Glycogen storage disease due to glycogen debranching enzyme deficiency": "ORPHA:366", "Amylo-1,6-glucosidase deficiency": "ORPHA:366", "Cori disease": "ORPHA:366", "Cori-Forbes disease": "ORPHA:366", "Forbes disease": "ORPHA:366", "GDE deficiency": "ORPHA:366", "GSD due to glycogen debranching enzyme deficiency": "ORPHA:366", "GSD type 3": "ORPHA:366", "GSDIII": "ORPHA:366", "Glycogen storage disease type 3": "ORPHA:366", "Glycogen storage disease type III": "ORPHA:366", "Glycogenosis due to glycogen debranching enzyme deficiency": "ORPHA:366", "Glycogenosis type 3": "ORPHA:366", "Glycogenosis type III": "ORPHA:366", "Limit dextrinosis": "ORPHA:366", "Von Willebrand disease type 2N": "ORPHA:166093", "Glycogen storage disease due to muscle glycogen phosphorylase deficiency": "ORPHA:368", "GSD due to muscle glycogen phosphorylase deficiency": "ORPHA:368", "GSD type 5": "ORPHA:368", "GSD type V": "ORPHA:368", "Glycogen storage disease type 5": "ORPHA:368", "Glycogen storage disease type V": "ORPHA:368", "Glycogenosis due to muscle glycogen phosphorylase deficiency": "ORPHA:368", "Glycogenosis type 5": "ORPHA:368", "Glycogenosis type V": "ORPHA:368", "McArdle disease": "ORPHA:368", "Myophosphorylase deficiency": "ORPHA:368", "Von Willebrand disease type 3": "ORPHA:166096", "Glycogen storage disease due to glycogen branching enzyme deficiency": "ORPHA:367", "Amylopectinosis": "ORPHA:367", "Andersen disease": "ORPHA:367", "GSD due to glycogen branching enzyme deficiency": "ORPHA:367", "GSD type 4": "ORPHA:367", "GSD type IV": "ORPHA:367", "Glycogen storage disease type 4": "ORPHA:367", "Glycogen storage disease type IV": "ORPHA:367", "Glycogenosis due to glycogen branching enzyme deficiency": "ORPHA:367", "Glycogenosis type 4": "ORPHA:367", "Glycogenosis type IV": "ORPHA:367", "Autosomal dominant otospondylomegaepiphyseal dysplasia": "ORPHA:166100", "AD OSMED": "ORPHA:166100", "Stickler syndrome type 3": "ORPHA:166100", "Stickler syndrome, non-ocular type": "ORPHA:166100", "Glycogen storage disease due to muscle phosphofructokinase deficiency": "ORPHA:371", "GSD due to muscle phosphofructokinase deficiency": "ORPHA:371", "GSD type 7": "ORPHA:371", "GSD type VII": "ORPHA:371", "Glycogen storage disease type 7": "ORPHA:371", "Glycogen storage disease type VII": "ORPHA:371", "Glycogenosis due to muscle phosphofructokinase deficiency": "ORPHA:371", "Glycogenosis type 7": "ORPHA:371", "Glycogenosis type VII": "ORPHA:371", "Tarui disease": "ORPHA:371", "FASTKD2-related infantile mitochondrial encephalomyopathy": "ORPHA:166105", "Glycogen storage disease due to liver glycogen phosphorylase deficiency": "ORPHA:369", "GSD due to liver glycogen phosphorylase deficiency": "ORPHA:369", "GSD type 6": "ORPHA:369", "GSD type VI": "ORPHA:369", "Glycogen storage disease type 6": "ORPHA:369", "Glycogen storage disease type VI": "ORPHA:369", "Glycogenosis due to liver glycogen phosphorylase deficiency": "ORPHA:369", "Glycogenosis type 6": "ORPHA:369", "Glycogenosis type VI": "ORPHA:369", "Hepatic glycogen phosphorylase deficiency": "ORPHA:369", "Hepatic phosphorylase deficiency": "ORPHA:369", "Hers disease": "ORPHA:369", "Liver glycogen phosphorylase deficiency": "ORPHA:369", "Paroxysmal nocturnal hemoglobinuria": "ORPHA:447", "Marchiafava-Micheli disease": "ORPHA:447", "PNH": "ORPHA:447", "Birk-Barel syndrome": "ORPHA:166108", "Birk-Barel Intellectual Disability-Dimorphism syndrome": "ORPHA:166108", "Intellectual disability-hypotonia-facial dysmorphism syndrome": "ORPHA:166108", "KCNK9 imprinting syndrome": "ORPHA:166108", "Bazex syndrome": "ORPHA:166113", "Acrokeratosis of Bazex": "ORPHA:166113", "Acrokeratosis paraneoplastica": "ORPHA:166113", "Acrokeratosis paraneoplastica of Bazex": "ORPHA:166113", "Rare cutaneous lupus erythematosus": "ORPHA:535", "Isolated osteopoikilosis": "ORPHA:166119", "Krabbe disease": "ORPHA:487", "GALC deficiency": "ORPHA:487", "Galactocerebrosidase deficiency": "ORPHA:487", "Galactosylceramidase deficiency": "ORPHA:487", "Globoid cell leukodystrophy": "ORPHA:487", "Dentinogenesis imperfecta type 2": "ORPHA:166260", "Capdepont teeth": "ORPHA:166260", "DGI-2": "ORPHA:166260", "DI-2": "ORPHA:166260", "Dentinogenesis imperfecta, Shields type 2": "ORPHA:166260", "Dentinogenesis imperfecta type 3": "ORPHA:166265", "Dentinogenesis imperfecta, Shields type 3": "ORPHA:166265", "Mucopolysaccharidosis type 6": "ORPHA:583", "ARSB deficiency": "ORPHA:583", "ASB deficiency": "ORPHA:583", "Arylsulfatase B deficiency": "ORPHA:583", "MPS6": "ORPHA:583", "MPSVI": "ORPHA:583", "Maroteaux-Lamy disease": "ORPHA:583", "Mucopolysaccharidosis type VI": "ORPHA:583", "N-acetylgalactosamine 4-sulfatase deficiency": "ORPHA:583", "Odontochondrodysplasia": "ORPHA:166272", "Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome": "ORPHA:166272", "Goldblatt chondrodysplasia": "ORPHA:166272", "Goldblatt syndrome": "ORPHA:166272", "ODCD": "ORPHA:166272", "Mucolipidosis type II": "ORPHA:576", "I-cell disease": "ORPHA:576", "Mucolipidosis type II alpha/beta": "ORPHA:576", "N-acetylglucosamine 1-phosphotransferase deficiency": "ORPHA:576", "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia": "ORPHA:166277", "Suarez-Stickler syndrome": "ORPHA:166277", "Sialidosis type 1": "ORPHA:812", "Cherry-red spot-myoclonus syndrome": "ORPHA:812", "Lipomucopolysaccharidosis": "ORPHA:812", "Normomorphic sialidosis": "ORPHA:812", "Familial sick sinus syndrome": "ORPHA:166282", "Mucolipidosis type IV": "ORPHA:578", "Porokeratotic eccrine ostial and dermal duct nevus": "ORPHA:166286", "Comedo nevus of the palm": "ORPHA:166286", "Porokeratotic eccrine nevus": "ORPHA:166286", "Mucolipidosis type III": "ORPHA:577", "Pseudo-Hurler polydystrophy": "ORPHA:577", "Dirofilariasis": "ORPHA:166291", "Benign non-familial infantile seizures": "ORPHA:166295", "NON RARE IN EUROPE: Ulcerative colitis": "ORPHA:771", "NON RARE IN EUROPE: Ulcerative proctitis": "ORPHA:771", "NON RARE IN EUROPE: Ulcerative proctosigmoiditis": "ORPHA:771", "Benign infantile focal epilepsy with midline spikes and waves during sleep": "ORPHA:166308", "BIMSE": "ORPHA:166308", "Benign infantile seizures associated with mild gastroenteritis": "ORPHA:166305", "Poliomyelitis": "ORPHA:2912", "Benign partial epilepsy with secondarily generalized seizures in infancy": "ORPHA:166302", "Benign partial epilepsy of infancy with complex partial seizures": "ORPHA:166299", "Sandhoff disease": "ORPHA:796", "Photosensitive epilepsy": "ORPHA:166409", "Scleroderma": "ORPHA:801", "Benign partial infantile seizures": "ORPHA:166311", "Recessive X-linked ichthyosis": "ORPHA:461", "RXLI": "ORPHA:461", "Steroid sulfatase deficiency": "ORPHA:461", "X-linked ichthyosis": "ORPHA:461", "XLI": "ORPHA:461", "Orgasm-induced seizures": "ORPHA:166421", "NON RARE IN EUROPE: Tourette syndrome": "ORPHA:856", "NON RARE IN EUROPE: GTS": "ORPHA:856", "NON RARE IN EUROPE: Gilles de la Tourette syndrome": "ORPHA:856", "NON RARE IN EUROPE: Tourette disease": "ORPHA:856", "Eating reflex epilepsy": "ORPHA:166418", "Eating epilepsy": "ORPHA:166418", "Eating seizures": "ORPHA:166418", "Audiogenic seizures": "ORPHA:166415", "Mucopolysaccharidosis type 7": "ORPHA:584", "Beta-glucuronidase deficiency": "ORPHA:584", "MPS7": "ORPHA:584", "MPSVII": "ORPHA:584", "Mucopolysaccharidosis type VII": "ORPHA:584", "Sly disease": "ORPHA:584", "NON RARE IN EUROPE: Ankylosing spondylitis": "ORPHA:825", "NON RARE IN EUROPE: Ankylosing spondylarthritis": "ORPHA:825", "NON RARE IN EUROPE: Bechterew syndrome": "ORPHA:825", "Hot water reflex epilepsy": "ORPHA:166412", "Reading seizures": "ORPHA:166433", "Micturation-induced seizures": "ORPHA:166430", "Turner syndrome": "ORPHA:881", "45,X syndrome": "ORPHA:881", "45,X/46,XX syndrome": "ORPHA:881", "Startle epilepsy": "ORPHA:166427", "Thinking seizures": "ORPHA:166424", "Friedreich ataxia": "ORPHA:95", "FA": "ORPHA:95", "FRDA": "ORPHA:95", "Neurocutaneous syndrome with epilepsy": "ORPHA:166466", "Beta-thalassemia": "ORPHA:848", "Chromosomal anomaly with epilepsy as a major feature": "ORPHA:166469", "Alpha-thalassemia": "ORPHA:846", "OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis": "ORPHA:166457", "Cystic fibrosis": "ORPHA:586", "CF": "ORPHA:586", "Mucoviscidosis": "ORPHA:586", "Epilepsy syndrome": "ORPHA:166463", "Cerebral malformation with epilepsy": "ORPHA:166478", "Duchenne and Becker muscular dystrophy": "ORPHA:262", "Severe dystrophinopathy, Duchenne and Becker type": "ORPHA:262", "Metabolic diseases with epilepsy": "ORPHA:166481", "Monogenic disease with epilepsy": "ORPHA:166472", "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes": "ORPHA:166475", "Emery-Dreifuss muscular dystrophy": "ORPHA:261", "EDMD": "ORPHA:261", "Infectious disease with epilepsy": "ORPHA:166490", "Inflammatory and autoimmune disease with epilepsy": "ORPHA:166484", "Cerebral diseases of vascular origin with epilepsy": "ORPHA:166487", "MELAS": "ORPHA:550", "Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes": "ORPHA:550", "Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes": "ORPHA:550", "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes": "ORPHA:550", "Facioscapulohumeral dystrophy": "ORPHA:269", "FSH dystrophy": "ORPHA:269", "FSHD": "ORPHA:269", "Facioscapulohumeral muscular dystrophy": "ORPHA:269", "Facioscapulohumeral myopathy": "ORPHA:269", "Landouzy-Dejerine dystrophy": "ORPHA:269", "Landouzy-Dejerine myopathy": "ORPHA:269", "Kearns-Sayre syndrome": "ORPHA:480", "OBSOLETE: Classic paraneoplastic limbic encephalitis": "ORPHA:163898", "OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens": "ORPHA:163898", "Myofibrillar myopathy": "ORPHA:593", "MFM": "ORPHA:593", "OBSOLETE: Paraneoplastic limbic encephalitis": "ORPHA:163895", "OBSOLETE: Limbic encephalitis with LGI1 antibodies": "ORPHA:163908", "OBSOLETE: Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies": "ORPHA:163908", "OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens": "ORPHA:163903", "MERRF": "ORPHA:551", "Fukuhara syndrome": "ORPHA:551", "Myoclonus epilepsy associated with ragged-red fibres": "ORPHA:551", "Central core disease": "ORPHA:597", "Nemaline myopathy": "ORPHA:607", "NEM": "ORPHA:607", "NM": "ORPHA:607", "Nemaline rod myopathy": "ORPHA:607", "OBSOLETE: Limbic encephalitis": "ORPHA:163892", "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease": "ORPHA:163746", "Neurologic Waardenburg-Shah syndrome": "ORPHA:163746", "PCWH": "ORPHA:163746", "WS4 plus": "ORPHA:163746", "Paramyotonia congenita of Von Eulenburg": "ORPHA:684", "Paramyotonia congenita": "ORPHA:684", "Acrodermatitis continua of Hallopeau": "ORPHA:163931", "Steinert myotonic dystrophy": "ORPHA:273", "Myotonic dystrophy type 1": "ORPHA:273", "Steinert disease": "ORPHA:273", "Pustulosis palmaris et plantaris": "ORPHA:163927", "LPP": "ORPHA:525", "Localized pustular psoriasis": "ORPHA:163927", "PPP": "ORPHA:163927", "Palmoplantar pustulosis": "ORPHA:163927", "X-linked intellectual disability, Najm type": "ORPHA:163937", "MICPCH": "ORPHA:163937", "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome": "ORPHA:163937", "Atopic keratoconjunctivitis": "ORPHA:163934", "OBSOLETE: Non-paraneoplastic limbic encephalitis": "ORPHA:163918", "OBSOLETE: Limbic encephalitis with nCMAgs antibodies": "ORPHA:163914", "OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies": "ORPHA:163914", "OBSOLETE: Non-herpetic acute limbic encephalitis": "ORPHA:163924", "Thomsen and Becker disease": "ORPHA:614", "Myotonia congenita": "ORPHA:614", "Posttransplant acute limbic encephalitis": "ORPHA:163921", "PALE": "ORPHA:163921", "X-linked dominant chondrodysplasia, Chassaing-Lacombe type": "ORPHA:163966", "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome": "ORPHA:163966", "X-linked intellectual disability, Cilliers type": "ORPHA:163971", "X-linked intellectual disability-microcephaly-testicular failure syndrome": "ORPHA:163971", "X-linked intellectual disability, Van Esch type": "ORPHA:163976", "X-linked intellectual disability-craniofacioskeletal syndrome": "ORPHA:163979", "X-linked intellectual disability, Raymond type": "ORPHA:163953", "X-linked intellectual disability, Nascimento type": "ORPHA:163956", "X-linked intellectual disability-nail dystrophy-seizures syndrome": "ORPHA:163956", "X-linked cerebral-cerebellar-coloboma syndrome": "ORPHA:163961", "X-linked intellectual disability, Kroes type": "ORPHA:163961", "Middle and/or inner ear anomaly": "ORPHA:164004", "Acute myeloid leukemia and myelodysplastic syndromes related to radiation": "ORPHA:164726", "AML and myelodysplastic syndromes related to radiation": "ORPHA:164726", "Fabry disease": "ORPHA:324", "Alpha-galactosidase A deficiency": "ORPHA:324", "Anderson-Fabry disease": "ORPHA:324", "FD": "ORPHA:324", "X-linked intellectual disability-spastic quadriparesis syndrome": "ORPHA:163982", "Hyperekplexia-epilepsy syndrome": "ORPHA:163985", "Rett syndrome": "ORPHA:778", "OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type": "ORPHA:163988", "Rare odontal or periodontal disorder": "ORPHA:164001", "Angelman syndrome": "ORPHA:72", "Genetic pancreatic disease": "ORPHA:165661", "Juvenile myoclonic epilepsy": "ORPHA:307", "JME": "ORPHA:307", "Juvenile myoclonus epilepsy": "ORPHA:307", "Genetic gastro-esophageal disease": "ORPHA:165658", "Genetic intestinal disease": "ORPHA:165655", "Rare genetic gastroenterological disease": "ORPHA:165652", "Juvenile absence epilepsy": "ORPHA:1941", "JAE": "ORPHA:1941", "Von Hippel-Lindau disease": "ORPHA:892", "Familial cerebelloretinal angiomatosis": "ORPHA:892", "Lindau disease": "ORPHA:892", "VHL": "ORPHA:892", "Von Hippel-Lindau syndrome": "ORPHA:892", "Rare acquired aplastic anemia": "ORPHA:164823", "Autosomal recessive polycystic kidney disease": "ORPHA:731", "AR-PKD": "ORPHA:731", "Familial advanced sleep-phase syndrome": "ORPHA:164736", "FASPS": "ORPHA:164736", "CHARGE syndrome": "ORPHA:138", "CHARGE association": "ORPHA:138", "Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome": "ORPHA:138", "Hall-Hittner syndrome": "ORPHA:138", "Marfan syndrome": "ORPHA:558", "MFS": "ORPHA:558", "Familial mesial temporal lobe epilepsy with febrile seizures": "ORPHA:165805", "Amyotrophic lateral sclerosis": "ORPHA:803", "ALS": "ORPHA:803", "Charcot disease": "ORPHA:803", "Lou Gehrig disease": "ORPHA:803", "Rare abdominal surgical disease": "ORPHA:165711", "NON RARE IN EUROPE: Multiple sclerosis": "ORPHA:802", "Syndromic urogenital tract malformation": "ORPHA:165707", "Ataxia-telangiectasia": "ORPHA:100", "Louis-Bar syndrome": "ORPHA:100", "Non-syndromic urogenital tract malformation": "ORPHA:165704", "Familial adenomatous polyposis": "ORPHA:733", "Colorectal adenomatous polyposis": "ORPHA:733", "FAP": "ORPHA:733", "Familial polyposis coli": "ORPHA:733", "OBSOLETE: Subcutaneous myiasis": "ORPHA:165961", "Huntington disease": "ORPHA:399", "Huntington chorea": "ORPHA:399", "Wound myiasis": "ORPHA:165955", "Traumatic myiasis": "ORPHA:165955", "Lafora disease": "ORPHA:501", "EPM2": "ORPHA:501", "PME type 2": "ORPHA:501", "Progressive myoclonic epilepsy type 2": "ORPHA:501", "Progressive myoclonus epilepsy type 2": "ORPHA:501", "Cavitary myiasis": "ORPHA:165958", "Down syndrome": "ORPHA:870", "Trisomy 21": "ORPHA:870", "Metachromatic leukodystrophy": "ORPHA:512", "Arylsulfatase A deficiency": "ORPHA:512", "MLD": "ORPHA:512", "Multiple epiphyseal dysplasia, Beighton type": "ORPHA:166011", "Multiple epiphyseal dysplasia-myopia-deafness syndrome": "ORPHA:166011", "Multiple epiphyseal dysplasia-myopia-hearing loss syndrome": "ORPHA:166011", "22q11.2 deletion syndrome": "ORPHA:567", "22q11DS": "ORPHA:567", "CATCH 22": "ORPHA:567", "Cayler cardiofacial syndrome": "ORPHA:567", "Conotruncal anomaly face syndrome": "ORPHA:567", "DiGeorge sequence": "ORPHA:567", "DiGeorge syndrome": "ORPHA:567", "Microdeletion 22q11.2": "ORPHA:567", "Monosomy 22q11": "ORPHA:567", "Sedlackova syndrome": "ORPHA:567", "Shprintzen syndrome": "ORPHA:567", "Takao syndrome": "ORPHA:567", "Velocardiofacial syndrome": "ORPHA:567", "Multiple epiphyseal dysplasia, Lowry type": "ORPHA:166016", "Multiple epiphyseal dysplasia with Robin phenotype": "ORPHA:166016", "Sickle cell anemia": "ORPHA:232", "Pituitary resistance to thyroid hormone": "ORPHA:165994", "PRTH": "ORPHA:165994", "Selective pituitary resistance to thyroid hormone": "ORPHA:165994", "Systemic lupus erythematosus": "ORPHA:536", "Disseminated lupus erythematosus": "ORPHA:536", "SLE": "ORPHA:536", "Multiple epiphyseal dysplasia due to collagen 9 anomaly": "ORPHA:166002", "Oculocerebrorenal syndrome of Lowe": "ORPHA:534", "Lowe disease": "ORPHA:534", "Lowe oculo-cerebro-renal dystrophy": "ORPHA:534", "Lowe oculo-cerebro-renal syndrome": "ORPHA:534", "Lowe oculocerebrorenal dystrophy": "ORPHA:534", "Lowe syndrome": "ORPHA:534", "OCRL": "ORPHA:534", "Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency": "ORPHA:534", "Diazoxide-resistant diffuse hyperinsulinism": "ORPHA:165988", "Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form": "ORPHA:165988", "Retinoblastoma": "ORPHA:790", "Exercise-induced hyperinsulinism": "ORPHA:165991", "EIHI": "ORPHA:165991", "Exercise-induced hyperinsulinemic hypoglycemia": "ORPHA:165991", "Hyperinsulinism due to SLC16A1 deficiency": "ORPHA:165991", "Hyperinsulinism due to monocarboxylate transporter 1 deficiency": "ORPHA:165991", "Multiple endocrine neoplasia type 1": "ORPHA:652", "MEN1": "ORPHA:652", "Wermer syndrome": "ORPHA:652", "Diazoxide-sensitive diffuse hyperinsulinism": "ORPHA:165985", "Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form": "ORPHA:165985", "Fragile X syndrome": "ORPHA:908", "FRAXA syndrome": "ORPHA:908", "FXS": "ORPHA:908", "FraX syndrome": "ORPHA:908", "Martin-Bell syndrome": "ORPHA:908", "Rheumatic fever": "ORPHA:3099", "Acute rheumatic fever": "ORPHA:3099", "Prader-Willi syndrome": "ORPHA:739", "Prader-Labhart-Willi syndrome": "ORPHA:739", "X-linked agammaglobulinemia": "ORPHA:47", "BTK-deficiency": "ORPHA:47", "Bruton type agammaglobulinemia": "ORPHA:47", "Mucopolysaccharidosis type 2": "ORPHA:580", "Hunter syndrome": "ORPHA:580", "Iduronate 2-sulfatase deficiency": "ORPHA:580", "MPS2": "ORPHA:580", "MPSII": "ORPHA:580", "Mucopolysaccharidosis type II": "ORPHA:580", "Mucopolysaccharidosis type 1": "ORPHA:579", "Alpha-L-iduronidase deficiency": "ORPHA:579", "MPS1": "ORPHA:579", "MPSI": "ORPHA:293181", "Mucopolysaccharidosis type I": "ORPHA:579", "Wilson disease": "ORPHA:905", "Hepatolenticular degeneration": "ORPHA:905", "Non-syndromic cerebral malformation due to abnormal neuronal migration": "ORPHA:163209", "Brain malformation due to abnormal neuronal migration": "ORPHA:163209", "X-linked retinoschisis": "ORPHA:792", "X-linked juvenile retinoschisis": "ORPHA:792", "XLRS": "ORPHA:792", "OBSOLETE: Acute cutaneous lupus erythematosus": "ORPHA:163528", "X-linked mixed deafness with perilymphatic gusher": "ORPHA:383", "Conductive deafness with stapes fixation": "ORPHA:383", "DFNX2": "ORPHA:383", "Nance deafness": "ORPHA:383", "X-linked deafness type 2": "ORPHA:383", "X-linked mixed conductive and neurosensory deafness": "ORPHA:383", "X-linked mixed conductive and neurosensory hearing loss": "ORPHA:383", "X-linked mixed conductive and sensorineural deafness": "ORPHA:383", "X-linked mixed conductive and sensorineural hearing loss": "ORPHA:383", "X-linked stapes gusher syndrome": "ORPHA:383", "Subacute cutaneous lupus erythematosus": "ORPHA:163525", "Stargardt disease": "ORPHA:827", "Fundus flavimaculatus": "ORPHA:827", "Stargardt 1": "ORPHA:827", "Rare bacterial infectious disease": "ORPHA:163582", "Chronic cutaneous lupus erythematosus": "ORPHA:163531", "Wiskott-Aldrich syndrome": "ORPHA:906", "Eczema-thrombocytopenia-immunodeficiency syndrome": "ORPHA:906", "WAS": "ORPHA:906", "Williams syndrome": "ORPHA:904", "Deletion 7q11.23": "ORPHA:904", "Monosomy 7q11.23": "ORPHA:904", "Williams-Beuren syndrome": "ORPHA:904", "OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly": "ORPHA:162521", "OBSOLETE: Apertura pyriformis with holoprosencephaly": "ORPHA:162521", "Wolf-Hirschhorn syndrome": "ORPHA:280", "4p- syndrome": "ORPHA:280", "Distal deletion 4p": "ORPHA:280", "Distal monosomy 4p": "ORPHA:280", "Telomeric deletion 4p": "ORPHA:280", "Isolated congenital nasal pyriform aperture stenosis": "ORPHA:162516", "Isolated apertura pyriformis stenosis": "ORPHA:162516", "Isolated nasal pyriform aperture hypoplasia": "ORPHA:162516", "Achondroplasia": "ORPHA:15", "Ataxia with vitamin E deficiency": "ORPHA:96", "AVED": "ORPHA:96", "Ataxia with isolated vitamin E deficiency": "ORPHA:96", "Familial isolated vitamin E deficiency": "ORPHA:96", "Friedreich-like ataxia": "ORPHA:96", "Isolated vitamin E deficiency": "ORPHA:96", "Isolated congenital auditory ossicle malformation": "ORPHA:162526", "Congenital auditory ossicle malformation without external ear abnormality": "ORPHA:162526", "Dentatorubral pallidoluysian atrophy": "ORPHA:101", "DRPLA": "ORPHA:101", "Dentatorubropallidoluysian atrophy": "ORPHA:101", "Naito-Oyanagi disease": "ORPHA:101", "Rubinstein-Taybi syndrome": "ORPHA:783", "Broad thumb-hallux syndrome": "ORPHA:783", "Broad thumbs-halluces syndrome": "ORPHA:783", "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome": "ORPHA:163649", "Spondyloepiphyseal dysplasia, Nishimura type": "ORPHA:163649", "Non-acquired isolated growth hormone deficiency": "ORPHA:631", "Congenital IGHD": "ORPHA:631", "Congenital isolated GH deficiency": "ORPHA:631", "Congenital isolated growth hormone deficiency": "ORPHA:631", "T-B+ severe combined immunodeficiency due to gamma chain deficiency": "ORPHA:276", "SCIDX1": "ORPHA:276", "T-B+ SCID due to gamma chain deficiency": "ORPHA:276", "T-B+ severe combined immunodeficiency, X-linked": "ORPHA:276", "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome": "ORPHA:163654", "SED-BDS": "ORPHA:163654", "Spondyloepiphyseal dysplasia, Cantu type": "ORPHA:163654", "Tattoo dysplasia": "ORPHA:163654", "Kennedy disease": "ORPHA:481", "SBMA": "ORPHA:481", "SMAX1": "ORPHA:481", "X-linked BSMA": "ORPHA:481", "X-linked bulbospinal amyotrophy": "ORPHA:481", "X-linked bulbospinal muscular atrophy": "ORPHA:481", "X-linked spinal and bulbar muscular atrophy": "ORPHA:481", "Ornithine transcarbamylase deficiency": "ORPHA:664", "OCT deficiency": "ORPHA:664", "OTC deficiency": "ORPHA:664", "Ornithine carbamoyltransferase deficiency": "ORPHA:664", "Spondyloepiphyseal dysplasia, MacDermot type": "ORPHA:163668", "Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome": "ORPHA:163668", "Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome": "ORPHA:163668", "Spondyloepiphyseal dysplasia, Byers type": "ORPHA:163673", "Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome": "ORPHA:163673", "Spondyloepiphyseal dysplasia, Reardon type": "ORPHA:163662", "Homocystinuria due to cystathionine beta-synthase deficiency": "ORPHA:394", "CBS-deficient HCU": "ORPHA:394", "Classical homocystinuria": "ORPHA:394", "Cystathionine beta-synthase deficiency": "ORPHA:394", "Cystathionine beta-synthase-deficient homocystinuria": "ORPHA:394", "Homocystinuria due to CBS deficiency": "ORPHA:394", "Spondyloepiphyseal dysplasia tarda, Kohn type": "ORPHA:163665", "Leprechaunism": "ORPHA:508", "Donohue syndrome": "ORPHA:508", "Rare mycosis": "ORPHA:163591", "Hypophosphatasia": "ORPHA:436", "HPP": "ORPHA:436", "Phosphoethanolaminuria": "ORPHA:436", "Rathbun disease": "ORPHA:436", "Hb Bart's hydrops fetalis": "ORPHA:163596", "Alpha-thalassemia hydrops fetalis": "ORPHA:163596", "Alpha-thalassemia major": "ORPHA:163596", "BHFS": "ORPHA:163596", "HBHF": "ORPHA:163596", "Haemoglobin Bart's disease": "ORPHA:163596", "Haemoglobin Bart's hydrops fetalis": "ORPHA:163596", "Haemoglobin Bart's hydrops fetalis syndrome": "ORPHA:163596", "Hb Bart's hydrops fetalis syndrome": "ORPHA:163596", "Hemoglobin Bart's disease": "ORPHA:163596", "Hemoglobin Bart's hydrops fetalis": "ORPHA:163596", "Hemoglobin Bart's hydrops fetalis syndrome": "ORPHA:163596", "Homozygous alpha0-thalassemia": "ORPHA:163596", "Rare viral disease": "ORPHA:163585", "Hypochondroplasia": "ORPHA:429", "Rare parasitic disease": "ORPHA:163588", "Hypophosphatemic rickets": "ORPHA:437", "Rare disorder related with pregnancy, childbirth and puerperium": "ORPHA:163637", "Leber hereditary optic neuropathy": "ORPHA:104", "LHON": "ORPHA:104", "Leber optic atrophy": "ORPHA:104", "Bile acid synthesis defect with cholestasis and malabsorption": "ORPHA:163631", "Hydrocephalus with stenosis of the aqueduct of Sylvius": "ORPHA:2182", "Bickers-Adams syndrome": "ORPHA:2182", "HSAS": "ORPHA:2182", "X-linked HSAS": "ORPHA:2182", "X-linked acqueductal stenosis": "ORPHA:2182", "X-linked hydrocephalus": "ORPHA:2182", "X-linked hydrocephalus with stenosis of aqueduct of Sylvius": "ORPHA:2182", "Maffucci syndrome": "ORPHA:163634", "Enchondromatosis Spranger type II": "ORPHA:163634", "Multiple Enchondromatosis type II": "ORPHA:163634", "Multiple Enchondromatosis, Maffucci Type": "ORPHA:163634", "Benign familial mesial temporal lobe epilepsy": "ORPHA:163717", "Benign FMTLE": "ORPHA:163717", "Cryptogenic late-onset epileptic spasms": "ORPHA:163708", "Late-onset infantile spasms": "ORPHA:163708", "Neurofibromatosis type 1": "ORPHA:636", "Nonmosaic NF1": "ORPHA:636", "Nonmosaic neurofibromatosis type 1": "ORPHA:636", "Von Recklinghausen disease": "ORPHA:636", "Febrile infection-related epilepsy syndrome": "ORPHA:163703", "AERRPS": "ORPHA:163703", "Acute encephalitis with refractory repetitive partial seizures": "ORPHA:163703", "Acute non-herpetic encephalitis with severe refractory status epilepticus": "ORPHA:163703", "DESC syndrome": "ORPHA:163703", "Devastating epileptic encephalopathy in school-aged children": "ORPHA:163703", "FIRES": "ORPHA:163703", "Fever-induced refractory epileptic encephalopathy in school-aged children": "ORPHA:163703", "Norrie disease": "ORPHA:649", "Atrophia bulborum hereditaria": "ORPHA:649", "Episkopi blindness": "ORPHA:649", "Norrie-Warburg disease": "ORPHA:649", "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome": "ORPHA:163727", "Rolandic epilepsy exercise-induced dystonia": "ORPHA:163727", "Rolandic epilepsy-speech dyspraxia syndrome": "ORPHA:163721", "Leukoencephalopathy-dystonia-motor neuropathy syndrome": "ORPHA:163684", "CNTNAP2-related developmental and epileptic encephalopathy": "ORPHA:163681", "CDFE syndrome": "ORPHA:163681", "CDFES": "ORPHA:163681", "CNTNAP2-related DEE": "ORPHA:163681", "Cortical dysplasia-focal epilepsy syndrome": "ORPHA:163681", "Chronic granulomatous disease": "ORPHA:379", "CGD": "ORPHA:379", "Chronic septic granulomatosis": "ORPHA:379", "OBSOLETE: Unclassified spondylometaphyseal dysplasia": "ORPHA:163678", "Blue cone monochromatism": "ORPHA:16", "Atypical X-linked achromatopsia": "ORPHA:16", "Blue cone monochromacy": "ORPHA:16", "Color blindness, blue monocone monochromatic type": "ORPHA:16", "S cone monochromacy": "ORPHA:16", "S cone monochromatism": "ORPHA:16", "X-linked incomplete achromatopsia": "ORPHA:16", "Alveolar soft tissue sarcoma": "ORPHA:163699", "ASPS": "ORPHA:163699", "Alveolar soft part sarcoma": "ORPHA:163699", "NARP syndrome": "ORPHA:644", "Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome": "ORPHA:644", "Neuropathy-ataxia-retinitis pigmentosa syndrome": "ORPHA:644", "Full NF2-related schwannomatosis": "ORPHA:637", "Full NF2": "ORPHA:637", "Full neurofibromatosis type 2": "ORPHA:637", "Nonmosaic NF2-related schwannomatosis": "ORPHA:637", "Nonmosaic neurofibromatosis type 2": "ORPHA:637", "Action myoclonus-renal failure syndrome": "ORPHA:163696", "AMRF": "ORPHA:163696", "EPM4": "ORPHA:163696", "Myoclonus-nephropathy syndrome": "ORPHA:163696", "Progressive myoclonic epilepsy type 4": "ORPHA:163696", "Progressive myoclonus epilepsy type 4": "ORPHA:163696", "X-linked hypohidrotic ectodermal dysplasia": "ORPHA:181", "Christ-Siemens-Touraine syndrome": "ORPHA:181", "X-linked anhidrotic ectodermal dysplasia": "ORPHA:181", "XHED": "ORPHA:181", "2p21 microdeletion syndrome": "ORPHA:163693", "2p21 deletion syndrome": "ORPHA:163693", "Del(2)(p21)": "ORPHA:163693", "Monosomy 2p21": "ORPHA:163693", "Hypotonia-cystinuria syndrome": "ORPHA:163690", "HCS": "ORPHA:163690", "Fibrodysplasia ossificans progressiva": "ORPHA:337", "FOP": "ORPHA:337", "Myositis ossificans progressiva": "ORPHA:337", "Stone man syndrome": "ORPHA:337", "Watson syndrome": "ORPHA:3444", "Pulmonic stenosis with 'caf\u00e9-au-lait' spots": "ORPHA:3444", "Gorlin syndrome": "ORPHA:377", "Basal cell nevus syndrome": "ORPHA:377", "Gorlin-Goltz syndrome": "ORPHA:377", "NBCCS": "ORPHA:377", "Nevoid basal cell carcinoma syndrome": "ORPHA:377", "Noonan syndrome": "ORPHA:648", "Monosomy 5p syndrome": "ORPHA:281", "Cri du chat syndrome": "ORPHA:281", "Deletion 5p": "ORPHA:281", "46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency": "ORPHA:752", "17-beta-hydroxysteroid dehydrogenase 3 deficiency": "ORPHA:752", "17-ketoreductase deficiency": "ORPHA:752", "17-ketosteroidreductase deficiency": "ORPHA:752", "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency": "ORPHA:752", "Cystinuria": "ORPHA:214", "Cystinuria-lysinuria syndrome": "ORPHA:214", "Lesch-Nyhan syndrome": "ORPHA:510", "HPRT complete deficiency": "ORPHA:510", "HPRT deficiency grade IV": "ORPHA:510", "Hypoxanthine guanine phosphoribosyltransferase complete deficiency": "ORPHA:510", "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV": "ORPHA:510", "Li-Fraumeni syndrome": "ORPHA:524", "Pearson syndrome": "ORPHA:699", "PMPS": "ORPHA:699", "Pearson marrow-pancreas syndrome": "ORPHA:699", "Hereditary neuropathy with liability to pressure palsies": "ORPHA:640", "Current pressure-sensitive neuropathy": "ORPHA:640", "HNPP": "ORPHA:640", "Heterozygous microdeletion 17p11.2p12": "ORPHA:640", "Potato-grubbing palsy": "ORPHA:640", "Tomaculous neuropathy": "ORPHA:640", "Tulip-bulb digger's palsy": "ORPHA:640", "Alpha-1-antitrypsin deficiency": "ORPHA:60", "Alpha-1-proteinase inhibitor deficiency": "ORPHA:60", "Alpha1-antitrypsin deficiency": "ORPHA:60", "Waardenburg syndrome type 2": "ORPHA:895", "WS2": "ORPHA:895", "Waardenburg syndrome type II": "ORPHA:895", "Waardenburg syndrome type 3": "ORPHA:896", "Klein-Waardenburg syndrome": "ORPHA:896", "WS3": "ORPHA:896", "Waardenburg syndrome type III": "ORPHA:896", "Waardenburg syndrome with limb anomalies": "ORPHA:896", "NON RARE IN EUROPE: Schizophrenia": "ORPHA:3140", "Townes-Brocks syndrome": "ORPHA:857", "Imperforate anus-hand, foot and ear anomalies syndrome": "ORPHA:857", "REAR syndrome": "ORPHA:857", "Renal-ear-anal-radial syndrome": "ORPHA:857", "Sensorineural deafness with imperforate anus and hypoplastic thumbs": "ORPHA:857", "Sensorineural hearing loss with imperforate anus and hypoplastic thumbs": "ORPHA:857", "TBS": "ORPHA:857", "Townes syndrome": "ORPHA:857", "Waardenburg syndrome type 1": "ORPHA:894", "WS1": "ORPHA:894", "Waardenburg syndrome type I": "ORPHA:894", "Hyperkalemic periodic paralysis": "ORPHA:682", "Adynamia episodica hereditaria": "ORPHA:682", "Familial hyperPP": "ORPHA:682", "Familial hyperkalemic periodic paralysis": "ORPHA:682", "Gamstorp disease": "ORPHA:682", "Gamstorp episodic adynamy": "ORPHA:682", "HYPP": "ORPHA:682", "HyperKPP": "ORPHA:682", "HyperPP": "ORPHA:682", "Hyperkalemic PP": "ORPHA:682", "Primary hyperPP": "ORPHA:682", "Primary hyperkalemic periodic paralysis": "ORPHA:682", "Schwartz-Jampel syndrome": "ORPHA:800", "Aberfeld syndrome": "ORPHA:800", "Burton skeletal dysplasia": "ORPHA:800", "Burton syndrome": "ORPHA:800", "Catel-Hempel syndrome": "ORPHA:800", "Dysostosis enchondralis metaepiphysaria, Catel-Hempel type": "ORPHA:800", "Myotonic chondrodystrophy": "ORPHA:800", "Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies": "ORPHA:800", "Osteochondromuscular dystrophy": "ORPHA:800", "SJS": "ORPHA:800", "SJS1": "ORPHA:800", "Schwartz-Jampel syndrome type 1": "ORPHA:800", "Schwartz-Jampel-Aberfeld syndrome": "ORPHA:800", "NON RARE IN EUROPE: Patent arterial duct": "ORPHA:706", "NON RARE IN EUROPE: Patent ductus arteriosus": "ORPHA:706", "NON RARE IN EUROPE: Persistent patency of the arterial duct": "ORPHA:706", "Diastrophic dysplasia": "ORPHA:628", "Diastrophic dwarfism": "ORPHA:628", "Malaria": "ORPHA:673", "Hypokalemic periodic paralysis": "ORPHA:681", "Westphall disease": "ORPHA:681", "Blepharophimosis-ptosis-epicanthus inversus syndrome": "ORPHA:126", "BPES": "ORPHA:126", "BOR syndrome": "ORPHA:107", "Branchiootorenal spectrum disorder": "ORPHA:107", "Branchiootorenal syndrome": "ORPHA:107", "Melnick-Fraser syndrome": "ORPHA:107", "Hereditary hemorrhagic telangiectasia": "ORPHA:774", "HHT": "ORPHA:774", "Rendu-Osler disease": "ORPHA:774", "Rendu-Osler-Weber disease": "ORPHA:774", "Saethre-Chotzen syndrome": "ORPHA:794", "ACS3": "ORPHA:794", "Acrocephalosyndactyly type 3": "ORPHA:794", "SCS": "ORPHA:794", "Pfeiffer syndrome": "ORPHA:710", "ACS5": "ORPHA:710", "Acrocephalosyndactyly type 5": "ORPHA:710", "Peutz-Jeghers syndrome": "ORPHA:2869", "Hamartomatous intestinal polyposis": "ORPHA:2869", "PJS": "ORPHA:2869", "NON RARE IN EUROPE: Hereditary essential tremor": "ORPHA:862", "WAGR syndrome": "ORPHA:893", "Del(11)(p13)": "ORPHA:893", "Deletion 11p13": "ORPHA:893", "Monosomy 11p13": "ORPHA:893", "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome": "ORPHA:893", "Zellweger syndrome": "ORPHA:912", "Cerebrohepatorenal syndrome": "ORPHA:912", "Severe PBD-ZSD": "ORPHA:912", "Severe peroxisome biogenesis disorder-Zellweger spectrum disorder": "ORPHA:912", "ZS": "ORPHA:912", "Aicardi syndrome": "ORPHA:50", "Agenesis of corpus callosum with chorioretinal abnormality": "ORPHA:50", "Albers-Sch\u00f6nberg osteopetrosis": "ORPHA:53", "Osteopetrosis autosomal dominant type 2": "ORPHA:53", "Abetalipoproteinemia": "ORPHA:14", "Bassen-Kornzweig disease": "ORPHA:14", "Homozygous familial hypobetalipoproteinemia": "ORPHA:14", "Alagille syndrome": "ORPHA:52", "Alagille-Watson syndrome": "ORPHA:52", "Arteriohepatic dysplasia": "ORPHA:52", "Syndromic bile duct paucity": "ORPHA:52", "Ch\u00e9diak-Higashi syndrome": "ORPHA:167", "Ch\u00e9diak-Higashi disease": "ORPHA:167", "Ch\u00e9diak-Higashi-Steinbrink syndrome": "ORPHA:167", "Cat-eye syndrome": "ORPHA:195", "CES": "ORPHA:645749", "Crouzon syndrome": "ORPHA:207", "Crouzon craniofacial dysostosis": "ORPHA:207", "Crigler-Najjar syndrome": "ORPHA:205", "Bilirubin uridinediphosphate glucuronosyltransferase deficiency": "ORPHA:205", "Bilirubin-UGT deficiency": "ORPHA:205", "Cap polyposis": "ORPHA:160148", "Cap inflammatory polyposis": "ORPHA:160148", "Eroded polypoid hyperplasia": "ORPHA:160148", "Inflammatory myoglandular polyps": "ORPHA:160148", "Polypoid prolapsing folds": "ORPHA:160148", "Cowden syndrome": "ORPHA:201", "Cowden disease": "ORPHA:201", "Multiple hamartoma syndrome": "ORPHA:201", "Coffin-Lowry syndrome": "ORPHA:192", "CLS": "ORPHA:192", "X-linked lymphoproliferative disease": "ORPHA:2442", "Duncan disease": "ORPHA:2442", "Purtilo syndrome": "ORPHA:2442", "XLP": "ORPHA:2442", "Mild hemophilia A": "ORPHA:169808", "Mild congenital F8 deficiency": "ORPHA:169808", "Mild congenital factor VIII deficiency": "ORPHA:169808", "Congenital vitamin K-dependent coagulation factors deficiency": "ORPHA:169826", "Severe hemophilia A": "ORPHA:169802", "Severe congenital F8 deficiency": "ORPHA:169802", "Severe congenital factor VIII deficiency": "ORPHA:169802", "Moderate hemophilia A": "ORPHA:169805", "Moderate congenital F8 deficiency": "ORPHA:169805", "Moderate congenital factor VIII deficiency": "ORPHA:169805", "McCune-Albright syndrome": "ORPHA:562", "Menkes disease": "ORPHA:565", "MD": "ORPHA:565", "Menkes kinky hair disease": "ORPHA:565", "Menkes syndrome": "ORPHA:565", "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies": "ORPHA:2443", "Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies": "ORPHA:2443", "OXPHOS disease due to nDNA anomalies": "ORPHA:2443", "OXPHOS disease due to nuclear DNA anomalies": "ORPHA:2443", "NON RARE IN EUROPE: Celiac disease": "ORPHA:555", "NON RARE IN EUROPE: Celiac sprue": "ORPHA:555", "NON RARE IN EUROPE: Coeliac disease": "ORPHA:555", "NON RARE IN EUROPE: Coeliac sprue": "ORPHA:555", "NON RARE IN EUROPE: Gluten intolerance": "ORPHA:555", "NON RARE IN EUROPE: Gluten-induced enteropathy": "ORPHA:555", "NON RARE IN EUROPE: Gluten-sensitive enteropathy": "ORPHA:555", "NON RARE IN EUROPE: Idiopathic steatorrhea": "ORPHA:555", "NON RARE IN EUROPE: Nontropical sprue": "ORPHA:555", "Jeune syndrome": "ORPHA:474", "Asphyxiating thoracic dystrophy of the newborn": "ORPHA:474", "JATD": "ORPHA:474", "Jeune asphyxiating thoracic dystrophy": "ORPHA:474", "Familial hemophagocytic lymphohistiocytosis": "ORPHA:540", "Familial HLH": "ORPHA:540", "Microphthalmia, Lenz type": "ORPHA:568", "Lenz microphthalmia": "ORPHA:568", "Meckel syndrome": "ORPHA:564", "Dysencephalia splanchnocystica": "ORPHA:564", "Meckel-Gruber syndrome": "ORPHA:564", "Ellis Van Creveld syndrome": "ORPHA:289", "Chondroectodermal dysplasia": "ORPHA:289", "Mesodermic dysplasia": "ORPHA:289", "Laminin subunit alpha 2-related congenital muscular dystrophy": "ORPHA:258", "CMD1A": "ORPHA:258", "Congenital muscular dystrophy due to laminin alpha2 deficiency": "ORPHA:258", "Congenital muscular dystrophy type 1A": "ORPHA:258", "MDC1A": "ORPHA:258", "Merosin-negative congenital muscular dystrophy": "ORPHA:258", "Schistosomiasis": "ORPHA:1247", "Bilharziasis": "ORPHA:1247", "Bartter syndrome": "ORPHA:112", "Renal tubular normotensive hypokalemic alkalosis with hypercalciuria": "ORPHA:112", "Salt-losing tubular disorder, Henle's loop type": "ORPHA:112", "Salt-wasting tubulopathy, Henle's loop type": "ORPHA:112", "OBSOLETE: Autosomal recessive hyper-IgE syndrome": "ORPHA:169446", "OBSOLETE: AR-HIES": "ORPHA:169446", "OBSOLETE: Autosomal recessive HIES": "ORPHA:169446", "OBSOLETE: Hyperimmunoglobulin E syndrome type 2": "ORPHA:169446", "OBSOLETE: Non-skeletal hyper-IgE syndrome": "ORPHA:169446", "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells": "ORPHA:169443", "Chromosome Y microdeletion syndrome": "ORPHA:1646", "Male infertility due to chromosome Y microdeletion": "ORPHA:1646", "Microdeletion of the AZF region on the Y chromosome": "ORPHA:1646", "Primary CD59 deficiency": "ORPHA:169464", "Autosomal dominant cerebellar ataxia": "ORPHA:99", "ADCA": "ORPHA:99", "Autosomal dominant spinocerebellar ataxia": "ORPHA:99", "Beckwith-Wiedemann syndrome": "ORPHA:116", "BWS": "ORPHA:116", "Exomphalos-macroglossia-gigantism syndrome": "ORPHA:116", "Wiedemann-Beckwith syndrome": "ORPHA:116", "Apert syndrome": "ORPHA:87", "ACS1": "ORPHA:87", "Acrocephalosyndactyly type 1": "ORPHA:87", "NON RARE IN EUROPE: Secondary central precocious puberty": "ORPHA:169618", "NON RARE IN EUROPE: Idiopathic central precocious puberty": "ORPHA:169615", "Familial paroxysmal ataxia": "ORPHA:97", "Episodic ataxia type 2": "ORPHA:97", "Recurrent Neisseria infections due to factor D deficiency": "ORPHA:169467", "Lamellar ichthyosis": "ORPHA:313", "LI": "ORPHA:313", "Mild hemophilia B": "ORPHA:169799", "Mild congenital F9 deficiency": "ORPHA:169799", "Mild congenital factor IX deficiency": "ORPHA:169799", "Moderate hemophilia B": "ORPHA:169796", "Moderate congenital F9 deficiency": "ORPHA:169796", "Moderate congenital factor IX deficiency": "ORPHA:169796", "Severe hemophilia B": "ORPHA:169793", "Severe congenital F9 deficiency": "ORPHA:169793", "Severe congenital factor IX deficiency": "ORPHA:169793", "NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia": "ORPHA:406", "NON RARE IN EUROPE: HeFH": "ORPHA:406", "Rectal duplication": "ORPHA:171220", "Ocular albinism with late-onset sensorineural deafness": "ORPHA:1000", "Ocular albinism with late-onset sensorineural hearing loss": "ORPHA:1000", "Ermine phenotype": "ORPHA:999", "O'Doherty syndrome": "ORPHA:999", "Pigmentary disorder with deafness": "ORPHA:999", "Pigmentary disorder with hearing loss": "ORPHA:999", "Severe congenital nemaline myopathy": "ORPHA:171430", "Intermediate nemaline myopathy": "ORPHA:171433", "Typical nemaline myopathy": "ORPHA:171436", "Childhood-onset nemaline myopathy": "ORPHA:171439", "Mild nemaline myopathy": "ORPHA:171439", "Oculocutaneous albinism": "ORPHA:55", "OCA": "ORPHA:55", "Adult-onset nemaline myopathy": "ORPHA:171442", "Muscle filaminopathy": "ORPHA:171445", "FLNC-associated myofibrillar myopathy": "ORPHA:171445", "Filamin C-related filaminopathy": "ORPHA:171445", "MFM5": "ORPHA:171445", "X-linked spastic paraplegia type 34": "ORPHA:171607", "SPG34": "ORPHA:171607", "Bruck syndrome": "ORPHA:2771", "Osteogenesis imperfecta-congenital joint contractures syndrome": "ORPHA:2771", "NON RARE IN EUROPE: Autism": "ORPHA:106", "Autosomal dominant spastic paraplegia type 37": "ORPHA:171612", "SPG37": "ORPHA:171612", "Autosomal dominant spastic paraplegia type 38": "ORPHA:171617", "SPG38": "ORPHA:171617", "Mitochondrial DNA-related cardiomyopathy and hearing loss": "ORPHA:1349", "Maternally-inherited cardiomyopathy and deafness": "ORPHA:1349", "mtDNA-related cardiomyopathy and deafness": "ORPHA:1349", "mtDNA-related cardiomyopathy and hearing loss": "ORPHA:1349", "tRNA-LYS-related cardiomyopathy-hearing loss syndrome": "ORPHA:1349", "Autosomal recessive spastic paraplegia type 32": "ORPHA:171622", "SPG32": "ORPHA:171622", "Autosomal recessive spastic paraplegia type 35": "ORPHA:171629", "SPG35": "ORPHA:171629", "NON RARE IN EUROPE: Gilbert syndrome": "ORPHA:357", "NON RARE IN EUROPE: Familial cholemia": "ORPHA:357", "NON RARE IN EUROPE: Hyperbilirubinemia type 1": "ORPHA:357", "Treacher-Collins syndrome": "ORPHA:861", "Franceschetti-Klein syndrome": "ORPHA:861", "Mandibulofacial dysostosis without limb anomalies": "ORPHA:861", "Progressive myoclonic epilepsy type 1": "ORPHA:308", "EPM1": "ORPHA:308", "Progressive myoclonus epilepsy type 1": "ORPHA:308", "ULD": "ORPHA:308", "Unverricht-Lundborg disease": "ORPHA:308", "Cleft lip with or without cleft palate": "ORPHA:1991", "Tessier cleft number 1,2": "ORPHA:1991", "Cornelia de Lange syndrome": "ORPHA:199", "Brachmann-de Lange syndrome": "ORPHA:199", "OBSOLETE: High isolated anorectal malformation": "ORPHA:171201", "Holoprosencephaly": "ORPHA:2162", "HPE": "ORPHA:2162", "Idiopathic achalasia": "ORPHA:930", "Achalasia cardia": "ORPHA:930", "Idiopathic achalasia of esophagus": "ORPHA:930", "Primary achalasia": "ORPHA:930", "OBSOLETE: Low isolated anorectal malformation": "ORPHA:171215", "Albinism-deafness syndrome": "ORPHA:998", "Albinism-hearing loss syndrome": "ORPHA:998", "OBSOLETE: Intermediate isolated anorectal malformation": "ORPHA:171208", "22q11.2 duplication syndrome": "ORPHA:1727", "22q11.2 microduplication syndrome": "ORPHA:1727", "Dup(22)(q11)": "ORPHA:1727", "Duplication 22q11.2": "ORPHA:1727", "Trisomy 22q11.2": "ORPHA:1727", "Cernunnos-XLF deficiency": "ORPHA:169079", "Cernunnos XLFD": "ORPHA:169079", "Cernunnos deficiency": "ORPHA:169079", "Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome": "ORPHA:169079", "NHEJ1 deficiency": "ORPHA:169079", "Distal duplication 18q syndrome": "ORPHA:1716", "Distal trisomy 18q": "ORPHA:1716", "Telomeric duplication 18q": "ORPHA:1716", "Trisomy 18qter": "ORPHA:1716", "Trisomy 18p syndrome": "ORPHA:1715", "Duplication 18p": "ORPHA:1715", "Duplication of the short arm of chromosome 18": "ORPHA:1715", "Trisomy of the short arm of chromosome 18": "ORPHA:1715", "Trisomy 18 syndrome": "ORPHA:3380", "Chromosome 18 duplication": "ORPHA:3380", "Edwards syndrome": "ORPHA:3380", "CLAPO syndrome": "ORPHA:168984", "Distal duplication 15q syndrome": "ORPHA:1707", "Distal trisomy 15q": "ORPHA:1707", "Telomeric duplication 15q": "ORPHA:1707", "Trisomy 15qter": "ORPHA:1707", "Malignant melanoma of the mucosa": "ORPHA:168999", "Trisomy 13 syndrome": "ORPHA:3378", "Patau syndrome": "ORPHA:3378", "Kahrizi syndrome": "ORPHA:168972", "Intellectual disability, Kahrizi type": "ORPHA:168972", "Intellectual disability-cataract-coloboma-kyphosis syndrome": "ORPHA:168972", "Immunoglobulin heavy chain deficiency": "ORPHA:169110", "Immunodeficiency due to CD25 deficiency": "ORPHA:169100", "Interleukin-2 receptor alpha chain deficiency": "ORPHA:169100", "Good syndrome": "ORPHA:169105", "Thymoma-immunodeficiency syndrome": "ORPHA:169105", "Combined immunodeficiency due to CRAC channel dysfunction": "ORPHA:169090", "Immune dysfunction due to T-cell inactivation due to calcium entry defect": "ORPHA:169090", "Trisomy 9p syndrome": "ORPHA:236", "Duplication 9p": "ORPHA:236", "Duplication of the short arm of chromosome 9": "ORPHA:236", "Trisomy of the short arm of chromosome 9": "ORPHA:236", "Severe combined immunodeficiency due to FOXN1 deficiency": "ORPHA:169095", "Alymphoid cystic thymic dysgenesis": "ORPHA:169095", "Nude/SCID": "ORPHA:169095", "Nude/severe combined immunodeficiency": "ORPHA:169095", "SCID due to FOXN1 deficiency": "ORPHA:169095", "Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome": "ORPHA:169095", "Winged helix deficiency": "ORPHA:169095", "Combined immunodeficiency due to CD3gamma deficiency": "ORPHA:169082", "Susceptibility to respiratory infections associated with CD8alpha chain mutation": "ORPHA:169085", "Familial CD8 deficiency": "ORPHA:169085", "Primary peritoneal carcinoma": "ORPHA:168829", "EOPPC": "ORPHA:168829", "Extra-ovarian primary peritoneal carcinoma": "ORPHA:168829", "PPC": "ORPHA:168829", "Primary peritoneal serous carcinoma": "ORPHA:168829", "Serous surface papillary carcinoma": "ORPHA:168829", "Peritoneal inclusion cyst": "ORPHA:168816", "Benign multicystic peritoneal mesothelioma": "ORPHA:168816", "Multicystic mesothelioma": "ORPHA:168816", "Multilocular peritoneal inclusion cyst": "ORPHA:168816", "Peritoneal cyctic mesothelioma": "ORPHA:168816", "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency": "ORPHA:753", "46,XY DSD due to 5-alpha-reductase 2 deficiency": "ORPHA:753", "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency": "ORPHA:753", "Pseudovaginal perineoscrotal hypospadias": "ORPHA:753", "Steroid 5-alpha-reductase 2 deficiency": "ORPHA:753", "Triose phosphate-isomerase deficiency": "ORPHA:868", "Malignant peritoneal mesothelioma": "ORPHA:168811", "Diffuse malignant peritoneal mesothelioma": "ORPHA:168811", "Primary malignant peritoneal mesothelioma": "ORPHA:168811", "Primary malignant peritoneal tumor": "ORPHA:168807", "Primary peritoneal tumor": "ORPHA:168803", "Darier disease": "ORPHA:218", "Darier-White disease": "ORPHA:218", "Keratosis follicularis": "ORPHA:218", "Heart-hand syndrome, Slovenian type": "ORPHA:168796", "Atriodigital dysplasia, Slovenian type": "ORPHA:168796", "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome": "ORPHA:168796", "Coffin-Siris syndrome": "ORPHA:1465", "CSS": "ORPHA:1465", "Childhood disintegrative disorder": "ORPHA:168782", "Dementia infantilis": "ORPHA:168782", "Heller syndrome": "ORPHA:168782", "Distal deletion 9p syndrome": "ORPHA:1642", "Distal monosomy 9p": "ORPHA:1642", "Monosomy 9pter": "ORPHA:1642", "Telomeric deletion 9p": "ORPHA:1642", "Composite lymphoma": "ORPHA:168966", "Composite Hodgkin and non-Hodgkin lymphoma": "ORPHA:168966", "Refractory anemia with excess blasts in transformation": "ORPHA:168960", "RAEB-t": "ORPHA:168960", "47,XYY syndrome": "ORPHA:8", "Double Y syndrome": "ORPHA:8", "Jacobs syndrome": "ORPHA:8", "XYY syndrome": "ORPHA:8", "Y disomy": "ORPHA:8", "Distal monosomy 7q36 syndrome": "ORPHA:1636", "Distal deletion 7q36": "ORPHA:1636", "Monosomy 7qter": "ORPHA:1636", "Telomeric deletion 7q36": "ORPHA:1636", "Hypereosinophilic syndrome": "ORPHA:168956", "HES": "ORPHA:168956", "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement": "ORPHA:168953", "8p11 myeloproliferative syndrome": "ORPHA:168953", "Stem cell leukemia/lymphoma": "ORPHA:168953", "Monosomy 18q syndrome": "ORPHA:1600", "18q deletion syndrome": "ORPHA:1600", "18q- syndrome": "ORPHA:1600", "De Grouchy syndrome type 2": "ORPHA:1600", "Deletion 18q": "ORPHA:1600", "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement": "ORPHA:168950", "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement": "ORPHA:168947", "Monosomy 18p syndrome": "ORPHA:1598", "18p- syndrome": "ORPHA:1598", "De Grouchy syndrome type 1": "ORPHA:1598", "Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2": "ORPHA:168943", "Chronic eosinophilic leukemia": "ORPHA:168940", "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome": "ORPHA:2773", "Al Gazali-Nair syndrome": "ORPHA:2773", "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome": "ORPHA:2772", "Isolated complex I deficiency": "ORPHA:2609", "Isolated NADH-CoQ reductase deficiency": "ORPHA:2609", "Isolated NADH-coenzyme Q reductase deficiency": "ORPHA:2609", "Isolated NADH-ubiquinone reductase deficiency": "ORPHA:2609", "Isolated mitochondrial respiratory chain complex I deficiency": "ORPHA:2609", "Immune dysregulation disease with immunodeficiency": "ORPHA:169361", "Large/giant congenital melanocytic nevus": "ORPHA:626", "LGCMN": "ORPHA:626", "Large/giant CMN syndrome": "ORPHA:626", "Large/giant congenital pigmented nevus": "ORPHA:626", "Refsum disease": "ORPHA:773", "Adult Refsum disease": "ORPHA:773", "Classic Refsum disease": "ORPHA:773", "HMSN 4": "ORPHA:773", "HMSN IV": "ORPHA:773", "Hereditary motor and sensory neuropathy type 4": "ORPHA:773", "Hereditary motor and sensory neuropathy type IV": "ORPHA:773", "Heredopathia atactica polyneuritiformis": "ORPHA:773", "Phytanic-CoA hydroxylase deficiency": "ORPHA:773", "Pentasomy X syndrome": "ORPHA:11", "49,XXXXX syndrome": "ORPHA:11", "Penta-X": "ORPHA:11", "Poly-X": "ORPHA:11", "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency": "ORPHA:169154", "T-B+ SCID due to IL-7Ralpha deficiency": "ORPHA:169154", "Glycogen storage disease due to phosphorylase kinase deficiency": "ORPHA:370", "GSD due to phosphorylase kinase deficiency": "ORPHA:370", "GSD type 9": "ORPHA:370", "GSD type IX": "ORPHA:370", "Glycogen storage disease due to PhK deficiency": "ORPHA:370", "Glycogen storage disease type 9": "ORPHA:370", "Glycogen storage disease type IX": "ORPHA:370", "Glycogenosis due to phosphorylase kinase deficiency": "ORPHA:370", "Glycogenosis type 9": "ORPHA:370", "Glycogenosis type IX": "ORPHA:370", "Gycogenosis due to PhK deficiency": "ORPHA:370", "Immunodeficiency due to a late component of complement deficiency": "ORPHA:169150", "Immunodeficiency due to C5 to C9 component complement deficiency": "ORPHA:169150", "Terminal complement pathway deficiency": "ORPHA:169150", "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta": "ORPHA:169160", "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta": "ORPHA:169160", "Neurodegeneration with brain iron accumulation": "ORPHA:385", "NBIA": "ORPHA:385", "T-B+ severe combined immunodeficiency due to CD45 deficiency": "ORPHA:169157", "T-B+ SCID due to CD45 deficiency": "ORPHA:169157", "Transient hypogammaglobulinemia of infancy": "ORPHA:169139", "Progressive epilepsy-intellectual disability syndrome, Finnish type": "ORPHA:1947", "CLN8 disease, Northern epilepsy variant": "ORPHA:1947", "NCL, Northern epilepsy variant": "ORPHA:1947", "Neuronal ceroid lipofuscinosis, Northern epilepsy variant": "ORPHA:1947", "Northern epilepsy": "ORPHA:1947", "Immunodeficiency due to a classical component pathway complement deficiency": "ORPHA:169147", "Immunodeficiency due to C1, C4, or C2 component complement deficiency": "ORPHA:169147", "Immunodeficiency due to an early component of complement deficiency": "ORPHA:169147", "Recurrent infections due to specific granule deficiency": "ORPHA:169142", "Neutrophil-specific granule deficiency": "ORPHA:169142", "Galactosemia": "ORPHA:352", "X-linked centronuclear myopathy": "ORPHA:596", "X-linked myotubular myopathy": "ORPHA:596", "XLCNM": "ORPHA:596", "XLMTM": "ORPHA:596", "Immuno-osseous dysplasia": "ORPHA:169349", "DNA repair defect other than combined T-cell and B-cell immunodeficiencies": "ORPHA:169346", "Immunodeficiency syndrome with autoimmunity": "ORPHA:169355", "Bethlem muscular dystrophy": "ORPHA:610", "Bethlem myopathy": "ORPHA:610", "LGMD D5 collagen 6-related dystrophy": "ORPHA:610", "LGMD D5 collagen VI-related dystrophy": "ORPHA:610", "LGMD R22 collagen 6-related dystrophy": "ORPHA:610", "LGMD R22 collagen VI-related dystrophy": "ORPHA:610", "Mild form of COL6-related dystrophy": "ORPHA:610", "Mild form of collagen VI-related dystrophy": "ORPHA:610", "Autosomal recessive centronuclear myopathy": "ORPHA:169186", "AR-CNM": "ORPHA:169186", "Incontinentia pigmenti": "ORPHA:464", "Bloch-Siemens syndrome": "ORPHA:464", "Bloch-Sulzberger syndrome": "ORPHA:464", "Tetrasomy 18p syndrome": "ORPHA:3307", "Isochromosome 18p": "ORPHA:3307", "Familial scaphocephaly syndrome": "ORPHA:169163", "NON RARE IN EUROPE: Klinefelter syndrome": "ORPHA:484", "NON RARE IN EUROPE: 47,XXY syndrome": "ORPHA:484", "Autosomal dominant centronuclear myopathy": "ORPHA:169189", "AD-CNM": "ORPHA:169189", "Mirhosseini-Holmes-Walton syndrome": "ORPHA:3084", "Pigmentary retinopathy-intellectual disability syndrome": "ORPHA:3084", "Neonatal adrenoleukodystrophy": "ORPHA:44", "Intermediate PBD-ZSD": "ORPHA:44", "Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder": "ORPHA:44", "NALD": "ORPHA:44", "Alkaptonuria": "ORPHA:56", "Hereditary ochronosis": "ORPHA:56", "Homogentisic acid oxidase deficiency": "ORPHA:56", "Acromegaly": "ORPHA:963", "Blue rubber bleb nevus": "ORPHA:1059", "BRBN": "ORPHA:1059", "Bean syndrome": "ORPHA:1059", "Alopecia antibody deficiency": "ORPHA:1006", "Ipp-Gelfand syndrome": "ORPHA:1006", "Lethal hemolytic anemia-genital anomalies syndrome": "ORPHA:1046", "Water-West syndrome": "ORPHA:1046", "Succinic semialdehyde dehydrogenase deficiency": "ORPHA:22", "4-hydroxybutyric aciduria": "ORPHA:22", "Gamma-hydroxybutyric aciduria": "ORPHA:22", "SSADH deficiency": "ORPHA:22", "Mevalonic aciduria": "ORPHA:29", "Complete mevalonate kinase deficiency": "ORPHA:29", "MVA": "ORPHA:29", "Nager syndrome": "ORPHA:245", "Mandibulofacial dysostosis with preaxial limb anomalies": "ORPHA:245", "NAFD": "ORPHA:245", "Nager acrofacial dysostosis": "ORPHA:245", "Preaxial acrodysostosis": "ORPHA:245", "Hereditary orotic aciduria": "ORPHA:30", "Orotidylic decarboxylase deficiency": "ORPHA:30", "Uridine monophosphate synthetase deficiency": "ORPHA:30", "Acrocallosal syndrome": "ORPHA:36", "ACS": "ORPHA:36", "Aarskog-Scott syndrome": "ORPHA:915", "Aarskog syndrome": "ORPHA:915", "Faciodigitogenital syndrome": "ORPHA:915", "Faciogenital dysplasia": "ORPHA:915", "Nail-patella syndrome": "ORPHA:2614", "Onychoosteodysplasia": "ORPHA:2614", "Turner-Kieser syndrome": "ORPHA:2614", "Isovaleric acidemia": "ORPHA:33", "Isovaleric acid CoA dehydrogenase deficiency": "ORPHA:33", "Rare cardiac tumor": "ORPHA:168194", "NON RARE IN EUROPE: Acanthosis nigricans": "ORPHA:924", "Smith-Magenis syndrome": "ORPHA:819", "17p11.2 microdeletion syndrome": "ORPHA:819", "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome": "ORPHA:3085", "Edwards-Sethi syndrome": "ORPHA:3085", "Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome": "ORPHA:3085", "Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome": "ORPHA:3085", "Tetrasomy X syndrome": "ORPHA:9", "48,XXXX syndrome": "ORPHA:9", "Quadruple X": "ORPHA:9", "Tetra X": "ORPHA:9", "Hereditary persistence of alpha-fetoprotein": "ORPHA:168615", "Congenital deficiency in alpha-fetoprotein": "ORPHA:168612", "Ring chromosome 18 syndrome": "ORPHA:1442", "Ring 18": "ORPHA:1442", "Ring chromosome 18": "ORPHA:1442", "Dysplasia of head of femur, Meyer type": "ORPHA:168621", "DECF": "ORPHA:168621", "Dysplasia epiphysealis capitis femoris": "ORPHA:168621", "Meyer dysplasia": "ORPHA:168621", "Cleidocranial dysplasia": "ORPHA:1452", "Cleidocranial dysostosis": "ORPHA:1452", "OBSOLETE: Autosomal dominant coarctation of aorta": "ORPHA:1455", "Autosomal thrombocytopenia with normal platelets": "ORPHA:168629", "Familial scaphocephaly syndrome, McGillivray type": "ORPHA:168624", "Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome": "ORPHA:168624", "Cohen syndrome": "ORPHA:193", "Rare pervasive developmental disorder": "ORPHA:168778", "Rare ASD": "ORPHA:168778", "Rare PDD": "ORPHA:168778", "Rare autism spectrum disorder": "ORPHA:168778", "Cooper-Jabs syndrome": "ORPHA:1488", "Aural atresia-multiple congenital anomalies-intellectual disability syndrome": "ORPHA:1488", "Isolated corpus callosum agenesis": "ORPHA:200", "Generalized basaloid follicular hamartoma syndrome": "ORPHA:168632", "Chronic mucocutaneous candidiasis": "ORPHA:1334", "CMC": "ORPHA:1334", "Hereditary North American Indian childhood cirrhosis": "ORPHA:168583", "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome": "ORPHA:1369", "Sengers syndrome": "ORPHA:1369", "Hereditary cryohydrocytosis with reduced stomatin": "ORPHA:168577", "CHC type 2": "ORPHA:168577", "Hereditary cryohydrocytosis type 2": "ORPHA:168577", "Stomatin-deficient cryohydrocytosis": "ORPHA:168577", "sdCHC": "ORPHA:168577", "Sudden infant death-dysgenesis of the testes syndrome": "ORPHA:168593", "SIDDT": "ORPHA:168593", "Charlie M syndrome": "ORPHA:1406", "Hyperandrogenism due to cortisone reductase deficiency": "ORPHA:168588", "11-beta-hydroxysteroid dehydrogenase deficiency type 1": "ORPHA:168588", "Congenital enteropathy due to enteropeptidase deficiency": "ORPHA:168601", "Congenital enterokinase deficiency": "ORPHA:168601", "Cholestasis-lymphedema syndrome": "ORPHA:1414", "Aagenaes syndrome": "ORPHA:1414", "Methionine adenosyltransferase I/III deficiency": "ORPHA:168598", "MAT I/III deficiency": "ORPHA:168598", "Mudd's disease": "ORPHA:168598", "OBSOLETE: Platyspondylic lethal chondrodysplasia": "ORPHA:1417", "OBSOLETE: Akaba-Hayasaka syndrome": "ORPHA:1417", "Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure": "ORPHA:168609", "Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure": "ORPHA:168609", "Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure": "ORPHA:168609", "Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure": "ORPHA:168609", "Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure": "ORPHA:168609", "Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure": "ORPHA:168609", "Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure": "ORPHA:168609", "Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure": "ORPHA:168609", "Seborrhea-like dermatitis with psoriasiform elements": "ORPHA:168606", "OBSOLETE: Arthrogryposis due to muscular dystrophy": "ORPHA:1155", "Axial spondylometaphyseal dysplasia": "ORPHA:168549", "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome": "ORPHA:168552", "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome": "ORPHA:1154", "Distal arthrogryposis type 5": "ORPHA:1154", "Distal arthrogryposis type IIB": "ORPHA:1154", "Distal arthrogryposis with ophthalmoplegia": "ORPHA:1154", "Oculomelic amyoplasia": "ORPHA:1154", "Spondylometaphyseal dysplasia, A4 type": "ORPHA:168555", "NON RARE IN EUROPE: Asperger syndrome": "ORPHA:1162", "46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency": "ORPHA:168558", "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency": "ORPHA:168558", "XY sex reversal-adrenal failure": "ORPHA:168558", "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome": "ORPHA:168563", "Diamond-Blackfan anemia": "ORPHA:124", "Congenital PRCA": "ORPHA:124", "Congenital pure red cell aplasia": "ORPHA:124", "Diamond-Blackfan anemia syndrome": "ORPHA:124", "NON RARE IN EUROPE: Barrett esophagus": "ORPHA:1232", "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3": "ORPHA:168566", "Fatal mitochondrial disease due to COXPD3": "ORPHA:168566", "Caffey disease": "ORPHA:1310", "Infantile cortical hyperostosis": "ORPHA:1310", "H syndrome": "ORPHA:168569", "Native American myopathy": "ORPHA:168572", "Congenital myopathy-cleft palate-malignant hyperthermia syndrome": "ORPHA:168572", "Bloom syndrome": "ORPHA:125", "BSyn": "ORPHA:125", "Argininemia": "ORPHA:90", "Arginase deficiency": "ORPHA:90", "Hyperargininemia": "ORPHA:90", "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome": "ORPHA:168443", "Aniridia-cerebellar ataxia-intellectual disability syndrome": "ORPHA:1065", "Gillespie syndrome": "ORPHA:1065", "Spondyloepimetaphyseal dysplasia, Bieganski type": "ORPHA:168448", "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome": "ORPHA:168451", "SEMDAD": "ORPHA:168451", "Arrhinia-choanal atresia-microphthalmia syndrome": "ORPHA:1135", "Spondyloepimetaphyseal dysplasia, Genevi\u00e8ve type": "ORPHA:168454", "SEMD, Genevi\u00e8ve type": "ORPHA:168454", "SEMDG": "ORPHA:168454", "Distal arthrogryposis type 1": "ORPHA:1146", "DA1": "ORPHA:1146", "Digitotalar dysmorphism": "ORPHA:1146", "Neurogenic arthrogryposis multiplex congenita": "ORPHA:1143", "OBSOLETE: Congenital neuronal ceroid lipofuscinosis": "ORPHA:168486", "OBSOLETE: Congenital NCL": "ORPHA:168486", "OBSOLETE: Late infantile neuronal ceroid lipofuscinosis": "ORPHA:168491", "OBSOLETE: Jansky-Bielschowsky disease": "ORPHA:168491", "OBSOLETE: LINCL": "ORPHA:168491", "OBSOLETE: Late infantile NCL": "ORPHA:168491", "Spondylometaphyseal dysplasia, Golden type": "ORPHA:168544", "X-linked spondylometaphyseal dysplasia": "ORPHA:168544", "Sheldon-Hall syndrome": "ORPHA:1147", "DA2B": "ORPHA:1147", "Distal arthrogryposis multiplex congenita type 2B": "ORPHA:1147", "Distal arthrogryposis type 2B": "ORPHA:1147", "Freeman-Sheldon syndrome variant": "ORPHA:1147", "SSH": "ORPHA:1147", "Postaxial acrofacial dysostosis": "ORPHA:246", "Acrofacial dysostosis, Genee-Wiedemann type": "ORPHA:246", "Mandibulofacial dysostosis with postaxial limb anomalies": "ORPHA:246", "Miller syndrome": "ORPHA:246", "POADS": "ORPHA:246", "Postaxial acrodysostosis": "ORPHA:246", "OBSOLETE: Epimetaphyseal skeletal dysplasia": "ORPHA:1819", "XY type gonadal dysgenesis-associated anomalies syndrome": "ORPHA:1770", "Dyskeratosis congenita": "ORPHA:1775", "DC": "ORPHA:1775", "DKC": "ORPHA:1775", "Zinsser-Engman-Cole syndrome": "ORPHA:1775", "Familial dysautonomia": "ORPHA:1764", "HSAN3": "ORPHA:1764", "Hereditary sensory and autonomic neuropathy type 3": "ORPHA:1764", "Hereditary sensory and autonomic neuropathy type III": "ORPHA:1764", "Riley-Day syndrome": "ORPHA:1764", "Dubowitz syndrome": "ORPHA:235", "Dyggve-Melchior-Clausen disease": "ORPHA:239", "Rare disease with dentinogenesis imperfecta": "ORPHA:167762", "Diencephalic syndrome": "ORPHA:1672", "Diencephalic cachexia": "ORPHA:1672", "Diencephalic syndrome of childhood": "ORPHA:1672", "Diencephalic syndrome of emaciation": "ORPHA:1672", "Russell diencephalic cachexia": "ORPHA:1672", "Russell syndrome": "ORPHA:1672", "Hereditary dentin defect": "ORPHA:167759", "Encephalopathy due to sulfite oxidase deficiency": "ORPHA:833", "Unclassified acute myeloid leukemia": "ORPHA:167714", "Unclassified AML": "ORPHA:167714", "Scleromyxedema": "ORPHA:167635", "Arndt-Gottron disease": "ORPHA:167635", "Generalized lichenoid papular eruption": "ORPHA:167635", "Generalized papular and sclerodermoid lichen myxedematosus": "ORPHA:167635", "Pyruvate dehydrogenase deficiency": "ORPHA:765", "PDH": "ORPHA:765", "PDHC": "ORPHA:765", "Pyruvate dehydrogenase complex deficiency": "ORPHA:765", "Homocystinuria due to methylene tetrahydrofolate reductase deficiency": "ORPHA:395", "MTHFR deficiency": "ORPHA:395", "Methylene tetrahydrofolate reductase deficiency": "ORPHA:395", "Isolated glycerol kinase deficiency": "ORPHA:408", "Hyperglycerolemia": "ORPHA:408", "Multiple carboxylase deficiency": "ORPHA:148", "MCD": "ORPHA:98969", "Carbamoyl-phosphate synthetase 1 deficiency": "ORPHA:147", "CPS1 deficiency": "ORPHA:147", "CPS1D": "ORPHA:147", "Carbamoyl-phosphate synthetase I deficiency": "ORPHA:147", "Carbamoyl-phosphate synthetase deficiency": "ORPHA:147", "Argininosuccinic aciduria": "ORPHA:23", "ASA deficiency": "ORPHA:23", "ASL deficiency": "ORPHA:23", "Argininosuccinase deficiency": "ORPHA:23", "Argininosuccinatelyase deficiency": "ORPHA:23", "Argininosuccinic acid lyase deficiency": "ORPHA:23", "Adenosine monophosphate deaminase deficiency": "ORPHA:45", "AMP deaminase deficiency": "ORPHA:45", "Myoadenylate deaminase deficiency": "ORPHA:45", "Rare hemorrhagic disorder due to an acquired coagulation factor defect": "ORPHA:166775", "Rare bleeding disorder due to an acquired coagulation factor defect": "ORPHA:166775", "Rare coagulopathy due to an acquired coagulation factor defect": "ORPHA:166775", "Dihydropteridine reductase deficiency": "ORPHA:226", "Hyperphenylalaninemia due to dihydropteridine reductase deficiency": "ORPHA:226", "PKU type 2": "ORPHA:226", "Phenylketonuria type 2": "ORPHA:226", "Isolated Dandy-Walker malformation": "ORPHA:217", "Dandy-Walker malformation-facial hemangioma syndrome": "ORPHA:1564", "Cutis marmorata telangiectatica congenita": "ORPHA:1556", "CMTC": "ORPHA:1556", "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome": "ORPHA:1538", "Braddock-Jones-Superneau syndrome": "ORPHA:1538", "Corpus callosum agenesis-neuronopathy syndrome": "ORPHA:1496", "Andermann syndrome": "ORPHA:1496", "Charlevoix disease": "ORPHA:1496", "Neonatal severe primary hyperparathyroidism": "ORPHA:417", "NSHPT": "ORPHA:417", "Hypogonadism-mitral valve prolapse-intellectual disability syndrome": "ORPHA:2233", "Cantalamessa-Baldini-Ambrosi syndrome": "ORPHA:2233", "Hypoplastic left heart syndrome": "ORPHA:2248", "HLHS": "ORPHA:2248", "Neonatal hemochromatosis": "ORPHA:446", "Cutaneous mastocytosis-deafness-microtia syndrome": "ORPHA:2135", "Cutaneous mastocytosis-hearing loss-microtia syndrome": "ORPHA:2135", "Mastocytosis-short stature-deafness syndrome": "ORPHA:2135", "Mastocytosis-short stature-hearing loss syndrome": "ORPHA:2135", "Congenital diaphragmatic hernia": "ORPHA:2140", "CDH": "ORPHA:2140", "Congenital hydrocephalus": "ORPHA:2185", "Congenital hypothalamic hamartoma syndrome": "ORPHA:2113", "CHHS": "ORPHA:2113", "Hartnup disease": "ORPHA:2116", "Aminoaciduria, Hartnup type": "ORPHA:2116", "Hartnup disorder": "ORPHA:2116", "Hawkinsinuria": "ORPHA:2118", "4-HPPD deficiency": "ORPHA:2118", "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency": "ORPHA:2118", "4-hydroxyphenylpyruvic acid dioxygenase deficiency": "ORPHA:2118", "Rare cardiomyopathy": "ORPHA:167848", "Galactosialidosis": "ORPHA:351", "Goldberg syndrome": "ORPHA:351", "Neuraminidase deficiency with beta-galactosidase deficiency": "ORPHA:351", "Goldenhar syndrome": "ORPHA:141132", "Facioauriculovertebral sequence": "ORPHA:374", "Congenital fiber-type disproportion myopathy": "ORPHA:2020", "CFTDM": "ORPHA:2020", "OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome": "ORPHA:2005", "OBSOLETE: Novak syndrome": "ORPHA:2005", "Freeman-Sheldon syndrome": "ORPHA:2053", "Craniocarpotarsal dysplasia": "ORPHA:2053", "Craniocarpotarsal dystrophy": "ORPHA:2053", "Distal arthrogryposis type 2A": "ORPHA:2053", "Freeman-Burian syndrome": "ORPHA:2053", "Whistling face syndrome": "ORPHA:2053", "Frontal encephalocele": "ORPHA:1931", "Anterior encephalocele": "ORPHA:1931", "Fetal parvovirus syndrome": "ORPHA:295", "Mother-to-child transmission of parvovirus syndrome": "ORPHA:295", "Parvovirus antenatal infection": "ORPHA:295", "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria": "ORPHA:1933", "Booth-Haworth-Dilling syndrome": "ORPHA:1933", "Mitochondrial encephalomyopathy-aminoacidopathy syndrome": "ORPHA:1933", "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria": "ORPHA:1933", "Ebstein malformation of the tricuspid valve": "ORPHA:1880", "Ebstein anomaly of the tricuspid valve": "ORPHA:1880", "Dopa-responsive dystonia": "ORPHA:255", "HPD with diurnal fluctuation": "ORPHA:255", "Hereditary progressive dystonia with diurnal fluctuation": "ORPHA:255", "Fetal alcohol syndrome": "ORPHA:1915", "ARBD": "ORPHA:1915", "ARND": "ORPHA:1915", "Alcohol-related birth defects": "ORPHA:1915", "Alcohol-related neurodevelopmental disorder": "ORPHA:1915", "FAS": "ORPHA:1915", "FASD": "ORPHA:1915", "Fetal alcohol spectrum disorders": "ORPHA:1915", "Isolated ectopia lentis": "ORPHA:1885", "Ectopia lentis syndrome": "ORPHA:1885", "Familial ectopia lentis": "ORPHA:1885", "Multicystic dysplastic kidney": "ORPHA:1851", "MCDK": "ORPHA:1851", "Multicystic renal dysplasia": "ORPHA:1851", "Omphalocele": "ORPHA:660", "Rare vulvovaginal tumor": "ORPHA:180312", "Neuroblastoma": "ORPHA:635", "Linear nevus sebaceus syndrome": "ORPHA:2612", "Nevus sebaceus of Jadassohn": "ORPHA:2612", "Nevus sebaceus syndrome": "ORPHA:2612", "Organoid nevus syndrome": "ORPHA:2612", "Schimmelpenning syndrome": "ORPHA:2612", "Solomon syndrome": "ORPHA:2612", "Metatropic dysplasia": "ORPHA:2635", "Metatropic dwarfism": "ORPHA:2635", "Thanatophoric dysplasia": "ORPHA:2655", "TD": "ORPHA:2655", "Rare non-malformative uterine adnexal disease": "ORPHA:180303", "Proximal myotonic myopathy": "ORPHA:606", "Myotonic dystrophy type 2": "ORPHA:606", "Proximal myotonic dystrophy": "ORPHA:606", "Ricker disease": "ORPHA:606", "Ricker syndrome": "ORPHA:606", "Pendred syndrome": "ORPHA:705", "Goiter-deafness syndrome": "ORPHA:705", "Goiter-hearing loss syndrome": "ORPHA:705", "Syndromic diaphragmatic or thoracic malformation": "ORPHA:180779", "NON RARE IN EUROPE: Peyronie syndrome": "ORPHA:2870", "NON RARE IN EUROPE: Induratio penis plastica": "ORPHA:2870", "NON RARE IN EUROPE: Plastic induration of penis": "ORPHA:2870", "Non-syndromic diaphragmatic or thoracic malformation": "ORPHA:180776", "Juvenile Paget disease": "ORPHA:2801", "Familial osteoectasia": "ORPHA:2801", "Hereditary hyperphosphatasia": "ORPHA:2801", "Hyperostosis corticalis deformans juvenilis": "ORPHA:2801", "JPG": "ORPHA:2801", "Tetrasomy 12p syndrome": "ORPHA:884", "Isochromosome 12p mosaicism": "ORPHA:884", "Isochromosome 12p syndrome": "ORPHA:884", "Pallister-Killian syndrome": "ORPHA:884", "Rare disease with autism": "ORPHA:180772", "Malformative syndrome with dentinogenesis imperfecta": "ORPHA:180766", "Osteopetrosis with renal tubular acidosis": "ORPHA:2785", "Carbonic anhydrase 2 deficiency": "ORPHA:2785", "Guibaud-Vainsel syndrome": "ORPHA:2785", "Marble brain disease": "ORPHA:2785", "Mixed RTA": "ORPHA:2785", "Mixed renal tubular acidosis": "ORPHA:2785", "Renal tubular acidosis type 3": "ORPHA:2785", "Horizontal gaze palsy with progressive scoliosis": "ORPHA:2744", "HGPPS": "ORPHA:2744", "Progressive external ophthalmoplegia and scoliosis": "ORPHA:2744", "Opsismodysplasia": "ORPHA:2746", "Peroxisomal acyl-CoA oxidase deficiency": "ORPHA:2971", "Pseudo-NALD": "ORPHA:2971", "Pseudo-neonatal adrenoleukodystrophy": "ORPHA:2971", "Pseudoadrenoleukodystrophy": "ORPHA:2971", "Prune belly syndrome": "ORPHA:2970", "Abdominal muscle deficiency syndrome": "ORPHA:2970", "Eagle-Barret syndrome": "ORPHA:2970", "Obrinsky syndrome": "ORPHA:2970", "Triad syndrome": "ORPHA:2970", "Proteus syndrome": "ORPHA:744", "Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome": "ORPHA:744", "Familial spontaneous pneumothorax": "ORPHA:2903", "Neuralgic amyotrophy": "ORPHA:2901", "Acute brachial plexus neuritis": "ORPHA:2901", "Brachial plexus neuritis": "ORPHA:2901", "Immune brachial plexus neuropathy": "ORPHA:2901", "Mononeuritis multiplex with brachial predilection": "ORPHA:2901", "Neuralgic shoulder amyotrophy": "ORPHA:2901", "Isolated Pierre Robin sequence": "ORPHA:718", "PRS": "ORPHA:718", "Rare gastroesophageal tumor": "ORPHA:180821", "Rare tumor of pancreas": "ORPHA:180824", "Rare pancreatic tumor": "ORPHA:180824", "OBSOLETE: Catecholamine-producing tumor": "ORPHA:717", "Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism": "ORPHA:181387", "Congenital rubella syndrome": "ORPHA:290", "CRS": "ORPHA:290", "Fetal rubella syndrome": "ORPHA:290", "Mother-to-child transmission of rubella syndrome": "ORPHA:290", "Costello syndrome": "ORPHA:3071", "FCS syndrome": "ORPHA:3071", "Faciocutaneoskeletal syndrome": "ORPHA:3071", "Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature": "ORPHA:181390", "Other rare diabetes mellitus": "ORPHA:181381", "Rare hypothalamic or pituitary disease": "ORPHA:181384", "Rare diabetes mellitus type 1": "ORPHA:181371", "Rare insulin-dependent diabetes mellitus": "ORPHA:181371", "Pycnodysostosis": "ORPHA:763", "Pyknodysostosis": "ORPHA:763", "Rare diabetes mellitus type 2": "ORPHA:181376", "Rare insulin-independent diabetes mellitus": "ORPHA:181376", "Difference of sex development-intellectual disability syndrome": "ORPHA:2983", "Disorder of sex development-intellectual disability syndrome": "ORPHA:2983", "Verloes-Gillerot-Fryns syndrome": "ORPHA:2983", "46,XX difference of sex development": "ORPHA:2982", "46,XX DSD": "ORPHA:2982", "46,XX disorder of sex development": "ORPHA:2982", "Rare insulin-resistance syndrome": "ORPHA:181368", "Pseudo-Zellweger syndrome": "ORPHA:2981", "Thiolase deficiency": "ORPHA:2981", "Rare non-malformative breast disease": "ORPHA:180202", "Congenital short bowel syndrome": "ORPHA:2301", "Rare non-malformative gynecologic or obstetric disease": "ORPHA:180199", "Hereditary fructose intolerance": "ORPHA:469", "Hereditary fructose-1-phosphate aldolase deficiency": "ORPHA:469", "Hereditary fructosemia": "ORPHA:469", "Anomaly of puberty or/and menstrual cycle": "ORPHA:180208", "Jacobsen syndrome": "ORPHA:2308", "11q terminal deletion syndrome": "ORPHA:2308", "Chromosome 11q deletion syndrome": "ORPHA:2308", "Del(11)(q23.3)": "ORPHA:2308", "Del(11)(qter)": "ORPHA:2308", "Distal deletion 11q": "ORPHA:2308", "Distal monosomy 11q": "ORPHA:2308", "Monosomy 11qter": "ORPHA:2308", "Telomeric deletion 11q": "ORPHA:2308", "Rare non-malformative uterovaginal or vulvovaginal disease": "ORPHA:180205", "Joubert syndrome with oculorenal defect": "ORPHA:2318", "Arima syndrome": "ORPHA:2318", "CORS": "ORPHA:2318", "Cerebellooculorenal syndrome": "ORPHA:2318", "Dekaban-Arima syndrome": "ORPHA:2318", "JS type B": "ORPHA:2318", "JS-OR": "ORPHA:2318", "Joubert syndrome with Senior-Loken syndrome": "ORPHA:2318", "Foveal hypoplasia-presenile cataract syndrome": "ORPHA:2253", "O'Donnell-Pappas syndrome": "ORPHA:2253", "Isolated congenital breast hypoplasia/aplasia": "ORPHA:180188", "Isolated congenital amastia": "ORPHA:180188", "Supernumerary breasts": "ORPHA:180182", "Accessory breasts": "ORPHA:180182", "Polymastia": "ORPHA:180182", "Syndromic breast hypoplasia/aplasia": "ORPHA:180193", "Multiple intestinal atresia": "ORPHA:2300", "Familial intestinal polyatresia syndrome": "ORPHA:2300", "Embryonal carcinoma": "ORPHA:180226", "Trichorhinophalangeal syndrome type 2": "ORPHA:502", "Langer-Giedion syndrome": "ORPHA:502", "Polyembryoma": "ORPHA:180229", "Larsen-like osseous dysplasia-short stature syndrome": "ORPHA:2370", "KID syndrome": "ORPHA:477", "Ichthyosis hystrix Rheydt type": "ORPHA:477", "KID/HID syndrome": "ORPHA:477", "Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome": "ORPHA:477", "Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome": "ORPHA:477", "Senter syndrome": "ORPHA:477", "OBSOLETE: Isolated cloverleaf skull syndrome": "ORPHA:2343", "Rare uterine adnexal tumor": "ORPHA:180220", "Angioosteohypertrophic syndrome": "ORPHA:2346", "Klippel-Tr\u00e9naunay-Weber syndrome": "ORPHA:2346", "Vaginal carcinoma": "ORPHA:180247", "Vaginal malignant epithelial tumor": "ORPHA:180247", "Leigh syndrome": "ORPHA:506", "Infantile subacute necrotizing encephalopathy": "ORPHA:506", "Leigh disease": "ORPHA:506", "Rare breast tumor": "ORPHA:180250", "Congenital macroglossia": "ORPHA:2430", "Rare benign breast tumor": "ORPHA:180253", "Congenital pulmonary lymphangiectasia": "ORPHA:2414", "Pulmonary lymphangiomatosis": "ORPHA:2414", "Congenital laryngomalacia": "ORPHA:2373", "Mixed germ cell tumor": "ORPHA:180234", "Benign tumor of fallopian tubes": "ORPHA:180237", "Laurence-Moon syndrome": "ORPHA:2377", "LMS": "ORPHA:69085", "Isolated congenital laryngeal web": "ORPHA:2374", "Malignant tumor of fallopian tubes": "ORPHA:180242", "Cancer of fallopian tubes": "ORPHA:180242", "Malignant tubal tumor": "ORPHA:180242", "Tubal cancer": "ORPHA:180242", "MASA syndrome": "ORPHA:2466", "Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome": "ORPHA:2466", "Paget disease of the nipple": "ORPHA:180275", "Mammary Paget disease": "ORPHA:180275", "Paget disease of the breast": "ORPHA:180275", "Paget's disease of the nipple": "ORPHA:180275", "Marshall syndrome": "ORPHA:560", "Muir-Torre syndrome": "ORPHA:587", "Multiple keratoacanthoma, Muir-Torre type": "ORPHA:587", "NON RARE IN EUROPE: Benign ductal tumor of breast": "ORPHA:180284", "Moebius syndrome": "ORPHA:570", "M\u00f6bius syndrome": "ORPHA:570", "Short rib-polydactyly syndrome": "ORPHA:1505", "Rare malignant breast tumor": "ORPHA:180257", "Rare breast cancer": "ORPHA:180257", "Phyllodes tumor of the breast": "ORPHA:180261", "Central bilateral macrogyria": "ORPHA:2431", "Giant adenofibroma of the breast": "ORPHA:180267", "Congenital pulmonary airway malformation": "ORPHA:2444", "CCAM": "ORPHA:2444", "CPAM": "ORPHA:2444", "Congenital cystic adenomatoid malformation of the lung": "ORPHA:2444", "Congenital cystic adenomatous malformation of the lung": "ORPHA:2444", "Congenital cystic disease of the lung": "ORPHA:2444", "Potassium-aggravated myotonia": "ORPHA:612", "K+-aggravated myotonia": "ORPHA:612", "K-aggravated myotonia": "ORPHA:612", "PAM": "ORPHA:612", "Obesity due to leptin receptor gene deficiency": "ORPHA:179494", "Phenylketonuria": "ORPHA:716", "PAH deficiency": "ORPHA:716", "PKU": "ORPHA:716", "Phenylalanine hydroxylase deficiency": "ORPHA:716", "Obesity due to congenital leptin resistance": "ORPHA:179490", "Unilateral aplasia of the M\u00fcllerian ducts": "ORPHA:180071", "Unicornuate uterus": "ORPHA:180071", "Partial bilateral aplasia of the M\u00fcllerian ducts": "ORPHA:180068", "Incomplete bilateral aplasia of the M\u00fcllerian ducts": "ORPHA:180068", "Non-syndromic uterovaginal malformation": "ORPHA:180065", "Classical Ehlers-Danlos syndrome": "ORPHA:287", "Classical EDS": "ORPHA:287", "cEDS": "ORPHA:287", "Uterovaginal malformation": "ORPHA:180062", "Bicervical bicornuate uterus and blind hemivagina": "ORPHA:180106", "Didelphys uterus": "ORPHA:180086", "Bicervical bicornuate uterus": "ORPHA:180086", "Pseudounicornuate uterus": "ORPHA:180079", "Incomplete unilateral M\u00fcllerian aplasia": "ORPHA:180079", "Incomplete unilateral aplasia of the M\u00fcllerian ducts": "ORPHA:180079", "Unicornuate uterus with rudimentary horn": "ORPHA:180079", "True unicornuate uterus": "ORPHA:180074", "Complete unilateral M\u00fcllerian aplasia": "ORPHA:180074", "Complete unilateral aplasia of the M\u00fcllerian ducts": "ORPHA:180074", "Unicornuate uterus without rudimentary horn": "ORPHA:180074", "Septate uterus": "ORPHA:180122", "NON RARE IN EUROPE: Cordiform uterus": "ORPHA:180118", "NON RARE IN EUROPE: Uterus arcuatus": "ORPHA:180118", "NON RARE IN EUROPE: Uterus cordiformis": "ORPHA:180118", "Unicervical bicornuate uterus": "ORPHA:180114", "Bicervical bicornuate uterus with patent cervix and vagina": "ORPHA:180111", "Bicornuate uterus": "ORPHA:180134", "Uterine hypoplasia": "ORPHA:180139", "Complete septate uterus": "ORPHA:180126", "Total septate uterus": "ORPHA:180126", "Partial septate uterus": "ORPHA:180129", "Subtotal septate uterus": "ORPHA:180129", "Uterus subseptus": "ORPHA:180129", "Syndromic uterovaginal malformation": "ORPHA:180148", "Early-onset autosomal dominant Alzheimer disease": "ORPHA:1020", "EOFAD": "ORPHA:1020", "Early-onset familial autosomal dominant Alzheimer disease": "ORPHA:1020", "Familial Alzheimer disease": "ORPHA:1020", "Rare vaginal malformation": "ORPHA:180151", "Alport syndrome": "ORPHA:63", "Alport deafness-nephropathy": "ORPHA:63", "Alport hearing loss-nephropathy": "ORPHA:63", "X-linked recessive ocular albinism": "ORPHA:54", "OA1": "ORPHA:54", "Ocular albinism type 1": "ORPHA:54", "Ocular albinism, Nettleship-Falls type": "ORPHA:54", "XLOA": "ORPHA:54", "Absence of uterine body": "ORPHA:180142", "Uterine cervical aplasia and agenesis": "ORPHA:180145", "Transverse vaginal septum": "ORPHA:180160", "Familial isolated dilated cardiomyopathy": "ORPHA:154", "Familial or idiopathic dilated cardiomyopathy": "ORPHA:154", "Rare breast malformation": "ORPHA:180163", "Fanconi anemia": "ORPHA:84", "Fanconi pancytopenia": "ORPHA:84", "Septate vagina": "ORPHA:180154", "Proximal spinal muscular atrophy": "ORPHA:70", "SMA": "ORPHA:70", "Amyloidosis": "ORPHA:69", "Longitudinal vaginal septum": "ORPHA:180157", "Deficient breast volume or number": "ORPHA:180173", "Familial juvenile hypertrophy of the breast": "ORPHA:180176", "Familial juvenile gigantomastia": "ORPHA:180176", "Virginal breast hypertrophy": "ORPHA:180176", "Cockayne syndrome": "ORPHA:191", "Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy": "ORPHA:166", "CMT/HMSN": "ORPHA:166", "Charcot-Marie-Tooth hereditary neuropathy": "ORPHA:166", "NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy": "ORPHA:155", "NON RARE IN EUROPE: Familial isolated hypertrophic obstructive cardiomyopathy": "ORPHA:155", "NON RARE IN EUROPE: Familial isolated hypertrophic subaortic stenosis": "ORPHA:155", "NON RARE IN EUROPE: Familial or idiopathic hypertrophic subaortic stenosis": "ORPHA:155", "NON RARE IN EUROPE: Familila or idiopathic hypertrophic obstructive cardiomyopathy": "ORPHA:155", "NON RARE IN EUROPE: Hypertrophic obstructive cardiomyopathy": "ORPHA:155", "NON RARE IN EUROPE: Primitive hypertrophic obstructive cardiomyopathy": "ORPHA:155", "NON RARE IN EUROPE: Primitive hypertrophic subaortic stenosis": "ORPHA:155", "Excess breast volume or number": "ORPHA:180170", "Aggressive primary cutaneous T-cell lymphoma": "ORPHA:178551", "Indolent primary cutaneous T-cell lymphoma": "ORPHA:178548", "Free sialic acid storage disease": "ORPHA:834", "FSASD": "ORPHA:834", "Free sialic acid storage disorder": "ORPHA:834", "Indolent primary cutaneous B-cell lymphoma": "ORPHA:178557", "Aggressive primary cutaneous B-cell lymphoma": "ORPHA:178554", "NON RARE IN EUROPE: Scheuermann's disease": "ORPHA:3135", "NON RARE IN EUROPE: Scheuermann juvenile kyphosis": "ORPHA:3135", "NON RARE IN EUROPE: Spinal osteochondrosis": "ORPHA:3135", "Schizencephaly": "ORPHA:799", "Primary cutaneous B-cell lymphoma": "ORPHA:178563", "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome": "ORPHA:3151", "Mycosis fungoides and variants": "ORPHA:178566", "Silver-Russell syndrome": "ORPHA:813", "Silver-Russell dwarfism": "ORPHA:813", "Sirenomelia": "ORPHA:3169", "Sj\u00f6gren-Larsson syndrome": "ORPHA:816", "Fatty acid alcohol oxidoreductase deficiency": "ORPHA:816", "Sotos syndrome": "ORPHA:821", "Cerebral gigantism": "ORPHA:821", "Infantile spasms-broad thumbs syndrome": "ORPHA:3173", "Tsao-Ellingson syndrome": "ORPHA:3173", "Stormorken-Sjaastad-Langslet syndrome": "ORPHA:3204", "Stormorken syndrome": "ORPHA:3204", "Thrombocytopathy-asplenia-miosis syndrome": "ORPHA:3204", "Sturge-Weber syndrome": "ORPHA:3205", "Encephalofacial angiomatosis": "ORPHA:3205", "Encephalotrigeminal angiomatosis": "ORPHA:3205", "SWS": "ORPHA:3206", "Sturge-Weber-Dimitri syndrome": "ORPHA:3205", "Sturge-Weber-Krabbe angiomatosis": "ORPHA:3205", "Sturge-Weber-Krabbe syndrome": "ORPHA:3205", "Thrombocytopenia-absent radius syndrome": "ORPHA:3320", "TAR syndrome": "ORPHA:3320", "Acquired neutropenia": "ORPHA:178996", "Immunologic neutropenia": "ORPHA:178996", "Tracheal agenesis": "ORPHA:3346", "Tracheal atresia": "ORPHA:3346", "Primary immunodeficiency due to a defect in adaptive immunity": "ORPHA:179006", "Congenital toxoplasmosis": "ORPHA:858", "Mother-to-child transmission of toxoplasmosis": "ORPHA:858", "Toxoplasma embryofetopathy": "ORPHA:858", "Toxoplasma embryopathy": "ORPHA:858", "BIDS syndrome": "ORPHA:1245", "Amish brittle hair syndrome": "ORPHA:1245", "Trichothiodystrophy type D": "ORPHA:1245", "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome": "ORPHA:3390", "VACTERL/VATER association": "ORPHA:887", "VACTERL association": "ORPHA:887", "VATER association": "ORPHA:887", "Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association": "ORPHA:887", "Congenital varicella syndrome": "ORPHA:291", "Antenatal varicella virus infection": "ORPHA:291", "Mother-to-child transmission of varicella syndrome": "ORPHA:291", "Cerebrotendinous xanthomatosis": "ORPHA:909", "CTX": "ORPHA:909", "Sterol 27-hydroxylase deficiency": "ORPHA:909", "Weaver syndrome": "ORPHA:3447", "EZH2-related overgrowth syndrome": "ORPHA:3447", "Syndrome d'hypercroissance associ\u00e9 \u00e0 EZH2": "ORPHA:3447", "Chondrodysplasia-difference of sex development syndrome": "ORPHA:1422", "Chondrodysplasia-disorder of sex development syndrome": "ORPHA:1422", "Chondrodysplasia-pseudohermaphroditism syndrome": "ORPHA:1422", "Nivelon-Nivelon-Mabille syndrome": "ORPHA:1422", "Infant botulism": "ORPHA:178478", "Infant intestinal botulism": "ORPHA:178478", "Infant intestinal toxemia botulism": "ORPHA:178478", "Infant intestinal toxin-mediated botulism": "ORPHA:178478", "Infantile botulism": "ORPHA:178478", "Intestinal botulism": "ORPHA:178481", "Intestinal colonization botulism": "ORPHA:178481", "Intestinal toxemia botulism": "ORPHA:178481", "Intestinal toxin-mediated botulism": "ORPHA:178481", "Autosomal dominant non-syndromic intellectual disability": "ORPHA:178469", "Wound botulism": "ORPHA:178475", "Cutaneous infectious botulism": "ORPHA:178475", "Cutaneous toxin-mediated botulism": "ORPHA:178475", "Inoculation botulism": "ORPHA:178475", "Skin infectious botulism": "ORPHA:178475", "Skin toxin-mediated botulism": "ORPHA:178475", "X-linked myopathy with postural muscle atrophy": "ORPHA:178461", "XMPMA": "ORPHA:178461", "Hereditary myopathy with early respiratory failure": "ORPHA:178464", "Edstr\u00f6m Myopathy": "ORPHA:178464", "HIBM-ERF": "ORPHA:178464", "HMERF": "ORPHA:178464", "Hereditary inclusion body myopathy with early respiratory failure": "ORPHA:178464", "MFM-titinopathy": "ORPHA:178464", "Myofibrillar myopathy with early respiratory failure": "ORPHA:178464", "Myofibrillar myopathy-titinopathy": "ORPHA:178464", "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation": "ORPHA:178396", "Distal myopathy with anterior tibial onset": "ORPHA:178400", "Distal anterior compartment myopathy": "ORPHA:178400", "Congenital vertical talus": "ORPHA:178382", "Congenital convex foot": "ORPHA:178382", "Congenital convex pes valgus": "ORPHA:178382", "Congenital rocker-bottom foot": "ORPHA:178382", "Osteopetrosis-hypogammaglobulinemia syndrome": "ORPHA:178389", "Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia": "ORPHA:178389", "Autosomal recessive osteopetrosis type 7": "ORPHA:178389", "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3": "ORPHA:62", "Alpha-sarcoglycan-related LGMD R3": "ORPHA:62", "Alpha-sarcoglycanopathy": "ORPHA:62", "Autosomal recessive limb-girdle muscular dystrophy type 2D": "ORPHA:62", "LGMD due to alpha-sarcoglycan deficiency": "ORPHA:62", "LGMD type 2D": "ORPHA:62", "LGMD2D": "ORPHA:62", "Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency": "ORPHA:62", "Limb-girdle muscular dystrophy type 2D": "ORPHA:62", "Syndromic microphthalmia type 5": "ORPHA:178364", "MCOPS5": "ORPHA:178364", "Syndromic microphthalmia/anophthalmia due to OTX2 mutation": "ORPHA:178364", "Glycogen storage disease due to muscle phosphorylase kinase deficiency": "ORPHA:715", "GSD due to muscle phosphorylase kinase deficiency": "ORPHA:715", "GSD type 9D": "ORPHA:715", "GSD type 9E": "ORPHA:715", "GSD type IXd": "ORPHA:715", "GSD type IXe": "ORPHA:715", "Glycogen storage disease type 9D": "ORPHA:715", "Glycogen storage disease type 9E": "ORPHA:715", "Glycogen storage disease type IXd": "ORPHA:715", "Glycogen storage disease type IXe": "ORPHA:715", "Glycogenosis due to muscle phosphorylase kinase deficiency": "ORPHA:715", "Glycogenosis type 9D": "ORPHA:715", "Glycogenosis type 9E": "ORPHA:715", "Glycogenosis type IXd": "ORPHA:715", "Glycogenosis type IXe": "ORPHA:715", "Osteosclerosis-developmental delay-craniosynostosis syndrome": "ORPHA:178377", "Fructose-1,6-bisphosphatase deficiency": "ORPHA:348", "FBPase deficiency": "ORPHA:348", "Fructose-1,6-diphosphatase deficiency": "ORPHA:348", "Aromatase excess syndrome": "ORPHA:178345", "AEXS": "ORPHA:178345", "Familial hyperestrogenism": "ORPHA:178345", "Hereditary prepubertal gynecomastia": "ORPHA:178345", "Smith-McCort dysplasia": "ORPHA:178355", "UV-sensitive syndrome": "ORPHA:178338", "Alpha-N-acetylgalactosaminidase deficiency": "ORPHA:3137", "NAGA deficiency": "ORPHA:3137", "Schindler disease": "ORPHA:3137", "NON RARE IN EUROPE: Vitiligo": "ORPHA:3435", "Inflammatory myofibroblastic tumor": "ORPHA:178342", "Primary cutaneous diffuse large B-cell lymphoma, leg type": "ORPHA:178544", "PCDLBCL,LT": "ORPHA:178544", "Primary cutaneous follicle center lymphoma": "ORPHA:178540", "PCFCL": "ORPHA:178540", "Beh\u00e7et disease": "ORPHA:117", "Polymyositis": "ORPHA:732", "Primary cutaneous marginal zone B-cell lymphoma": "ORPHA:178536", "PCMZL": "ORPHA:178536", "Primary cutaneous gamma/delta-positive T-cell lymphoma": "ORPHA:178533", "Dermatomyositis": "ORPHA:221", "Adult dermatomyositis": "ORPHA:221", "Multiminicore myopathy": "ORPHA:598", "MmD": "ORPHA:598", "Multiminicore disease": "ORPHA:598", "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma": "ORPHA:178528", "Berti lymphoma": "ORPHA:178528", "Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma": "ORPHA:178528", "Sporadic Creutzfeldt-Jakob disease": "ORPHA:204", "Sporadic CJD": "ORPHA:204", "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma": "ORPHA:178522", "Localized pagetoid reticulosis": "ORPHA:178517", "Pagetoid reticulosis, Woringer-Kolopp type": "ORPHA:178517", "Folliculotropic mycosis fungoides": "ORPHA:178512", "Mycosis fungoides-associated follicular mucinosis": "ORPHA:178512", "Perry syndrome": "ORPHA:178509", "Parkinsonism with alveolar hypoventilation and mental depression": "ORPHA:178509", "Brain calcification, Rajab type": "ORPHA:178506", "Dursun syndrome": "ORPHA:178503", "Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome": "ORPHA:178503", "Inclusion body myositis": "ORPHA:611", "IBM": "ORPHA:611", "Sporadic inclusion body myositis": "ORPHA:611", "sIBM": "ORPHA:611", "NON RARE IN EUROPE: Myopic macular degeneration": "ORPHA:178493", "NON RARE IN EUROPE: Myopic maculopathy": "ORPHA:178493", "Adult intestinal botulism": "ORPHA:178487", "Adult intestinal colonization botulism": "ORPHA:178487", "Adult intestinal toxemia botulism": "ORPHA:178487", "Adult intestinal toxin-mediated botulism": "ORPHA:178487", "Infant-like botulism": "ORPHA:178487", "Bleeding disorder in hemophilia A carriers": "ORPHA:177926", "Mucopolysaccharidosis type 3": "ORPHA:581", "MPS3": "ORPHA:581", "MPSIII": "ORPHA:581", "Mucopolysaccharidosis type III": "ORPHA:581", "Sanfilippo disease": "ORPHA:581", "Sanfilippo syndrome": "ORPHA:581", "Bleeding disorder in hemophilia B carriers": "ORPHA:177929", "Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations": "ORPHA:178025", "Hereditary spastic paraplegia": "ORPHA:685", "Familial spastic paraplegia": "ORPHA:685", "HSP": "ORPHA:685", "Hereditary spastic paraparesis": "ORPHA:685", "SPG": "ORPHA:685", "Str\u00fcmpell-Lorrain disease": "ORPHA:685", "Osteogenesis imperfecta": "ORPHA:666", "Brittle bone disease": "ORPHA:666", "Glass bone disease": "ORPHA:666", "Lobstein disease": "ORPHA:666", "OI": "ORPHA:666", "Arginine vasopressin deficiency": "ORPHA:178029", "CDI": "ORPHA:178029", "Neurogenic diabetes insipidus": "ORPHA:178029", "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1": "ORPHA:177901", "Malignant hyperthermia of anesthesia": "ORPHA:423", "Hyperthermia of anesthesia": "ORPHA:423", "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2": "ORPHA:177904", "Congenital adrenal hyperplasia": "ORPHA:418", "CAH": "ORPHA:418", "Prader-Willi syndrome due to translocation": "ORPHA:177907", "Prader-Willi syndrome due to imprinting mutation": "ORPHA:177910", "Neuronal ceroid lipofuscinosis": "ORPHA:216", "CLN disease": "ORPHA:216", "NCL": "ORPHA:216", "NCL disease": "ORPHA:216", "Glycogen storage disease due to glucose-6-phosphatase deficiency": "ORPHA:364", "G6P deficiency": "ORPHA:364", "GSD due to G6P deficiency": "ORPHA:364", "GSD type 1": "ORPHA:364", "GSD type I": "ORPHA:364", "Glycogen storage disease due to G6P deficiency": "ORPHA:364", "Glycogen storage disease type 1": "ORPHA:364", "Glycogen storage disease type I": "ORPHA:364", "Glycogenosis type 1": "ORPHA:364", "Glycogenosis type I": "ORPHA:364", "Hepatorenal glycogenosis": "ORPHA:364", "Von Gierke disease": "ORPHA:364", "Rare adult hypothyroidism": "ORPHA:177101", "Gaucher disease": "ORPHA:355", "Acid beta-glucosidase deficiency": "ORPHA:355", "Glucocerebrosidase deficiency": "ORPHA:355", "Hirschsprung disease": "ORPHA:388", "Aganglionic megacolon": "ORPHA:388", "Colonic aganglionosis": "ORPHA:388", "Congenital intestinal aganglionosis": "ORPHA:388", "HSCR": "ORPHA:388", "Syndromic hypothyroidism": "ORPHA:177107", "Hemophilia": "ORPHA:448", "Epidermolysis bullosa simplex": "ORPHA:304", "EBS": "ORPHA:304", "Congenital hypogonadotropic hypogonadism": "ORPHA:174590", "GM1 gangliosidosis": "ORPHA:354", "Beta-galactosidase-1 deficiency": "ORPHA:354", "GLB1 deficiency": "ORPHA:354", "Landing disease": "ORPHA:354", "Acute lung injury": "ORPHA:178320", "Undifferentiated embryonal sarcoma of the liver": "ORPHA:178315", "Embryonal sarcoma of the liver": "ORPHA:178315", "UES": "ORPHA:178315", "Undifferentiated sarcoma of the liver": "ORPHA:178315", "\u00c5land Islands eye disease": "ORPHA:178333", "AIED": "ORPHA:178333", "Forsius-Eriksson syndrome": "ORPHA:178333", "Forsius-Eriksson type ocular albinism": "ORPHA:178333", "NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency": "ORPHA:362", "NON RARE IN EUROPE: Favism": "ORPHA:362", "NON RARE IN EUROPE: G6PD deficiency": "ORPHA:362", "Purine nucleoside phosphorylase deficiency": "ORPHA:760", "PNP deficiency": "ORPHA:760", "PNPase deficiency": "ORPHA:760", "OBSOLETE: Heinz body anemia": "ORPHA:178330", "Oculopharyngeal muscular dystrophy": "ORPHA:270", "OPMD": "ORPHA:270", "8q22.1 microdeletion syndrome": "ORPHA:178303", "Monosomy 8q22.1": "ORPHA:178303", "Nablus mask-like facial syndrome": "ORPHA:178303", "Primary ciliary dyskinesia": "ORPHA:244", "PCD": "ORPHA:623626", "Antenatal multiminicore disease with arthrogryposis multiplex congenita": "ORPHA:178148", "Isolated sternocostoclavicular hyperostosis": "ORPHA:178311", "Isolated SCCH": "ORPHA:178311", "Reticulate acropigmentation of Kitamura": "ORPHA:178307", "RAK": "ORPHA:178307", "Myasthenia gravis": "ORPHA:589", "Acquired myasthenia": "ORPHA:589", "Autoimmune myasthenia gravis": "ORPHA:589", "Tuberous sclerosis complex": "ORPHA:805", "Bourneville syndrome": "ORPHA:805", "Tuberous sclerosis": "ORPHA:805", "Usher syndrome": "ORPHA:886", "Retinitis pigmentosa-deafness syndrome": "ORPHA:886", "Retinitis pigmentosa-hearing loss syndrome": "ORPHA:886", "USH": "ORPHA:886", "Moderate multiminicore disease with hand involvement": "ORPHA:178145", "Waardenburg syndrome": "ORPHA:3440", "Rare peripheral precocious puberty": "ORPHA:178040", "Pelizaeus-Merzbacher disease": "ORPHA:702", "Diffuse familial brain sclerosis": "ORPHA:702", "PMD": "ORPHA:702", "Pelizaeus-Merzbacher brain sclerosis": "ORPHA:702", "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type": "ORPHA:702", "Porphyria": "ORPHA:738", "Familial long QT syndrome": "ORPHA:768", "Congenital long QT syndrome": "ORPHA:768", "LQTS": "ORPHA:768", "Transient congenital hypothyroidism": "ORPHA:178045", "Retinitis pigmentosa": "ORPHA:791", "OBSOLETE: Congenital myopathy with vacuoles": "ORPHA:172985", "Anti-glomerular basement membrane disease": "ORPHA:375", "Anti-GBM syndrome": "ORPHA:375", "Goodpasture syndrome": "ORPHA:375", "OBSOLETE: Osteochondritis of tarsal/metatarsal bone": "ORPHA:2054", "OBSOLETE: Congenital myopathy with central nuclei": "ORPHA:172979", "Eosinophilic granulomatosis with polyangiitis": "ORPHA:183", "Churg-Strauss syndrome": "ORPHA:183", "EGPA": "ORPHA:183", "Granulomatous allergic angiitis": "ORPHA:183", "OBSOLETE: Congenital myopathy with fiber size variation": "ORPHA:172982", "Allergic bronchopulmonary aspergillosis": "ORPHA:1164", "ABPA": "ORPHA:1164", "Allergic aspergillosis": "ORPHA:1164", "Hinson-Pepys disease": "ORPHA:1164", "Locked-in syndrome": "ORPHA:2406", "LIS": "ORPHA:2406", "Pseudocoma": "ORPHA:2406", "Leptospirosis": "ORPHA:509", "Immunoglobulin A vasculitis": "ORPHA:761", "Anaphylactoid purpura": "ORPHA:761", "Henoch-Sch\u00f6nlein purpura": "ORPHA:761", "IgA vasculitis": "ORPHA:761", "Purpura rheumatica": "ORPHA:761", "Rheumatoid purpura": "ORPHA:761", "Alternating hemiplegia of childhood": "ORPHA:2131", "AHC": "ORPHA:595337", "Primary cutaneous T-cell lymphoma": "ORPHA:171901", "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency": "ORPHA:713", "GSD due to phosphoglycerate kinase 1 deficiency": "ORPHA:713", "Glycogenosis due to phosphoglycerate kinase 1 deficiency": "ORPHA:713", "B-cell non-Hodgkin lymphoma": "ORPHA:171915", "B-cell NHL": "ORPHA:171915", "Glycogen storage disease due to aldolase A deficiency": "ORPHA:57", "GSD due to aldolase A deficiency": "ORPHA:57", "GSD type 12": "ORPHA:57", "GSD type XII": "ORPHA:57", "Glycogen storage disease type 12": "ORPHA:57", "Glycogen storage disease type XII": "ORPHA:57", "Glycogenosis due to aldolase A deficiency": "ORPHA:57", "Glycogenosis type 12": "ORPHA:57", "Glycogenosis type XII": "ORPHA:57", "Myeloid hemopathy": "ORPHA:171895", "Lymphoid hemopathy": "ORPHA:171898", "OBSOLETE: Congenital myopathy with protein accumulation": "ORPHA:172973", "Fibrous dysplasia of bone": "ORPHA:249", "Congenital myopathy with cores": "ORPHA:172976", "Autosomal dominant keratitis": "ORPHA:2334", "Hereditary keratitis": "ORPHA:2334", "T-cell non-Hodgkin lymphoma": "ORPHA:171918", "T-cell NHL": "ORPHA:171918", "Leydig cell hypoplasia": "ORPHA:755", "46,XY DSD due to LH resistance or LHB deficiency": "ORPHA:755", "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency": "ORPHA:755", "46,XY disorder of sex development due to LH resistance or LHB deficiency": "ORPHA:755", "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency": "ORPHA:755", "Trisomy 10p syndrome": "ORPHA:171929", "Citrullinemia": "ORPHA:187", "Adenylosuccinate lyase deficiency": "ORPHA:46", "ADSL deficiency": "ORPHA:46", "Adenylosuccinase deficiency": "ORPHA:46", "Congenital hypothyroidism": "ORPHA:442", "X-linked adrenoleukodystrophy": "ORPHA:43", "ALD": "ORPHA:43", "X-ALD": "ORPHA:43", "X-linked ALD": "ORPHA:43", "Sialuria": "ORPHA:3166", "Sialuria, French type": "ORPHA:3166", "Sitosterolemia": "ORPHA:2882", "Phytosterolemia": "ORPHA:2882", "Shigellosis": "ORPHA:810", "Eosinophilic fasciitis": "ORPHA:3165", "Diffuse fasciitis with eosinophilia": "ORPHA:3165", "Shulman syndrome": "ORPHA:3165", "Primary pulmonary lymphoma": "ORPHA:2420", "Microscopic polyangiitis": "ORPHA:727", "MPA": "ORPHA:727", "Micropolyangiitis": "ORPHA:727", "Microscopic polyarteritis": "ORPHA:727", "Granulomatosis with polyangiitis": "ORPHA:900", "GPA": "ORPHA:900", "NON RARE IN EUROPE: Polycystic ovary syndrome": "ORPHA:3185", "NON RARE IN EUROPE: PCOS": "ORPHA:3185", "NON RARE IN EUROPE: Polycystic ovarian syndrome": "ORPHA:3185", "NON RARE IN EUROPE: Stein-Leventhal syndrome": "ORPHA:3185", "Trichinellosis": "ORPHA:863", "Trichinosis": "ORPHA:863", "Parkinsonian-pyramidal syndrome": "ORPHA:171695", "Pallidopyramidal syndrome": "ORPHA:171695", "Beta-ketothiolase deficiency": "ORPHA:134", "3-ketothiolase deficiency": "ORPHA:134", "3-oxothiolase deficiency": "ORPHA:134", "Alpha methylacetoacetic aciduria": "ORPHA:134", "Alpha-methyl-acetoacetyl-CoA thiolase deficiency": "ORPHA:134", "Mitochondrial acetoacetyl-coenzyme A thiolase deficiency": "ORPHA:134", "T2 deficiency": "ORPHA:134", "Diffuse panbronchiolitis": "ORPHA:171700", "Pulmonary agenesis": "ORPHA:984", "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome": "ORPHA:171703", "Short stature-delayed bone age due to thyroid hormone metabolism deficiency": "ORPHA:171706", "Male infertility due to globozoospermia": "ORPHA:171709", "Male infertility due to round-headed spermatozoa": "ORPHA:171709", "Round-headed sperm syndrome": "ORPHA:171709", "Amish infantile epilepsy syndrome": "ORPHA:171714", "Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome": "ORPHA:171714", "Cutis laxa-Marfanoid syndrome": "ORPHA:171719", "Aspergillosis": "ORPHA:1163", "White sponge nevus": "ORPHA:171723", "Hereditary mucosal leukokeratosis": "ORPHA:171723", "White sponge nevus of Cannon": "ORPHA:171723", "Hereditary xanthinuria": "ORPHA:3467", "Classic xanthinuria": "ORPHA:3467", "Xanthic urolithiasis": "ORPHA:3467", "Xanthine stone disease": "ORPHA:3467", "Limbal stem cell deficiency": "ORPHA:171673", "NON RARE IN EUROPE: Periventricular leukomalacia": "ORPHA:171676", "Maple syrup urine disease": "ORPHA:511", "BCKD deficiency": "ORPHA:511", "BCKDH deficiency": "ORPHA:511", "Branched-chain 2-ketoacid dehydrogenase deficiency": "ORPHA:511", "Branched-chain ketoaciduria": "ORPHA:511", "MSUD": "ORPHA:511", "Lissencephaly due to TUBA1A mutation": "ORPHA:171680", "Glutathione synthetase deficiency": "ORPHA:32", "Pyroglutamicaciduria": "ORPHA:32", "Idiopathic bilateral vestibulopathy": "ORPHA:171684", "Metabolic myopathy due to lactate transporter defect": "ORPHA:171690", "Erythrocyte lactate transporter defect": "ORPHA:171690", "Methylmalonic acidemia with homocystinuria": "ORPHA:26", "Combined defect in adenosylcobalamin and methylcobalamin synthesis": "ORPHA:26", "Methylmalonic aciduria with homocystinuria": "ORPHA:26", "Autosomal dominant spastic paraplegia type 42": "ORPHA:171863", "SPG42": "ORPHA:171863", "OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome": "ORPHA:171860", "Renal pseudohypoaldosteronism type 1": "ORPHA:171871", "Autosomal dominant PHA1": "ORPHA:171871", "Autosomal dominant pseudohypoaldosteronism type 1": "ORPHA:171871", "Renal PHA1": "ORPHA:171871", "Exstrophy-epispadias complex": "ORPHA:322", "BEEC": "ORPHA:322", "Bladder exstrophy-epispadias-cloacal extrophy complex": "ORPHA:322", "EEC": "ORPHA:322", "Spondyloepimetaphyseal dysplasia, aggrecan type": "ORPHA:171866", "SEMD, aggrecan type": "ORPHA:171866", "Gastroschisis": "ORPHA:2368", "Laparoschisis": "ORPHA:2368", "Cap myopathy": "ORPHA:171881", "Cap disease": "ORPHA:171881", "Autosomal recessive primary microcephaly": "ORPHA:2512", "MCPH": "ORPHA:2512", "Microcephalia vera": "ORPHA:2512", "Microcephaly vera": "ORPHA:2512", "True microcephaly": "ORPHA:2512", "Non-syndromic polydactyly": "ORPHA:2913", "Generalized pseudohypoaldosteronism type 1": "ORPHA:171876", "Autosomal recessive PHA1": "ORPHA:171876", "Autosomal recessive pseudohypoaldosteronism type 1": "ORPHA:171876", "Generalized PHA1": "ORPHA:171876", "Rare form of salmonellosis": "ORPHA:795", "Myopathy with hexagonally cross-linked tubular arrays": "ORPHA:171889", "Sarcoidosis": "ORPHA:797", "Besnier-Boeck-Schaumann disease": "ORPHA:797", "Boeck sarcoid": "ORPHA:797", "Cylindrical spirals myopathy": "ORPHA:171886", "Amelogenesis imperfecta-gingival hyperplasia syndrome": "ORPHA:171836", "Juvenile idiopathic arthritis": "ORPHA:92", "Juvenile chronic arthritis": "ORPHA:92", "Juvenile rheumatoid arthritis": "ORPHA:92", "6q16 microdeletion syndrome": "ORPHA:171829", "Del(6)(q16)": "ORPHA:171829", "Monosomy 6q16": "ORPHA:171829", "Prader-Willi-like syndrome due to microdeletion 6q16": "ORPHA:171829", "Small bowel atresia": "ORPHA:1201", "Atresia of small bowel": "ORPHA:1201", "Atresia of small intestine": "ORPHA:1201", "Jejunal atresia": "ORPHA:1201", "Jejunoileal atresia": "ORPHA:1201", "SBA": "ORPHA:1201", "Small intestinal atresia": "ORPHA:1201", "Blindness-scoliosis-arachnodactyly syndrome": "ORPHA:171844", "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome": "ORPHA:171839", "Berant syndrome": "ORPHA:171839", "Capra-DeMarco syndrome": "ORPHA:171839", "Familial scaphocephaly-radioulnar synostosis syndrome": "ORPHA:171839", "Larynx atresia": "ORPHA:1202", "Esophageal atresia": "ORPHA:1199", "CEA": "ORPHA:1199", "Congenital esophageal atresia": "ORPHA:1199", "EA/TEF": "ORPHA:1199", "Esophageal atresia with or without trachea-esophageal fistula": "ORPHA:1199", "Oesophageal atresia": "ORPHA:1199", "MEDNIK syndrome": "ORPHA:171851", "Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome": "ORPHA:171851", "Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome": "ORPHA:171851", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome": "ORPHA:171848", "PHARC syndrome": "ORPHA:171848", "Peripheral neuropathy, Fiskerstrand type": "ORPHA:171848", "Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome": "ORPHA:171848", "Brucellosis": "ORPHA:1304", "Cholera": "ORPHA:173", "OBSOLETE: Familial chondromalacia patellae": "ORPHA:1428", "Paroxysmal dystonia": "ORPHA:200037", "Tetralogy of Fallot": "ORPHA:3303", "Immunodeficiency with factor I anomaly": "ORPHA:200418", "Complete factor I deficiency": "ORPHA:200418", "Autosomal dominant polycystic kidney disease": "ORPHA:730", "ADPKD": "ORPHA:730", "Immunodeficiency with factor H anomaly": "ORPHA:200421", "Autosomal dominant severe congenital neutropenia": "ORPHA:486", "Tricuspid atresia": "ORPHA:1209", "Isolated encephalocele": "ORPHA:199647", "Autosomal recessive spastic ataxia of Charlevoix-Saguenay": "ORPHA:98", "ARSACS": "ORPHA:98", "Autosomal recessive spastic ataxia type 6": "ORPHA:98", "SPAX6": "ORPHA:98", "NON RARE IN EUROPE: Ventricular septal defect": "ORPHA:1480", "NON RARE IN EUROPE: Interventricular communication": "ORPHA:1480", "NON RARE IN EUROPE: VSD": "ORPHA:1480", "Interatrial communication": "ORPHA:1478", "ASD": "ORPHA:1478", "Atrial septal defect": "ORPHA:1478", "Interauricular communication": "ORPHA:1478", "Congenital factor XII deficiency": "ORPHA:330", "Congenital Hageman factor deficiency": "ORPHA:330", "Gonococcal conjunctivitis": "ORPHA:1482", "Evans syndrome": "ORPHA:1959", "Autoimmune hemolytic anemia and autoimmune thrombocytopenia": "ORPHA:1959", "Immune pancytopenia": "ORPHA:1959", "Alveolar echinococcosis": "ORPHA:284", "Echinococcus multilocularis infection": "ORPHA:284", "Early-onset cerebellar ataxia with retained tendon reflexes": "ORPHA:1177", "EOCA": "ORPHA:1177", "EOCARR": "ORPHA:1177", "Harding ataxia": "ORPHA:1177", "Stickler syndrome": "ORPHA:828", "Hereditary progressive arthroophthalmopathy": "ORPHA:828", "Paroxysmal dyskinesia": "ORPHA:1431", "Paroxysmal choreoathetosis": "ORPHA:1431", "Paroxysmal dystonic choreoathetosis": "ORPHA:1431", "Congenital herpes simplex virus infection": "ORPHA:293", "Antenatal herpes simplex virus infection": "ORPHA:293", "Mother-to-child transmission of herpes simplex virus infection": "ORPHA:293", "Muscular dystrophy, Selcen type": "ORPHA:199340", "Pancreatic insufficiency-anemia-hyperostosis syndrome": "ORPHA:199337", "Dubin-Johnson syndrome": "ORPHA:234", "Dubin-Sprinz disease": "ORPHA:234", "Hyperbilirubinemia type 2": "ORPHA:234", "Sprinz-Nelson syndrome": "ORPHA:234", "Thiamine-responsive encephalopathy": "ORPHA:199348", "Takayasu arteritis": "ORPHA:3287", "EAST syndrome": "ORPHA:199343", "Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome": "ORPHA:199343", "Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome": "ORPHA:199343", "SeSAME syndrome": "ORPHA:199343", "Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome": "ORPHA:199343", "Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome": "ORPHA:199343", "Extramammary Paget disease": "ORPHA:2800", "Isolated autosomal dominant hypomagnesemia, Glaudemans type": "ORPHA:199326", "Endophthalmitis": "ORPHA:199323", "Congenital lobar emphysema": "ORPHA:1928", "Congenital lobar hyperinflation": "ORPHA:1928", "Infantile lobar hyperinflation": "ORPHA:1928", "Endocrine-cerebro-osteodysplasia syndrome": "ORPHA:199332", "ECO syndrome": "ORPHA:199332", "Congenital myopathy, Paradas type": "ORPHA:199329", "Congenital mesoblastic nephroma": "ORPHA:2665", "Wolfram syndrome": "ORPHA:3463", "Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome": "ORPHA:3463", "Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome": "ORPHA:3463", "DIDMOAD syndrome": "ORPHA:3463", "Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome": "ORPHA:3463", "Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome": "ORPHA:3463", "NON RARE IN EUROPE: Cryptosporidiosis": "ORPHA:1549", "Non-syndromic cerebral malformation": "ORPHA:199633", "Non-syndromic brain malformation": "ORPHA:199633", "Isolated congenital microcephaly": "ORPHA:199642", "Syndrome with corpus callosum agenesis/dysgenesis as a major feature": "ORPHA:199639", "Legionnaires disease": "ORPHA:549", "Pemphigus vulgaris": "ORPHA:704", "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy": "ORPHA:199354", "CARASIL": "ORPHA:199354", "Maeda syndrome": "ORPHA:199354", "Adult-onset dystonia-parkinsonism": "ORPHA:199351", "Dystonia-parkinsonism, Paisan-Ruiz type": "ORPHA:199351", "PARK14": "ORPHA:199351", "PLA2G6-related dystonia-parkinsonism": "ORPHA:199351", "Gerstmann-Straussler-Scheinker syndrome": "ORPHA:356", "Subacute spongiform encephalopathy, Gerstmann-Straussler type": "ORPHA:356", "Fatal familial insomnia": "ORPHA:466", "FFI": "ORPHA:466", "Isolated cerebellar vermis hypoplasia": "ORPHA:199630", "Atypical autism": "ORPHA:199627", "OBSOLETE: Binswanger disease": "ORPHA:1249", "NON RARE IN EUROPE: Chronic fatigue syndrome": "ORPHA:1983", "NON RARE IN EUROPE: Chronic fatigue immune dysfunction syndrome": "ORPHA:1983", "NON RARE IN EUROPE: Myalgic encephalomyelitis": "ORPHA:1983", "Congenital microgastria": "ORPHA:199293", "Whipple disease": "ORPHA:3452", "Intestinal lipodystrophy": "ORPHA:3452", "Harlequin syndrome": "ORPHA:199282", "Progressive isolated segmental anhidrosis": "ORPHA:199282", "Hereditary hypercarotenemia and vitamin A deficiency": "ORPHA:199285", "Kawasaki disease": "ORPHA:2331", "Mucocutaneous lymph node syndrome": "ORPHA:2331", "Familial multiple lipomatosis": "ORPHA:199276", "GTP cyclohydrolase I deficiency": "ORPHA:2102", "GTPCH deficiency": "ORPHA:2102", "Hyperphenylalaninemia due to GTP cyclohydrolase deficiency": "ORPHA:2102", "Familial angiolipomatosis": "ORPHA:199279", "Calcifying aponeurotic fibroma": "ORPHA:199260", "Juvenile aponeurotic fibromatosis": "ORPHA:199260", "Keasby tumor": "ORPHA:199260", "Immune thrombocytopenia": "ORPHA:3002", "ITP": "ORPHA:3002", "Immune thrombocytopenic purpura": "ORPHA:3002", "Infantile digital fibromatosis": "ORPHA:199267", "Inclusion body fibromatosis": "ORPHA:199267", "Recurring digital fibrous tumor of childhood": "ORPHA:199267", "Reye tumor": "ORPHA:199267", "Familial clubfoot with or without associated lower limb anomalies": "ORPHA:199315", "Congenital respiratory-biliary fistula": "ORPHA:2040", "15q13.3 microdeletion syndrome": "ORPHA:199318", "Del(15)(q13.3)": "ORPHA:199318", "Monosomy 15q13.3": "ORPHA:199318", "Tetragametic chimerism syndrome": "ORPHA:199310", "46,XX/46,XY chimerism": "ORPHA:199310", "Bronchogenic cyst": "ORPHA:2357", "Bernard-Soulier syndrome": "ORPHA:274", "Giant platelet syndrome": "ORPHA:274", "Hemorrhagiparous thrombocytic dystrophy": "ORPHA:274", "Congenital atransferrinemia": "ORPHA:1195", "Congenital hypotransferrinemia": "ORPHA:1195", "Isolated cleft lip": "ORPHA:199302", "Cleft lip/palate": "ORPHA:199306", "Alveolar cleft lip and palate": "ORPHA:199306", "Cleft lip and palate": "ORPHA:199306", "Cleft lip-alveolus-palate syndrome": "ORPHA:199306", "FLP": "ORPHA:199306", "Acatalasemia": "ORPHA:926", "Catalase deficiency": "ORPHA:926", "Ramsay Hunt syndrome": "ORPHA:3020", "Facial nerve palsy due to VZV": "ORPHA:3020", "Facial nerve palsy due to herpes zoster infection": "ORPHA:3020", "Facial nerve paralysis due to VZV": "ORPHA:3020", "Congenital isolated ACTH deficiency": "ORPHA:199296", "Craniosynostosis": "ORPHA:1531", "Late-onset isolated ACTH deficiency": "ORPHA:199299", "Dihydropyrimidine dehydrogenase deficiency": "ORPHA:1675", "Familial pyrimidinemia": "ORPHA:1675", "Cushing syndrome due to bilateral macronodular adrenocortical disease": "ORPHA:189427", "CS due to BMACD": "ORPHA:189427", "CS due to BMAD": "ORPHA:189427", "Cushing syndrome due to BMACD": "ORPHA:189427", "Cushing syndrome due to BMAD": "ORPHA:189427", "Cushing syndrome due to macronodular adrenal hyperplasia": "ORPHA:189427", "Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia": "ORPHA:189427", "Adenine phosphoribosyltransferase deficiency": "ORPHA:976", "2,8-dihydroxyadenine urolithiasis": "ORPHA:976", "APRT deficiency": "ORPHA:976", "OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia": "ORPHA:189424", "Sarcosinemia": "ORPHA:3129", "Sarcosine dehydrogenase complex deficiency": "ORPHA:3129", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome": "ORPHA:415", "HHH syndrome": "ORPHA:415", "ORNT1 deficiency": "ORPHA:415", "Ornithine carrier deficiency": "ORPHA:415", "Ornithine translocase deficiency": "ORPHA:415", "Triple H syndrome": "ORPHA:415", "6-pyruvoyl-tetrahydropterin synthase deficiency": "ORPHA:13", "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency": "ORPHA:13", "Superficial fibromatosis": "ORPHA:199257", "M\u00e9n\u00e9trier disease": "ORPHA:2494", "Giant hypertrophic gastritis": "ORPHA:2494", "Hypoproteinemic hypertrophic gastropathy": "ORPHA:2494", "Primary sclerosing cholangitis": "ORPHA:171", "PSC": "ORPHA:171", "Ledderhose disease": "ORPHA:199251", "Plantar fibromatosis": "ORPHA:199251", "Congenital primary lymphedema without systemic or visceral involvement": "ORPHA:2416", "Corticosteroid-binding globulin deficiency": "ORPHA:199247", "Transcortin deficiency": "ORPHA:199247", "Nelson syndrome": "ORPHA:199244", "Pulmonary capillary hemangiomatosis": "ORPHA:199241", "Atypical hemolytic uremic syndrome": "ORPHA:2134", "Atypical HUS": "ORPHA:2134", "aHUS": "ORPHA:2134", "Familial isolated hypoparathyroidism due to impaired PTH secretion": "ORPHA:189466", "Fatal infantile lactic acidosis with methylmalonic aciduria": "ORPHA:17", "OBSOLETE: Primary pigmented nodular adrenocortical disease": "ORPHA:189439", "OBSOLETE: PPNAD": "ORPHA:189439", "OBSOLETE: Primary pigmented nodular adrenal dysplasia": "ORPHA:189439", "Pyridoxine-dependent epilepsy": "ORPHA:3006", "Antiquitin deficiency": "ORPHA:3006", "Vitamin B6-dependent seizures": "ORPHA:3006", "Rhabdomyosarcoma": "ORPHA:780", "Rotor syndrome": "ORPHA:3111", "Hyperbilirubinemia, Rotor type": "ORPHA:3111", "Lennox-Gastaut syndrome": "ORPHA:2382", "Subacute sclerosing leukoencephalitis": "ORPHA:2806", "Dawson encephalitis": "ORPHA:2806", "SSPE": "ORPHA:2806", "Subacute inclusion body encephalitis": "ORPHA:2806", "Subacute sclerosing panencephalitis": "ORPHA:2806", "Van Bogaert disease": "ORPHA:2806", "Van Bogaert encephalitis": "ORPHA:2806", "Systemic mastocytosis": "ORPHA:2467", "NON RARE IN EUROPE: Pernicious anemia": "ORPHA:120", "NON RARE IN EUROPE: Acquired pernicious anemia": "ORPHA:120", "NON RARE IN EUROPE: Addison-Biermer anemia": "ORPHA:120", "NON RARE IN EUROPE: Addisonian anemia": "ORPHA:120", "NON RARE IN EUROPE: Biermer anemia": "ORPHA:120", "NON RARE IN EUROPE: Biermer disease": "ORPHA:120", "NON RARE IN EUROPE: Juvenile onset pernicious anemia": "ORPHA:120", "Early infantile epileptic encephalopathy": "ORPHA:1934", "EIEE": "ORPHA:1934", "Early infantile epileptic encephalopathy with suppression-bursts": "ORPHA:1934", "Ohtahara syndrome": "ORPHA:1934", "Tay-Sachs disease": "ORPHA:845", "Beta-hexosaminidase subunit alpha deficiency": "ORPHA:845", "GM2 gangliosidosis, Tay-Sachs variant": "ORPHA:845", "GM2 gangliosidosis, hexosaminidase A deficiency variant": "ORPHA:845", "HEXA disorder": "ORPHA:845", "Myoclonic-astatic epilepsy": "ORPHA:1942", "Doose syndrome": "ORPHA:1942", "EMAS": "ORPHA:1942", "Epilepsy with myoclonic-astatic seizures": "ORPHA:1942", "Epilepsy with myoclonic-atonic seizures": "ORPHA:1942", "MAE": "ORPHA:1942", "Myoclonic atonic epilepsy": "ORPHA:1942", "Myoclonic-astatic epilepsy in early childhood": "ORPHA:1942", "Early myoclonic encephalopathy": "ORPHA:1935", "Early myoclonic encephalopathy with suppression-bursts": "ORPHA:1935", "Early-onset progressive encephalopathy with migrant continuous myoclonus": "ORPHA:1943", "Infantile epileptic spasms syndrome": "ORPHA:3451", "IESS": "ORPHA:3451", "West syndrome": "ORPHA:3451", "Tetanus": "ORPHA:3299", "Asbestos intoxication": "ORPHA:2302", "Asbestosis": "ORPHA:2302", "Rabies": "ORPHA:770", "American trypanosomiasis": "ORPHA:3386", "Chagas disease": "ORPHA:3386", "Calpain-3-related limb-girdle muscular dystrophy R1": "ORPHA:267", "Autosomal recessive limb-girdle muscular dystrophy type 2A": "ORPHA:267", "Calpain-3-related LGMD R1": "ORPHA:267", "LGMD type 2A": "ORPHA:267", "LGMD2A": "ORPHA:267", "Limb-girdle muscular dystrophy due to calpain deficiency": "ORPHA:267", "Limb-girdle muscular dystrophy type 2A": "ORPHA:267", "Primary calpainopathy": "ORPHA:267", "Complete atrioventricular septal defect": "ORPHA:1329", "CAVC": "ORPHA:1329", "Complete AVSD": "ORPHA:1329", "Complete atrioventricular canal": "ORPHA:1329", "Complete atrioventricular canal defect": "ORPHA:1329", "Complete atrioventricular septal defect with atrial and ventricular components": "ORPHA:1329", "Mucopolysaccharidosis type 4": "ORPHA:582", "MPS4": "ORPHA:582", "MPSIV": "ORPHA:582", "Morquio disease": "ORPHA:582", "Mucopolysaccharidosis type IV": "ORPHA:582", "Autoimmune hepatitis": "ORPHA:2137", "AIH": "ORPHA:2137", "Primary biliary cholangitis": "ORPHA:186", "Hanot syndrome": "ORPHA:186", "PBC": "ORPHA:186", "Primary biliary cirrhosis": "ORPHA:186", "OBSOLETE: Arnold-Chiari malformation type II": "ORPHA:1136", "OBSOLETE: Arnold-Chiari malformation type 2": "ORPHA:1136", "OBSOLETE: Chiari malformation type 2": "ORPHA:1136", "OBSOLETE: Chiari malformation type II": "ORPHA:1136", "Giant cell arteritis": "ORPHA:397", "Horton disease": "ORPHA:397", "Temporal arteritis": "ORPHA:397", "Chronic inflammatory demyelinating polyneuropathy": "ORPHA:2932", "CIDP": "ORPHA:2932", "Chronic inflammatory demyelinating polyradiculoneuropathy": "ORPHA:2932", "Multiple symmetric lipomatosis": "ORPHA:2398", "Cephalothoracic lipodystrophy": "ORPHA:2398", "Familial benign cervical lipomatosis": "ORPHA:2398", "Launois-Bensaude lipomatosis": "ORPHA:2398", "Madelung disease": "ORPHA:2398", "Dermatitis herpetiformis": "ORPHA:1656", "Duhring-Brocq disease": "ORPHA:1656", "Rare genetic syndromic intellectual disability": "ORPHA:183763", "NON RARE IN EUROPE: Hashimoto thyroiditis": "ORPHA:855", "NON RARE IN EUROPE: Hashimoto hypothyroidism": "ORPHA:855", "NON RARE IN EUROPE: Hashimoto struma": "ORPHA:855", "Rare genetic immune disease": "ORPHA:183770", "May-Hegglin thrombocytopenia": "ORPHA:850", "MHA": "ORPHA:850", "May-Hegglin anomaly": "ORPHA:850", "May-Hegglin syndrome": "ORPHA:850", "Stiff person spectrum disorder": "ORPHA:3198", "Moersch-Woltman syndrome": "ORPHA:3198", "SMS": "ORPHA:3198", "SPS": "ORPHA:1509", "Stiff man spectrum disorder": "ORPHA:3198", "Rare genetic intellectual disability": "ORPHA:183757", "Juvenile polyposis syndrome": "ORPHA:2929", "JIP": "ORPHA:2929", "JPS": "ORPHA:2929", "Juvenile gastrointestinal polyposis": "ORPHA:2929", "Juvenile intestinal polyposis": "ORPHA:2929", "Budd-Chiari syndrome": "ORPHA:131", "BCS": "ORPHA:131", "Niemann-Pick disease type C": "ORPHA:646", "Nephroblastoma": "ORPHA:654", "Renal embryonic tumor": "ORPHA:654", "Wilms tumor": "ORPHA:654", "Whooping cough": "ORPHA:1489", "Pertussis": "ORPHA:1489", "Osteochondritis dissecans": "ORPHA:2764", "K\u00f6nig disease": "ORPHA:2764", "Myeloperoxidase deficiency": "ORPHA:2587", "MPO deficiency": "ORPHA:2587", "Tuberculosis": "ORPHA:3389", "Diphtheria": "ORPHA:1679", "Botulism": "ORPHA:1267", "Pityriasis rubra pilaris": "ORPHA:2897", "OBSOLETE: Common variable immunodeficiency due to TNFR deficiency": "ORPHA:183672", "OBSOLETE: CVID due to TNFR deficiency": "ORPHA:183672", "Guillain-Barr\u00e9 syndrome": "ORPHA:2103", "GBS": "ORPHA:2103", "Guillain-Barr\u00e9-Strohl syndrome": "ORPHA:2103", "Agammaglobulinemia": "ORPHA:183669", "Hyper-IgM syndrome without susceptibility to opportunistic infections": "ORPHA:183666", "HIGM without susceptibility to opportunistic infections": "ORPHA:183666", "Eosinophilic gastroenteritis": "ORPHA:2070", "EGE": "ORPHA:2070", "Eosinophilic enteritis": "ORPHA:2070", "Eosinophilic gastroenterocolitis": "ORPHA:2070", "Hyper-IgM syndrome with susceptibility to opportunistic infections": "ORPHA:183663", "HIGM with susceptibility to opportunistic infections": "ORPHA:183663", "Transient familial neonatal hyperbilirubinemia": "ORPHA:2312", "Lucey-Driscoll syndrome": "ORPHA:2312", "Infantile LAD-like disease due to RAC2 deficiency": "ORPHA:183707", "Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency": "ORPHA:183707", "Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency": "ORPHA:2314", "AD-HIES due to STAT3 deficiency": "ORPHA:2314", "Autosomal dominant HIES due to STAT3 deficiency": "ORPHA:2314", "Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency": "ORPHA:2314", "Buckley syndrome": "ORPHA:2314", "Job syndrome": "ORPHA:2314", "Congenital functional phagocyte defect": "ORPHA:183681", "Congenital functional defect of phagocyte": "ORPHA:183681", "Constitutional functional phagocyte defect": "ORPHA:183681", "Hermansky-Pudlak syndrome due to AP-3 deficiency": "ORPHA:183678", "Hermansky-Pudlak syndrome due to Adaptator-related protein complex 3 deficiency": "ORPHA:183678", "Hermansky-Pudlak syndrome with neutropenia": "ORPHA:183678", "Syndrome de Hermansky-Pudlak par d\u00e9ficit en adaptator-related protein complex 3": "ORPHA:183678", "Hepatoblastoma": "ORPHA:449", "Recurrent infections associated with rare immunoglobulin isotypes deficiency": "ORPHA:183675", "IgG subclass deficiency with IgA subclass deficiency": "ORPHA:183675", "Isolated IgG subclass deficiency": "ORPHA:183675", "Kappa-chain deficiency": "ORPHA:183675", "Selective IgG subclass deficiency": "ORPHA:183675", "Hydranencephaly": "ORPHA:2177", "Rare genetic gynecological and obstetrical diseases": "ORPHA:183731", "Listeriosis": "ORPHA:533", "Listeria infection": "ORPHA:533", "OBSOLETE: Other complex syndrome of primary immunodeficiency": "ORPHA:183716", "OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency": "ORPHA:183713", "Laryngocele": "ORPHA:2372", "Genetic susceptibility to infections due to particular pathogens": "ORPHA:183710", "Legg-Calv\u00e9-Perthes disease": "ORPHA:2380", "Aseptic necrosis of the capital femoral epiphysis": "ORPHA:2380", "Osteochondrosis of the capital femoral epiphysis": "ORPHA:2380", "Perthes disease": "ORPHA:2380", "Progressive supranuclear palsy": "ORPHA:683", "PSP syndrome": "ORPHA:683", "Pancreatoblastoma": "ORPHA:677", "NON RARE IN EUROPE: Idiopathic facial palsy": "ORPHA:2810", "NON RARE IN EUROPE: Bell palsy": "ORPHA:2810", "Genetic gynecological tumor": "ORPHA:183734", "Rare constitutional anemia": "ORPHA:183651", "Severe combined immunodeficiency": "ORPHA:183660", "SCID": "ORPHA:183660", "Waardenburg-Shah syndrome": "ORPHA:897", "Shah-Waardenburg syndrome": "ORPHA:897", "WS4": "ORPHA:897", "Waardenburg syndrome type 4": "ORPHA:897", "Waardenburg-Hirschsprung syndrome": "ORPHA:897", "Rare genetic coagulation disorder": "ORPHA:183654", "Rare genetic adrenal disease": "ORPHA:183637", "Seckel syndrome": "ORPHA:808", "Genetic polyendocrinopathy": "ORPHA:183643", "Rare genetic hypothalamic or pituitary disease": "ORPHA:183628", "Rare genetic diabetes mellitus": "ORPHA:183625", "Rare genetic parathyroid disease and phosphocalcic metabolism disorder": "ORPHA:183634", "Lown-Ganong-Levine syndrome": "ORPHA:844", "Atrial tachyarrhythmia with short PR interval": "ORPHA:844", "LGL syndrome": "ORPHA:844", "Rare genetic thyroid disease": "ORPHA:183631", "Genetic neuro-ophthalmological disease": "ORPHA:183616", "Caudal regression syndrome": "ORPHA:3027", "Caudal dysgenesis syndrome": "ORPHA:3027", "Caudal dysplasia": "ORPHA:3027", "Caudal regression sequence": "ORPHA:3027", "Genetic respiratory malformation": "ORPHA:183622", "Genetic eye tumor": "ORPHA:183619", "OBSOLETE: Rare genetic refraction anomaly": "ORPHA:183601", "OBSOLETE: Rare genetic glaucoma": "ORPHA:183604", "Genetic lens and zonula anomaly": "ORPHA:183607", "Hereditary chronic pancreatitis": "ORPHA:676", "Genetic thrombotic microangiopathy": "ORPHA:183589", "Genetic renal tubular disease": "ORPHA:183592", "Giant axonal neuropathy": "ORPHA:643", "GAN": "ORPHA:643", "Genetic renal tumor": "ORPHA:183595", "OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease": "ORPHA:183598", "Netherton syndrome": "ORPHA:634", "Bamboo hair syndrome": "ORPHA:634", "Com\u00e8l-Netherton syndrome": "ORPHA:634", "NS": "ORPHA:634", "Campomelic dysplasia": "ORPHA:140", "Campomelic dwarfism": "ORPHA:140", "Genetic branchial arch or oral-acral syndrome": "ORPHA:183576", "Young-onset Parkinson disease": "ORPHA:2828", "Early-onset Parkinson disease": "ORPHA:2828", "YOPD": "ORPHA:2828", "Genetic malformation syndrome with odontal and/or periodontal component": "ORPHA:183580", "Hereditary sensory and autonomic neuropathy type 4": "ORPHA:642", "CIPA": "ORPHA:642", "Congenital insensitivity to pain with anhidrosis": "ORPHA:642", "HSAN4": "ORPHA:642", "Hereditary sensory and autonomic neuropathy type IV": "ORPHA:642", "Genetic head and neck malformation": "ORPHA:183583", "Genetic glomerular disease": "ORPHA:183586", "Genetic developmental defect of the eye": "ORPHA:183557", "Nance-Horan syndrome": "ORPHA:627", "Genetic malformation syndrome with short stature": "ORPHA:183570", "Neurofibromatosis-Noonan syndrome": "ORPHA:638", "NFNS": "ORPHA:638", "Neurofibromatosis type 1-Noonan syndrome": "ORPHA:638", "Genetic overgrowth/obesity syndrome": "ORPHA:183573", "Congenital factor V deficiency": "ORPHA:326", "Owren disease": "ORPHA:326", "Parahemophilia": "ORPHA:326", "Proaccelerin deficiency": "ORPHA:326", "Genetic respiratory or mediastinal malformation": "ORPHA:183554", "Liddle syndrome": "ORPHA:526", "Pseudoaldosteronism": "ORPHA:526", "Genetic visceral malformation of the liver, biliary tract, pancreas or spleen": "ORPHA:183548", "LCAT deficiency": "ORPHA:650", "Lecithin-cholesterol acyltransferase deficiency": "ORPHA:650", "Familial hypoaldosteronism": "ORPHA:427", "Genetic digestive tract malformation": "ORPHA:183545", "Genetic cranial malformation": "ORPHA:183542", "Congenital stationary night blindness": "ORPHA:215", "Congenital essential nyctalopia": "ORPHA:215", "Genetic renal or urinary tract malformation": "ORPHA:183539", "Familial Mediterranean fever": "ORPHA:342", "Benign paroxysmal peritonitis": "ORPHA:342", "Benign recurrent polyserositis": "ORPHA:342", "FMF": "ORPHA:342", "Familial paroxysmal polyserositis": "ORPHA:342", "Periodic disease": "ORPHA:342", "Genetic congenital limb malformation": "ORPHA:183536", "Choroideremia": "ORPHA:180", "CHM": "ORPHA:180", "Tapetochoroidal dystrophy": "ORPHA:180", "Genetic multiple congenital anomalies/dysmorphic syndrome": "ORPHA:183533", "Rare genetic developmental defect during embryogenesis": "ORPHA:183530", "Androgen insensitivity syndrome": "ORPHA:754", "AIS": "ORPHA:754", "Androgen resistance syndrome": "ORPHA:754", "Goldberg-Maxwell syndrome": "ORPHA:754", "Morris syndrome": "ORPHA:754", "Testicular feminization syndrome": "ORPHA:754", "Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia": "ORPHA:253", "SED and SEMD": "ORPHA:253", "Genetic bone tumor": "ORPHA:183527", "Rare genetic bone disease": "ORPHA:183524", "Congenital factor VII deficiency": "ORPHA:327", "Congenital proconvertin deficiency": "ORPHA:327", "Hypoproconvertinemia": "ORPHA:327", "Rare genetic movement disorder": "ORPHA:183521", "Hereditary ataxia": "ORPHA:183518", "Rare genetic medullar disease": "ORPHA:183515", "Simpson-Golabi-Behmel syndrome": "ORPHA:373", "DGSX": "ORPHA:373", "Golabi-Rosen syndrome": "ORPHA:373", "SDYS": "ORPHA:373", "SGBS": "ORPHA:373", "SGBS1": "ORPHA:373", "Simpson dysmorphia syndrome": "ORPHA:373", "Simpson-Golabi-Behmel syndrome type 1": "ORPHA:373", "X-linked dysplasia gigantism syndrome": "ORPHA:373", "Rare genetic epilepsy": "ORPHA:183512", "Rare genetic headache": "ORPHA:183509", "Familial hyperaldosteronism type I": "ORPHA:403", "Dexamethasone-sensitive hypertension": "ORPHA:403", "FH-I": "ORPHA:403", "FH1": "ORPHA:403", "Familial hyperaldosteronism type 1": "ORPHA:403", "GRA": "ORPHA:403", "Glucocorticoid-remediable aldosteronism": "ORPHA:403", "Glucocorticoid-sensitive hypertension": "ORPHA:403", "Genetic central nervous system and retinal vascular disease": "ORPHA:183503", "Genetic central nervous system malformation": "ORPHA:183506", "21q deletion syndrome": "ORPHA:574", "21q- syndrome": "ORPHA:574", "Partial 21q monosomy": "ORPHA:574", "Genetic neuromuscular disease": "ORPHA:183497", "Genetic neurodegenerative disease": "ORPHA:183500", "OBSOLETE: Familial renal cell carcinoma": "ORPHA:151", "Genetic photodermatosis": "ORPHA:183490", "Genetic skin photosensitivity": "ORPHA:183490", "Photogenodermatosis": "ORPHA:183490", "Photog\u00e9nodermatose": "ORPHA:183490", "Genetic immune deficiency with skin involvement": "ORPHA:183494", "Multiple endocrine neoplasia type 2": "ORPHA:653", "MEN2": "ORPHA:653", "Differentiated thyroid carcinoma": "ORPHA:146", "Papillary or follicular thyroid carcinoma": "ORPHA:146", "Well-differentiated thyroid carcinoma": "ORPHA:146", "Genetic subcutaneous tissue disorder": "ORPHA:183484", "Genetic skin tumor or hamartoma": "ORPHA:183487", "Familial prostate cancer": "ORPHA:1331", "Genetic skin vascular disorder": "ORPHA:183478", "Genetic mixed dermis disorder": "ORPHA:183481", "Carnitine palmitoyltransferase II deficiency": "ORPHA:157", "CPT2": "ORPHA:157", "CPTII": "ORPHA:157", "Carnitine palmitoyltransferase deficiency type 2": "ORPHA:157", "Genetic dermis disorder": "ORPHA:183472", "X-linked alpha-thalassemia-intellectual disability syndrome": "ORPHA:847", "ATR-X syndrome": "ORPHA:847", "Genetic hyperpigmentation of the skin": "ORPHA:183466", "Genetic hypopigmentation of the skin": "ORPHA:183469", "Genetic sebaceous gland anomaly": "ORPHA:183460", "Ring chromosome 22 syndrome": "ORPHA:1446", "Ring 22": "ORPHA:1446", "Ring chromosome 22": "ORPHA:1446", "r(22) syndrome": "ORPHA:1446", "Genetic pigmentation anomaly of the skin": "ORPHA:183463", "Genetic erythrokeratoderma": "ORPHA:183438", "Inherited ichthyosis": "ORPHA:183435", "Genetic ichthyosis": "ORPHA:183435", "ICF syndrome": "ORPHA:2268", "Immunodeficiency-centromeric instability-facial anomalies syndrome": "ORPHA:2268", "Immunodeficiency-centromeric instability-facial dysmorphism syndrome": "ORPHA:2268", "Genetic porokeratosis": "ORPHA:183444", "Genetic acrokeratoderma": "ORPHA:183441", "Genetic hair anomaly": "ORPHA:183450", "Genetic epidermal appendage anomaly": "ORPHA:183447", "Joubert syndrome": "ORPHA:475", "CPD IV": "ORPHA:475", "Cerebelloparenchymal disorder IV": "ORPHA:475", "Classic Joubert syndrome": "ORPHA:475", "Joubert syndrome type A": "ORPHA:475", "Joubert-Boltshauser syndrome": "ORPHA:475", "Pure Joubert syndrome": "ORPHA:475", "Holt-Oram syndrome": "ORPHA:392", "Atriodigital dysplasia type 1": "ORPHA:392", "HOS": "ORPHA:392", "Heart-hand syndrome type 1": "ORPHA:392", "Genetic nail anomaly": "ORPHA:183454", "Systemic autoimmune disease": "ORPHA:182228", "Rare systemic disease": "ORPHA:182222", "Bazex-Dupr\u00e9-Christol syndrome": "ORPHA:113", "BDCS": "ORPHA:113", "Follicular atrophoderma and basal cell carcinomas": "ORPHA:113", "Familial abdominal aortic aneurysm": "ORPHA:86", "Rare rheumatologic disease": "ORPHA:182231", "46,XX gonadal dysgenesis": "ORPHA:243", "46,XX complete gonadal dysgenesis": "ORPHA:243", "46,XX ovarian dysgenesis": "ORPHA:243", "46,XX pure gonadal dysgenesis": "ORPHA:243", "Hypergonadotropic ovarian dysgenesis": "ORPHA:243", "XX female gonadal dysgenesis": "ORPHA:243", "XX-GD": "ORPHA:243", "Genetic urticaria": "ORPHA:182734", "Genetic epidermal disorder": "ORPHA:183426", "Polymalformative genetic syndrome with increased risk of developing cancer": "ORPHA:183422", "Respiratory malformation": "ORPHA:182111", "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy": "ORPHA:136", "CADASIL": "ORPHA:136", "Hereditary multi-infarct dementia": "ORPHA:136", "Rare urogenital tumor": "ORPHA:182114", "Congenital bilateral absence of vas deferens": "ORPHA:48", "Congenital bilateral agenesis of vas deferens": "ORPHA:48", "Congenital bilateral aplasia of vas deferens": "ORPHA:48", "Non-syndromic urogenital tract malformation of female": "ORPHA:182117", "Non-syndromic urogenital tract malformation of male": "ORPHA:182121", "Non-syndromic urogenital tract malformation of male and female": "ORPHA:182124", "Extragonadal germinoma": "ORPHA:182127", "Tumor of endocrine glands": "ORPHA:182130", "Congenital generalized lipodystrophy": "ORPHA:528", "BSCL": "ORPHA:528", "Berardinelli-Seip congenital lipodystrophy": "ORPHA:528", "Berardinelli-Seip syndrome": "ORPHA:528", "CGL": "ORPHA:528", "Lipoatrophic diabetes": "ORPHA:528", "OBSOLETE: Rare inflammatory eye disease": "ORPHA:182214", "Severe combined immunodeficiency due to DCLRE1C deficiency": "ORPHA:275", "SCID due to ARTEMIS deficiency": "ORPHA:275", "SCID due to DCLRE1C deficiency": "ORPHA:275", "SCID, Athabascan type": "ORPHA:275", "SCID, Athabaskan type": "ORPHA:275", "Severe combined immunodeficiency due to ARTEMIS deficiency": "ORPHA:275", "Severe combined immunodeficiency, Athabascan type": "ORPHA:275", "Severe combined immunodeficiency, Athabaskan type": "ORPHA:275", "Channelopathy with epilepsy": "ORPHA:182083", "Acquired peripheral neuropathy": "ORPHA:182086", "Pulmonary arterial hypertension": "ORPHA:182090", "PAH": "ORPHA:99083", "Interstitial lung disease": "ORPHA:182095", "ILD": "ORPHA:182095", "Pneumoconiosis": "ORPHA:182098", "Cherubism": "ORPHA:184", "CRBM": "ORPHA:184", "Idiopathic eosinophilic pneumonia": "ORPHA:182101", "Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease": "ORPHA:182104", "CTD-ILD": "ORPHA:182104", "Secondary ILD in childhood and adulthood associated with a connective tissue disease": "ORPHA:182104", "Sideroblastic anemia": "ORPHA:1047", "Thoracic malformation": "ORPHA:182108", "Chylomicron retention disease": "ORPHA:71", "Anderson disease": "ORPHA:71", "CMRD": "ORPHA:71", "CRD": "ORPHA:71", "Glial tumor": "ORPHA:182067", "Glioma": "ORPHA:182067", "Rare neuroinflammatory or neuroimmunological disease": "ORPHA:182064", "Cerebellar malformation": "ORPHA:182061", "Primary orthostatic hypotension": "ORPHA:182058", "ARX-related epileptic encephalopathy": "ORPHA:182079", "Self-limited neonatal epilepsy": "ORPHA:1949", "BFNS": "ORPHA:1949", "Benign familial neonatal convulsions": "ORPHA:1949", "Benign familial neonatal epilepsy": "ORPHA:1949", "Benign familial neonatal seizures": "ORPHA:1949", "SeLNE": "ORPHA:1949", "OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability": "ORPHA:182076", "Hidrotic ectodermal dysplasia": "ORPHA:189", "Clouston syndrome": "ORPHA:189", "Uveal coloboma-cleft lip and palate-intellectual disability": "ORPHA:1473", "OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability": "ORPHA:182073", "Rare neurodegenerative disease": "ORPHA:182070", "OBSOLETE: Ocular coloboma": "ORPHA:194", "Rare aplastic anemia": "ORPHA:182040", "Rare thrombotic disease of hematologic origin": "ORPHA:182054", "Atrial standstill": "ORPHA:1344", "Atrial cardiomyopathy with heart block": "ORPHA:1344", "MYH9-related disease": "ORPHA:182050", "MYH9-RD": "ORPHA:182050", "MYH9-related disorder": "ORPHA:182050", "MYH9-related syndrome": "ORPHA:182050", "MYH9-related syndromic thrombocytopenia": "ORPHA:182050", "Rare acquired hemolytic anemia": "ORPHA:182047", "Rare constitutional hemolytic anemia": "ORPHA:182043", "Roberts syndrome": "ORPHA:3103", "Pseudothalidomide syndrome": "ORPHA:3103", "Roberts-SC phocomelia syndrome": "ORPHA:3103", "SC phocomelia": "ORPHA:3103", "SC pseudothalidomide syndrome": "ORPHA:3103", "OBSOLETE: Rare major hypertriglyceridemia": "ORPHA:181425", "Familial Hyperalphalipoproteinemia": "ORPHA:181428", "Rare hypoaldosteronism": "ORPHA:181419", "Rare hyperlipidemia": "ORPHA:181422", "Peters plus syndrome": "ORPHA:709", "Krause-Kivlin syndrome": "ORPHA:709", "Krause-van Schooneveld-Kivlin syndrome": "ORPHA:709", "Peters anomaly with short limb dwarfism": "ORPHA:709", "Rare syndromic dyslipidemia": "ORPHA:181437", "Rare disorder with hypergonadotropic hypogonadism": "ORPHA:181441", "Rare disorder with primary hypogonadism": "ORPHA:181441", "Rare hypolipidemia": "ORPHA:181431", "Lujan-Fryns syndrome": "ORPHA:776", "X-linked intellectual disability with marfanoid habitus": "ORPHA:776", "Rare hyperthyroidism": "ORPHA:181399", "PIBIDS syndrome": "ORPHA:670", "Trichothiodystrophy type F": "ORPHA:670", "Trichothiodystrophy-sun sensitivity syndrome": "ORPHA:670", "Syndrome with hypoparathyroidism": "ORPHA:181402", "NON RARE IN EUROPE: Wolff-Parkinson-White syndrome": "ORPHA:907", "NON RARE IN EUROPE: Ventricular familial preexcitation syndrome": "ORPHA:907", "Growth hormone insensitivity syndrome": "ORPHA:181393", "GHIS": "ORPHA:181393", "Short stature due to a defect in growth hormone receptor or post-receptor pathway": "ORPHA:181393", "Werner syndrome": "ORPHA:902", "Adult progeria": "ORPHA:902", "WS": "ORPHA:902", "Rare hypothyroidism": "ORPHA:181396", "Van der Woude syndrome": "ORPHA:888", "Cleft lip/palate with mucous cysts of lower lip": "ORPHA:888", "Lip-pit syndrome": "ORPHA:888", "VWS": "ORPHA:888", "Adrenogenital syndrome": "ORPHA:181412", "Rare primary hyperaldosteronism": "ORPHA:181415", "Rare primary aldosteronism": "ORPHA:181415", "IBIDS syndrome": "ORPHA:453", "Tay syndrome": "ORPHA:453", "Trichothiodystrophy type E": "ORPHA:453", "Trichothiodystrophy with congenital ichthyosis": "ORPHA:453", "Rare hypoparathyroidism": "ORPHA:181405", "Familial progressive cardiac conduction defect": "ORPHA:871", "Familial Len\u00e8gre disease": "ORPHA:871", "Familial Lev disease": "ORPHA:871", "Familial Lev-Len\u00e8gre disease": "ORPHA:871", "Familial PCCD": "ORPHA:871", "Familial progressive heart block": "ORPHA:871", "Hereditary bundle branch defect": "ORPHA:871", "Rare hyperparathyroidism": "ORPHA:181408", "Distal deletion 17q syndrome": "ORPHA:1597", "Distal monosomy 17q": "ORPHA:1597", "Monosomy 17qter": "ORPHA:1597", "Telomeric deletion 17q": "ORPHA:1597", "Distal deletion 13q syndrome": "ORPHA:1590", "13q32 deletion": "ORPHA:1590", "Deletion 13q32": "ORPHA:1590", "Distal monosomy 13q": "ORPHA:1590", "Monosomy 13q32": "ORPHA:1590", "Telomeric deletion 13q": "ORPHA:1590", "Monosomy 13q14 syndrome": "ORPHA:1587", "Del(13)(q14)": "ORPHA:1587", "Deletion 13q14": "ORPHA:1587", "OBSOLETE: Deletion 4q": "ORPHA:1625", "OBSOLETE: Monosomy 4q": "ORPHA:1625", "3q13 microdeletion syndrome": "ORPHA:1621", "Del(3)(q13)": "ORPHA:1621", "Monosomy 3q13": "ORPHA:1621", "Distal deletion 3p syndrome": "ORPHA:1620", "3p deletion syndrome": "ORPHA:1620", "3p- syndrome": "ORPHA:1620", "Distal monosomy 3p": "ORPHA:1620", "Monosomy 3pter": "ORPHA:1620", "Telomeric monosomy 3p": "ORPHA:1620", "OBSOLETE: Deletion 20p": "ORPHA:1611", "OBSOLETE: Monosomy 20p": "ORPHA:1611", "Xp22.3 microdeletion syndrome": "ORPHA:1643", "Del(X)(p23)": "ORPHA:1643", "Deletion 5q35 syndrome": "ORPHA:1627", "Del (5)(q35)": "ORPHA:1627", "Del (5)(qter)": "ORPHA:1627", "Distal 5q deletion": "ORPHA:1627", "Monosomy 5q35": "ORPHA:1627", "Telomeric deletion 5q": "ORPHA:1627", "Trisomy 12p syndrome": "ORPHA:1699", "Duplication 12p": "ORPHA:1699", "Non-distal duplication 10q syndrome": "ORPHA:1695", "Non-distal trisomy 10q": "ORPHA:1695", "Non-telomeric trisomy 10q": "ORPHA:1695", "Noonan syndrome with multiple lentigines": "ORPHA:500", "Cardiomyopathic lentiginosis": "ORPHA:500", "Familial multiple lentigines syndrome": "ORPHA:500", "LEOPARD syndrome": "ORPHA:500", "Leishmaniasis": "ORPHA:507", "Leprosy": "ORPHA:548", "Duane retraction syndrome": "ORPHA:233", "DRS": "ORPHA:233", "DURS": "ORPHA:233", "Duane syndrome": "ORPHA:233", "Stilling-Turk-Duane syndrome": "ORPHA:233", "Congenital isolated hyperinsulinism": "ORPHA:657", "PHHI": "ORPHA:657", "Persistent hyperinsulinemic hypoglycemia of infancy": "ORPHA:657", "Conotruncal heart malformations": "ORPHA:2445", "Meningioma": "ORPHA:2495", "Familial or sporadic hemiplegic migraine": "ORPHA:569", "NON RARE IN EUROPE: FG syndrome phenotypic spectrum": "ORPHA:323", "Cleft palate": "ORPHA:2014", "L\u00e9ri-Weill dyschondrosteosis": "ORPHA:240", "L\u00e9ri-Weill syndrome": "ORPHA:240", "Autosomal recessive spondylocostal dysostosis": "ORPHA:2311", "Jarcho-Levin syndrome": "ORPHA:2311", "Gitelman syndrome": "ORPHA:358", "46,XY complete gonadal dysgenesis": "ORPHA:242", "46,XY CGD": "ORPHA:242", "46,XY pure gonadal dysgenesis": "ORPHA:242", "Swyer syndrome": "ORPHA:242", "Fraser syndrome": "ORPHA:2052", "Cryptophthalmos-syndactyly syndrome": "ORPHA:2052", "Heart defects-limb shortening syndrome": "ORPHA:1354", "Carey-Fineman-Ziter syndrome": "ORPHA:1358", "Myopathy-Moebius-Robin syndrome": "ORPHA:1358", "Non-syndromic anorectal malformation": "ORPHA:557", "Non-syndromic ARM": "ORPHA:557", "Barth syndrome": "ORPHA:111", "3-methylglutaconic aciduria type 2": "ORPHA:111", "BTHS": "ORPHA:111", "Cardioskeletal myopathy with neutropenia and abnormal mitochondria": "ORPHA:111", "Cardioskeletal myopathy-neutropenia syndrome": "ORPHA:111", "MGA2": "ORPHA:111", "X-linked cardioskeletal myopathy and neutropenia": "ORPHA:111", "48,XXYY syndrome": "ORPHA:10", "C syndrome": "ORPHA:1308", "OTCS": "ORPHA:1308", "Opitz C trigonocephaly": "ORPHA:1308", "Opitz trigonocephaly C syndrome": "ORPHA:1308", "Opitz trigonocephaly syndrome": "ORPHA:1308", "Trigonocephaly C syndrome": "ORPHA:1308", "Nasopharyngeal carcinoma": "ORPHA:150", "NCP": "ORPHA:150", "Squamous cell carcinoma of the nasopharynx": "ORPHA:150", "Chronic beryllium disease": "ORPHA:133", "Berylliosis": "ORPHA:133", "Chronic berylliosis": "ORPHA:133", "Chronic beryllium lung disease": "ORPHA:133", "Currarino syndrome": "ORPHA:1552", "Currarino triad": "ORPHA:1552", "Ring chromosome 8 syndrome": "ORPHA:1450", "Ring 8": "ORPHA:1450", "Ring chromosome 8": "ORPHA:1450", "r(8) syndrome": "ORPHA:1450", "Ring chromosome 6 syndrome": "ORPHA:1448", "Ring 6": "ORPHA:1448", "Ring chromosome 6": "ORPHA:1448", "Non-distal deletion 10q syndrome": "ORPHA:1581", "Non-distal monosomy 10q": "ORPHA:1581", "Non-telomeric monosomy 10q": "ORPHA:1581", "Distal deletion 10p syndrome": "ORPHA:1580", "Distal monosomy 10p": "ORPHA:1580", "Monosomy 10pter": "ORPHA:1580", "Telomeric deletion 10p": "ORPHA:1580", "Ring chromosome 1 syndrome": "ORPHA:1437", "Ring 1": "ORPHA:1437", "Ring chromosome 1": "ORPHA:1437", "r(1) syndrome": "ORPHA:1437", "Progressive familial intrahepatic cholestasis": "ORPHA:172", "PFIC": "ORPHA:172", "NON RARE IN EUROPE: Cerebral cavernous malformations": "ORPHA:164", "NON RARE IN EUROPE: Brain cavernous angioma": "ORPHA:164", "NON RARE IN EUROPE: Brain cavernous hemangioma": "ORPHA:164", "NON RARE IN EUROPE: Cerebral cavernoma": "ORPHA:164", "Ring chromosome 4 syndrome": "ORPHA:1447", "Ring 4": "ORPHA:1447", "Ring chromosome 4": "ORPHA:1447", "Syndrome r(4)": "ORPHA:1447", "r(4) syndrome": "ORPHA:1447", "Ring chromosome 20 syndrome": "ORPHA:1444", "Ring 20": "ORPHA:1444", "Ring chromosome 20": "ORPHA:1444", "Ring chromosome 12 syndrome": "ORPHA:1439", "Ring 12": "ORPHA:1439", "Ring chromosome 12": "ORPHA:1439", "Ring chromosome 10 syndrome": "ORPHA:1438", "Ring 10": "ORPHA:1438", "Ring chromosome 10": "ORPHA:1438", "Nakajo-Nishimura syndrome": "ORPHA:2615", "Amyotrophy-fat tissue anomaly syndrome": "ORPHA:2615", "Secondary hypertrophic osteoperiostosis with pernio": "ORPHA:2615", "Familial multiple nevi flammei": "ORPHA:624", "Familial multiple port-wine stains": "ORPHA:624", "OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome": "ORPHA:2601", "Inverted duplicated chromosome 15 syndrome": "ORPHA:3306", "Duplication/inversion 15q11": "ORPHA:3306", "Inv dup (15) syndrome": "ORPHA:3306", "Isodicentric chromosome 15 syndrome": "ORPHA:3306", "Non-distal tetrasomy 15q": "ORPHA:3306", "Non-telomeric tetrasomy 15q": "ORPHA:3306", "idic (15) syndrome": "ORPHA:3306", "Trisomy X syndrome": "ORPHA:3375", "47,XXX syndrome": "ORPHA:3375", "Triplo-X syndrome": "ORPHA:3375", "XXX syndrome": "ORPHA:3375", "Tetrasomy 9p syndrome": "ORPHA:3310", "Isochromosome 9p": "ORPHA:3310", "Familial peripheral male-limited precocious puberty": "ORPHA:3000", "FMPP": "ORPHA:3000", "Familial gonadotropin-independent male-limited sexual precocity": "ORPHA:3000", "Male-limited precocious puberty": "ORPHA:3000", "Testotoxicosis": "ORPHA:3000", "Normokalemic periodic paralysis": "ORPHA:680", "NormoKPP": "ORPHA:680", "NormoPP": "ORPHA:680", "Normokalemic PP": "ORPHA:680", "Periodic paralysis type 3": "ORPHA:680", "Potassium-sensitive normokalemic periodic paralysis": "ORPHA:680", "Tetraploidy syndrome": "ORPHA:3305", "Spina bifida-hypospadias syndrome": "ORPHA:3176", "Mosaic trisomy 16 syndrome": "ORPHA:1708", "Mosaic trisomy chromosome 16": "ORPHA:1708", "Trisomy 16 mosaicism": "ORPHA:1708", "Mosaic trisomy 17 syndrome": "ORPHA:1711", "Mosaic trisomy chromosome 17": "ORPHA:1711", "Trisomy 17 mosaicism": "ORPHA:1711", "Triploidy syndrome": "ORPHA:3376", "Mosaic trisomy 1 syndrome": "ORPHA:1692", "Mosaic trisomy chromosome 1": "ORPHA:1692", "Trisomy 1 mosaicism": "ORPHA:1692", "Mosaic trisomy 12 syndrome": "ORPHA:1698", "Mosaic trisomy chromosome 12": "ORPHA:1698", "Trisomy 12 mosaicism": "ORPHA:1698", "Mosaic trisomy 15 syndrome": "ORPHA:1706", "Mosaic trisomy chromosome 15": "ORPHA:1706", "Trisomy 15 mosaicism": "ORPHA:1706", "Aase-Smith syndrome": "ORPHA:916", "Aase-Smith I syndrome": "ORPHA:916", "Hydrocephalus-cleft palate-joint contractures syndrome": "ORPHA:916", "ABCD syndrome": "ORPHA:918", "Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome": "ORPHA:918", "Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome": "ORPHA:918", "Ablepharon macrostomia syndrome": "ORPHA:920", "Ring chromosome 21 syndrome": "ORPHA:1445", "3C syndrome": "ORPHA:7", "Craniocerebellocardiac dysplasia": "ORPHA:7", "Ritscher-Schinzel syndrome": "ORPHA:7", "Isolated acheiropodia": "ORPHA:931", "Isolated acheiropody": "ORPHA:931", "Achalasia-microcephaly syndrome": "ORPHA:929", "Triple A syndrome": "ORPHA:869", "2A syndrome": "ORPHA:869", "3A syndrome": "ORPHA:869", "4A syndrome": "ORPHA:869", "AAA syndrome": "ORPHA:869", "Achalasia-addisonianism-alacrima syndrome": "ORPHA:869", "Adrenal insufficiency-achalasia-alacrima syndrome": "ORPHA:869", "Allgrove syndrome": "ORPHA:869", "Double A syndrome": "ORPHA:869", "Quaternary A syndrome": "ORPHA:869", "Insulin-resistance syndrome type A": "ORPHA:2297", "Familial nasal acilia": "ORPHA:922", "Abruzzo-Erickson syndrome": "ORPHA:921", "CHARGE-like syndrome": "ORPHA:921", "Cleft palate-coloboma-deafness syndrome": "ORPHA:921", "Cleft palate-coloboma-hearing loss syndrome": "ORPHA:921", "Vitamin B12-unresponsive methylmalonic acidemia": "ORPHA:27", "Methylmalonyl-CoA mutase deficiency": "ORPHA:27", "Methylmalonyl-Coenzyme A mutase deficiency": "ORPHA:27", "Vitamin B12-unresponsive methylmalonic aciduria": "ORPHA:27", "3-hydroxyisobutyric aciduria": "ORPHA:939", "Oxoglutaric aciduria": "ORPHA:31", "Alpha-ketoglutarate dehydrogenase deficiency": "ORPHA:31", "Short-limb skeletal dysplasia with severe combined immunodeficiency": "ORPHA:935", "Achondroplasia-SCID syndrome": "ORPHA:935", "Achondroplasia-Swiss type agammaglobulinemia syndrome": "ORPHA:935", "Achondroplasia-severe combined immunodeficiency syndrome": "ORPHA:935", "Immunodeficiency-short limb dwarfism syndrome": "ORPHA:935", "Short limb skeletal dysplasia with SCID": "ORPHA:935", "Achondrogenesis": "ORPHA:932", "OBSOLETE: Peripheral dysostosis": "ORPHA:1795", "Acrodermatitis enteropathica": "ORPHA:37", "AEZ": "ORPHA:37", "Acrodermatitis enteropathica, zinc deficiency type": "ORPHA:37", "Inherited zinc deficiency": "ORPHA:37", "Acrodysostosis": "ORPHA:950", "Acrodysostosis with or without multiple hormonal resistance": "ORPHA:950", "Acrodysplasia": "ORPHA:950", "Arkless-Graham syndrome": "ORPHA:950", "Maroteaux-Malamut syndrome": "ORPHA:950", "Acrocraniofacial dysostosis": "ORPHA:949", "Kaplan-Plauchu-Fitch syndrome": "ORPHA:949", "Acalvaria": "ORPHA:945", "Primary acalvaria": "ORPHA:945", "OBSOLETE: Acrocephalosyndactyly": "ORPHA:946", "OBSOLETE: Acrocephalosyndactylia": "ORPHA:946", "Acropectorovertebral dysplasia": "ORPHA:957", "F syndrome": "ORPHA:957", "Acro-renal-mandibular syndrome": "ORPHA:958", "Split hand/split foot-mandibular hypoplasia syndrome": "ORPHA:958", "Hajdu-Cheney syndrome": "ORPHA:955", "Acroosteolysis dominant type": "ORPHA:955", "Acroosteolysis with osteoporosis and changes in skull and mandible": "ORPHA:955", "Arthrodentoosteodysplasia": "ORPHA:955", "Cheney syndrome": "ORPHA:955", "Acropectororenal dysplasia": "ORPHA:956", "OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type": "ORPHA:953", "Acrofacial dysostosis, Weyers type": "ORPHA:952", "Curry-Hall syndrome": "ORPHA:952", "Weyers acrodental dysostosis": "ORPHA:952", "Weyers acrofacial dysostosis": "ORPHA:952", "Non-distal duplication 13q syndrome": "ORPHA:1702", "Non-distal trisomy 13q": "ORPHA:1702", "Non-telomeric trisomy 13q": "ORPHA:1702", "Mosaic trisomy 14 syndrome": "ORPHA:1703", "Mosaic trisomy chromosome 14": "ORPHA:1703", "Trisomy 14 mosaicism": "ORPHA:1703", "Distal duplication 14q syndrome": "ORPHA:1705", "Telomeric duplication 14q": "ORPHA:1705", "Trisomy 14qter": "ORPHA:1705", "17p11.2 microduplication syndrome": "ORPHA:1713", "Potocki-Lupski syndrome": "ORPHA:1713", "Trisomy 17p11.2": "ORPHA:1713", "Trisomy 4p syndrome": "ORPHA:1738", "Duplication 4p": "ORPHA:1738", "Duplication of the short arm of chromosome 4": "ORPHA:1738", "Trisomy of the short arm of chromosome 4": "ORPHA:1738", "OBSOLETE: Duplication 4q": "ORPHA:1739", "OBSOLETE: Trisomy 4q": "ORPHA:1739", "Trisomy 5p syndrome": "ORPHA:1742", "Duplication 5p": "ORPHA:1742", "Duplication of the short arm of chromosome 5": "ORPHA:1742", "Trisomy of the short arm of chromosome 5": "ORPHA:1742", "Distal duplication 6p syndrome": "ORPHA:1745", "Distal trisomy 6p": "ORPHA:1745", "Telomeric duplication 6p": "ORPHA:1745", "Trisomy 6pter": "ORPHA:1745", "Trisomy 8q syndrome": "ORPHA:1752", "Duplication 8q": "ORPHA:1752", "Proximal Xq28 duplication syndrome": "ORPHA:1762", "MECP2 duplication syndrome": "ORPHA:1762", "X-linked intellectual disability syndrome, Lubs type": "ORPHA:1762", "TRIM32-related limb-girdle muscular dystrophy R8": "ORPHA:1878", "Autosomal recessive limb-girdle muscular dystrophy type 2H": "ORPHA:1878", "LGMD due to TRIM32 deficiency": "ORPHA:1878", "LGMD type 2H": "ORPHA:1878", "LGMD2H": "ORPHA:1878", "Limb-girdle muscular dystrophy due to TRIM32 deficiency": "ORPHA:1878", "Limb-girdle muscular dystrophy type 2H": "ORPHA:1878", "Sarcotubular myopathy": "ORPHA:1878", "TRIM32-related LGMD R8": "ORPHA:1878", "Muscular dystrophy-white matter spongiosis syndrome": "ORPHA:1877", "Oculogastrointestinal muscular dystrophy": "ORPHA:1876", "Visceral myopathy-familial external ophthalmoplegia syndrome": "ORPHA:1876", "Epilepsy-microcephaly-skeletal dysplasia syndrome": "ORPHA:1948", "Battaglia-Neri syndrome": "ORPHA:1948", "Amelocerebrohypohidrotic syndrome": "ORPHA:1946", "Epilepsy-dementia-amelogenesis imperfecta syndrome": "ORPHA:1946", "Kohlsch\u00fctter-T\u00f6nz syndrome": "ORPHA:1946", "Fanconi syndrome-ichthyosis-dysmorphism syndrome": "ORPHA:1981", "Deal-Barrat-Dillon syndrome": "ORPHA:1981", "Epilepsy-telangiectasia syndrome": "ORPHA:1951", "Griscelli syndrome": "ORPHA:381", "Ch\u00e9diak-Higashi-like syndrome": "ORPHA:381", "Griscelli-Pruni\u00e9ras syndrome": "ORPHA:381", "Partial albinism-immunodeficiency syndrome": "ORPHA:381", "Familial visceral myopathy": "ORPHA:2604", "Familial hollow visceral myopathy": "ORPHA:2604", "Hereditary hollow visceral myopathy": "ORPHA:2604", "Megaduodenum and/or megacystis": "ORPHA:2604", "Carnitine palmitoyl transferase 1A deficiency": "ORPHA:156", "CPT1A deficiency": "ORPHA:156", "Carnitine palmitoyl transferase IA deficiency": "ORPHA:156", "Hepatic carnitine palmitoyl transferase 1 deficiency": "ORPHA:156", "Hepatic carnitine palmitoyl transferase I deficiency": "ORPHA:156", "L-CPT1 deficiency": "ORPHA:156", "L-CPTI deficiency": "ORPHA:156", "Mitochondrial myopathy-lactic acidosis-deafness syndrome": "ORPHA:2597", "Mitochondrial myopathy-lactic acidosis-hearing loss syndrome": "ORPHA:2597", "Mitochondrial myopathy and sideroblastic anemia": "ORPHA:2598", "MLASA": "ORPHA:2598", "Myopathy, lactic acidosis and sideroblastic anemia": "ORPHA:2598", "OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome": "ORPHA:1088", "OBSOLETE: Rommen-Mueller-Sybert syndrome": "ORPHA:1088", "Thumb stiffness-brachydactyly-intellectual disability syndrome": "ORPHA:1078", "Piussan-Lenaerts-Mathieu syndrome": "ORPHA:1078", "Dental ankylosis": "ORPHA:1077", "Ankylosis of teeth": "ORPHA:1077", "Ankyloblepharon filiforme adnatum-imperforate anus syndrome": "ORPHA:1074", "Aughton-Hufnagle syndrome": "ORPHA:1074", "Ankyloblepharon filiforme adnatum-cleft palate syndrome": "ORPHA:1072", "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome": "ORPHA:1071", "AEC syndrome": "ORPHA:1071", "Hay-Wells syndrome": "ORPHA:1071", "Aniridia-absent patella syndrome": "ORPHA:1069", "Aniridia-intellectual disability syndrome": "ORPHA:1068", "Walker-Dyson syndrome": "ORPHA:1068", "Aniridia-ptosis-intellectual disability-familial obesity syndrome": "ORPHA:1067", "Aniridia-renal agenesis-psychomotor retardation syndrome": "ORPHA:1064", "Sommer-Rathbun-Battles syndrome": "ORPHA:1064", "Hereditary neurocutaneous malformation": "ORPHA:1062", "Systemic cystic angiomatosis-Seip syndrome": "ORPHA:1060", "Brunzell syndrome": "ORPHA:1060", "OBSOLETE: Rare sucking/swallowing disorder": "ORPHA:138221", "OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome": "ORPHA:1057", "OBSOLETE: Acquired alimentary behavior disorder of infancy": "ORPHA:138118", "Vein of Galen aneurysmal malformation": "ORPHA:1053", "Vein of Galen arteriovenous malformations": "ORPHA:1053", "OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease": "ORPHA:138115", "OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies": "ORPHA:138112", "Congenital left ventricular aneurysm": "ORPHA:1055", "OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies": "ORPHA:138109", "OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies": "ORPHA:138104", "Mosaic variegated aneuploidy syndrome": "ORPHA:1052", "Warburton-Anyane-Yeboa syndrome": "ORPHA:1052", "OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies": "ORPHA:138101", "OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies": "ORPHA:138095", "OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation": "ORPHA:138084", "Metaphyseal anadysplasia": "ORPHA:1040", "Maroteaux-Verloes-Stanescu syndrome": "ORPHA:1040", "Regressive metaphyseal dysplasia": "ORPHA:1040", "OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome": "ORPHA:138080", "Hydrops fetalis": "ORPHA:1041", "Fetal anasarca": "ORPHA:1041", "Fetal hydrops": "ORPHA:1041", "Generalized fetal edema": "ORPHA:1041", "HF": "ORPHA:1041", "OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly": "ORPHA:138076", "Arthrogryposis multiplex congenita": "ORPHA:1037", "AMC": "ORPHA:1037", "Multiple congenital arthrogryposis": "ORPHA:1037", "OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome": "ORPHA:138072", "Aprosencephaly cerebellar dysgenesis": "ORPHA:1126", "Ocular motor apraxia, Cogan type": "ORPHA:1125", "Oculomotor apraxia, Cogan type": "ORPHA:1125", "Radial deficiency-tibial hypoplasia syndrome": "ORPHA:1121", "Lung agenesis-heart defect-thumb anomalies syndrome": "ORPHA:1120", "Mardini-Nyhan syndrome": "ORPHA:1120", "Ulnar hypoplasia-split foot syndrome": "ORPHA:1122", "Ulnar hypoplasia-lobster-claw deformity of feet syndrome": "ORPHA:1122", "Van den Berghe-Dequecker syndrome": "ORPHA:1122", "Aplasia cutis congenita-intestinal lymphangiectasia syndrome": "ORPHA:1116", "Bronspiegel-Zelnick syndrome": "ORPHA:1116", "OBSOLETE: Recessive aplasia cutis congenita of limbs": "ORPHA:1115", "Fibular aplasia-ectrodactyly syndrome": "ORPHA:1118", "Aplasia cutis-myopia syndrome": "ORPHA:1117", "Gershoni-Baruch-Leibo syndrome": "ORPHA:1117", "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome": "ORPHA:1110", "Aphalangy-syndactyly-microcephaly syndrome": "ORPHA:1113", "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome": "ORPHA:1112", "Johnson-Munson syndrome": "ORPHA:1112", "Microphthalmia with limb anomalies": "ORPHA:1106", "Anophthalmia-syndactyly syndrome": "ORPHA:1106", "OAS": "ORPHA:1106", "Ophthalmoacromelic syndrome": "ORPHA:1106", "Waardenburg anophthalmia syndrome": "ORPHA:1106", "Antley-Bixler syndrome": "ORPHA:83", "Anophthalmia-hypothalamo-pituitary insufficiency syndrome": "ORPHA:1102", "14q22 microdeletion syndrome": "ORPHA:1102", "Al Frayh-Facharzt-Haque syndrome": "ORPHA:1102", "Monosomy 14q22": "ORPHA:1102", "Anophthalmia plus syndrome": "ORPHA:1104", "Fryns microphthalmia syndrome": "ORPHA:1104", "Microphthalmia with facial clefting": "ORPHA:1104", "Anonychia-microcephaly syndrome": "ORPHA:1094", "Teebi-Kaurah syndrome": "ORPHA:1094", "Renal-genital-middle ear anomalies": "ORPHA:1092", "PAGOD syndrome": "ORPHA:991", "Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome": "ORPHA:991", "Orofacial clefting syndrome": "ORPHA:139039", "Agnathia-holoprosencephaly-situs inversus syndrome": "ORPHA:990", "Hypoglossia-hypodactyly syndrome": "ORPHA:989", "Aglossia-adactylia syndrome": "ORPHA:989", "Hanhart syndrome": "ORPHA:989", "Jussieu syndrome": "ORPHA:989", "Malformation syndrome with odontal and/or periodontal component": "ORPHA:139042", "Fetal akinesia deformation sequence": "ORPHA:994", "Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome": "ORPHA:994", "FADS": "ORPHA:994", "Pena-Shokeir syndrome type 1": "ORPHA:994", "Aicardi-Gouti\u00e8res syndrome": "ORPHA:51", "Encephalopathy with basal ganglia calcification": "ORPHA:51", "Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid": "ORPHA:51", "Malformation syndrome with short stature": "ORPHA:139021", "Internal carotid absence": "ORPHA:981", "Overgrowth/obesity syndrome": "ORPHA:139024", "OBSOLETE: Chondrodysplastic malformation syndrome": "ORPHA:139015", "ADULT syndrome": "ORPHA:978", "Acro-dermato-ungual-lacrimal-tooth syndrome": "ORPHA:978", "Pigment anomaly-ectrodactyly-hypodontia syndrome": "ORPHA:978", "OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones": "ORPHA:139018", "Adrenomyodystrophy": "ORPHA:977", "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome": "ORPHA:988", "Absent tibia-polydactyly syndrome": "ORPHA:988", "Werner mesomelic spectrum": "ORPHA:988", "Progeroid syndrome": "ORPHA:139033", "Branchial arch or oral-acral syndrome": "ORPHA:139036", "Rare developmental defect with skin/mucosae involvement": "ORPHA:139027", "Testicular regression syndrome": "ORPHA:983", "ETRS": "ORPHA:983", "Embryonic testicular regression syndrome": "ORPHA:983", "TRS": "ORPHA:983", "Vanishing testes syndrome": "ORPHA:983", "Vanishing testis syndrome": "ORPHA:983", "XY gonadal agenesis syndrome": "ORPHA:983", "Rare developmental defect with connective tissue involvement": "ORPHA:139030", "Hereditary sensory and autonomic neuropathy type 2": "ORPHA:970", "Autosomal recessive sensory radicular neuropathy": "ORPHA:970", "HSAN2": "ORPHA:970", "Hereditary sensory and autonomic neuropathy type II": "ORPHA:970", "Neurogenic acroosteolysis": "ORPHA:970", "Acrorenal syndrome": "ORPHA:971", "Acromesomelic dysplasia, Maroteaux type": "ORPHA:40", "Acromicric dysplasia": "ORPHA:969", "Rare bone development disorder": "ORPHA:139012", "Rare skeletal development disorder": "ORPHA:139012", "Adams-Oliver syndrome": "ORPHA:974", "AOS": "ORPHA:974", "Aplasia cutis congenita with distal limb anomalies": "ORPHA:974", "Aplasia cutis congenita with terminal transverse limb defects": "ORPHA:974", "Congenital scalp defects with distal limb anomalies": "ORPHA:974", "Congenital scalp defects with distal limb reduction anomalies": "ORPHA:974", "Developmental anomaly of metabolic origin": "ORPHA:139009", "OBSOLETE: Sequence or association": "ORPHA:139006", "Hereditary continuous muscle fiber activity": "ORPHA:972", "Isolated absence/hypoplasia of fingers excluding thumb, unilateral": "ORPHA:973", "Isolated congenital adactyly of hand, unilateral": "ORPHA:973", "Isolated digits 2-5 hypodactyly, unilateral": "ORPHA:973", "Isolated digits 2-5 oligodactyly, unilateral": "ORPHA:973", "Acromegaly-cutis verticis gyrata-corneal leukoma syndrome": "ORPHA:964", "Acro-renal-ocular syndrome": "ORPHA:959", "Acromesomelic dysplasia, Hunter-Thompson type": "ORPHA:968", "Acromesomelic dwarfism": "ORPHA:968", "Acromegaloid facial appearance syndrome": "ORPHA:965", "Hypertrichosis-acromegaloid facial appearance syndrome": "ORPHA:966", "HAFF": "ORPHA:966", "Hypertrichosis-acromegaloid facial features syndrome": "ORPHA:966", "Hypertrichosis-coarse face syndrome": "ORPHA:966", "Carney triad": "ORPHA:139411", "Congenital panfollicular nevus": "ORPHA:139414", "Amelo-onycho-hypohidrotic syndrome": "ORPHA:1028", "Ameloonychohypohidrotic ectodermal dysplasia": "ORPHA:1028", "Ameloonychohypohidrotic syndrome": "ORPHA:1028", "Acute transverse myelitis": "ORPHA:139417", "Enamel-renal syndrome": "ORPHA:1031", "Amelogenesis imperfecta-nephrocalcinosis syndrome": "ORPHA:1031", "OBSOLETE: Secondary acute transverse myelitis": "ORPHA:139420", "OBSOLETE: Disease-associated transverse myelitis": "ORPHA:139420", "OBSOLETE: Amniotic bands": "ORPHA:1034", "OBSOLETE: ADAM syndrome": "ORPHA:1034", "OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome": "ORPHA:1034", "Idiopathic acute transverse myelitis": "ORPHA:139423", "Perioral myoclonia with absences": "ORPHA:139426", "POMA": "ORPHA:139426", "Epilepsy with eyelid myoclonia": "ORPHA:139431", "EMA": "ORPHA:139431", "EMEA": "ORPHA:139431", "Eyelid myoclonia with and without absences": "ORPHA:139431", "Jeavons syndrome": "ORPHA:139431", "Beta-mercaptolactate cysteine disulfiduria": "ORPHA:1035", "3-mercaptopyruvate sulfurtransferase deficiency": "ORPHA:1035", "Ampola syndrome": "ORPHA:1035", "MCDU": "ORPHA:1035", "Multicentric reticulohistiocytosis": "ORPHA:139436", "Giant cell histiocytomatosis": "ORPHA:139436", "Lipoid dermatoarthritis": "ORPHA:139436", "OBSOLETE: Recessive hereditary methemoglobinemia type 1": "ORPHA:139373", "OBSOLETE: NADH-cytochrome b5reductase deficiency type 1": "ORPHA:139373", "OBSOLETE: NADH-diaphorase deficiency type 1": "ORPHA:139373", "OBSOLETE: Recessive congenital methemoglobinemia type 1": "ORPHA:139373", "Amaurosis-hypertrichosis syndrome": "ORPHA:1021", "OBSOLETE: Recessive hereditary methemoglobinemia type 2": "ORPHA:139380", "OBSOLETE: NADH-cytochrome b5reductase deficiency type 2": "ORPHA:139380", "OBSOLETE: NADH-diaphorase deficiency type 2": "ORPHA:139380", "OBSOLETE: Recessive congenital methemoglobinemia type 2": "ORPHA:139380", "Alstr\u00f6m syndrome": "ORPHA:64", "Congenital generalized hypertrichosis, Ambras type": "ORPHA:1023", "Ambras syndrome": "ORPHA:1023", "Non-syndromic craniosynostosis": "ORPHA:139390", "Isolated craniosynostosis": "ORPHA:139390", "Syndromic craniosynostosis": "ORPHA:139393", "X-linked cerebral adrenoleukodystrophy": "ORPHA:139396", "X-CALD": "ORPHA:139396", "Adrenomyeloneuropathy": "ORPHA:139399", "Autosomal recessive amelia": "ORPHA:1027", "Drug reaction with eosinophilia and systemic symptoms": "ORPHA:139402", "DRESS syndrome": "ORPHA:139402", "Drug rash with eosinophilia and systemic symptoms": "ORPHA:139402", "Encephalopathy due to prosaposin deficiency": "ORPHA:139406", "Combined prosaposin deficiency": "ORPHA:139406", "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome": "ORPHA:1008", "Shokeir syndrome": "ORPHA:1008", "Alopecia universalis": "ORPHA:701", "Autosomal dominant palmoplantar keratoderma and congenital alopecia": "ORPHA:1010", "Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia": "ORPHA:1010", "PPK-CA, Stevanovic type": "ORPHA:1010", "Palmoplantar keratoderma and congenital alopecia, Stevanovic type": "ORPHA:1010", "Alopecia-hypogonadism-extrapyramidal syndrome": "ORPHA:1011", "Devriendt-Legius-Fryns syndrome": "ORPHA:1011", "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome": "ORPHA:1014", "Devriendt-Vandenberghe-Fryns syndrome": "ORPHA:1014", "2q37 microdeletion syndrome": "ORPHA:1001", "Albright hereditary osteodystrophy type 3": "ORPHA:1001", "Albright hereditary osteodystrophy-like syndrome": "ORPHA:1001", "Brachydactyly-intellectual disability syndrome": "ORPHA:1001", "Del(2)(q37)": "ORPHA:1001", "Deletion 2q37": "ORPHA:1001", "Monosomy 2q37qter": "ORPHA:1001", "Albright hereditary osteodystrophy": "ORPHA:665", "Allan-Herndon-Dudley syndrome": "ORPHA:59", "AHDS": "ORPHA:59", "MCT8 deficiency": "ORPHA:59", "Monocarboxylate transporter 8 deficiency": "ORPHA:59", "X-linked intellectual disability-hypotonia syndrome": "ORPHA:59", "Scalp defects-postaxial polydactyly syndrome": "ORPHA:1003", "Alopecia-contractures-dwarfism-intellectual disability syndrome": "ORPHA:1005", "ACD-intellectual disability syndrome": "ORPHA:1005", "Ascher syndrome": "ORPHA:1253", "Blepharochalasis-double lip syndrome": "ORPHA:1253", "Blepharofacioskeletal syndrome": "ORPHA:1251", "Richieri Costa-Guion Almeida-Rodini syndrome": "ORPHA:1251", "Blepharonasofacial malformation syndrome": "ORPHA:1252", "Pashayan syndrome": "ORPHA:1252", "Pashayan-Pruzansky syndrome": "ORPHA:1252", "Maxillonasal dysplasia": "ORPHA:1248", "Binder syndrome": "ORPHA:1248", "Maxillonasal dysostosis": "ORPHA:1248", "OBSOLETE: Blaichman syndrome": "ORPHA:1250", "OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome": "ORPHA:1250", "Borjeson-Forssman-Lehmann syndrome": "ORPHA:127", "BFLS": "ORPHA:127", "Intellectual disability-epilepsy-endocrine disorders syndrome": "ORPHA:127", "Tricho-retino-dento-digital syndrome": "ORPHA:1264", "Bork syndrome": "ORPHA:1264", "Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome": "ORPHA:1264", "B\u00f6\u00f6k syndrome": "ORPHA:1262", "Boomerang dysplasia": "ORPHA:1263", "Blepharoptosis-myopia-ectopia lentis syndrome": "ORPHA:1259", "Bonnemann-Meinecke-Reich syndrome": "ORPHA:1261", "Encephalopathy-intracerebral calcification-retinal degeneration syndrome": "ORPHA:1261", "OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome": "ORPHA:1256", "OBSOLETE: Jorgenson-Lenz syndrome": "ORPHA:1256", "OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome": "ORPHA:1235", "OBSOLETE: Basan syndrome": "ORPHA:1235", "Bartsocas-Papas syndrome": "ORPHA:1234", "Autosomal recessive popliteal pterygium syndrome": "ORPHA:1234", "Lethal popliteal pterygium syndrome": "ORPHA:1234", "Barber-Say syndrome": "ORPHA:1231", "Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome": "ORPHA:1231", "Congenital intrauterine infection-like syndrome": "ORPHA:1229", "BLC-PMG": "ORPHA:1229", "Baraitser-Brett-Piesowicz syndrome": "ORPHA:1229", "Baraitser-Reardon syndrome": "ORPHA:1229", "Bilateral band-like calcification with polymicrogyria": "ORPHA:1229", "Microcephaly-intracranial calcification-intellectual disability syndrome": "ORPHA:1229", "Pseudo-TORCH syndrome": "ORPHA:1229", "Bannayan-Riley-Ruvalcaba syndrome": "ORPHA:109", "BRRS": "ORPHA:109", "Myhre-Riley-Smith syndrome": "ORPHA:109", "Banki syndrome": "ORPHA:1228", "Bencze syndrome": "ORPHA:1241", "Hemifacial hyperplasia-strabismus syndrome": "ORPHA:1241", "Metaphyseal acroscyphodysplasia": "ORPHA:1240", "Bellini syndrome": "ORPHA:1240", "Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome": "ORPHA:1240", "Behr syndrome": "ORPHA:1239", "Beemer-Ertbruggen syndrome": "ORPHA:1237", "Lethal hydrocephalus-cardiac malformation-dense bones syndrome": "ORPHA:1237", "Auriculoosteodysplasia": "ORPHA:114", "Congenital contractural arachnodactyly": "ORPHA:115", "Beals syndrome": "ORPHA:115", "Beals-Hecht syndrome": "ORPHA:115", "CCA syndrome": "ORPHA:115", "Distal arthrogryposis type 9": "ORPHA:115", "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome": "ORPHA:1236", "Intractable diarrhea-choanal atresia-eye anomalies syndrome": "ORPHA:137622", "Nephrogenic systemic fibrosis": "ORPHA:137617", "Nephrogenic fibrosing dermopathy": "ORPHA:137617", "Brachymorphism-onychodysplasia-dysphalangism syndrome": "ORPHA:1292", "BOD syndrome": "ORPHA:1292", "Senior syndrome": "ORPHA:1292", "Cardiac anomalies-heterotaxy syndrome": "ORPHA:137628", "Brachyolmia": "ORPHA:1293", "Glycogen storage disease due to muscle and heart glycogen synthase deficiency": "ORPHA:137625", "GSD due to muscle and heart glycogen synthase deficiency": "ORPHA:137625", "GSD type 0b": "ORPHA:137625", "Glycogen storage disease type 0b": "ORPHA:137625", "Glycogenosis due to muscle and heart glycogen synthase deficiency": "ORPHA:137625", "Glycogenosis type 0b": "ORPHA:137625", "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome": "ORPHA:137608", "SOLAMEN syndrome": "ORPHA:137608", "Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome": "ORPHA:137658", "Woods-Crouchman-Huson syndrome": "ORPHA:137658", "Branchioskeletogenital syndrome": "ORPHA:1299", "BSG syndrome": "ORPHA:1299", "Elsahy-Waters syndrome": "ORPHA:1299", "Microcephaly-digital anomalies-intellectual disability syndrome": "ORPHA:137653", "Kelly-Kirson-Wyatt syndrome": "ORPHA:137653", "Pellucid marginal degeneration": "ORPHA:137672", "Autosomal dominant popliteal pterygium syndrome": "ORPHA:1300", "Facio-genito-popliteal syndrome": "ORPHA:1300", "Popliteal web syndrome": "ORPHA:1300", "Capillary malformation-arteriovenous malformation": "ORPHA:137667", "CM-AVM": "ORPHA:137667", "Bronchiectasis-oligospermia syndrome": "ORPHA:1301", "Overgrowth-macrocephaly-facial dysmorphism syndrome": "ORPHA:137634", "Brachytelephalangy-dysmorphism-Kallmann syndrome": "ORPHA:1295", "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome": "ORPHA:137631", "Lambert syndrome": "ORPHA:1296", "Branchial dysplasia-intellectual disability-inguinal hernia syndrome": "ORPHA:1296", "Branchio-oculo-facial syndrome": "ORPHA:1297", "BOFS": "ORPHA:1297", "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome": "ORPHA:137639", "Ataxia-delayed dentition-hypomyelination syndrome": "ORPHA:137639", "Neonatal hypoxic and ischemic brain injury": "ORPHA:137577", "HIE": "ORPHA:137577", "Hypoxic and ischemic brain injury in the newborn": "ORPHA:137577", "Hypoxic-ischemic encephalopathy": "ORPHA:137577", "Perinatal hypoxia": "ORPHA:137577", "Vulvar intraepithelial neoplasia": "ORPHA:137583", "VIN": "ORPHA:137583", "Vulvar intraepithelial tumor": "ORPHA:137583", "Brachydactyly-arterial hypertension syndrome": "ORPHA:1276", "Bilginturan brachydactyly": "ORPHA:1276", "Bilginturan syndrome": "ORPHA:1276", "Brachydactyly type E, with short stature and hypertension": "ORPHA:1276", "Brachydactyly-elbow wrist dysplasia syndrome": "ORPHA:1275", "Brachydactyly-joint dysplasia syndrome": "ORPHA:1275", "Liebenberg syndrome": "ORPHA:1275", "OBSOLETE: Herpes simplex virus keratitis": "ORPHA:137586", "OBSOLETE: HSV keratitis": "ORPHA:137586", "OBSOLETE: Herpetic keratitis": "ORPHA:137586", "Dermato-cardio-skeletal syndrome, Borrone type": "ORPHA:1266", "Bowen syndrome": "ORPHA:1271", "Bowen-Conradi syndrome": "ORPHA:1270", "Bowen syndrome, Hutterite type": "ORPHA:1270", "Legius syndrome": "ORPHA:137605", "NF1-like syndrome": "ORPHA:137605", "Neurofibromatosis 1-like syndrome": "ORPHA:137605", "Nonmosaic LGSS": "ORPHA:137605", "Nonmosaic Legius syndrome": "ORPHA:137605", "Infectious epithelial keratitis": "ORPHA:137593", "Neurotrophic keratopathy": "ORPHA:137596", "Neurotrophic keratitis": "ORPHA:137596", "Brachydactyly-preaxial hallux varus syndrome": "ORPHA:1278", "Herpes simplex virus stromal keratitis": "ORPHA:137599", "Corneal endotheliitis": "ORPHA:137602", "Congenital unilateral hypoplasia of depressor anguli oris": "ORPHA:1166", "Isolated asymmetric crying facies": "ORPHA:1166", "Ataxia-oculomotor apraxia type 1": "ORPHA:1168", "AOA1": "ORPHA:1168", "Extrapelvic endometriosis": "ORPHA:137820", "Endometriosis outside pelvis": "ORPHA:137820", "Chylous ascites": "ORPHA:1160", "Arachnoiditis": "ORPHA:137817", "Adhesive arachnoiditis": "ORPHA:137817", "Chronic arachnoiditis": "ORPHA:137817", "Macular amyloidosis": "ORPHA:137814", "Cerebellar ataxia-ectodermal dysplasia syndrome": "ORPHA:1174", "Lemierre syndrome": "ORPHA:137839", "Lemierre postanginal sepsis": "ORPHA:137839", "Postanginal sepsis secondary to orophyngeal infection": "ORPHA:137839", "Septic phlebitis of the internal jugular vein": "ORPHA:137839", "Frank-Ter Haar syndrome": "ORPHA:137834", "Ter Haar syndrome": "ORPHA:137834", "X-linked intellectual disability-cerebellar hypoplasia syndrome": "ORPHA:137831", "OPHN1 syndrome": "ORPHA:137831", "Oligophrenin-1 syndrome": "ORPHA:137831", "Autosomal recessive cerebelloparenchymal disorder type 3": "ORPHA:1170", "Autosomal recessive spinocerebellar ataxia type 2": "ORPHA:1170", "SCAR2": "ORPHA:1170", "Mart\u00ednez-Fr\u00edas syndrome": "ORPHA:137862", "Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome": "ORPHA:137862", "Ataxia-tapetoretinal degeneration syndrome": "ORPHA:1178", "X-linked progressive cerebellar ataxia": "ORPHA:1175", "Ataxia-hypogonadism-choroidal dystrophy syndrome": "ORPHA:1180", "Boucher-Neuh\u00e4user syndrome": "ORPHA:1180", "OBSOLETE: Laminopathy type Decaudain-Vigouroux": "ORPHA:137871", "OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy": "ORPHA:137871", "Benign paroxysmal tonic upgaze of childhood with ataxia": "ORPHA:1179", "Ouvrier-Billson syndrome": "ORPHA:1179", "Cerebellar ataxia-hypogonadism syndrome": "ORPHA:1173", "Gordon-Holmes syndrome": "ORPHA:1173", "Luteinizing hormone-releasing hormone deficiency with ataxia": "ORPHA:1173", "Madras motor neuron disease": "ORPHA:137867", "MMND": "ORPHA:137867", "OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome": "ORPHA:1139", "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1": "ORPHA:137681", "Hepatoencephalopathy due to COXPD1": "ORPHA:137681", "OBSOLETE: Pulmonary aortic stenosis obstructive uropathy": "ORPHA:1137", "OBSOLETE: Kashani-Strom-Utley syndrome": "ORPHA:1137", "AREDYLD syndrome": "ORPHA:1133", "Acrorenal defect-ectodermal dysplasia-diabetes syndrome": "ORPHA:1133", "Histiocytoid cardiomyopathy": "ORPHA:137675", "Foamy myocardial transformation of infancy": "ORPHA:137675", "Infantile cardiomyopathy with histiocytoid change": "ORPHA:137675", "Infantile xanthomatous cardiomyopathy": "ORPHA:137675", "Oncocytic cardiomyopathy": "ORPHA:137675", "X-linked mandibulofacial dysostosis": "ORPHA:1131", "Mandibulofacial dysostosis, Toriello type": "ORPHA:1131", "X-linked branchial arch syndrome": "ORPHA:1131", "X-linked mandibulofacial dysostosis with limb anomalies": "ORPHA:1131", "Spondyloepiphyseal dysplasia with metatarsal shortening": "ORPHA:137678", "Czech dysplasia, metatarsal type": "ORPHA:137678", "SED with metatarsal shortening": "ORPHA:137678", "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk": "ORPHA:137698", "CMV disease in patients with impaired cell mediated immunity deemed at risk": "ORPHA:137698", "Aminoacylase 1 deficiency": "ORPHA:137754", "ACY1D": "ORPHA:137754", "N-acyl-L-amino acid amidohydrolase deficiency": "ORPHA:137754", "N-acyl-aliphatic-L-amino acid amidohydrolase deficiency": "ORPHA:137754", "Infantile-onset X-linked spinal muscular atrophy": "ORPHA:1145", "SMAX2": "ORPHA:1145", "Spinal muscular atrophy with arthrogryposis": "ORPHA:1145", "X-linked distal arthrogryposis multiplex congenita": "ORPHA:1145", "X-linked spinal muscular atrophy type 2": "ORPHA:1145", "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome": "ORPHA:1144", "Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome": "ORPHA:1144", "Distal arthrogryposis type 6": "ORPHA:1144", "Asherman syndrome": "ORPHA:137686", "OBSOLETE: Transient neonatal arthrogryposis": "ORPHA:1153", "Lethal congenital contracture syndrome type 2": "ORPHA:137776", "LCCS2": "ORPHA:137776", "Multiple contracture syndrome, Israeli-Bedouin type": "ORPHA:137776", "Arthrogryposis multiplex congenita-whistling face syndrome": "ORPHA:1150", "Illum syndrome": "ORPHA:1150", "Kuskokwim syndrome": "ORPHA:1149", "Arthrogryposis-like syndrome": "ORPHA:1149", "Kuskokwim disease": "ORPHA:1149", "Primary cutaneous amyloidosis": "ORPHA:137807", "PLCA": "ORPHA:137807", "Primary localized cutaneous amyloidosis": "ORPHA:137807", "Progressive pseudorheumatoid dysplasia": "ORPHA:1159", "PPD": "ORPHA:1159", "Progressive pseudorheumatoid arthropathy of childhood": "ORPHA:1159", "Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome": "ORPHA:1159", "Nodular cutaneous amyloidosis": "ORPHA:137810", "PLCNA": "ORPHA:137810", "Primary localized cutaneous nodular amyloidosis": "ORPHA:137810", "Lethal congenital contracture syndrome type 3": "ORPHA:137783", "LCCS3": "ORPHA:137783", "OBSOLETE: Atrichia-intellectual disability and growth delay syndrome": "ORPHA:1211", "Progressive hemifacial atrophy": "ORPHA:1214", "Hemifacial atrophy": "ORPHA:1214", "PHA": "ORPHA:1214", "Parry-Romberg syndrome": "ORPHA:1214", "Progressive facial hemiatrophy": "ORPHA:1214", "Romberg syndrome": "ORPHA:1214", "Autosomal dominant optic atrophy plus syndrome": "ORPHA:1215", "ADOA+": "ORPHA:1215", "DOA+": "ORPHA:1215", "Optic atrophy-deafness-polyneuropathy-myopathy syndrome": "ORPHA:1215", "Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome": "ORPHA:1215", "Pierre Robin syndrome associated with collagen disease": "ORPHA:138041", "Pierre Robin sequence associated with collagen disease": "ORPHA:138041", "Autosomal dominant congenital benign spinal muscular atrophy": "ORPHA:1216", "Autosomal dominant benign distal spinal muscular atrophy": "ORPHA:1216", "Congenital benign spinal muscular atrophy with contractures": "ORPHA:1216", "Congenital nonprogressive spinal muscular atrophy": "ORPHA:1216", "Pierre Robin syndrome associated with a chromosomal anomaly": "ORPHA:138047", "Pierre Robin sequence associated with a chromosomal anomaly": "ORPHA:138047", "Rare disease with Pierre Robin syndrome": "ORPHA:138044", "Aurocephalosyndactyly": "ORPHA:1219", "Auralcephalosyndactyly": "ORPHA:1219", "Kurczynski-Casperson syndrome": "ORPHA:1219", "Pierre Robin syndrome associated with bone disease": "ORPHA:138055", "Pierre Robin sequence associated with bone disease": "ORPHA:138055", "Cheilitis glandularis": "ORPHA:1221", "Pierre Robin syndrome associated with branchial archs anomalies": "ORPHA:138050", "Pierre Robin sequence associated with branchial archs anomalies": "ORPHA:138050", "OBSOLETE: Syndrome associated with Pierre Robin syndrome": "ORPHA:138063", "OBSOLETE: Syndrome associated with Pierre Robin sequence": "ORPHA:138063", "Teratogenic Pierre Robin syndrome": "ORPHA:138059", "Teratogenic Pierre Robin sequence": "ORPHA:138059", "Baller-Gerold syndrome": "ORPHA:1225", "OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome": "ORPHA:138069", "OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence": "ORPHA:138069", "Bamforth-Lazarus syndrome": "ORPHA:1226", "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome": "ORPHA:1226", "Bamforth syndrome": "ORPHA:1226", "Hypothyroidism-cleft palate syndrome": "ORPHA:1226", "OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies": "ORPHA:138066", "OBSOLETE: Pierre Robin sequence associated with miscellaneous anomalies": "ORPHA:138066", "Bangstad syndrome": "ORPHA:1227", "Ataxia-diabetes-goiter-gonadal insufficiency syndrome": "ORPHA:1227", "Ataxia-photosensitivity-short stature syndrome": "ORPHA:1184", "Fenton-Wilkinson-Toselano syndrome": "ORPHA:1184", "Spastic ataxia with congenital miosis": "ORPHA:1182", "Autosomal dominant spastic ataxia type 7": "ORPHA:1182", "SPAX7": "ORPHA:1182", "Auriculocondylar syndrome": "ORPHA:137888", "Question mark ear syndrome": "ORPHA:137888", "Male infertility due to large-headed multiflagellar polyploid spermatozoa": "ORPHA:137893", "Macrocephalic sperm head syndrome": "ORPHA:137893", "Male infertility due to macrozoospermia": "ORPHA:137893", "Infantile-onset spinocerebellar ataxia": "ORPHA:1186", "IOSCA": "ORPHA:1186", "Ohaha syndrome": "ORPHA:1186", "Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome": "ORPHA:1186", "Spinocerebellar ataxia-dysmorphism syndrome": "ORPHA:1185", "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome": "ORPHA:137898", "LBSL": "ORPHA:137898", "Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome": "ORPHA:137898", "Ataxia-deafness-intellectual disability syndrome": "ORPHA:1188", "Ataxia-hearing loss-intellectual disability syndrome": "ORPHA:1188", "Reardon-Baraitser syndrome": "ORPHA:1188", "OBSOLETE: Isolated optic nerve hypoplasia/aplasia": "ORPHA:137902", "Syndromic optic nerve hypoplasia": "ORPHA:137905", "Lethal ataxia with deafness and optic atrophy": "ORPHA:1187", "Arts syndrome": "ORPHA:1187", "Lethal ataxia with hearing loss and optic atrophy": "ORPHA:1187", "Atelosteogenesis type I": "ORPHA:1190", "AO1": "ORPHA:1190", "AOI": "ORPHA:1190", "Atelosteogenesis type 1": "ORPHA:1190", "Giant cell chondrodysplasia": "ORPHA:1190", "Spondylo-humero-femoral dysplasia": "ORPHA:1190", "Hypotonia with lactic acidemia and hyperammonemia": "ORPHA:137908", "COXPD5": "ORPHA:137908", "Combined oxidative phosphorylation defect type 5": "ORPHA:137908", "Autism-facial port-wine stain syndrome": "ORPHA:137911", "Choanal atresia": "ORPHA:137914", "Atkin-Flaitz syndrome": "ORPHA:1193", "X-linked intellectual disability, Atkin type": "ORPHA:1193", "Choanal atresia, unilateral": "ORPHA:137917", "Burn-McKeown syndrome": "ORPHA:1200", "Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome": "ORPHA:1200", "Choanal atresia, bilateral": "ORPHA:137920", "OBSOLETE: Cervicofacial lymphatic malformation": "ORPHA:137923", "Colonic atresia": "ORPHA:1198", "Primary laryngeal lymphangioma": "ORPHA:137926", "Neonatal brainstem dysfunction": "ORPHA:137929", "Duodenal atresia": "ORPHA:1203", "Pulmonary atresia-intact ventricular septum syndrome": "ORPHA:1208", "Congenital laryngeal palsy": "ORPHA:137932", "Congenital vocal cord paralysis": "ORPHA:137932", "Airway infantile hemangioma": "ORPHA:137935", "Laryngotracheal angioma": "ORPHA:137935", "Ring chromosome 7 syndrome": "ORPHA:1449", "Ring 7": "ORPHA:1449", "Ring chromosome 7": "ORPHA:1449", "Paramedian nasal cleft": "ORPHA:141242", "Alar cleft": "ORPHA:141242", "Alar rim cleft": "ORPHA:141242", "Cleft nose": "ORPHA:141242", "Isolated cleft of the ala nasi": "ORPHA:141242", "Isolated coloboma of the nose": "ORPHA:141242", "Tessier number 1 cleft": "ORPHA:141242", "Cleidorhizomelic syndrome": "ORPHA:1453", "Rhizomelic shortness with clavicular defect": "ORPHA:1453", "Wallis-Zieff-Goldblatt syndrome": "ORPHA:1453", "Median cleft of the upper lip and maxilla": "ORPHA:141239", "Ring chromosome 14 syndrome": "ORPHA:1440", "Ring 14": "ORPHA:1440", "Ring chromosome 14": "ORPHA:1440", "Median facial cleft": "ORPHA:141234", "Midline facial cleft": "ORPHA:141234", "Tessier number 0-14 and 30 facial cleft": "ORPHA:141234", "Ring chromosome 19 syndrome": "ORPHA:1443", "Ring 19": "ORPHA:1443", "Ring chromosome 19": "ORPHA:1443", "Facial cleft": "ORPHA:141229", "Craniofacial cleft": "ORPHA:141229", "Tessier number 5 facial cleft": "ORPHA:141261", "Tessier number 4 facial cleft": "ORPHA:141258", "CODAS syndrome": "ORPHA:1458", "Cerebrooculodentoauriculoskeletal syndrome": "ORPHA:1458", "Oblique facial cleft": "ORPHA:141253", "Orbitofacial cleft": "ORPHA:141253", "Joubert syndrome with hepatic defect": "ORPHA:1454", "COACH syndrome": "ORPHA:1454", "Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis": "ORPHA:1454", "Gentile syndrome": "ORPHA:1454", "JS-H": "ORPHA:1454", "Joubert syndrome with congenital hepatic fibrosis": "ORPHA:1454", "Coats disease": "ORPHA:190", "Congenital retinal telangiectasia": "ORPHA:190", "Leber miliary aneurysm": "ORPHA:190", "Cerebrofacial arteriovenous metameric syndrome type 3": "ORPHA:141199", "CAMS3": "ORPHA:141199", "Benign hereditary chorea": "ORPHA:1429", "BHC": "ORPHA:1429", "Benign familial chorea": "ORPHA:1429", "Cerebrofacial arteriovenous metameric syndrome type 1": "ORPHA:141194", "CAMS1": "ORPHA:141194", "Cerebrofacial arteriovenous metameric syndrome": "ORPHA:141189", "CAMS": "ORPHA:141189", "Greenberg dysplasia": "ORPHA:1426", "HEM dysplasia": "ORPHA:1426", "Hydrops-ectopic calcification-motheaten syndrome": "ORPHA:1426", "Skeletal dysplasia, Greenberg type": "ORPHA:1426", "Rapidly involuting congenital hemangioma": "ORPHA:141184", "RICH": "ORPHA:141184", "Autosomal recessive otospondylomegaepiphyseal dysplasia": "ORPHA:1427", "OSMED": "ORPHA:1427", "Xq21 microdeletion syndrome": "ORPHA:1435", "Ayazi syndrome": "ORPHA:1435", "Del(X)(q21)": "ORPHA:1435", "Monosomy Xq21": "ORPHA:1435", "Nasal dorsum fistula": "ORPHA:141219", "X-linked skeletal dysplasia-intellectual disability syndrome": "ORPHA:1436", "Christian syndrome": "ORPHA:1436", "Isolated congenital syngnathia": "ORPHA:141214", "Isolated congenital maxillomandibular fusion": "ORPHA:141214", "Diffuse lymphatic malformation": "ORPHA:141209", "Diffuse lymphangioma": "ORPHA:141209", "Diffuse lymphangiomatosis": "ORPHA:141209", "Disseminated lymphangioma": "ORPHA:141209", "Disseminated lymphangiomatosis": "ORPHA:141209", "Disseminated lymphatic malformation": "ORPHA:141209", "GLA": "ORPHA:141209", "Generalized lymphatic anomaly": "ORPHA:141209", "Autosomal dominant chorioretinopathy-microcephaly syndrome": "ORPHA:1432", "Choroidal atrophy-alopecia syndrome": "ORPHA:1433", "Moloney syndrome": "ORPHA:1433", "Regional choroidal atrophy and alopecia": "ORPHA:1433", "Rare head and neck malformation": "ORPHA:155832", "Contractures-ectodermal dysplasia-cleft lip/palate syndrome": "ORPHA:1484", "Ladda-Zonana-Ramer syndrome": "ORPHA:1484", "Cysts and fistulae of the face and oral cavity": "ORPHA:155835", "Biemond syndrome type 2": "ORPHA:141333", "Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome": "ORPHA:141333", "Submucosal cleft palate": "ORPHA:155878", "Corneal dystrophy-perceptive deafness syndrome": "ORPHA:1490", "CDPD": "ORPHA:1490", "Corneal dystrophy with progressive deafness": "ORPHA:1490", "Corneal dystrophy with progressive hearing loss": "ORPHA:1490", "Corneal dystrophy-perceptive hearing loss syndrome": "ORPHA:1490", "Harboyan syndrome": "ORPHA:1490", "Cooks syndrome": "ORPHA:1487", "Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome": "ORPHA:1487", "ODP": "ORPHA:1487", "Pinnae fistula or cyst": "ORPHA:155838", "Paramedian facial cleft": "ORPHA:155867", "Tessier number 1-1 and 2-12 facial cleft": "ORPHA:155867", "Lethal congenital contracture syndrome type 1": "ORPHA:1486", "Herva disease": "ORPHA:1486", "LCCS1": "ORPHA:1486", "Multiple contracture syndrome, Finnish type": "ORPHA:1486", "Tessier number 7 facial cleft": "ORPHA:141276", "Commissural facial cleft": "ORPHA:141276", "Transverse facial cleft": "ORPHA:141276", "Tessier number 6 facial cleft": "ORPHA:141265", "COFS syndrome": "ORPHA:1466", "Cerebrooculofacioskeletal syndrome": "ORPHA:1466", "Pena-Shokeir syndrome type 2": "ORPHA:1466", "Lateral facial cleft": "ORPHA:141269", "OBSOLETE: Orofaciodigital syndrome type 12": "ORPHA:141327", "OBSOLETE: Moran-Barroso syndrome": "ORPHA:141327", "OBSOLETE: OFD12": "ORPHA:141327", "OBSOLETE: Oral-facial-digital syndrome type 12": "ORPHA:141327", "OBSOLETE: Orofaciodigital syndrome type 13": "ORPHA:141330", "OBSOLETE: Degner syndrome": "ORPHA:141330", "OBSOLETE: OFD13": "ORPHA:141330", "OBSOLETE: Oral-facial-digital syndrome type 13": "ORPHA:141330", "Coloboma of macula-brachydactyly type B syndrome": "ORPHA:1471", "Sorsby syndrome": "ORPHA:1471", "Midline cervical cleft": "ORPHA:141288", "Cleft lip and alveolus": "ORPHA:141291", "Polyrrhinia": "ORPHA:141091", "Double nose": "ORPHA:141091", "Polyrhinia": "ORPHA:141091", "Hair defect-photosensitivity-intellectual disability syndrome": "ORPHA:1408", "Calder\u00f3n-Gonz\u00e1lez-Cantu syndrome": "ORPHA:1408", "Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome": "ORPHA:1409", "Salamon syndrome": "ORPHA:1409", "Nasolacrimal duct cyst": "ORPHA:141083", "Dacryocele": "ORPHA:141083", "Dacryocystocele": "ORPHA:141083", "Nasolacrimal mucocele": "ORPHA:141083", "Uncombable hair syndrome": "ORPHA:1410", "Pili trianguli et canaliculi": "ORPHA:1410", "Proboscis lateralis": "ORPHA:141099", "Congenital tubular nose": "ORPHA:141099", "Supernumerary nostril": "ORPHA:141096", "Accessory nostril": "ORPHA:141096", "Tarsal-carpal coalition syndrome": "ORPHA:1412", "Nasopharyngeal teratoma": "ORPHA:141107", "Teratoma of the nasopharynx": "ORPHA:141107", "Nasal dermoid cyst": "ORPHA:141103", "Nasal dermoid sinus cyst": "ORPHA:141103", "Nasal ganglioglioma": "ORPHA:141115", "Familial calcium pyrophosphate deposition": "ORPHA:1416", "Calcium pyrophosphate dihydrate crystal deposition disease": "ORPHA:1416", "Familial CC": "ORPHA:1416", "Familial CPPD": "ORPHA:1416", "Familial articular chondrocalcinosis": "ORPHA:1416", "Hereditary CC": "ORPHA:1416", "Hereditary articular chondrocalcinosis": "ORPHA:1416", "Hereditary calcium pyrophosphate deposition": "ORPHA:1416", "Nasal glial heterotopia": "ORPHA:141112", "Nasal glioma": "ORPHA:141112", "Cerebrofaciothoracic dysplasia": "ORPHA:1394", "Pascual-Castroviejo syndrome type 1": "ORPHA:1394", "Facial dermoid cyst": "ORPHA:141051", "Dermoid cyst of the face": "ORPHA:141051", "Isolated lower lip fistula": "ORPHA:141064", "Isolated lower lip pits": "ORPHA:141064", "Non-syndromic familial congenital lower lip pits": "ORPHA:141064", "OBSOLETE: Cerebrorenodigital syndrome": "ORPHA:1396", "Commissural lip fistula": "ORPHA:141061", "Digestive duplication cyst of the tongue": "ORPHA:141071", "Enteric duplication cyst of the tongue": "ORPHA:141071", "Foregut duplication cyst of the tongue": "ORPHA:141071", "Gastric duplication cyst of the tongue": "ORPHA:141071", "Hydrocephaly-cerebellar agenesis syndrome": "ORPHA:1397", "Cervicofacial fibrochondroma": "ORPHA:141067", "Isolated cerebellar agenesis": "ORPHA:1398", "Near total absence of cerebellum": "ORPHA:1398", "Subtotal absence of cerebellum": "ORPHA:1398", "Richards-Rundle syndrome": "ORPHA:1399", "Ketoaciduria-intellectual disability-ataxia-deafness syndrome": "ORPHA:1399", "Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome": "ORPHA:1399", "Epignathus": "ORPHA:141077", "Oropharyngeal teratoma": "ORPHA:141077", "CHAND syndrome": "ORPHA:1401", "Baughman syndrome": "ORPHA:1401", "CHANDS": "ORPHA:1401", "Curly hair-ankyloblepharon-nail dysplasia syndrome": "ORPHA:1401", "External auditory canal aplasia/hypoplasia": "ORPHA:141074", "External auditory canal stenosis/atresia": "ORPHA:141074", "Isolated congenital hypoglossia/aglossia": "ORPHA:141152", "Metaphyseal chondrodysplasia, Schmid type": "ORPHA:174", "Glossopalatine ankylosis": "ORPHA:141163", "Cosack syndrome": "ORPHA:141163", "Frontonasal arteriovenous malformation": "ORPHA:141168", "Maxillary arteriovenous malformation": "ORPHA:141171", "Arteriovenous malformation of maxilla": "ORPHA:141171", "Desbuquois syndrome": "ORPHA:1425", "DBQD": "ORPHA:1425", "Desbuquois dysplasia": "ORPHA:1425", "Mandibular arteriovenous malformation": "ORPHA:141174", "Arteriovenous malformation of mandible": "ORPHA:141174", "Non-involuting congenital hemangioma": "ORPHA:141179", "NICH": "ORPHA:141179", "Nasal encephalocele": "ORPHA:141118", "OBSOLETE: Lethal chondrodysplasia, Moerman type": "ORPHA:1420", "OBSOLETE: Moerman-Vandenberghe-Fryns syndrome": "ORPHA:1420", "Congenital subglottic stenosis": "ORPHA:141121", "Congenital laryngeal cyst": "ORPHA:141124", "OBSOLETE: Lethal chondrodysplasia, Seller type": "ORPHA:1421", "Congenital tracheal stenosis": "ORPHA:141127", "Oculo-auriculo-vertebral spectrum": "ORPHA:141132", "OAV spectrum": "ORPHA:141132", "Oculoauriculovertebral spectrum": "ORPHA:141132", "Otomandibular syndrome": "ORPHA:141136", "First branchial arch syndrome": "ORPHA:141136", "Hemifacial microsomia": "ORPHA:141136", "Laterofacial microsomia": "ORPHA:141136", "Otomandibular dysostosis": "ORPHA:141136", "Hemifacial hyperplasia": "ORPHA:141145", "Hemifacial hypertrophy": "ORPHA:141145", "Hemifacial myohyperplasia": "ORPHA:141148", "Spondyloepimetaphyseal dysplasia, matrilin-3 type": "ORPHA:156728", "SEMD, MATN3-related": "ORPHA:156728", "SEMD, matrilin-3 type": "ORPHA:156728", "Cataract-hypertrichosis-intellectual disability syndrome": "ORPHA:1375", "CAHMR syndrome": "ORPHA:1375", "Piepkorn dysplasia": "ORPHA:156723", "Short ribs-craniosynostosis-polysyndactyly syndrome": "ORPHA:156723", "OBSOLETE: Congenital cataract-ichthyosis syndrome": "ORPHA:1376", "Hereditary hyperferritinemia-cataract syndrome": "ORPHA:163", "HHCS": "ORPHA:163", "Hereditary hyperferritinemia with cataracts": "ORPHA:163", "Hereditary hyperferritinemia-cataract disease": "ORPHA:163", "Genetic endocrine growth disease": "ORPHA:156643", "Rare genetic endocrine disease": "ORPHA:156638", "Rare genetic cause of hypertension": "ORPHA:156629", "Cataract-aberrant oral frenula-growth delay syndrome": "ORPHA:1373", "Wellesley-Carman-French syndrome": "ORPHA:1373", "Genetic urogenital tract malformation": "ORPHA:156622", "Rare genetic urogenital disease": "ORPHA:156619", "Cataract-ataxia-deafness syndrome": "ORPHA:1368", "Cataract-ataxia-hearing loss syndrome": "ORPHA:1368", "Rare genetic respiratory disease": "ORPHA:156610", "Autosomal recessive palmoplantar keratoderma and congenital alopecia": "ORPHA:1366", "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia": "ORPHA:1366", "Cataract-alopecia-sclerodactyly syndrome": "ORPHA:1366", "PPK-CA, Wallis type": "ORPHA:1366", "Palmoplantar keratoderma and congenital alopecia, Wallis type": "ORPHA:1366", "Genetic biliary tract disease": "ORPHA:156607", "Genetic parenchymatous liver disease": "ORPHA:156604", "Rare genetic hepatic disease": "ORPHA:156601", "Rare syndrome with cardiac malformations": "ORPHA:156532", "Tracheal anomaly": "ORPHA:156252", "Carnosinase deficiency": "ORPHA:1361", "Cerebrocostomandibular syndrome": "ORPHA:1393", "Kl\u00fcver-Bucy syndrome": "ORPHA:157823", "Congenital epulis": "ORPHA:157826", "Congenital gingival cell tumor": "ORPHA:157826", "Congenital granular cell tumor": "ORPHA:157826", "Neumann tumor": "ORPHA:157826", "Isolated pseudoarthrosis of the limbs": "ORPHA:157808", "Congenital pseudoarthrosis of the limbs": "ORPHA:157808", "Isolated congenital pseudarthrosis of the limbs": "ORPHA:157808", "Night blindness-skeletal anomalies-dysmorphism syndrome": "ORPHA:1390", "Hunter-Thompson-Reed syndrome": "ORPHA:1390", "Cold-induced sweating syndrome": "ORPHA:157820", "CISS": "ORPHA:157820", "Cortical blindness-intellectual disability-polydactyly syndrome": "ORPHA:1389", "Serrated polyposis syndrome": "ORPHA:157798", "Hyperplastic polyposis syndrome": "ORPHA:157798", "Catel-Manzke syndrome": "ORPHA:1388", "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome": "ORPHA:1388", "Index finger anomaly-Pierre Robin syndrome": "ORPHA:1388", "Micrognathia digital syndrome": "ORPHA:1388", "Palatodigital syndrome, Catel-Manzke type": "ORPHA:1388", "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome": "ORPHA:1388", "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome": "ORPHA:1388", "Mesoaxial synostotic syndactyly with phalangeal reduction": "ORPHA:157801", "MSSD": "ORPHA:157801", "Syndactyly type 9": "ORPHA:157801", "Syndactyly, Malik-Percin type": "ORPHA:157801", "Cataract-intellectual disability-hypogonadism syndrome": "ORPHA:1387", "Martsolf syndrome": "ORPHA:1387", "Epithelioid hemangioendothelioma": "ORPHA:157791", "Hereditary mixed polyposis syndrome": "ORPHA:157794", "HMPS": "ORPHA:157794", "Situs ambiguus": "ORPHA:157769", "Incomplete situs inversus": "ORPHA:157769", "Partial situs inversus": "ORPHA:157769", "Situs ambiguous": "ORPHA:157769", "Hypospadias-hypertelorism-coloboma and deafness syndrome": "ORPHA:157788", "Hypospadias-hypertelorism-coloboma and hearing loss syndrome": "ORPHA:157788", "Late infantile CACH syndrome": "ORPHA:157716", "Cataract-intellectual disability-anal atresia-urinary defects syndrome": "ORPHA:1381", "Karandikar-Maria-Kamble syndrome": "ORPHA:1381", "Juvenile or adult CACH syndrome": "ORPHA:157719", "Cataract-nephropathy-encephalopathy syndrome": "ORPHA:1380", "Crome syndrome": "ORPHA:1380", "Congenital or early infantile CACH syndrome": "ORPHA:157713", "Dyssegmental dysplasia, Rolland-Desbuquois type": "ORPHA:156731", "Cataract-microcornea syndrome": "ORPHA:1377", "Hereditary hypophosphatemic rickets with hypercalciuria": "ORPHA:157215", "HHRH": "ORPHA:157215", "Camptodactyly-taurinuria syndrome": "ORPHA:1325", "Familial streblodactyly with amino-aciduria": "ORPHA:1325", "Isolated dystonia": "ORPHA:156159", "Pure dystonia": "ORPHA:156159", "Camptodactyly syndrome, Guadalajara type 2": "ORPHA:1326", "Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy": "ORPHA:156156", "Retinal ciliopathy": "ORPHA:156165", "Camptodactyly syndrome, Guadalajara type 1": "ORPHA:1327", "Renal ciliopathy": "ORPHA:156162", "Camurati-Engelmann disease": "ORPHA:1328", "Progressive diaphyseal dysplasia": "ORPHA:1328", "Predominantly small-vessel vasculitis": "ORPHA:156146", "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome": "ORPHA:1321", "Goodman camptodactyly": "ORPHA:1321", "Predominantly medium-vessel vasculitis": "ORPHA:156143", "Camptodactyly-joint contractures-facial skeletal defects syndrome": "ORPHA:1323", "Rozin camptodactyly syndrome": "ORPHA:1323", "Anti-neutrophil cytoplasmic antibody-associated vasculitis": "ORPHA:156152", "AAV": "ORPHA:156152", "ANCA-associated vasculitis": "ORPHA:156152", "Antineutrophil cytoplasmic antibody-associated vasculitis": "ORPHA:156152", "Immune complex mediated vasculitis": "ORPHA:156149", "Symmetrical thalamic calcifications": "ORPHA:1314", "Bilateral symmetrical thalamic gliosis": "ORPHA:1314", "OBSOLETE: Keratoconus": "ORPHA:156071", "Primary early-onset glaucoma": "ORPHA:156005", "CAMFAK syndrome": "ORPHA:1317", "CAMAK syndrome": "ORPHA:1317", "Cataract-microcephaly-arthrogryposis-kyphosis syndrome": "ORPHA:1317", "Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome": "ORPHA:1317", "Predominantly large-vessel vasculitis": "ORPHA:156140", "Campomelia, Cumming type": "ORPHA:1318", "Cumming syndrome": "ORPHA:1318", "Camptobrachydactyly": "ORPHA:1319", "Coloboma of inferior eyelid": "ORPHA:155889", "Inferior palpebral coloboma": "ORPHA:155889", "Feingold syndrome": "ORPHA:1305", "Brunner-Winter syndrome": "ORPHA:1305", "Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum": "ORPHA:1305", "FGLDS": "ORPHA:1305", "FS": "ORPHA:1305", "MMT": "ORPHA:1305", "MODED syndrome": "ORPHA:1305", "Microcephaly-digital anomalies-normal intelligence syndrome": "ORPHA:1305", "Microcephaly-intellectual disability-tracheoesophageal fistula syndrome": "ORPHA:1305", "Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome": "ORPHA:1305", "ODED syndrome": "ORPHA:1305", "Oculo-digito-esophageal-duodenal syndrome": "ORPHA:1305", "Distal limb deficiencies-micrognathia syndrome": "ORPHA:1307", "10q24 microduplication syndrome": "ORPHA:1307", "Buttiens-Fryns syndrome": "ORPHA:1307", "Coloboma of superior eyelid": "ORPHA:155884", "Superior palpebral coloboma": "ORPHA:155884", "Mandibulofacial dysostosis": "ORPHA:155899", "Bilateral and symmetric oto-mandibular dysplasia": "ORPHA:155899", "Otomandibular dysplasia": "ORPHA:155896", "Infantile choroidocerebral calcification syndrome": "ORPHA:1313", "Syndrome or malformation associated with head and neck malformations": "ORPHA:156237", "Heart-hand syndrome type 2": "ORPHA:1350", "Atriodigital dysplasia type 2": "ORPHA:1350", "Tabatznik syndrome": "ORPHA:1350", "Pinnae and external auditory canal anomaly": "ORPHA:156243", "Nose and cavum anomaly": "ORPHA:156246", "Congenital heart defect-round face-developmental delay syndrome": "ORPHA:1355", "Sonoda syndrome": "ORPHA:1355", "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome": "ORPHA:1352", "Houlston-Ironton-Temple syndrome": "ORPHA:1352", "Larynx anomaly": "ORPHA:156249", "Hypoglossia/aglossia": "ORPHA:156212", "Heart-hand syndrome type 3": "ORPHA:1342", "Atriodigital dysplasia type 3": "ORPHA:1342", "Cardiomelic syndrome type 3": "ORPHA:1342", "Heart-hand syndrome, Spanish type": "ORPHA:1342", "Heart-limb syndrome type 3": "ORPHA:1342", "Oromandibular-limb anomalies syndrome": "ORPHA:156215", "Paralytic facial malformation": "ORPHA:156224", "Cardiomyopathy-cataract-hip spine disease syndrome": "ORPHA:1345", "Krasnow-Qazi syndrome": "ORPHA:1345", "Facial arteriovenous malformation": "ORPHA:156230", "Retinal ciliopathy due to mutation in nephronophthisis gene": "ORPHA:156180", "Heart defect-tongue hamartoma-polysyndactyly syndrome": "ORPHA:1338", "Ostravik-Lindemann-Solberg syndrome": "ORPHA:1338", "Retinal ciliopathy due to mutation in Bardet-Biedl gene": "ORPHA:156183", "Otomandibular dysplasia associated with monogenic syndromes": "ORPHA:156202", "Cardiofaciocutaneous syndrome": "ORPHA:1340", "CFC syndrome": "ORPHA:1340", "OBSOLETE: Cranioacrofacial syndrome": "ORPHA:1339", "OBSOLETE: Grosse syndrome": "ORPHA:1339", "Macroglossia": "ORPHA:156207", "Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene": "ORPHA:156168", "Retinal ciliopathy due to mutation in RP1 gene": "ORPHA:156168", "Persistent M\u00fcllerian duct syndrome": "ORPHA:2856", "PMDS": "ORPHA:2856", "Persistent M\u00fcllerian derivatives": "ORPHA:2856", "Retinal ciliopathy due to mutation in the RPGR gene": "ORPHA:156171", "Retinal ciliopathy due to mutation in the RPGRIP gene": "ORPHA:156174", "Hyperkeratosis-hyperpigmentation syndrome": "ORPHA:1336", "Retinal ciliopathy due to mutation in Usher gene": "ORPHA:156177", "Pentalogy of Cantrell": "ORPHA:1335", "Cantrell deformity": "ORPHA:1335", "Cantrell syndrome": "ORPHA:1335", "Thoraco-abdominal syndrome": "ORPHA:1335", "Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome": "ORPHA:1683", "Arterial dissection-lentiginosis syndrome": "ORPHA:1682", "OBSOLETE: Spastic diplegia, infantile type": "ORPHA:1680", "OBSOLETE: Little syndrome": "ORPHA:1680", "Dincsoy-Salih-Patel syndrome": "ORPHA:1678", "Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome": "ORPHA:1678", "Fibular dimelia-diplopodia syndrome": "ORPHA:1757", "Leg duplication-mirror foot syndrome": "ORPHA:1757", "Caudal duplication": "ORPHA:1756", "Dipygus": "ORPHA:1756", "Split notochord syndrome": "ORPHA:1756", "Familial progressive vestibulocochlear dysfunction": "ORPHA:1767", "OBSOLETE: Dyschondrosteosis-nephritis syndrome": "ORPHA:1765", "Inherited cancer-predisposing syndrome": "ORPHA:140162", "Dysequilibrium syndrome": "ORPHA:1766", "CAMRQ syndrome": "ORPHA:1766", "Cerebellar ataxia-intellectual disability-dysequilibrium syndrome": "ORPHA:1766", "Non-progressive cerebellar ataxia-intellectual disability syndrome": "ORPHA:1766", "UTS": "ORPHA:1766", "Uner Tan syndrome": "ORPHA:1766", "Temtamy syndrome": "ORPHA:1777", "Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome": "ORPHA:1777", "Temtamy-Shalash syndrome": "ORPHA:1777", "Thakker-Donnai syndrome": "ORPHA:1780", "Dysmorphism-multiple structural anomalies syndrome": "ORPHA:1780", "45,X/46,XY mixed gonadal dysgenesis": "ORPHA:1772", "45,X/46,XY MGD": "ORPHA:1772", "45,X0/46,XY MGD": "ORPHA:1772", "45,X0/46,XY mixed gonadal dysgenesis": "ORPHA:1772", "Acrofrontofacionasal dysostosis": "ORPHA:1784", "Richieri-Costa-Colletto syndrome": "ORPHA:1784", "Dysosteosclerosis": "ORPHA:1782", "Hypomandibular faciocranial dysostosis": "ORPHA:1790", "Humerospinal dysostosis": "ORPHA:1792", "Acrofacial dysostosis, Catania type": "ORPHA:1786", "Opitz-Caltabiano syndrome": "ORPHA:1786", "Acrofacial dysostosis, Rodr\u00edguez type": "ORPHA:1788", "Transcobalamin deficiency": "ORPHA:859", "Inherited deficiency of transcobalamin": "ORPHA:859", "Transcobalamin II deficiency": "ORPHA:859", "Hypomyelination with atrophy of basal ganglia and cerebellum": "ORPHA:139441", "H-ABC": "ORPHA:139441", "Steroid dehydrogenase deficiency-dental anomalies syndrome": "ORPHA:3196", "Lyngstadaas syndrome": "ORPHA:3196", "Leukoencephalopathy with bilateral anterior temporal lobe cysts": "ORPHA:139444", "Progressive cavitating leukoencephalopathy": "ORPHA:139447", "Hypotrichosis with juvenile macular degeneration": "ORPHA:1573", "HJMD": "ORPHA:1573", "Hypotrichosis with juvenile macular dystrophy": "ORPHA:1573", "Alpers-Huttenlocher syndrome": "ORPHA:726", "Alpers progressive sclerosing poliodystrophy": "ORPHA:726", "Alpers syndrome": "ORPHA:726", "Progressive neuronal degeneration of childhood with liver disease": "ORPHA:726", "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome": "ORPHA:139450", "Balikova-Vermeesch syndrome": "ORPHA:139450", "OBSOLETE: Infantile striatothalamic degeneration": "ORPHA:1575", "Autosomal recessive bestrophinopathy": "ORPHA:139455", "Retinopathy, Burgess-Black type": "ORPHA:139455", "Retinal degeneration-nanophthalmos-glaucoma syndrome": "ORPHA:1574", "Mackay-Shek-Carr syndrome": "ORPHA:1574", "SERKAL syndrome": "ORPHA:139466", "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome": "ORPHA:139466", "OBSOLETE: Infantile thalamic degeneration": "ORPHA:1577", "Distal deletion 15q syndrome": "ORPHA:1596", "15q26 deletion syndrome": "ORPHA:1596", "Distal monosomy 15q": "ORPHA:1596", "Monosomy 15q26": "ORPHA:1596", "Telomeric 15q deletion syndrome": "ORPHA:1596", "Microphthalmia with brain and digit anomalies": "ORPHA:139471", "Bakrania-Ragge syndrome": "ORPHA:139471", "MCOPS6": "ORPHA:139471", "Syndromic microphthalmia type 6": "ORPHA:139471", "17q11.2 microduplication syndrome": "ORPHA:139474", "Dup(17)(q11.2)": "ORPHA:139474", "Grisart-Destr\u00e9e syndrome": "ORPHA:139474", "Trisomy 17q11.2": "ORPHA:139474", "Al-Gazali-Dattani syndrome": "ORPHA:139477", "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion": "ORPHA:1617", "Del(2)(q24)": "ORPHA:1617", "Monosomy 2q24": "ORPHA:1617", "1p36 deletion syndrome": "ORPHA:1606", "Del(1)(p36)": "ORPHA:1606", "Deletion 1p36": "ORPHA:1606", "Deletion 1pter": "ORPHA:1606", "Monosomy 1p36": "ORPHA:1606", "Monosomy 1pter": "ORPHA:1606", "Subtelomeric 1p36 deletion": "ORPHA:1606", "Autosomal recessive spastic paraplegia type 39": "ORPHA:139480", "SPG39": "ORPHA:139480", "Spastic paraplegia due to NTE mutation": "ORPHA:139480", "Spastic paraplegia due to neuropathy target esterase mutation": "ORPHA:139480", "Oculocerebrocutaneous syndrome": "ORPHA:1647", "Delleman syndrome": "ORPHA:1647", "Delleman-Oorthuys syndrome": "ORPHA:1647", "Leichtman-Wood-Rohn syndrome": "ORPHA:1647", "OCCS": "ORPHA:1647", "Orbital cyst with cerebral and focal dermal malformations": "ORPHA:1647", "Autosomal recessive ataxia due to ubiquinone deficiency": "ORPHA:139485", "ARCA2": "ORPHA:139485", "Autosomal recessive ataxia due to coenzyme Q10 deficiency": "ORPHA:139485", "Autosomal recessive cerebellar ataxia type 2": "ORPHA:139485", "Autosomal recessive spinocerebellar ataxia type 9": "ORPHA:139485", "SCAR9": "ORPHA:139485", "OBSOLETE: Hemochromatosis type 4": "ORPHA:139491", "OBSOLETE: Autosomal dominant hereditary hemochromatosis": "ORPHA:139491", "OBSOLETE: Ferroportin disease": "ORPHA:139491", "OBSOLETE: Hemochromatosis due to defect in ferroportin": "ORPHA:139491", "NON RARE IN EUROPE: Hemochromatosis type 1": "ORPHA:139498", "NON RARE IN EUROPE: C282Y/C282Y hemochromatosis": "ORPHA:139498", "NON RARE IN EUROPE: Classic hemochromatosis": "ORPHA:139498", "NON RARE IN EUROPE: HFE-related hemochromatosis": "ORPHA:139498", "Dentin dysplasia": "ORPHA:1653", "DD": "ORPHA:1653", "OBSOLETE: Dennis-Cohen syndrome": "ORPHA:1651", "Dietary iron overload disease": "ORPHA:139507", "African iron overload": "ORPHA:139507", "Bantu siderosis": "ORPHA:139507", "OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome": "ORPHA:1654", "Charcot-Marie-Tooth disease type 4J": "ORPHA:139515", "CMT4J": "ORPHA:139515", "Neuropathy with hearing impairment": "ORPHA:139512", "Dermatoosteolysis, Kirghizian type": "ORPHA:1657", "Distal hereditary motor neuropathy type 2": "ORPHA:139525", "Distal spinal muscular atrophy type 2": "ORPHA:139525", "dHMN2": "ORPHA:139525", "dSMA2": "ORPHA:139525", "Absence of fingerprints-congenital milia syndrome": "ORPHA:1658", "Absence of dermatoglyphics-congenital milia syndrome": "ORPHA:1658", "Baird syndrome": "ORPHA:1658", "Basan-Baird syndrome": "ORPHA:1658", "Distal hereditary motor neuropathy type 1": "ORPHA:139518", "Autosomal dominant distal juvenile spinal muscular atrophy type 1": "ORPHA:139518", "dHMN1": "ORPHA:139518", "Dermatoleukodystrophy": "ORPHA:1659", "Cutis laxa-leukodystrophy": "ORPHA:1659", "Distal spinal muscular atrophy type 3": "ORPHA:139547", "Autosomal recessive distal spinal muscular atrophy type 3": "ORPHA:139547", "Distal hereditary motor neuropathy type 3 and type 4": "ORPHA:139547", "dHMN3 and dHMN4": "ORPHA:139547", "dSMA3": "ORPHA:139547", "Distal hereditary motor neuropathy type 5": "ORPHA:139536", "Distal HMN V": "ORPHA:139536", "Distal hereditary motor neuropathy type V": "ORPHA:139536", "Distal spinal muscular atrophy type 5": "ORPHA:139536", "dHMN5": "ORPHA:139536", "Dermoodontodysplasia": "ORPHA:1660", "X-linked distal spinal muscular atrophy type 3": "ORPHA:139557", "ATP7A-related distal motor neuropathy": "ORPHA:139557", "DSMAX": "ORPHA:139557", "SMAX3": "ORPHA:139557", "X-linked dHMN3": "ORPHA:139557", "X-linked dSMA3": "ORPHA:139557", "X-linked distal hereditary motor neuropathy type 3": "ORPHA:139557", "X-linked corneal dermoid": "ORPHA:1661", "Corneal dystrophy epithelial-short stature syndrome": "ORPHA:1661", "Gu\u00edzar V\u00e1zquez-Luengas-Mu\u00f1oz syndrome": "ORPHA:1661", "Restrictive dermopathy": "ORPHA:1662", "Lethal hyperkeratosis-contracture syndrome": "ORPHA:1662", "Lethal restrictive dermopathy": "ORPHA:1662", "Lethal tight skin-contracture syndrome": "ORPHA:1662", "Distal hereditary motor neuropathy, Jerash type": "ORPHA:139552", "Autosomal recessive distal spinal muscular atrophy type 2": "ORPHA:139552", "dHMNJ": "ORPHA:139552", "Hereditary sensory and autonomic neuropathy with deafness and global delay": "ORPHA:139573", "HSAN with deafness and global delay": "ORPHA:139573", "HSAN with hearing loss and global delay": "ORPHA:139573", "Hereditary sensory and autonomic neuropathy with hearing loss and global delay": "ORPHA:139573", "Sporadic fetal brain disruption sequence": "ORPHA:1665", "Hereditary sensory and autonomic neuropathy type 1B": "ORPHA:139564", "HSAN with cough and gastroesophageal reflux": "ORPHA:139564", "HSAN1B": "ORPHA:139564", "Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux": "ORPHA:139564", "Hereditary sensory and autonomic neuropathy type IB": "ORPHA:139564", "X-linked hereditary sensory and autonomic neuropathy with deafness": "ORPHA:139583", "X-linked HSAN with deafness": "ORPHA:139583", "X-linked HSAN with hearing loss": "ORPHA:139583", "X-linked auditory neuropathy with peripheral sensory neuropathy type 1": "ORPHA:139583", "X-linked hereditary sensory and autonomic neuropathy with hearing loss": "ORPHA:139583", "Wolcott-Rallison syndrome": "ORPHA:1667", "Early-onset diabetes mellitus with multiple epiphyseal dysplasia": "ORPHA:1667", "WRS": "ORPHA:1667", "Mutilating hereditary sensory neuropathy with spastic paraplegia": "ORPHA:139578", "Mutilating HSAN with spastic paraplegia": "ORPHA:139578", "Distal hereditary motor neuropathy type 7": "ORPHA:139589", "Distal spinal muscular atrophy with vocal cord paralysis": "ORPHA:139589", "dHMN7": "ORPHA:139589", "Split cord malformation type I": "ORPHA:1671", "Diastematomyelia": "ORPHA:1671", "SCM type 1": "ORPHA:1671", "SCM type I": "ORPHA:1671", "Split cord malformation type 1": "ORPHA:1671", "Digitorenocerebral syndrome": "ORPHA:1674", "DRC syndrome": "ORPHA:1674", "Eronen-Somer-Gustafsson syndrome": "ORPHA:1674", "Stapes ankylosis with broad thumbs and toes": "ORPHA:140917", "Teunissen-Cremers syndrome": "ORPHA:140917", "Cryptorchidism-arachnodactyly-intellectual disability syndrome": "ORPHA:1548", "Van Benthem-Driessen-Hanveld syndrome": "ORPHA:1548", "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome": "ORPHA:1547", "Cryptomicrotia-brachydactyly syndrome": "ORPHA:1547", "Tonoki-Ohura-Niikawa syndrome": "ORPHA:1547", "Titin-related limb-girdle muscular dystrophy R10": "ORPHA:140922", "Autosomal recessive limb-girdle muscular dystrophy type 2J": "ORPHA:140922", "LGMD type 2J": "ORPHA:140922", "LGMD2J": "ORPHA:140922", "Limb-girdle muscular dystrophy type 2J": "ORPHA:140922", "Titin-related LGMD R10": "ORPHA:140922", "Crisponi syndrome": "ORPHA:1545", "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency": "ORPHA:140905", "Hyperlipidemia due to HL deficiency": "ORPHA:140905", "Hyperlipidemia due to HTGL deficiency": "ORPHA:140905", "Hyperlipidemia due to hepatic lipase deficiency": "ORPHA:140905", "Hyperlipidemia due to hepatic triglyceride lipase deficiency": "ORPHA:140905", "Jackson-Weiss syndrome": "ORPHA:1540", "Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome": "ORPHA:1540", "JWS": "ORPHA:1540", "Craniosynostosis-dysmorphism-brachydactyly syndrome": "ORPHA:1535", "Glass-Chapman-Hockley syndrome": "ORPHA:1535", "Brachydactyly type B2": "ORPHA:140908", "OBSOLETE: Craniosynostosis-fibular aplasia syndrome": "ORPHA:1533", "OBSOLETE: Lowry syndrome": "ORPHA:1533", "Joubert syndrome and related disorders": "ORPHA:140874", "JSRD": "ORPHA:140874", "Severe acute respiratory syndrome": "ORPHA:140896", "SARS": "ORPHA:140896", "SARS-1": "ORPHA:140896", "G\u00f3mez-L\u00f3pez-Hern\u00e1ndez syndrome": "ORPHA:1532", "Cerebellotrigeminal-dermal dysplasia syndrome": "ORPHA:1532", "Craniosynostosis-alopecia-brain defect syndrome": "ORPHA:1532", "Syndactyly-telecanthus-anogenital and renal malformations syndrome": "ORPHA:140952", "STAR syndrome": "ORPHA:140952", "Autosomal dominant macrothrombocytopenia": "ORPHA:140957", "CLOVES syndrome": "ORPHA:140944", "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome": "ORPHA:140944", "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome": "ORPHA:140944", "Low-flow priapism": "ORPHA:140949", "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome": "ORPHA:1555", "Beare-Stevenson cutis gyrata syndrome": "ORPHA:1555", "Lelis syndrome": "ORPHA:140936", "Ectodermal dysplasia-acanthosis nigricans syndrome": "ORPHA:140936", "Short stature due to primary acid-labile subunit deficiency": "ORPHA:140941", "Curry-Jones syndrome": "ORPHA:1553", "Corpus callosum agenesis-polysyndactyly syndrome": "ORPHA:1553", "Self-limited neonatal-infantile epilepsy": "ORPHA:140927", "BFNIS": "ORPHA:140927", "Benign familial neonatal-infantile seizures": "ORPHA:140927", "Benign neonatal-infantile epilepsy": "ORPHA:140927", "SeLFNIE": "ORPHA:140927", "Linear atrophoderma of Moulin": "ORPHA:140933", "Primary angiitis of the central nervous system": "ORPHA:140989", "Isolated angiitis of the central nervous system": "ORPHA:140989", "PACNS": "ORPHA:140989", "PCNSV": "ORPHA:140989", "Primary central nervous system vasculitis": "ORPHA:140989", "Primary vasculitis of the central nervous system": "ORPHA:140989", "Dandy-Walker malformation-postaxial polydactyly syndrome": "ORPHA:1566", "DWM with postaxial polydactyly": "ORPHA:1566", "Pierquin syndrome": "ORPHA:1566", "RHYNS syndrome": "ORPHA:140976", "Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome": "ORPHA:140976", "Dahlberg-Borer-Newcomer syndrome": "ORPHA:1563", "Dahlberg syndrome": "ORPHA:1563", "Lymphedema-hypoparathyroidism syndrome": "ORPHA:1563", "Saldino-Mainzer syndrome": "ORPHA:140969", "Conorenal syndrome": "ORPHA:140969", "Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome": "ORPHA:140969", "Palmoplantar keratoderma, Nagashima type": "ORPHA:140966", "PPK, Nagashima type": "ORPHA:140966", "Palmoplantar hyperkeratosis, Nagashima type": "ORPHA:140966", "OBSOLETE: Dacryocystitis-osteopoikilosis syndrome": "ORPHA:1562", "OBSOLETE: Gunal-Seber-Basaran syndrome": "ORPHA:1562", "Bilateral microtia-deafness-cleft palate syndrome": "ORPHA:140963", "Bilateral microtia-hearing loss-cleft palate syndrome": "ORPHA:140963", "Cutis verticis gyrata-intellectual disability syndrome": "ORPHA:1557", "McDowall syndrome": "ORPHA:1557", "Cervical dermoid cyst": "ORPHA:141046", "Dermoid cyst of the neck": "ORPHA:141046", "Guanidinoacetate methyltransferase deficiency": "ORPHA:382", "GAMT deficiency": "ORPHA:382", "Prolidase deficiency": "ORPHA:742", "Hyperimidodipeptiduria": "ORPHA:742", "Fourth branchial cleft anomaly": "ORPHA:141037", "Fourth branchial cleft cyst": "ORPHA:141037", "Fourth branchial cleft fistula": "ORPHA:141037", "Third branchial cleft anomaly": "ORPHA:141030", "Third branchial cleft cyst": "ORPHA:141030", "Third branchial cleft fistula": "ORPHA:141030", "Second branchial cleft anomaly": "ORPHA:141022", "Second branchial cleft cyst": "ORPHA:141022", "Second branchial cleft fistula": "ORPHA:141022", "Lipodystrophy due to peptidic growth factors deficiency": "ORPHA:1979", "Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency": "ORPHA:1979", "Hoepffner-Dreyer-Reimers syndrome": "ORPHA:1979", "Werner-like syndrome due to combined growth factor deficiency": "ORPHA:1979", "First branchial cleft anomaly": "ORPHA:141013", "First branchial cleft cyst": "ORPHA:141013", "First branchial cleft fistula": "ORPHA:141013", "Knobloch syndrome": "ORPHA:1571", "Knobloch-Layer syndrome": "ORPHA:1571", "Retinal detachment-occipital encephalocele syndrome": "ORPHA:1571", "Orofaciodigital syndrome type 9": "ORPHA:141007", "OFD9": "ORPHA:141007", "Oral-facial-digital syndrome type 9": "ORPHA:141007", "Oral-facial-digital syndrome with retinal abnormalities": "ORPHA:141007", "Orofaciodigital syndrome with retinal abnormalities": "ORPHA:141007", "Familial benign copper deficiency": "ORPHA:1551", "Familial benign hypocupremia": "ORPHA:1551", "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome": "ORPHA:1568", "Pettigrew Syndrome": "ORPHA:1568", "Orofaciodigital syndrome type 11": "ORPHA:141000", "OFD11": "ORPHA:141000", "Oral-facial-digital syndrome type 11": "ORPHA:141000", "Oral-facial-digital syndrome, Gabrielli type": "ORPHA:141000", "Orofaciodigital syndrome, Gabrielli type": "ORPHA:141000", "Orofaciodigital syndrome": "ORPHA:140997", "OFD": "ORPHA:488265", "Oral-facial-digital syndrome": "ORPHA:140997", "De Sanctis-Cacchione syndrome": "ORPHA:1569", "Xeroderma pigmentosum with neurologic manifestation": "ORPHA:1569", "OBSOLETE: Cortada-Koussef-Matsumoto syndrome": "ORPHA:1499", "OBSOLETE: Hereditary iron overload with anemia": "ORPHA:140432", "X-linked complicated corpus callosum dysgenesis": "ORPHA:1497", "Primary intraosseous venous malformation": "ORPHA:140436", "Intraosseous hemangioma": "ORPHA:140436", "Osseous venous malformation": "ORPHA:140436", "OBSOLETE: Hereditary motor and sensory neuropathy": "ORPHA:140450", "OBSOLETE: HMSN": "ORPHA:140450", "Autosomal dominant hereditary demyelinating motor and sensory neuropathy": "ORPHA:140453", "Vici syndrome": "ORPHA:1493", "Corpus callosum agenesis-cataract-immunodeficiency syndrome": "ORPHA:1493", "Dionisi-Vici-Sabetta-Gambarara syndrome": "ORPHA:1493", "Secondary hypoparathyroidism due to impaired parathormon secretion": "ORPHA:140286", "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome": "ORPHA:1495", "Da Silva syndrome": "ORPHA:1495", "OBSOLETE: Hereditary iron overload with neurologic manifestation": "ORPHA:140428", "Autosomal recessive distal hereditary motor neuropathy": "ORPHA:140468", "Autosomal recessive dHMN": "ORPHA:140468", "Autosomal recessive dSMA": "ORPHA:140468", "Autosomal recessive distal spinal muscular atrophy": "ORPHA:140468", "Coxopodopatellar syndrome": "ORPHA:1509", "Ischiocoxopodopatellar syndrome": "ORPHA:1509", "Ischiopatellar dysplasia": "ORPHA:1509", "Ischiopubicpatellar syndrome": "ORPHA:1509", "Scott-Taor syndrome": "ORPHA:1509", "Small patella syndrome": "ORPHA:1509", "Hereditary sensory and autonomic neuropathy": "ORPHA:140471", "HSAN": "ORPHA:140471", "Crane-Heise syndrome": "ORPHA:1512", "Autosomal dominant hereditary sensory and autonomic neuropathy": "ORPHA:140474", "Autosomal recessive hereditary sensory and autonomic neuropathy": "ORPHA:140477", "Thin ribs-tubular bones-dysmorphism syndrome": "ORPHA:1506", "Sharma-Kapoor-Ramji syndrome": "ORPHA:1506", "Autosomal dominant hereditary axonal motor and sensory neuropathy": "ORPHA:140456", "Autosomal recessive hereditary demyelinating motor and sensory neuropathy": "ORPHA:140459", "OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy": "ORPHA:140462", "Coxoauricular syndrome": "ORPHA:1508", "Autosomal dominant distal hereditary motor neuropathy": "ORPHA:140465", "Autosomal dominant dHMN": "ORPHA:140465", "Autosomal dominant distal spinal muscular atrophy": "ORPHA:140465", "Autosomal recessive Robinow syndrome": "ORPHA:1507", "COVESDEM syndrome": "ORPHA:1507", "Costovertebral segmentation defect-mesomelia syndrome": "ORPHA:1507", "RRS": "ORPHA:1507", "Cant\u00fa syndrome": "ORPHA:1517", "Congenital hypertrichosis-acromegaloid facial features spectrum": "ORPHA:1517", "Congenital hypertrichosis-coarse facial features spectrum": "ORPHA:1517", "Hypertrichotic osteochondrodysplasia": "ORPHA:1517", "OBSOLETE: Channelopathy": "ORPHA:140503", "SPECC1L-related hypertelorism syndrome": "ORPHA:1519", "Brachycephalofrontonasal dysplasia": "ORPHA:1519", "Teebi hypertelorism syndrome": "ORPHA:1519", "Craniofrontonasal dysplasia": "ORPHA:1520", "CFND": "ORPHA:1520", "CFNS": "ORPHA:1520", "Craniofrontonasal syndrome": "ORPHA:1520", "Craniodiaphyseal dysplasia": "ORPHA:1513", "Craniodigital-intellectual disability syndrome": "ORPHA:1514", "Scott craniodigital syndrome": "ORPHA:1514", "Scott-Bryant-Graham syndrome": "ORPHA:1514", "Autosomal dominant slowed nerve conduction velocity": "ORPHA:140481", "OBSOLETE: Neurological channelopathy": "ORPHA:140500", "Cranioectodermal dysplasia": "ORPHA:1515", "CED": "ORPHA:1515", "Sensenbrenner syndrome": "ORPHA:1515", "Non-syndromic bilambdoid and sagittal craniosynostosis": "ORPHA:1516", "BLSS": "ORPHA:1516", "Bilateral lambdoid and sagittal synostosis": "ORPHA:1516", "Isolated sagittal and bilambdoid craniosynostosis": "ORPHA:1516", "Non-syndromic sagittal and bilateral lambdoid synostosis": "ORPHA:1516", "OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome": "ORPHA:1526", "OBSOLETE: Acro-cephalo-synostosis": "ORPHA:1526", "OBSOLETE: Allain-Babin-Demarquez syndrome": "ORPHA:1526", "Craniosynostosis, Philadelphia type": "ORPHA:1527", "Neuro-ophthalmological disease": "ORPHA:140653", "Craniotelencephalic dysplasia": "ORPHA:1528", "Craniofacial-deafness-hand syndrome": "ORPHA:1529", "CDHS": "ORPHA:1529", "Craniofacial-hearing loss-hand syndrome": "ORPHA:1529", "Sommer-Young-Wee-Frye syndrome": "ORPHA:1529", "Craniofrontonasal dysplasia-Poland anomaly syndrome": "ORPHA:1521", "Webster-Deming syndrome": "ORPHA:1521", "Craniometaphyseal dysplasia": "ORPHA:1522", "Cranio-osteoarthropathy": "ORPHA:1525", "Currarino disease": "ORPHA:1525", "Currarino idiopathic osteoarthropathy": "ORPHA:1525", "Reginato-Schiapachasse syndrome": "ORPHA:1525", "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome": "ORPHA:1969", "FACES syndrome": "ORPHA:1969", "Friedman-Goodman syndrome": "ORPHA:1969", "Flat face-microstomia-ear anomaly syndrome": "ORPHA:1968", "Blepharophimosis-telecanthus-microstomia syndrome": "ORPHA:1968", "Simosa craniofacial syndrome": "ORPHA:1968", "Simosa-Penchaszadeh-Bustos syndrome": "ORPHA:1968", "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome": "ORPHA:1970", "Faciocardiorenal syndrome": "ORPHA:1973", "Eastman-Bixler syndrome": "ORPHA:1973", "Lethal faciocardiomelic dysplasia": "ORPHA:1972", "Autosomal recessive faciodigitogenital syndrome": "ORPHA:1974", "Aarskog-like syndrome": "ORPHA:1974", "Facio-digito-genital syndrome, Kuwait type": "ORPHA:1974", "Teebi-Naguib-Alawadi syndrome": "ORPHA:1974", "Exostoses-anetodermia-brachydactyly type E syndrome": "ORPHA:1962", "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome": "ORPHA:1964", "Char-Douglas-Dungan syndrome": "ORPHA:1964", "Dysplasia epiphysealis hemimelica": "ORPHA:1822", "Trevor disease": "ORPHA:1822", "Lowry-Wood syndrome": "ORPHA:1824", "Epiphyseal dysplasia-microcephaly-nystagmus syndrome": "ORPHA:1824", "Epiphyseal stippling-osteoclastic hyperplasia syndrome": "ORPHA:1952", "Pacman dysplasia": "ORPHA:1952", "Congenital lethal erythroderma": "ORPHA:1954", "Spinocerebellar ataxia type 34": "ORPHA:1955", "Erythrokeratodermia with ataxia": "ORPHA:1955", "SCA34": "ORPHA:1955", "Spinocerebellar ataxia and erythrokeratodermia": "ORPHA:1955", "OBSOLETE: Erythromelalgia": "ORPHA:1956", "Diabetic embryopathy": "ORPHA:1926", "Diabetes-induced teratogenicity": "ORPHA:1926", "Maternal phenylketonuria": "ORPHA:2209", "Hyperphenylalaninemic embryopathy": "ORPHA:2209", "Maternal PKU": "ORPHA:2209", "Maternal hyperphenylalaninemia": "ORPHA:2209", "Phenylketonuric embryopathy": "ORPHA:2209", "Emery-Nelson syndrome": "ORPHA:1927", "Hand and foot deformity-flat facies syndrome": "ORPHA:1927", "Eng-Strom syndrome": "ORPHA:1937", "Short stature-locking fingers syndrome": "ORPHA:1937", "Shoulder and thorax deformity-congenital heart disease syndrome": "ORPHA:1940", "Toluene embryopathy": "ORPHA:1920", "Phenobarbital embryopathy": "ORPHA:1919", "Fetal methylmercury syndrome": "ORPHA:1917", "Congenital Minamata disease": "ORPHA:1917", "Fetal methylmercury poisoning": "ORPHA:1917", "Intrauterine methylmercury poisoning": "ORPHA:1917", "Prenatal methylmercury poisoning": "ORPHA:1917", "Methimazole embryofetopathy": "ORPHA:1923", "MMI/CMZ embryofetopathy": "ORPHA:1923", "MMI/CMZ embryopathy": "ORPHA:1923", "Methimazole/carbimazole embryofetopathy": "ORPHA:1923", "Methimazole/carbimazole embryopathy": "ORPHA:1923", "Fetal hydantoin syndrome": "ORPHA:1912", "Fetal dihydantoin syndrome": "ORPHA:1912", "Phenytoin embryofetopathy": "ORPHA:1912", "Fetal minoxidil syndrome": "ORPHA:1918", "Minoxidil antenatal exposure": "ORPHA:1918", "Cocaine embryofetopathy": "ORPHA:1911", "Fetal cocaine syndrome": "ORPHA:1911", "Fetal iodine syndrome": "ORPHA:1910", "Diethylstilbestrol syndrome": "ORPHA:1916", "DES embryofetopathy": "ORPHA:1916", "DES syndrome": "ORPHA:1916", "Diethylstilbestrol embryofetopathy": "ORPHA:1916", "Distilbene embryofetopathy": "ORPHA:1916", "Fetal cytomegalovirus syndrome": "ORPHA:294", "Antenatal CMV infection": "ORPHA:294", "Antenatal cytomegalovirus infection": "ORPHA:294", "Mother-to-child transmission of cytomegalovirus syndrome": "ORPHA:294", "Vitamin K antagonist embryofetopathy": "ORPHA:1914", "Vitamin K antagonist embryopathy": "ORPHA:1914", "Warfarin embryofetopathy": "ORPHA:1914", "Warfarin embryopathy": "ORPHA:1914", "di Sala syndrome": "ORPHA:1914", "Fetal trimethadione syndrome": "ORPHA:1913", "EEC syndrome": "ORPHA:1896", "Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome": "ORPHA:1896", "EEM syndrome": "ORPHA:1897", "Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome": "ORPHA:1897", "Aminopterin/methotrexate embryofetopathy": "ORPHA:1908", "Aminopterin embryopathy syndrome": "ORPHA:1908", "Fetal aminopterin syndrome": "ORPHA:1908", "Indomethacin embryofetopathy": "ORPHA:1909", "Fetal indomethacin syndrome": "ORPHA:1909", "Fetal valproate spectrum disorder": "ORPHA:1906", "Fetal valproate syndrome": "ORPHA:1906", "Fetal valproic acid syndrome": "ORPHA:1906", "Valproic acid embryopathy": "ORPHA:1906", "Ectrodactyly-ectodermal dysplasia without clefting syndrome": "ORPHA:1888", "EEC syndrome without cleft lip/palate": "ORPHA:1888", "Ectrodactyly-cleft palate syndrome": "ORPHA:1889", "ECP syndrome": "ORPHA:1889", "Edinburgh malformation syndrome": "ORPHA:1895", "Typus Edinburgensis": "ORPHA:1895", "Intellectual disability-spasticity-ectrodactyly syndrome": "ORPHA:1891", "Jancar syndrome": "ORPHA:1891", "Ectrodactyly-polydactyly syndrome": "ORPHA:1892", "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome": "ORPHA:1816", "Berlin syndrome": "ORPHA:1816", "Ectodermal dysplasia, Berlin type": "ORPHA:1816", "Focal facial dermal dysplasia type III": "ORPHA:1807", "FFDD type III": "ORPHA:1807", "FFDD3": "ORPHA:1807", "Focal facial dermal dysplasia 3, Setleis type": "ORPHA:1807", "Setleis syndrome": "ORPHA:1807", "Ectodermal dysplasia, trichoodontoonychial type": "ORPHA:1818", "Ectodermal dysplasia-sensorineural deafness syndrome": "ORPHA:1883", "Ectodermal dysplasia-sensorineural hearing loss syndrome": "ORPHA:1883", "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome": "ORPHA:1882", "ANOTHER syndrome": "ORPHA:1882", "HEDH syndrome": "ORPHA:1882", "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome": "ORPHA:1875", "Bassoe syndrome": "ORPHA:1875", "Jalili syndrome": "ORPHA:1873", "Cone rod dystrophy-amelogenesis imperfecta syndrome": "ORPHA:1873", "Melorheostosis with osteopoikilosis": "ORPHA:1879", "MSBD syndrome": "ORPHA:1879", "Mixed sclerosing bone dystrophy": "ORPHA:1879", "Hereditary bullous dystrophy, macular type": "ORPHA:1867", "Cone rod dystrophy": "ORPHA:1872", "Progressive cone dystrophy": "ORPHA:1871", "Cone dystrophy": "ORPHA:1871", "Thanatophoric dysplasia type 1": "ORPHA:1860", "TD1": "ORPHA:1860", "Thanatophoric dwarfism type 1": "ORPHA:1860", "Thoracic dysplasia-hydrocephalus syndrome": "ORPHA:1861", "Dyssegmental dysplasia, Silverman-Handmaker type": "ORPHA:1865", "Skeletal dysplasia-epilepsy-short stature syndrome": "ORPHA:1858", "Gurrieri-Sammito-Bellussi syndrome": "ORPHA:1858", "Spondylometaphyseal dysplasia": "ORPHA:254", "Renal dysplasia-megalocystis-sirenomelia syndrome": "ORPHA:1850", "Selig-Benacerraf-Greene syndrome": "ORPHA:1850", "X-linked retinal dysplasia": "ORPHA:1852", "Bone dysplasia, lethal Holmgren type": "ORPHA:1842", "Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type": "ORPHA:1842", "Hereditary mucoepithelial dysplasia": "ORPHA:1839", "Urban-Schosser-Spohn syndrome": "ORPHA:1839", "Metaphyseal dysplasia without hypotrichosis": "ORPHA:1838", "Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome": "ORPHA:1838", "Metaphyseal chondrodysplasia, Rosenberg type": "ORPHA:1837", "Rosenberg-Lohr syndrome": "ORPHA:1837", "Mesomelic dysplasia, Kantaputra type": "ORPHA:1836", "Kantaputra mesomelic dysplasia": "ORPHA:1836", "MDK": "ORPHA:1836", "Mesomelic dysplasia, Thai type": "ORPHA:1836", "Axial mesodermal dysplasia spectrum": "ORPHA:1834", "Blastogenesis defect": "ORPHA:1834", "Russell-Weaver-Bull syndrome": "ORPHA:1834", "De Hauwere syndrome": "ORPHA:1831", "De Hauwere-Chitty syndrome": "ORPHA:1831", "Iris dysplasia-hypertelorism-deafness syndrome": "ORPHA:1831", "Iris dysplasia-hypertelorism-hearing loss syndrome": "ORPHA:1831", "Schimke immuno-osseous dysplasia": "ORPHA:1830", "Schimke syndrome": "ORPHA:1830", "Spondyloepiphyseal dysplasia-nephrotic syndrome": "ORPHA:1830", "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome": "ORPHA:1825", "Epiphyseal dysplasia-deafness-dysmorphism syndrome": "ORPHA:1825", "Finucane-Kurtz-Scott syndrome": "ORPHA:1825", "Multiple epiphyseal dysplasia": "ORPHA:251", "EDM": "ORPHA:251", "MED": "ORPHA:251", "Polyepiphyseal dysplasia": "ORPHA:251", "OBSOLETE: Localized epiphyseal dysplasia": "ORPHA:1823", "Odontomicronychial dysplasia": "ORPHA:1811", "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome": "ORPHA:1812", "Hidrotic ectodermal dysplasia, Christianson-Fourie type": "ORPHA:1808", "Christianson-Fourie syndrome": "ORPHA:1808", "Hidrotic ectodermal dysplasia, Halal type": "ORPHA:1809", "Halal-Setton-Wang syndrome": "ORPHA:1809", "Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome": "ORPHA:1809", "Dyssegmental dysplasia-glaucoma syndrome": "ORPHA:1804", "Ectodermal dysplasia-blindness syndrome": "ORPHA:1806", "Ghosal hematodiaphyseal dysplasia": "ORPHA:1802", "Diaphyseal dysplasia-anemia syndrome": "ORPHA:1802", "Ghosal syndrome": "ORPHA:1802", "Thoracomelic dysplasia": "ORPHA:1803", "Rivera-Perez-Salas syndrome": "ORPHA:1803", "Thoracolimb dysplasia, Rivera type": "ORPHA:1803", "OBSOLETE: Craniofaciocervical osteoglyphic dysplasia": "ORPHA:1800", "OBSOLETE: Bazopoulou-Kyrkanidou syndrome": "ORPHA:1800", "Kyphomelic dysplasia": "ORPHA:1801", "Craniofacial dysostosis-diaphyseal hyperplasia syndrome": "ORPHA:1798", "Autosomal dominant osteosclerosis, Stanescu type": "ORPHA:1798", "Dysostosis, Stanescu type": "ORPHA:1798", "Stanescu osteosclerosis": "ORPHA:1798", "Familial developmental dysphasia": "ORPHA:1799", "Billard-Toutain-Maheut syndrome": "ORPHA:1799", "FOXP2-associated dysphasia": "ORPHA:1799", "Oculomaxillofacial dysostosis": "ORPHA:1794", "Richieri-Costa-Gorlin syndrome": "ORPHA:1794", "Isolated hemihyperplasia": "ORPHA:2128", "Hemi 3 syndrome": "ORPHA:2128", "Hemicorporal hypertrophy": "ORPHA:2128", "Isolated hemihypertrophy": "ORPHA:2128", "OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome": "ORPHA:2129", "OBSOLETE: HIPO syndrome": "ORPHA:2129", "Non-syndromic hemimelia": "ORPHA:2130", "Non-syndromic longitudinal meromelia": "ORPHA:2130", "Hennekam syndrome": "ORPHA:2136", "Lymphedema-lymphangiectasia-intellectual disability syndrome": "ORPHA:2136", "46,XX ovotesticular difference of sex development": "ORPHA:2138", "46,XX ovotesticular DSD": "ORPHA:2138", "46,XX ovotesticular disorder of sex development": "ORPHA:2138", "Hern\u00e1ndez-Aguirre Negrete syndrome": "ORPHA:2139", "Intellectual disability-epilepsy-bulbous nose syndrome": "ORPHA:2139", "Diaphragmatic defect-limb deficiency-skull defect syndrome": "ORPHA:2141", "Froster-Huch syndrome": "ORPHA:2141", "Donnai-Barrow syndrome": "ORPHA:2143", "DBS/FOAR syndrome": "ORPHA:2143", "Diaphragmatic hernia-exomphalos-hypertelorism syndrome": "ORPHA:2143", "Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome": "ORPHA:2143", "Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome": "ORPHA:2143", "FOAR syndrome": "ORPHA:2143", "Facio-oculo-acoustico-renal syndrome": "ORPHA:2143", "Holmes-Schepens syndrome": "ORPHA:2143", "Syndrome of ocular and facial anomalies, telecanthus and deafness": "ORPHA:2143", "Syndrome of ocular and facial anomalies, telecanthus and hearing loss": "ORPHA:2143", "Craniosynostosis, Herrmann-Opitz type": "ORPHA:2145", "Nodular neuronal heterotopia": "ORPHA:2149", "Lissencephaly type 1 due to doublecortin gene mutation": "ORPHA:2148", "X-linked lissencephaly type 1": "ORPHA:2148", "Hemophagocytic syndrome associated with an infection": "ORPHA:158048", "IAHS": "ORPHA:158048", "VAHS": "ORPHA:158048", "Virus-associated hemophagocytic syndrome": "ORPHA:158048", "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease": "ORPHA:158057", "Hallermann-Streiff syndrome": "ORPHA:2108", "Fran\u00e7ois dyscephalic syndrome": "ORPHA:2108", "Oculomandibulofacial syndrome": "ORPHA:2108", "Macrophage activation syndrome": "ORPHA:158061", "Hall-Riggs syndrome": "ORPHA:2107", "Hallux varus-preaxial polysyndactyly syndrome": "ORPHA:2110", "Kleiner-Holmes syndrome": "ORPHA:2110", "Hallermann-Streiff-like syndrome": "ORPHA:2109", "Dennis-Fairhurst-Moore syndrome": "ORPHA:2109", "Hallermann-Streiff-Fran\u00e7ois syndrome, severe form": "ORPHA:2109", "Severe Hallermann-Streiff-Fran\u00e7ois syndrome": "ORPHA:2109", "OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome": "ORPHA:2112", "Cystic hamartoma of lung and kidney": "ORPHA:2111", "Graham-Boyle-Troxell syndrome": "ORPHA:2111", "Genetic dementia": "ORPHA:158124", "Huntington disease-like syndrome": "ORPHA:158266", "Huntington disease phenocopy syndrome": "ORPHA:158266", "Harrod syndrome": "ORPHA:2115", "Cranio-facio-digito-genital syndrome": "ORPHA:2115", "Rare genetic hematologic disease": "ORPHA:158300", "Hip dysplasia, Beukes type": "ORPHA:2114", "BFHD": "ORPHA:2114", "Beukes familial hip dysplasia": "ORPHA:2114", "Cilliers-Beighton syndrome": "ORPHA:2114", "Premature degenerative osteoarthropathy of the hip": "ORPHA:2114", "Short stature-craniofacial anomalies-genital hypoplasia syndrome": "ORPHA:2994", "Haspeslagh-Fryns-Muelenaere syndrome": "ORPHA:2994", "Hartsfield syndrome": "ORPHA:2117", "Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome": "ORPHA:2117", "OBSOLETE: Heckenlively syndrome": "ORPHA:2120", "HEC syndrome": "ORPHA:2119", "Hydrocephalus-endocardial fibroelastosis-cataract syndrome": "ORPHA:2119", "Cavernous hemangiomas of face-supraumbilical midline raphe syndrome": "ORPHA:2124", "Multifocal infantile hemangioma with extracutenous involvement": "ORPHA:2123", "Diffuse neonatal hemangiomatosis": "ORPHA:2123", "Benign cephalic histiocytosis": "ORPHA:157997", "GMS syndrome": "ORPHA:2090", "Goniodysgenesis-intellectual disability-short stature syndrome": "ORPHA:2090", "Generalized eruptive histiocytosis": "ORPHA:157991", "Generalized eruptive histiocytoma": "ORPHA:157991", "Multinodular goiter-cystic kidney-polydactyly syndrome": "ORPHA:2091", "Daneman-Davy-Mancer syndrome": "ORPHA:2091", "Thyroid-renal-digital anomalies": "ORPHA:2091", "Non-Langerhans cell histiocytosis": "ORPHA:157987", "Glomerulonephritis-sparse hair-telangiectasis syndrome": "ORPHA:2087", "Necrobiotic xanthogranuloma": "ORPHA:158011", "Papular xanthoma": "ORPHA:158008", "Gordon syndrome": "ORPHA:376", "Camptodactyly-cleft palate-clubfoot syndrome": "ORPHA:376", "Distal arthrogryposis type 3": "ORPHA:376", "Distal arthrogryposis type IIA": "ORPHA:376", "Xanthoma disseminatum": "ORPHA:158003", "Montgomery syndrome": "ORPHA:158003", "Focal dermal hypoplasia": "ORPHA:2092", "Goltz syndrome": "ORPHA:2092", "Goltz-Gorlin syndrome": "ORPHA:2092", "Juvenile xanthogranuloma": "ORPHA:158000", "JXG": "ORPHA:158000", "Acromesomelic dysplasia, Grebe type": "ORPHA:2098", "Chondrodysplasia, Grebe type": "ORPHA:2098", "Hereditary progressive mucinous histiocytosis": "ORPHA:158025", "Progressive nodular histiocytosis": "ORPHA:158022", "Greig cephalopolysyndactyly syndrome": "ORPHA:380", "GCPS": "ORPHA:380", "Gorlin-Chaudhry-Moss syndrome": "ORPHA:2095", "Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome": "ORPHA:2095", "Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome": "ORPHA:2095", "Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome": "ORPHA:2095", "GCM syndrome": "ORPHA:2095", "Indeterminate cell histiocytosis": "ORPHA:158019", "Indeterminate dendritic cell neoplasm": "ORPHA:158019", "Indeterminate dendritic cell tumor": "ORPHA:158019", "Rosa\u00ef-Dorfman disease": "ORPHA:158014", "Destombes-Rosa\u00ef-Dorfman disease": "ORPHA:158014", "Rosa\u00ef-Dorfman-Destombes disease": "ORPHA:158014", "SHML": "ORPHA:158014", "Sinus histiocytosis with massive lymphadenopathy": "ORPHA:158014", "Grant syndrome": "ORPHA:2097", "Secondary hemophagocytic lymphohistiocytosis": "ORPHA:158041", "Acquired hemophagocytic lymphohistiocytosis": "ORPHA:158041", "Reactive hemophagocytic syndrome": "ORPHA:158041", "Grubben-de Cock-Borghgraef syndrome": "ORPHA:2101", "Developmental delay-hypotonia-extremities hypertrophy syndrome": "ORPHA:2101", "Primary hemophagocytic lymphohistiocytosis": "ORPHA:158038", "Genetic HLH": "ORPHA:158038", "Genetic hemophagocytic lymphohistiocytosis": "ORPHA:158038", "Primary HLH": "ORPHA:158038", "Dysmorphism-pectus carinatum-joint laxity syndrome": "ORPHA:2104", "Gu\u00edzar V\u00e1zquez-S\u00e1nchez-Manzano syndrome": "ORPHA:2104", "OBSOLETE: Grix-Blankenship-Peterson syndrome": "ORPHA:2099", "OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome": "ORPHA:2099", "Hemophagocytic syndrome": "ORPHA:158032", "HLH": "ORPHA:158032", "Hemophagocytic lymphohistiocytosis": "ORPHA:158032", "Sea-blue histiocytosis": "ORPHA:158029", "Trigeminal autonomic cephalalgia": "ORPHA:157843", "Gastrocutaneous syndrome": "ORPHA:2069", "Neuroferritinopathy": "ORPHA:157846", "Adult basal ganglia disease": "ORPHA:157846", "Ferritin-related neurodegeneration": "ORPHA:157846", "Hereditary ferritinopathy": "ORPHA:157846", "Craniorhiny": "ORPHA:157832", "GAPO syndrome": "ORPHA:2067", "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome": "ORPHA:2067", "Paroxysmal hemicrania": "ORPHA:157835", "Galloway-Mowat syndrome": "ORPHA:2065", "Galloway syndrome": "ORPHA:2065", "Microcephaly-hiatus hernia-nephrotic syndrome": "ORPHA:2065", "Nephrosis-neuronal dysmigration syndrome": "ORPHA:2065", "Genitopalatocardiac syndrome": "ORPHA:2075", "Gardner-Silengo-Wachtel syndrome": "ORPHA:2075", "Huntington disease-like 1": "ORPHA:157941", "Early-onset prion disease with prominent psychiatric features": "ORPHA:157941", "HDL1": "ORPHA:157941", "Gemignani syndrome": "ORPHA:2074", "Spinocerebellar ataxia-amyotrophy-deafness syndrome": "ORPHA:2074", "Spinocerebellar ataxia-amyotrophy-hearing loss syndrome": "ORPHA:2074", "Pantothenate kinase-associated neurodegeneration": "ORPHA:157850", "Hallervorden-Spatz syndrome": "ORPHA:157850", "NBIA1": "ORPHA:157850", "Neurodegeneration with brain iron accumulation type 1": "ORPHA:157850", "PKAN": "ORPHA:157850", "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome": "ORPHA:2072", "Cardiovascular Gaucher disease": "ORPHA:2072", "Gaucher disease type 3C": "ORPHA:2072", "Gaucher-like disease": "ORPHA:2072", "HARP syndrome": "ORPHA:157855", "Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome": "ORPHA:157855", "ANE syndrome": "ORPHA:157954", "Alopecia-progressive neurological defect-endocrinopathy syndrome": "ORPHA:157954", "Oculoauricular syndrome, Schorderet type": "ORPHA:157962", "Huntington disease-like 3": "ORPHA:157946", "HDL3": "ORPHA:157946", "Geroderma osteodysplastica": "ORPHA:2078", "Combined immunodeficiency with granulomatosis": "ORPHA:157949", "CID due to RAG 1/2 deficiency": "ORPHA:157949", "Combined immunodeficiency due to RAG 1/2 deficiency": "ORPHA:157949", "German syndrome": "ORPHA:2077", "Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome": "ORPHA:2077", "Congenital muscular dystrophy due to LMNA mutation": "ORPHA:157973", "L-CMD": "ORPHA:157973", "LMNA-related congenital muscular dystrophy": "ORPHA:157973", "Glaucoma-sleep apnea syndrome": "ORPHA:2085", "NON RARE IN EUROPE: Bladder cancer": "ORPHA:157980", "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome": "ORPHA:2084", "GEMSS syndrome": "ORPHA:2084", "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome": "ORPHA:157965", "SCD-EDS": "ORPHA:157965", "SLC39A13-related spEDS": "ORPHA:157965", "SLC39A13-related spondylodysplastic EDS": "ORPHA:157965", "Spondylocheirodysplastic Ehlers-Danlos syndrome": "ORPHA:157965", "spEDS-SLC39A13": "ORPHA:157965", "Prominent glabella-microcephaly-hypogenitalism syndrome": "ORPHA:2083", "MacDermot-Winter syndrome": "ORPHA:2083", "Cerebral gigantism-jaw cysts syndrome": "ORPHA:2081", "Cramer-Niederdellmann syndrome": "ORPHA:2081", "Fraser-like syndrome": "ORPHA:2051", "Growth deficiency-brachydactyly-dysmorphism syndrome": "ORPHA:2055", "Frias syndrome": "ORPHA:2055", "Frontofacionasal dysplasia": "ORPHA:1791", "Gollop syndrome": "ORPHA:1791", "Frontometaphyseal dysplasia": "ORPHA:1826", "Flynn-Aird syndrome": "ORPHA:2047", "Foix-Chavany-Marie syndrome": "ORPHA:2048", "Bilateral anterior opercular syndrome": "ORPHA:2048", "Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation": "ORPHA:2048", "Facio-pharyngo-glosso-masticatory diplegia": "ORPHA:2048", "Cole-Carpenter syndrome": "ORPHA:2050", "Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome": "ORPHA:2050", "Fukuda-Miyanomae-Nakata syndrome": "ORPHA:2060", "Splenogonadal fusion-limb defects-micrognathia syndrome": "ORPHA:2063", "SGFLD syndrome": "ORPHA:2063", "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome": "ORPHA:2064", "Faulk-Epstein-Jones syndrome": "ORPHA:2064", "Frontonasal dysplasia": "ORPHA:250", "Median cleft face syndrome": "ORPHA:250", "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome": "ORPHA:2057", "Frydman-Cohen-Karmon syndrome": "ORPHA:2057", "Fryns syndrome": "ORPHA:2059", "Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome": "ORPHA:2059", "Gingival fibromatosis-hypertrichosis syndrome": "ORPHA:2026", "CGHT": "ORPHA:2026", "Congenital generalized hypertrichosis terminalis": "ORPHA:2026", "Hirsutism-congenital gingival hyperplasia syndrome": "ORPHA:2026", "Hypertrichosis with or without gingival hyperplasia": "ORPHA:2026", "Gingival fibromatosis-facial dysmorphism syndrome": "ORPHA:2025", "Juvenile hyaline fibromatosis": "ORPHA:2028", "Murray-Puretic-Drescher syndrome": "ORPHA:2028", "Puretic syndrome": "ORPHA:2028", "Gingival fibromatosis-progressive deafness syndrome": "ORPHA:2027", "Gingival fibromatosis-progressive hearing loss syndrome": "ORPHA:2027", "Jones syndrome": "ORPHA:2027", "OBSOLETE: Classic mast cell leukemia": "ORPHA:158796", "Fibrochondrogenesis": "ORPHA:2021", "OBSOLETE: Aleukemic mast cell leukemia": "ORPHA:158799", "Femur-fibula-ulna complex": "ORPHA:2019", "FFU complex": "ORPHA:2019", "Femur-fibula-ulna dysostosis": "ORPHA:2019", "Femur-fibula-ulna syndrome": "ORPHA:2019", "Hereditary gingival fibromatosis": "ORPHA:2024", "Autosomal dominant gingival fibromatosis": "ORPHA:2024", "Autosomal dominant gingival hyperplasia": "ORPHA:2024", "Hereditary gingival hyperplasia": "ORPHA:2024", "Endocardial fibroelastosis": "ORPHA:2022", "Endomyocardial fibroelastosis": "ORPHA:2022", "Paraplegia-intellectual disability-hyperkeratosis syndrome": "ORPHA:2824", "Fitzsimmons-McLachlan-Gilbert syndrome": "ORPHA:2824", "FLOTCH syndrome": "ORPHA:2045", "Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome": "ORPHA:2045", "Floating-Harbor syndrome": "ORPHA:2044", "Hepatic fibrosis-renal cysts-intellectual disability syndrome": "ORPHA:2031", "Thompson-Baraitser syndrome": "ORPHA:2031", "Multiple non-ossifying fibromatosis": "ORPHA:2029", "Jaffe-Campanacci syndrome": "ORPHA:2029", "OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome": "ORPHA:2042", "Scalp-ear-nipple syndrome": "ORPHA:2036", "Finlay-Marks syndrome": "ORPHA:2036", "Plaque-form urticaria pigmentosa": "ORPHA:158769", "Median cleft lip/mandible": "ORPHA:2006", "Median cleft lower facial stage": "ORPHA:2006", "Median cleft of the lower lip and mandible": "ORPHA:2006", "Median mandibular cleft": "ORPHA:2006", "Typical urticaria pigmentosa": "ORPHA:158766", "Alar cartilages hypoplasia-coloboma-telecanthus syndrome": "ORPHA:2007", "Cleft lip/palate-deafness-sacral lipoma syndrome": "ORPHA:2003", "Cleft lip/palate-hearing loss-sacral lipoma syndrome": "ORPHA:2003", "Lowry-Yong syndrome": "ORPHA:2003", "Lethal acantholytic erosive disorder": "ORPHA:158687", "Epidermolysis bullosa simplex with pyloric atresia": "ORPHA:158684", "EBS with pyloric atresia": "ORPHA:158684", "EBS-PA": "ORPHA:158684", "Laryngotracheoesophageal cleft": "ORPHA:2004", "LC": "ORPHA:2004", "LTEC": "ORPHA:2004", "Laryngo-tracheo-esophageal cleft": "ORPHA:2004", "Laryngo-tracheo-esophageal diastema": "ORPHA:2004", "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome": "ORPHA:2001", "McPherson-Clemens syndrome": "ORPHA:2001", "Epidermolysis bullosa simplex with circinate migratory erythema": "ORPHA:158681", "EBS with circinate migratory erythema": "ORPHA:158681", "EBS-migr": "ORPHA:158681", "Localized dystrophic epidermolysis bullosa, nails only": "ORPHA:158676", "Localized DEB, nails only": "ORPHA:158676", "Localized dystrophic epidermolysis bullosa, acral form": "ORPHA:158673", "Localized DEB, acral form": "ORPHA:158673", "Ectodermal dysplasia-skin fragility syndrome": "ORPHA:158668", "McGrath syndrome": "ORPHA:158668", "Cleft palate-lateral synechia syndrome": "ORPHA:2016", "CPLS syndrome": "ORPHA:2016", "OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia": "ORPHA:158793", "Sternal cleft": "ORPHA:2017", "Cleft sternum": "ORPHA:2017", "Sternum bifidum": "ORPHA:2017", "Cleft palate-large ears-small head syndrome": "ORPHA:2013", "Say-Barber-Hobbs syndrome": "ORPHA:2013", "Cleft palate-stapes fixation-oligodontia syndrome": "ORPHA:2010", "Isolated bone marrow mastocytosis": "ORPHA:158778", "Smoldering systemic mastocytosis": "ORPHA:158775", "Nodular urticaria pigmentosa": "ORPHA:158772", "Acrocardiofacial syndrome": "ORPHA:2008", "ACFS": "ORPHA:2008", "CCGE syndrome": "ORPHA:2008", "Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome": "ORPHA:2008", "Isolated femoral agenesis/hypoplasia": "ORPHA:1987", "CFD": "ORPHA:1987", "CSF": "ORPHA:1987", "Isolated congenital femoral deficiency": "ORPHA:1987", "Isolated congenital short femur": "ORPHA:1987", "Isolated femoral intercalary meromelia": "ORPHA:1987", "Gollop-Wolfgang complex": "ORPHA:1986", "Bifid femur-monodactylous ectrodactyly syndrome": "ORPHA:1986", "Fechtner syndrome": "ORPHA:1984", "Alport syndrome with leukocyte inclusions and macrothrombocytopenia": "ORPHA:1984", "Bilateral striopallidodentate calcinosis": "ORPHA:1980", "BSPDC": "ORPHA:1980", "Cerebrovascular ferrocalcinosis": "ORPHA:1980", "Idiopathic basal ganglia calcification": "ORPHA:1980", "PFBC": "ORPHA:1980", "Primary familial brain calcification": "ORPHA:1980", "OBSOLETE: Suprabasal epidermolysis bullosa simplex": "ORPHA:158661", "OBSOLETE: Basal epidermolysis bullosa simplex": "ORPHA:158665", "Blepharo-cheilo-odontic syndrome": "ORPHA:1997", "BCD syndrome": "ORPHA:1997", "Blepharocheilodontic syndrome": "ORPHA:1997", "Clefting-ectropion-conical teeth syndrome": "ORPHA:1997", "Ectropion inferior-cleft lip and/or palate syndrome": "ORPHA:1997", "Elschnig syndrome": "ORPHA:1997", "Lagophthalmia-cleft lip and palate syndrome": "ORPHA:1997", "Cleft lip-retinopathy syndrome": "ORPHA:1995", "Ausems-Wittebol Post-Hennekam syndrome": "ORPHA:1995", "Cleft lip-cone rod dystrophy syndrome": "ORPHA:1995", "Cleft lip-progressive retinopathy syndrome": "ORPHA:1995", "Pai syndrome": "ORPHA:1993", "Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome": "ORPHA:1993", "Femoral-facial syndrome": "ORPHA:1988", "FFS": "ORPHA:1988", "FHUFS": "ORPHA:1988", "Femoral hypoplasia-unusual facies syndrome": "ORPHA:1988", "Familial partial lipodystrophy, Dunnigan type": "ORPHA:2348", "Dunnigan syndrome": "ORPHA:2348", "FPLD2": "ORPHA:2348", "Familial partial lipodystrophy type 2": "ORPHA:2348", "Mayer-Rokitansky-K\u00fcster-Hauser syndrome type 1": "ORPHA:247775", "Congenital absence of uterus and vagina": "ORPHA:247775", "MRKH syndrome type 1": "ORPHA:247775", "Rokitansky sequence": "ORPHA:247775", "Kousseff syndrome": "ORPHA:2351", "Sacral meningocele-conotruncal heart defects syndrome": "ORPHA:2351", "M\u00fcllerian aplasia and hyperandrogenism": "ORPHA:247768", "M\u00fcllerian duct failure and hyperandrogenism": "ORPHA:247768", "WNT4 deficiency": "ORPHA:247768", "Schilbach-Rott syndrome": "ORPHA:2353", "BRSS": "ORPHA:2353", "Hypotelorism-cleft palate-hypospadias syndrome": "ORPHA:2353", "FTH1-related iron overload": "ORPHA:247790", "FTH1-associated iron overload": "ORPHA:247790", "MUTYH-related attenuated familial adenomatous polyposis": "ORPHA:247798", "MUTYH-related AFAP": "ORPHA:247798", "MUTYH-related attenuated FAP": "ORPHA:247798", "MUTYH-related attenuated familial polyposis coli": "ORPHA:247798", "Kumar-Levick syndrome": "ORPHA:2355", "Nail dysplasia-camptodactyly-brachydactyly type B syndrome": "ORPHA:2355", "Juvenile cataract-microcornea-renal glucosuria syndrome": "ORPHA:247794", "Juvenile cataract-microcornea-renal glycosuria syndrome": "ORPHA:247794", "Autosomal recessive ataxia due to PEX10 deficiency": "ORPHA:247815", "Mild peroxisomal disorder due to PEX10 deficiency": "ORPHA:247815", "APC-related attenuated familial adenomatous polyposis": "ORPHA:247806", "APC-related AFAP": "ORPHA:247806", "APC-related attenuated FAP": "ORPHA:247806", "APC-related attenuated familial polyposis coli": "ORPHA:247806", "Lacrimoauriculodentodigital syndrome": "ORPHA:2363", "LADD syndrome": "ORPHA:2363", "LARD syndrome": "ORPHA:2363", "Lacrimoauriculoradiodental syndrome": "ORPHA:2363", "Levy-Hollister syndrome": "ORPHA:2363", "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations": "ORPHA:247691", "RVCL": "ORPHA:247691", "RVCL-S": "ORPHA:247691", "Retinal vasculopathy and cerebral leukoencephalopathy": "ORPHA:247691", "Keratosis follicularis spinulosa decalvans": "ORPHA:2340", "Odontohypophosphatasia": "ORPHA:247685", "Haim-Munk syndrome": "ORPHA:2342", "Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome": "ORPHA:2342", "Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome": "ORPHA:2342", "Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome": "ORPHA:2342", "Multiple endocrine neoplasia type 2B": "ORPHA:247709", "MEN2B": "ORPHA:247709", "Multiple endocrine neoplasia type 3": "ORPHA:247709", "Wagenmann-Froboese syndrome": "ORPHA:247709", "Multiple endocrine neoplasia type 2A": "ORPHA:247698", "MEN2A": "ORPHA:247698", "PTC syndrome": "ORPHA:247698", "Sipple syndrome": "ORPHA:247698", "Idiopathic eosinophilic myositis": "ORPHA:247724", "Idiopathic eosinophilia-associated myopathy": "ORPHA:247724", "Inflammatory myopathy with abundant macrophages": "ORPHA:247718", "IMAM": "ORPHA:247718", "X-linked cerebellar ataxia": "ORPHA:247765", "Kniest dysplasia": "ORPHA:485", "Lipoblastoma": "ORPHA:247762", "Lethal Kniest-like dysplasia": "ORPHA:2347", "Citrullinemia type II": "ORPHA:247585", "Adult-onset citrin deficiency": "ORPHA:247585", "Adult-onset citrullinemia type 2": "ORPHA:247585", "Adult-onset citrullinemia type II": "ORPHA:247585", "CTLN2": "ORPHA:247585", "Citrullinemia type 2": "ORPHA:247585", "Kenny-Caffey syndrome": "ORPHA:2333", "Kenny syndrome": "ORPHA:2333", "Neonatal intrahepatic cholestasis due to citrin deficiency": "ORPHA:247598", "NICCD": "ORPHA:247598", "Neonatal intrahepatic cholestasis caused by citrin deficiency": "ORPHA:247598", "KBG syndrome": "ORPHA:2332", "ANKRD11-related disorder": "ORPHA:2332", "Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome": "ORPHA:2332", "Juvenile primary lateral sclerosis": "ORPHA:247604", "JPLS": "ORPHA:247604", "Juvenile PLS": "ORPHA:247604", "Perinatal lethal hypophosphatasia": "ORPHA:247623", "Perinatal lethal Rathbun disease": "ORPHA:247623", "Perinatal lethal phosphoethanolaminuria": "ORPHA:247623", "NON RARE IN EUROPE: Isolated keratoconus": "ORPHA:2335", "Prenatal benign hypophosphatasia": "ORPHA:247638", "Prenatal benign Rathbun disease": "ORPHA:247638", "Prenatal benign phosphoethanolaminuria": "ORPHA:247638", "Isolated punctate palmoplantar keratoderma": "ORPHA:2338", "Isolated punctate PPK": "ORPHA:2338", "Isolated punctate palmoplantar hyperkeratosis": "ORPHA:2338", "Diffuse palmoplantar keratoderma, Bothnian type": "ORPHA:2337", "Diffuse palmoplantar keratoderma, Bothnia type": "ORPHA:2337", "NEPPK, Bothnia type": "ORPHA:2337", "NEPPK, Bothnian type": "ORPHA:2337", "Infantile hypophosphatasia": "ORPHA:247651", "Infantile Rathbun disease": "ORPHA:247651", "Infantile phosphoethanolaminuria": "ORPHA:247651", "Childhood-onset hypophosphatasia": "ORPHA:247667", "Childhood-onset Rathbun disease": "ORPHA:247667", "Childhood-onset phosphoethanolaminuria": "ORPHA:247667", "Keratosis follicularis-dwarfism-cerebral atrophy syndrome": "ORPHA:2339", "Adult hypophosphatasia": "ORPHA:247676", "Adult Rathbun disease": "ORPHA:247676", "Adult phosphoethanolaminuria": "ORPHA:247676", "Keratoderma hereditarium mutilans": "ORPHA:494", "Mutilating keratoderma of Vohwinkel": "ORPHA:494", "Mutilating keratoderma plus deafness": "ORPHA:494", "Mutilating keratoderma plus hearing loss": "ORPHA:494", "PPK mutilans and deafness": "ORPHA:494", "PPK mutilans and hearing loss": "ORPHA:494", "Vohwinkel syndrome": "ORPHA:494", "Kabuki syndrome": "ORPHA:2322", "Kabuki make-up syndrome": "ORPHA:2322", "Niikawa-Kuroki syndrome": "ORPHA:2322", "Autosomal recessive secondary polycythemia not associated with VHL gene": "ORPHA:247378", "Autosomal recessive secondary erythrocytosis not associated with VHL gene": "ORPHA:247378", "Autosomal recessive secondary erythrocytosis, non-Chuvash type": "ORPHA:247378", "Autosomal recessive secondary polycythemia, non-Chuvash type": "ORPHA:247378", "Jung syndrome": "ORPHA:2321", "Osteopenia-intellectual disability-sparse hair syndrome": "ORPHA:2324", "Kaler-Garrity-Stern syndrome": "ORPHA:2324", "Autosomal dominant secondary polycythemia": "ORPHA:247511", "Autosomal dominant secondary erythrocytosis": "ORPHA:247511", "Sanjad-Sakati syndrome": "ORPHA:2323", "HRD syndrome": "ORPHA:2323", "Hypoparathyroidism-intellectual disability-dysmorphism syndrome": "ORPHA:2323", "Hypoparathyroidism-short stature-intellectual disability-seizures syndrome": "ORPHA:2323", "Richardson-Kirk syndrome": "ORPHA:2323", "SSS": "ORPHA:2323", "Primary ciliary dyskinesia-retinitis pigmentosa syndrome": "ORPHA:247522", "Citrullinemia type I": "ORPHA:247525", "ASS deficiency": "ORPHA:247525", "Argininosuccinate synthase deficiency": "ORPHA:247525", "Argininosuccinate synthetase deficiency": "ORPHA:247525", "Argininosuccinic acid synthase deficiency": "ORPHA:247525", "Argininosuccinic acid synthetase deficiency": "ORPHA:247525", "CTLN1": "ORPHA:247525", "Citrullinemia type 1": "ORPHA:247525", "Classic citrullinemia": "ORPHA:247525", "Acute neonatal citrullinemia type I": "ORPHA:247546", "Acute neonatal citrullinemia type 1": "ORPHA:247546", "Early-onset citrullinemia type 1": "ORPHA:247546", "Early-onset citrullinemia type I": "ORPHA:247546", "Epidermolysis bullosa simplex with anodontia/hypodontia": "ORPHA:2325", "EBS with anodontia/hypodontia": "ORPHA:2325", "Kallin syndrome": "ORPHA:2325", "Late-onset citrullinemia type I": "ORPHA:247573", "Late-onset citrullinemia type 1": "ORPHA:247573", "Karsch-Neugebauer syndrome": "ORPHA:2329", "Split hand/split foot-nystagmus syndrome": "ORPHA:2329", "Citrin deficiency": "ORPHA:247582", "Kapur-Toriello syndrome": "ORPHA:2328", "Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome": "ORPHA:2328", "Rare thrombotic disorder due to an acquired platelet anomaly": "ORPHA:248404", "Lowe-Kohn-Cohen syndrome": "ORPHA:2408", "Deafness-nephritis-ano-rectal malformation syndrome": "ORPHA:2408", "Hearing loss-nephritis-ano-rectal malformation syndrome": "ORPHA:2408", "Rare thrombotic disorder due to a constitutional platelet anomaly": "ORPHA:248401", "Lowry-MacLean syndrome": "ORPHA:2409", "Thickened earlobes-conductive deafness syndrome": "ORPHA:2405", "Escher-Hirt syndrome": "ORPHA:2405", "Thickened earlobes-conductive hearing loss syndrome": "ORPHA:2405", "Rare thrombotic disorder due to a platelet anomaly": "ORPHA:248368", "Rare thrombotic disorder due to an acquired coagulation factors defect": "ORPHA:248365", "Laryngo-onycho-cutaneous syndrome": "ORPHA:2407", "LOC syndrome": "ORPHA:2407", "LOGIC syndrome": "ORPHA:2407", "Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome": "ORPHA:2407", "Shabbir syndrome": "ORPHA:2407", "Genetic polycythemia": "ORPHA:250165", "Dislocation of the hip-dysmorphism syndrome": "ORPHA:2412", "Collins-Pope syndrome": "ORPHA:2412", "Cystic fibrosis-gastritis-megaloblastic anemia syndrome": "ORPHA:2575", "Lubani-Al Saleh-Teebi syndrome": "ORPHA:2575", "Familial hypodysfibrinogenemia": "ORPHA:248408", "Hypergonadotropic hypogonadism-cataract syndrome": "ORPHA:2410", "Lubinsky syndrome": "ORPHA:2410", "Rare hemorrhagic disorder due to a platelet anomaly": "ORPHA:248326", "Rare bleeding disorder due to a platelet anomaly": "ORPHA:248326", "Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia": "ORPHA:248326", "Rare coagulopathy due to a platelet anomaly": "ORPHA:248326", "Rare coagulopathy due to a thrombopathy and/or thrombocytopenia": "ORPHA:248326", "Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia": "ORPHA:248326", "Nasopalpebral lipoma-coloboma syndrome": "ORPHA:2399", "Rare hemorrhagic disorder due to a coagulation factors defect": "ORPHA:248315", "Rare bleeding disorder due to a coagulation factors defect": "ORPHA:248315", "Rare coagulopathy due to a coagulation factor defect": "ORPHA:248315", "Peripheral motor neuropathy-dysautonomia syndrome": "ORPHA:2400", "Lisker-Garcia-Ramos syndrome": "ORPHA:2400", "Rare hemorrhagic disorder": "ORPHA:248308", "Rare bleeding disorder": "ORPHA:248308", "OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency": "ORPHA:248305", "Encephalocraniocutaneous lipomatosis": "ORPHA:2396", "Haberland syndrome": "ORPHA:2396", "Rare thrombotic disorder due to a constitutional coagulation factors defect": "ORPHA:248361", "Rare thrombotic disorder due to a coagulation factors defect": "ORPHA:248358", "Rare hemorrhagic disorder due to an acquired platelet anomaly": "ORPHA:248347", "Rare bleeding disorder due to an acquired platelet anomaly": "ORPHA:248347", "Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia": "ORPHA:248347", "Rare coagulopathy due to an acquired platelet anomaly": "ORPHA:248347", "Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia": "ORPHA:248347", "Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia": "ORPHA:248347", "Isolated delta-storage pool disease": "ORPHA:248340", "Isolated delta-SPD": "ORPHA:248340", "Isolated dense-SPD": "ORPHA:248340", "Isolated dense-storage pool disease": "ORPHA:248340", "Choreoacanthocytosis": "ORPHA:2388", "ChAc": "ORPHA:2388", "Chorea-acanthocytosis": "ORPHA:2388", "Levine-Critchley syndrome": "ORPHA:2388", "Juvenile Huntington disease": "ORPHA:248111", "JHD": "ORPHA:248111", "Juvenile Huntington chorea": "ORPHA:248111", "Leukonychia totalis": "ORPHA:2387", "OBSOLETE: Vitiligo-associated autoimmune disease": "ORPHA:247871", "Leukoencephalopathy-palmoplantar keratoderma syndrome": "ORPHA:2386", "Primary hypertrophic osteoarthropathy": "ORPHA:248095", "Idiopathic hypertrophic osteoarthropathy": "ORPHA:248095", "PHO": "ORPHA:248095", "Early-onset parkinsonism-intellectual disability syndrome": "ORPHA:2379", "Laxova-Opitz syndrome": "ORPHA:2379", "Waisman syndrome": "ORPHA:2379", "Rare acquired deficiency anemia": "ORPHA:248302", "Congenitally short costocoracoid ligament": "ORPHA:2391", "Rare deficiency anemia": "ORPHA:248293", "Lichtenstein syndrome": "ORPHA:2390", "Constitutional deficiency anemia": "ORPHA:248296", "Lewis-Pashayan syndrome": "ORPHA:2389", "Cleft lip/palate-ectrodactyly syndrome": "ORPHA:2389", "Occult macular dystrophy": "ORPHA:247834", "OCMD": "ORPHA:247834", "OMD": "ORPHA:247834", "Lethal Larsen-like syndrome": "ORPHA:2371", "OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies": "ORPHA:247839", "OBSOLETE: Oligoarticular JIA with anti-nuclear antibodies": "ORPHA:247839", "OBSOLETE: Pauciarticular chronic arthritis with anti-nuclear antibodies": "ORPHA:247839", "Limb body wall complex": "ORPHA:2369", "Body stalk anomaly": "ORPHA:2369", "LBWC syndrome": "ORPHA:2369", "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome": "ORPHA:247820", "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome": "ORPHA:247827", "OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies": "ORPHA:247861", "OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies": "ORPHA:247861", "OBSOLETE: Polyarthritis without rheumatoid factor without anti-nuclear antibodies": "ORPHA:247861", "OBSOLETE: Rheumatoid factor-negative JIA without anti-nuclear antibodies": "ORPHA:247861", "Laurin-Sandrow syndrome": "ORPHA:2378", "Mirror hands and feets-nasal defects syndrome": "ORPHA:2378", "Sandrow syndrome": "ORPHA:2378", "NLRP12-associated hereditary periodic fever syndrome": "ORPHA:247868", "FCAS2": "ORPHA:247868", "Familial cold autoinflammatory syndrome type 2": "ORPHA:247868", "NAPS12": "ORPHA:247868", "OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies": "ORPHA:247846", "OBSOLETE: Oligoarticular JIA without anti-nuclear antibodies": "ORPHA:247846", "OBSOLETE: Pauciarticular chronic arthritis without anti-nuclear antibodies": "ORPHA:247846", "Laryngeal abductor paralysis-intellectual disability syndrome": "ORPHA:2375", "Plott syndrome": "ORPHA:2375", "OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies": "ORPHA:247854", "OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies": "ORPHA:247854", "OBSOLETE: Polyarthritis without rheumatoid factor with anti-nuclear antibodies": "ORPHA:247854", "OBSOLETE: Rheumatoid factor-negative JIA with anti-nuclear antibodies": "ORPHA:247854", "OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome": "ORPHA:2454", "OBSOLETE: Stalker-Chitayat syndrome": "ORPHA:2454", "Familial supernumerary nipples": "ORPHA:2456", "Isolated polythelia": "ORPHA:2456", "Mandibuloacral dysplasia": "ORPHA:2457", "MAD": "ORPHA:2457", "Mucocutaneous venous malformations": "ORPHA:2451", "Cutaneous and mucosal venous malformation": "ORPHA:2451", "VMCM": "ORPHA:2451", "Malpuech syndrome": "ORPHA:2453", "3MC3 syndrome": "ORPHA:2453", "Malpuech facial clefting syndrome": "ORPHA:2453", "Patterson-Stevenson-Fontaine syndrome": "ORPHA:2439", "Patterson-Stevenson syndrome": "ORPHA:2439", "Split foot deformity-mandibulofacial dysostosis syndrome": "ORPHA:2439", "Dominant hypophosphatemia with nephrolithiasis or osteoporosis": "ORPHA:244305", "Biliary atresia with splenic malformation syndrome": "ORPHA:244283", "BASM syndrome": "ORPHA:244283", "Isolated split hand-split foot malformation": "ORPHA:2440", "Ectrodactyly": "ORPHA:2440", "SHFM": "ORPHA:2440", "Split hand foot malformation": "ORPHA:2440", "RFT1-CDG": "ORPHA:244310", "CDG syndrome type In": "ORPHA:244310", "CDG-In": "ORPHA:244310", "CDG1N": "ORPHA:244310", "Carbohydrate deficient glycoprotein syndrome type In": "ORPHA:244310", "Congenital disorder of glycosylation type 1n": "ORPHA:244310", "Congenital disorder of glycosylation type In": "ORPHA:244310", "Man5GlcNAc2-PP-Dol flippase deficiency": "ORPHA:244310", "HELLP syndrome": "ORPHA:244242", "Hemolysis, elevated liver enzymes, low platelets in pregnancy": "ORPHA:244242", "Hemolysis-elevated liver enzymes-low platelets syndrome": "ORPHA:244242", "Ollier disease": "ORPHA:296", "Enchondromatosis Spranger type I": "ORPHA:296", "Multiple Enchondromatosis type I": "ORPHA:296", "Multiple Enchondromatosis, Ollier type": "ORPHA:296", "Czeizel-Losonci syndrome": "ORPHA:2437", "Split hand with obstructive uropathy, spina bifida and diaphragmatic defects": "ORPHA:2437", "Split hand-urinary anomalies-spina bifida syndrome": "ORPHA:2437", "De novo thrombotic microangiopathy after kidney transplantation": "ORPHA:244275", "Hand-foot-genital syndrome": "ORPHA:2438", "HFGS": "ORPHA:2438", "Hand-foot-uterus syndrome": "ORPHA:2438", "Dimethylglycine dehydrogenase deficiency": "ORPHA:243343", "DMG dehydrogenase deficiency": "ORPHA:243343", "DMGDH deficiency": "ORPHA:243343", "Epstein syndrome": "ORPHA:1019", "Alport syndrome with macrothrombocytopenia": "ORPHA:1019", "Acute fatty liver of pregnancy": "ORPHA:243367", "AFLP": "ORPHA:243367", "NON RARE IN EUROPE: Diabetes mellitus type 1": "ORPHA:243377", "NON RARE IN EUROPE: Insulin-dependent diabetes mellitus": "ORPHA:243377", "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome": "ORPHA:2435", "Westerhof-Beemer-Cormane syndrome": "ORPHA:2435", "NON RARE IN EUROPE: Essential hypertension": "ORPHA:243761", "Macrocephaly-spastic paraplegia-dysmorphism syndrome": "ORPHA:2429", "Fryns macrocephaly": "ORPHA:2429", "Macrosomia-microphthalmia-cleft palate syndrome": "ORPHA:2432", "Teebi-Al Saleh-Hassoon syndrome": "ORPHA:2432", "Lymphedema-ptosis syndrome": "ORPHA:2419", "Upper limb defect-eye and ear abnormalities syndrome": "ORPHA:2489", "Generalized pustular psoriasis": "ORPHA:247353", "GPP": "ORPHA:247353", "Hyperphosphatasia-intellectual disability syndrome": "ORPHA:247262", "Mabry syndrome": "ORPHA:247262", "Lower limb malformation-hypospadias syndrome": "ORPHA:2487", "Fried-Goldberg-Mundel syndrome": "ORPHA:2487", "Inhalational anthrax": "ORPHA:247257", "Inhalation anthrax disease": "ORPHA:247257", "Pulmonary anthrax": "ORPHA:247257", "Respiratory anthrax": "ORPHA:247257", "Respiratory anthrax disease": "ORPHA:247257", "Superficial siderosis": "ORPHA:247245", "Hemosiderosis of the central nervous system": "ORPHA:247245", "Superficial hemosiderosis of the CNS": "ORPHA:247245", "Superficial hemosiderosis of the central nervous system": "ORPHA:247245", "Superficial siderosis of the CNS": "ORPHA:247245", "Superficial siderosis of the central nervous system": "ORPHA:247245", "Acquired ataxia": "ORPHA:247242", "Melorheostosis": "ORPHA:2485", "Transverse limb deficiency-hemangioma syndrome": "ORPHA:2486", "Non-hereditary degenerative ataxia": "ORPHA:247239", "Sporadic adult-onset ataxia of unknown etiology": "ORPHA:247234", "Idiopathic late-onset cerebellar ataxia": "ORPHA:247234", "SAOA": "ORPHA:247234", "Melkersson-Rosenthal syndrome": "ORPHA:2483", "Collecting duct carcinoma": "ORPHA:247203", "BDC": "ORPHA:247203", "Bellini carcinoma": "ORPHA:247203", "Bellini duct carcinoma": "ORPHA:247203", "CDC": "ORPHA:247203", "Melnick-Needles syndrome": "ORPHA:2484", "Melnick-Needles osteodysplasty": "ORPHA:2484", "Progressive cerebello-cerebral atrophy": "ORPHA:247198", "PCCA": "ORPHA:247198", "Neurocutaneous melanocytosis": "ORPHA:2481", "NCM": "ORPHA:2481", "Neurocutaneous melanosis": "ORPHA:2481", "Melhem-Fahl syndrome": "ORPHA:2482", "Infantile mercury poisoning": "ORPHA:247165", "Erythroedema polyneuritis": "ORPHA:247165", "Feer disease": "ORPHA:247165", "Infantile acrodynia": "ORPHA:247165", "Infantile mercury intoxication": "ORPHA:247165", "Pink disease": "ORPHA:247165", "Swift disease": "ORPHA:247165", "Swift-Feer disease": "ORPHA:247165", "Megalencephaly": "ORPHA:2477", "Macroencephaly": "ORPHA:2477", "Megalocornea-intellectual disability syndrome": "ORPHA:2479", "MMR syndrome": "ORPHA:2479", "Neuh\u00e4user syndrome": "ORPHA:2479", "White forelock with malformations": "ORPHA:2475", "Dysraphism-cleft lip/palate-limb reduction defects syndrome": "ORPHA:2476", "Medeira-Dennis-Donnai syndrome": "ORPHA:2476", "OBSOLETE: McLain-Dekaban syndrome": "ORPHA:2474", "OBSOLETE: Intellectual disability-coloboma-slimness syndrome": "ORPHA:2474", "McKusick-Kaufman syndrome": "ORPHA:2473", "Hydrometrocolpos-postaxial polydactyly syndrome": "ORPHA:2473", "Kaufman-Mckusick syndrome": "ORPHA:2473", "McDonough syndrome": "ORPHA:2471", "Matthew-Wood syndrome": "ORPHA:2470", "Anophthalmia-pulmonary hypoplasia syndrome": "ORPHA:2470", "PDAC syndrome": "ORPHA:2470", "Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome": "ORPHA:2470", "Spear syndrome": "ORPHA:2470", "Marshall-Smith syndrome": "ORPHA:561", "Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome": "ORPHA:561", "Marfanoid syndrome, De Silva type": "ORPHA:2464", "Marinesco-Sj\u00f6gren syndrome": "ORPHA:559", "Marfanoid habitus-autosomal recessive intellectual disability syndrome": "ORPHA:2463", "Fragoso-Cant\u00fa syndrome": "ORPHA:2463", "Shprintzen-Goldberg syndrome": "ORPHA:2462", "Marfanoid craniosynostosis syndrome": "ORPHA:2462", "SGS": "ORPHA:798", "Marden-Walker syndrome": "ORPHA:2461", "Anaplastic oligodendroglioma": "ORPHA:251630", "Microcephaly-glomerulonephritis-marfanoid habitus syndrome": "ORPHA:2172", "OBSOLETE: Low-grade ependymoma": "ORPHA:251633", "Ependymoma": "ORPHA:251636", "Classic ependymoma": "ORPHA:251636", "Hunter-Carpenter-McDonald syndrome": "ORPHA:2174", "Subependymoma": "ORPHA:251639", "Infantile systemic hyalinosis": "ORPHA:2176", "Myxopapillary ependymoma": "ORPHA:251643", "Anaplastic ependymoma": "ORPHA:251646", "Oligoastrocytic tumor": "ORPHA:251651", "Mixed oligodendroglial and astrocytic tumor": "ORPHA:251651", "Hydrocephaly-tall stature-joint laxity syndrome": "ORPHA:2181", "Daish-Hardman-Lamont syndrome": "ORPHA:2181", "Oligoastrocytoma": "ORPHA:251656", "MOA": "ORPHA:251656", "Mixed oligoastrocytoma": "ORPHA:251656", "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome": "ORPHA:2180", "Ferlini-Ragno-Calzolari syndrome": "ORPHA:2180", "Waaler-Aarskog syndrome": "ORPHA:2180", "Anaplastic oligoastrocytoma": "ORPHA:251663", "aMOA": "ORPHA:251663", "Hydrocephalus-blue sclerae-nephropathy syndrome": "ORPHA:2186", "Daentl-Townsend-Siegel syndrome": "ORPHA:2186", "Glial tumor of neuroepithelial tissue with unknown origin": "ORPHA:251668", "Angiocentric glioma": "ORPHA:251671", "Hydrolethalus": "ORPHA:2189", "Chordoid glioma": "ORPHA:251674", "Astroblastoma": "ORPHA:251679", "OBSOLETE: Congenital hydronephrosis": "ORPHA:2190", "Autosomal dominant epidermolytic ichthyosis": "ORPHA:312", "BCIE": "ORPHA:312", "Bullous congenital ichthyosiform erythroderma": "ORPHA:312", "Bullous congenital ichthyosiform erythroderma of Brock": "ORPHA:312", "Bullous ichthyosis": "ORPHA:312", "EHK": "ORPHA:312", "EI": "ORPHA:312", "Epidermolytic hyperkeratosis": "ORPHA:312", "Ichthyosis hystrix Brocq type": "ORPHA:312", "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement": "ORPHA:2196", "FHHNC with severe ocular involvement": "ORPHA:2196", "Hypercalciuria-bilateral macular coloboma syndrome": "ORPHA:2196", "Meier-Blumberg-Imahorn syndrome": "ORPHA:2196", "Embryonal tumor of neuroepithelial tissue": "ORPHA:251852", "Gliosarcoma": "ORPHA:251576", "NON RARE IN EUROPE: Hidradenitis suppurativa": "ORPHA:387", "NON RARE IN EUROPE: Acne inversa": "ORPHA:387", "NON RARE IN EUROPE: Ectopic acne": "ORPHA:387", "NON RARE IN EUROPE: Fox den disease": "ORPHA:387", "NON RARE IN EUROPE: Pyoderma fistulans significa": "ORPHA:387", "NON RARE IN EUROPE: Verneuil disease": "ORPHA:387", "High-grade astrocytoma": "ORPHA:251561", "Hirschsprung disease-type D brachydactyly syndrome": "ORPHA:2150", "Gliomatosis cerebri": "ORPHA:251582", "Giant cell glioblastoma": "ORPHA:251579", "Mowat-Wilson syndrome": "ORPHA:2152", "Hirschsprung disease-intellectual disability syndrome": "ORPHA:2152", "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome": "ORPHA:2153", "Al Gazali-Donnai-Muller syndrome": "ORPHA:2153", "Low-grade astrocytoma": "ORPHA:251592", "Anaplastic astrocytoma": "ORPHA:251589", "Protoplasmic astrocytoma": "ORPHA:251598", "Hirschsprung disease-deafness-polydactyly syndrome": "ORPHA:2155", "Hirschsprung disease-hearing loss-polydactyly syndrome": "ORPHA:2155", "Santos-Mateus-Leal syndrome": "ORPHA:2155", "Diffuse astrocytoma": "ORPHA:251595", "OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome": "ORPHA:2156", "OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome": "ORPHA:2156", "Gemistocytic astrocytoma": "ORPHA:251604", "Fibrillary astrocytoma": "ORPHA:251601", "Histidinuria-renal tubular defect syndrome": "ORPHA:2158", "Pilocytic astrocytoma": "ORPHA:251612", "Holoprosencephaly-craniosynostosis syndrome": "ORPHA:2163", "Camero-Lituania-Cohen syndrome": "ORPHA:2163", "Genoa syndrome": "ORPHA:2163", "Pleomorphic xanthoastrocytoma": "ORPHA:251607", "PXA": "ORPHA:251607", "Subependymal giant cell astrocytoma": "ORPHA:251618", "SEGA": "ORPHA:251618", "Holoprosencephaly-caudal dysgenesis syndrome": "ORPHA:2165", "Pilomyxoid astrocytoma": "ORPHA:251615", "Holoprosencephaly-postaxial polydactyly syndrome": "ORPHA:2166", "Pseudo-trisomy 13 syndrome": "ORPHA:2166", "Oligodendroglioma": "ORPHA:251627", "Holzgreve syndrome": "ORPHA:2167", "Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome": "ORPHA:2167", "Holzgreve-Wagner-Rehder syndrome": "ORPHA:2167", "Pituicytoma": "ORPHA:251623", "Methylcobalamin deficiency type cblE": "ORPHA:2169", "Functional methionine synthase deficiency type cblE": "ORPHA:2169", "Extraventricular neurocytoma": "ORPHA:251927", "EVN": "ORPHA:251927", "Cerebellar liponeurocytoma": "ORPHA:251931", "Hypertrichosis lanuginosa congenita": "ORPHA:2222", "Hypertrichosis universalis": "ORPHA:2222", "Pineal parenchymal tumor of intermediate differentiation": "ORPHA:251919", "Hypertrichosis cubiti": "ORPHA:2220", "Hairy elbows syndrome": "ORPHA:2220", "MacDermot-Patton-Williams syndrome": "ORPHA:2220", "Neuronal tumor": "ORPHA:251924", "Ramos-Arroyo syndrome": "ORPHA:1051", "Corneal anesthesia-deafness-intellectual disability syndrome": "ORPHA:1051", "Corneal anesthesia-hearing loss-intellectual disability syndrome": "ORPHA:1051", "Desmoplastic infantile astrocytoma/ganglioglioma": "ORPHA:251940", "DIA/DIG": "ORPHA:251940", "Dysembryoplastic neuroepithelial tumor": "ORPHA:251946", "DNET": "ORPHA:251946", "Hypodontia-dysplasia of nails syndrome": "ORPHA:2228", "Hypodontia-nail dysgenesis syndrome": "ORPHA:2228", "Tooth and nail syndrome": "ORPHA:2228", "Witkop syndrome": "ORPHA:2228", "NON RARE IN EUROPE: Hypodontia": "ORPHA:2227", "NON RARE IN EUROPE: Tooth agenesis": "ORPHA:2227", "Mixed neuronal-glial tumor": "ORPHA:251934", "Hypertryptophanemia": "ORPHA:2224", "Gangliocytoma": "ORPHA:251937", "Primary hypergonadotropic hypogonadism-partial alopecia syndrome": "ORPHA:2232", "Al Awadi-Farag-Teebi syndrome": "ORPHA:2232", "Papillary glioneuronal tumor": "ORPHA:251962", "PGNT": "ORPHA:251962", "Pseudopapillary ganglioglioneurocytoma": "ORPHA:251962", "Pseudopapillary neurocytoma with glial differentiation": "ORPHA:251962", "Rosette-forming glioneuronal tumor": "ORPHA:251975", "RGNT": "ORPHA:251975", "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome": "ORPHA:2230", "Salti-Salem syndrome": "ORPHA:2230", "Ganglioglioma": "ORPHA:251949", "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome": "ORPHA:2229", "Cardiogenital syndrome": "ORPHA:2229", "Malouf syndrome": "ORPHA:2229", "Najjar syndrome": "ORPHA:2229", "Anaplastic ganglioglioma": "ORPHA:251957", "Yolk sac tumor of central nervous system": "ORPHA:252006", "Endodermal sinus tumor of CNS": "ORPHA:252006", "Endodermal sinus tumor of central nervous system": "ORPHA:252006", "Intracranial endodermal sinus tumor": "ORPHA:252006", "Intracranial yolk sac tumor": "ORPHA:252006", "Yolk sac tumor of CNS": "ORPHA:252006", "Familial isolated hypoparathyroidism": "ORPHA:2238", "Choriocarcinoma of the central nervous system": "ORPHA:252015", "Hypoparathyroidism-sensorineural deafness-renal disease syndrome": "ORPHA:2237", "Barakat syndrome": "ORPHA:2237", "HDR syndrome": "ORPHA:2237", "Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome": "ORPHA:2237", "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome": "ORPHA:2235", "Chang-Davidson-Carlson syndrome": "ORPHA:2235", "Ganglioneuroma": "ORPHA:251992", "Primary germ cell tumor of central nervous system": "ORPHA:251995", "Primary germ cell tumor of CNS": "ORPHA:251995", "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome": "ORPHA:2234", "Sohval-Soffer syndrome": "ORPHA:2234", "Classic medulloblastoma": "ORPHA:251867", "Epidermolytic palmoplantar keratoderma": "ORPHA:2199", "Diffuse erythrodermic palmoplantar keratoderma, Voerner type": "ORPHA:2199", "Diffuse erythrodermic palmoplantar keratoderma, V\u00f6rner type": "ORPHA:2199", "EPPK": "ORPHA:2199", "Epidermolytic palmoplantar keratoderma of Voerner": "ORPHA:2199", "Epidermolytic palmoplantar keratoderma of V\u00f6rner": "ORPHA:2199", "Desmoplastic/nodular medulloblastoma": "ORPHA:251863", "Focal palmoplantar and gingival keratoderma": "ORPHA:2200", "Focal palmoplantar and gingival hyperkeratosis": "ORPHA:2200", "Palmoplantar keratoderma-esophageal carcinoma syndrome": "ORPHA:2198", "Bennion-Patterson syndrome": "ORPHA:2198", "Howell-Evans syndrome": "ORPHA:2198", "Keratosis palmoplantaris-esophageal carcinoma syndrome": "ORPHA:2198", "Palmoplantar hyperkeratosis-esophageal carcinoma syndrome": "ORPHA:2198", "Tylosis-oesophageal carcinoma syndrome": "ORPHA:2198", "Medulloblastoma with extensive nodularity": "ORPHA:251858", "MBEN": "ORPHA:251858", "Transgrediens et progrediens palmoplantar keratoderma": "ORPHA:495", "Greither disease": "ORPHA:495", "Keratosis extremitatum hereditaria progrediens": "ORPHA:495", "Keratosis palmoplantaris transgrediens et progrediens": "ORPHA:495", "Progressive diffuse PPK": "ORPHA:495", "Progressive diffuse palmoplantar keratoderma": "ORPHA:495", "Transgrediens et progrediens PPK": "ORPHA:495", "Anaplastic/large cell medulloblastoma": "ORPHA:251855", "Medulloepithelioma of the central nervous system": "ORPHA:251883", "Ankylosing vertebral hyperostosis with tylosis": "ORPHA:2206", "Ependymoblastoma": "ORPHA:251880", "Palmoplantar keratoderma-spastic paralysis syndrome": "ORPHA:2201", "Palmoplantar hyperkeratosis-spastic paralysis syndrome": "ORPHA:2201", "Powell-Venencie-Gordon syndrome": "ORPHA:2201", "Ganglioneuroblastoma": "ORPHA:251877", "Palmoplantar keratoderma-deafness syndrome": "ORPHA:2202", "PPK-deafness syndrome": "ORPHA:2202", "Palmoplantar hyperkeratosis-deafness syndrome": "ORPHA:2202", "Palmoplantar hyperkeratosis-hearing loss syndrome": "ORPHA:2202", "Palmoplantar keratoderma-hearing loss syndrome": "ORPHA:2202", "Central nervous system embryonal tumor": "ORPHA:251870", "CNS PNET": "ORPHA:251870", "Central nervous system primitive neuroectodermal tumor": "ORPHA:251870", "Atypical papilloma of choroid plexus": "ORPHA:251902", "Atypical CPP": "ORPHA:251902", "Atypical choroid plexus papilloma": "ORPHA:251902", "Choroid plexus carcinoma": "ORPHA:251899", "Hypertelorism-microtia-facial clefting syndrome": "ORPHA:2213", "Bixler-Christian-Gorlin syndrome": "ORPHA:2213", "HMC syndrome": "ORPHA:2213", "Choroid plexus tumor": "ORPHA:251896", "OBSOLETE: Atypical teratoid/rhabdoid tumor": "ORPHA:251891", "OBSOLETE: AT/RT": "ORPHA:251891", "Hypertelorism-hypospadias-polysyndactyly syndrome": "ORPHA:2211", "Acrofrontofacionasal dysostosis type 2": "ORPHA:2211", "Acrofrontofacionasal syndrome type 2": "ORPHA:2211", "Naguib-Richieri-Costa syndrome": "ORPHA:2211", "Papillary tumor of the pineal region": "ORPHA:251915", "PTPR": "ORPHA:251915", "Pineocytoma": "ORPHA:251912", "Cervical hypertrichosis-peripheral neuropathy syndrome": "ORPHA:2218", "Pineoblastoma": "ORPHA:251909", "Multiple pterygium-malignant hyperthermia syndrome": "ORPHA:2215", "Froster-Iskenius-Waterson-Hall syndrome": "ORPHA:2215", "Malignant hyperthermia-arthrogryposis-torticollis syndrome": "ORPHA:2215", "Pineal tumor of neuroepithelial tissue": "ORPHA:251905", "Maternal hyperthermia-induced birth defects": "ORPHA:2216", "2q32q33 microdeletion syndrome": "ORPHA:251019", "Del(2)(q32)": "ORPHA:251019", "Del(2)(q32q33)": "ORPHA:251019", "Monosomy 2q32": "ORPHA:251019", "Monosomy 2q32q33": "ORPHA:251019", "Hypotrichosis-intellectual disability, Lopes type": "ORPHA:2266", "Lopes-Marques de Faria syndrome": "ORPHA:2266", "SATB2-associated syndrome due to a chromosomal rearrangement": "ORPHA:251028", "2q33.1 microdeletion syndrome": "ORPHA:251028", "Del(2)(q33.1)": "ORPHA:251028", "Monosomy 2q33.1": "ORPHA:251028", "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome": "ORPHA:2269", "Jagell-Holmgren-Hofer syndrome": "ORPHA:2269", "OBSOLETE: Ichthyosis-cheek-eyebrow syndrome": "ORPHA:2267", "OBSOLETE: Sidransky-Feinstein-Goodman syndrome": "ORPHA:2267", "3q29 microduplication syndrome": "ORPHA:251038", "Trisomy 3q29": "ORPHA:251038", "1q41q42 microdeletion syndrome": "ORPHA:250999", "Del(1)(q41q42)": "ORPHA:250999", "Monosomy 1q41q42": "ORPHA:250999", "Hypospadias-intellectual disability, Goldblatt type syndrome": "ORPHA:2261", "Goldblatt-Wallis syndrome": "ORPHA:2261", "Paternal uniparental disomy of chromosome 1 syndrome": "ORPHA:251004", "UPD(1)pat": "ORPHA:251004", "Maternal uniparental disomy of chromosome 1 syndrome": "ORPHA:251009", "UPD(1)mat": "ORPHA:251009", "Pallister-Hall syndrome": "ORPHA:672", "Hypothalamic hamartoblastoma syndrome": "ORPHA:672", "2q31.1 microdeletion syndrome": "ORPHA:251014", "Del(2)(q31.1)": "ORPHA:251014", "Monosomy 2q31.1": "ORPHA:251014", "Superficial epidermolytic ichthyosis": "ORPHA:455", "Ichthyosis bullosa of Siemens": "ORPHA:455", "SEI": "ORPHA:455", "7q31 microdeletion syndrome": "ORPHA:251061", "Del(7)(q31)": "ORPHA:251061", "Monosomy 7q31": "ORPHA:251061", "8p11.2 deletion syndrome": "ORPHA:251066", "Del(8)(p11.2)": "ORPHA:251066", "Monosomy 8p11.2": "ORPHA:251066", "Ichthyosis-oral and digital anomalies syndrome": "ORPHA:2272", "Clayton Smith-Donnai syndrome": "ORPHA:2272", "8p23.1 microdeletion syndrome": "ORPHA:251071", "Del(8)(p23.1)": "ORPHA:251071", "Monosomy 8p23.1": "ORPHA:251071", "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome": "ORPHA:2274", "Dykes-Marks-Harper syndrome": "ORPHA:2274", "8p23.1 duplication syndrome": "ORPHA:251076", "Dup(8)(p23.1p23.1)": "ORPHA:251076", "Trisomy 8p23.1": "ORPHA:251076", "Ichthyosis follicularis-alopecia-photophobia syndrome": "ORPHA:2273", "IFAP syndrome": "ORPHA:2273", "Ichthyosis follicularis-atrichia-photophobia syndrome": "ORPHA:2273", "Ring chromosome 5 syndrome": "ORPHA:251043", "Ring 5": "ORPHA:251043", "Ring chromosome 5": "ORPHA:251043", "Neutral lipid storage disease": "ORPHA:165", "Lipidosis with triglyceride storage disease": "ORPHA:165", "CHILD syndrome": "ORPHA:139", "CHILD nevus": "ORPHA:139", "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects": "ORPHA:139", "6p22 microdeletion syndrome": "ORPHA:251046", "Del(6)(p22)": "ORPHA:251046", "Monosomy 6p22": "ORPHA:251046", "Harlequin ichthyosis": "ORPHA:457", "Autosomal congenital ichthyosis, Harlequin type": "ORPHA:457", "HI": "ORPHA:457", "Ichthyosis congenita, Harlequin type": "ORPHA:457", "Congenital ichthyosis-microcephalus-tetraplegia syndrome": "ORPHA:2271", "Congenital ichthyosis-microcephalus-quadriplegia syndrome": "ORPHA:2271", "6q25.2q25.3 microdeletion syndrome": "ORPHA:251056", "Del(6)(q25)": "ORPHA:251056", "Monosomy 6q25": "ORPHA:251056", "Serpinopathy with toxic serpin polymerization": "ORPHA:250808", "OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome": "ORPHA:2245", "Serpinopathy": "ORPHA:250805", "Cerebellar hypoplasia-tapetoretinal degeneration syndrome": "ORPHA:2246", "Logopenic progressive aphasia": "ORPHA:250831", "LPA": "ORPHA:658574", "Logopenic primary progressive aphasia": "ORPHA:250831", "Logopenic variant PPA": "ORPHA:250831", "Ulna hypoplasia-intellectual disability syndrome": "ORPHA:2249", "Serpinopathy with loss of serpin function": "ORPHA:250811", "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland": "ORPHA:2239", "Megacystis-microcolon-intestinal hypoperistalsis syndrome": "ORPHA:2241", "Berdon syndrome": "ORPHA:2241", "MMIHS": "ORPHA:2241", "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome": "ORPHA:2241", "Hypopituitarism-micropenis-cleft lip/palate syndrome": "ORPHA:2243", "Autosomal recessive Stickler syndrome": "ORPHA:250984", "Fibulo-ulnar hypoplasia-renal anomalies syndrome": "ORPHA:2256", "Saito-Kuba-Tsuruta syndrome": "ORPHA:2256", "Primary pulmonary hypoplasia": "ORPHA:2257", "AICA-ribosiduria": "ORPHA:250977", "5-amino-4-imidazole carboxamide ribosiduria": "ORPHA:250977", "AICA-ribosiduria due to ATIC deficiency": "ORPHA:250977", "AICAR transformylase/IMP cyclohydrolase deficiency": "ORPHA:250977", "ATIC deficiency": "ORPHA:250977", "OBSOLETE: Congenital unilateral pulmonary hypoplasia": "ORPHA:2258", "1q21.1 microduplication syndrome": "ORPHA:250994", "Dup(1)(q21.1)": "ORPHA:250994", "Trisomy 1q21.1": "ORPHA:250994", "1q21.1 microdeletion syndrome": "ORPHA:250989", "Del(1)(q21)": "ORPHA:250989", "Monosomy 1q21.1": "ORPHA:250989", "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome": "ORPHA:2250", "Bosma arhinia-microphthalmia syndrome": "ORPHA:2250", "Bosma-Henkin-Christiansen syndrome": "ORPHA:2250", "Isolated aniridia": "ORPHA:250923", "Thumb deformity-alopecia-pigmentation anomaly syndrome": "ORPHA:2251", "Sparse hair-short stature-skin anomalies syndrome": "ORPHA:2251", "Rare neoplastic disease": "ORPHA:250908", "Rare tumoral disease": "ORPHA:250908", "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome": "ORPHA:2252", "Schmitt-Gillenwater-Kelly syndrome": "ORPHA:2252", "Polymicrogyria with optic nerve hypoplasia": "ORPHA:250972", "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome": "ORPHA:2255", "PACHD": "ORPHA:2255", "Pancreatic agenesis and congenital heart defects syndrome": "ORPHA:2255", "Yorifuji-Okuno syndrome": "ORPHA:2255", "Autosomal dominant optic atrophy and peripheral neuropathy": "ORPHA:250932", "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome": "ORPHA:251380", "HPFH-sickle cell disease syndrome": "ORPHA:251380", "Isotretinoin-like syndrome": "ORPHA:2306", "Kawashima syndrome": "ORPHA:2306", "Microtia-aortic arch syndrome": "ORPHA:2306", "CK syndrome": "ORPHA:251383", "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome": "ORPHA:251383", "Isotretinoin syndrome": "ORPHA:2305", "Isotretinoin embryopathy": "ORPHA:2305", "Retinoic acid embryopathy": "ORPHA:2305", "Retinoids embryopathy": "ORPHA:2305", "Sickle cell-hemoglobin D disease syndrome": "ORPHA:251370", "HbSD disease": "ORPHA:251370", "Sickle cell-hemoglobin E disease syndrome": "ORPHA:251375", "HbSE disease": "ORPHA:251375", "Sickle cell-beta-thalassemia disease syndrome": "ORPHA:251359", "HbS-beta-thalassemia syndrome": "ORPHA:251359", "Sickle cell-hemoglobin C disease syndrome": "ORPHA:251365", "HbSC disease": "ORPHA:251365", "Familial articular hypermobility syndrome": "ORPHA:2295", "Familial joint instability syndrome": "ORPHA:2295", "Familial joint laxity": "ORPHA:2295", "Joint instability syndrome": "ORPHA:2295", "Sickle cell disease associated with another hemoglobin anomaly": "ORPHA:251355", "Double heterozygotes sickling disorder": "ORPHA:251355", "OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome": "ORPHA:2292", "Maternal disease-related embryofetopathy": "ORPHA:251535", "Juberg-Hayward syndrome": "ORPHA:2319", "Cleft lip/palate-abnormal thumbs-microcephaly syndrome": "ORPHA:2319", "Orocraniodigital syndrome": "ORPHA:2319", "Rare tumor of neuroepithelial tissue": "ORPHA:251558", "Hyperzincemia and hypercalprotectinemia": "ORPHA:251523", "Hz/Hc": "ORPHA:251523", "PAMI syndrome": "ORPHA:251523", "PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome": "ORPHA:251523", "Johnson neuroectodermal syndrome": "ORPHA:2316", "Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome": "ORPHA:2316", "Alopecia-anosmia-deafness-hypogonadism syndrome": "ORPHA:2316", "Johnson-McMillin syndrome": "ORPHA:2316", "Toxic or drug-related embryofetopathy": "ORPHA:251529", "Johanson-Blizzard syndrome": "ORPHA:2315", "JBS": "ORPHA:2315", "46,XY partial gonadal dysgenesis": "ORPHA:251510", "46,XY PGD": "ORPHA:251510", "46,XY partial testicular dysgenesis": "ORPHA:251510", "Distal arthrogryposis type 10": "ORPHA:251515", "DA10": "ORPHA:251515", "Plantar flexion contracture": "ORPHA:251515", "Short Achilles tendon": "ORPHA:251515", "Short tendo calcaneus": "ORPHA:251515", "Absence deformity of leg-cataract syndrome": "ORPHA:2310", "Pachyonychia congenita": "ORPHA:2309", "PC": "ORPHA:2309", "Localized junctional epidermolysis bullosa": "ORPHA:251393", "JEB-nH loc": "ORPHA:251393", "Junctional epidermolysis bullosa, non-Herlitz localized type": "ORPHA:251393", "Localized JEB": "ORPHA:251393", "IVIC syndrome": "ORPHA:2307", "Oculo-oto-radial syndrome": "ORPHA:2307", "Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia": "ORPHA:2307", "Pigmented paravenous retinochoroidal atrophy": "ORPHA:251295", "PPRCA": "ORPHA:251295", "Parietal foramina with clavicular hypoplasia": "ORPHA:251290", "Parietal foramina with cleidocranial dysplasia": "ORPHA:251290", "Dysmorphism-short stature-deafness-difference of sex development syndrome": "ORPHA:2282", "Dysmorphism-short stature-deafness-disorder of sex development syndrome": "ORPHA:2282", "Dysmorphism-short stature-hearing loss-disorder of sex development syndrome": "ORPHA:2282", "Ieshima-Koeda-Inagaki syndrome": "ORPHA:2282", "Benign concentric annular macular dystrophy": "ORPHA:251287", "Autosomal dominant spastic ataxia type 1": "ORPHA:251282", "SPAX1": "ORPHA:251282", "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome": "ORPHA:251279", "Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome": "ORPHA:251279", "Familial hyperaldosteronism type III": "ORPHA:251274", "FH-III": "ORPHA:251274", "FH3": "ORPHA:251274", "Familial hyperaldosteronism type 3": "ORPHA:251274", "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome": "ORPHA:2278", "Passwell-Goodman-Siprkowski syndrome": "ORPHA:2278", "Familial osteochondritis dissecans": "ORPHA:251262", "Osteochondritis dissecans and short stature": "ORPHA:251262", "Congenital velopharyngeal incompetence": "ORPHA:2291", "Ataxia-telangiectasia-like disorder": "ORPHA:251347", "ATLD": "ORPHA:251347", "Unexplained long-lasting fever/inflammatory syndrome": "ORPHA:251332", "Persistent fever/inflammation of unknown origin": "ORPHA:251332", "Unclassified vasculitis": "ORPHA:251328", "Neuronal intranuclear inclusion disease": "ORPHA:2289", "Drug-induced vasculitis": "ORPHA:251325", "Microvillus inclusion disease": "ORPHA:2290", "Congenital microvillous atrophy": "ORPHA:2290", "Congenital microvillus atrophy": "ORPHA:2290", "MVID": "ORPHA:2290", "Microvillous inclusion disease": "ORPHA:2290", "OBSOLETE: Unclassified overlapping connective tissue disease": "ORPHA:251316", "Fused mandibular incisors": "ORPHA:2287", "Overlapping connective tissue disease": "ORPHA:251312", "Primary basilar invagination": "ORPHA:2285", "Bull-Nixon syndrome": "ORPHA:2285", "Idiopathic recurrent pericarditis": "ORPHA:251307", "Idiopathic relapsing pericarditis": "ORPHA:251307", "OBSOLETE: Solitary median maxillary central incisor syndrome": "ORPHA:2286", "OBSOLETE: SMMCI": "ORPHA:2286", "OBSOLETE: Single upper central incisor": "ORPHA:2286", "Infantile onset panniculitis with uveitis and systemic granulomatosis": "ORPHA:251304", "OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome": "ORPHA:2675", "OBSOLETE: Maccario-Mena syndrome": "ORPHA:2675", "Exercise intolerance with lactic acidosis": "ORPHA:254843", "Cyprus facial-neuromusculoskeletal syndrome": "ORPHA:2674", "Isolated oxidative phosphorylation complex disorder": "ORPHA:254846", "Isolated respiratory chain complex disorder": "ORPHA:254846", "Unspecified mitochondrial disorder": "ORPHA:254837", "Neurofaciodigitorenal syndrome": "ORPHA:2673", "Freire Maia-Pinheiro-Opitz syndrome": "ORPHA:2673", "Neuhauser-Eichner-Opitz syndrome": "ORPHA:2672", "Recurrent encephalophathy of childhood": "ORPHA:2672", "OBSOLETE: Infantile axonal neuropathy": "ORPHA:2679", "Lethal infantile mitochondrial myopathy": "ORPHA:254857", "LIMD": "ORPHA:254857", "LIMM": "ORPHA:254857", "Lethal infantile mitochondrial disease": "ORPHA:254857", "Familial isolated caf\u00e9-au-lait macules": "ORPHA:2678", "CALs syndrome isolated": "ORPHA:2678", "Familial CALMs isolated": "ORPHA:2678", "Familial isolated CALSs": "ORPHA:2678", "Familial isolated caf\u00e9-au-lait spots": "ORPHA:2678", "Multiple isolated caf\u00e9-au-lait spots": "ORPHA:2678", "Multiple isolated caf\u00e9-au-lait syndrome": "ORPHA:2678", "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency": "ORPHA:254864", "Benign COX deficiency": "ORPHA:254864", "Infantile reversible cytochrome C oxidase deficiency myopathy": "ORPHA:254864", "Mitochondrial myopathy with reversible COX deficiency": "ORPHA:254864", "Mitochondrial myopathy with reversible complex IV deficiency": "ORPHA:254864", "Reversible infantile cytochrome C oxidase deficiency": "ORPHA:254864", "Reversible infantile respiratory chain deficiency": "ORPHA:254864", "Neuroectodermal-endocrine syndrome": "ORPHA:2676", "Oerter-Friedman-Anderson syndrome": "ORPHA:2676", "Mitochondrial DNA-related dystonia": "ORPHA:254851", "Maternally-inherited mitochondrial dystonia": "ORPHA:254851", "mtDNA-related dystonia": "ORPHA:254851", "Pure mitochondrial myopathy": "ORPHA:254854", "Nephropathy-deafness-hyperparathyroidism syndrome": "ORPHA:2668", "Edwards-Patton-Dilly syndrome": "ORPHA:2668", "Nephropathy-hearing loss-hyperparathyroidism syndrome": "ORPHA:2668", "Multiple mitochondrial DNA deletion syndrome": "ORPHA:254807", "Multiple mtDNA deletion syndrome": "ORPHA:254807", "Nathalie syndrome": "ORPHA:2663", "Deafness-cataract-skeletal anomalies syndrome": "ORPHA:2663", "Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome": "ORPHA:2663", "Ataxia neuropathy spectrum": "ORPHA:254818", "Keipert syndrome": "ORPHA:2662", "Nasodigitoacoustic syndrome": "ORPHA:2662", "OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA": "ORPHA:254793", "OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA": "ORPHA:254793", "OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA": "ORPHA:254793", "OBSOLETE: OXPHOS disease due to a duplication of mtDNA": "ORPHA:254793", "Dwarfism-tall vertebrae syndrome": "ORPHA:2661", "Mitochondrial DNA depletion syndrome, encephalomyopathic form": "ORPHA:254803", "mtDNA depletion syndrome, encephalomyopathic form": "ORPHA:254803", "Neu-Laxova syndrome": "ORPHA:2671", "Mitochondrial substrate carrier disorder": "ORPHA:254830", "Renal coloboma syndrome": "ORPHA:1475", "Coloboma of optic nerve with renal disease": "ORPHA:1475", "Papillo-renal syndrome": "ORPHA:1475", "Mitochondrial protein import disorder": "ORPHA:254834", "Pierson syndrome": "ORPHA:2670", "Microcoria-congenital nephrosis syndrome": "ORPHA:2670", "Mitochondrial oxidative phosphorylation disorder with no known mechanism": "ORPHA:254822", "OXPHOS disease with no known mechanism": "ORPHA:254822", "Nephrosis-deafness-urinary tract-digital malformations syndrome": "ORPHA:2669", "Braun-Bayer syndrome": "ORPHA:2669", "Nephrosis-hearing loss-urinary tract-digital malformations syndrome": "ORPHA:2669", "Mitochondrial membrane transport disorder": "ORPHA:254827", "Combined oxidative phosphorylation defect type 7": "ORPHA:254930", "COXPD7": "ORPHA:254930", "Severe C12ORF65-related COXPD": "ORPHA:254930", "Severe C12ORF65-related combined oxidative phosphorylation defect": "ORPHA:254930", "Combined oxidative phosphorylation defect type 4": "ORPHA:254925", "COXPD4": "ORPHA:254925", "Arthrogryposis-renal dysfunction-cholestasis syndrome": "ORPHA:2697", "ARC syndrome": "ORPHA:2697", "OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome": "ORPHA:2694", "Combined oxidative phosphorylation defect type 2": "ORPHA:254920", "COXPD2": "ORPHA:254920", "Bifid nose": "ORPHA:2695", "Isolated ATP synthase deficiency": "ORPHA:254913", "Isolated mitochondrial respiratory chain complex V deficiency": "ORPHA:254913", "Pyruvate dehydrogenase E3-binding protein deficiency": "ORPHA:255182", "2-oxoglutarate complex deficiency": "ORPHA:255182", "Branched chain alpha-ketoacid dehydrogenase complex deficiency": "ORPHA:255182", "Diaphorase deficiency": "ORPHA:255182", "Dihydrolipoyl dehydrogenase deficiency": "ORPHA:255182", "Glycine cleavage system L protein deficiency": "ORPHA:255182", "Lipoamide dehydrogenase deficiency": "ORPHA:255182", "Pyruvate dehydrogenase complex component E3 deficiency": "ORPHA:255182", "Pyruvate dehydrogenase protein X component deficiency": "ORPHA:255182", "Noonan syndrome-like disorder with loose anagen hair": "ORPHA:2701", "Mazzanti syndrome": "ORPHA:2701", "NS/LAH": "ORPHA:2701", "Pyruvate dehydrogenase E1-beta deficiency": "ORPHA:255138", "PDHBD": "ORPHA:255138", "Pyruvate dehydrogenase complex E1 component subunit beta deficiency": "ORPHA:255138", "Adult-onset autosomal recessive sideroblastic anemia": "ORPHA:255132", "GLRX5-related sideroblastic anemia": "ORPHA:255132", "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome": "ORPHA:2698", "Bart-Pumphrey syndrome": "ORPHA:2698", "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome": "ORPHA:2698", "Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome": "ORPHA:2698", "Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome": "ORPHA:2698", "OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness": "ORPHA:255117", "Median nodule of the upper lip": "ORPHA:2699", "Autosomal recessive progressive external ophthalmoplegia": "ORPHA:254886", "arPEO": "ORPHA:254886", "Spinocerebellar ataxia with epilepsy": "ORPHA:254881", "MSCAE": "ORPHA:254881", "Mitochondrial spinocerebellar ataxia with epilepsy": "ORPHA:254881", "SCAE": "ORPHA:254881", "Mitochondrial DNA depletion syndrome, myopathic form": "ORPHA:254875", "mtDNA depletion syndrome, myopathic form": "ORPHA:254875", "Mitochondrial DNA depletion syndrome, hepatocerebral form": "ORPHA:254871", "Deoxyguanosine kinase deficiency": "ORPHA:254871", "mtDNA depletion syndrome, hepatocerebral form": "ORPHA:254871", "Isolated cytochrome C oxidase deficiency": "ORPHA:254905", "Isolated COX deficiency": "ORPHA:254905", "Isolated mitochondrial respiratory chain complex IV deficiency": "ORPHA:254905", "Renal tubulopathy-encephalopathy-liver failure syndrome": "ORPHA:254902", "Neutropenia-monocytopenia-deafness syndrome": "ORPHA:2690", "Neutropenia-monocytopenia-hearing loss syndrome": "ORPHA:2690", "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome": "ORPHA:254898", "Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome": "ORPHA:254898", "Nevo syndrome": "ORPHA:2691", "Cerebral gigantism, Nevo type": "ORPHA:2691", "Autosomal dominant progressive external ophthalmoplegia": "ORPHA:254892", "adPEO": "ORPHA:254892", "Oculofaciocardiodental syndrome": "ORPHA:2712", "Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome": "ORPHA:2712", "OFCD syndrome": "ORPHA:2712", "Oculo-palato-cerebral syndrome": "ORPHA:2714", "Oculo-palato-cerebral dwarfism": "ORPHA:2714", "Oculoosteocutaneous syndrome": "ORPHA:2713", "OBSOLETE: Oculo-skeletal-renal syndrome": "ORPHA:2716", "Severe oculo-renal-cerebellar syndrome": "ORPHA:2715", "Hunter-Jurenka-Thompson syndrome": "ORPHA:2715", "ORC syndrome": "ORPHA:2715", "Oculorenocerebellar syndrome": "ORPHA:2715", "Oculotrichodysplasia": "ORPHA:2718", "Cecato de Lima-Pinheiro syndrome": "ORPHA:2718", "Oculotrichoanal syndrome": "ORPHA:2717", "MOTA syndrome": "ORPHA:2717", "Manitoba oculotrichoanal syndrome": "ORPHA:2717", "Marles syndrome": "ORPHA:2717", "Marles-Greenberg-Persaud syndrome": "ORPHA:2717", "Urofacial syndrome": "ORPHA:2704", "Hydronephrosis-inverted smile syndrome": "ORPHA:2704", "Inverted smile-neurogenic bladder syndrome": "ORPHA:2704", "Ochoa facial syndrome": "ORPHA:2704", "Ochoa syndrome": "ORPHA:2704", "Partial facial palsy with urinary abnormalities": "ORPHA:2704", "OBSOLETE: Sporadic Leigh syndrome": "ORPHA:255199", "OBSOLETE: Sporadic Leigh disease": "ORPHA:255199", "OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy": "ORPHA:255199", "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome": "ORPHA:2703", "Nova syndrome": "ORPHA:2703", "Mitochondrial DNA-associated Leigh syndrome": "ORPHA:255210", "MILS": "ORPHA:255210", "Maternally-inherited Leigh disease": "ORPHA:255210", "Maternally-inherited infantile subacute necrotizing encephalopathy": "ORPHA:255210", "mtDNA-associated Leigh syndrome": "ORPHA:255210", "OBSOLETE: Oculocerebroacral syndrome": "ORPHA:2706", "OBSOLETE: Oculocerebral dysplasia": "ORPHA:2705", "OBSOLETE: Behrens-Baumann-Vogel syndrome": "ORPHA:2705", "OBSOLETE: Microphthalmia-optic nerve aplasia syndrome": "ORPHA:2705", "OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy": "ORPHA:255225", "OBSOLETE: Oculocerebroosseous syndrome": "ORPHA:2708", "OBSOLETE: Plum syndrome": "ORPHA:2708", "Navajo neurohepatopathy": "ORPHA:255229", "Navajo neuropathy": "ORPHA:255229", "Oculocerebrofacial syndrome, Kaufman type": "ORPHA:2707", "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy": "ORPHA:255235", "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy": "ORPHA:255235", "Oculodentodigital dysplasia": "ORPHA:2710", "Meyer-Schwickerath syndrome": "ORPHA:2710", "Meyer-Schwickerath-Weyers syndrome": "ORPHA:2710", "ODDD syndrome": "ORPHA:2710", "ODOD syndrome": "ORPHA:2710", "Oculo-dento-digital dysplasia": "ORPHA:2710", "Oculodentodigital syndrome": "ORPHA:2710", "Oculodentodigitalis dysplasia": "ORPHA:2710", "Oculodentoosseous dysplasia": "ORPHA:2710", "Osseous-oculo-dental dysplasia": "ORPHA:2710", "Leigh syndrome with leukodystrophy": "ORPHA:255241", "Infantile subacute necrotizing encephalopathy with leukodystrophy": "ORPHA:255241", "Leigh disease with leukodystrophy": "ORPHA:255241", "Oculodental syndrome, Rutherfurd type": "ORPHA:2709", "Gingival hypertrophy-corneal dystrophy": "ORPHA:2709", "Rutherfurd syndrome": "ORPHA:2709", "Leigh syndrome with nephrotic syndrome": "ORPHA:255249", "Infantile subacute necrotizing encephalopathy with nephrotic syndrome": "ORPHA:255249", "Leigh disease with nephrotic syndrome": "ORPHA:255249", "Blepharophimosis-intellectual disability syndrome, Ohdo type": "ORPHA:2728", "BMRS, Ohdo type": "ORPHA:2728", "Blepharophimosis syndrome, Ohdo type": "ORPHA:2728", "Ohdo syndrome": "ORPHA:2728", "Ohdo-Madokoro-Sonoda syndrome": "ORPHA:2728", "Postaxial tetramelic oligodactyly": "ORPHA:2730", "Taurodontia-absent teeth-sparse hair syndrome": "ORPHA:2731", "Olivopontocerebellar atrophy-deafness syndrome": "ORPHA:2732", "Olivopontocerebellar atrophy-hearing loss syndrome": "ORPHA:2732", "Omodysplasia": "ORPHA:2733", "Oculocerebral hypopigmentation syndrome, Cross type": "ORPHA:2719", "Cross syndrome": "ORPHA:2719", "Oculocerebral hypopigmentation syndrome, Preus type": "ORPHA:2720", "Odonto-onycho-dermal dysplasia": "ORPHA:2721", "OODD": "ORPHA:2721", "Odonto-onycho dysplasia-alopecia syndrome": "ORPHA:2722", "Odontotrichomelic syndrome": "ORPHA:2723", "Freire-Maia syndrome": "ORPHA:2723", "Odontomatosis-aortae esophagus stenosis syndrome": "ORPHA:2724", "Boder syndrome": "ORPHA:2724", "Autosomal recessive sideroblastic anemia": "ORPHA:260305", "ARSA": "ORPHA:260305", "Congenital sideroblastic anemia": "ORPHA:260305", "Eye defects-arachnodactyly-cardiopathy syndrome": "ORPHA:2725", "Al Gazali-Al Talabani syndrome": "ORPHA:2725", "Al Gazali-Lytle syndrome": "ORPHA:2725", "Orofaciodigital syndrome type 8": "ORPHA:2755", "OFD8": "ORPHA:2755", "Oral-facial-digital syndrome type 8": "ORPHA:2755", "Oral-facial-digital syndrome, Edwards type": "ORPHA:2755", "Orofaciodigital syndrome, Edwards type": "ORPHA:2755", "Orofaciodigital syndrome type 6": "ORPHA:2754", "Joubert syndrome with oral-facial-digital syndrome": "ORPHA:2754", "Joubert syndrome with orofaciodigital defect": "ORPHA:2754", "OFD6": "ORPHA:2754", "Oral-facial-digital syndrome type 6": "ORPHA:2754", "Polydactyly-cleft lip/palate-psychomotor retardation syndrome": "ORPHA:2754", "V\u00e1radi syndrome": "ORPHA:2754", "V\u00e1radi-Papp syndrome": "ORPHA:2754", "Benign schwannoma": "ORPHA:252164", "Neurilemmoma": "ORPHA:252164", "Neurilemoma": "ORPHA:252164", "Peripheral fibroblastoma": "ORPHA:252164", "Orofaciodigital syndrome type 4": "ORPHA:2753", "Baraitser-Burn syndrome": "ORPHA:2753", "Mohr-Majewski syndrome": "ORPHA:2753", "OFD4": "ORPHA:2753", "Oral-facial-digital syndrome type 4": "ORPHA:2753", "Orofaciodigital syndrome type 3": "ORPHA:2752", "OFD3": "ORPHA:2752", "Oral-facial-digital syndrome type 3": "ORPHA:2752", "Sugarman syndrome": "ORPHA:2752", "Orofaciodigital syndrome type 2": "ORPHA:2751", "Mohr syndrome": "ORPHA:2751", "OFD2": "ORPHA:2751", "Oral-facial-digital syndrome type 2": "ORPHA:2751", "Malignant peripheral nerve sheath tumor with perineurial differentiation": "ORPHA:252128", "Malignant perineurioma": "ORPHA:252128", "Orofaciodigital syndrome type 1": "ORPHA:2750", "OFD1": "ORPHA:2750", "OFDI": "ORPHA:2750", "OFDSI": "ORPHA:2750", "Oral-facial-digital syndrome type 1": "ORPHA:2750", "Papillon-L\u00e9age-Psaume syndrome": "ORPHA:2750", "Benign peripheral nerve sheath tumor": "ORPHA:252131", "BPNST": "ORPHA:252131", "Tumor of cranial and spinal nerves": "ORPHA:252057", "Rare tumor of cranial and spinal nerves": "ORPHA:252057", "Primary melanoma of the central nervous system": "ORPHA:252050", "Malignant melanoma of meninges": "ORPHA:252050", "Primary melanoma of the CNS": "ORPHA:252050", "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome": "ORPHA:2743", "Levic-Stefanovic-Nikolic syndrome": "ORPHA:2743", "OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome": "ORPHA:2742", "Hemangioblastoma": "ORPHA:252054", "Ophthalmomandibulomelic dysplasia": "ORPHA:2741", "OMM syndrome": "ORPHA:2741", "Pillay syndrome": "ORPHA:2741", "Diffuse leptomeningeal melanocytosis": "ORPHA:252031", "DLM": "ORPHA:252031", "Leptomeningeal melanomatosis": "ORPHA:252031", "Meningeal melanocytoma": "ORPHA:252046", "Tumor of meninges": "ORPHA:252025", "Onycho-tricho-dysplasia-neutropenia syndrome": "ORPHA:2739", "Itin syndrome": "ORPHA:2739", "ONMR syndrome": "ORPHA:2739", "Trichothiodystrophy type G": "ORPHA:2739", "Primary melanocytic tumor of central nervous system": "ORPHA:252028", "Primary melanocytic lesion of CNS": "ORPHA:252028", "Primary melanocytic lesion of central nervous system": "ORPHA:252028", "Primary melanocytic tumor of CNS": "ORPHA:252028", "Teratoma of the central nervous system": "ORPHA:252018", "Congenital central hypoventilation syndrome": "ORPHA:661", "CCHS": "ORPHA:661", "Congenital central alveolar hypoventilation syndrome": "ORPHA:661", "Ondine curse": "ORPHA:661", "Ondine syndrome": "ORPHA:661", "Lethal omphalocele-cleft palate syndrome": "ORPHA:2736", "Czeizel syndrome": "ORPHA:2736", "Mixed germ cell tumor of central nervous system": "ORPHA:252021", "Mixed germ cell tumor of CNS": "ORPHA:252021", "Rare lichen planus": "ORPHA:254367", "Rare LP": "ORPHA:254367", "Autosomal recessive distal osteolysis syndrome": "ORPHA:2776", "Distal osteolysis-short stature-intellectual disability syndrome": "ORPHA:2776", "Petit-Fryns syndrome": "ORPHA:2776", "Osteomesopyknosis": "ORPHA:2777", "Axial osteosclerosis": "ORPHA:2777", "Osteomesopycnosis": "ORPHA:2777", "Plectin-related limb-girdle muscular dystrophy R17": "ORPHA:254361", "Autosomal recessive limb-girdle muscular dystrophy type 2Q": "ORPHA:254361", "LGMD type 2Q": "ORPHA:254361", "LGMD2Q": "ORPHA:254361", "Limb-girdle muscular dystrophy type 2Q": "ORPHA:254361", "Plectin-related LGMD R17": "ORPHA:254361", "Multicentric carpo-tarsal osteolysis with or without nephropathy": "ORPHA:2774", "Idiopathic multicentric osteolysis with or without nephropathy": "ORPHA:2774", "Distal 7q11.23 microdeletion syndrome": "ORPHA:254351", "Distal del(7)(q11.23)": "ORPHA:254351", "Distal monosomy 7q11.23": "ORPHA:254351", "Autosomal recessive carpotarsal osteolysis": "ORPHA:2775", "Hereditary multicentric osteolysis": "ORPHA:2775", "Familial osteodysplasia, Anderson type": "ORPHA:2769", "19p13.12 microdeletion syndrome": "ORPHA:254346", "Del(19)(p13.12)": "ORPHA:254346", "Monosomy 19p13.12": "ORPHA:254346", "Nasu-Hakola disease": "ORPHA:2770", "NHD": "ORPHA:2770", "PLO-SL": "ORPHA:2770", "PLOSL": "ORPHA:2770", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy": "ORPHA:2770", "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome": "ORPHA:254343", "Autosomal recessive spastic ataxia type 4": "ORPHA:254343", "SPAX4": "ORPHA:254343", "Carpotarsal osteochondromatosis": "ORPHA:2767", "Maroteaux-Le Merrer-Bensahel syndrome": "ORPHA:2767", "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B": "ORPHA:254334", "RI-CMT type B": "ORPHA:254334", "Blount disease": "ORPHA:2768", "Infantile tibia vara": "ORPHA:2768", "Osteochondrosis deformans tibiae": "ORPHA:2768", "Tibia vara Blount": "ORPHA:2768", "OBSOLETE: Hypertrichotic osteochondrodysplasia": "ORPHA:2765", "Progressive osseous heteroplasia": "ORPHA:2762", "Familial ectopic ossification": "ORPHA:2762", "POH": "ORPHA:2762", "Malignant triton tumor": "ORPHA:252212", "MPNST with rhabdomyosarcomatous differentiation": "ORPHA:252212", "MTT": "ORPHA:252212", "Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation": "ORPHA:252212", "Osteocraniostenosis": "ORPHA:2763", "Gracile bone dysplasia": "ORPHA:2763", "Osteocraniosplenic syndrome": "ORPHA:2763", "Melanoma and neural system tumor syndrome": "ORPHA:252206", "Melanoma-astrocytoma syndrome": "ORPHA:252206", "Constitutional mismatch repair deficiency syndrome": "ORPHA:252202", "CMMR-D syndrome": "ORPHA:252202", "Imperforate oropharynx-costovertebral anomalies syndrome": "ORPHA:2759", "Seghers syndrome": "ORPHA:2759", "OSLAM syndrome": "ORPHA:2760", "Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome": "ORPHA:2760", "Inherited nervous system cancer-predisposing syndrome": "ORPHA:252190", "Neurofibroma": "ORPHA:252183", "Vestibular schwannoma": "ORPHA:252175", "Acoustic neurilemoma": "ORPHA:252175", "Acoustic neurinoma": "ORPHA:252175", "Acoustic neuroma": "ORPHA:252175", "Temple syndrome": "ORPHA:254516", "Otoonychoperoneal syndrome": "ORPHA:2793", "Otofaciocervical syndrome": "ORPHA:2792", "Fara-Chlupackova syndrome": "ORPHA:2792", "OFC syndrome": "ORPHA:2792", "Kagami-Ogata syndrome": "ORPHA:254519", "KOS": "ORPHA:254519", "Temple syndrome due to paternal 14q32.2 microdeletion": "ORPHA:254525", "Paternal del(14)(q32.2)": "ORPHA:254525", "Pachygyria-intellectual disability-epilepsy syndrome": "ORPHA:2798", "Kuzniecky syndrome": "ORPHA:2798", "Pachydermoperiostosis": "ORPHA:2796", "PDP": "ORPHA:2796", "Touraine-Solente-Gole syndrome": "ORPHA:2796", "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion": "ORPHA:254528", "Maternal del(14)(q32.2)": "ORPHA:254528", "Maternal monosomy 14q32.2": "ORPHA:254528", "Lichen planus pemphigoides": "ORPHA:254478", "LP pemphigoides": "ORPHA:254478", "Lateral meningocele syndrome": "ORPHA:2789", "Lehman syndrome": "ORPHA:2789", "Osteoporosis-pseudoglioma syndrome": "ORPHA:2788", "OPPG": "ORPHA:2788", "Ocular form of osteogenesis imperfecta": "ORPHA:2788", "Frontal fibrosing alopecia": "ORPHA:254492", "FFA": "ORPHA:254492", "Otodental syndrome": "ORPHA:2791", "Globodontia": "ORPHA:2791", "Otodental dysplasia": "ORPHA:2791", "Inhalational botulism": "ORPHA:254504", "Inhalation botulism": "ORPHA:254504", "Endosteal hyperostosis, Worth type": "ORPHA:2790", "Autosomal dominant osteosclerosis, Worth type": "ORPHA:2790", "Worth syndrome": "ORPHA:2790", "Iatrogenic botulism": "ORPHA:254509", "Inadvertent botulism": "ORPHA:254509", "NON RARE IN EUROPE: Buschke-Ollendorff syndrome": "ORPHA:1306", "NON RARE IN EUROPE: Disseminated dermatofibrosis with osteopoikilosis": "ORPHA:1306", "Annular atrophic lichen planus": "ORPHA:254411", "Annular atrophic LP": "ORPHA:254411", "Annular lichen planus": "ORPHA:254424", "Annular LP": "ORPHA:254424", "Autosomal dominant osteopetrosis type 1": "ORPHA:2783", "OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome": "ORPHA:2787", "OBSOLETE: Heide syndrome": "ORPHA:2787", "Atrophic lichen planus": "ORPHA:254449", "Atrophic LP": "ORPHA:254449", "Osteoporosis-oculocutaneous hypopigmentation syndrome": "ORPHA:2786", "Hern\u00e1ndez-Fragoso syndrome": "ORPHA:2786", "OOCHS": "ORPHA:2786", "Lichen planus pigmentosus": "ORPHA:254463", "LP pigmentosa": "ORPHA:254463", "LP pigmentosus": "ORPHA:254463", "Lichen planus pigmentosa": "ORPHA:254463", "Lichen planus pigmentosus inversus": "ORPHA:254463", "Rare cutaneous lichen planus": "ORPHA:254370", "Rare cutaneous LP": "ORPHA:254370", "Osteopathia striata-cranial sclerosis syndrome": "ORPHA:2780", "Hyperostosis generalisata with striations": "ORPHA:2780", "Robinow-Unger syndrome": "ORPHA:2780", "Rare mucosal lichen planus": "ORPHA:254373", "Rare mucosal LP": "ORPHA:254373", "Osteopathia striata-pigmentary dermopathy-white forelock syndrome": "ORPHA:2779", "Whyte-Murphy syndrome": "ORPHA:2779", "Linear lichen planus": "ORPHA:254379", "Blaschkoid LP": "ORPHA:254379", "Blaschkoid lichen planus": "ORPHA:254379", "Linear LP": "ORPHA:254379", "Actinic lichen planus": "ORPHA:254395", "Actinic LP": "ORPHA:254395", "Lichen planus actinus": "ORPHA:254395", "Lichen planus subtropicus": "ORPHA:254395", "Lichen planus tropicus": "ORPHA:254395", "Lichenoid melanodermatitis": "ORPHA:254395", "Summertime actinic lichenoid eruption": "ORPHA:254395", "Autosomal recessive malignant osteopetrosis": "ORPHA:667", "Infantile malignant osteopetrosis": "ORPHA:667", "Spastic paraparesis-deafness syndrome": "ORPHA:2815", "Spastic paraparesis-hearing loss syndrome": "ORPHA:2815", "Wells-Jankovic syndrome": "ORPHA:2815", "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA": "ORPHA:254767", "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA": "ORPHA:254767", "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA": "ORPHA:254767", "OXPHOS disease due to a large-scale single deletion of mtDNA": "ORPHA:254767", "OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome": "ORPHA:2823", "OBSOLETE: Fitzsimmons-Guilbert syndrome": "ORPHA:2823", "Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies": "ORPHA:254758", "Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies": "ORPHA:254758", "OXPHOS disease due to mitochondrial DNA anomalies": "ORPHA:254758", "OXPHOS disease due to mtDNA anomalies": "ORPHA:254758", "Spastic paraplegia-epilepsy-intellectual disability syndrome": "ORPHA:2816", "SPEMR": "ORPHA:2816", "Mitochondrial DNA-related mitochondrial myopathy": "ORPHA:254788", "Maternally-inherited mitochondrial myopathy": "ORPHA:254788", "mtDNA-related mitochondrial myopathy": "ORPHA:254788", "Spastic paraplegia-glaucoma-intellectual disability syndrome": "ORPHA:2818", "Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA": "ORPHA:254776", "Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA": "ORPHA:254776", "OXPHOS disease due to a point mutation of mitochondrial DNA": "ORPHA:254776", "OXPHOS disease due to a point mutation of mtDNA": "ORPHA:254776", "Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome": "ORPHA:254723", "PHID": "ORPHA:254723", "Laryngeal abductor paralysis": "ORPHA:2808", "Familial vocal cord dysfunction": "ORPHA:2808", "Gerhardt syndrome": "ORPHA:2808", "Familial sinus histiocytosis with massive lymphadenopathy": "ORPHA:254712", "Familial Rosa\u00ef-Dorfman disease": "ORPHA:254712", "Familial SHML": "ORPHA:254712", "Familial recurrent peripheral facial palsy": "ORPHA:2809", "Familial recurrent Bell palsy": "ORPHA:2809", "Tricarboxylic acid cycle disorder": "ORPHA:254749", "Citric acid cycle disorder": "ORPHA:254749", "Krebs cycle disorder": "ORPHA:254749", "TCA cycle disorder": "ORPHA:254749", "Parana hard skin syndrome": "ORPHA:2812", "Hard skin syndrome, Parana type": "ORPHA:2812", "Pyruvate metabolism disorder": "ORPHA:254746", "Partial pancreatic agenesis": "ORPHA:2805", "Congenital pancreatic agenesis": "ORPHA:2805", "Partial agenesis of the pancreas": "ORPHA:2805", "Epithelioid trophoblastic tumor": "ORPHA:254698", "Partial hydatidiform mole": "ORPHA:254693", "Incomplete hydatidiform mole": "ORPHA:254693", "Incomplete molar pregnancy": "ORPHA:254693", "Partial molar pregnancy": "ORPHA:254693", "Annular pancreas": "ORPHA:675", "Papilloma of choroid plexus": "ORPHA:2807", "CPP": "ORPHA:2807", "Choroid plexus papilloma": "ORPHA:2807", "Faisalabad histiocytosis": "ORPHA:254707", "FHC": "ORPHA:254707", "Papillon-Lef\u00e8vre syndrome": "ORPHA:678", "Keratosis palmoplantar-periodontopathy syndrome": "ORPHA:678", "PLS": "ORPHA:99969", "Genetic hyperferritinemia without iron overload": "ORPHA:254704", "Benign hyperferritinemia": "ORPHA:254704", "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation": "ORPHA:254534", "X-linked sideroblastic anemia and spinocerebellar ataxia": "ORPHA:2802", "Pagon-Bird-Detter syndrome": "ORPHA:2802", "X-linked sideroblastic anemia with ataxia": "ORPHA:2802", "XLSA-A": "ORPHA:2802", "Temple syndrome due to paternal 14q32.2 hypomethylation": "ORPHA:254531", "Complete hydatidiform mole": "ORPHA:254688", "Complete molar pregnancy": "ORPHA:254688", "W syndrome": "ORPHA:2804", "Pallister-W syndrome": "ORPHA:2804", "Gestational trophoblastic disease": "ORPHA:254685", "OBSOLETE: Anomaly of chromosome 8": "ORPHA:261718", "NON RARE IN EUROPE: Primary ovarian failure": "ORPHA:619", "NON RARE IN EUROPE: Hypergonadotropic ovarian failure": "ORPHA:619", "NON RARE IN EUROPE: Premature menopause": "ORPHA:619", "NON RARE IN EUROPE: Premature ovarian failure": "ORPHA:619", "NON RARE IN EUROPE: Premature ovarian insufficiency": "ORPHA:619", "NON RARE IN EUROPE: Primary ovarian insufficiency": "ORPHA:619", "OBSOLETE: Anomaly of chromosome 7": "ORPHA:261715", "OBSOLETE: Anomaly of chromosome 6": "ORPHA:261712", "M\u00fcllerian duct anomalies-limb anomalies syndrome": "ORPHA:2491", "OBSOLETE: Anomaly of chromosome 5": "ORPHA:261709", "FATCO syndrome": "ORPHA:2492", "Fibular aplasia-tibial campomelia-oligosyndactyly syndrome": "ORPHA:2492", "Hecht-Scott syndrome": "ORPHA:2492", "Syndactyly type 8": "ORPHA:2498", "Fusion of metacarpals 4 and 5": "ORPHA:2498", "OBSOLETE: Anomaly of chromosome 11": "ORPHA:261730", "Metachondromatosis": "ORPHA:2499", "OBSOLETE: Anomaly of chromosome 10": "ORPHA:261724", "Mesomelia-synostoses syndrome": "ORPHA:2496", "8q13 microdeletion syndrome": "ORPHA:2496", "Del(8)q(13)": "ORPHA:2496", "Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type": "ORPHA:2496", "Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type": "ORPHA:2496", "Monosomy 8q13": "ORPHA:2496", "Verloes-David syndrome": "ORPHA:2496", "Upper limb mesomelic dysplasia, type Fryns": "ORPHA:2497", "Fryns-Hofkens-Fabry syndrome": "ORPHA:2497", "Ulna hypoplasia": "ORPHA:2497", "OBSOLETE: Anomaly of chromosome 9": "ORPHA:261721", "OBSOLETE: Anomaly of chromosome 15": "ORPHA:261742", "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome": "ORPHA:2502", "Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome": "ORPHA:2502", "OBSOLETE: Anomaly of chromosome 14": "ORPHA:261739", "OBSOLETE: Anomaly of chromosome 13": "ORPHA:261736", "Acrogeria": "ORPHA:2500", "Acrogeria, Gottron type": "ORPHA:2500", "Acrometageria": "ORPHA:2500", "Gottron syndrome": "ORPHA:2500", "OBSOLETE: Anomaly of chromosome 12": "ORPHA:261733", "Metaphyseal chondrodysplasia, Spahr type": "ORPHA:2501", "OBSOLETE: Anomaly of chromosome 19": "ORPHA:261754", "Michels syndrome": "ORPHA:2506", "3MC1 syndrome": "ORPHA:2506", "Oculopalatoskeletal syndrome": "ORPHA:2506", "OBSOLETE: Mickleson syndrome": "ORPHA:2507", "OBSOLETE: Anomaly of chromosome 18": "ORPHA:261751", "OBSOLETE: Anomaly of chromosome 17": "ORPHA:261748", "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome": "ORPHA:2504", "OBSOLETE: Anomaly of chromosome 16": "ORPHA:261745", "Multiple benign circumferential skin creases on limbs": "ORPHA:2505", "CCSF": "ORPHA:2505", "Circumferential skin creases, Kunze type": "ORPHA:2505", "Congenital circumferential skin folds": "ORPHA:2505", "Kunze-Riehm syndrome": "ORPHA:2505", "OBSOLETE: Anomaly of chromosome 22": "ORPHA:261763", "Microbrachycephaly-ptosis-cleft lip syndrome": "ORPHA:2511", "Richieri Costa-Guion Almeida-Ramos syndrome": "ORPHA:2511", "Partial deletion of chromosome 1 syndrome": "ORPHA:261766", "Partial monosomy of chromosome 1": "ORPHA:261766", "Micro syndrome": "ORPHA:2510", "WARBM": "ORPHA:2510", "Warburg micro syndrome": "ORPHA:2510", "OBSOLETE: Anomaly of chromosome 20": "ORPHA:261757", "Corpus callosum agenesis-abnormal genitalia syndrome": "ORPHA:2508", "ACC-abnormal genitalia syndrome": "ORPHA:2508", "Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome": "ORPHA:2508", "Proud syndrome": "ORPHA:2508", "Proud-Levine-Carpenter syndrome": "ORPHA:2508", "OBSOLETE: Anomaly of chromosome 21": "ORPHA:261760", "Partial deletion of chromosome 4 syndrome": "ORPHA:261781", "Partial monosomy of chromosome 4": "ORPHA:261781", "Microcephaly-cardiac defect-lung malsegmentation syndrome": "ORPHA:2516", "Ellis-Yale-Winter syndrome": "ORPHA:2516", "Partial deletion of chromosome 5 syndrome": "ORPHA:261786", "Partial monosomy of chromosome 5": "ORPHA:261786", "Microcephaly-cardiomyopathy syndrome": "ORPHA:2515", "Winship-Viljoen-Leary syndrome": "ORPHA:2515", "Partial deletion of chromosome 2 syndrome": "ORPHA:261771", "Partial monosomy of chromosome 2": "ORPHA:261771", "Autosomal dominant primary microcephaly": "ORPHA:2514", "Partial deletion of chromosome 3 syndrome": "ORPHA:261776", "Partial monosomy of chromosome 3": "ORPHA:261776", "Microcephaly-albinism-digital anomalies syndrome": "ORPHA:2513", "Castro Gago-Pombo-Novo syndrome": "ORPHA:2513", "Partial deletion of chromosome 8 syndrome": "ORPHA:261801", "Partial monosomy of chromosome 8": "ORPHA:261801", "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome": "ORPHA:2521", "Partial deletion of chromosome 9 syndrome": "ORPHA:261806", "Partial monosomy of chromosome 9": "ORPHA:261806", "Partial deletion of chromosome 6 syndrome": "ORPHA:261791", "Partial monosomy of chromosome 6": "ORPHA:261791", "Autosomal recessive chorioretinopathy-microcephaly syndrome": "ORPHA:2518", "Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome": "ORPHA:2518", "Partial deletion of chromosome 7 syndrome": "ORPHA:261796", "Partial monosomy of chromosome 7": "ORPHA:261796", "Partial deletion of the long arm of chromosome 12 syndrome": "ORPHA:261821", "Partial deletion of chromosome 12q": "ORPHA:261821", "Partial monosomy of chromosome 12q": "ORPHA:261821", "Partial monosomy of the long arm of chromosome 12": "ORPHA:261821", "Pontocerebellar hypoplasia type 2": "ORPHA:2524", "PCH2": "ORPHA:2524", "Partial deletion of chromosome 16 syndrome": "ORPHA:261826", "Partial monosomy of chromosome 16": "ORPHA:261826", "Partial deletion of chromosome 10 syndrome": "ORPHA:261811", "Partial monosomy of chromosome 10": "ORPHA:261811", "Microcephaly-brain defect-spasticity-hypernatremia syndrome": "ORPHA:2523", "Franek-Bocker-Kahlen syndrome": "ORPHA:2523", "Partial deletion of chromosome 11 syndrome": "ORPHA:261816", "Partial monosomy of chromosome 11": "ORPHA:261816", "Microcephaly-cervical spine fusion anomalies syndrome": "ORPHA:2522", "Partial deletion of chromosome 18 syndrome": "ORPHA:261836", "Partial monosomy of chromosome 18": "ORPHA:261836", "Microcephaly-lymphedema-chorioretinopathy syndrome": "ORPHA:2526", "MLCRD": "ORPHA:2526", "Partial deletion of chromosome 17 syndrome": "ORPHA:261831", "Partial monosomy of chromosome 17": "ORPHA:261831", "Partial deletion of chromosome 20 syndrome": "ORPHA:261846", "Partial monosomy of chromosome 20": "ORPHA:261846", "Microcephaly-microcornea syndrome, Seemanova type": "ORPHA:2528", "Seemanova-Lesny syndrome": "ORPHA:2528", "Partial deletion of chromosome 19 syndrome": "ORPHA:261841", "Partial monosomy of chromosome 19": "ORPHA:261841", "Partial deletion of the short arm of chromosome 2 syndrome": "ORPHA:261866", "Partial deletion of chromosome 2p": "ORPHA:261866", "Partial monosomy of chromosome 2p": "ORPHA:261866", "Partial monosomy of the short arm of chromosome 2": "ORPHA:261866", "Partial deletion of the short arm of chromosome 1 syndrome": "ORPHA:261857", "Partial deletion of chromosome 1p": "ORPHA:261857", "Partial monosomy of chromosome 1p": "ORPHA:261857", "Partial monosomy of the short arm of chromosome 1": "ORPHA:261857", "Partial deletion of the short arm of chromosome 4 syndrome": "ORPHA:261884", "Partial deletion of chromosome 4p": "ORPHA:261884", "Partial monosomy of chromosome 4p": "ORPHA:261884", "Partial monosomy of the short arm of chromosome 4": "ORPHA:261884", "Microcephaly-deafness-intellectual disability syndrome": "ORPHA:2533", "Kawashima-Tsuji syndrome": "ORPHA:2533", "Microcephaly-hearing loss-intellectual disability syndrome": "ORPHA:2533", "Partial deletion of the short arm of chromosome 3 syndrome": "ORPHA:261875", "Partial deletion of chromosome 3p": "ORPHA:261875", "Partial monosomy of chromosome 3p": "ORPHA:261875", "Partial monosomy of the short arm of chromosome 3": "ORPHA:261875", "OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome": "ORPHA:2535", "Partial deletion of the short arm of chromosome 6 syndrome": "ORPHA:261902", "Partial deletion of chromosome 6p": "ORPHA:261902", "Partial monosomy of chromosome 6p": "ORPHA:261902", "Partial monosomy of the short arm of chromosome 6": "ORPHA:261902", "Microcornea-glaucoma-absent frontal sinuses syndrome": "ORPHA:2536", "Partial deletion of the short arm of chromosome 5 syndrome": "ORPHA:261893", "Partial deletion of chromosome 5p": "ORPHA:261893", "Partial monosomy of chromosome 5p": "ORPHA:261893", "Partial monosomy of the short arm of chromosome 5": "ORPHA:261893", "Partial deletion of the short arm of chromosome 8 syndrome": "ORPHA:261920", "Partial deletion of chromosome 8p": "ORPHA:261920", "Partial monosomy of chromosome 8p": "ORPHA:261920", "Partial monosomy of the short arm of chromosome 8": "ORPHA:261920", "Partial deletion of the short arm of chromosome 7 syndrome": "ORPHA:261911", "Partial deletion of chromosome 7p": "ORPHA:261911", "Partial monosomy of chromosome 7p": "ORPHA:261911", "Partial monosomy of the short arm of chromosome 7": "ORPHA:261911", "Partial deletion of the short arm of chromosome 10 syndrome": "ORPHA:261938", "Partial deletion of chromosome 10p": "ORPHA:261938", "Partial monosomy of chromosome 10p": "ORPHA:261938", "Partial monosomy of the short arm of chromosome 10": "ORPHA:261938", "Partial deletion of the short arm of chromosome 9 syndrome": "ORPHA:261929", "Partial deletion of chromosome 9p": "ORPHA:261929", "Partial monosomy of chromosome 9p": "ORPHA:261929", "Partial monosomy of the short arm of chromosome 9": "ORPHA:261929", "Partial deletion of the short arm of chromosome 16 syndrome": "ORPHA:261956", "Partial deletion of chromosome 16p": "ORPHA:261956", "Partial monosomy of chromosome 16p": "ORPHA:261956", "Partial monosomy of the short arm of chromosome 16": "ORPHA:261956", "OBSOLETE: Microphthalmia-cataract syndrome": "ORPHA:2543", "OBSOLETE: Congenital cataract-microphthalmia syndrome": "ORPHA:2543", "Partial deletion of the short arm of chromosome 11 syndrome": "ORPHA:261947", "Partial deletion of chromosome 11p": "ORPHA:261947", "Partial monosomy of chromosome 11p": "ORPHA:261947", "Partial monosomy of the short arm of chromosome 11": "ORPHA:261947", "Partial deletion of the short arm of chromosome 17 syndrome": "ORPHA:261965", "Partial deletion of chromosome 17p": "ORPHA:261965", "Partial monosomy of chromosome 17p": "ORPHA:261965", "Partial monosomy of the short arm of chromosome 17": "ORPHA:261965", "Oculoauriculovertebral spectrum with radial defects": "ORPHA:2549", "Hemifacial microsomia-radial defects syndrome": "ORPHA:2549", "Moeschler-Clarren syndrome": "ORPHA:2549", "Partial deletion of the short arm of chromosome 18 syndrome": "ORPHA:261974", "Partial deletion of chromosome 18p": "ORPHA:261974", "Partial monosomy of chromosome 18p": "ORPHA:261974", "Partial monosomy of the short arm of chromosome 18": "ORPHA:261974", "Partial deletion of the short arm of chromosome 19 syndrome": "ORPHA:261983", "Partial deletion of chromosome 19p": "ORPHA:261983", "Partial monosomy of chromosome 19p": "ORPHA:261983", "Partial monosomy of the short arm of chromosome 19": "ORPHA:261983", "Microspherophakia-metaphyseal dysplasia syndrome": "ORPHA:2551", "Verloes-Van Maldergem-de Marneffe syndrome": "ORPHA:2551", "Partial deletion of the short arm of chromosome 20 syndrome": "ORPHA:261992", "Partial deletion of chromosome 20p": "ORPHA:261992", "Partial monosomy of chromosome 20p": "ORPHA:261992", "Partial monosomy of the short arm of chromosome 20": "ORPHA:261992", "Pure partial 20p deletion": "ORPHA:261992", "Partial deletion of the long arm of chromosome 1 syndrome": "ORPHA:262001", "Partial deletion of chromosome 1q": "ORPHA:262001", "Partial monosomy of chromosome 1q": "ORPHA:262001", "Partial monosomy of the long arm of chromosome 1": "ORPHA:262001", "Ear-patella-short stature syndrome": "ORPHA:2554", "Meier-Gorlin syndrome": "ORPHA:2554", "Partial deletion of the long arm of chromosome 2 syndrome": "ORPHA:262010", "Partial deletion of chromosome 2q": "ORPHA:262010", "Partial monosomy of chromosome 2q": "ORPHA:262010", "Partial monosomy of the long arm of chromosome 2": "ORPHA:262010", "Partial deletion of the long arm of chromosome 3 syndrome": "ORPHA:262019", "Partial deletion of chromosome 3q": "ORPHA:262019", "Partial monosomy of chromosome 3q": "ORPHA:262019", "Partial monosomy of the long arm of chromosome 3": "ORPHA:262019", "Microphthalmia with linear skin defects syndrome": "ORPHA:2556", "MCOPS7": "ORPHA:2556", "MIDAS syndrome": "ORPHA:2556", "MLS syndrome": "ORPHA:2556", "Microphthalmia-dermal aplasia-sclerocornea syndrome": "ORPHA:2556", "Syndromic microphthalmia type 7": "ORPHA:2556", "Partial deletion of the long arm of chromosome 4 syndrome": "ORPHA:262029", "Partial deletion of chromosome 4q": "ORPHA:262029", "Partial monosomy of chromosome 4q": "ORPHA:262029", "Partial monosomy of the long arm of chromosome 4": "ORPHA:262029", "Partial deletion of the long arm of chromosome 5 syndrome": "ORPHA:262038", "Partial deletion of chromosome 5q": "ORPHA:262038", "Partial monosomy of chromosome 5q": "ORPHA:262038", "Partial monosomy of the long arm of chromosome 5": "ORPHA:262038", "Mikati-Najjar-Sahli syndrome": "ORPHA:2558", "Microcephaly-hypergonadotropic hypogonadism-short stature syndrome": "ORPHA:2558", "Partial deletion of the long arm of chromosome 6 syndrome": "ORPHA:262047", "Partial deletion of chromosome 6q": "ORPHA:262047", "Partial monosomy of chromosome 6q": "ORPHA:262047", "Partial monosomy of the long arm of chromosome 6": "ORPHA:262047", "Mietens syndrome": "ORPHA:2557", "Intellectual disability, Mietens-Weber type": "ORPHA:2557", "Pyramidal molars-abnormal upper lip syndrome": "ORPHA:2561", "Ackerman fused molar roots syndrome": "ORPHA:2561", "Partial deletion of the long arm of chromosome 7 syndrome": "ORPHA:262056", "Partial deletion of chromosome 7q": "ORPHA:262056", "Partial monosomy of chromosome 7q": "ORPHA:262056", "Partial monosomy of the long arm of chromosome 7": "ORPHA:262056", "Partial deletion of the long arm of chromosome 8 syndrome": "ORPHA:262065", "Partial deletion of chromosome 8q": "ORPHA:262065", "Partial monosomy of chromosome 8q": "ORPHA:262065", "Partial monosomy of the long arm of chromosome 8": "ORPHA:262065", "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome": "ORPHA:2560", "Tetramelic monodactyly": "ORPHA:2564", "Sommer-Hines syndrome": "ORPHA:2564", "Partial deletion of the long arm of chromosome 9 syndrome": "ORPHA:262074", "Partial deletion of chromosome 9q": "ORPHA:262074", "Partial monosomy of chromosome 9q": "ORPHA:262074", "Partial monosomy of the long arm of chromosome 9": "ORPHA:262074", "Partial deletion of the long arm of chromosome 10 syndrome": "ORPHA:262083", "Partial deletion of chromosome 10q": "ORPHA:262083", "Partial monosomy of chromosome 10q": "ORPHA:262083", "Partial monosomy of the long arm of chromosome 10": "ORPHA:262083", "MOMO syndrome": "ORPHA:2563", "Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome": "ORPHA:2563", "Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome": "ORPHA:2563", "Partial deletion of the long arm of chromosome 11 syndrome": "ORPHA:262092", "Partial deletion of chromosome 11q": "ORPHA:262092", "Partial monosomy of chromosome 11q": "ORPHA:262092", "Partial monosomy of the long arm of chromosome 11": "ORPHA:262092", "Partial deletion of the long arm of chromosome 13 syndrome": "ORPHA:262101", "Partial deletion of chromosome 13q": "ORPHA:262101", "Partial monosomy of chromosome 13q": "ORPHA:262101", "Partial monosomy of the long arm of chromosome 13": "ORPHA:262101", "Mononen-Karnes-Senac syndrome": "ORPHA:2565", "Skeletal dysplasia-brachydactyly syndrome": "ORPHA:2565", "Moynahan syndrome": "ORPHA:2574", "Alopecia-epilepsy-intellectual disability syndrome, Moynahan type": "ORPHA:2574", "Muckle-Wells syndrome": "ORPHA:575", "Neutrophilic urticaria": "ORPHA:575", "Spastic ataxia-corneal dystrophy syndrome": "ORPHA:2572", "Bedouin spastic ataxia syndrome": "ORPHA:2572", "Mousa-Al Din-Al Nassar syndrome": "ORPHA:2572", "Spastic ataxia-ocular anomalies syndrome": "ORPHA:2572", "Moyamoya disease": "ORPHA:2573", "Idiopathic Moyamoya disease": "ORPHA:2573", "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome": "ORPHA:2570", "Morse-Rawnsley-Sargent syndrome": "ORPHA:2570", "X-linked immunoneurologic disorder": "ORPHA:2571", "Woods-Black-Norbury syndrome": "ORPHA:2571", "Moore-Federman syndrome": "ORPHA:2569", "Dwarfism-stiff joint-ocular abnormalities syndrome": "ORPHA:2569", "15q11.2 microdeletion syndrome": "ORPHA:261183", "15q11.2 BP1-BP2 microdeletion syndrome": "ORPHA:261183", "Del(15)(q11.2)": "ORPHA:261183", "Monosomy 15q11.2": "ORPHA:261183", "Ataxia-pancytopenia syndrome": "ORPHA:2585", "Myelocerebellar disorder": "ORPHA:2585", "FOXG1 syndrome due to 14q12 microdeletion": "ORPHA:261144", "Del(14)(q12)": "ORPHA:261144", "Monosomy 14q12": "ORPHA:261144", "OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome": "ORPHA:2580", "14q11.2 microdeletion syndrome": "ORPHA:261120", "Del(14)(q11.2)": "ORPHA:261120", "Monosomy 14q11.2": "ORPHA:261120", "Mayer-Rokitansky-K\u00fcster-Hauser syndrome type 2": "ORPHA:2578", "Atypical MRKH syndrome": "ORPHA:2578", "MRKH syndrome type 2": "ORPHA:2578", "MURCS association": "ORPHA:2578", "M\u00fcllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome": "ORPHA:2578", "Monosomy 9p syndrome": "ORPHA:261112", "9p deletion syndrome": "ORPHA:261112", "9p- syndrome": "ORPHA:261112", "Alfi syndrome": "ORPHA:261112", "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome": "ORPHA:2579", "Furukawa-Takagi-Nakao syndrome": "ORPHA:2579", "Distal 7q11.23 microduplication syndrome": "ORPHA:261102", "Distal dup(7)(q11.23)": "ORPHA:261102", "Distal trisomy 7q11.23": "ORPHA:261102", "Dup7q11.23D": "ORPHA:261102", "Mulibrey nanism": "ORPHA:2576", "MUL": "ORPHA:2576", "Mulibrey growth disorder": "ORPHA:2576", "Muscle-liver-brain-eye nanism": "ORPHA:2576", "16p13.11 microdeletion syndrome": "ORPHA:261236", "Del(16)(p13.11)": "ORPHA:261236", "Monosomy 16p13.11": "ORPHA:261236", "16p13.11 microduplication syndrome": "ORPHA:261243", "Dup(16)(p13.11)": "ORPHA:261243", "Trisomy 16p13.11": "ORPHA:261243", "N syndrome": "ORPHA:2608", "Distal 16p11.2 microdeletion syndrome": "ORPHA:261222", "Distal del(16)(p11.2)": "ORPHA:261222", "Distal monosomy 16p11.2": "ORPHA:261222", "Carney complex": "ORPHA:1359", "Carney syndrome": "ORPHA:1359", "Myxoma-spotty pigmentation-endocrine overactivity syndrome": "ORPHA:1359", "Tubular aggregate myopathy": "ORPHA:2593", "14q11.2 microduplication syndrome": "ORPHA:261229", "Dup(14)(q11.2)": "ORPHA:261229", "Trisomy 14q11.2": "ORPHA:261229", "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome": "ORPHA:2590", "Hereditary myoclonus-progressive distal muscular atrophy syndrome": "ORPHA:2590", "Jankovic-Rivera syndrome": "ORPHA:2590", "SMA-PME": "ORPHA:2590", "16p11.2p12.2 microduplication syndrome": "ORPHA:261204", "Dup(16)(p11.2p12.2)": "ORPHA:261204", "Trisomy 16p11.2p12.2": "ORPHA:261204", "16p11.2p12.2 microdeletion syndrome": "ORPHA:261211", "Del(16)(p11.2p12.2)": "ORPHA:261211", "Monosomy 16p11.2p12.2": "ORPHA:261211", "Myoclonus-cerebellar ataxia-deafness syndrome": "ORPHA:2589", "Myoclonus-cerebellar ataxia-hearing loss syndrome": "ORPHA:2589", "Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion": "ORPHA:261190", "15q14 microdeletion syndrome": "ORPHA:261190", "Del(15)(q14)": "ORPHA:261190", "Monosomy 15q14": "ORPHA:261190", "Myhre syndrome": "ORPHA:2588", "Facial dysmorphism-intellectual disability-short stature-deafness syndrome": "ORPHA:2588", "Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome": "ORPHA:2588", "Myhre-LAPS syndrome": "ORPHA:2588", "Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome": "ORPHA:2588", "Proximal 16p11.2 microdeletion syndrome": "ORPHA:261197", "Proximal del(16)(p11.2)": "ORPHA:261197", "Proximal monosomy 16p11.2": "ORPHA:261197", "OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome": "ORPHA:2621", "OBSOLETE: Christian-Rosenberg syndrome": "ORPHA:2621", "20p12.3 microdeletion syndrome": "ORPHA:261295", "Del(20)(p12.3)": "ORPHA:261295", "Monosomy 20p12.3": "ORPHA:261295", "Paternal 20q13.2q13.3 microdeletion syndrome": "ORPHA:261304", "Paternal del(20)(q13.2q13.3)": "ORPHA:261304", "Paternal monosomy 20q13.2q13.3": "ORPHA:261304", "17q23.1q23.2 microdeletion syndrome": "ORPHA:261279", "Del(17)(q23.1q23.2)": "ORPHA:261279", "Monosomy 17q23.1q23.2": "ORPHA:261279", "Trisomy 17p syndrome": "ORPHA:261290", "Dup(17p)": "ORPHA:261290", "Microcephalic primordial dwarfism, Montreal type": "ORPHA:2617", "Bird-headed dwarfism, Montreal type": "ORPHA:2617", "17q12 microdeletion syndrome": "ORPHA:261265", "Del(17)(q12)": "ORPHA:261265", "Monosomy 17q12": "ORPHA:261265", "17q12 microduplication syndrome": "ORPHA:261272", "Dup(17)(q12)": "ORPHA:261272", "Trisomy 17q12": "ORPHA:261272", "3M syndrome": "ORPHA:2616", "3-M syndrome": "ORPHA:2616", "Yakut short stature syndrome": "ORPHA:2616", "16q24.3 microdeletion syndrome": "ORPHA:261250", "Del(16)(q24.3)": "ORPHA:261250", "Monosomy 16q24.3": "ORPHA:261250", "Nail-patella-like renal disease": "ORPHA:2613", "Salcedo syndrome": "ORPHA:2613", "Distal 17p13.3 microdeletion syndrome": "ORPHA:261257", "Distal del(17)(p13.3 )": "ORPHA:261257", "Distal monosomy 17p13.3": "ORPHA:261257", "Trisomy 1q syndrome": "ORPHA:261344", "Duplication 1q": "ORPHA:261344", "Distal 22q11.2 microduplication syndrome": "ORPHA:261337", "Distal dup(22)(q11.2)": "ORPHA:261337", "Distal trisomy 22q11.2": "ORPHA:261337", "Xp21 deletion syndrome": "ORPHA:261476", "Complex GKD": "ORPHA:261476", "Complex glycerol kinase deficiency": "ORPHA:261476", "Del(X)(p21)": "ORPHA:261476", "Xp21 contiguous gene deletion syndrome": "ORPHA:261476", "Xp21 microdeletion syndrome": "ORPHA:261476", "2p15p16.1 microdeletion syndrome": "ORPHA:261349", "Del(2)(p15p16.1)": "ORPHA:261349", "Monosomy 2p15p16.1": "ORPHA:261349", "Trisomy 20p syndrome": "ORPHA:261318", "Dup(20p)": "ORPHA:261318", "Duplication of 20p": "ORPHA:261318", "Partial duplication of chromosome 20p": "ORPHA:261318", "Partial duplication of the short arm of chromosome 20": "ORPHA:261318", "Partial trisomy of chromosome 20p": "ORPHA:261318", "Partial trisomy of the short arm of chromosome 20": "ORPHA:261318", "20q13.33 microdeletion syndrome": "ORPHA:261311", "Del(20)(q13.33)": "ORPHA:261311", "Monosomy 20q13.33": "ORPHA:261311", "Geleophysic dysplasia": "ORPHA:2623", "Geleophysic dwarfism": "ORPHA:2623", "Distal 22q11.2 microdeletion syndrome": "ORPHA:261330", "Distal del(22)(q11.2)": "ORPHA:261330", "Distal monosomy 22q11.2": "ORPHA:261330", "21q22.11q22.12 microdeletion syndrome": "ORPHA:261323", "Del(21)(q22.11q22.12)": "ORPHA:261323", "Monosomy 21q22.11q22.12": "ORPHA:261323", "Paternal uniparental disomy of chromosome X syndrome": "ORPHA:261524", "UPD(X)pat": "ORPHA:261524", "Fibular aplasia-complex brachydactyly syndrome": "ORPHA:2639", "Du Pan syndrome": "ORPHA:2639", "Maternal uniparental disomy of chromosome X syndrome": "ORPHA:261519", "UPD(X)mat": "ORPHA:261519", "49,XXXYY syndrome": "ORPHA:261534", "Lethal short-limb dwarfism, McAlister-Crane type": "ORPHA:2640", "McAlister-Crane syndrome": "ORPHA:2640", "Ring chromosome Y syndrome": "ORPHA:261529", "Ring chromosome Y": "ORPHA:261529", "r(Y)": "ORPHA:261529", "OBSOLETE: Micromelic dwarfism, Fryns type": "ORPHA:2641", "Mesomelic dwarfism-cleft palate-camptodactyly syndrome": "ORPHA:2631", "Mesomelic dysplasia, Kozlowski-Reardon type": "ORPHA:2631", "Mesomelic dysplasia, Reardon type": "ORPHA:2631", "Reardon-Hall-Slaney syndrome": "ORPHA:2631", "Kleefstra syndrome": "ORPHA:261494", "Xq27.3q28 duplication syndrome": "ORPHA:261483", "Dup(X)(q27.3q28)": "ORPHA:261483", "Trisomy Xq27.3-q28": "ORPHA:261483", "Trisomy Xq27.3q28": "ORPHA:261483", "Xq27.3-q28 microduplication syndrome": "ORPHA:261483", "Langer mesomelic dysplasia": "ORPHA:2632", "Mesomelic dwarfism, Langer type": "ORPHA:2632", "OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3": "ORPHA:261512", "OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion": "ORPHA:261512", "OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)": "ORPHA:261512", "Mesomelic dysplasia, Nievergelt type": "ORPHA:2633", "Mesomelic dwarfism, Nievergelt type": "ORPHA:2633", "Nievergelt syndrome": "ORPHA:2633", "Atypical Norrie disease due to Xp11.3 microdeletion": "ORPHA:261501", "Atypical Norrie disease due to del(X)(p11.3)": "ORPHA:261501", "Atypical Norrie disease due to nullisomy Xp11.3": "ORPHA:261501", "Mesomelic dwarfism, Reinhardt-Pfeiffer type": "ORPHA:2634", "Reinhardt-Pfeiffer mesomelic dysplasia": "ORPHA:2634", "Reinhardt-Pfeiffer syndrome": "ORPHA:2634", "Parastremmatic dysplasia": "ORPHA:2646", "Parastremmatic dwarfism": "ORPHA:2646", "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations": "ORPHA:261579", "OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations": "ORPHA:261579", "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV": "ORPHA:261579", "Osteoglosphonic dysplasia": "ORPHA:2645", "Osteoglophonic dwarfism": "ORPHA:2645", "Familial adenomatous polyposis due to 5q22.2 microdeletion": "ORPHA:261584", "Colorectal adenomatous polyposis due to monosomy 5q22.2": "ORPHA:261584", "FAP due to monosomy 5q22.2": "ORPHA:261584", "Familial adenomatous polyposis due to del(5)(q22.2)": "ORPHA:261584", "Familial adenomatous polyposis due to monosomy 5q22.2": "ORPHA:261584", "Familial polyposis coli due to monosomy 5q22.2": "ORPHA:261584", "Alagille syndrome due to 20p12 microdeletion": "ORPHA:261600", "Alagille syndrome due to del(20)(p12)": "ORPHA:261600", "Alagille syndrome due to monosomy 20p12": "ORPHA:261600", "Alagille-Watson syndrome due to monosomy 20p12": "ORPHA:261600", "Arteriohepatic dysplasia due to monosomy 20p12": "ORPHA:261600", "Syndromic bile duct paucity due to monosomy 20p12": "ORPHA:261600", "Alagille syndrome due to a JAG1 point mutation": "ORPHA:261619", "Alagille-Watson syndrome due to a JAG1 point mutation": "ORPHA:261619", "Arteriohepatic dysplasia due to a JAG1 point mutation": "ORPHA:261619", "Syndromic bile duct paucity due to a JAG1 point mutation": "ORPHA:261619", "Mowat-Wilson syndrome due to monosomy 2q22": "ORPHA:261537", "Hirschsprung disease and intellectual disability due to 2q22 microdeletion": "ORPHA:261537", "Hirschsprung disease and intellectual disability due to del(2)(q22)": "ORPHA:261537", "Hirschsprung disease and intellectual disability due to monosomy 2q22": "ORPHA:261537", "Mowat-Wilson syndrome due to 2q22 microdeletion": "ORPHA:261537", "Mowat-Wilson syndrome due to del(2)q(22)": "ORPHA:261537", "Microcephalic primordial dwarfism, Toriello type": "ORPHA:2643", "Mowat-Wilson syndrome due to a ZEB2 point mutation": "ORPHA:261552", "Hirschsprung disease and intellectual disability due to a ZEB2 point mutation": "ORPHA:261552", "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome": "ORPHA:261559", "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome": "ORPHA:261572", "OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation": "ORPHA:261572", "Microcephalic osteodysplastic primordial dwarfism types I and III": "ORPHA:2636", "MOPD types I and III": "ORPHA:2636", "Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type": "ORPHA:2636", "Primordial microcephalic dwarfism, Crachami type": "ORPHA:2636", "Taybi-Linder syndrome": "ORPHA:2636", "OBSOLETE: Anomaly of chromosome 1": "ORPHA:261697", "Lenz-Majewski hyperostotic dwarfism": "ORPHA:2658", "OBSOLETE: Anomaly of chromosome 2": "ORPHA:261700", "OBSOLETE: Anomaly of chromosome 3": "ORPHA:261703", "OBSOLETE: Anomaly of chromosome 4": "ORPHA:261706", "Alagille syndrome due to a NOTCH2 point mutation": "ORPHA:261629", "Alagille-Watson syndrome due to a NOTCH2 point mutation": "ORPHA:261629", "Arteriohepatic dysplasia due to a NOTCH2 point mutation": "ORPHA:261629", "Syndromic bile duct paucity due to a NOTCH2 point mutation": "ORPHA:261629", "Okihiro syndrome due to 20q13 microdeletion": "ORPHA:261638", "Duane-radial ray syndrome due to monosomy 20q13": "ORPHA:261638", "Okihiro syndrome due to del(20)(q13)": "ORPHA:261638", "Okihiro syndrome due to monosomy 20q13": "ORPHA:261638", "OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome": "ORPHA:2650", "OBSOLETE: Mollica-Pavone-Antener syndrome": "ORPHA:2650", "Okihiro syndrome due to a point mutation": "ORPHA:261647", "Duane-radial ray syndrome due to a point mutation": "ORPHA:261647", "Syndesmodysplasic dwarfism": "ORPHA:2654", "Laplane-Fontaine-Lagardere syndrome": "ORPHA:2654", "Kleefstra syndrome due to a point mutation": "ORPHA:261652", "OBSOLETE: X-linked intellectual disability, Raynaud type": "ORPHA:3061", "14q22q23 microdeletion syndrome": "ORPHA:264200", "14q22-q23 microdeletion syndrome": "ORPHA:264200", "Del(14)(q22q23)": "ORPHA:264200", "Monosomy 14q22-q23": "ORPHA:264200", "Monosomy 14q22q23": "ORPHA:264200", "OBSOLETE: Y chromosomal anomaly": "ORPHA:263798", "OBSOLETE: X-linked intellectual disability, Schutz type": "ORPHA:3062", "X-linked intellectual disability, Gu type": "ORPHA:3059", "MRX35": "ORPHA:3059", "Uniparental disomy of chromosome X syndrome": "ORPHA:263793", "UPD(X)": "ORPHA:263793", "Partial duplication of the long arm of chromosome X syndrome": "ORPHA:263783", "Partial duplication of chromosome Xq": "ORPHA:263783", "Partial trisomy of chromosome Xq": "ORPHA:263783", "Partial trisomy of the long arm of chromosome X": "ORPHA:263783", "X-linked intellectual disability, Brooks type": "ORPHA:3056", "Partial duplication of the short arm of chromosome X syndrome": "ORPHA:263775", "Partial duplication of chromosome Xp": "ORPHA:263775", "Partial trisomy of chromosome Xp": "ORPHA:263775", "Partial trisomy of the short arm of chromosome X": "ORPHA:263775", "Partial duplication of chromosome X syndrome": "ORPHA:263768", "Partial trisomy of chromosome X": "ORPHA:263768", "Monoamine oxidase A deficiency": "ORPHA:3057", "Brunner syndrome": "ORPHA:3057", "OBSOLETE: X-linked intellectual disability, Martinez type": "ORPHA:775", "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome": "ORPHA:3055", "Young-Hughes syndrome": "ORPHA:3055", "Partial deletion of the long arm of chromosome X syndrome": "ORPHA:263756", "Partial deletion of chromosome Xq": "ORPHA:263756", "Partial monosomy of chromosome Xq": "ORPHA:263756", "Partial monosomy of the long arm of chromosome X": "ORPHA:263756", "X and Y chromosomal anomaly syndrome": "ORPHA:263749", "Y chromosome number anomaly syndrome": "ORPHA:263746", "OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome": "ORPHA:3050", "OBSOLETE: Medrano-Roldan syndrome": "ORPHA:3050", "X-linked intellectual disability-seizures-psoriasis syndrome": "ORPHA:3052", "Tranebjaerg-Svejgaard syndrome": "ORPHA:3052", "Partial deletion of the short arm of the chromosome X syndrome": "ORPHA:263731", "Partial deletion of chromosome Xp": "ORPHA:263731", "Partial deletion of the short arm of chromosome X": "ORPHA:263731", "Partial monosomy of chromosome Xp": "ORPHA:263731", "Partial monosomy of the short arm of chromosome X": "ORPHA:263731", "OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type": "ORPHA:3046", "OBSOLETE: Davis-Lafer syndrome": "ORPHA:3046", "Partial deletion of chromosome X syndrome": "ORPHA:263726", "Partial monosomy of chromosome X": "ORPHA:263726", "Blepharophimosis-intellectual disability syndrome, SBBYS type": "ORPHA:3047", "Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome": "ORPHA:3047", "SBBYS variant of Ohdo syndrome": "ORPHA:3047", "SBBYSS": "ORPHA:3047", "Say-Barber-Biesecker-Young-Simpson syndrome": "ORPHA:3047", "Polysomy of X chromosome syndrome": "ORPHA:263723", "OBSOLETE: Intellectual disability-unusual facies syndrome": "ORPHA:3043", "OBSOLETE: Morillo Cucci-Passarge syndrome": "ORPHA:3043", "X chromosome number anomaly with male phenotype syndrome": "ORPHA:263720", "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome": "ORPHA:3044", "X chromosome number anomaly syndrome": "ORPHA:263714", "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome": "ORPHA:3042", "Primrose syndrome": "ORPHA:3042", "X chromosome number anomaly with female phenotype syndrome": "ORPHA:263717", "Intellectual disability-balding-patella luxation-acromicria syndrome": "ORPHA:3041", "Scholte-Begeer-van Essen syndrome": "ORPHA:3041", "Complex chromosomal rearrangement syndrome": "ORPHA:263708", "OBSOLETE: X chromosome anomaly": "ORPHA:263711", "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome": "ORPHA:3038", "Mehes syndrome": "ORPHA:3038", "NK-cell enteropathy": "ORPHA:263665", "OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features": "ORPHA:263676", "OBSOLETE: Peeling skin syndrome type C": "ORPHA:263558", "OBSOLETE: Generalized deciduous skin type C": "ORPHA:263558", "OBSOLETE: Generalized peeling skin syndrome type C": "ORPHA:263558", "Growth delay-hydrocephaly-lung hypoplasia syndrome": "ORPHA:3035", "Game-Friedman-Paradice syndrome": "ORPHA:3035", "Familial multiple meningioma": "ORPHA:263662", "Delayed membranous cranial ossification": "ORPHA:3034", "Gonzales-del Angel syndrome": "ORPHA:3034", "Peeling skin syndrome type A": "ORPHA:263548", "Generalized peeling skin syndrome type A": "ORPHA:263548", "Non-inflammatory generalized peeling skin syndrome type A.": "ORPHA:263548", "Non-inflammatory peeling skin syndrome type A": "ORPHA:263548", "PSS type A": "ORPHA:263548", "Renal tubular dysgenesis": "ORPHA:3033", "Primitive renal tubule syndrome": "ORPHA:3033", "Renotubular dysgenesis": "ORPHA:3033", "Peeling skin syndrome type B": "ORPHA:263553", "Generalized peeling skin disease type B": "ORPHA:263553", "Generalized peeling skin syndrome type B": "ORPHA:263553", "Inflammatory peeling skin disease": "ORPHA:263553", "Inflammatory peeling skin syndrome": "ORPHA:263553", "PSS type B": "ORPHA:263553", "PSS1": "ORPHA:263553", "Peeling skin syndrome 1": "ORPHA:263553", "NPHP3-related Meckel-like syndrome": "ORPHA:3032", "Goldston syndrome": "ORPHA:3032", "Meckel syndrome type 7": "ORPHA:3032", "Meckel-like syndrome type 1": "ORPHA:3032", "Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome": "ORPHA:3032", "Acral peeling skin syndrome": "ORPHA:263534", "Acral PSS": "ORPHA:263534", "Localized PSS": "ORPHA:263534", "PSS 2": "ORPHA:263534", "Peeling skin syndrome 2": "ORPHA:263534", "Generalized peeling skin syndrome": "ORPHA:263543", "Generalized PSS": "ORPHA:263543", "Generalized deciduous skin": "ORPHA:263543", "Progressive myoclonic epilepsy type 3": "ORPHA:263516", "EPM3": "ORPHA:263516", "PME type 3": "ORPHA:263516", "Progressive myoclonic epilepsy due to KCTD7 deficiency": "ORPHA:263516", "Progressive myoclonus epilepsy type 3": "ORPHA:263516", "NON RARE IN EUROPE: Horseshoe kidney": "ORPHA:3029", "Acute necrotizing encephalopathy of childhood": "ORPHA:263524", "ANEC": "ORPHA:263524", "Isolated ANE": "ORPHA:263524", "Isolated acute necrotizing encephalopathy": "ORPHA:263524", "COG4-CDG": "ORPHA:263501", "CDG syndrome type IIj": "ORPHA:263501", "CDG-IIj": "ORPHA:263501", "CDG2J": "ORPHA:263501", "Carbohydrate deficient glycoprotein syndrome type IIj": "ORPHA:263501", "Congenital disorder of glycosylation type 2j": "ORPHA:263501", "Congenital disorder of glycosylation type IIj": "ORPHA:263501", "Radial ray hypoplasia-choanal atresia syndrome": "ORPHA:3026", "Goldblatt-Viljoen syndrome": "ORPHA:3026", "COG1-CDG": "ORPHA:263508", "CDG syndrome type IIg": "ORPHA:263508", "CDG-IIg": "ORPHA:263508", "CDG2G": "ORPHA:263508", "Carbohydrate deficient glycoprotein syndrome type IIg": "ORPHA:263508", "Congenital disorder of glycosylation type 2g": "ORPHA:263508", "Congenital disorder of glycosylation type IIg": "ORPHA:263508", "Spondyloepimetaphyseal dysplasia, Maroteaux type": "ORPHA:263482", "Pseudo-Morquio syndrome type 2": "ORPHA:263482", "Pseudo-Morquio type II syndrome": "ORPHA:263482", "SEMD, Maroteaux type": "ORPHA:263482", "SEMD-M": "ORPHA:263482", "RAPADILINO syndrome": "ORPHA:3021", "Rapp-Hodgkin syndrome": "ORPHA:3022", "Anhidrotic ectodermic dysplasia-cleft lip/palate syndrome": "ORPHA:3022", "Ectodermal dysplasia syndrome, Rapp-Hodgkin type": "ORPHA:3022", "Ectodermal dysplasia, Rapp-Hodgkin type": "ORPHA:3022", "RHS": "ORPHA:3022", "Fuchs heterochromic iridocyclitis": "ORPHA:263479", "FHI": "ORPHA:276525", "DPM3-CDG": "ORPHA:263494", "CDG syndrome type Io": "ORPHA:263494", "CDG-Io": "ORPHA:263494", "CDG1O": "ORPHA:263494", "Carbohydrate deficient glycoprotein syndrome type Io": "ORPHA:263494", "Congenital disorder of glycosylation type 1o": "ORPHA:263494", "Congenital disorder of glycosylation type Io": "ORPHA:263494", "External auditory canal atresia-vertical talus-hypertelorism syndrome": "ORPHA:3023", "Rasmussen-Johnsen-Thomsen syndrome": "ORPHA:3023", "COG5-CDG": "ORPHA:263487", "CDG syndrome type IIi": "ORPHA:263487", "CDG-IIi": "ORPHA:263487", "CDG2I": "ORPHA:263487", "Carbohydrate deficient glycoprotein syndrome type IIi": "ORPHA:263487", "Congenital disorder of glycosylation type 2i": "ORPHA:263487", "Congenital disorder of glycosylation type IIi": "ORPHA:263487", "Hyperinsulinism due to INSR deficiency": "ORPHA:263458", "Hyperinsulinemic hypoglycemia due to INSR deficiency": "ORPHA:263458", "Hyperinsulinemic hypoglycemia due to insulin receptor deficiency": "ORPHA:263458", "Congenital hyperinsulinism due to HNF4A deficiency": "ORPHA:263455", "Hyperinsulinemic hypoglycemia due to HNF4A deficiency": "ORPHA:263455", "Osteosclerotic bone dysplasia": "ORPHA:1832", "Raine syndrome": "ORPHA:1832", "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome": "ORPHA:3018", "Rambaud-Gallian syndrome": "ORPHA:3018", "Rambaud-Gallian-Touchard syndrome": "ORPHA:3018", "Ramon syndrome": "ORPHA:3019", "Cherubism-gingival fibromatosis-intellectual disability syndrome": "ORPHA:3019", "CHST3-related skeletal dysplasia": "ORPHA:263463", "Chondrodysplasia with congenital joint dislocations, CHST3 type": "ORPHA:263463", "SDCD, CHST3 type": "ORPHA:263463", "Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type": "ORPHA:263463", "Nevus of Ito": "ORPHA:263432", "Nevus fuscocaeruleus acromiodeltoideus": "ORPHA:263432", "Nevus of Ota": "ORPHA:263425", "Nevus fusculoceruleus ophthalmomaxillaris": "ORPHA:263425", "Radio-renal syndrome": "ORPHA:3015", "Neuroacanthocytosis": "ORPHA:263440", "Congenital smooth muscle hamartoma": "ORPHA:263435", "Absent radius-anogenital anomalies syndrome": "ORPHA:3016", "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome": "ORPHA:263410", "Qazi-Markouizos syndrome": "ORPHA:3010", "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome": "ORPHA:3010", "OBSOLETE: ATR-X-related syndrome": "ORPHA:263355", "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome": "ORPHA:3011", "Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome": "ORPHA:3011", "Bartter syndrome with hypocalcemia": "ORPHA:263417", "Rabson-Mendenhall syndrome": "ORPHA:769", "Angiosarcoma": "ORPHA:263413", "Pyknoachondrogenesis": "ORPHA:3003", "Camera syndrome": "ORPHA:3003", "Moderately-differentiated thymic neuroendocrine carcinoma": "ORPHA:263335", "Poorly differentiated thymic neuroendocrine carcinoma": "ORPHA:263339", "Pyle disease": "ORPHA:3005", "Metaphyseal dysplasia, Pyle type": "ORPHA:3005", "SFRP4-related Pyle disease": "ORPHA:3005", "MRCS syndrome": "ORPHA:263347", "Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome": "ORPHA:263347", "Postcardiotomy right ventricular failure": "ORPHA:263352", "Mirror polydactyly-vertebral segmentation-limbs defects syndrome": "ORPHA:3004", "Thymoma type A": "ORPHA:263310", "Primary thymic epithelial neoplasm type A": "ORPHA:263310", "Primary thymic epithelial tumor type A": "ORPHA:263310", "Ptosis-vocal cord paralysis syndrome": "ORPHA:2997", "Tucker syndrome": "ORPHA:2997", "Thymoma type B": "ORPHA:263317", "Primary thymic epithelial neoplasm type B": "ORPHA:263317", "Primary thymic epithelial tumor type B": "ORPHA:263317", "Thymoma type AB": "ORPHA:263324", "Primary thymic epithelial neoplasm type AB": "ORPHA:263324", "Primary thymic epithelial tumor type AB": "ORPHA:263324", "Ptosis-strabismus-ectopic pupils syndrome": "ORPHA:2999", "McPherson-Hall syndrome": "ORPHA:2999", "Well-differentiated thymic neuroendocrine carcinoma": "ORPHA:263331", "Carnevale syndrome": "ORPHA:2998", "3MC2 syndrome": "ORPHA:2998", "Carnevale-Krajewska-Fischetto syndrome": "ORPHA:2998", "Mingarelli syndrome": "ORPHA:2998", "OSA syndrome": "ORPHA:2998", "Oculo-skeletal-abdominal syndrome": "ORPHA:2998", "Ptosis-strabismus-rectus abdominis diastasis syndrome": "ORPHA:2998", "OBSOLETE: Uniparental disomy of chromosome 15": "ORPHA:263054", "OBSOLETE: UPD(15)": "ORPHA:263054", "OBSOLETE: Uniparental disomy of chromosome 20": "ORPHA:263059", "OBSOLETE: UPD(20)": "ORPHA:263059", "Autosomal recessive multiple pterygium syndrome": "ORPHA:2990", "Autosomal recessive non-lethal multiple pterygium syndrome": "ORPHA:2990", "EVMPS": "ORPHA:2990", "Escobar syndrome": "ORPHA:2990", "Escobar variant multiple pterygium syndrome": "ORPHA:2990", "OBSOLETE: Uniparental disomy of chromosome 21": "ORPHA:263064", "OBSOLETE: UPD(21)": "ORPHA:263064", "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency": "ORPHA:263297", "GSD type 15": "ORPHA:263297", "GSD type XV": "ORPHA:263297", "GSD with severe cardiomyopathy due to glycogenin deficiency": "ORPHA:263297", "Glycogen storage disease type 15": "ORPHA:263297", "Glycogen storage disease type XV": "ORPHA:263297", "Glycogenosis type 15": "ORPHA:263297", "Glycogenosis type XV": "ORPHA:263297", "Glycogenosis with severe cardiomyopathy due to glycogenin deficiency": "ORPHA:263297", "OBSOLETE: Uniparental disomy of chromosome 11": "ORPHA:263034", "OBSOLETE: UPD(11)": "ORPHA:263034", "Antecubital pterygium syndrome": "ORPHA:2987", "Pseudoprogeria syndrome": "ORPHA:2985", "Absent eyebrows and eyelashes-intellectual disability syndrome": "ORPHA:2985", "Hal-Berg-Rudolph syndrome": "ORPHA:2985", "OBSOLETE: Uniparental disomy of chromosome 13": "ORPHA:263044", "OBSOLETE: UPD(13)": "ORPHA:263044", "Familial pterygium of the conjunctiva": "ORPHA:2989", "OBSOLETE: Uniparental disomy of chromosome 14": "ORPHA:263049", "OBSOLETE: UPD(14)": "ORPHA:263049", "Pterygium colli-intellectual disability-digital anomalies syndrome": "ORPHA:2988", "Khalifa-Graham syndrome": "ORPHA:2988", "Partial duplication of the long arm of chromosome 20 syndrome": "ORPHA:262995", "Partial duplication of chromosome 20q": "ORPHA:262995", "Partial trisomy of chromosome 20q": "ORPHA:262995", "Partial trisomy of the long arm of chromosome 20": "ORPHA:262995", "Partial duplication of the long arm of chromosome 19 syndrome": "ORPHA:262986", "Partial duplication of chromosome 19q": "ORPHA:262986", "Partial trisomy of chromosome 19q": "ORPHA:262986", "Partial trisomy of the long arm of chromosome 19": "ORPHA:262986", "Ulnar-mammary syndrome": "ORPHA:3138", "Pallister ulnar-mammary syndrome": "ORPHA:3138", "Schinzel syndrome": "ORPHA:3138", "UMS": "ORPHA:3138", "Partial duplication of the long arm of chromosome 18 syndrome": "ORPHA:262977", "Partial duplication of chromosome 18q": "ORPHA:262977", "Partial trisomy of chromosome 18q": "ORPHA:262977", "Partial trisomy of the long arm of chromosome 18": "ORPHA:262977", "Partial duplication of the long arm of chromosome 17 syndrome": "ORPHA:262968", "Partial duplication of chromosome 17q": "ORPHA:262968", "Partial trisomy of chromosome 17q": "ORPHA:262968", "Partial trisomy of the long arm of chromosome 17": "ORPHA:262968", "OBSOLETE: Uniparental disomy of chromosome 7": "ORPHA:263029", "OBSOLETE: UPD(7)": "ORPHA:263029", "Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome": "ORPHA:3145", "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome": "ORPHA:3145", "OBSOLETE: Uniparental disomy of chromosome 6": "ORPHA:263024", "OBSOLETE: UPD(6)": "ORPHA:263024", "OBSOLETE: Uniparental disomy of chromosome 1": "ORPHA:263019", "OBSOLETE: UPD(1)": "ORPHA:263019", "Autoimmune polyendocrinopathy type 2": "ORPHA:3143", "APS type 2": "ORPHA:3143", "APS2": "ORPHA:3143", "Autoimmune polyendocrine syndrome type 2": "ORPHA:3143", "Autoimmune polyglandular syndrome type 2": "ORPHA:3143", "Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome": "ORPHA:3143", "Schmidt syndrome": "ORPHA:3143", "Schneckenbecken dysplasia": "ORPHA:3144", "Chondrodysplasia with snail-like pelvis": "ORPHA:3144", "SLC35D1-CDG": "ORPHA:3144", "Partial duplication of the long arm of chromosome 22 syndrome": "ORPHA:263004", "Partial duplication of chromosome 22q": "ORPHA:263004", "Partial trisomy of chromosome 22q": "ORPHA:263004", "Partial trisomy of the long arm of chromosome 22": "ORPHA:263004", "Partial duplication of the long arm of chromosome 11 syndrome": "ORPHA:262923", "Partial duplication of chromosome 11q": "ORPHA:262923", "Partial trisomy of chromosome 11q": "ORPHA:262923", "Partial trisomy of the long arm of chromosome 11": "ORPHA:262923", "Say-Barber-Miller syndrome": "ORPHA:3132", "Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome": "ORPHA:3132", "Partial duplication of the long arm of chromosome 10 syndrome": "ORPHA:262914", "Partial duplication of chromosome 10q": "ORPHA:262914", "Partial trisomy of chromosome 10q": "ORPHA:262914", "Partial trisomy of the long arm of chromosome 10": "ORPHA:262914", "Partial duplication of the long arm of chromosome 9 syndrome": "ORPHA:262905", "Partial duplication of chromosome 9q": "ORPHA:262905", "Partial trisomy of chromosome 9q": "ORPHA:262905", "Partial trisomy of the long arm of chromosome 9": "ORPHA:262905", "OBSOLETE: Sakati-Nyhan syndrome": "ORPHA:3128", "OBSOLETE: ACPS III": "ORPHA:3128", "OBSOLETE: ACPS with leg hypoplasia": "ORPHA:3128", "OBSOLETE: Acrocephalopolysyndactyly type 3": "ORPHA:3128", "OBSOLETE: Sakati syndrome": "ORPHA:3128", "OBSOLETE: Sakati-Nyhan-Tisdale syndrome": "ORPHA:3128", "Satoyoshi syndrome": "ORPHA:3130", "Komuragaeri disease": "ORPHA:3130", "Partial duplication of the long arm of chromosome 8 syndrome": "ORPHA:262896", "Partial duplication of chromosome 8q": "ORPHA:262896", "Partial trisomy of chromosome 8q": "ORPHA:262896", "Partial trisomy of the long arm of chromosome 8": "ORPHA:262896", "Partial duplication of the long arm of chromosome 16 syndrome": "ORPHA:262959", "Partial duplication of chromosome 16q": "ORPHA:262959", "Partial trisomy of chromosome 16q": "ORPHA:262959", "Partial trisomy of the long arm of chromosome 16": "ORPHA:262959", "Schinzel-Giedion syndrome": "ORPHA:798", "Partial duplication of the long arm of chromosome 15 syndrome": "ORPHA:262950", "Partial duplication of chromosome 15q": "ORPHA:262950", "Partial trisomy of chromosome 15q": "ORPHA:262950", "Partial trisomy of the long arm of chromosome 15": "ORPHA:262950", "OBSOLETE: Say-Field-Coldwell syndrome": "ORPHA:3133", "OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome": "ORPHA:3133", "Partial duplication of the long arm of chromosome 14 syndrome": "ORPHA:262941", "Partial duplication of chromosome 14q": "ORPHA:262941", "Partial trisomy of chromosome 14q": "ORPHA:262941", "Partial trisomy of the long arm of chromosome 14": "ORPHA:262941", "SCARF syndrome": "ORPHA:3134", "Partial duplication of the long arm of chromosome 13 syndrome": "ORPHA:262932", "Partial duplication of chromosome 13q": "ORPHA:262932", "Partial trisomy of chromosome 13q": "ORPHA:262932", "Partial trisomy of the long arm of chromosome 13": "ORPHA:262932", "Ruvalcaba syndrome": "ORPHA:3121", "Partial duplication of the long arm of chromosome 2 syndrome": "ORPHA:262842", "Partial duplication of chromosome 2q": "ORPHA:262842", "Partial trisomy of chromosome 2q": "ORPHA:262842", "Partial trisomy of the long arm of chromosome 2": "ORPHA:262842", "Partial duplication of the long arm of chromosome 3 syndrome": "ORPHA:262851", "Partial duplication of chromosome 3q": "ORPHA:262851", "Partial trisomy of chromosome 3q": "ORPHA:262851", "Rudiger syndrome": "ORPHA:3118", "Partial duplication of the long arm of chromosome 1 syndrome": "ORPHA:262833", "Partial duplication of chromosome 1q": "ORPHA:262833", "Partial trisomy of chromosome 1q": "ORPHA:262833", "Partial trisomy of the long arm of chromosome 1": "ORPHA:262833", "Partial duplication of the long arm of chromosome 6 syndrome": "ORPHA:262878", "Partial duplication of chromosome 6q": "ORPHA:262878", "Partial trisomy of chromosome 6q": "ORPHA:262878", "Partial trisomy of the long arm of chromosome 6": "ORPHA:262878", "Partial duplication of the long arm of chromosome 7 syndrome": "ORPHA:262887", "Partial duplication of chromosome 7q": "ORPHA:262887", "Partial trisomy of chromosome 7q": "ORPHA:262887", "Partial trisomy of the long arm of chromosome 7": "ORPHA:262887", "Partial duplication of the long arm of chromosome 4 syndrome": "ORPHA:262860", "Partial duplication of chromosome 4q": "ORPHA:262860", "Partial trisomy of chromosome 4q": "ORPHA:262860", "Partial trisomy of the long arm of chromosome 4": "ORPHA:262860", "Brittle hair syndrome, Sabinas type": "ORPHA:3123", "Brittle hair-mental deficiency syndrome": "ORPHA:3123", "Trichothiodystrophy type B": "ORPHA:3123", "Partial duplication of the long arm of chromosome 5 syndrome": "ORPHA:262869", "Partial duplication of chromosome 5q": "ORPHA:262869", "Partial trisomy of chromosome 5q": "ORPHA:262869", "Partial trisomy of the long arm of chromosome 5": "ORPHA:262869", "OBSOLETE: Sinus node disease-myopia syndrome": "ORPHA:3122", "Partial duplication/triplication of the short arm of chromosome 9 syndrome": "ORPHA:262767", "Partial duplication of chromosome 9p": "ORPHA:262767", "Partial duplication of the short arm of chromosome 9": "ORPHA:262767", "Partial tetrasomy of chromosome 9p": "ORPHA:262767", "Partial triplication of chromosome 9p": "ORPHA:262767", "Partial trisomy of chromosome 9p": "ORPHA:262767", "Partial trisomy/tetrasomy of the short arm of chromosome 9": "ORPHA:262767", "Patella aplasia-coxa vara-tarsal synostosis syndrome": "ORPHA:3112", "Partial duplication of the short arm of chromosome 10 syndrome": "ORPHA:262776", "Partial duplication of chromosome 10p": "ORPHA:262776", "Partial trisomy of chromosome 10p": "ORPHA:262776", "Partial trisomy of the short arm of chromosome 10": "ORPHA:262776", "Rothmund-Thomson syndrome": "ORPHA:2909", "Poikiloderma of Rothmund-Thomson": "ORPHA:2909", "RTS": "ORPHA:2909", "Partial duplication of the short arm of chromosome 7 syndrome": "ORPHA:262749", "Partial duplication of chromosome 7p": "ORPHA:262749", "Partial trisomy of chromosome 7p": "ORPHA:262749", "Partial trisomy of the short arm of chromosome 7": "ORPHA:262749", "Rombo syndrome": "ORPHA:3110", "Partial duplication of the short arm of chromosome 8 syndrome": "ORPHA:262758", "Partial duplication of chromosome 8p": "ORPHA:262758", "Partial trisomy of chromosome 8p": "ORPHA:262758", "Partial trisomy of the short arm of chromosome 8": "ORPHA:262758", "Partial duplication of the short arm of chromosome 17 syndrome": "ORPHA:262803", "Partial duplication of chromosome 17p": "ORPHA:262803", "Partial trisomy of chromosome 17p": "ORPHA:262803", "Partial trisomy of the short arm of chromosome 17": "ORPHA:262803", "Ichthyosis-male hypogonadism syndrome": "ORPHA:431", "Partial duplication/triplication of the short arm of chromosome 18 syndrome": "ORPHA:262812", "Partial duplication/triplication of chromosome 18p": "ORPHA:262812", "Partial trisomy/tetrasomy of chromosome 18p": "ORPHA:262812", "Partial trisomy/tetrasomy of the short arm of chromosome 18": "ORPHA:262812", "Roussy-L\u00e9vy syndrome": "ORPHA:3115", "Hereditary areflexic dystasia, Roussy-L\u00e9vy type": "ORPHA:3115", "Partial duplication of the short arm of chromosome 11 syndrome": "ORPHA:262785", "Partial duplication of chromosome 11p": "ORPHA:262785", "Partial trisomy of chromosome 11p": "ORPHA:262785", "Partial trisomy of the short arm of chromosome 11": "ORPHA:262785", "Partial duplication of the short arm of chromosome 16 syndrome": "ORPHA:262794", "Partial duplication of chromosome 16p": "ORPHA:262794", "Partial trisomy of chromosome 16p": "ORPHA:262794", "Partial trisomy of the short arm of chromosome 16": "ORPHA:262794", "Richieri Costa-da Silva syndrome": "ORPHA:3101", "Myotonia-intellectual disability-skeletal anomalies syndrome": "ORPHA:3101", "Partial duplication of chromosome 19 syndrome": "ORPHA:262687", "Partial trisomy of chromosome 19": "ORPHA:262687", "Richieri Costa-Pereira syndrome": "ORPHA:3102", "Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome": "ORPHA:3102", "Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome": "ORPHA:3102", "Partial duplication/triplication of chromosome 18 syndrome": "ORPHA:262682", "Partial trisomy/tetrasomy of chromosome 18": "ORPHA:262682", "Robin sequence-oligodactyly syndrome": "ORPHA:3104", "Pierre Robin sequence-oligodactyly syndrome": "ORPHA:3104", "Partial duplication of the short arm of chromosome 2 syndrome": "ORPHA:262698", "Partial duplication of chromosome 2p": "ORPHA:262698", "Partial trisomy of chromosome 2p": "ORPHA:262698", "Robinow-like syndrome": "ORPHA:3105", "Saal-Greenstein syndrome": "ORPHA:3105", "Partial duplication of chromosome 20 syndrome": "ORPHA:262692", "Partial trisomy of chromosome 20": "ORPHA:262692", "Robinow-Sorauf syndrome": "ORPHA:3106", "Partial duplication of the short arm of chromosome 4 syndrome": "ORPHA:262716", "Partial duplication of chromosome 4p": "ORPHA:262716", "Partial trisomy of chromosome 4p": "ORPHA:262716", "Partial trisomy of the short arm of chromosome 4": "ORPHA:262716", "Partial duplication of the short arm of chromosome 3 syndrome": "ORPHA:262707", "Partial duplication of chromosome 3p": "ORPHA:262707", "Partial trisomy of chromosome 3p": "ORPHA:262707", "Partial trisomy of the short arm of chromosome 3": "ORPHA:262707", "Autosomal dominant Robinow syndrome": "ORPHA:3107", "Partial duplication of the short arm of chromosome 6 syndrome": "ORPHA:262740", "Partial duplication of chromosome 6p": "ORPHA:262740", "Partial trisomy of chromosome 6p": "ORPHA:262740", "Partial trisomy of the short arm of chromosome 6": "ORPHA:262740", "Partial duplication/triplication of the short arm of chromosome 5 syndrome": "ORPHA:262725", "Partial duplication/triplication of chromosome 5p": "ORPHA:262725", "Partial trisomy/tetrasomy of chromosome 5p": "ORPHA:262725", "Partial trisomy/tetrasomy of the short arm of chromosome 5": "ORPHA:262725", "Mayer-Rokitansky-K\u00fcster-Hauser syndrome": "ORPHA:3109", "MRKH syndrome": "ORPHA:3109", "Rokitansky syndrome": "ORPHA:3109", "Partial duplication/triplication of chromosome 9 syndrome": "ORPHA:262643", "Partial trisomy/tetrasomy of chromosome 9": "ORPHA:262643", "Partial duplication of chromosome 8 syndrome": "ORPHA:262638", "Partial trisomy of chromosome 8": "ORPHA:262638", "Autosomal dominant vitreoretinochoroidopathy": "ORPHA:3086", "ADVIRC": "ORPHA:3086", "Retinohepatoendocrinologic syndrome": "ORPHA:3087", "Partial duplication of chromosome 11 syndrome": "ORPHA:262653", "Partial trisomy of chromosome 11": "ORPHA:262653", "Revesz syndrome": "ORPHA:3088", "Dyskeratosis congenita with bilateral exudative retinopathy": "ORPHA:3088", "Retinopathy-anemia-central nervous system anomalies syndrome": "ORPHA:3088", "Revesz-DeBuse syndrome": "ORPHA:3088", "Partial duplication of chromosome 10 syndrome": "ORPHA:262648", "Partial trisomy of chromosome 10": "ORPHA:262648", "Congenital pulmonary venous return anomaly": "ORPHA:3090", "Congenital pulmonary venous connection anomaly": "ORPHA:3090", "Partial duplication/triplication of the short arm of chromosome 12 syndrome": "ORPHA:262658", "Partial duplication/triplication of chromosome 12p": "ORPHA:262658", "Partial trisomy/tetrasomy of chromosome 12p": "ORPHA:262658", "Partial trisomy/tetrasomy of the short arm of chromosome 12": "ORPHA:262658", "Meacham syndrome": "ORPHA:3097", "Meacham-Winn-Culler syndrome": "ORPHA:3097", "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome": "ORPHA:3097", "Rhizomelic syndrome, Urbach type": "ORPHA:3098", "Partial duplication of chromosome 17 syndrome": "ORPHA:262677", "Partial trisomy of chromosome 17": "ORPHA:262677", "Partial duplication of chromosome 16 syndrome": "ORPHA:262672", "Partial trisomy of chromosome 16": "ORPHA:262672", "Partial deletion of the long arm of chromosome 22 syndrome": "ORPHA:262182", "Partial deletion of chromosome 22q": "ORPHA:262182", "Partial monosomy of chromosome 22q": "ORPHA:262182", "Partial monosomy of the long arm of chromosome 22": "ORPHA:262182", "Partial duplication of chromosome 1 syndrome": "ORPHA:262191", "Partial trisomy of chromosome 1": "ORPHA:262191", "Partial duplication of chromosome 2 syndrome": "ORPHA:262196", "Partial trisomy of chromosome 2": "ORPHA:262196", "Partial duplication of chromosome 3 syndrome": "ORPHA:262201", "Partial trisomy of chromosome 3": "ORPHA:262201", "Severe X-linked intellectual disability, Gustavson type": "ORPHA:3078", "Partial duplication of chromosome 4 syndrome": "ORPHA:262206", "Partial trisomy of chromosome 4": "ORPHA:262206", "X-linked intellectual disability-psychosis-macroorchidism syndrome": "ORPHA:3077", "Lindsay-Burn syndrome": "ORPHA:3077", "PPM-X": "ORPHA:3077", "Partial duplication/triplication of chromosome 5 syndrome": "ORPHA:262211", "Partial trisomy/tetrasomy of chromosome 5": "ORPHA:262211", "Partial duplication of chromosome 6 syndrome": "ORPHA:262628", "Partial trisomy of chromosome 6": "ORPHA:262628", "Intellectual disability, Wolff type": "ORPHA:3080", "Wolff-Zimmermann syndrome": "ORPHA:3080", "Partial duplication of chromosome 7 syndrome": "ORPHA:262633", "Partial trisomy of chromosome 7": "ORPHA:262633", "Intellectual disability, Buenos-Aires type": "ORPHA:3079", "Mutchinick syndrome": "ORPHA:3079", "Partial deletion of the long arm of chromosome 14 syndrome": "ORPHA:262110", "Partial deletion of chromosome 14q": "ORPHA:262110", "Partial monosomy of chromosome 14q": "ORPHA:262110", "Partial monosomy of the long arm of chromosome 14": "ORPHA:262110", "OBSOLETE: X-linked intellectual disability, Wittner type": "ORPHA:3064", "X-linked intellectual disability, Snyder type": "ORPHA:3063", "Snyder-Robinson syndrome": "ORPHA:3063", "Partial deletion of the long arm of chromosome 15 syndrome": "ORPHA:262119", "Partial deletion of chromosome 15q": "ORPHA:262119", "Partial monosomy of chromosome 15q": "ORPHA:262119", "Partial monosomy of the long arm of chromosome 15": "ORPHA:262119", "Partial deletion of the long arm of chromosome 16 syndrome": "ORPHA:262128", "Partial deletion of chromosome 16q": "ORPHA:262128", "Partial monosomy of chromosome 16q": "ORPHA:262128", "Partial monosomy of the long arm of chromosome 16": "ORPHA:262128", "X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome": "ORPHA:3065", "Partial deletion of the long arm of chromosome 17 syndrome": "ORPHA:262137", "Partial deletion of chromosome 17q": "ORPHA:262137", "Partial monosomy of chromosome 17q": "ORPHA:262137", "Partial monosomy of the long arm of chromosome 17": "ORPHA:262137", "Partial deletion of the long arm of chromosome 18 syndrome": "ORPHA:262146", "Partial deletion of chromosome 18q": "ORPHA:262146", "Partial monosomy of chromosome 18q": "ORPHA:262146", "Partial monosomy of the long arm of chromosome 18": "ORPHA:262146", "Intellectual disability-myopathy-short stature-endocrine defect syndrome": "ORPHA:3068", "Chudley-Rozdilsky syndrome": "ORPHA:3068", "Partial deletion of the long arm of chromosome 19 syndrome": "ORPHA:262155", "Partial deletion of chromosome 19q": "ORPHA:262155", "Partial monosomy of chromosome 19q": "ORPHA:262155", "Partial monosomy of the long arm of chromosome 19": "ORPHA:262155", "OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome": "ORPHA:3067", "Partial deletion of the long arm of chromosome 20 syndrome": "ORPHA:262164", "Partial deletion of chromosome 20q": "ORPHA:262164", "Partial monosomy of chromosome 20q": "ORPHA:262164", "Partial monosomy of the long arm of chromosome 20": "ORPHA:262164", "Partial deletion of the long arm of chromosome 21 syndrome": "ORPHA:262173", "Partial deletion of chromosome 21q": "ORPHA:262173", "Partial monosomy of chromosome 21q": "ORPHA:262173", "Partial monosomy of the long arm of chromosome 21": "ORPHA:262173", "Malformation of the neurenteric canal, spinal cord and column": "ORPHA:268843", "TARP syndrome": "ORPHA:2886", "Pierre Robin sequence-congenital heart defect-talipes syndrome": "ORPHA:2886", "Pierre Robin syndrome-congenital heart defect-talipes syndrome": "ORPHA:2886", "Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome": "ORPHA:2886", "Primary tethered cord syndrome": "ORPHA:268861", "Primary tethered spinal cord syndrome": "ORPHA:268861", "Piebald trait-neurologic defects syndrome": "ORPHA:2885", "Telfer-Sugar-Jaeger syndrome": "ORPHA:2885", "OBSOLETE: Leptomyelolipoma": "ORPHA:268838", "Piebaldism": "ORPHA:2884", "Cutaneous photosensitivity-lethal colitis syndrome": "ORPHA:2881", "OBSOLETE: Lipoma associated with neurospinal dysraphism": "ORPHA:268832", "Phocomelia, Schinzel type": "ORPHA:2879", "Al Awadi-Raas-Rothschild syndrome": "ORPHA:2879", "Aplasia/hypoplasia of limbs and pelvis": "ORPHA:2879", "Congenital absence of ulna and fibula": "ORPHA:2879", "Severe limb deficit": "ORPHA:2879", "Lipomyelomeningocele": "ORPHA:268835", "OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome": "ORPHA:2878", "OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome": "ORPHA:2878", "OBSOLETE: Stoll-L\u00e9vy-Francfort syndrome": "ORPHA:2878", "Parietal encephalocele": "ORPHA:268826", "Basal encephalocele": "ORPHA:268829", "Pinsky-Di George-Harley syndrome": "ORPHA:2895", "Microphthalmia-intellectual disability syndrome": "ORPHA:2895", "OBSOLETE: Pilotto syndrome": "ORPHA:2894", "Isolated megalencephaly": "ORPHA:268920", "Isolated macrencephaly": "ORPHA:268920", "Arnold-Chiari malformation type I": "ORPHA:268882", "Arnold-Chiari malformation type 1": "ORPHA:268882", "Chiari malformation type 1": "ORPHA:268882", "Chiari malformation type I": "ORPHA:268882", "Pilodental dysplasia-refractive errors syndrome": "ORPHA:2892", "Euhidrotic ectodermal dysplasia": "ORPHA:2892", "Kopysc-Barczyk-Krol syndrome": "ORPHA:2892", "Pili torti-developmental delay-neurological abnormalities syndrome": "ORPHA:2891", "OBSOLETE: Primary syringomyelia/hydromyelia": "ORPHA:268871", "Pili torti": "ORPHA:2889", "Twisted hair": "ORPHA:2889", "OBSOLETE: Congenital hydromyelia": "ORPHA:268874", "Pili torti-onychodysplasia syndrome": "ORPHA:2890", "Neurenteric cyst": "ORPHA:268865", "Pierre Robin syndrome-faciodigital anomaly syndrome": "ORPHA:2888", "Chitayat-Meunier-Hodgkinson syndrome": "ORPHA:2888", "Pierre Robin sequence-faciodigital anomaly syndrome": "ORPHA:2888", "Isolated amyelia": "ORPHA:268868", "OBSOLETE: Upper thoracic spina bifida cystica": "ORPHA:268770", "Short stature-webbed neck-heart disease syndrome": "ORPHA:2865", "Al Gazali-Aziz-Salem syndrome": "ORPHA:2865", "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome": "ORPHA:2866", "Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome": "ORPHA:2866", "Thong-Douglas-Ferrante syndrome": "ORPHA:2866", "OBSOLETE: Cervicothoracic spina bifida cystica": "ORPHA:268766", "Short stature-wormian bones-dextrocardia syndrome": "ORPHA:2863", "Stratton-Parker syndrome": "ORPHA:2863", "OBSOLETE: Cervical spina bifida cystica": "ORPHA:268762", "OBSOLETE: Short stature-prognathism-short femoral necks syndrome": "ORPHA:2864", "OBSOLETE: Lumbosacral spina bifida cystica": "ORPHA:268758", "OBSOLETE: Thoracolumbosacral spina bifida cystica": "ORPHA:268752", "OBSOLETE: Short stature-microcephaly-heart defect syndrome": "ORPHA:2861", "OBSOLETE: D'Ercole syndrome": "ORPHA:2861", "OBSOLETE: Total spina bifida cystica": "ORPHA:268748", "Spinal dysraphism with a posterior meningocele": "ORPHA:268744", "Spina bifida cystica": "ORPHA:268744", "OBSOLETE: Upper thoracic spina bifida aperta": "ORPHA:268740", "OBSOLETE: Preeyasombat-Varavithya syndrome": "ORPHA:2860", "OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome": "ORPHA:2860", "Phakomatosis pigmentovascularis": "ORPHA:2875", "Occipital encephalocele": "ORPHA:268823", "PHAVER syndrome": "ORPHA:2876", "Powell-Chandra-Saal syndrome": "ORPHA:2876", "Cranial meningocele": "ORPHA:268820", "Cephalocele": "ORPHA:268817", "Phakomatosis pigmentokeratotica": "ORPHA:2874", "Myelocystocele": "ORPHA:268813", "Isolated posterior meningocele": "ORPHA:268810", "Pfeiffer-Palm-Teller syndrome": "ORPHA:2871", "Cardiocranial syndrome, Pfeiffer type": "ORPHA:2872", "Craniosynostosis-congenital heart disease-intellectual disability syndrome": "ORPHA:2872", "Pfeiffer-Singer-Zschiesche syndrome": "ORPHA:2872", "Short stature, Brussels type": "ORPHA:2867", "Mievis-Verellen-Dumoulin syndrome": "ORPHA:2867", "Short stature-valvular heart disease-characteristic facies syndrome": "ORPHA:2868", "Congenital pericardium anomaly": "ORPHA:2846", "Penoscrotal transposition": "ORPHA:2842", "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome": "ORPHA:2848", "Arthropathy-camptodactyly syndrome": "ORPHA:2848", "CACP syndrome": "ORPHA:2848", "Pericarditis-arthropathy-camptodactyly syndrome": "ORPHA:2848", "Pericardial and diaphragmatic defect": "ORPHA:2847", "Neural tube closure defect": "ORPHA:268357", "Renal caliceal diverticuli-deafness syndrome": "ORPHA:2838", "Renal caliceal diverticuli-hearing loss syndrome": "ORPHA:2838", "Hereditary thrombocytopenia with normal platelets": "ORPHA:268322", "Pellagra-like skin rash-neurological manifestations syndrome": "ORPHA:2837", "Pelvic dysplasia-arthrogryposis of lower limbs syndrome": "ORPHA:2840", "Ray-Peterson-Scott syndrome": "ORPHA:2840", "Pelvis-shoulder dysplasia": "ORPHA:2839", "Kosenow syndrome": "ORPHA:2839", "Scapuloiliac dysostosis": "ORPHA:2839", "Autosomal recessive intermediate Charcot-Marie-Tooth disease": "ORPHA:268337", "RI-CMT": "ORPHA:268337", "OBSOLETE: Thoracolumbosacral spina bifida aperta": "ORPHA:268384", "Perrault syndrome": "ORPHA:2855", "XX gonadal dysgenesis-deafness syndrome": "ORPHA:2855", "XX gonadal dysgenesis-hearing loss syndrome": "ORPHA:2855", "Fuhrmann syndrome": "ORPHA:2854", "Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome": "ORPHA:2854", "Fuhrmann-Rieger-de Sousa syndrome": "ORPHA:2854", "OBSOLETE: Lumbosacral spina bifida aperta": "ORPHA:268388", "OBSOLETE: Cervical spina bifida aperta": "ORPHA:268392", "Peters anomaly": "ORPHA:708", "Peters congenital glaucoma": "ORPHA:708", "OBSOLETE: Cervicothoracic spina bifida aperta": "ORPHA:268397", "Open iniencephaly": "ORPHA:268363", "Closed iniencephaly": "ORPHA:268366", "Alopecia-intellectual disability syndrome": "ORPHA:2850", "Perniola-Krajewska-Carnevale syndrome": "ORPHA:2850", "Serpentine fibula-polycystic kidneys syndrome": "ORPHA:2853", "Exner syndrome": "ORPHA:2853", "Open spinal dysraphism": "ORPHA:268369", "Open spina bifida": "ORPHA:268369", "Spina bifida aperta": "ORPHA:268369", "OBSOLETE: Total spina bifida aperta": "ORPHA:268377", "RAS-associated autoimmune leukoproliferative disease": "ORPHA:268114", "RALD": "ORPHA:268114", "PARC syndrome": "ORPHA:2825", "Poikiloderma-alopecia-retrognathism-cleft palate syndrome": "ORPHA:2825", "Spastic paraplegia-precocious puberty syndrome": "ORPHA:2826", "Intraocular medulloepithelioma": "ORPHA:268139", "Orbital medulloepithelioma": "ORPHA:268139", "Spheroid body myopathy": "ORPHA:268129", "Partington-Anderson syndrome": "ORPHA:2829", "Spastic paraplegia-facial-cutaneous lesions syndrome": "ORPHA:2819", "Bahemuka-Brown syndrome": "ORPHA:2819", "Spastic paraplegia-nephritis-deafness syndrome": "ORPHA:2820", "Fitzsimmons-Walson-Mellor syndrome": "ORPHA:2820", "Spastic paraplegia-nephritis-hearing loss syndrome": "ORPHA:2820", "Spastic paraplegia-neuropathy-poikiloderma syndrome": "ORPHA:2821", "Antinolo-Nieto-Borrego syndrome": "ORPHA:2821", "Autosomal recessive spastic paraplegia type 11": "ORPHA:2822", "Nakamura-Osame syndrome": "ORPHA:2822", "SPG11": "ORPHA:2822", "Spastic paraplegia-intellectual disability-thin corpus callosum syndrome": "ORPHA:2822", "Pectus excavatum-macrocephaly-dysplastic nails syndrome": "ORPHA:2835", "Zori-Stalker-Williams syndrome": "ORPHA:2835", "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion": "ORPHA:268261", "21q22.13q22.2 microdeletion syndrome": "ORPHA:268261", "Del(21)(q22.13q22.2)": "ORPHA:268261", "Monosomy 21q22.13q22.2": "ORPHA:268261", "PEHO syndrome": "ORPHA:2836", "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy": "ORPHA:2836", "Mycophenolate mofetil embryopathy": "ORPHA:268249", "MMF embryopathy": "ORPHA:268249", "Complication in hemodialysis": "ORPHA:268316", "Intermediate maple syrup urine disease": "ORPHA:268162", "Intermediate BCKD deficiency": "ORPHA:268162", "Intermediate MSUD": "ORPHA:268162", "Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency": "ORPHA:268162", "Short tarsus-absence of lower eyelashes syndrome": "ORPHA:2832", "Lopes-Gorlin syndrome": "ORPHA:2832", "Classic maple syrup urine disease": "ORPHA:268145", "Classic BCKD deficiency": "ORPHA:268145", "Classic MSUD": "ORPHA:268145", "Classic branched-chain alpha-ketoacid dehydrogenase deficiency": "ORPHA:268145", "Classic branched-chain ketoaciduria": "ORPHA:268145", "Thiamine-responsive maple syrup urine disease": "ORPHA:268184", "Thiamine-responsive BCKD deficiency": "ORPHA:268184", "Thiamine-responsive MSUD": "ORPHA:268184", "Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency": "ORPHA:268184", "Stiff skin syndrome": "ORPHA:2833", "Wrinkly skin syndrome": "ORPHA:2834", "WSS": "ORPHA:2834", "Wrinkled skin syndrome": "ORPHA:2834", "Intermittent maple syrup urine disease": "ORPHA:268173", "Intermittent BCKD deficiency": "ORPHA:268173", "Intermittent MSUD": "ORPHA:268173", "Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency": "ORPHA:268173", "Proteus-like syndrome": "ORPHA:2969", "Autosomal dominant prognathism": "ORPHA:2964", "De Barsy syndrome": "ORPHA:2962", "Cutis laxa-corneal clouding-intellectual disability syndrome": "ORPHA:2962", "Progeroid syndrome, De Barsy type": "ORPHA:2962", "46,XX difference of sex development-anorectal anomalies syndrome": "ORPHA:2973", "46,XX disorder of sex development-anorectal anomalies syndrome": "ORPHA:2973", "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome": "ORPHA:2972", "Stoelinga-de Koomen-Davis syndrome": "ORPHA:2972", "Pseudoachondroplasia": "ORPHA:750", "Pseudoachondroplastic dysplasia": "ORPHA:750", "Pseudoachondroplastic spondyloepiphyseal dysplasia": "ORPHA:750", "Pseudoleprechaunism syndrome, Patterson type": "ORPHA:2976", "Patterson pseudoleprechaunism syndrome": "ORPHA:2976", "Patterson syndrome": "ORPHA:2976", "46,XX difference of sex development-skeletal anomalies syndrome": "ORPHA:2975", "46,XX disorder of sex development-skeletal anomalies syndrome": "ORPHA:2975", "Acrootoocular syndrome": "ORPHA:2980", "Pseudopapilledema-blepharophimosis-hand anomalies syndrome": "ORPHA:2980", "Chronic intestinal pseudoobstruction": "ORPHA:2978", "CIPO": "ORPHA:2978", "Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis": "ORPHA:264973", "Secondary ILD in childhood and adulthood associated with a systemic vasculitis": "ORPHA:264973", "Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease": "ORPHA:264968", "Secondary ILD in childhood and adulthood associated with a metabolic disease": "ORPHA:264968", "Brachydactyly-long thumb syndrome": "ORPHA:2946", "Brachydactyly, long thumb type": "ORPHA:2946", "Renal agenesis, bilateral": "ORPHA:1848", "OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood": "ORPHA:264955", "OBSOLETE: Histiocytosis X in childhood and adulthood": "ORPHA:264955", "OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood": "ORPHA:264955", "Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease": "ORPHA:264949", "Secondary ILD in childhood and adulthood associated with a systemic disease": "ORPHA:264949", "Triphalangeal thumb-polysyndactyly syndrome": "ORPHA:2950", "TPT-PS syndrome": "ORPHA:2950", "Absent thumb-short stature-immunodeficiency syndrome": "ORPHA:2951", "Genetic interstitial lung disease": "ORPHA:264992", "Genetic ILD": "ORPHA:264992", "Triphalangeal thumbs-brachyectrodactyly syndrome": "ORPHA:2947", "Carnevale-Hern\u00e1ndez-del Castillo-Torres syndrome": "ORPHA:2947", "Exposure-related interstitial lung disease": "ORPHA:264984", "Drug or radiation exposure-related interstitial lung disease": "ORPHA:264978", "Acrodysplasia scoliosis": "ORPHA:2956", "Brachydactyly-scoliosis-carpal fusion syndrome": "ORPHA:2956", "Prata-Liberal-Goncalves syndrome": "ORPHA:2956", "Adducted thumbs-arthrogryposis syndrome, Christian type": "ORPHA:2952", "Hutchinson-Gilford progeria syndrome": "ORPHA:740", "HGPS": "ORPHA:740", "Progeria": "ORPHA:740", "Progeria-short stature-pigmented nevi syndrome": "ORPHA:2959", "Mulvihill-Smith syndrome": "ORPHA:2959", "Guttmacher syndrome": "ORPHA:2957", "Preaxial deficiency-postaxial polydactyly-hypospadias syndrome": "ORPHA:2957", "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome": "ORPHA:2958", "Prieto-Badia-Mulas syndrome": "ORPHA:2958", "Isolated polycystic liver disease": "ORPHA:2924", "ADPCLD": "ORPHA:2924", "Autosomal dominant polycystic liver disease": "ORPHA:2924", "PCLD": "ORPHA:2924", "Interstitial lung disease specific to infancy": "ORPHA:264694", "ILD specific to infancy": "ORPHA:264694", "Secondary interstitial lung disease specific to childhood associated with a systemic disease": "ORPHA:264699", "Secondary ILD specific to childhood associated with a systemic disease": "ORPHA:264699", "Secondary interstitial lung disease specific to childhood associated with a connective tissue disease": "ORPHA:264704", "Secondary ILD specific to childhood associated with a connective tissue disease": "ORPHA:264704", "Digital extensor muscle aplasia-polyneuropathy": "ORPHA:2926", "Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy": "ORPHA:2926", "Hamanishi-Ueba-Tsuji syndrome": "ORPHA:2926", "Polyneuropathy-hand defect syndrome": "ORPHA:2926", "Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis": "ORPHA:264709", "Secondary ILD specific to childhood associated with a systemic vasculitis": "ORPHA:264709", "OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome": "ORPHA:2925", "Secondary interstitial lung disease specific to childhood associated with a granulomatous disease": "ORPHA:264714", "Secondary ILD specific to childhood associated with a granulomatous disease": "ORPHA:264714", "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome": "ORPHA:2928", "Lundberg syndrome": "ORPHA:2928", "Secondary interstitial lung disease specific to childhood associated with a metabolic disease": "ORPHA:264719", "Secondary ILD specific to childhood associated with a metabolic disease": "ORPHA:264719", "OBSOLETE: Langerhans cell histiocytosis specific to childhood": "ORPHA:264724", "OBSOLETE: Histiocytosis X specific to childhood": "ORPHA:264724", "OBSOLETE: Langerhans cell granulomatosis specific to childhood": "ORPHA:264724", "Cronkhite-Canada syndrome": "ORPHA:2930", "Gastrointestinal polyposis-ectodermal changes syndrome": "ORPHA:2930", "Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome": "ORPHA:2930", "Interstitial lung disease specific to adulthood": "ORPHA:264735", "ILD specific to adulthood": "ORPHA:264735", "Primary interstitial lung disease specific to adulthood": "ORPHA:264740", "Primary ILD specific to adulthood": "ORPHA:264740", "Crossed polysyndactyly": "ORPHA:2935", "Secondary interstitial lung disease specific to adulthood associated with a systemic disease": "ORPHA:264745", "Secondary ILD specific to adulthood associated with a systemic disease": "ORPHA:264745", "Polysyndactyly-cardiac malformation syndrome": "ORPHA:2934", "Bonneau syndrome": "ORPHA:2934", "OBSOLETE: Langerhans cell histiocytosis specific to adulthood": "ORPHA:264750", "OBSOLETE: Histiocytosis X specific to adulthood": "ORPHA:264750", "OBSOLETE: Langerhans cell granulomatosis specific to adulthood": "ORPHA:264750", "Interstitial lung disease in childhood and adulthood": "ORPHA:264757", "ILD in childhood and adulthood": "ORPHA:264757", "Primary interstitial lung disease in childhood and adulthood": "ORPHA:264762", "Primary ILD in childhood and adulthood": "ORPHA:264762", "Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder": "ORPHA:264930", "Primary ILD in childhood and adulthood due to alveolar structure disorder": "ORPHA:264930", "Porencephaly-cerebellar hypoplasia-internal malformations syndrome": "ORPHA:2941", "Bonnemann-Meinecke syndrome": "ORPHA:2941", "Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder": "ORPHA:264935", "Primary ILD in childhood and adulthood due to alveolar vascular disorder": "ORPHA:264935", "Secondary interstitial lung disease in childhood and adulthood": "ORPHA:264944", "Secondary ILD in childhood and adulthood": "ORPHA:264944", "Porencephaly": "ORPHA:2940", "Pitt-Hopkins syndrome": "ORPHA:2896", "Brachyolmia-amelogenesis imperfecta syndrome": "ORPHA:2899", "Platyspondyly-amelogenesis imperfecta syndrome": "ORPHA:2899", "Verloes-Bourguignon syndrome": "ORPHA:2899", "Leri pleonosteosis": "ORPHA:2900", "Partial duplication of the short arm of chromosome 1 syndrome": "ORPHA:264431", "Partial duplication of chromosome 1p": "ORPHA:264431", "Partial trisomy of chromosome 1p": "ORPHA:264431", "POEMS syndrome": "ORPHA:2905", "Crow-Fukase syndrome": "ORPHA:2905", "Osteosclerotic myeloma": "ORPHA:2905", "PEP syndrome": "ORPHA:2905", "Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome": "ORPHA:2905", "Takatsuki syndrome": "ORPHA:2905", "Trisomy 8p syndrome": "ORPHA:264450", "Duplication 8p": "ORPHA:264450", "Hereditary acrokeratotic poikiloderma": "ORPHA:2907", "Weary syndrome": "ORPHA:2907", "Poland syndrome": "ORPHA:2911", "Poland anomaly": "ORPHA:2911", "Poland sequence": "ORPHA:2911", "Glycogen storage disease due to liver phosphorylase kinase deficiency": "ORPHA:264580", "GSD due to liver phosphorylase kinase deficiency": "ORPHA:264580", "GSD type 9A": "ORPHA:264580", "GSD type 9C": "ORPHA:264580", "GSD type IXa": "ORPHA:264580", "GSD type IXc": "ORPHA:264580", "Glycogen storage disease type 9A": "ORPHA:264580", "Glycogen storage disease type 9C": "ORPHA:264580", "Glycogen storage disease type IXa": "ORPHA:264580", "Glycogen storage disease type IXc": "ORPHA:264580", "Glycogenosis due to liver phosphorylase kinase deficiency": "ORPHA:264580", "Glycogenosis type 9A": "ORPHA:264580", "Glycogenosis type 9C": "ORPHA:264580", "Glycogenosis type IXa": "ORPHA:264580", "Glycogenosis type IXc": "ORPHA:264580", "XLG": "ORPHA:264580", "Interstitial lung disease specific to childhood": "ORPHA:264656", "ILD specific to childhood": "ORPHA:264656", "Postaxial polydactyly-dental and vertebral anomalies syndrome": "ORPHA:2916", "Primary interstitial lung disease specific to childhood due to alveolar structure disorder": "ORPHA:264670", "Primary ILD specific to childhood due to alveolar structure disorder": "ORPHA:264670", "Polydactyly-myopia syndrome": "ORPHA:2917", "Czeizel-Brooser syndrome": "ORPHA:2917", "Primary interstitial lung disease specific to childhood": "ORPHA:264665", "Primary ILD specific to childhood": "ORPHA:264665", "Primary interstitial lung disease specific to childhood due to alveolar vascular disorder": "ORPHA:264683", "Primary ILD specific to childhood due to alveolar vascular disorder": "ORPHA:264683", "Orofaciodigital syndrome type 5": "ORPHA:2919", "OFD5": "ORPHA:2919", "Oral-facial-digital syndrome type 5": "ORPHA:2919", "Orofaciodigital syndrome, Thurston type": "ORPHA:2919", "Polydactyly postaxial with median cleft of upper lip": "ORPHA:2919", "Thurston syndrome": "ORPHA:2919", "Hereditary pulmonary alveolar proteinosis": "ORPHA:264675", "Congenital PAP": "ORPHA:264675", "Congenital pulmonary alveolar proteinosis": "ORPHA:264675", "Oliver syndrome": "ORPHA:2920", "Postaxial polydactyly-intellectual disability syndrome": "ORPHA:2920", "Isolated pulmonary capillaritis": "ORPHA:264691", "Preaxial polydactyly-colobomata-intellectual disability syndrome": "ORPHA:2921", "Pfeiffer-Mayer syndrome": "ORPHA:2921", "Congenital chylothorax": "ORPHA:264688", "Unilateral ocular duplication": "ORPHA:3374", "Triophthalmia": "ORPHA:3374", "Triopia": "ORPHA:3374", "Unilateral diplophthalmia": "ORPHA:3374", "Unilateral diplophthalmos": "ORPHA:3374", "Pulmonary arterial hypertension associated with congenital heart disease": "ORPHA:275803", "PAH associated with congenital heart disease": "ORPHA:275803", "Pulmonary arterial hypertension associated with HIV infection": "ORPHA:275808", "PAH associated with HIV infaction": "ORPHA:275808", "Pulmonary arterial hypertension associated with portal hypertension": "ORPHA:275813", "PAH associated with portal hypertension": "ORPHA:275813", "POPH": "ORPHA:275813", "Portopulmonary hypertension": "ORPHA:275813", "Distal duplication 19q syndrome": "ORPHA:1717", "Distal trisomy 19q": "ORPHA:1717", "Telomeric duplication 19q": "ORPHA:1717", "Trisomy 19qter": "ORPHA:1717", "Trismus-pseudocamptodactyly syndrome": "ORPHA:3377", "Distal arthrogryposis type 7": "ORPHA:3377", "Dutch-Kentucky syndrome": "ORPHA:3377", "Hecht syndrome": "ORPHA:3377", "Hecht-Beals syndrome": "ORPHA:3377", "Pulmonary arterial hypertension associated with schistosomiasis": "ORPHA:275823", "PAH associated with schistosomiasis": "ORPHA:275823", "Trigonocephaly-bifid nose-acral anomalies syndrome": "ORPHA:3368", "Heritable pulmonary arterial hypertension": "ORPHA:275777", "FPAH": "ORPHA:275777", "Familial pulmonary arterial hypertension": "ORPHA:275777", "HPAH": "ORPHA:275777", "Hereditary pulmonary arterial hypertension": "ORPHA:275777", "Drug- or toxin-induced pulmonary arterial hypertension": "ORPHA:275786", "Drug- or toxin-induced PAH": "ORPHA:275786", "Pulmonary arterial hypertension associated with another disease": "ORPHA:275791", "PAH associated with another disease": "ORPHA:275791", "Secondary PAH": "ORPHA:275791", "Trigonocephaly-short stature-developmental delay syndrome": "ORPHA:3369", "Say-Meyer syndrome": "ORPHA:3369", "Pulmonary arterial hypertension associated with connective tissue disease": "ORPHA:275798", "PAH associated with connective tissue disease": "ORPHA:275798", "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome": "ORPHA:3363", "Long eyelashes-intellectual disability syndrome": "ORPHA:3363", "Oliver-McFarlane syndrome": "ORPHA:3363", "Beta-thalassemia and related diseases": "ORPHA:275749", "Sickle cell disease and related diseases": "ORPHA:275752", "OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome": "ORPHA:3362", "OBSOLETE: Goldstein-Hutt syndrome": "ORPHA:3362", "Lysosomal acid lipase deficiency": "ORPHA:275761", "LAL deficiency": "ORPHA:275761", "LALD": "ORPHA:275761", "Non-syndromic metopic craniosynostosis": "ORPHA:3366", "Isolated metopic craniosynostosis": "ORPHA:3366", "Isolated trigonocephaly": "ORPHA:3366", "Non-syndromic metopic suture synostosis": "ORPHA:3366", "Trigonocephaly-broad thumbs syndrome": "ORPHA:3365", "Hunter-Rudd-Hoffmann syndrome": "ORPHA:3365", "Idiopathic pulmonary arterial hypertension": "ORPHA:275766", "IPAH": "ORPHA:275766", "Primary pulmonary arterial hypertension": "ORPHA:275766", "Rare hemorrhagic disorder due to a constitutional thrombocytopenia": "ORPHA:275729", "Rare bleeding disorder due to a constitutional thrombocytopenia": "ORPHA:275729", "Rare bleeding disorder due to a quantitative platelet defect": "ORPHA:275729", "Rare coagulopathy due to a constitutional thrombocytopenia": "ORPHA:275729", "Rare coagulopathy due to a quantitative platelet defect": "ORPHA:275729", "Rare hemorrhagic disorder due to a quantitative platelet defect": "ORPHA:275729", "Rare hemorrhagic disorder due to a qualitative platelet defect": "ORPHA:275736", "Rare bleeding disorder due to a constitutional thrombopathy": "ORPHA:275736", "Rare bleeding disorder due to a qualitative platelet defect": "ORPHA:275736", "Rare coagulopathy due to a constitutional thrombopathy": "ORPHA:275736", "Rare coagulopathy due to a qualitative platelet defect": "ORPHA:275736", "Rare hemorrhagic disorder due to a constitutional thrombopathy": "ORPHA:275736", "OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly": "ORPHA:3357", "OBSOLETE: Trueb-Burg-Bottani syndrome": "ORPHA:3357", "Trichodysplasia-xeroderma syndrome": "ORPHA:3361", "Genetic infertility": "ORPHA:275742", "Alpha-thalassemia and related disorders": "ORPHA:275745", "Upington disease": "ORPHA:3408", "Hip dysplasia-enchondromata-ecchondroma syndrome": "ORPHA:3408", "Benign epithelial tumor of salivary glands": "ORPHA:276148", "Urban-Rogers-Meyer syndrome": "ORPHA:3409", "Intellectual disability-short stature-hand contractures-genital anomalies syndrome": "ORPHA:3409", "Prader-Willi habitus-osteopenia-camptodactyly syndrome": "ORPHA:3409", "Malignant epithelial tumor of salivary glands": "ORPHA:276145", "Multiple endocrine neoplasia": "ORPHA:276161", "MEN": "ORPHA:276161", "VACTERL with hydrocephalus": "ORPHA:3412", "Sujansky-Leonard syndrome": "ORPHA:3412", "Multiple endocrine neoplasia type 4": "ORPHA:276152", "MEN4": "ORPHA:276152", "Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome": "ORPHA:3391", "Ectodermal dysplasia-adrenal cyst syndrome": "ORPHA:3391", "Tuffli-Laxova syndrome": "ORPHA:3391", "Genetic frontotemporal degeneration with dementia": "ORPHA:276061", "Uhl anomaly": "ORPHA:3403", "Genetic neurodegenerative disease with dementia": "ORPHA:276058", "Ulbright-Hodes syndrome": "ORPHA:3404", "Renal dysplasia-limb defects syndrome": "ORPHA:3404", "Renal dysplasia-mesomelia-radiohumeral fusion syndrome": "ORPHA:3404", "Rare tumor of salivary glands": "ORPHA:276142", "Bile acid CoA ligase deficiency and defective amidation": "ORPHA:276066", "Frontotemporal dementia with motor neuron disease": "ORPHA:275872", "FTD-ALS": "ORPHA:275872", "FTD-MND": "ORPHA:275872", "Frontotemporal dementia with amyotrophic lateral sclerosis": "ORPHA:275872", "Humerus trochlea aplasia": "ORPHA:3383", "Common arterial trunk": "ORPHA:3384", "CAT": "ORPHA:3384", "Common aorticopulmonary trunk": "ORPHA:3384", "Truncus arteriosus": "ORPHA:3384", "Behavioral variant of frontotemporal dementia": "ORPHA:275864", "bv-FTD": "ORPHA:275864", "Hemolytic disease of the newborn with Kell alloimmunization": "ORPHA:275944", "Anti-K HDN": "ORPHA:275944", "Maternal anti-Kell alloimmunization": "ORPHA:275944", "Isolated anterior cervical hypertrichosis": "ORPHA:3387", "Hairy throat syndrome": "ORPHA:3387", "Tsukahara-Kajii syndrome": "ORPHA:3387", "Neural tube defect": "ORPHA:3388", "Hemolytic disease due to fetomaternal alloimmunization": "ORPHA:275938", "HDFN": "ORPHA:275938", "Hemolytic disease of the fetus and newborn": "ORPHA:275938", "Pulmonary hypertension owing to lung disease and/or hypoxia": "ORPHA:275837", "PH due to lung disease and/or hypoxia": "ORPHA:275837", "PH owing to lung disease and/or hypoxia": "ORPHA:275837", "Pulmonary hypertension due to lung disease and/or hypoxia": "ORPHA:275837", "Mosaic trisomy 2 syndrome": "ORPHA:1723", "Mosaic trisomy chromosome 2": "ORPHA:1723", "Trisomy 2 mosaicism": "ORPHA:1723", "Pulmonary arterial hypertension associated with chronic hemolytic anemia": "ORPHA:275828", "PAH associated with chronic hemolytic anemia": "ORPHA:275828", "Mosaic trisomy 20 syndrome": "ORPHA:1724", "Mosaic trisomy chromosome 20": "ORPHA:1724", "Trisomy 20 mosaicism": "ORPHA:1724", "Syndrome with pulmonary hypertension as a major feature": "ORPHA:275853", "Mosaic trisomy 7 syndrome": "ORPHA:1747", "Mosaic trisomy chromosome 7": "ORPHA:1747", "Trisomy 7 mosaicism": "ORPHA:1747", "Pulmonary hypertension with unclear multifactorial mechanism": "ORPHA:275844", "PH with unclear multifactorial mechanism": "ORPHA:275844", "Genetic cardiac tumor": "ORPHA:271841", "Connective tissue dysplasia, Spellacy type": "ORPHA:3333", "Spellacy-Gibbs-Watts syndrome": "ORPHA:3333", "Genetic soft tissue tumor": "ORPHA:271832", "Genetic mesenchymal tumor": "ORPHA:271832", "Hypoplastic tibiae-postaxial polydactyly syndrome": "ORPHA:3332", "Hypoplastic tibia-polydactyly syndrome": "ORPHA:3332", "Werner mesomelic syndrome": "ORPHA:3332", "Genetic digestive tract tumor": "ORPHA:271835", "Tibial aplasia-ectrodactyly syndrome": "ORPHA:3329", "Aplasia of tibia with split-hand/split-foot deformity": "ORPHA:3329", "SHFLD syndrome": "ORPHA:3329", "SHFM associated with aplasia of long bones": "ORPHA:3329", "Split hand/foot malformation with long bone deficiency": "ORPHA:3329", "Split-hand/foot malformation associated with aplasia of long bones": "ORPHA:3329", "TH-SHFM": "ORPHA:3329", "Tibial hemimelia with split hand/foot malformation": "ORPHA:3329", "Tibial hemimelia-ectrodactyly syndrome": "ORPHA:3329", "Absent tibia-polydactyly-arachnoid cyst syndrome": "ORPHA:3328", "Holmes-Collins syndrome": "ORPHA:3328", "Thyrocerebrorenal syndrome": "ORPHA:3327", "Cutler-Bass-Romshe syndrome": "ORPHA:3327", "Thymic-renal-anal-lung dysplasia": "ORPHA:3326", "Braddock-Carey syndrome": "ORPHA:3323", "Thrombocytopenia-Robin sequence syndrome": "ORPHA:3323", "Hoyeraal-Hreidarsson syndrome": "ORPHA:3322", "Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome": "ORPHA:3322", "Thoracolaryngopelvic dysplasia": "ORPHA:3317", "Barnes syndrome": "ORPHA:3317", "Thomas syndrome": "ORPHA:3316", "Potter sequence-cleft lip/palate-cardiopathy syndrome": "ORPHA:3316", "Thiemann disease, familial form": "ORPHA:3314", "Aseptic necrosis of phalangeal epiphyses": "ORPHA:3314", "Osteochondrosis of phalangeal epiphyses": "ORPHA:3314", "OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome": "ORPHA:3313", "OBSOLETE: Thiele syndrome": "ORPHA:3313", "Trichoodontoonychial dysplasia": "ORPHA:3355", "Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region": "ORPHA:3355", "Preeclampsia": "ORPHA:275555", "L1 syndrome": "ORPHA:275543", "CRASH syndrome": "ORPHA:275543", "Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome": "ORPHA:275543", "L1CAM syndrome": "ORPHA:275543", "Trichodermodysplasia-dental alterations syndrome": "ORPHA:3353", "Pinheiro-Freire Maia-Miranda syndrome": "ORPHA:3353", "OBSOLETE: Myostatin-related muscle hypertrophy": "ORPHA:275534", "OBSOLETE: Tricho-oculo-dermo-vertebral syndrome": "ORPHA:3354", "OBSOLETE: Alves-dos Santos-Castelo syndrome": "ORPHA:3354", "OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome": "ORPHA:3354", "Dianzani autoimmune lymphoproliferative disease": "ORPHA:275523", "DALD": "ORPHA:275523", "Trichodental syndrome": "ORPHA:3351", "Kersey syndrome": "ORPHA:3351", "Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency": "ORPHA:275517", "ALPS-recurrent viral infections due to CASP8 deficiency": "ORPHA:275517", "Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency": "ORPHA:275517", "CEDS": "ORPHA:275517", "Caspase 8 deficiency syndrome": "ORPHA:275517", "Tricho-dento-osseous syndrome": "ORPHA:3352", "TDO syndrome": "ORPHA:3352", "Treft-Sanborn-Carey syndrome": "ORPHA:3349", "Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome": "ORPHA:3349", "Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome": "ORPHA:3349", "Tremor-nystagmus-duodenal ulcer syndrome": "ORPHA:3350", "Neuhauser-Daly-Magnelli syndrome": "ORPHA:3350", "Weismann-Netter syndrome": "ORPHA:3344", "Anterior bowing of legs with dwarfism": "ORPHA:3344", "Toxopachyosteose diaphysaire tibio-peroniere": "ORPHA:3344", "WNS": "ORPHA:3344", "Weismann-Netter-Stuhl syndrome": "ORPHA:3344", "Mounier-K\u00fchn syndrome": "ORPHA:3347", "Congenital tracheobronchomegaly": "ORPHA:3347", "Idiopathic tracheobronchomegaly": "ORPHA:3347", "Tracheobronchomegaly": "ORPHA:3347", "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome": "ORPHA:3341", "Rare genetic systemic or rheumatologic disease": "ORPHA:271870", "Arterial tortuosity syndrome": "ORPHA:3342", "ATS": "ORPHA:595109", "Oculoectodermal syndrome": "ORPHA:3339", "Aplasia cutis congenita-epibulbar dermoids syndrome": "ORPHA:3339", "Hereditary ATTR amyloidosis": "ORPHA:271861", "ATTRv amyloidosis": "ORPHA:271861", "Familial TTR-related amyloidosis": "ORPHA:271861", "Familial transthyretin-related amyloidosis": "ORPHA:271861", "Hereditary TTR amyloid polyneuropathy": "ORPHA:271861", "Hereditary TTR amyloidosis": "ORPHA:271861", "Hereditary transthyretin amyloid polyneuropathy": "ORPHA:271861", "hATTR": "ORPHA:271861", "OBSOLETE: Torres-Aybar syndrome": "ORPHA:3340", "Genetic cardiac anomaly": "ORPHA:271853", "Tom\u00da-Brunet-Fardeau syndrome": "ORPHA:3336", "Genetic neuroendocrine tumor": "ORPHA:271847", "Toriello-Carey syndrome": "ORPHA:3338", "Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome": "ORPHA:3338", "Genetic urogenital tumor": "ORPHA:271844", "XK aprosencephaly syndrome": "ORPHA:3469", "Garcia-Lurie syndrome": "ORPHA:3469", "XK syndrome": "ORPHA:3469", "XK-aprosencephaly": "ORPHA:3469", "Genetic syndrome with a cerebellar malformation as a major feature": "ORPHA:269567", "Genetic syndrome with a Dandy-Walker malformation as a major feature": "ORPHA:269570", "Yunis-Varon syndrome": "ORPHA:3472", "Cleidocranial dysplasia-micrognathia-absent thumbs syndrome": "ORPHA:3472", "Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature": "ORPHA:269573", "Young syndrome": "ORPHA:3471", "Azoospermia-sinopulmonary infections syndrome": "ORPHA:3471", "Sinusitis-infertility syndrome": "ORPHA:3471", "Congenital amegakaryocytic thrombocytopenia": "ORPHA:3319", "CAMT": "ORPHA:3319", "Zimmermann-Laband syndrome": "ORPHA:3473", "Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome": "ORPHA:3473", "Laband syndrome": "ORPHA:3473", "Wilson-Turner syndrome": "ORPHA:3459", "WTS": "ORPHA:3459", "X-linked intellectual disability-gynecomastia-obesity syndrome": "ORPHA:3459", "Other syndrome with a central nervous system malformation as a major feature": "ORPHA:269531", "Syndrome with a Dandy-Walker malformation as a major feature": "ORPHA:269546", "Torg-Winchester syndrome": "ORPHA:371428", "Winchester syndrome": "ORPHA:3460", "Genetic non-syndromic central nervous system malformation": "ORPHA:269550", "Woodhouse-Sakati syndrome": "ORPHA:3464", "Diabetes-hypogonadism-deafness-intellectual disability syndrome": "ORPHA:3464", "Diabetes-hypogonadism-hearing loss-intellectual disability syndrome": "ORPHA:3464", "Genetic cerebral malformation": "ORPHA:269553", "Genetic brain malformation": "ORPHA:269553", "Genetic posterior fossa malformation": "ORPHA:269557", "WT limb-blood syndrome": "ORPHA:3466", "Genetic cerebellar malformation": "ORPHA:269560", "Worster-Drought syndrome": "ORPHA:3465", "Congenital suprabulbar paresis": "ORPHA:3465", "Genetic syndrome with a central nervous system malformation as a major feature": "ORPHA:269564", "Genetic syndrome with a CNS malformation as major feature": "ORPHA:269564", "Oromandibular-limb hypogenesis syndrome": "ORPHA:2749", "Oroacral syndrome": "ORPHA:2749", "Baraitser-Winter cerebrofrontofacial syndrome": "ORPHA:2995", "Radiculomegaly of canine teeth- congenital cataract": "ORPHA:3013", "Marashi-Gorlin syndrome": "ORPHA:3013", "Arthrogryposis-ectodermal dysplasia syndrome": "ORPHA:3200", "Stoll-Alembik-Finck syndrome": "ORPHA:3200", "Symbrachydactyly of hands and feet": "ORPHA:1570", "De Smet-Fabry-Fryns syndrome": "ORPHA:1570", "Sweet syndrome": "ORPHA:3243", "Acute febrile neutrophilic dermatosis": "ORPHA:3243", "Acromelic frontonasal dysplasia": "ORPHA:1827", "AFND": "ORPHA:1827", "Acromelic frontonasal dysostosis": "ORPHA:1827", "Toriello syndrome": "ORPHA:1827", "Kozlowski-Brown-Hardwick syndrome": "ORPHA:2352", "X-linked intellectual disability-epilepsy syndrome": "ORPHA:2076", "Isolated focal cortical dysplasia type Ib": "ORPHA:268980", "FCD type Ib": "ORPHA:268980", "Isolated focal cortical dysplasia type Ic": "ORPHA:268987", "FCD type Ic": "ORPHA:268987", "Velo-facial-skeletal syndrome": "ORPHA:3424", "Vasquez-Hurst-Sotos syndrome": "ORPHA:3423", "Hypogonadism-gynecomastia-X-linked intellectual disability syndrome": "ORPHA:3423", "Isolated focal cortical dysplasia type Ia": "ORPHA:268973", "FCD type Ia": "ORPHA:268973", "Isolated focal cortical dysplasia type IIb": "ORPHA:269008", "FCD type IIb": "ORPHA:269008", "Microcephaly-brachydactyly-kyphoscoliosis syndrome": "ORPHA:3433", "Viljoen-Kallis-Voges syndrome": "ORPHA:3433", "Encephaloclastic disorder": "ORPHA:269190", "Isolated focal cortical dysplasia type II": "ORPHA:268994", "Cortical dysplasia, Taylor type": "ORPHA:268994", "FCD type II": "ORPHA:268994", "Isolated focal cortical dysplasia type 2": "ORPHA:268994", "Verloove Vanhorick-Brubakk syndrome": "ORPHA:3429", "Cleft lip-limb and heart malformations syndrome": "ORPHA:3429", "Isolated focal cortical dysplasia type IIa": "ORPHA:269001", "FCD type IIa": "ORPHA:269001", "Van den Ende-Gupta syndrome": "ORPHA:2460", "Marden-Walker-like syndrome": "ORPHA:2460", "VDEGS": "ORPHA:2460", "Bilateral polymicrogyria": "ORPHA:268940", "Unilateral polymicrogyria": "ORPHA:268943", "Hyperostosis corticalis generalisata": "ORPHA:3416", "Hyperphosphatasemia tarda": "ORPHA:3416", "Van Buchem disease": "ORPHA:3416", "NON RARE IN EUROPE: Bicuspid aortic valve": "ORPHA:1244", "Midline cerebral malformation": "ORPHA:268926", "Midline brain malformation": "ORPHA:268926", "Isolated arhinencephaly": "ORPHA:268936", "Cerebroretinal vasculopathy": "ORPHA:3421", "CRV": "ORPHA:3421", "Grand-Kaine-Fulling syndrome": "ORPHA:3421", "OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome": "ORPHA:3419", "Isolated focal cortical dysplasia type I": "ORPHA:268961", "FCD type I": "ORPHA:268961", "Unilateral focal polymicrogyria": "ORPHA:268947", "Van den Bosch syndrome": "ORPHA:3417", "Cerebral cortical dysplasia": "ORPHA:268950", "Brain cortical dysplasia": "ORPHA:268950", "Weissenbacher-Zweymuller syndrome": "ORPHA:3450", "Pierre Robin sequence-fetal chondrodysplasia syndrome": "ORPHA:3450", "Pierre Robin syndrome-fetal chondrodysplasia syndrome": "ORPHA:3450", "Pontine tegmental cap dysplasia": "ORPHA:269229", "PTCD": "ORPHA:269229", "Autoimmune polyendocrinopathy type 1": "ORPHA:3453", "APECED syndrome": "ORPHA:3453", "APS type 1": "ORPHA:3453", "APS1": "ORPHA:3453", "Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome": "ORPHA:3453", "Autoimmune polyendocrine syndrome type 1": "ORPHA:3453", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome": "ORPHA:3453", "Autoimmune polyglandular syndrome type 1": "ORPHA:3453", "HAM syndrome": "ORPHA:3453", "Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome": "ORPHA:3453", "MEDAC syndrome": "ORPHA:3453", "Multiple endocrine deficiency-Addison disease-candidiasis syndrome": "ORPHA:3453", "Global cerebellar malformation": "ORPHA:269224", "Diffuse cerebellar malformation": "ORPHA:269224", "Weaver-Williams syndrome": "ORPHA:3448", "Isolated bilateral hemispheric cerebellar hypoplasia": "ORPHA:269221", "Weill-Marchesani syndrome": "ORPHA:3449", "Spherophakia-brachymorphia syndrome": "ORPHA:3449", "Isolated unilateral hemispheric cerebellar hypoplasia": "ORPHA:269218", "Wildervanck syndrome": "ORPHA:3456", "Cervicooculoacoustic syndrome": "ORPHA:3456", "Syndrome with microcephaly as a major feature": "ORPHA:269528", "Syndrome with a cerebellar malformation as a major feature": "ORPHA:269523", "Congenital non-communicating hydrocephalus": "ORPHA:269510", "Congenital obstructive hydrocephalus": "ORPHA:269510", "Wieacker-Wolff syndrome": "ORPHA:3454", "Foot contractures-muscle atrophy-oculomotor apraxia syndrome": "ORPHA:3454", "Wiedemann-Rautenstrauch syndrome": "ORPHA:3455", "Neonatal progeroid syndrome": "ORPHA:3455", "Congenital communicating hydrocephalus": "ORPHA:269505", "Congenital non-obstructive hydrocephalus": "ORPHA:269505", "Isolated cerebellar vermis agenesis": "ORPHA:269203", "OBSOLETE: Retrocerebellar cyst": "ORPHA:269200", "Biliary tract malformation-renal failure syndrome": "ORPHA:3438", "Cholestatic jaundice-renal tubular insufficiency syndrome": "ORPHA:3438", "Lutz-Richner-Landolt syndrome": "ORPHA:3438", "Glioependymal/ependymal cyst": "ORPHA:269197", "MMEP syndrome": "ORPHA:3434", "MCOPS8": "ORPHA:3434", "Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome": "ORPHA:3434", "Syndromic microphthalmia type 8": "ORPHA:3434", "Viljoen-Smart syndrome": "ORPHA:3434", "Central nervous system cystic malformation": "ORPHA:269194", "Isolated Dandy-Walker malformation without hydrocephalus": "ORPHA:269215", "Weaver-like syndrome": "ORPHA:3446", "Isolated Dandy-Walker malformation with hydrocephalus": "ORPHA:269212", "Isolated partial cerebellar vermis agenesis": "ORPHA:269209", "Isolated total cerebellar vermis agenesis": "ORPHA:269206", "Spondyloperipheral dysplasia-short ulna syndrome": "ORPHA:1856", "Autoimmune pancreatitis type 2": "ORPHA:280315", "AIP type 2": "ORPHA:280315", "Duct-centric pancreatitis": "ORPHA:280315", "Sprengel deformity": "ORPHA:3181", "High scapula": "ORPHA:3181", "Autoimmune pancreatitis type 1": "ORPHA:280302", "AIP type 1": "ORPHA:280302", "IgG4-related pancreatitis": "ORPHA:280302", "Lymphoplasmacytic sclerosing pancreatitis": "ORPHA:280302", "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16": "ORPHA:280333", "Alpha-dystroglycan-related LGMD R16": "ORPHA:280333", "Autosomal recessive limb-girdle muscular dystrophy type 2P": "ORPHA:280333", "LGMD type 2P": "ORPHA:280333", "LGMD2P": "ORPHA:280333", "Limb-girdle muscular dystrophy type 2P": "ORPHA:280333", "Distal deletion 12p syndrome": "ORPHA:280325", "12p13.33 microdeletion syndrome": "ORPHA:280325", "Del(12)(p13.33)": "ORPHA:280325", "Distal monosomy 12p": "ORPHA:280325", "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation": "ORPHA:280293", "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation": "ORPHA:280288", "Mitochondrial HSP60 chaperonopathy": "ORPHA:280288", "Rare pediatric vasculitis": "ORPHA:280369", "Corneodermatoosseous syndrome": "ORPHA:3194", "CDO syndrome": "ORPHA:3194", "Stern-Lubinsky-Durrie syndrome": "ORPHA:3194", "Sternal malformation-vascular dysplasia syndrome": "ORPHA:3195", "Autosomal semi-dominant severe lipodystrophic laminopathy": "ORPHA:280365", "Erythropoietic uroporphyria associated with myeloid malignancy": "ORPHA:280379", "Hereditary hyperekplexia": "ORPHA:3197", "Congenital stiff man syndrome": "ORPHA:3197", "Familial startle disease": "ORPHA:3197", "Hereditary hyperexplexia": "ORPHA:3197", "Kok disease": "ORPHA:3197", "Stiff baby syndrome": "ORPHA:3197", "Stimmler syndrome": "ORPHA:3199", "Rare pediatric systemic disease": "ORPHA:280373", "Steatocystoma multiplex-natal teeth syndrome": "ORPHA:3184", "Rare systemic or rheumatological disease of childhood": "ORPHA:280342", "Holoprosencephaly-radial heart renal anomalies syndrome": "ORPHA:3186", "Steinfeld syndrome": "ORPHA:3186", "Subaortic stenosis-short stature syndrome": "ORPHA:3191", "Onat syndrome": "ORPHA:3191", "Supravalvular aortic stenosis": "ORPHA:3193", "SVAS": "ORPHA:3193", "PLIN1-related familial partial lipodystrophy": "ORPHA:280356", "FPLD4": "ORPHA:280356", "PLIN1-related FPLD": "ORPHA:280356", "Deaf blind hypopigmentation syndrome, Yemenite type": "ORPHA:3214", "Warburg-Thomsen syndrome": "ORPHA:3214", "Yemenite deaf-blind hypopigmentation syndrome": "ORPHA:3214", "Inherited human prion disease": "ORPHA:280400", "Familial prion disease": "ORPHA:280400", "Genetic human prion disease": "ORPHA:280400", "Familial omphalocele syndrome with facial dysmorphism": "ORPHA:280403", "Deafness-opticoacoustic nerve atrophy-dementia syndrome": "ORPHA:3213", "Jensen syndrome": "ORPHA:3213", "hearing loss-opticoacoustic nerve atrophy-dementia syndrome": "ORPHA:3213", "Familial steroid-resistant nephrotic syndrome with sensorineural deafness": "ORPHA:280406", "Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss": "ORPHA:280406", "OBSOLETE: Deafness-white hair-contractures-papillomas syndrome": "ORPHA:3215", "OBSOLETE: Davenport-Donlan syndrome": "ORPHA:3215", "Summitt syndrome": "ORPHA:3210", "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome": "ORPHA:3201", "Stoll-Kieny-Dott syndrome": "ORPHA:3201", "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome": "ORPHA:280384", "IDMDC": "ORPHA:280384", "Autosomal dominant optic atrophy and congenital deafness": "ORPHA:3212", "Autosomal dominant optic atrophy and congenital hearing loss": "ORPHA:3212", "Konigsmark-Knox-Hussels syndrome": "ORPHA:3212", "Familial Alzheimer-like prion disease": "ORPHA:280397", "Nestor-Guillermo progeria syndrome": "ORPHA:280576", "NGPS": "ORPHA:280576", "Deafness-enamel hypoplasia-nail defects syndrome": "ORPHA:3220", "Hearing loss-enamel hypoplasia-nail defects syndrome": "ORPHA:3220", "Heimler syndrome": "ORPHA:3220", "Fountain syndrome": "ORPHA:3219", "Deafness-skeletal dysplasia-coarse face with full lips syndrome": "ORPHA:3219", "Deafness-skeletal dysplasia-lip granuloma syndrome": "ORPHA:3219", "Hearing loss-skeletal dysplasia-coarse face with full lips syndrome": "ORPHA:3219", "Hearing loss-skeletal dysplasia-lip granuloma syndrome": "ORPHA:3219", "Phosphoribosylpyrophosphate synthetase superactivity": "ORPHA:3222", "PRPP synthetase superactivity": "ORPHA:3222", "PRPS1 superactivity": "ORPHA:3222", "Chondrodysplasia with joint dislocations, gPAPP type": "ORPHA:280586", "gPAPP deficiency": "ORPHA:280586", "Generalized resistance to thyroid hormone": "ORPHA:3221", "Deafness-thyroid hormone resistance syndrome": "ORPHA:3221", "Hearing loss-thyroid hormone resistance syndrome": "ORPHA:3221", "Refetoff syndrome": "ORPHA:3221", "Deafness-small bowel diverticulosis-neuropathy syndrome": "ORPHA:3217", "Groll-Hirschowitz syndrome": "ORPHA:3217", "Hearing loss-small bowel diverticulosis-neuropathy syndrome": "ORPHA:3217", "Fatal infantile hypertonic myofibrillar myopathy": "ORPHA:280553", "Warsaw breakage syndrome": "ORPHA:280558", "WABS": "ORPHA:280558", "Conductive deafness-malformed external ear syndrome": "ORPHA:3216", "Conductive hearing loss-malformed external ear syndrome": "ORPHA:3216", "Mengel-Konigsmark syndrome": "ORPHA:3216", "Deafness-epiphyseal dysplasia-short stature syndrome": "ORPHA:3218", "Chitty-Hall-Baraitser syndrome": "ORPHA:3218", "Hearing loss-epiphyseal dysplasia-short stature syndrome": "ORPHA:3218", "OBSOLETE: Rapidly progressive glomerulonephritis": "ORPHA:280569", "OBSOLETE: Crescentic glomerulonephritis": "ORPHA:280569", "OBSOLETE: RPGN": "ORPHA:280569", "Calciphylaxis cutis": "ORPHA:280065", "Nijmegen breakage syndrome": "ORPHA:647", "AT V1": "ORPHA:647", "Ataxia-telangiectasia, variant 1": "ORPHA:647", "Berlin breakage syndrome": "ORPHA:647", "Immunodeficiency-microcephaly-chromosomal instability syndrome": "ORPHA:647", "Microcephaly-immunodeficiency-lymphoid malignancy syndrome": "ORPHA:647", "NBS": "ORPHA:647", "Seemanova syndrome type 2": "ORPHA:647", "Calciphylaxis": "ORPHA:280062", "Postorgasmic illness syndrome": "ORPHA:279947", "POIS": "ORPHA:279947", "NON RARE IN EUROPE: Adolescent idiopathic scoliosis": "ORPHA:3153", "Hereditary neutrophilia": "ORPHA:279943", "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency": "ORPHA:279934", "Sclerosteosis": "ORPHA:3152", "Cortical hyperostosis-syndactyly syndrome": "ORPHA:3152", "Paraneoplastic uveitis": "ORPHA:279928", "Infectious panuveitis": "ORPHA:279925", "Infectious anterior uveitis": "ORPHA:279922", "Severe combined immunodeficiency due to LCK deficiency": "ORPHA:280142", "SCID due to LCK deficiency": "ORPHA:280142", "SCID due to lymphocyte-specific protein tyrosine kinase deficiency": "ORPHA:280142", "Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency": "ORPHA:280142", "Omphalocele syndrome, Shprintzen-Goldberg type": "ORPHA:3164", "Sillence syndrome": "ORPHA:3168", "Brachydactyly-symphalangism syndrome": "ORPHA:3168", "Complement component 3 deficiency": "ORPHA:280133", "C3 deficiency": "ORPHA:280133", "SHORT syndrome": "ORPHA:3163", "Lipodystrophy-Rieger anomaly-diabetes syndrome": "ORPHA:3163", "Rieger anomaly-partial lipodystrophy syndrome": "ORPHA:3163", "NON RARE IN EUROPE: Paget disease of bone": "ORPHA:280110", "NON RARE IN EUROPE: Osteitis deformans": "ORPHA:280110", "Atrial septal defect-atrioventricular conduction defects syndrome": "ORPHA:1479", "Senior-Loken syndrome": "ORPHA:3156", "Nephronophthisis with retinal dystrophy": "ORPHA:3156", "Renal dysplasia-retinal aplasia syndrome": "ORPHA:3156", "SLSN": "ORPHA:3156", "ALG11-CDG": "ORPHA:280071", "CDG syndrome type Ip": "ORPHA:280071", "CDG-Ip": "ORPHA:280071", "CDG1P": "ORPHA:280071", "Carbohydrate deficient glycoprotein syndrome type Ip": "ORPHA:280071", "Congenital disorder of glycosylation type 1p": "ORPHA:280071", "Congenital disorder of glycosylation type Ip": "ORPHA:280071", "Visceral calciphylaxis": "ORPHA:280068", "Septo-optic dysplasia spectrum": "ORPHA:3157", "De Morsier syndrome": "ORPHA:3157", "SOD": "ORPHA:3157", "Septo-optic dysplasia": "ORPHA:3157", "Spondylocamptodactyly syndrome": "ORPHA:3180", "Pelizaeus-Merzbacher disease, connatal form": "ORPHA:280210", "Connatal PMD": "ORPHA:280210", "Pelizaeus-Merzbacher disease type II": "ORPHA:280210", "Severe PMD": "ORPHA:280210", "Pelizaeus-Merzbacher disease, classic form": "ORPHA:280219", "Classic PMD": "ORPHA:280219", "Microform holoprosencephaly": "ORPHA:280200", "HPE, minor form": "ORPHA:280200", "HPE-L": "ORPHA:280200", "Holoprosencephaly, minor form": "ORPHA:280200", "Holoprosencephaly-like": "ORPHA:280200", "Microform HPE": "ORPHA:280200", "Spinocerebellar degeneration-corneal dystrophy syndrome": "ORPHA:3177", "Der Kaloustian-Jarudi-Khoury syndrome": "ORPHA:3177", "Laryngotracheoesophageal cleft type 0": "ORPHA:280205", "LTEC0": "ORPHA:280205", "Laryngo-tracheo-esophageal cleft type 0": "ORPHA:280205", "X-linked spasticity-intellectual disability-epilepsy syndrome": "ORPHA:3175", "Septopreoptic holoprosencephaly": "ORPHA:280195", "Septopreoptic HPE": "ORPHA:280195", "Eyebrow duplication-syndactyly syndrome": "ORPHA:3172", "Methylmalonic aciduria due to transcobalamin receptor defect": "ORPHA:280183", "Methylmalonic acidemia, TCb1R type": "ORPHA:280183", "Methylmalonic acidemia, TCbIR type": "ORPHA:280183", "Pelizaeus-Merzbacher-like disease due to GJC2 mutation": "ORPHA:280282", "PMLD1": "ORPHA:280282", "Pelizaeus-Merzbacher-like disease": "ORPHA:280270", "PMLD": "ORPHA:280270", "OBSOLETE: Spondyloepimetaphyseal dysplasia": "ORPHA:252", "Null syndrome": "ORPHA:280234", "PLP1 null syndrome": "ORPHA:280234", "Pelizaeus-Merzbacher disease, null syndrome": "ORPHA:280234", "Spondyloenchondrodysplasia": "ORPHA:1855", "SPENCD": "ORPHA:1855", "Spondyloenchondromatosis": "ORPHA:1855", "Spondylometaphyseal dysplasia with enchondromatous changes": "ORPHA:1855", "Pelizaeus-Merzbacher disease, transitional form": "ORPHA:280224", "Transitional PMD": "ORPHA:280224", "Autosomal dominant spondylocostal dysostosis": "ORPHA:1797", "Autosomal dominant spondylocostal dysplasia": "ORPHA:1797", "Pelizaeus-Merzbacher disease in female carriers": "ORPHA:280229", "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency": "ORPHA:276580", "Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency": "ORPHA:276580", "Dominant KATP hyperinsulinism due to Kir6.2 deficiency": "ORPHA:276580", "Cenani-Lenz syndrome": "ORPHA:3258", "Cenani syndactyly": "ORPHA:3258", "Cenani-Lenz syndactyly": "ORPHA:3258", "Syndactyly type 7": "ORPHA:3258", "Autosomal dominant hyperinsulinism due to SUR1 deficiency": "ORPHA:276575", "Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency": "ORPHA:276575", "Dobrow syndrome": "ORPHA:3262", "Syngnathia-multiple anomalies syndrome": "ORPHA:3262", "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency": "ORPHA:276598", "Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form": "ORPHA:276598", "Diazoxide-resistant hyperinsulinism": "ORPHA:276585", "Diazoxide-resistant hyperinsulinemic hypoglycemia": "ORPHA:276585", "Non-insulinoma pancreatogenous hypoglycemia syndrome": "ORPHA:276608", "NIPHS": "ORPHA:276608", "Isolated humero-radial synostosis": "ORPHA:3265", "Isolated congenital humeroradial fusion": "ORPHA:3265", "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency": "ORPHA:276603", "Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form": "ORPHA:276603", "Isolated humero-radio-ulnar synostosis": "ORPHA:3266", "Isolated congenital humero-radioulnar fusion": "ORPHA:3266", "OBSOLETE: Sporadic pheochromocytoma": "ORPHA:276624", "OBSOLETE: Familial lambdoid synostosis": "ORPHA:3267", "Sporadic pheochromocytoma/secreting paraganglioma": "ORPHA:276621", "Radioulnar synostosis-microcephaly-scoliosis syndrome": "ORPHA:3268", "Giuffr\u00e9-Tsukahara syndrome": "ORPHA:3268", "Tsukahara syndrome": "ORPHA:3268", "Symptomatic form of Coffin-Lowry syndrome in female carriers": "ORPHA:276630", "Radioulnar synostosis-developmental delay-hypotonia syndrome": "ORPHA:3270", "Der Kaloustian-McIntosh-Silver syndrome": "ORPHA:3270", "OBSOLETE: Sporadic secreting paraganglioma": "ORPHA:276627", "Granulomatous arthritis of childhood": "ORPHA:3274", "Autoinflammatory granulomatosis of childhood": "ORPHA:3274", "Granulomatous inflammatory arthritis, dermatitis, and uveitis": "ORPHA:3274", "Granulomatous synovitis-uveitis syndrome": "ORPHA:3274", "PGA": "ORPHA:3274", "Pediatric granulomatous arthritis": "ORPHA:3274", "Spondylocarpotarsal synostosis": "ORPHA:3275", "Synspondylism": "ORPHA:3275", "OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome": "ORPHA:3284", "Apolipoprotein A-I deficiency": "ORPHA:425", "ApoA-I deficiency": "ORPHA:425", "Familial apoA-I deficiency": "ORPHA:425", "Familial hypoalphalipoproteinemia": "ORPHA:425", "NON RARE IN EUROPE: Taurodontism": "ORPHA:3289", "Teebi-Shaltout syndrome": "ORPHA:3291", "Telecanthus-hypertelorism-strabismus-pes cavus syndrome": "ORPHA:3293", "Tel Hashomer camptodactyly syndrome": "ORPHA:3292", "Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome": "ORPHA:3292", "Spasmus nutans": "ORPHA:279882", "Extensor tendons of finger anomalies": "ORPHA:3294", "Hapnes-Boman-Skeie syndrome": "ORPHA:3294", "Acute endophthalmitis": "ORPHA:279888", "Chronic endophthalmitis": "ORPHA:279891", "Toxic maculopathy due to antimalarial drugs": "ORPHA:279894", "Tetraamelia-multiple malformations syndrome": "ORPHA:3301", "PAPPA syndrome": "ORPHA:3301", "PAPPAS": "ORPHA:3301", "Zimmer phocomelia": "ORPHA:3301", "Primary oculocerebral lymphoma": "ORPHA:279897", "Primary oculocerebral non-Hodgkin lymphoma": "ORPHA:279897", "Primary intraocular lymphoma": "ORPHA:279904", "PIOL": "ORPHA:279904", "Primary intraocular non-Hodgkin lymphoma": "ORPHA:279904", "Primary organ-specific lymphoma": "ORPHA:279911", "Fallot complex-intellectual disability-growth delay syndrome": "ORPHA:3304", "Bindewald-Ulmer-M\u00fcller syndrome": "ORPHA:3304", "Thalidomide embryopathy": "ORPHA:3312", "Fetal thalidomide syndrome": "ORPHA:3312", "Intermediate uveitis": "ORPHA:279914", "IU": "ORPHA:279914", "OBSOLETE: Infantile symmetrical thalamic degeneration": "ORPHA:3311", "Infectious posterior uveitis": "ORPHA:279919", "Spinocerebellar ataxia type 36": "ORPHA:276198", "Asidan": "ORPHA:276198", "SCA36": "ORPHA:276198", "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome": "ORPHA:3225", "Tungland-Bellman syndrome": "ORPHA:3225", "Spinocerebellar ataxia type 35": "ORPHA:276193", "SCA35": "ORPHA:276193", "Deafness-lymphedema-leukemia syndrome": "ORPHA:3226", "Emberger syndrome": "ORPHA:3226", "Hearing loss-lymphedema-leukemia syndrome": "ORPHA:3226", "Spinocerebellar ataxia type 32": "ORPHA:276183", "Cerebellar ataxia with azoospermia and intellectual disability": "ORPHA:276183", "SCA32": "ORPHA:276183", "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome": "ORPHA:3224", "Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome": "ORPHA:3224", "Pfeiffer-Kapferer syndrome": "ORPHA:3224", "Idiopathic recurrent stupor": "ORPHA:276174", "Machado-Joseph disease type 1": "ORPHA:276238", "SCA3, Joseph type": "ORPHA:276238", "Spinocerebellar ataxia type 3, Joseph type": "ORPHA:276238", "OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome": "ORPHA:3229", "Non-syndromic male infertility due to sperm motility disorder": "ORPHA:276234", "Non-syndromic male infertility due asthenozoospermia": "ORPHA:276234", "Mucopolysaccharidosis type 6, slowly progressing": "ORPHA:276223", "Arylsulfatase B deficiency, slowly progressing": "ORPHA:276223", "MPS6, slowly progressing": "ORPHA:276223", "MPSVI, slowly progressing": "ORPHA:276223", "Mucopolysaccharidosis type VI, slowly progressing": "ORPHA:276223", "OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome": "ORPHA:3228", "OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome": "ORPHA:3228", "OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome": "ORPHA:3228", "Mucopolysaccharidosis type 6, rapidly progressing": "ORPHA:276212", "Arylsulfatase B deficiency, rapidly progressing": "ORPHA:276212", "MPS6, rapidly progressing": "ORPHA:276212", "MPSVI, rapidly progressing": "ORPHA:276212", "Mucopolysaccharidosis type VI, rapidly progressing": "ORPHA:276212", "OBSOLETE: Xeroderma pigmentosum complementation group B": "ORPHA:276252", "OBSOLETE: XPB": "ORPHA:276252", "Deafness-oligodontia syndrome": "ORPHA:3230", "Hearing loss-oligodontia syndrome": "ORPHA:3230", "OBSOLETE: Xeroderma pigmentosum complementation group A": "ORPHA:276249", "OBSOLETE: XPA": "ORPHA:276249", "Deafness-onychodystrophy syndrome": "ORPHA:3231", "Hearing loss-onychodystrophy syndrome": "ORPHA:3231", "Machado-Joseph disease type 3": "ORPHA:276244", "SCA3, Machado type": "ORPHA:276244", "Spinocerebellar ataxia type 3, Machado type": "ORPHA:276244", "Machado-Joseph disease type 2": "ORPHA:276241", "SCA3, Thomas type": "ORPHA:276241", "Spinocerebellar ataxia, Thomas type": "ORPHA:276241", "Progressive deafness with stapes fixation": "ORPHA:3235", "Progressive hearing loss with stapes fixation": "ORPHA:3235", "Stapedo-vestibular ankylosis": "ORPHA:3235", "Thies-Reis syndrome": "ORPHA:3235", "OBSOLETE: Xeroderma pigmentosum complementation group F": "ORPHA:276264", "OBSOLETE: XPF": "ORPHA:276264", "OBSOLETE: Xeroderma pigmentosum complementation group E": "ORPHA:276261", "OBSOLETE: XPE": "ORPHA:276261", "Conductive deafness-ptosis-skeletal anomalies syndrome": "ORPHA:3236", "Conductive hearing loss-ptosis-skeletal anomalies syndrome": "ORPHA:3236", "Jackson-Barr syndrome": "ORPHA:3236", "OBSOLETE: Xeroderma pigmentosum complementation group D": "ORPHA:276258", "OBSOLETE: XPD": "ORPHA:276258", "Deafness-ear malformation-facial palsy syndrome": "ORPHA:3232", "Hearing loss-ear malformation-facial palsy syndrome": "ORPHA:3232", "Sellars-Beighton syndrome": "ORPHA:3232", "OBSOLETE: Xeroderma pigmentosum complementation group C": "ORPHA:276255", "OBSOLETE: XPC": "ORPHA:276255", "Cochleosaccular degeneration-cataract syndrome": "ORPHA:3233", "Deafness-craniofacial syndrome": "ORPHA:3241", "Hearing loss-craniofacial syndrome": "ORPHA:3241", "Hemihyperplasia-multiple lipomatosis syndrome": "ORPHA:276280", "HHML": "ORPHA:276280", "Familial multinodular goiter": "ORPHA:276399", "FMNG": "ORPHA:276399", "Familial MNG": "ORPHA:276399", "Familial multinodular goiter syndrome": "ORPHA:276399", "Deafness-vitiligo-achalasia syndrome": "ORPHA:3239", "Hearing loss-vitiligo-achalasia syndrome": "ORPHA:3239", "OBSOLETE: Xeroderma pigmentosum complementation group G": "ORPHA:276267", "OBSOLETE: XPG": "ORPHA:276267", "Cardiospondylocarpofacial syndrome": "ORPHA:3238", "Forney syndrome": "ORPHA:3238", "Forney-Robinson-Pascoe syndrome": "ORPHA:3238", "Mitral regurgitation-deafness-skeletal anomalies syndrome": "ORPHA:3238", "Mitral regurgitation-hearing loss-skeletal anomalies syndrome": "ORPHA:3238", "NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia": "ORPHA:276271", "NON RARE IN EUROPE: Analbuminemia": "ORPHA:276271", "NON RARE IN EUROPE: Bisalbuminemia": "ORPHA:276271", "NON RARE IN EUROPE: FDH": "ORPHA:276271", "Multiple synostoses syndrome": "ORPHA:3237", "Deafness-Hermann type symphalangism syndrome": "ORPHA:3237", "Facio-audio-symphalangism": "ORPHA:3237", "Hearing loss-Hermann type symphalangism syndrome": "ORPHA:3237", "Symphalangism-brachydactyly syndrome": "ORPHA:3237", "WL syndrome": "ORPHA:3237", "Symphalangism with multiple anomalies of hands and feet": "ORPHA:3246", "Learman syndrome": "ORPHA:3246", "10q22.3q23.3 microdeletion syndrome": "ORPHA:276413", "Del(10)(q22.3q23.3)": "ORPHA:276413", "Deletion 10q22.3q23.3": "ORPHA:276413", "Monosomy 10q22.3q23.3": "ORPHA:276413", "OBSOLETE: Limbic encephalitis with caspr2 antibodies": "ORPHA:276402", "Renpenning syndrome": "ORPHA:3242", "X-linked intellectual disability due to PQBP1 mutations": "ORPHA:3242", "X-linked intellectual disability, Renpenning type": "ORPHA:3242", "Hyperbiliverdinemia": "ORPHA:276405", "Green jaundice": "ORPHA:276405", "Proximal symphalangism": "ORPHA:3250", "Symphalangism, Cushing type": "ORPHA:3250", "Isolated distal symphalangism": "ORPHA:3248", "10q22.3q23.3 microduplication syndrome": "ORPHA:276422", "Dup(10)(q22.3q23.3)": "ORPHA:276422", "Trisomy 10q22.3q23.3": "ORPHA:276422", "Hypnic headache": "ORPHA:276429", "Familial hyperinsulinism": "ORPHA:276525", "Familial hyperinsulinemic hypoglycemia": "ORPHA:276525", "Filippi syndrome": "ORPHA:3255", "Type 1 syndactyly-microcephaly-intellectual disability syndrome": "ORPHA:3255", "Hyperinsulinism due to UCP2 deficiency": "ORPHA:276556", "Hyperinsulinemic hypoglycemia due to UCP2 deficiency": "ORPHA:276556", "Ogden syndrome": "ORPHA:276432", "Premature aging appearance-developmental delay-cardiac arrhythmia syndrome": "ORPHA:276432", "Cleft lip/palate-ectodermal dysplasia syndrome": "ORPHA:3253", "CLPED1": "ORPHA:3253", "Cleft lip/palate-syndactyly-pili torti syndrome": "ORPHA:3253", "Syndactyly-ectodermal dysplasia-cleft/lip palate": "ORPHA:3253", "Zlotogora-Ogur syndrome": "ORPHA:3253", "Lower motor neuron syndrome with late-adult onset": "ORPHA:276435", "LOSMoN": "ORPHA:276435", "Late-onset spinal motor neuronopathy": "ORPHA:276435", "SMAJ": "ORPHA:276435", "Spinal muscular atrophy, Jokela type": "ORPHA:276435", "Combined immunodeficiency due to ZAP70 deficiency": "ORPHA:911", "Zeta-associated-protein 70 deficiency": "ORPHA:911", "Heparin-induced thrombocytopenia": "ORPHA:3325", "HAT": "ORPHA:3325", "HIT": "ORPHA:3325", "Heparin-associated thrombocytopenia": "ORPHA:3325", "Heparin-induced thrombocytopenia type 2": "ORPHA:3325", "Mitochondrial trifunctional protein deficiency": "ORPHA:746", "TFP deficiency": "ORPHA:746", "TFPD": "ORPHA:746", "Malonic aciduria": "ORPHA:943", "Deficiency of malonyl-CoA decarboxylase": "ORPHA:943", "MLYCD deficiency": "ORPHA:943", "Malonic acidemia": "ORPHA:943", "Malonyl-CoA decarboxylase deficiency": "ORPHA:943", "Hereditary methemoglobinemia": "ORPHA:621", "Autosomal recessive methemoglobinemia": "ORPHA:621", "Congenital methemoglobinemia": "ORPHA:621", "NON RARE IN EUROPE: Cluster headache": "ORPHA:1002", "NON RARE IN EUROPE: Ciliary neuralgia": "ORPHA:1002", "NON RARE IN EUROPE: Cluster migraine": "ORPHA:1002", "NON RARE IN EUROPE: Erythromelalgia of the head": "ORPHA:1002", "NON RARE IN EUROPE: Erythroprosopalgia of Bing": "ORPHA:1002", "NON RARE IN EUROPE: Histamine cephalalgia": "ORPHA:1002", "NON RARE IN EUROPE: Histamine headache": "ORPHA:1002", "NON RARE IN EUROPE: Histaminic cephalalgia": "ORPHA:1002", "NON RARE IN EUROPE: Horton headache": "ORPHA:1002", "NON RARE IN EUROPE: Migrainous neuralgia": "ORPHA:1002", "NON RARE IN EUROPE: Red migraine": "ORPHA:1002", "Glycogen storage disease due to hepatic glycogen synthase deficiency": "ORPHA:2089", "GSD due to hepatic glycogen synthase deficiency": "ORPHA:2089", "GSD type 0a": "ORPHA:2089", "Glycogen storage disease due to liver glycogen synthase deficiency": "ORPHA:2089", "Glycogen storage disease type 0a": "ORPHA:2089", "Glycogenosis type 0a": "ORPHA:2089", "Dysbetalipoproteinemia": "ORPHA:412", "Broad-beta disease": "ORPHA:412", "Familial dyslipidemia type 3": "ORPHA:412", "HLP type 3": "ORPHA:412", "Hyperlipidemia type 3": "ORPHA:412", "Hyperlipoproteinemia type 3": "ORPHA:412", "Remnant hyperlipoproteinemia": "ORPHA:412", "Severe hereditary thrombophilia due to congenital protein S deficiency": "ORPHA:743", "Autosomal recessive thrombophilia due to congenital protein S deficiency": "ORPHA:743", "Familial hyperthyroidism due to mutations in TSH receptor": "ORPHA:424", "Familial non-immune hyperthyroidism": "ORPHA:424", "Resistance to thyroid stimulating hormone": "ORPHA:424", "Congenital factor II deficiency": "ORPHA:325", "Dysprothrombinemia": "ORPHA:325", "Hypoprothrombinemia": "ORPHA:325", "Prothrombin deficiency": "ORPHA:325", "Hyperimmunoglobulinemia D with periodic fever": "ORPHA:343", "HIDS": "ORPHA:343", "Hyper-IgD syndrome": "ORPHA:343", "Hyperimmunoglobinemia D with recurrent fever": "ORPHA:343", "Hyperimmunoglobulinemia D syndrome": "ORPHA:343", "Partial mevalonate kinase deficiency": "ORPHA:343", "Immunodeficiency by defective expression of MHC class II": "ORPHA:572", "Bare lymphocyte syndrome type 2": "ORPHA:572", "MHC class II deficiency": "ORPHA:572", "Familial thrombomodulin anomalies": "ORPHA:3324", "Herpes simplex virus encephalitis": "ORPHA:1930", "HSE": "ORPHA:1930", "HSV encephalitis": "ORPHA:1930", "HSVE": "ORPHA:1930", "Herpes simplex meningo-encephalitis": "ORPHA:1930", "Herpes simplex neuroinvasion": "ORPHA:1930", "Herpetic encephalitis": "ORPHA:1930", "Systemic primary carnitine deficiency": "ORPHA:158", "CDSP": "ORPHA:158", "CUD": "ORPHA:158", "Carnitine transporter defect": "ORPHA:158", "Carnitine uptake deficiency": "ORPHA:158", "Deficiency of plasma-membrane carnitine transporter": "ORPHA:158", "SPCD": "ORPHA:158", "Syndromic microphthalmia-anophthalmia-coloboma": "ORPHA:202948", "Syndromic microphthalmia": "ORPHA:202948", "Anomaly of puberty or/and menstrual cycle of genetic origin": "ORPHA:202940", "Essential fructosuria": "ORPHA:2056", "Fructokinase deficiency": "ORPHA:2056", "Ketohexokinase deficiency": "ORPHA:2056", "Infantile Krabbe disease": "ORPHA:206436", "Krabbe disease, classic form": "ORPHA:206436", "Krabbe disease, early-onset": "ORPHA:206436", "Sneddon syndrome": "ORPHA:820", "Ehrmann-Sneddon syndrome": "ORPHA:820", "Livedo racemosa-cerebrovascular accident syndrome": "ORPHA:820", "Livedo reticularis-cerebrovascular accident syndrome": "ORPHA:820", "Hypoxanthine-guanine phosphoribosyltransferase deficiency": "ORPHA:206428", "HPRT deficiency": "ORPHA:206428", "HPRT1 deficiency": "ORPHA:206428", "Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency": "ORPHA:206428", "Self-limited epilepsy with centrotemporal spikes": "ORPHA:1945", "BECRS": "ORPHA:1945", "BECTS": "ORPHA:1945", "BRE": "ORPHA:1945", "Benign epilepsy of childhood with centrotemporal spikes": "ORPHA:1945", "Benign familial epilepsy of childhood with rolandic spikes": "ORPHA:1945", "Benign rolandic epilepsy": "ORPHA:1945", "Centrotemporal epilepsy": "ORPHA:1945", "Rolandic epilepsy": "ORPHA:1945", "SeLECTS": "ORPHA:1945", "OBSOLETE: Familial hypospadias": "ORPHA:440", "Succinyl-CoA:3-oxoacid CoA transferase deficiency": "ORPHA:832", "OXCT1 deficiency": "ORPHA:832", "SCOT deficiency": "ORPHA:832", "Succinyl-CoA acetoacetate transferase deficiency": "ORPHA:832", "Succinyl-CoA:3-ketoacid CoA transferase deficiency": "ORPHA:832", "3-methylcrotonyl-CoA carboxylase deficiency": "ORPHA:6", "3-methylcrotonylglycinuria": "ORPHA:6", "MCC deficiency": "ORPHA:6", "MCCD": "ORPHA:6", "3-hydroxy-3-methylglutaric aciduria": "ORPHA:20", "3-hydroxy-3-methylglutaryl-CoA lyase deficiency": "ORPHA:20", "HMG-CoA lyase deficiency": "ORPHA:20", "Hydroxymethylglutaric aciduria": "ORPHA:20", "Hemolytic anemia due to diphosphoglycerate mutase deficiency": "ORPHA:714", "Hemolytic anemia due to glucophosphate isomerase deficiency": "ORPHA:712", "Rhizomelic dysplasia, Patterson-Lowry type": "ORPHA:2831", "Arachnodactyly-abnormal ossification-intellectual disability syndrome": "ORPHA:1129", "Kosztolanyi syndrome": "ORPHA:1129", "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers": "ORPHA:206546", "Cataract-deafness-hypogonadism syndrome": "ORPHA:1383", "Cataract-hearing loss-hypogonadism syndrome": "ORPHA:1383", "Schaap-Taylor-Baraitser syndrome": "ORPHA:1383", "Malignant non-dysgerminomatous germ cell tumor of ovary": "ORPHA:206538", "Non-dysgerminomatous germ cell cancer of ovary": "ORPHA:206538", "Fukutin-related limb-girdle muscular dystrophy R13": "ORPHA:206554", "Autosomal recessive LGMD type 2M": "ORPHA:206554", "Autosomal recessive limb-girdle muscular dystrophy type 2M": "ORPHA:206554", "Fukutin-related LGMD R13": "ORPHA:206554", "LGMD type 2M": "ORPHA:206554", "LGMD2M": "ORPHA:206554", "OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome": "ORPHA:1849", "Craniomicromelic syndrome": "ORPHA:1524", "Anoctamin-5-related limb-girdle muscular dystrophy R12": "ORPHA:206549", "Anoctamin-5-related LGMD R12": "ORPHA:206549", "Autosomal recessive limb-girdle muscular dystrophy type 2L": "ORPHA:206549", "LGMD type 2L": "ORPHA:206549", "LGMD2L": "ORPHA:206549", "Limb-girdle muscular dystrophy type 2L": "ORPHA:206549", "Caudal appendage-deafness syndrome": "ORPHA:1123", "Caudal appendage-hearing loss syndrome": "ORPHA:1123", "Lynch-Lee-Murday syndrome": "ORPHA:1123", "POMGNT1-related limb-girdle muscular dystrophy R15": "ORPHA:206564", "Autosomal recessive limb-girdle muscular dystrophy type 2O": "ORPHA:206564", "LGMD type 2O": "ORPHA:206564", "LGMD2O": "ORPHA:206564", "Limb-girdle muscular dystrophy type 2O": "ORPHA:206564", "POMGNT1-related LGMD R15": "ORPHA:206564", "POMT2-related limb-girdle muscular dystrophy R14": "ORPHA:206559", "Autosomal recessive limb-girdle muscular dystrophy type 2N": "ORPHA:206559", "LGMD type 2N": "ORPHA:206559", "LGMD2N": "ORPHA:206559", "Limb-girdle muscular dystrophy type 2N": "ORPHA:206559", "POMT2-related LGMD R14": "ORPHA:206559", "Overlap myositis": "ORPHA:206572", "Adult-onset overlap myositis": "ORPHA:206572", "Non-specific myositis": "ORPHA:206572", "Syngnathia-cleft palate syndrome": "ORPHA:3263", "Immune-mediated necrotizing myopathy": "ORPHA:206569", "AINM": "ORPHA:206569", "Autoimmune necrotizing myositis": "ORPHA:206569", "IMNM": "ORPHA:206569", "NAM": "ORPHA:206569", "Necrotizing autoimmune myositis": "ORPHA:206569", "Autosomal recessive lower motor neuron disease with childhood onset": "ORPHA:206580", "Autosomal recessive distal spinal muscular atrophy type 4": "ORPHA:206580", "Distal spinal muscular atrophy type 4": "ORPHA:206580", "dSMA4": "ORPHA:206580", "Rippling muscle disease with myasthenia gravis": "ORPHA:206575", "Acquired rippling muscle disease": "ORPHA:206575", "Immune-mediated rippling muscle disease": "ORPHA:206575", "Late-infantile/juvenile Krabbe disease": "ORPHA:206443", "Krabbe disease, late-onset": "ORPHA:206443", "Von Voss-Cherstvoy syndrome": "ORPHA:3439", "DK phocomelia syndrome": "ORPHA:3439", "Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome": "ORPHA:3439", "Adult Krabbe disease": "ORPHA:206448", "Cystadenoma of childhood": "ORPHA:206470", "Cystadenoma of ovary in childhood": "ORPHA:206470", "Spinal atrophy-ophthalmoplegia-pyramidal syndrome": "ORPHA:1217", "Hamano-Tsukamoto syndrome": "ORPHA:1217", "OBSOLETE: Borderline epithelial tumor of ovary": "ORPHA:206473", "OBSOLETE: Borderline ovarian epithelial tumor": "ORPHA:206473", "OBSOLETE: Ovarian tumor of low malignant potential": "ORPHA:206473", "Hypomyelination neuropathy-arthrogryposis syndrome": "ORPHA:2680", "Gonadoblastoma": "ORPHA:206484", "Diprosopus": "ORPHA:1681", "Craniofacial duplication": "ORPHA:1681", "Diprosopia": "ORPHA:1681", "Malignant germ cell tumor of the vagina": "ORPHA:206489", "Vaginal germ cell cancer": "ORPHA:206489", "Vaginal germ cell malignant tumor": "ORPHA:206489", "Vulvovaginal rhabdomyosarcoma": "ORPHA:206492", "OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type": "ORPHA:1534", "OBSOLETE: Imaizumi-Kuroki syndrome": "ORPHA:1534", "M\u00fcllerian derivatives-lymphangiectasia-polydactyly syndrome": "ORPHA:1655", "Urioste syndrome": "ORPHA:1655", "Bulbospinal muscular atrophy": "ORPHA:206701", "Laron syndrome": "ORPHA:633", "Complete growth hormone insensitivity": "ORPHA:633", "GH receptor deficiency": "ORPHA:633", "Growth hormone receptor deficiency": "ORPHA:633", "Laron-type dwarfism": "ORPHA:633", "Primary GH insensitivity": "ORPHA:633", "Primary GH resistance": "ORPHA:633", "Primary growth hormone insensitivity": "ORPHA:633", "Primary growth hormone resistance": "ORPHA:633", "Short stature due to growth hormone resistance": "ORPHA:633", "OBSOLETE: Otopalatodigital syndrome": "ORPHA:669", "Inclusion myopathy": "ORPHA:206662", "OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly": "ORPHA:206659", "Kallmann syndrome": "ORPHA:478", "Congenital hypogonadotropic hypogonadism with anosmia": "ORPHA:478", "Olfacto-genital pathological sequence": "ORPHA:478", "OBSOLETE: Distal spinal muscular atrophy": "ORPHA:206713", "Generalized bulbospinal muscular atrophy": "ORPHA:206710", "Bulbospinal muscular atrophy of adult": "ORPHA:206707", "Hereditary spherocytosis": "ORPHA:822", "Minkowski-Chauffard disease": "ORPHA:822", "Xeroderma pigmentosum": "ORPHA:910", "Bulbospinal muscular atrophy of childhood": "ORPHA:206704", "Familial aortic dissection": "ORPHA:229", "Annuloaortic ectasia": "ORPHA:229", "Cystic medial necrosis of aorta": "ORPHA:229", "Mitochondrial myopathy": "ORPHA:206966", "NON RARE IN EUROPE: Age-related macular degeneration": "ORPHA:279", "Muscular glycogenosis": "ORPHA:206959", "Glycogen storage myopathy": "ORPHA:206959", "X-linked non-syndromic intellectual disability": "ORPHA:777", "Muscular lipidosis": "ORPHA:206953", "Lipid storage myopathy": "ORPHA:206953", "Hemolytic anemia due to red cell pyruvate kinase deficiency": "ORPHA:766", "Pyruvate kinase deficiency of erythrocytes": "ORPHA:766", "OBSOLETE: Granulomatous myositis": "ORPHA:206979", "Periodic paralysis": "ORPHA:206976", "Hyperlipoproteinemia type 1": "ORPHA:411", "HLP type 1": "ORPHA:411", "Vitamin B12-responsive methylmalonic acidemia": "ORPHA:28", "Adenosylcobalamin deficiency": "ORPHA:28", "Vitamin B12-responsive methylmalonic aciduria": "ORPHA:28", "Congenital myotonia": "ORPHA:206973", "Myotonic syndrome": "ORPHA:206970", "Subacute inflammatory demyelinating polyneuropathy": "ORPHA:206594", "Subacute inflammatory demyelinating polyradiculoneuropathy": "ORPHA:206594", "Isolated asymptomatic elevation of creatine phosphokinase": "ORPHA:206599", "Idiopathic asymptomatic hyperCKemia": "ORPHA:206599", "Isolated asymptomatic hyperCKemia": "ORPHA:206599", "St\u00fcve-Wiedemann syndrome": "ORPHA:3206", "Neonatal Schwartz-Jampel syndrome": "ORPHA:3206", "SJS2": "ORPHA:3206", "STWS": "ORPHA:3206", "Schwartz-Jampel syndrome type 2": "ORPHA:3206", "St\u00fcve-Wiedemann dysplasia": "ORPHA:3206", "St\u00fcve-Wiedemann syndrome type 1": "ORPHA:3206", "Adult polyglucosan body disease": "ORPHA:206583", "APBD": "ORPHA:206583", "Neurolymphomatosis": "ORPHA:206586", "Infectious disease with peripheral neuropathy": "ORPHA:206613", "Okamoto syndrome": "ORPHA:453499", "OBSOLETE: Acquired metabolic neuropathy": "ORPHA:206616", "OBSOLETE: Other muscle weakness and/or chronic muscle pain": "ORPHA:206606", "OBSOLETE: Bone dysplasia, Azouz type": "ORPHA:1844", "OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain": "ORPHA:206610", "Acquired skeletal muscle disease": "ORPHA:206638", "Leber congenital amaurosis": "ORPHA:65", "Amaurosis congenita of Leber": "ORPHA:65", "Progressive muscular dystrophy": "ORPHA:206644", "OBSOLETE: Toxic or/and iatrogenic neuropathy": "ORPHA:206619", "Genetic skeletal muscle disease": "ORPHA:206634", "Autosomal recessive distal myopathy": "ORPHA:206653", "Multiple osteochondromas": "ORPHA:321", "Bessel-Hagen disease": "ORPHA:321", "Multiple cartilaginous exostoses": "ORPHA:321", "Non-dystrophic myopathy": "ORPHA:206656", "Lynch syndrome": "ORPHA:144", "Myotonic dystrophy": "ORPHA:206647", "Autosomal dominant distal myopathy": "ORPHA:206650", "Bardet-Biedl syndrome": "ORPHA:110", "BBS": "ORPHA:110", "Qualitative or quantitative defects of dystrophin": "ORPHA:207085", "Dystrophinopathy": "ORPHA:207085", "OBSOLETE: Orofaciodigital syndrome type 10": "ORPHA:2756", "OBSOLETE: Figuera syndrome": "ORPHA:2756", "OBSOLETE: OFD10": "ORPHA:2756", "OBSOLETE: Oral-facial-digital syndrome type 10": "ORPHA:2756", "OBSOLETE: Orofaciodigital syndrome with fibular aplasia": "ORPHA:2756", "Qualitative or quantitative defects of collagen 6": "ORPHA:207090", "Atypical Rett syndrome": "ORPHA:3095", "Atypical RTT": "ORPHA:3095", "Rett syndrome variant": "ORPHA:3095", "Laminin subunit alpha 2-related muscular dystrophy": "ORPHA:207094", "LAMA2-related muscular dystrophy": "ORPHA:207094", "Qualitative or quantitative defects of merosin": "ORPHA:207094", "Kallmann syndrome-heart disease syndrome": "ORPHA:2326", "Qualitative or quantitative defects of integrin alpha-7": "ORPHA:207098", "Integrinopathy": "ORPHA:207098", "NON RARE IN EUROPE: Sj\u00f6gren syndrome": "ORPHA:378", "NON RARE IN EUROPE: Sicca syndrome": "ORPHA:378", "NON RARE IN EUROPE: Sj\u00f6gren-Gougerot syndrome": "ORPHA:378", "Qualitative or quantitative defects of gamma-sarcoglycan": "ORPHA:207067", "Arachnodactyly-intellectual disability-dysmorphism syndrome": "ORPHA:1130", "De Die-Smulders-Vles-Fryns syndrome": "ORPHA:1130", "Qualitative or quantitative defects of delta-sarcoglycan": "ORPHA:207070", "Qualitative or quantitative defects of dysferlin": "ORPHA:207073", "Dysferlinopathy": "ORPHA:207073", "OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome": "ORPHA:2626", "OBSOLETE: Blethen-Wenick-Hawkins syndrome": "ORPHA:2626", "Qualitative or quantitative defects of caveolin-3": "ORPHA:207078", "Caveolinopathy": "ORPHA:207078", "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome": "ORPHA:3207", "Curatolo-Cilio-Pessagno syndrome": "ORPHA:3207", "Qualitative or quantitative protein defects in neuromuscular diseases": "ORPHA:207049", "Succinic acidemia": "ORPHA:936", "Qualitative or quantitative defects of sarcoglycan": "ORPHA:207052", "Sarcoglycanopathy": "ORPHA:207052", "Qualitative or quantitative defects of alpha-sarcoglycan": "ORPHA:207060", "Qualitative or quantitative defects of beta-sarcoglycan": "ORPHA:207063", "Hypopituitarism-microphthalmia syndrome": "ORPHA:2244", "Kaplowitz-Bodurtha syndrome": "ORPHA:2244", "OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy": "ORPHA:207031", "Acute and subacute inflammatory demyelinating polyneuropathy": "ORPHA:207038", "Acute and subacute inflammatory demyelinating polyradiculoneuropathy": "ORPHA:207038", "Fryns-Smeets-Thiry syndrome": "ORPHA:2058", "Microgastria-limb reduction defect syndrome": "ORPHA:2538", "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome": "ORPHA:1192", "Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome": "ORPHA:1192", "Feigenbaum-Bergeron-Richardson syndrome": "ORPHA:1192", "Malignant lymphoma with peripheral neuropathy": "ORPHA:207046", "Rare hereditary systemic disease with peripheral neuropathy": "ORPHA:207021", "Progressive non-infectious anterior vertebral fusion": "ORPHA:2062", "Copenhagen syndrome": "ORPHA:2062", "PAVF": "ORPHA:2062", "Rare hereditary metabolic disease with peripheral neuropathy": "ORPHA:207018", "Cleft palate-short stature-vertebral anomalies syndrome": "ORPHA:2015", "Mathieu-De Broca-Bony syndrome": "ORPHA:2015", "Cerebellar ataxia with peripheral neuropathy": "ORPHA:207028", "Macrocephaly-short stature-paraplegia syndrome": "ORPHA:2427", "Volcke-Soekarman syndrome": "ORPHA:2427", "Rare hereditary neurologic disease with peripheral neuropathy": "ORPHA:207025", "X-linked intellectual disability-plagiocephaly syndrome": "ORPHA:2898", "Hyde Forster-McCarthy-Berry syndrome": "ORPHA:2898", "OBSOLETE: Acquired rod-body myopathy": "ORPHA:207009", "OBSOLETE: Acquired amyloid myopathy": "ORPHA:207006", "Colobomatous-microphthalmia-heart disease-hearing loss syndrome": "ORPHA:1474", "Hittner-Hirsch-Kreh syndrome": "ORPHA:1474", "Rare hereditary disease with peripheral neuropathy": "ORPHA:207015", "Spinal muscular atrophy associated with central nervous system anomaly": "ORPHA:207012", "Parasitic myositis": "ORPHA:206997", "OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome": "ORPHA:1789", "OBSOLETE: Van Biervliet-Hendrickx-van Ertbruggen syndrome": "ORPHA:1789", "Bacterial myositis": "ORPHA:206994", "OBSOLETE: Endocrine myopathy": "ORPHA:207003", "Fungal myositis": "ORPHA:207000", "Muscular pseudohypertrophy-hypothyroidism syndrome": "ORPHA:2349", "Hoffmann syndrome": "ORPHA:2349", "Kocher-Debr\u00e9-Semelaigne syndrome": "ORPHA:2349", "OBSOLETE: Drug and/or toxic myopathy": "ORPHA:206985", "Lethal recessive chondrodysplasia": "ORPHA:1423", "Maroteaux-Stanescu-Cousin syndrome": "ORPHA:1423", "Hydrocephalus-obesity-hypogonadism syndrome": "ORPHA:2183", "Sengers-Hamel-Otten syndrome": "ORPHA:2183", "Muscular tumor": "ORPHA:206982", "Viral myositis": "ORPHA:206991", "Infectious, fungal or parasitic myopathy": "ORPHA:206988", "Systemic inflammatory disease associated with an acquired peripheral neuropathy": "ORPHA:209007", "Peripheral neuropathy associated with monoclonal gammopathy": "ORPHA:209010", "Aplasia cutis congenita": "ORPHA:1114", "Paraneoplastic sensory ganglionopathy": "ORPHA:208999", "Paraneoplastic sensory neuronopathy": "ORPHA:208999", "Radio-ulnar synostosis-retinal pigment abnormalities syndrome": "ORPHA:3271", "Buntinx-Lormans-Martin syndrome": "ORPHA:3271", "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy": "ORPHA:209004", "OBSOLETE: Craniosynostosis-cataract syndrome": "ORPHA:1530", "Non-paraneoplastic sensory ganglionopathy": "ORPHA:208989", "Non-paraneoplastic sensory neuronopathy": "ORPHA:208989", "OBSOLETE: Other ganglionopathy related to autoimmune diseases": "ORPHA:208994", "OBSOLETE: Other neuronopathy related to autoimmune diseases": "ORPHA:208994", "OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies": "ORPHA:208981", "Acquired sensory ganglionopathy": "ORPHA:208984", "Acquired sensory neuronopathy": "ORPHA:208984", "Ectrodactyly-spina bifida-cardiopathy syndrome": "ORPHA:1894", "Kasznica-Carlson-Coppedge syndrome": "ORPHA:1894", "Chronic acquired demyelinating polyneuropathy": "ORPHA:208974", "CADP": "ORPHA:208974", "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome": "ORPHA:1101", "Cassia Stocco dos Santos syndrome": "ORPHA:1101", "Chronic polyradiculoneuropathy": "ORPHA:208978", "OBSOLETE: Papillary fibroelastoma of the heart": "ORPHA:208600", "OBSOLETE: Cardiac papillary fibroelastoma": "ORPHA:208600", "Hydrocephaly-low insertion umbilicus syndrome": "ORPHA:2184", "Palmer-Pagon syndrome": "ORPHA:2184", "NLRP3-associated autoinflammatory disease": "ORPHA:208650", "CAPS": "ORPHA:464343", "Cryopyrin associated periodic syndrome": "ORPHA:208650", "Cryopyrinopathy": "ORPHA:208650", "NLRP3-associated AID": "ORPHA:208650", "NLRP3-associated autoinflammatory syndrome": "ORPHA:208650", "Dysmorphism-cleft palate-loose skin syndrome": "ORPHA:1779", "Aym\u00e9-Gripp syndrome": "ORPHA:1272", "Brachycephaly-deafness-cataract-intellectual disability syndrome": "ORPHA:1272", "Brachycephaly-hearing loss-cataract-intellectual disability syndrome": "ORPHA:1272", "Fine-Lubinsky syndrome": "ORPHA:1272", "Genetic hypoparathyroidism": "ORPHA:208593", "Genetic hyperparathyroidism": "ORPHA:208596", "Spinocerebellar ataxia type 29": "ORPHA:208513", "Congenital nonprogressive spinocerebellar ataxia": "ORPHA:208513", "SCA29": "ORPHA:208513", "OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome": "ORPHA:3331", "OBSOLETE: Chitty-Hall-Webb syndrome": "ORPHA:3331", "Herpetiform pemphigus": "ORPHA:208524", "Arthrogryposis-hyperkeratosis syndrome, lethal form": "ORPHA:1485", "Johnston-Aarons-Schelley syndrome": "ORPHA:1485", "Autosomal dominant cerebellar ataxia type II": "ORPHA:208508", "ADCA2": "ORPHA:208508", "ADCAII": "ORPHA:208508", "Autosomal dominant cerebellar ataxia type 2": "ORPHA:208508", "Bilateral generalized polymicrogyria": "ORPHA:208447", "Nicolaides-Baraitser syndrome": "ORPHA:3051", "Intellectual disability-sparse hair-brachydactyly syndrome": "ORPHA:3051", "Bilateral frontal polymicrogyria": "ORPHA:208444", "Bilateral parasagittal parieto-occipital polymicrogyria": "ORPHA:208441", "Isolated arrhinia": "ORPHA:1134", "Isolated nose agenesis": "ORPHA:1134", "OBSOLETE: Embryonary disorganization syndrome": "ORPHA:1664", "Familial caudal dysgenesis": "ORPHA:1768", "Rudd-Klimek syndrome": "ORPHA:1768", "Qualitative or quantitative defects of fukutin": "ORPHA:207122", "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type": "ORPHA:2204", "Kozlowski-Tsuruta syndrome": "ORPHA:2204", "Qualitative or quantitative defects of FKRP": "ORPHA:207119", "Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan": "ORPHA:207113", "Secondary alpha-dystroglycanopathy": "ORPHA:207113", "Secondary dystroglycanopathy": "ORPHA:207113", "Progeroid syndrome, Petty type": "ORPHA:2963", "Fontaine progeroid syndrome": "ORPHA:2963", "Petty syndrome": "ORPHA:2963", "Petty-Laxova-Wiedemann syndrome": "ORPHA:2963", "Qualitative or quantitative defects of myotubularin": "ORPHA:207110", "Qualitative or quantitative defects of TRIM32": "ORPHA:207107", "Brachydactylous dwarfism, Mseleni type": "ORPHA:2619", "Mseleni joint disease": "ORPHA:2619", "Qualitative or quantitative defects of calpain": "ORPHA:207104", "Qualitative or quantitative defects of perlecan": "ORPHA:207101", "Craniosynostosis, Boston type": "ORPHA:1541", "Craniosynostosis, Warman type": "ORPHA:1541", "Warman-Mulliken-Hayward syndrome": "ORPHA:1541", "Hardikar syndrome": "ORPHA:1415", "Cholestasis-pigmentary retinopathy-cleft palate syndrome": "ORPHA:1415", "HDKR": "ORPHA:1415", "MED12-related Hardikar syndrome": "ORPHA:1415", "Hirschsprung disease-ganglioneuroblastoma syndrome": "ORPHA:2151", "OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome": "ORPHA:2653", "OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome": "ORPHA:2653", "OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome": "ORPHA:2653", "OBSOLETE: Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome": "ORPHA:2653", "Autosomal dominant adult-onset proximal spinal muscular atrophy": "ORPHA:209335", "Autosomal dominant adult-onset proximal SMA": "ORPHA:209335", "Autosomal dominant late-onset spinal muscular atrophy, Finkel type": "ORPHA:209335", "Finkel disease": "ORPHA:209335", "SMAFK": "ORPHA:209335", "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy": "ORPHA:209341", "DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy": "ORPHA:209341", "SMALED1": "ORPHA:209341", "Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)": "ORPHA:209185", "Sacrococcygeal dysgenesis association": "ORPHA:1773", "Qualitative or quantitative defects of emerin": "ORPHA:209188", "Siegler-Brewer-Carey syndrome": "ORPHA:3167", "Qualitative or quantitative defects of selenoprotein N1": "ORPHA:209193", "Qualitative or quantitative defects of plectin": "ORPHA:209196", "Qualitative or quantitative defects of protein SERCA1": "ORPHA:209199", "Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -": "ORPHA:209203", "Myotilinopathy": "ORPHA:209224", "Qualitative or quantitative defects of myotilin": "ORPHA:209224", "Qualitative or quantitative defects of alphaB-cristallin": "ORPHA:209044", "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome": "ORPHA:1277", "Stratton-Garcia-Young syndrome": "ORPHA:1277", "Qualitative or quantitative defects of desmin": "ORPHA:209041", "Microphthalmia-microtia-fetal akinesia syndrome": "ORPHA:2547", "Thomas-Jewett-Raines syndrome": "ORPHA:2547", "Qualitative or quantitative defects of protein ZASP": "ORPHA:209050", "Qualitative or quantitative defects of filamin C": "ORPHA:209047", "Qualitative or quantitative defects of telethonin": "ORPHA:209056", "Qualitative or quantitative defects of titin": "ORPHA:209053", "Qualitative or quantitative defects of nebulin": "ORPHA:209182", "Facial dysmorphism-shawl scrotum-joint laxity syndrome": "ORPHA:1778", "Seaver-Cassidy syndrome": "ORPHA:1778", "Qualitative or quantitative defects of alpha-actin": "ORPHA:209059", "Intellectual disability-short stature-hypertelorism syndrome": "ORPHA:3074", "Stoll-G\u00e9raudel-Chauvin syndrome": "ORPHA:3074", "Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome": "ORPHA:2649", "Richieri Costa-Guion Almeida syndrome": "ORPHA:2649", "Hematological disease associated with an acquired peripheral neuropathy": "ORPHA:209016", "OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome": "ORPHA:1258", "OBSOLETE: Rodini-Richieri Costa syndrome": "ORPHA:1258", "Acquired amyloid peripheral neuropathy": "ORPHA:209013", "Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase": "ORPHA:209024", "Qualitative or quantitative defects of protein POMGNT1": "ORPHA:209024", "OBSOLETE: Holoacardius amorphus": "ORPHA:2161", "Thoraco-abdominal enteric duplication": "ORPHA:1759", "Solid tumor associated with an acquired peripheral neuropathy": "ORPHA:209019", "Qualitative or quantitative defects of protein O-mannosyltransferase 1": "ORPHA:209030", "Qualitative or quantitative defects of protein glycosyltransferase-like": "ORPHA:209027", "Qualitative or quantitative defects of myofibrillar proteins": "ORPHA:209038", "Qualitative or quantitative defects of protein O-mannosyltransferase 2": "ORPHA:209033", "NON RARE IN EUROPE: Thyroglossal duct cyst": "ORPHA:489", "NON RARE IN EUROPE: Thyroglossal tract cyst": "ORPHA:489", "OBSOLETE: Facial asymmetry-temporal seizures syndrome": "ORPHA:1167", "Intermediate osteopetrosis": "ORPHA:210110", "Autosomal recessive intermediate osteopetrosis": "ORPHA:210110", "Umbilical cord ulceration-intestinal atresia syndrome": "ORPHA:3405", "Sterile multifocal osteomyelitis with periostitis and pustulosis": "ORPHA:210115", "Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency": "ORPHA:210115", "DIRA": "ORPHA:210115", "Interleukin-1 receptor antagonist deficiency": "ORPHA:210115", "OMPP": "ORPHA:210115", "Ectopia lentis-chorioretinal dystrophy-myopia syndrome": "ORPHA:1884", "Noble-Bass-Sherman syndrome": "ORPHA:1884", "IRIDA syndrome": "ORPHA:209981", "Iron-refractory iron deficiency anemia": "ORPHA:209981", "Non-papillary transitional cell carcinoma of the bladder": "ORPHA:209989", "Non-papillary urothelial carcinoma": "ORPHA:209989", "Celiac disease-epilepsy-cerebral calcification syndrome": "ORPHA:1459", "CEC": "ORPHA:1459", "OBSOLETE: Trichodermal syndrome-intellectual disability syndrome": "ORPHA:3360", "OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome": "ORPHA:3360", "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome": "ORPHA:210133", "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome": "ORPHA:210136", "Myalgia-eosinophilia syndrome associated with tryptophan": "ORPHA:2582", "Congenital alveolar capillary dysplasia": "ORPHA:210122", "ACDMPV": "ORPHA:210122", "Alveolar capillary dysplasia with misalignment of pulmonary veins": "ORPHA:210122", "Alveolar capillary dysplasia with misalignment of pulmonary vessels": "ORPHA:210122", "Urocanic aciduria": "ORPHA:210128", "Encephalopathy due to urocanase deficiency": "ORPHA:210128", "Pontocerebellar hypoplasia type 1": "ORPHA:2254", "Norman disease": "ORPHA:2254", "PCH1": "ORPHA:2254", "Phacoanaphylactic uveitis": "ORPHA:209959", "Endophthalmitis phacoanaphylactica": "ORPHA:209959", "Lens-induced endophthalmitis": "ORPHA:209959", "Lens-induced iridocyclitis": "ORPHA:209959", "Lens-induced uveitis": "ORPHA:209959", "Phacoallergic endophthalmitis": "ORPHA:209959", "Phacoantigenic endophthalmitis": "ORPHA:209959", "Phako-anaphylactic endophthalmitis": "ORPHA:209959", "Solitary rectal ulcer syndrome": "ORPHA:209964", "Autosomal spastic paraplegia type 18": "ORPHA:209951", "SPG18": "ORPHA:209951", "Idiopathic uveal effusion syndrome": "ORPHA:209956", "Benign nocturnal alternating hemiplegia of childhood": "ORPHA:209973", "Alternating hemiplegia": "ORPHA:209978", "Episodic ataxia type 6": "ORPHA:209967", "Episodic ataxia type 7": "ORPHA:209970", "Fowler urethral sphincter dysfunction syndrome": "ORPHA:2795", "Fowler syndrome": "ORPHA:2795", "Fowler-Christmas-Chapple syndrome": "ORPHA:2795", "Isolated childhood apraxia of speech": "ORPHA:209908", "Isolated CAS": "ORPHA:209908", "Isolated developmental verbal dyspraxia": "ORPHA:209908", "Pure CAS": "ORPHA:209908", "Pure childhood apraxia of speech": "ORPHA:209908", "Speech and language disorder with orofacial dyspraxia": "ORPHA:209908", "Speech-language disorder type 1": "ORPHA:209908", "OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome": "ORPHA:2033", "Brain-lung-thyroid syndrome": "ORPHA:209905", "Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome": "ORPHA:209905", "OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome": "ORPHA:2458", "OBSOLETE: Opitz-Reynolds-Fitzgerald syndrome": "ORPHA:2458", "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency": "ORPHA:209902", "NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency": "ORPHA:209893", "NON RARE IN EUROPE: Congenital isolated TBG deficiency": "ORPHA:209893", "Adult familial nephronophthisis-spastic quadriparesia syndrome": "ORPHA:2666", "IRVAN syndrome": "ORPHA:209943", "Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome": "ORPHA:209943", "Cone dystrophy with supernormal rod response": "ORPHA:209932", "Cone dystrophy with supernormal rod ERG": "ORPHA:209932", "Cone dystrophy with supernormal rod electroretinogram": "ORPHA:209932", "Cone dystrophy with supernormal scotopic electroretinogram": "ORPHA:209932", "Sacral hemangiomas-multiple congenital abnormalities syndrome": "ORPHA:2125", "Idiopathic copper-associated cirrhosis": "ORPHA:209919", "Non-Wilsonian hepatic copper toxicosis of infancy and childhood": "ORPHA:209919", "OBSOLETE: Choroideremia-hypopituitarism syndrome": "ORPHA:1434", "OBSOLETE: CHM-hypopituitarism syndrome": "ORPHA:1434", "Extraskeletal myxoid chondrosarcoma": "ORPHA:209916", "Microcephaly-seizures-intellectual disability-heart disease syndrome": "ORPHA:2519", "OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome": "ORPHA:1492", "OBSOLETE: Ben Ari-Shuper-Mimouni syndrome": "ORPHA:1492", "Severe neonatal-onset encephalopathy with microcephaly": "ORPHA:209370", "Severe congenital encephalopathy due to MECP2 mutation": "ORPHA:209370", "OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1": "ORPHA:209886", "OBSOLETE: FJHN type 1": "ORPHA:209886", "OBSOLETE: Familial juvenile gouty nephropathy": "ORPHA:209886", "OBSOLETE: Familial nephropathy with gout": "ORPHA:209886", "OBSOLETE: UMOD-associated FJHN": "ORPHA:209886", "OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy": "ORPHA:209886", "Autosomal dominant rhegmatogenous retinal detachment": "ORPHA:209867", "Myoclonic dystonia 15": "ORPHA:210566", "DYT15": "ORPHA:210566", "Myoclonus-dystonia type 15": "ORPHA:210566", "Dystonia 16": "ORPHA:210571", "DYT16": "ORPHA:210571", "Early-onset dystonia parkinsonism": "ORPHA:210571", "Catecholaminergic polymorphic ventricular tachycardia": "ORPHA:3286", "Bidirectional ventricular tachycardia induced by catecholamine": "ORPHA:3286", "CPVT": "ORPHA:3286", "Malignant paroxysmal ventricular tachycardia": "ORPHA:3286", "Polymorphic ventricular tachycardia induced by catecholamines": "ORPHA:3286", "Mal de d\u00e9barquement": "ORPHA:210272", "Disembarkment syndrome": "ORPHA:210272", "MdD": "ORPHA:210272", "MdDS": "ORPHA:210272", "Sickness of disembarkment": "ORPHA:210272", "Macrocephaly-intellectual disability-autism syndrome": "ORPHA:210548", "Adult hepatocellular carcinoma": "ORPHA:210159", "Adult HCC": "ORPHA:210159", "His bundle tachycardia": "ORPHA:3283", "JET": "ORPHA:3283", "Junctional ectopic tachycardia": "ORPHA:3283", "Congenital lethal myopathy, Compton-North type": "ORPHA:210163", "Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome": "ORPHA:3240", "Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome": "ORPHA:3240", "Inherited congenital spastic tetraplegia": "ORPHA:210141", "Inherited congenital spastic quadriplegia": "ORPHA:210141", "Lethal polymalformative syndrome, Boissel type": "ORPHA:210144", "Cryptococcosis": "ORPHA:1546", "Amoebiasis due to Entamoeba histolytica": "ORPHA:67", "OBSOLETE: Giant infantile hemangioma": "ORPHA:210592", "Spindle cell hemangioma": "ORPHA:210584", "Spindle cell hemangioendothelioma": "ORPHA:210584", "Undifferentiated pleomorphic sarcoma": "ORPHA:2023", "UPS": "ORPHA:2023", "Rare infantile hemangioma": "ORPHA:210589", "Infantile hemangioma of rare localization": "ORPHA:210589", "Primary hyperoxaluria": "ORPHA:416", "Congenital temporomandibular joint ankylosis": "ORPHA:210576", "Congenital trismus": "ORPHA:210576", "Temporomandibular joint anomaly": "ORPHA:210581", "Distal myopathy": "ORPHA:599", "Distal muscular dystrophy": "ORPHA:599", "Tularemia": "ORPHA:3392", "Genetic vascular anomaly": "ORPHA:211240", "Tufted angioma": "ORPHA:1063", "Nakagawa angioblastoma": "ORPHA:1063", "Rare vascular tumor": "ORPHA:211237", "Onchocerciasis": "ORPHA:2737", "Episodic ataxia type 5": "ORPHA:211067", "Toxocariasis": "ORPHA:3343", "Hereditary episodic ataxia": "ORPHA:211062", "Specific language disorder": "ORPHA:211053", "Dysphasia": "ORPHA:211053", "Filariasis": "ORPHA:2034", "Specific learning disability": "ORPHA:211047", "Specific learning difficulty": "ORPHA:211047", "Specific learning disorder": "ORPHA:211047", "Mycetoma": "ORPHA:2583", "Madura foot": "ORPHA:2583", "Distomatosis": "ORPHA:1685", "Distomiasis": "ORPHA:1685", "Fluke infection": "ORPHA:1685", "Autosomal dominant proximal spinal muscular atrophy": "ORPHA:211037", "Spinocerebellar ataxia type 30": "ORPHA:211017", "SCA30": "ORPHA:211017", "Ehrlichiosis": "ORPHA:1902", "Hereditary steroid-resistant nephrotic syndrome": "ORPHA:656", "Familial idiopathic steroid-resistant nephrotic syndrome": "ORPHA:656", "Genetic FSGS": "ORPHA:656", "Genetic SRNS": "ORPHA:656", "Hereditary SRNS": "ORPHA:656", "Isolated SRNS": "ORPHA:656", "Monogenic SRNS": "ORPHA:656", "Complex vascular malformation with associated anomalies": "ORPHA:211277", "Hemangiolymphangioma": "ORPHA:211277", "Rare arteriovenous malformation": "ORPHA:211266", "Nephronophthisis": "ORPHA:655", "Rare lymphatic system anomaly": "ORPHA:211255", "Rare venous malformation": "ORPHA:211252", "Rare lymphatic malformation": "ORPHA:2415", "LM": "ORPHA:2415", "Lymphangioma": "ORPHA:2415", "Rare capillary malformation": "ORPHA:211247", "Kaposiform hemangioendothelioma": "ORPHA:2122", "Simple vascular malformation": "ORPHA:211243", "Infantile myofibromatosis": "ORPHA:2591", "Propionic acidemia": "ORPHA:35", "Ketotic hyperglycinemia": "ORPHA:35", "Propionic aciduria": "ORPHA:35", "Propionyl-CoA carboxylase deficiency": "ORPHA:35", "Glycine encephalopathy": "ORPHA:407", "NKA": "ORPHA:407", "Non-ketotic hyperglycinemia": "ORPHA:407", "Leukocyte adhesion deficiency": "ORPHA:2968", "LAD": "ORPHA:2968", "Mitochondrial DNA-related progressive external ophthalmoplegia": "ORPHA:663", "Maternally-inherited CPEO": "ORPHA:663", "Maternally-inherited chronic progressive external ophthalmoplegia": "ORPHA:663", "mtDNA-related progressive external ophthalmoplegia": "ORPHA:663", "Congenital disorder of glycosylation": "ORPHA:137", "CDG": "ORPHA:137", "Carbohydrate deficient glycoprotein syndrome": "ORPHA:137", "Denys-Drash syndrome": "ORPHA:220", "Drash syndrome": "ORPHA:220", "Wilms tumor-DSD syndrome": "ORPHA:220", "Wilms tumor-disorder of sex development syndrome": "ORPHA:220", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency": "ORPHA:5", "LCHAD deficiency": "ORPHA:5", "LCHADD": "ORPHA:5", "Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency": "ORPHA:5", "Congenital dyserythropoietic anemia": "ORPHA:85", "CDA": "ORPHA:85", "Glutaryl-CoA dehydrogenase deficiency": "ORPHA:25", "GA1": "ORPHA:25", "GCDHD": "ORPHA:25", "Glutaric acidemia type 1": "ORPHA:25", "Glutaric aciduria type 1": "ORPHA:25", "Glutaryl-coenzyme A dehydrogenase deficiency": "ORPHA:25", "Rhizomelic chondrodysplasia punctata": "ORPHA:177", "RCDP": "ORPHA:177", "Brachydactyly-nystagmus-cerebellar ataxia syndrome": "ORPHA:1246", "Biemond syndrome": "ORPHA:1246", "Familial melanoma": "ORPHA:618", "Pediatric-onset glaucoma of genetic origin": "ORPHA:359", "Hereditary glaucoma": "ORPHA:359", "Familial partial epilepsy": "ORPHA:309", "Ovarian cancer": "ORPHA:213500", "Ovarian malignant tumor": "ORPHA:213500", "Glycogen storage disease due to lactate dehydrogenase deficiency": "ORPHA:2364", "GSD due to lactate dehydrogenase deficiency": "ORPHA:2364", "Glycogenosis due to lactate dehydrogenase deficiency": "ORPHA:2364", "LDH deficiency": "ORPHA:2364", "Glycogen storage disease due to phosphoglucomutase deficiency": "ORPHA:711", "GSD due to phosphoglucomutase deficiency": "ORPHA:711", "GSD type 14": "ORPHA:711", "GSDXIV": "ORPHA:711", "Glycogen storage disease type 14": "ORPHA:711", "Glycogen storage disease type XIV": "ORPHA:711", "Glycogenosis due to phosphoglucomutase deficiency": "ORPHA:711", "Glycogenosis type 14": "ORPHA:711", "Glycogenosis type XIV": "ORPHA:711", "Phosphoglucomutase 1 deficiency": "ORPHA:711", "Smith-Lemli-Opitz syndrome": "ORPHA:818", "7-dehydrocholesterol reductase deficiency": "ORPHA:818", "RSH syndrome": "ORPHA:818", "SLOS": "ORPHA:818", "Malignant mixed M\u00fcllerian tumor of the ovary": "ORPHA:213512", "MMMT of the ovary": "ORPHA:213512", "Ovarian carcinosarcoma": "ORPHA:213512", "Ovarian malignant mixed M\u00fcllerian tumor": "ORPHA:213512", "Ovarian malignant mixed epithelial mesenchymal tumor": "ORPHA:213512", "Adenocarcinoma of ovary": "ORPHA:213504", "Ovarian adenocarcinoma": "ORPHA:213504", "Cartilage-hair hypoplasia": "ORPHA:175", "Autosomal recessive metaphyseal chondrodysplasia": "ORPHA:175", "Metaphyseal chondrodysplasia, McKusick type": "ORPHA:175", "Cutis laxa": "ORPHA:209", "Medium chain acyl-CoA dehydrogenase deficiency": "ORPHA:42", "ACADM deficiency": "ORPHA:42", "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency": "ORPHA:42", "MCAD deficiency": "ORPHA:42", "MCADD": "ORPHA:42", "Medium chain acyl-coenzyme A dehydrogenase deficiency": "ORPHA:42", "Rare uterine cancer": "ORPHA:213564", "Rare cancer of uterus": "ORPHA:213564", "Rare malignant tumor of uterus": "ORPHA:213564", "Rare uterine malignant tumor": "ORPHA:213564", "Salivary gland type cancer of the breast": "ORPHA:213557", "Salivary gland type carcinoma of the breast": "ORPHA:213557", "OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri": "ORPHA:213574", "OBSOLETE: Envenomization by Bothrops lanceolatus": "ORPHA:1939", "OBSOLETE: Envenomization by the Martinique lancehead viper": "ORPHA:1939", "Rare cancer of corpus uteri": "ORPHA:213569", "Rare malignant tumor of corpus uteri": "ORPHA:213569", "Hereditary site-specific ovarian cancer syndrome": "ORPHA:213524", "OBSOLETE: Familial ovarian cancer": "ORPHA:213517", "OBSOLETE: Familial ovarian malignant tumor": "ORPHA:213517", "Gamma-aminobutyric acid transaminase deficiency": "ORPHA:2066", "GABA transaminase deficiency": "ORPHA:2066", "Bifunctional enzyme deficiency": "ORPHA:300", "Metaplastic carcinoma of the breast": "ORPHA:213531", "Rare adenocarcinoma of the breast": "ORPHA:213528", "Congenital pulmonary veins atresia or stenosis": "ORPHA:3188", "Carcinofibroma of the corpus uteri": "ORPHA:213605", "Carcinosarcoma of the corpus uteri": "ORPHA:213610", "Malignant mixed M\u00fcllerian tumor of the corpus uteri": "ORPHA:213610", "Mixed M\u00fcllerian cancer of corpus uteri": "ORPHA:213610", "Uterine carcinosarcoma": "ORPHA:213610", "Congenital pulmonary sequestration": "ORPHA:3161", "Congenital bronchopulmonary sequestration": "ORPHA:3161", "Malignant mixed epithelial and mesenchymal tumor of corpus uteri": "ORPHA:213589", "Mixed epithelial and mesenchymal cancer of corpus uteri": "ORPHA:213589", "Adenosarcoma of the corpus uteri": "ORPHA:213600", "Congenitally uncorrected transposition of the great arteries": "ORPHA:860", "Congenitally uncorrected transposition of the great vessels": "ORPHA:860", "D-transposition of the great arteries": "ORPHA:860", "Dextro-transposition of the great arteries": "ORPHA:860", "Isolated ventriculoarterial discordance": "ORPHA:860", "Ventriculoarterial discordance with atrioventricular concordance": "ORPHA:860", "Leiomyosarcoma of the corpus uteri": "ORPHA:213625", "Scimitar syndrome": "ORPHA:185", "Congenital pulmonary venolobar syndrome": "ORPHA:185", "Epibronchial right pulmonary vein syndrome": "ORPHA:185", "Halasz syndrome": "ORPHA:185", "Hypogenetic lung syndrome": "ORPHA:185", "Primitive neuroectodermal tumor of the corpus uteri": "ORPHA:213630", "Malignant peripheral neuroectodermal tumor of the corpus uteri": "ORPHA:213630", "Peripheral neuroectodermal cancer of the corpus uteri": "ORPHA:213630", "Subpulmonary stenosis": "ORPHA:3190", "Rhabdomyosarcoma of the corpus uteri": "ORPHA:213615", "Sarcoma of the corpus uteri": "ORPHA:213620", "Congenital pulmonary valvar stenosis": "ORPHA:3189", "Congenital stenosis of pulmonary valve": "ORPHA:3189", "Undifferentiated carcinoma of the corpus uteri": "ORPHA:213721", "Endometrial undifferentiated carcinoma": "ORPHA:213721", "Univentricular heart": "ORPHA:1464", "Double inlet atrioventricular connection": "ORPHA:1464", "Serous carcinoma of the corpus uteri": "ORPHA:213726", "Endometrial serous carcinoma": "ORPHA:213726", "Aorto-ventricular tunnel": "ORPHA:3400", "Endometrial stromal sarcoma": "ORPHA:213711", "Stromal sarcoma of the corpus uteri": "ORPHA:213711", "Squamous cell carcinoma of the corpus uteri": "ORPHA:213716", "Endometrial squamous cell carcinoma": "ORPHA:213716", "OBSOLETE: Adenoid cystic carcinoma of the corpus uteri": "ORPHA:213741", "OBSOLETE: Endometrial adenoid cystic carcinoma": "ORPHA:213741", "Transitional cell carcinoma of the corpus uteri": "ORPHA:213746", "Endometrial transitional cell carcinoma": "ORPHA:213746", "Common variable immunodeficiency": "ORPHA:1572", "CVID": "ORPHA:1572", "Idiopathic immunoglobulin deficiency": "ORPHA:1572", "Primary antibody deficiency": "ORPHA:1572", "Primary hypogammaglobulinemia": "ORPHA:1572", "High-grade neuroendocrine carcinoma of the corpus uteri": "ORPHA:213731", "High-grade neuroendocrine carcinoma of the uterine corpus": "ORPHA:213731", "Poorly differentiated neuroendocrine carcinoma of the corpus uteri": "ORPHA:213731", "Poorly differentiated neuroendocrine carcinoma of the endometrium": "ORPHA:213731", "Autoimmune lymphoproliferative syndrome": "ORPHA:3261", "ALPS": "ORPHA:3261", "Canale-Smith syndrome": "ORPHA:3261", "Low-grade neuroendocrine tumor of the corpus uteri": "ORPHA:213736", "Low-grade neuroendocrine tumor of the uterine corpus": "ORPHA:213736", "Well-differentiated neuroendocrine neoplasm of the endometrium": "ORPHA:213736", "Well-differentiated neuroendocrine tumor of the corpus uteri": "ORPHA:213736", "Well-differentiated neuroendocrine tumor of the endometrium": "ORPHA:213736", "Perlman syndrome": "ORPHA:2849", "Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome": "ORPHA:2849", "Adenocarcinoma of the cervix uteri": "ORPHA:213772", "Cervical adenocarcinoma": "ORPHA:213772", "Squamous cell carcinoma of the cervix uteri": "ORPHA:213767", "Cervical squamous cell carcinoma": "ORPHA:213767", "Rare cancer of cervix uteri": "ORPHA:213761", "Rare cervical cancer": "ORPHA:213761", "Rare cervical malignant tumor": "ORPHA:213761", "Rare malignant tumor of cervix uteri": "ORPHA:213761", "Malignant germ cell tumor of the corpus uteri": "ORPHA:213751", "Germ cell cancer of the corpus uteri": "ORPHA:213751", "Adenosarcoma of the cervix uteri": "ORPHA:213792", "Cervical adenosarcoma": "ORPHA:213792", "Carcinosarcoma of the cervix uteri": "ORPHA:213787", "Cervical carcinosarcoma": "ORPHA:213787", "Cervical malignant M\u00fcllerian mixed tumor": "ORPHA:213787", "Malignant M\u00fcllerian mixed tumor of the cervix uteri": "ORPHA:213787", "Malignant mixed epithelial and mesenchymal tumor of cervix uteri": "ORPHA:213782", "Cervical malignant mixed epithelial and mesenchymal tumor": "ORPHA:213782", "Mixed epithelial and mesenchymal cancer of cervix uteri": "ORPHA:213782", "High-grade neuroendocrine carcinoma of the cervix uteri": "ORPHA:213777", "High-grade neuroendocrine carcinoma of the uterine cervix": "ORPHA:213777", "Poorly differentiated neuroendocrine carcinoma of the cervix uteri": "ORPHA:213777", "Poorly differentiated neuroendocrine cervical carcinoma": "ORPHA:213777", "Primitive neuroectodermal tumor of the cervix uteri": "ORPHA:213812", "Cervical malignant peripheral neuroectodermal tumor": "ORPHA:213812", "Cervical peripheral neuroectodermal cancer": "ORPHA:213812", "Malignant peripheral neuroectodermal tumor of the cervix uteri": "ORPHA:213812", "Peripheral neuroectodermal cancer of cervix uteri": "ORPHA:213812", "Autoimmune pulmonary alveolar proteinosis": "ORPHA:747", "Autoimmune PAP": "ORPHA:747", "aPAP": "ORPHA:747", "Leiomyosarcoma of the cervix uteri": "ORPHA:213807", "Cervical leiomyosarcoma": "ORPHA:213807", "Rhabdomyosarcoma of the cervix uteri": "ORPHA:213802", "Cervical rhabdomyosarcoma": "ORPHA:213802", "Musculocontractural Ehlers-Danlos syndrome": "ORPHA:2953", "Adducted thumb-clubfoot syndrome": "ORPHA:2953", "Distal arthrogryposis with peculiar facies and hydronephrosis": "ORPHA:2953", "D\u00fcndar syndrome": "ORPHA:2953", "Ehlers-Danlos syndrome, Kosho type": "ORPHA:2953", "Musculocontractural EDS": "ORPHA:2953", "mcEDS": "ORPHA:2953", "Sarcoma of cervix uteri": "ORPHA:213797", "Cervical malignant mesenchymal tumor": "ORPHA:213797", "Cervical sarcoma": "ORPHA:213797", "Malignant mesenchymal tumor of cervix uteri": "ORPHA:213797", "Glassy cell carcinoma of the cervix uteri": "ORPHA:213833", "OBSOLETE: Vascular disruption sequence": "ORPHA:3160", "Adenoid basal carcinoma of the cervix uteri": "ORPHA:213828", "Cervical adenoid basal carcinoma": "ORPHA:213828", "Adenoid cystic carcinoma of the cervix uteri": "ORPHA:213823", "Cervical adenoid cystic carcinoma": "ORPHA:213823", "Intellectual disability-polydactyly-uncombable hair syndrome": "ORPHA:3082", "Kozlowski-Krajewska syndrome": "ORPHA:3082", "OBSOLETE: Papillary carcinoma of the cervix uteri": "ORPHA:213817", "OBSOLETE: Cervical papillary carcinoma": "ORPHA:213817", "Axenfeld-Rieger syndrome": "ORPHA:782", "Axenfeld syndrome": "ORPHA:782", "Rieger syndrome": "ORPHA:782", "Isolated radio-ulnar synostosis": "ORPHA:3269", "Isolated congenital radioulnar fusion": "ORPHA:3269", "Malignant germ cell tumor of the cervix uteri": "ORPHA:213837", "Cervical germ cell cancer": "ORPHA:213837", "Cervical malignant germ cell tumor": "ORPHA:213837", "Germ cell cancer of the cervix uteri": "ORPHA:213837", "Syndactyly-polydactyly-ear lobe syndrome": "ORPHA:3259", "Prelingual non-syndromic genetic deafness": "ORPHA:216445", "Isolated prelingual genetic deafness": "ORPHA:216445", "Isolated prelingual genetic hearing loss": "ORPHA:216445", "Prelingual non-syndromic genetic hearing loss": "ORPHA:216445", "Tetrasomy 5p syndrome": "ORPHA:3309", "Isochromosome 5p": "ORPHA:3309", "Postlingual non-syndromic genetic deafness": "ORPHA:216452", "Isolated postlingual genetic deafness": "ORPHA:216452", "Isolated postlingual genetic hearing loss": "ORPHA:216452", "Postlingual non-syndromic genetic hearing loss": "ORPHA:216452", "Transposition of the great arteries": "ORPHA:216675", "Complete transposition": "ORPHA:216675", "TGA": "ORPHA:216675", "TGV": "ORPHA:216675", "Transposition of the great vessels": "ORPHA:216675", "Distal duplication 17q syndrome": "ORPHA:3379", "Distal trisomy 17q": "ORPHA:3379", "Telomeric duplication 17q": "ORPHA:3379", "Trisomy 17qter": "ORPHA:3379", "Congenitally corrected transposition of the great arteries": "ORPHA:216694", "Congenitally corrected transposition of the great vessels": "ORPHA:216694", "Discordant ventriculoarterial and atrioventricular connections": "ORPHA:216694", "Double discordance": "ORPHA:216694", "L-transposition of the great arteries": "ORPHA:216694", "Levo-transposition of the great arteries": "ORPHA:216694", "Ventricular inversion": "ORPHA:216694", "Ventriculoarterial and atrioventricular discordance": "ORPHA:216694", "Isolated congenitally uncorrected transposition of the great arteries": "ORPHA:216718", "Isolated congenitally uncorrected transposition of the great vessels": "ORPHA:216718", "Congenitally uncorrected transposition of the great arteries with cardiac malformation": "ORPHA:216729", "Congenitally uncorrected transposition of the great vessels with cardiac malformation": "ORPHA:216729", "TGA with cardiac malformation": "ORPHA:216729", "Double uterus-hemivagina-renal agenesis syndrome": "ORPHA:3411", "Double uterus and obstructed hemivagina syndrome": "ORPHA:3411", "HWW syndrome": "ORPHA:3411", "Herlyn-Werner-Wunderlich syndrome": "ORPHA:3411", "OHVIRA syndrome": "ORPHA:3411", "Obstructed hemivagina and ipsilateral renal anomaly": "ORPHA:3411", "Tyrosinemia type 1": "ORPHA:882", "FAH deficiency": "ORPHA:882", "Fumarylacetoacetase deficiency": "ORPHA:882", "Fumarylacetoacetate hydrolase deficiency": "ORPHA:882", "Hepatorenal tyrosinemia": "ORPHA:882", "Tyrosinemia type I": "ORPHA:882", "Osteogenesis imperfecta type 1": "ORPHA:216796", "Adair-Dighton syndrome": "ORPHA:216796", "Mild osteogenesis imperfecta": "ORPHA:216796", "Non-deforming osteogenesis imperfecta": "ORPHA:216796", "OI type 1": "ORPHA:216796", "Van der Hoeve syndrome": "ORPHA:216796", "Von Willebrand disease": "ORPHA:903", "Hereditary pseudohaemophilia": "ORPHA:903", "Hereditary von Willebrand disease": "ORPHA:903", "Osteogenesis imperfecta type 2": "ORPHA:216804", "Lethal osteogenesis imperfecta": "ORPHA:216804", "OI type 2": "ORPHA:216804", "Osteogenesis imperfecta type 3": "ORPHA:216812", "OI type 3": "ORPHA:216812", "Progressive deforming osteogenesis imperfecta": "ORPHA:216812", "Severe osteogenesis imperfecta": "ORPHA:216812", "X-linked fetal akinesia syndrome": "ORPHA:995", "Holmes-Benacerraf syndrome": "ORPHA:995", "Osteogenesis imperfecta type 4": "ORPHA:216820", "OI type 4": "ORPHA:216820", "Osteogenesis imperfecta type 5": "ORPHA:216828", "OI type 5": "ORPHA:216828", "CHIME syndrome": "ORPHA:3474", "Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome": "ORPHA:3474", "Congenital disorder of glycosylation due to PIGL deficiency": "ORPHA:3474", "Neuroectodermal dysplasia, CHIME type": "ORPHA:3474", "Neuroectodermal syndrome, Zunich type": "ORPHA:3474", "PIGL-CDG": "ORPHA:3474", "Zunich-Kaye syndrome": "ORPHA:3474", "Classic pantothenate kinase-associated neurodegeneration": "ORPHA:216866", "NBIA1, classic form": "ORPHA:216866", "Neurodegeneration with brain iron accumulation type 1, classic form": "ORPHA:216866", "PKAN, classic form": "ORPHA:216866", "Atypical pantothenate kinase-associated neurodegeneration": "ORPHA:216873", "NBIA1, atypical form": "ORPHA:216873", "Neurodegeneration with brain iron accumulation type 1, atypical form": "ORPHA:216873", "PKAN, atypical form": "ORPHA:216873", "OBSOLETE: Sino-auricular heart block": "ORPHA:1260", "Niemann-Pick disease type C, severe perinatal form": "ORPHA:216972", "Ring chromosome 17 syndrome": "ORPHA:1441", "Ring 17": "ORPHA:1441", "Ring chromosome 17": "ORPHA:1441", "Niemann-Pick disease type C, late infantile neurologic onset": "ORPHA:216978", "Familial glucocorticoid deficiency": "ORPHA:361", "Niemann-Pick disease type C, severe early infantile neurologic onset": "ORPHA:216975", "Niemann-Pick disease type C, adult neurologic onset": "ORPHA:216986", "Acrofacial dysostosis, Palagonia type": "ORPHA:1787", "Niemann-Pick disease type C, juvenile neurologic onset": "ORPHA:216981", "Niemann-Pick disease type C, classic form": "ORPHA:216981", "NON RARE IN EUROPE: Trochlear dysplasia": "ORPHA:1863", "NON RARE IN EUROPE: Femoral trochlear groove insufficiency": "ORPHA:1863", "NON RARE IN EUROPE: Hypoplasia of the femoral trochlea": "ORPHA:1863", "Bockenheimer syndrome": "ORPHA:217008", "Genuine diffuse phlebectasia": "ORPHA:217008", "Autosomal dominant dystrophic epidermolysis bullosa, Pasini type": "ORPHA:216989", "DDEB, Pasini type": "ORPHA:216989", "Zechi-Ceide syndrome": "ORPHA:217017", "Occipital atretic cephalocele-unusual facies-large feet syndrome": "ORPHA:217017", "Spinocerebellar ataxia type 31": "ORPHA:217012", "SCA31": "ORPHA:217012", "Fanconi-Bickel syndrome": "ORPHA:2088", "GSD due to GLUT2 deficiency": "ORPHA:2088", "Glycogen storage disease due to GLUT2 deficiency": "ORPHA:2088", "Glycogenosis due to GLUT2 deficiency": "ORPHA:2088", "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type": "ORPHA:217026", "Hadziselimovic syndrome": "ORPHA:217026", "Microcephaly-faciocardioskeletal syndrome": "ORPHA:217026", "OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly": "ORPHA:217023", "OBSOLETE: Atypical HUS with thrombomodulin anomaly": "ORPHA:217023", "OBSOLETE: D- HUS with thrombomodulin anomaly": "ORPHA:217023", "OBSOLETE: Hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly": "ORPHA:217023", "OBSOLETE: aHUS with thrombomodulin anomaly": "ORPHA:217023", "Male infertility with normal virilization due to meiosis defect": "ORPHA:217034", "Azoospermia due to maturation arrest": "ORPHA:217034", "Azoospermia due to meiosis defect": "ORPHA:217034", "Male infertility with normal virilization due to maturation arrest": "ORPHA:217034", "NON RARE IN EUROPE: Obesity due to MC3R deficiency": "ORPHA:217031", "OBSOLETE: Rare non-syndromic cataract": "ORPHA:217049", "OBSOLETE: Autosomal recessive childhood-onset cortical cataract": "ORPHA:217046", "BNAR syndrome": "ORPHA:217266", "Bifid nose with or without anorectal and renal anomalies": "ORPHA:217266", "Birdshot chorioretinopathy": "ORPHA:179", "Birdshot chorioretinitis": "ORPHA:179", "Birdshot retinochoroiditis": "ORPHA:179", "Birdshot retinochoroidopathy": "ORPHA:179", "Vitiliginous choroiditis": "ORPHA:179", "Progressive multifocal leukoencephalopathy": "ORPHA:217260", "PML": "ORPHA:217260", "Progressive multifocal leukoencephalitis": "ORPHA:217260", "Congenital enterovirus infection": "ORPHA:292", "Antenatal enterovirus infection": "ORPHA:292", "Mother-to-child transmission of enterovirus infection": "ORPHA:292", "NMDA receptor encephalitis": "ORPHA:217253", "Limbic encephalitis with N-methyl-D-aspartate receptor antibodies": "ORPHA:217253", "Limbic encephalitis with NMDA receptor antibodies": "ORPHA:217253", "N-methyl-D-aspartate receptor encephalitis": "ORPHA:217253", "NMDARE": "ORPHA:217253", "anti-NMDA receptor encephalitis": "ORPHA:217253", "Polyarteritis nodosa": "ORPHA:767", "K\u00fcssmaul-Maier disease": "ORPHA:767", "PAN": "ORPHA:767", "Periarteritis nodosa": "ORPHA:767", "Classic mycosis fungoides": "ORPHA:2584", "Mycosis fungoides, Alibert-Bazin type": "ORPHA:2584", "Mucopolysaccharidosis type 2, attenuated form": "ORPHA:217093", "Hunter syndrome type B": "ORPHA:217093", "Iduronate 2-sulfatase deficiency type B": "ORPHA:217093", "MPS2B": "ORPHA:217093", "MPSIIB": "ORPHA:217093", "Mucopolysaccharidosis type 2B": "ORPHA:217093", "Mucopolysaccharidosis type II, attenuated form": "ORPHA:217093", "Mucopolysaccharidosis type IIB": "ORPHA:217093", "S\u00e9zary syndrome": "ORPHA:3162", "S\u00e9zary lymphoma": "ORPHA:3162", "Mucopolysaccharidosis type 2, severe form": "ORPHA:217085", "Hunter syndrome type A": "ORPHA:217085", "Iduronate 2-sulfatase deficiency type A": "ORPHA:217085", "MPS2A": "ORPHA:217085", "MPSIIA": "ORPHA:217085", "Mucopolysaccharidosis type 2A": "ORPHA:217085", "Mucopolysaccharidosis type II, severe form": "ORPHA:217085", "Mucopolysaccharidosis type IIA": "ORPHA:217085", "Pulmonary fungal infections in patients deemed at risk": "ORPHA:217080", "Rare carcinoma of pancreas": "ORPHA:217074", "Rare pancreatic carcinoma": "ORPHA:217074", "Kasabach-Merritt phenomenon": "ORPHA:2330", "Hemangioma-thrombocytopenia syndrome": "ORPHA:2330", "Renal cell carcinoma": "ORPHA:217071", "RCC": "ORPHA:217071", "Pouchitis": "ORPHA:217067", "Noma": "ORPHA:2700", "Cancrum oris": "ORPHA:2700", "5-fluorouracil poisoning": "ORPHA:217064", "5-fluorouracil intoxication": "ORPHA:217064", "CINCA syndrome": "ORPHA:1451", "Chronic infantile neurological cutaneous and articular syndrome": "ORPHA:1451", "IOMID syndrome": "ORPHA:1451", "Infantile-onset multisystem inflammatory disease": "ORPHA:1451", "NOMID syndrome": "ORPHA:1451", "Neonatal-onset multisystem inflammatory disease": "ORPHA:1451", "Prieur-Griscelli syndrome": "ORPHA:1451", "Isolated nail clubbing": "ORPHA:217059", "Isolated congenital acropachy": "ORPHA:217059", "Isolated congenital digital clubbing": "ORPHA:217059", "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A": "ORPHA:217055", "RI-CMT type A": "ORPHA:217055", "Malakoplakia": "ORPHA:556", "OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis": "ORPHA:2778", "OBSOLETE: Juvenile CRMO": "ORPHA:2778", "OBSOLETE: Infantile non-syndromic cataract": "ORPHA:217052", "RIN2 syndrome": "ORPHA:217335", "MACS syndrome": "ORPHA:217335", "Macrocephaly-alopecia-cutis laxa-scoliosis syndrome": "ORPHA:217335", "RIN2 deficiency": "ORPHA:217335", "Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome": "ORPHA:217335", "Opitz GBBB syndrome": "ORPHA:2745", "Hypertelorism-hypospadias syndrome": "ORPHA:2745", "Hypertelorism-oesophageal abnormality-hypospadias syndrome": "ORPHA:2745", "Hypospadias-dysphagia syndrome": "ORPHA:2745", "Opitz BBB/G syndrome": "ORPHA:2745", "Opitz BBBG syndrome": "ORPHA:2745", "Opitz G/BBB syndrome": "ORPHA:2745", "Opitz-Frias syndrome": "ORPHA:2745", "17q21.31 microduplication syndrome": "ORPHA:217340", "Dup(17)(q21.31)": "ORPHA:217340", "Trisomy 17q21.31": "ORPHA:217340", "Idiopathic hypereosinophilic syndrome": "ORPHA:3260", "Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome": "ORPHA:217315", "Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome": "ORPHA:217315", "Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome": "ORPHA:217315", "Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome": "ORPHA:217315", "REN-related autosomal dominant tubulointerstitial kidney disease": "ORPHA:217330", "ADTKD-REN": "ORPHA:217330", "FJHN type 2": "ORPHA:217330", "Familial juvenile hyperuricemic nephropathy type 2": "ORPHA:217330", "REN-associated FJHN": "ORPHA:217330", "REN-associated familial juvenile hyperuricemic nephropathy": "ORPHA:217330", "REN-associated kidney disease": "ORPHA:217330", "NON RARE IN EUROPE: Dementia with Lewy body": "ORPHA:1648", "NON RARE IN EUROPE: Cortical Lewy body disease": "ORPHA:1648", "NON RARE IN EUROPE: DLB": "ORPHA:1648", "NON RARE IN EUROPE: Diffuse Lewy body disease": "ORPHA:1648", "NON RARE IN EUROPE: Lewy body dementia": "ORPHA:1648", "Optic pathway glioma": "ORPHA:2086", "Chronic Epstein-Barr virus infection syndrome": "ORPHA:2566", "CAEBV syndrome": "ORPHA:2566", "Chronic EBV infection syndrome": "ORPHA:2566", "African trypanosomiasis": "ORPHA:3385", "Sleeping sickness": "ORPHA:3385", "Cysticercosis": "ORPHA:1560", "Congenital microcoria": "ORPHA:566", "Congenital miosis": "ORPHA:566", "OBSOLETE: Arbovirus fever": "ORPHA:344", "Viral hemorrhagic fever": "ORPHA:341", "Hemorrhagic fever-renal syndrome": "ORPHA:340", "Hantavirosis": "ORPHA:340", "Hantavirus fever": "ORPHA:340", "Microsporidiosis": "ORPHA:2552", "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome": "ORPHA:1171", "CAPOS syndrome": "ORPHA:1171", "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome": "ORPHA:1171", "Triatrial heart": "ORPHA:1463", "Cor triatriatum": "ORPHA:1463", "Neuroendocrine cell hyperplasia of infancy": "ORPHA:217560", "NCHI": "ORPHA:217560", "NEHI": "ORPHA:217560", "Pulmonary interstitial glycogenosis": "ORPHA:217557", "Infantile cellular interstitial pneumonitis": "ORPHA:217557", "PIG": "ORPHA:217557", "Cardiac diverticulum": "ORPHA:1686", "Chronic respiratory distress with surfactant metabolism deficiency": "ORPHA:217566", "Neonatal acute respiratory distress syndrome": "ORPHA:217563", "Hyaline membrane disease": "ORPHA:70587", "Neonatal RDS": "ORPHA:217563", "Neonatal acute respiratory distress due to surfactant protein deficiency": "ORPHA:217563", "OBSOLETE: Congenital valvular dysplasia": "ORPHA:1864", "OBSOLETE: Circumscribed lymphatic malformation": "ORPHA:217410", "OBSOLETE: Circumscribed lymphangioma": "ORPHA:217410", "Hereditary hypotrichosis with recurrent skin vesicles": "ORPHA:217407", "Middle aortic syndrome": "ORPHA:1456", "Abdominal coarctation": "ORPHA:1456", "Coarctation of the abdominal aorta": "ORPHA:1456", "MAC": "ORPHA:98938", "Mid-aortic dysplastic syndrome": "ORPHA:1456", "Mid-aortic syndrome": "ORPHA:1456", "Midaortic syndrome": "ORPHA:1456", "Middle aortic coarctation": "ORPHA:1456", "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency": "ORPHA:217467", "Hereditary thrombophilia due to congenital HRG deficiency": "ORPHA:217467", "Rare hereditary thrombophilia": "ORPHA:217454", "Aorta coarctation": "ORPHA:1457", "Combined immunodeficiency due to DOCK8 deficiency": "ORPHA:217390", "CID due to DOCK8 deficiency": "ORPHA:217390", "Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency": "ORPHA:217390", "DOCK8 immunodeficiency syndrome": "ORPHA:217390", "Aortic arch defects": "ORPHA:1132", "17p13.3 microduplication syndrome": "ORPHA:217385", "17p13.3 duplication syndrome": "ORPHA:217385", "Dup(17)(p13.3)": "ORPHA:217385", "Trisomy 17p13.3": "ORPHA:217385", "Abnormal origin of the pulmonary artery": "ORPHA:1138", "Pulmonary atresia with ventricular septal defect": "ORPHA:1207", "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation": "ORPHA:217399", "Congenital absence of pain with hyperhidrosis": "ORPHA:217399", "Congenital analgesia with hyperhidrosis": "ORPHA:217399", "Congenital indifference to pain with hyperhidrosis": "ORPHA:217399", "Congenital insensitivity to pain with hyperhidrosis": "ORPHA:217399", "Progressive polyneuropathy with bilateral striatal necrosis": "ORPHA:217396", "Pulmonary valve agenesis": "ORPHA:982", "Absent pulmonary valve syndrome": "ORPHA:982", "Congenital absence of the pulmonary valve": "ORPHA:982", "PVA": "ORPHA:982", "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins": "ORPHA:217371", "Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins": "ORPHA:217371", "19q13.11 microdeletion syndrome": "ORPHA:217346", "Del(19)(q13.11)": "ORPHA:217346", "Monosomy 19q13.11": "ORPHA:217346", "Absence of the pulmonary artery": "ORPHA:980", "Aplasia of pulmonary artery": "ORPHA:980", "UAPA": "ORPHA:980", "Unilateral Pulmonary Artery Absence": "ORPHA:980", "Unilateral pulmonary artery agenesis": "ORPHA:980", "Neurodegenerative syndrome due to cerebral folate transport deficiency": "ORPHA:217382", "Cerebral folate deficiency": "ORPHA:217382", "Cerebral folate transport deficiency": "ORPHA:217382", "Folate receptor alpha deficiency": "ORPHA:217382", "Aneurysm of sinus of Valsalva": "ORPHA:1054", "SOVA": "ORPHA:1054", "SVA": "ORPHA:1054", "Sinus of Valsalva aneurysm": "ORPHA:1054", "Coronary artery congenital malformation": "ORPHA:1081", "Microduplication Xp11.22p11.23 syndrome": "ORPHA:217377", "Dup(X)(p11.22p11.23)": "ORPHA:217377", "Trisomy Xp11.22p11.23": "ORPHA:217377", "Congenital systemic veins anomaly": "ORPHA:3091", "Mitochondrial disease with dilated cardiomyopathy": "ORPHA:217613", "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy": "ORPHA:217616", "Syndrome associated with dilated cardiomyopathy": "ORPHA:217619", "Congenital aortic valve stenosis": "ORPHA:3093", "Sensorineural deafness with dilated cardiomyopathy": "ORPHA:217622", "Neurosensory deafness with dilated cardiomyopathy": "ORPHA:217622", "Neurosensory hearing loss with dilated cardiomyopathy": "ORPHA:217622", "Sensorineural hearing loss with dilated cardiomyopathy": "ORPHA:217622", "Fixed subaortic stenosis": "ORPHA:3092", "OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training": "ORPHA:217601", "Dilated cardiomyopathy": "ORPHA:217604", "Aortic arch interruption": "ORPHA:2299", "Double outlet left ventricle": "ORPHA:3427", "DOLV": "ORPHA:3427", "Familial dilated cardiomyopathy": "ORPHA:217607", "Neuromuscular disease with dilated cardiomyopathy": "ORPHA:217610", "Double outlet right ventricle": "ORPHA:3426", "DORV": "ORPHA:3426", "Isolated right ventricular hypoplasia": "ORPHA:439", "Mitochondrial disease with hypertrophic cardiomyopathy": "ORPHA:217587", "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy": "ORPHA:217591", "Idiopathic/heritable pulmonary arterial hypertension": "ORPHA:422", "Idiopathic and/or familial pulmonary arterial hypertension": "ORPHA:422", "Syndrome associated with hypertrophic cardiomyopathy": "ORPHA:217595", "Congenital mitral malformation": "ORPHA:2447", "Non-familial hypertrophic cardiomyopathy": "ORPHA:217598", "Pulmonary arteriovenous malformation": "ORPHA:2038", "PAVM": "ORPHA:2038", "Rare hypertrophic cardiomyopathy": "ORPHA:217569", "Congenital aortopulmonary window": "ORPHA:2037", "Congenital aortopulmonary artery fistula": "ORPHA:2037", "Congenital aortopulmonary septal defect": "ORPHA:2037", "Glycogen storage disease with hypertrophic cardiomyopathy": "ORPHA:217572", "GSD with hypertrophic cardiomyopathy": "ORPHA:217572", "Glycogenosis with hypertrophic cardiomyopathy": "ORPHA:217572", "Coronary arterial fistula": "ORPHA:2041", "Lysosomal disease with hypertrophic cardiomyopathy": "ORPHA:217581", "Congenital systemic arteriovenous fistula": "ORPHA:2039", "Frontotemporal dementia": "ORPHA:282", "FTD": "ORPHA:282", "Non-familial restrictive cardiomyopathy": "ORPHA:217720", "Congenital factor XIII deficiency": "ORPHA:331", "Fibrin-stabilizing factor deficiency": "ORPHA:331", "Carnitine-acylcarnitine translocase deficiency": "ORPHA:159", "CACT deficiency": "ORPHA:159", "Primary cutaneous lymphoma": "ORPHA:542", "Plague": "ORPHA:707", "Y. pestis infection": "ORPHA:707", "Yersinia pestis infection": "ORPHA:707", "Lysosomal disease with restrictive cardiomyopathy": "ORPHA:217638", "Familial restrictive cardiomyopathy": "ORPHA:217635", "Congenital fibrinogen deficiency": "ORPHA:335", "Restrictive cardiomyopathy": "ORPHA:217632", "Non-familial dilated cardiomyopathy": "ORPHA:217629", "Unclassified cardiomyopathy": "ORPHA:217678", "Congenital alpha2-antiplasmin deficiency": "ORPHA:79", "Inherited isolated arrhythmogenic cardiomyopathy": "ORPHA:217656", "ACM": "ORPHA:217656", "Familial isolated arrhythmogenic right ventricular dysplasia": "ORPHA:217656", "Anisakiasis": "ORPHA:1070", "Cogan syndrome": "ORPHA:1467", "Histidinemia": "ORPHA:2157", "HAL deficiency": "ORPHA:2157", "HIS deficiency": "ORPHA:2157", "Histidase deficiency": "ORPHA:2157", "Histidine ammonia-lyase deficiency": "ORPHA:2157", "Histidinuria": "ORPHA:2157", "Hyperhistidinemia": "ORPHA:2157", "Limited cutaneous systemic sclerosis": "ORPHA:220402", "Limited cutaneous systemic scleroderma": "ORPHA:220402", "Saccharopinuria": "ORPHA:3124", "Hyperlysinemia type II": "ORPHA:3124", "Saccharopine dehydrogenase deficiency": "ORPHA:3124", "Limited systemic sclerosis": "ORPHA:220407", "Systemic sclerosis sine scleroderma": "ORPHA:220407", "Semilobar holoprosencephaly": "ORPHA:220386", "Hyperlysinemia": "ORPHA:2203", "Hyperlysinemia type I": "ORPHA:2203", "Lysine alpha-ketoglutarate reductase deficiency": "ORPHA:2203", "Diffuse cutaneous systemic sclerosis": "ORPHA:220393", "Diffuse cutaneous systemic scleroderma": "ORPHA:220393", "Progressive cutaneous systemic scleroderma": "ORPHA:220393", "Progressive cutaneous systemic sclerosis": "ORPHA:220393", "Congenital intrinsic factor deficiency": "ORPHA:332", "Congenital pernicious anemia": "ORPHA:332", "Gastric intrinsic factor deficiency": "ORPHA:332", "Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency": "ORPHA:332", "IFD": "ORPHA:332", "Intrinsic factor deficiency": "ORPHA:332", "Macrothrombocytopenia with mitral valve insufficiency": "ORPHA:220448", "Transcobalamin I deficiency": "ORPHA:2967", "Haptocorrin deficiency": "ORPHA:2967", "TCI deficiency": "ORPHA:2967", "Transcobalamin-1 deficiency": "ORPHA:2967", "Isolated hereditary giant platelet disorder": "ORPHA:220452", "Isolated hereditary macrothrombocytopenia": "ORPHA:220452", "Isolated inherited giant platelet disorder": "ORPHA:220452", "Isolated inherited macrothrombocytopenia": "ORPHA:220452", "Quebec platelet disorder": "ORPHA:220436", "Factor V Quebec": "ORPHA:220436", "Homocarnosinosis": "ORPHA:2168", "Homocarnosinase deficiency": "ORPHA:2168", "Dicarboxylic aminoaciduria": "ORPHA:2195", "Glutamate-aspartate transport defect": "ORPHA:2195", "Bleeding diathesis due to thromboxane synthesis deficiency": "ORPHA:220443", "Rare cardiac rhythm disease": "ORPHA:218436", "Non-genetic cardiac rhythm disease": "ORPHA:218439", "OBSOLETE: Familial restrictive cardiomyopathy type 3": "ORPHA:218432", "OBSOLETE: RCM3": "ORPHA:218432", "Methylcobalamin deficiency type cblG": "ORPHA:2170", "Functional methionine synthase deficiency type cblG": "ORPHA:2170", "Xeroderma pigmentosum-Cockayne syndrome complex": "ORPHA:220295", "XP/CS complex": "ORPHA:220295", "Gyrate atrophy of choroid and retina": "ORPHA:414", "HOGA": "ORPHA:414", "Hyperornithinemia": "ORPHA:414", "Hyperornithinemia-gyrate atrophy of choroid and retina syndrome": "ORPHA:414", "Ornithine aminotransferase deficiency": "ORPHA:414", "Homocystinuria without methylmalonic aciduria": "ORPHA:622", "Functional methionine synthase deficiency": "ORPHA:622", "Methylcobalamin deficiency": "ORPHA:622", "Hyperammonemia due to N-acetylglutamate synthase deficiency": "ORPHA:927", "NAGS deficiency": "ORPHA:927", "Transient tyrosinemia of the newborn": "ORPHA:3402", "Transient tyrosinemia of the neonate": "ORPHA:3402", "Pipecolic acidemia": "ORPHA:34", "Hyperpipecolatemia": "ORPHA:34", "Phosphoenolpyruvate carboxykinase deficiency": "ORPHA:2880", "PEPCK deficiency": "ORPHA:2880", "D-glyceric aciduria": "ORPHA:941", "D-glycerate kinase deficiency": "ORPHA:941", "D-glyceric acidemia": "ORPHA:941", "Laron syndrome with immunodeficiency": "ORPHA:220465", "Laron-like syndrome": "ORPHA:220465", "Short stature due to STAT5b deficiency": "ORPHA:220465", "Attenuated familial adenomatous polyposis": "ORPHA:220460", "AFAP": "ORPHA:220460", "Attenuated FAP": "ORPHA:220460", "Attenuated familial polyposis coli": "ORPHA:220460", "Rare hereditary hemochromatosis": "ORPHA:220489", "Iron overload disease": "ORPHA:220489", "2-hydroxyglutaric aciduria": "ORPHA:19", "2-hydroxyglutaric acidemia": "ORPHA:19", "Pentosuria": "ORPHA:2843", "Essential pentosuria": "ORPHA:2843", "Xylitol dehydrogenase deficiency": "ORPHA:2843", "Joubert syndrome with renal defect": "ORPHA:220497", "JS-R": "ORPHA:220497", "Cystathioninuria": "ORPHA:212", "Cystathionase deficiency": "ORPHA:212", "Cystathionine gamma-lyase deficiency syndrome": "ORPHA:212", "Gamma-cystathionase deficiency": "ORPHA:212", "Joubert syndrome with ocular defect": "ORPHA:220493", "JS-O": "ORPHA:220493", "Joubert syndrome with retinopathy": "ORPHA:220493", "Lysinuric protein intolerance": "ORPHA:470", "Hyperdibasic aminoaciduria": "ORPHA:470", "LPI": "ORPHA:470", "OBSOLETE: Hyperdibasic aminoaciduria type 1": "ORPHA:1032", "Marchiafava-Bignami disease": "ORPHA:221074", "MBD": "ORPHA:221074", "Combined hyperactive dysfunction syndrome of the cranial nerves": "ORPHA:221078", "Hereditary breast and/or ovarian cancer syndrome": "ORPHA:145", "Prolactinoma": "ORPHA:2965", "Lactotroph adenoma": "ORPHA:2965", "PRL-secreting pituitary adenoma": "ORPHA:2965", "PRLoma": "ORPHA:2965", "Pituitary lactotrophic adenoma": "ORPHA:2965", "Prolactin-secreting pituitary adenoma": "ORPHA:2965", "Hemifacial spasm": "ORPHA:221083", "Facial hemispasm": "ORPHA:221083", "Focal myoclonus of face": "ORPHA:221083", "Trigeminal neuralgia": "ORPHA:221091", "Lymphangioleiomyomatosis": "ORPHA:538", "LAM": "ORPHA:538", "Glossopharyngeal neuralgia": "ORPHA:221098", "Postpoliomyelitis syndrome": "ORPHA:2942", "Postpolio sequelae": "ORPHA:2942", "Postpolio syndrome": "ORPHA:2942", "Postpoliomyelitic syndrome": "ORPHA:2942", "Postpoliomyelitis sequelae": "ORPHA:2942", "OBSOLETE: Isolated facial myokymia": "ORPHA:221106", "Pterin-4 alpha-carbinolamine dehydratase deficiency": "ORPHA:1578", "Hyperphenylalaninemia due to dehydratase deficiency": "ORPHA:1578", "Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency": "ORPHA:1578", "Hyperphenylalaninemia with primapterinuria": "ORPHA:1578", "Cranial neuralgia": "ORPHA:221109", "Facial neuralgia": "ORPHA:221109", "Acquired peripheral movement disorder": "ORPHA:221114", "Isolated succinate-CoQ reductase deficiency": "ORPHA:3208", "Isolated mitochondrial respiratory chain complex II deficiency": "ORPHA:3208", "Isolated succinate dehydrogenase deficiency": "ORPHA:3208", "Isolated succinate-coenzyme Q reductase deficiency": "ORPHA:3208", "Isolated succinate-ubiquinone reductase deficiency": "ORPHA:3208", "Rothmund-Thomson syndrome type 1": "ORPHA:221008", "Poikiloderma of Rothmund-Thomson type 1": "ORPHA:221008", "RTS1": "ORPHA:221008", "Fumaric aciduria": "ORPHA:24", "Fumarase deficiency": "ORPHA:24", "Rothmund-Thomson syndrome type 2": "ORPHA:221016", "Poikiloderma of Rothmund-Thomson type 2": "ORPHA:221016", "RTS2": "ORPHA:221016", "Fatal infantile cytochrome C oxidase deficiency": "ORPHA:1561", "Fatal infantile COX deficiency": "ORPHA:1561", "Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency": "ORPHA:1561", "Hereditary sclerosing poikiloderma, Weary type": "ORPHA:221039", "Isolated complex III deficiency": "ORPHA:1460", "Isolated CoQ-cytochrome C reductase deficiency": "ORPHA:1460", "Isolated coenzyme Q-cytochrome C reductase deficiency": "ORPHA:1460", "Isolated mitochondrial respiratory chain complex III deficiency": "ORPHA:1460", "Isolated ubiquinone-cytochrome C reductase deficiency": "ORPHA:1460", "Paris-Trousseau thrombocytopenia": "ORPHA:851", "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome": "ORPHA:221043", "POIKTMP syndrome": "ORPHA:221043", "Poikiloderma with neutropenia": "ORPHA:221046", "Poikiloderma with neutropenia, Clericuzio type": "ORPHA:221046", "OBSOLETE: Anemia due to adenosine triphosphatase deficiency": "ORPHA:1044", "Severe hereditary thrombophilia due to congenital protein C deficiency": "ORPHA:745", "Autosomal recessive thrombophilia due to PC deficiency": "ORPHA:745", "Autosomal recessive thrombophilia due to congenital protein C deficiency": "ORPHA:745", "Acrocephalopolydactyly": "ORPHA:221054", "Acrocephalopolydactylous dysplasia": "ORPHA:221054", "Elejalde acrocephalopolydactyly": "ORPHA:221054", "Familial cerebral cavernous malformation": "ORPHA:221061", "Familial brain cavernous angioma": "ORPHA:221061", "Familial cerebral cavernoma": "ORPHA:221061", "Hereditary brain cavernous angioma": "ORPHA:221061", "Hereditary cerebral cavernoma": "ORPHA:221061", "Hereditary cerebral cavernous malformation": "ORPHA:221061", "Glanzmann thrombasthenia": "ORPHA:849", "Familial infantile bilateral striatal necrosis": "ORPHA:225154", "Familial IBSN": "ORPHA:225154", "Familial infantile striatonigral degeneration": "ORPHA:225154", "Familial infantile striatonigral necrosis": "ORPHA:225154", "TFR2-related hemochromatosis": "ORPHA:225123", "Hereditary hemochromatosis type 3": "ORPHA:225123", "Sporadic infantile bilateral striatal necrosis": "ORPHA:225147", "ABSN": "ORPHA:225147", "Acute bilateral striatal necrosis": "ORPHA:225147", "Sporadic IBSN": "ORPHA:225147", "Sporadic infantile striatonigral degeneration": "ORPHA:225147", "Sporadic infantile striatonigral necrosis": "ORPHA:225147", "Hereditary poikiloderma": "ORPHA:222628", "Mitochondrial oxidative phosphorylation disorder": "ORPHA:223713", "OXPHOS disease": "ORPHA:223713", "Lymphoma": "ORPHA:223735", "Bone sarcoma": "ORPHA:223727", "Gerstmann syndrome": "ORPHA:221117", "Pseudoaminopterin syndrome": "ORPHA:221120", "ASSA": "ORPHA:221120", "Aminopterin syndrome-like sine aminopterin": "ORPHA:221120", "Fowler vasculopathy": "ORPHA:221126", "Cerebral proliferative glomeruloid vasculopathy": "ORPHA:221126", "Encephaloclastic proliferative vasculopathy": "ORPHA:221126", "Hydrocephaly/hydranencephaly due to cerebral vasculopathy": "ORPHA:221126", "Proliferative vasculopathy and hydranencephaly/hydrocephaly": "ORPHA:221126", "Combined immunodeficiency with facio-oculo-skeletal anomalies": "ORPHA:221139", "Roifman-Chitayat syndrome": "ORPHA:221139", "Confetti-like macular atrophy": "ORPHA:221142", "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies": "ORPHA:221145", "ARCL1C": "ORPHA:221145", "Autosomal recessive cutis laxa type 1C": "ORPHA:221145", "Urban-Rifkin-Davis syndrome": "ORPHA:221145", "OBSOLETE: Pitt-Hopkins-like syndrome": "ORPHA:221150", "Severe combined immunodeficiency due to CORO1A deficiency": "ORPHA:228003", "SCID due to CORO1A deficiency": "ORPHA:228003", "SCID due to coronin-1A deficiency": "ORPHA:228003", "Severe combined immunodeficiency due to coronin-1A deficiency": "ORPHA:228003", "Thymic epithelial neoplasm": "ORPHA:3398", "TEN": "ORPHA:3398", "Thymic epithelial tumor": "ORPHA:3398", "Idiopathic CD4 lymphocytopenia": "ORPHA:228000", "Non-Hodgkin lymphoma": "ORPHA:547", "NHL": "ORPHA:547", "Autoimmune polyendocrinopathy type 4": "ORPHA:227990", "APS type 4": "ORPHA:227990", "APS4": "ORPHA:227990", "Autoimmune polyendocrine syndrome type 4": "ORPHA:227990", "Autoimmune polyglandular syndrome type 4": "ORPHA:227990", "Testicular seminomatous germ cell tumor": "ORPHA:842", "Seminoma of testis": "ORPHA:842", "Seminomatous germ cell tumor of testis": "ORPHA:842", "Testicular seminoma": "ORPHA:842", "Autoimmune polyendocrinopathy type 3": "ORPHA:227982", "APS type 3": "ORPHA:227982", "APS3": "ORPHA:227982", "Autoimmune polyendocrine syndrome type 3": "ORPHA:227982", "Autoimmune polyglandular syndrome type 3": "ORPHA:227982", "Autosomal recessive optic atrophy, OPA7 type": "ORPHA:227976", "Yolk sac tumor": "ORPHA:876", "Endodermal sinus tumor": "ORPHA:876", "Toxic oil syndrome": "ORPHA:227972", "Extragonadal teratoma": "ORPHA:883", "Fundus albipunctatus": "ORPHA:227796", "Coccidioidomycosis": "ORPHA:228123", "California disease": "ORPHA:228123", "Coccidioides infection": "ORPHA:228123", "Desert fever": "ORPHA:228123", "Desert rheumatism": "ORPHA:228123", "San Joaquin valley fever": "ORPHA:228123", "Valley fever": "ORPHA:228123", "Fusariosis": "ORPHA:228119", "Fusarium infection": "ORPHA:228119", "Hughes-Stovin syndrome": "ORPHA:228116", "Anal fistula": "ORPHA:228113", "Germ cell tumor": "ORPHA:3399", "Langerhans cell histiocytosis": "ORPHA:389", "Histiocytosis X": "ORPHA:389", "Langerhans cell granulomatosis": "ORPHA:389", "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome": "ORPHA:228012", "Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome": "ORPHA:228012", "Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome": "ORPHA:228012", "Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome": "ORPHA:228012", "Medulloblastoma": "ORPHA:616", "Ependymal tumor": "ORPHA:301", "Primary cutaneous CD30+ T-cell lymphoproliferative disease": "ORPHA:541", "Primary cutaneous Ki-1+ T-cell lymphoproliferative disease": "ORPHA:541", "Burkitt lymphoma": "ORPHA:543", "Small non-cleaved cell lymphoma": "ORPHA:543", "Skeletal Ewing sarcoma": "ORPHA:319", "Osseous Ewing sarcoma": "ORPHA:319", "Hereditary breast cancer": "ORPHA:227535", "Familial breast cancer": "ORPHA:227535", "Familial breast carcinoma": "ORPHA:227535", "Hereditary breast carcinoma": "ORPHA:227535", "Osteosarcoma": "ORPHA:668", "Osteogenic sarcoma": "ORPHA:668", "OBSOLETE: Familial flecked retinopathy": "ORPHA:227786", "OBSOLETE: Hereditary flecked retinopathy": "ORPHA:227786", "Multiple system atrophy, cerebellar type": "ORPHA:227510", "MSA, cerebellar type": "ORPHA:227510", "MSA-c": "ORPHA:227510", "Sporadic OPCA type 1": "ORPHA:227510", "Sporadic olivopontocerebellar atrophy type 1": "ORPHA:227510", "Astrocytoma": "ORPHA:94", "Astrocytic tumor": "ORPHA:94", "Glioblastoma": "ORPHA:360", "GBM": "ORPHA:360", "Glioblastoma multiforme": "ORPHA:360", "Permanent congenital hypothyroidism": "ORPHA:226292", "Acute lymphoblastic leukemia": "ORPHA:513", "ALL": "ORPHA:513", "Acute lymphoblastic leukemia/lymphoma": "ORPHA:513", "Acute lymphocytic leukemia": "ORPHA:513", "Precursor lymphoid neoplasm": "ORPHA:513", "Esthesioneuroblastoma": "ORPHA:1957", "Olfactory neuroblastoma": "ORPHA:1957", "Central congenital hypothyroidism": "ORPHA:226298", "Secondary hypothyroidism": "ORPHA:226298", "Fibrosarcoma": "ORPHA:2030", "Solitary fibrous tumor": "ORPHA:2126", "SFT": "ORPHA:2126", "Primary congenital hypothyroidism": "ORPHA:226295", "Pseudoxanthoma elasticum": "ORPHA:758", "Gronblad-Strandberg-Touraine syndrome": "ORPHA:758", "PXE": "ORPHA:758", "Hyperprolinemia type 1": "ORPHA:419", "Proline oxidase deficiency": "ORPHA:419", "Adrenocortical carcinoma": "ORPHA:1501", "ACC": "ORPHA:1501", "Genetic transient congenital hypothyroidism": "ORPHA:226316", "OBSOLETE: Neuroepithelioma": "ORPHA:2677", "Hypothyroidism due to deficient transcription factors involved in pituitary development or function": "ORPHA:226307", "Malignant peripheral nerve sheath tumor": "ORPHA:3148", "MPNST": "ORPHA:3148", "Malignant neurilemmoma": "ORPHA:3148", "Malignant neurofibroma": "ORPHA:3148", "Malignant schwannoma": "ORPHA:3148", "Neurofibrosarcoma": "ORPHA:3148", "Neurogenic sarcoma": "ORPHA:3148", "Synovial sarcoma": "ORPHA:3273", "Synovialosarcoma": "ORPHA:3273", "Congenital hypothyroidism due to maternal intake of antithyroid drugs": "ORPHA:226313", "OBSOLETE: Peripheral hypothyroidism": "ORPHA:226310", "Classic Hodgkin lymphoma": "ORPHA:391", "Classic Hodgkin disease": "ORPHA:391", "Oligomeganephronia": "ORPHA:2260", "Oligomeganephronic renal hypoplasia": "ORPHA:2260", "Amino acid or protein metabolism disease with epilepsy": "ORPHA:225689", "Metal transport or utilization disorder with epilepsy": "ORPHA:225692", "Larsen syndrome": "ORPHA:503", "Dent disease": "ORPHA:1652", "Dent syndrome": "ORPHA:1652", "Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis": "ORPHA:1652", "Renal Fanconi syndrome with nephrocalcinosis and renal stones": "ORPHA:1652", "X-linked recessive hypercalciuric hypophosphatemic rickets": "ORPHA:1652", "X-linked recessive nephrolithiasis": "ORPHA:1652", "Energy metabolism disorder with epilepsy": "ORPHA:225696", "Mitochondrial disease with epilepsy": "ORPHA:225700", "Isolated microphthalmia-anophthalmia-coloboma": "ORPHA:2542", "Isolated anophthalmia-microphthalmia syndrome": "ORPHA:2542", "Syringomyelia": "ORPHA:3280", "Megalencephalic leukoencephalopathy with subcortical cysts": "ORPHA:2478", "MLC": "ORPHA:2478", "Megalencephalic leukodystrophy": "ORPHA:2478", "Megalencephaly-cystic leukodystrophy syndrome": "ORPHA:2478", "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts": "ORPHA:2478", "Van der Knaap syndrome": "ORPHA:2478", "Lysosomal disease with epilepsy": "ORPHA:225681", "Peroxisomal disease with epilepsy": "ORPHA:225686", "OBSOLETE: Inherited predisposition to essential thrombocythemia": "ORPHA:225968", "OBSOLETE: Familial essential thrombocythemia": "ORPHA:225968", "Primary Fanconi renotubular syndrome": "ORPHA:3337", "DeToni-Debr\u00e9-Fanconi syndrome": "ORPHA:3337", "Primary Fanconi renal syndrome": "ORPHA:3337", "Arginine vasopressin resistance": "ORPHA:223", "Nephrogenic diabetes insipidus": "ORPHA:223", "Mitochondrial disease with peripheral neuropathy": "ORPHA:225703", "Metabolic neurotransmission anomaly with epilepsy": "ORPHA:225707", "Sterol metabolism disorder with epilepsy": "ORPHA:225710", "Pseudohypoaldosteronism type 2": "ORPHA:757", "Chloride shunt syndrome": "ORPHA:757", "Familial hyperkalemic hypertension": "ORPHA:757", "Gordon hyperkalemia-hypertension syndrome": "ORPHA:757", "Hyperkalemia-hypertension syndrome, Gordon type": "ORPHA:757", "Hypertensive hyperkalemia": "ORPHA:757", "Mineralocorticoid resistant hyperkalemia": "ORPHA:757", "PHA2": "ORPHA:757", "PHAII": "ORPHA:757", "Spitzer-Weinstein syndrome": "ORPHA:757", "Other metabolic disease with epilepsy": "ORPHA:225713", "OBSOLETE: Microcephaly-seizures-developmental delay syndrome": "ORPHA:228418", "OBSOLETE: MCSZ": "ORPHA:228418", "GATA2 deficiency spectrum": "ORPHA:228423", "GATA binding protein 2 deficiency spectrum": "ORPHA:228423", "Chronic myeloid leukemia": "ORPHA:521", "CML": "ORPHA:521", "Chronic granulocytic leukemia": "ORPHA:521", "Chronic myelogenous leukemia": "ORPHA:521", "5q35 microduplication syndrome": "ORPHA:228415", "Dup(5)(q35)": "ORPHA:228415", "Trisomy 5q35": "ORPHA:228415", "Hereditary butyrylcholinesterase deficiency": "ORPHA:132", "Hereditary pseudocholinesterase deficiency": "ORPHA:132", "Autosomal recessive cerebellar ataxia": "ORPHA:1172", "ARCA": "ORPHA:1172", "Isolated agammaglobulinemia": "ORPHA:229717", "Isolated hypogammaglobulinemia": "ORPHA:229717", "Syndromic agammaglobulinemia": "ORPHA:229720", "Syndromic multisystem autoimmune disease due to Itch deficiency": "ORPHA:228426", "Isolated Klippel-Feil syndrome": "ORPHA:2345", "Congenital cervical vertebral fusion": "ORPHA:2345", "Congenital fused cervical segments": "ORPHA:2345", "Klippel-Feil malformation": "ORPHA:2345", "Klippel-Feil sequence": "ORPHA:2345", "Familial pancreatic carcinoma": "ORPHA:1333", "Familial pancreatic cancer": "ORPHA:1333", "Generalized congenital lipodystrophy with myopathy": "ORPHA:228429", "GCL4": "ORPHA:228429", "Generalized congenital lipodystrophy type 4": "ORPHA:228429", "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome": "ORPHA:228396", "NON RARE IN EUROPE: Familial otosclerosis": "ORPHA:2794", "Spondylo-megaepiphyseal-metaphyseal dysplasia": "ORPHA:228387", "Frontonasal dysplasia-alopecia-genital anomalies syndrome": "ORPHA:228390", "ALX4-related FNDAG": "ORPHA:228390", "Craniofrontonasal dysplasia with alopecia and hypogonadism": "ORPHA:228390", "Frontonasal dysplasia type 2": "ORPHA:228390", "Frontonasal dysplasia with alopecia and genital abnomality": "ORPHA:228390", "Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome": "ORPHA:228407", "TMCO1 defect syndrome": "ORPHA:228407", "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome": "ORPHA:228410", "PHD syndrome": "ORPHA:228410", "Polyvalvular heart disease syndrome": "ORPHA:228410", "TAB2-related syndrome": "ORPHA:228410", "8q12 microduplication syndrome": "ORPHA:228399", "Dup(8)(q12)": "ORPHA:228399", "Trisomy 8q12": "ORPHA:228399", "Osteopetrosis and related disorders": "ORPHA:2781", "2q23.1 microdeletion syndrome": "ORPHA:228402", "Del(2)(q23.1)": "ORPHA:228402", "Monosomy 2q23.1": "ORPHA:228402", "Pseudo-Angelman syndrome": "ORPHA:228402", "CLN7 disease": "ORPHA:228366", "Neuronal ceroid lipofuscinosis type 7": "ORPHA:228366", "Turkish variant late infantile": "ORPHA:228366", "vLINCL": "ORPHA:228363", "CLN6 disease": "ORPHA:228363", "Neuronal ceroid lipofuscinosis type 6": "ORPHA:228363", "CLN5 disease": "ORPHA:228360", "Neuronal ceroid lipofuscinosis type 5": "ORPHA:228360", "OBSOLETE: CLN9 disease": "ORPHA:228357", "5q14.3 microdeletion syndrome": "ORPHA:228384", "Del(5)(q14.3)": "ORPHA:228384", "Monosomy 5q14.3": "ORPHA:228384", "Virus-associated trichodysplasia spinulosa": "ORPHA:228379", "Cyclosporine-induced folliculodystrophy": "ORPHA:228379", "Pilomatrix dysplasia": "ORPHA:228379", "TS": "ORPHA:228379", "Trichodysplasia spinulosa": "ORPHA:228379", "VATS": "ORPHA:228379", "Charcot-Marie-Tooth disease type 2B5": "ORPHA:228374", "AR-CMT2B5": "ORPHA:228374", "Autosomal recessive Charcot-Marie-Tooth disease type 2B5": "ORPHA:228374", "SEOAN due to NEFL deficiency": "ORPHA:228374", "Severe early-onset axonal neuropathy due to NEFL deficiency": "ORPHA:228374", "Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency": "ORPHA:228374", "Foodborne botulism": "ORPHA:228371", "Intoxication botulism": "ORPHA:228371", "OBSOLETE: CLN4A disease": "ORPHA:228340", "CLN10 disease": "ORPHA:228337", "CNCL": "ORPHA:228337", "Neuronal ceroid lipofuscinosis type 10": "ORPHA:228337", "CLN1 disease": "ORPHA:228329", "Haltia-Santavuori disease": "ORPHA:228329", "Neuronal ceroid lipofuscinosis type 1": "ORPHA:228329", "OBSOLETE: Idiopathic hypersomnia without long sleep time": "ORPHA:228318", "CLN8 disease": "ORPHA:228354", "Neuronal ceroid lipofuscinosis type 8": "ORPHA:228354", "CLN2 disease": "ORPHA:228349", "Neuronal ceroid lipofuscinosis type 2": "ORPHA:228349", "CLN3 disease": "ORPHA:228346", "Batten-Spielmeyer-Vogt-Sj\u00f6gren disease": "ORPHA:228346", "Classic juvenile NCL": "ORPHA:228346", "Classic juvenile neuronal ceroid lipofuscinosis": "ORPHA:228346", "Neuronal ceroid lipofuscinosis type 3": "ORPHA:228346", "CLN4 disease": "ORPHA:228343", "CLN4B disease": "ORPHA:228343", "Neuronal ceroid lipofuscinosis type 4": "ORPHA:228343", "White fibrous papulosis of the neck": "ORPHA:228290", "Pseudoxanthoma elasticum-like papillary dermal elastolysis": "ORPHA:228293", "PXE-like papillary dermal elastolysis": "ORPHA:228293", "Mid-dermal elastolysis": "ORPHA:228299", "Carnitine palmitoyl transferase II deficiency, myopathic form": "ORPHA:228302", "CPT2, adult-onset form": "ORPHA:228302", "CPT2, myopathic form": "ORPHA:228302", "CPTII, adult-onset form": "ORPHA:228302", "CPTII, myopathic form": "ORPHA:228302", "Carnitine palmitoyl transferase II deficiency, adult-onset form": "ORPHA:228302", "Carnitine palmitoyl transferase deficiency type 2, adult-onset form": "ORPHA:228302", "Carnitine palmitoyl transferase deficiency type 2, myopathic form": "ORPHA:228302", "Carnitine palmitoyl transferase II deficiency, severe infantile form": "ORPHA:228305", "CPT2, hepatocardiomuscular form": "ORPHA:228305", "CPT2, severe infantile form": "ORPHA:228305", "CPTII, hepatocardiomuscular form": "ORPHA:228305", "CPTII, severe infantile form": "ORPHA:228305", "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form": "ORPHA:228305", "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form": "ORPHA:228305", "Carnitine palmitoyl transferase deficiency type 2, severe infantile form": "ORPHA:228305", "Carnitine palmitoyl transferase II deficiency, neonatal form": "ORPHA:228308", "CPT2, lethal systemic form": "ORPHA:228308", "CPT2, neonatal form": "ORPHA:228308", "CPTII, lethal systemic form": "ORPHA:228308", "CPTII, neonatal form": "ORPHA:228308", "Carnitine palmitoyl transferase II deficiency, lethal systemic form": "ORPHA:228308", "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form": "ORPHA:228308", "Carnitine palmitoyl transferase deficiency type 2, neonatal form": "ORPHA:228308", "Autoimmune hemolytic anemia, cold type": "ORPHA:228312", "Cold AIHA": "ORPHA:228312", "cAHA": "ORPHA:228312", "cAIHA": "ORPHA:228312", "OBSOLETE: Idiopathic hypersomnia with long sleep time": "ORPHA:228315", "Elastoderma": "ORPHA:228240", "CACH syndrome": "ORPHA:135", "Childhood ataxia with diffuse central nervous system hypomyelination": "ORPHA:135", "Leukoencephalopathy with vanishing white matter": "ORPHA:135", "Myelinosis centralis diffusa": "ORPHA:135", "Elastofibroma dorsi": "ORPHA:228243", "Acquired pseudoxanthoma elasticum": "ORPHA:228247", "Acquired Gronblad-Strandberg-Touraine syndrome": "ORPHA:228247", "Acquired PXE": "ORPHA:228247", "Elastoma": "ORPHA:228254", "Juvenile elastoma without osteopoikilosis": "ORPHA:228254", "Nevus elasticus": "ORPHA:228254", "Weidman juvenile elastoma": "ORPHA:228254", "Papular elastorrhexis": "ORPHA:228264", "Primary anetoderma": "ORPHA:228272", "Primary macular atrophy": "ORPHA:228272", "Familial anetoderma": "ORPHA:228277", "Hereditary anetoderma": "ORPHA:228277", "Hereditary macular atrophy": "ORPHA:228277", "Acquired cutis laxa": "ORPHA:228285", "Cutis laxa acquisita": "ORPHA:228285", "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome": "ORPHA:228190", "Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome": "ORPHA:228190", "Overhydrated hereditary stomatocytosis": "ORPHA:3203", "Dehydrated hereditary stomatocytosis": "ORPHA:3202", "Hereditary xerocytosis": "ORPHA:3202", "Acquired dermis elastic tissue disorder": "ORPHA:228218", "Genetic dermis elastic tissue disorder": "ORPHA:228215", "Acquired dermis elastic tissue disorder with increased elastic tissue": "ORPHA:228224", "Acquired dermis elastic tissue disorder with decreased elastic tissue": "ORPHA:228221", "Benign focal seizures of adolescence": "ORPHA:1544", "Adolescent benign focal crisis": "ORPHA:1544", "Linear focal elastosis": "ORPHA:228236", "Elastotic striae": "ORPHA:228236", "Linear focal dermal elastosis": "ORPHA:228236", "Late-onset focal dermal elastosis": "ORPHA:228227", "PXE-like late-onset focal dermal elastosis": "ORPHA:228227", "Pseudoxanthoma-like late-onset focal dermal elastosis": "ORPHA:228227", "Multiple sclerosis variant": "ORPHA:228145", "Idiopathic ventricular fibrillation, non Brugada type": "ORPHA:228140", "Familial paroxysmal ventricular fibrillation, non Brugada type": "ORPHA:228140", "X-linked Alport syndrome-diffuse leiomyomatosis": "ORPHA:1018", "Xq22.3 microdeletion syndrome": "ORPHA:1018", "Bal\u00f3 concentric sclerosis": "ORPHA:228165", "Concentric demyelination": "ORPHA:228165", "Self-limited infantile epilepsy": "ORPHA:306", "BFIE": "ORPHA:306", "BFIS": "ORPHA:306", "Benign familial infantile convulsions": "ORPHA:306", "Benign familial infantile epilepsy": "ORPHA:306", "Benign familial infantile seizures": "ORPHA:306", "SeLIE": "ORPHA:306", "Marburg acute multiple sclerosis": "ORPHA:228157", "Acute multiple sclerosis, Marburg type": "ORPHA:228157", "Acute multiple sclerosis, Marburg variant": "ORPHA:228157", "Congenital factor X deficiency": "ORPHA:328", "Congenital Stuart factor deficiency": "ORPHA:328", "Stuart-Prower factor deficiency": "ORPHA:328", "Autosomal dominant Charcot-Marie-Tooth disease type 2N": "ORPHA:228174", "CMT2N": "ORPHA:228174", "Autosomal dominant striatal neurodegeneration": "ORPHA:228169", "ADSD": "ORPHA:228169", "Hemoglobin C disease": "ORPHA:2132", "Hemoglobin E disease": "ORPHA:2133", "Heart-hand syndrome": "ORPHA:228184", "Atriodigital dysplasia": "ORPHA:228184", "Autosomal dominant Charcot-Marie-Tooth disease type 2M": "ORPHA:228179", "CMT2M": "ORPHA:228179", "Hereditary elliptocytosis": "ORPHA:288", "HE": "ORPHA:288", "NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency": "ORPHA:751", "Hermansky-Pudlak syndrome due to BLOC-1 deficiency": "ORPHA:231531", "Hermansky-Pudlak syndrome type 8": "ORPHA:231537", "HPS8": "ORPHA:231537", "Hermansky-Pudlak syndrome due to BLOC-2 deficiency": "ORPHA:231512", "HPS without pulmonary fibrosis": "ORPHA:231512", "Hermansky-Pudlak syndrome without pulmonary fibrosis": "ORPHA:231512", "Idiopathic camptocormia": "ORPHA:1320", "Idiopathic camptocormism": "ORPHA:1320", "Idiopathic progressive lumbar kyphosis": "ORPHA:1320", "Early-onset generalized limb-onset dystonia": "ORPHA:256", "Dystonia musculorum deformans": "ORPHA:256", "EOTD": "ORPHA:256", "Early-onset generalized torsion dystonia": "ORPHA:256", "Early-onset isolated dystonia": "ORPHA:256", "Early-onset primary dystonia": "ORPHA:256", "Early-onset torsion dystonia": "ORPHA:256", "Idiopathic torsion dystonia": "ORPHA:256", "Oppenheim dystonia": "ORPHA:256", "Hermansky-Pudlak syndrome due to BLOC-3 deficiency": "ORPHA:231500", "HPS with pulmonary fibrosis": "ORPHA:231500", "Hermansky-Pudlak syndrome with pulmonary fibrosis": "ORPHA:231500", "Pure autonomic failure": "ORPHA:441", "Bradbury-Eggleston syndrome": "ORPHA:441", "Idiopathic orthostatic hypotension": "ORPHA:441", "PAF": "ORPHA:441", "Pure dysautonomia": "ORPHA:441", "Pure idiopatic dysautonomia": "ORPHA:441", "Acute pandysautonomia": "ORPHA:231457", "Acute panautonomic GBS": "ORPHA:231457", "Acute panautonomic Guillain-Barr\u00e9 syndrome": "ORPHA:231457", "Acute panautonomic neuropathy": "ORPHA:231457", "Acute sensory ataxic neuropathy": "ORPHA:231466", "ASAN": "ORPHA:231466", "Acute sensory ataxic GBS": "ORPHA:231466", "Acute sensory ataxic Guillain-Barr\u00e9 syndrome": "ORPHA:231466", "Infantile bilateral striatal necrosis": "ORPHA:1576", "IBSN": "ORPHA:1576", "Infantile striatonigral degeneration": "ORPHA:1576", "Infantile striatonigral necrosis": "ORPHA:1576", "Paraparetic variant of Guillain-Barr\u00e9 syndrome": "ORPHA:231445", "Paraparetic variant of GBS": "ORPHA:231445", "Acute pure sensory neuropathy": "ORPHA:231450", "Acute pure sensory GBS": "ORPHA:231450", "Acute pure sensory Guillain-Barr\u00e9 syndrome": "ORPHA:231450", "Narcolepsy type 1": "ORPHA:2073", "G\u00e9lineau disease": "ORPHA:2073", "Hypocretin/orexin deficiency syndrome": "ORPHA:2073", "Narcolepsy-cataplexy": "ORPHA:2073", "Pharyngeal-cervical-brachial variant of Guillain-Barr\u00e9 syndrome": "ORPHA:231426", "PCB variant of GBS": "ORPHA:231426", "PCB variant of Guillain-Barr\u00e9 syndrome": "ORPHA:231426", "Pharyngeal-cervical-brachial weakness": "ORPHA:231426", "Pharyngo-cervico-brachial variant of GBS": "ORPHA:231426", "Pharyngo-cervico-brachial variant of Guillain-Barr\u00e9 syndrome": "ORPHA:231426", "Regional variant of Guillain-Barr\u00e9 syndrome": "ORPHA:231416", "Regional variant of GBS": "ORPHA:231416", "Functional variant of Guillain-Barr\u00e9 syndrome": "ORPHA:231419", "Functional variant of GBS": "ORPHA:231419", "Alpha-thalassemia-myelodysplastic syndrome": "ORPHA:231401", "ATMDS": "ORPHA:231401", "Acquired HbH disease": "ORPHA:231401", "Acquired hemoglobin H disease": "ORPHA:231401", "Variant of Guillain-Barr\u00e9 syndrome": "ORPHA:231413", "Variant of GBS": "ORPHA:231413", "Focal, segmental or multifocal dystonia": "ORPHA:1866", "Linear verrucous nevus syndrome": "ORPHA:2611", "Linear hamartoma syndrome": "ORPHA:2611", "Beta-thalassemia-X-linked thrombocytopenia syndrome": "ORPHA:231393", "XLTT": "ORPHA:231393", "Mixed connective tissue disease": "ORPHA:809", "MCTD": "ORPHA:809", "Sharp syndrome": "ORPHA:809", "Beta-thalassemia with other manifestations": "ORPHA:231386", "Beta-thalassemia-trichothiodystrophy syndrome": "ORPHA:231256", "Medullary sponge kidney": "ORPHA:1309", "Cacchi-Ricci disease": "ORPHA:1309", "MSK": "ORPHA:1309", "Precalicial canalicular ectasia": "ORPHA:1309", "Hemoglobin E-beta-thalassemia syndrome": "ORPHA:231249", "E-beta-thalassemia": "ORPHA:231249", "HbE-beta-thalassemia syndrome": "ORPHA:231249", "Hemoglobin C-beta-thalassemia syndrome": "ORPHA:231242", "C-beta-thalassemia": "ORPHA:231242", "HbC-beta-thalassemia syndrome": "ORPHA:231242", "Idiopathic hypercalciuria": "ORPHA:2197", "Delta-beta-thalassemia": "ORPHA:231237", "Beta-thalassemia associated with another hemoglobin anomaly": "ORPHA:231230", "Beta-thalassemia associated with another Hb anomaly": "ORPHA:231230", "Dominant beta-thalassemia": "ORPHA:231226", "Inclusion body beta-thalassemia": "ORPHA:231226", "Distal renal tubular acidosis": "ORPHA:18", "Classic RTA": "ORPHA:18", "Familial distal primary acidosis": "ORPHA:18", "Renal tubular acidosis type 1": "ORPHA:18", "dRTA": "ORPHA:18", "Beta-thalassemia intermedia": "ORPHA:231222", "Castleman disease": "ORPHA:160", "Angiofollicular ganglionic hyperplasia": "ORPHA:160", "Angiofollicular lymph hyperplasia": "ORPHA:160", "Beta-thalassemia major": "ORPHA:231214", "Cooley anemia": "ORPHA:231214", "Mediterranean anemia": "ORPHA:231214", "OBSOLETE: Common variable immunodeficiency without known genetic defect": "ORPHA:231205", "Hailey-Hailey disease": "ORPHA:2841", "Benign chronic familial pemphigus": "ORPHA:2841", "Usher syndrome type 3": "ORPHA:231183", "USH3": "ORPHA:231183", "Frasier syndrome": "ORPHA:347", "Usher syndrome type 2": "ORPHA:231178", "USH2": "ORPHA:231178", "Chronic diarrhea with villous atrophy": "ORPHA:1670", "Combined immunodeficiency due to partial RAG1 deficiency": "ORPHA:231154", "CID due to partial RAG1 deficiency": "ORPHA:231154", "CID with expansion of gamma delta T cells": "ORPHA:231154", "Combined immunodeficiency with expansion of gamma delta T cells": "ORPHA:231154", "Myopathy and diabetes mellitus": "ORPHA:2596", "Properdin deficiency": "ORPHA:2966", "Familial cerebral saccular aneurysm": "ORPHA:231160", "Familial berry aneurysm": "ORPHA:231160", "Familial intracranial saccular aneurysm": "ORPHA:231160", "Usher syndrome type 1": "ORPHA:231169", "USH1": "ORPHA:231169", "Silver-Russell syndrome due to 7p11.2p13 microduplication": "ORPHA:231137", "Silver-Russell syndrome due to 7p11.2-p13 microduplication": "ORPHA:231137", "Silver-Russell syndrome due to dup(7)(p11.2p13)": "ORPHA:231137", "Silver-Russell syndrome due to trisomy 7p11.2-p13": "ORPHA:231137", "Silver-Russell syndrome due to trisomy 7p11.2p13": "ORPHA:231137", "Silver-Russell syndrome due to an imprinting defect of 11p15": "ORPHA:231140", "Silver-Russell syndrome due to 11p15 microduplication": "ORPHA:231144", "OBSOLETE: Anti-HLA hyperimmunization": "ORPHA:2194", "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11": "ORPHA:231147", "UPD(11)mat": "ORPHA:231147", "Beckwith-Wiedemann syndrome due to CDKN1C mutation": "ORPHA:231120", "Beckwith-Wiedemann syndrome due to 11p15 microdeletion": "ORPHA:231127", "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion": "ORPHA:231130", "High-grade dysplasia in patients with Barrett esophagus": "ORPHA:231080", "Rhabdoid tumor predisposition syndrome": "ORPHA:231108", "RTPS": "ORPHA:231108", "Familial hypocalciuric hypercalcemia": "ORPHA:405", "FBH": "ORPHA:405", "FBHH": "ORPHA:405", "FHH": "ORPHA:405", "Familial benign hypercalcemia": "ORPHA:405", "Familial benign hypocalciuric hypercalcemia": "ORPHA:405", "Drug-induced lupus erythematosus": "ORPHA:231111", "DILE": "ORPHA:231111", "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15": "ORPHA:231117", "Balantidiasis": "ORPHA:1223", "Balantidiosis": "ORPHA:1223", "Ciliary dysentery": "ORPHA:1223", "Familial generalized lentiginosis": "ORPHA:231040", "Familial lentigines profusa": "ORPHA:231040", "Familial multiple lentigines syndrome without systemic involvement": "ORPHA:231040", "Essential thrombocythemia": "ORPHA:3318", "ET": "ORPHA:3318", "Essential thrombocytosis": "ORPHA:3318", "Ehlers-Danlos/osteogenesis imperfecta syndrome": "ORPHA:230857", "EDS/OI syndrome": "ORPHA:230857", "Cardiac-valvular Ehlers-Danlos syndrome": "ORPHA:230851", "Cardiac-valvular EDS": "ORPHA:230851", "cvEDS": "ORPHA:230851", "Erythema palmare hereditarium": "ORPHA:231031", "Lane disease": "ORPHA:231031", "Red palms disease": "ORPHA:231031", "Zollinger-Ellison syndrome": "ORPHA:913", "Gastrinoma": "ORPHA:913", "Congenital trigeminal anesthesia": "ORPHA:231013", "Toxin-mediated infectious botulism": "ORPHA:230800", "Toxin-mediated infective botulism": "ORPHA:230800", "Vascular-like classical Ehlers-Danlos syndrome": "ORPHA:230845", "COL1A1-cEDS": "ORPHA:230845", "Classic EDS-like with a propensity for arterial rupture": "ORPHA:230845", "Classical EDS due to COL1A1 p.(Arg312Cys)": "ORPHA:230845", "Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)": "ORPHA:230845", "Vascular-like classical EDS": "ORPHA:230845", "Hereditary thrombophilia due to congenital antithrombin deficiency": "ORPHA:82", "Hereditary thrombophilia due to congenital antithrombin 3 deficiency": "ORPHA:82", "Classical-like Ehlers-Danlos syndrome type 1": "ORPHA:230839", "Classical-like EDS type 1": "ORPHA:230839", "Ehlers-Danlos syndrome due to tenascin-X deficiency": "ORPHA:230839", "clEDS type 1": "ORPHA:230839", "OBSOLETE: Primary T cell immunodeficiency": "ORPHA:2284", "Acute myeloid leukemia": "ORPHA:519", "AML": "ORPHA:519", "Acute myelogenous leukemia": "ORPHA:519", "Rare genetic vascular disease": "ORPHA:233655", "OBSOLETE: Congenital vascular bone syndrome with limb overgrowth": "ORPHA:235835", "Congenital vascular bone syndrome": "ORPHA:235832", "Familial hyperaldosteronism": "ORPHA:235936", "FH": "ORPHA:235936", "OBSOLETE: Congenital vascular bone syndrome with limb shortening": "ORPHA:235838", "Infundibulo-neurohypophysitis": "ORPHA:238305", "AApoAII amyloidosis": "ORPHA:238269", "Apolipoprotein A-II amyloidosis": "ORPHA:238269", "Familial amyloid nephropathy due to apolipoprotein A-II variant": "ORPHA:238269", "Familial renal amyloidosis due to apolipoprotein A-II variant": "ORPHA:238269", "Hereditary amyloid nephropathy due to apolipoprotein A-II variant": "ORPHA:238269", "Hereditary renal amyloidosis due to apolipoprotein A-II variant": "ORPHA:238269", "15q11q13 microduplication syndrome": "ORPHA:238446", "15q11q13 duplication syndrome": "ORPHA:238446", "Dup(15)(q11q13)": "ORPHA:238446", "Trisomy 15q11q13": "ORPHA:238446", "Severe X-linked mitochondrial encephalomyopathy": "ORPHA:238329", "Mitochondrial encephalomyopathy due to COXPD6": "ORPHA:238329", "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6": "ORPHA:238329", "Congenital erosive and vesicular dermatosis": "ORPHA:231573", "CEVD": "ORPHA:231573", "Congenital erosive and vesicular dermatosis with reticulated supple scarring": "ORPHA:231573", "Primary unilateral adrenal hyperplasia": "ORPHA:231580", "PUAH": "ORPHA:231580", "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome": "ORPHA:231556", "Late-onset localized JEB-intellectual disability syndrome": "ORPHA:231556", "Autosomal dominant generalized dystrophic epidermolysis bullosa": "ORPHA:231568", "Generalized DDEB": "ORPHA:231568", "Ectopic aldosterone-producing tumor": "ORPHA:231632", "Extra-adrenal aldosterone-producing tumor": "ORPHA:231632", "Rare surgically correctable form of primary aldosteronism": "ORPHA:231637", "Adrenocortical carcinoma with pure aldosterone hypersecretion": "ORPHA:231625", "Pure APAC": "ORPHA:231625", "Pure aldosterone-producing adrenocortical carcinoma": "ORPHA:231625", "Pure aldosterone-secreting adrenocortical carcinoma": "ORPHA:231625", "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency": "ORPHA:1900", "Cutis hyperelastica": "ORPHA:1900", "EDS VIA": "ORPHA:1900", "Ehlers-Danlos syndrome type 6A": "ORPHA:1900", "Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency": "ORPHA:1900", "Lysyl hydroxylase-deficient EDS": "ORPHA:1900", "Ocular-scoliotic EDS": "ORPHA:1900", "kEDS-PLOD1": "ORPHA:1900", "Isolated growth hormone deficiency type IB": "ORPHA:231671", "Congenital IGHD type IB": "ORPHA:231671", "Congenital isolated GH deficiency type IB": "ORPHA:231671", "Congenital isolated growth hormone deficiency type IB": "ORPHA:231671", "Vascular Ehlers-Danlos syndrome": "ORPHA:286", "Arterial-ecchymotic EDS": "ORPHA:286", "EDS IV": "ORPHA:286", "Ehlers-Danlos syndrome type 4": "ORPHA:286", "Sack-Barabas syndrome": "ORPHA:286", "Vascular EDS": "ORPHA:286", "vEDS": "ORPHA:286", "Isolated growth hormone deficiency type II": "ORPHA:231679", "Congenital IGHD type II": "ORPHA:231679", "Congenital isolated GH deficiency type II": "ORPHA:231679", "Congenital isolated growth hormone deficiency type II": "ORPHA:231679", "Rare non surgically correctable form of primary aldosteronism": "ORPHA:231641", "Hypermobile Ehlers-Danlos syndrome": "ORPHA:285", "EDS III": "ORPHA:285", "EDS-HT": "ORPHA:285", "Ehlers-Danlos syndrome hypermobility type": "ORPHA:285", "Ehlers-Danlos syndrome type 3": "ORPHA:285", "Hypermobile EDS": "ORPHA:285", "hEDS": "ORPHA:285", "Isolated growth hormone deficiency type IA": "ORPHA:231662", "Congenital IGHD type IA": "ORPHA:231662", "Congenital isolated GH deficiency type IA": "ORPHA:231662", "Congenital isolated growth hormone deficiency type IA": "ORPHA:231662", "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome": "ORPHA:231736", "MPPC syndrome": "ORPHA:231736", "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome": "ORPHA:231742", "Epidermolysis bullosa simplex with muscular dystrophy": "ORPHA:257", "EBS with muscular dystrophy": "ORPHA:257", "EBS-MD": "ORPHA:257", "Limb-girdle muscular dystrophy with epidermolysis bullosa simplex": "ORPHA:257", "Dermatosparaxis Ehlers-Danlos syndrome": "ORPHA:1901", "Dermatosparaxis EDS": "ORPHA:1901", "Ehlers-Danlos syndrome type 7C": "ORPHA:1901", "Human dermatosparaxis EDS VIIC": "ORPHA:1901", "dEDS": "ORPHA:1901", "Isolated growth hormone deficiency type III": "ORPHA:231692", "Congenital IGHD type III": "ORPHA:231692", "Congenital isolated GH deficiency type III": "ORPHA:231692", "Congenital isolated growth hormone deficiency type III": "ORPHA:231692", "X-linked IGHD": "ORPHA:231692", "X-linked isolated growth hormone deficiency": "ORPHA:231692", "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome": "ORPHA:231720", "Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome": "ORPHA:231720", "Arthrochalasia Ehlers-Danlos syndrome": "ORPHA:1899", "Arthrochalasia EDS": "ORPHA:1899", "Arthrochalasis multiplex congenita": "ORPHA:1899", "EDS VII": "ORPHA:1899", "Ehlers-Danlos syndrome type 7": "ORPHA:1899", "Ehlers-Danlos syndrome, arthrochalasia type": "ORPHA:1899", "aEDS": "ORPHA:1899", "Congenital nephrotic syndrome, Finnish type": "ORPHA:839", "Finnish congenital nephrosis": "ORPHA:839", "Infectious embryofetopathy": "ORPHA:232035", "Miller-Dieker syndrome": "ORPHA:531", "Lissencephaly due to 17p13.3 deletion": "ORPHA:531", "Monosomy 17p13.3": "ORPHA:531", "Telomeric deletion 17p": "ORPHA:531", "Soft tissue sarcoma": "ORPHA:3394", "Malignant mesenchymal tumor": "ORPHA:3394", "Malignant soft tissue tumor": "ORPHA:3394", "Soft part sarcoma": "ORPHA:3394", "Isolated lissencephaly type 1 without known genetic defects": "ORPHA:1084", "Syndrome with alpha-thalassemia as a major feature": "ORPHA:232288", "Microlissencephaly": "ORPHA:1083", "X-linked lissencephaly with abnormal genitalia": "ORPHA:452", "X-linked lissencephaly with ambiguous genitalia": "ORPHA:452", "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome": "ORPHA:452", "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome": "ORPHA:452", "4q21 microdeletion syndrome": "ORPHA:238750", "Del(4)(q21)": "ORPHA:238750", "Monosomy 4q21": "ORPHA:238750", "OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H": "ORPHA:238755", "OBSOLETE: LGMD1H": "ORPHA:238755", "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea": "ORPHA:238763", "Megalocornea-spherophakia-secondary glaucoma syndrome": "ORPHA:238763", "Transient congenital hypothyroidism due to maternal factor": "ORPHA:238696", "Transient congenital hypothyroidism due to neonatal factor": "ORPHA:238699", "Familial congenital mirror movements": "ORPHA:238722", "Familial congenital controlateral synkinesia": "ORPHA:238722", "Hereditary congenital controlateral synkinesia": "ORPHA:238722", "Hereditary congenital mirror movements": "ORPHA:238722", "Isolated congenital controlateral synkinesia": "ORPHA:238722", "Isolated congenital mirror movements": "ORPHA:238722", "Mammary-digital-nail syndrome": "ORPHA:238744", "MDN syndrome": "ORPHA:238744", "Onycho-digito-mammary syndrome": "ORPHA:238744", "Ptosis-syndactyly-learning difficulties syndrome": "ORPHA:238766", "1q44 microdeletion syndrome": "ORPHA:238769", "Del(1)(q44)": "ORPHA:238769", "Monosomy 1q44": "ORPHA:238769", "OBSOLETE: Lymphoproliferative syndrome": "ORPHA:238510", "Hypotonia-cystinuria type 1 syndrome": "ORPHA:238517", "Combined immunodeficiency due to CD27 deficiency": "ORPHA:238505", "Autosomal recessive lymphoproliferative disease due to CD27 deficiency": "ORPHA:238505", "CD27 deficiency": "ORPHA:238505", "Hypohidrotic ectodermal dysplasia": "ORPHA:238468", "Anhidrotic ectodermal dysplasia": "ORPHA:238468", "HED": "ORPHA:238468", "Familial hypercholanemia": "ORPHA:238475", "Hereditary hypercholanemia": "ORPHA:238475", "Infantile dystonia-parkinsonism": "ORPHA:238455", "DTDS": "ORPHA:238455", "Dopamine transporter deficiency syndrome": "ORPHA:238455", "IPD": "ORPHA:238455", "PKDYS": "ORPHA:238455", "SLC35A1-CDG": "ORPHA:238459", "CDG syndrome type IIf": "ORPHA:238459", "CDG-IIf": "ORPHA:238459", "CDG2F": "ORPHA:238459", "CMP-sialic acid transporter deficiency": "ORPHA:238459", "Carbohydrate deficient glycoprotein syndrome type IIf": "ORPHA:238459", "Congenital disorder of glycosylation type 2f": "ORPHA:238459", "Congenital disorder of glycosylation type IIf": "ORPHA:238459", "Familial clubfoot due to 17q23.1q23.2 microduplication": "ORPHA:238578", "Hereditary clubfoot due to 17q23.1-q23.2 microduplication": "ORPHA:238578", "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency": "ORPHA:238583", "Hyperphenylalaninemia due to BH4 deficiency": "ORPHA:238583", "Chuvash erythrocytosis": "ORPHA:238557", "Chuvash polycythemia": "ORPHA:238557", "Von Hippel-Lindau-dependent polycythemia": "ORPHA:238557", "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome": "ORPHA:238569", "IL10-related early-onset IBD": "ORPHA:238569", "IL10-related early-onset inflammatory bowel disease": "ORPHA:238569", "Acquired secondary polycythemia": "ORPHA:238547", "Acquired secondary erythrocytosis": "ORPHA:238547", "Atypical hypotonia-cystinuria syndrome": "ORPHA:238523", "Atypical HCS": "ORPHA:238523", "Congenital secondary polycythemia": "ORPHA:238536", "Congenital secondary erythrocytosis": "ORPHA:238536", "Megacystis-megaureter syndrome": "ORPHA:238637", "Megaureter-megacystis syndrome": "ORPHA:238637", "Idiopathic intracranial hypertension": "ORPHA:238624", "Benign intracranial hypertension": "ORPHA:238624", "IIH": "ORPHA:238624", "Pseudotumor cerebri": "ORPHA:238624", "Ileal pouch anal anastomosis related faecal incontinence": "ORPHA:238621", "NON RARE IN EUROPE: Alzheimer disease": "ORPHA:238616", "Beckwith-Wiedemann syndrome due to NSD1 mutation": "ORPHA:238613", "Primary orthostatic tremor": "ORPHA:238606", "POT": "ORPHA:238606", "IgG4-related mesenteritis": "ORPHA:238593", "Isolated mesenteric lipodystrophy": "ORPHA:238593", "Lipomatous mesenteritis": "ORPHA:238593", "Liposclerotic mesenteritis": "ORPHA:238593", "Mesenteric lipogranuloma": "ORPHA:238593", "Mesenteric panniculitis": "ORPHA:238593", "Sclerosing mesenteritis": "ORPHA:238593", "OBSOLETE: Congenital liver hemangioma": "ORPHA:238691", "OBSOLETE: Congenital hepatic hemangioma": "ORPHA:238691", "Neonatal iodine exposure": "ORPHA:238688", "Isolated thyrotropin-releasing hormone deficiency": "ORPHA:238670", "Isolated TRF deficiency": "ORPHA:238670", "Isolated TRH deficiency": "ORPHA:238670", "Isolated TSH-releasing factor deficiency": "ORPHA:238670", "Isolated prothyroliberin deficiency": "ORPHA:238670", "Isolated protirelin deficiency": "ORPHA:238670", "Isolated thyroliberin deficiency": "ORPHA:238670", "Isolated thyrotropin-releasing factor deficiency": "ORPHA:238670", "Isolated congenital hypogonadotropic hypogonadism": "ORPHA:238666", "Gonadotropic deficiency": "ORPHA:238666", "Isolated congenital gonadotropin deficiency": "ORPHA:238666", "Isolated gonadotropin-releasing hormone deficiency": "ORPHA:238666", "Congenital primary megaureter, nonrefluxing and unobstructed form": "ORPHA:238654", "Congenital primary megaureter, refluxing form": "ORPHA:238650", "Congenital primary megaureter, obstructed form": "ORPHA:238646", "Primary megaureter, adult-onset form": "ORPHA:238642", "Syndromic obesity": "ORPHA:240371", "OBSOLETE: Systemic non-Langerhans cell histiocytosis": "ORPHA:240266", "Classic progressive supranuclear palsy syndrome": "ORPHA:240071", "Classic PSP syndrome": "ORPHA:240071", "Richardson syndrome": "ORPHA:240071", "Steele-Richardson-Olszewski disease": "ORPHA:240071", "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome": "ORPHA:240112", "PSP-AOS": "ORPHA:240112", "PSP-PNFA": "ORPHA:240112", "Progressive supranuclear palsy-apraxia of speech syndrome": "ORPHA:240112", "Progressive supranuclear palsy-corticobasal syndrome": "ORPHA:240103", "PSP-CBS": "ORPHA:240103", "PSP-corticobasal syndrome": "ORPHA:240103", "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome": "ORPHA:240094", "PSP-PAGF": "ORPHA:240094", "PSP-pure akinesia with gait freezing": "ORPHA:240094", "Progressive supranuclear palsy-predominant parkinsonism syndrome": "ORPHA:240085", "PSP-p": "ORPHA:240085", "PSP-parkinsonism": "ORPHA:240085", "Nijmegen breakage syndrome-like disorder": "ORPHA:240760", "Microcephaly and chromosomal instability without immunodeficiency": "ORPHA:240760", "NBS-like disorder": "ORPHA:240760", "NBSLD": "ORPHA:240760", "RAD50 deficiency": "ORPHA:240760", "Susceptibility to infection due to TYK2 deficiency": "ORPHA:331226", "Hyper-IgE syndrome": "ORPHA:331223", "Selective IgM deficiency": "ORPHA:331235", "Selective immunoglobulin M deficiency": "ORPHA:331235", "Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells": "ORPHA:331232", "Other immunodeficiency syndrome with predominantly antibody defects": "ORPHA:331244", "Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells": "ORPHA:331240", "Primary hemophagocytic lymphohistiocytosis with hypopigmentation": "ORPHA:331249", "Genetic HLH with hypopigmentation": "ORPHA:331249", "Genetic hemophagocytic lymphohistiocytosis with hypopigmentation": "ORPHA:331249", "Primary HLH with hypopigmentation": "ORPHA:331249", "Severe congenital neutropenia due to G6PC3 deficiency": "ORPHA:331176", "SCN due to G6PC3 deficiency": "ORPHA:331176", "SCN4": "ORPHA:331176", "Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency": "ORPHA:331176", "Severe congenital neutropenia type 4": "ORPHA:331176", "Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome": "ORPHA:331176", "Syndrome with congenital neutropenia as a major feature": "ORPHA:331184", "Syndrome with constitutional neutropenia as a major feature": "ORPHA:331184", "Syndrome with genetic neutropenia as a major feature": "ORPHA:331184", "Immunodeficiency due to MASP-2 deficiency": "ORPHA:331187", "Immunodeficiency due to ficolin3 deficiency": "ORPHA:331190", "Other immunodeficiency syndromes due to defects in innate immunity": "ORPHA:331193", "Severe combined immunodeficiency due to complete RAG1/2 deficiency": "ORPHA:331206", "SCID due to complete RAG1/2 deficiency": "ORPHA:331206", "Syndrome with combined immunodeficiency": "ORPHA:331217", "Syndome with combined immunodeficiency due to thymic defect": "ORPHA:331220", "Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability": "ORPHA:330206", "Genetic MCA": "ORPHA:330206", "Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)": "ORPHA:330206", "OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome": "ORPHA:330197", "OBSOLETE: Genetic MCA/variable MR": "ORPHA:330197", "OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome": "ORPHA:330197", "Chronic actinic dermatitis": "ORPHA:330064", "Actinic reticuloid": "ORPHA:330064", "Chronic photosensitivity dermatitis": "ORPHA:330064", "OBSOLETE: Lymphomatous meningitis": "ORPHA:329998", "Wild type ATTR amyloidosis": "ORPHA:330001", "ATTRwt amyloidosis": "ORPHA:330001", "ATTRwt-related amyloidosis": "ORPHA:330001", "Senile systemic amyloidosis": "ORPHA:330001", "Wild type ATTR-related amyloidosis": "ORPHA:330001", "Classic neuroendocrine tumor of appendix": "ORPHA:329977", "Classic appendiceal neuroendocrine tumor": "ORPHA:329977", "Classic appendix neuroendocrine tumor": "ORPHA:329977", "Goblet cell carcinoma": "ORPHA:329984", "GCC": "ORPHA:329984", "Goblet cell adenocarcinoid": "ORPHA:329984", "Goblet cell carcinoid": "ORPHA:329984", "Goblet cell tumor": "ORPHA:329984", "High altitude pulmonary edema": "ORPHA:330012", "HAPE": "ORPHA:330012", "Lead poisoning": "ORPHA:330015", "Lead intoxication": "ORPHA:330015", "Plumbism": "ORPHA:330015", "Saturnism": "ORPHA:330015", "NON RARE IN EUROPE: Macular telangiectasia type 2": "ORPHA:330006", "OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk": "ORPHA:330009", "Hemoglobin Lepore-beta-thalassemia syndrome": "ORPHA:330032", "HbLepore-beta-thalassemia syndrome": "ORPHA:330032", "Lepore-beta-thalassemia syndrome": "ORPHA:330032", "Hemoglobin M disease": "ORPHA:330041", "M hemoglobinopathy": "ORPHA:330041", "Mercury poisoning": "ORPHA:330021", "Hydrargyria": "ORPHA:330021", "Mercurialism": "ORPHA:330021", "Mercury intoxication": "ORPHA:330021", "Hypotrichosis-deafness syndrome": "ORPHA:330029", "Hypotrichosis-hearing loss syndrome": "ORPHA:330029", "Hydroa vacciniforme": "ORPHA:330058", "Actinic prurigo": "ORPHA:330061", "Familial polymorphous light eruption of American Indians": "ORPHA:330061", "Hereditary polymorphous light eruption of American Indians": "ORPHA:330061", "Hutchinson summer prurigo": "ORPHA:330061", "Hydroa aestivale": "ORPHA:330061", "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect": "ORPHA:330050", "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome": "ORPHA:330054", "Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome": "ORPHA:330054", "Mosaic genome-wide paternal uniparental disomy syndrome": "ORPHA:329813", "Androgenetic/biparental mosaicism": "ORPHA:329813", "Genome-wide paternal uniparental disomy mosaicism": "ORPHA:329813", "Mosaic genome-wide paternal UPD": "ORPHA:329813", "5p13 microduplication syndrome": "ORPHA:329802", "Dup(5)(p13)": "ORPHA:329802", "Trisomy 5p13": "ORPHA:329802", "Non-hypoproteinemic hypertrophic gastropathy": "ORPHA:329883", "Hypertrophic gastropathy without hypoproteinemia": "ORPHA:329883", "Idiopathic giant cell myocarditis": "ORPHA:329874", "IGCM": "ORPHA:329874", "Spastic paraplegia-Paget disease of bone syndrome": "ORPHA:329475", "Lipoprotein glomerulopathy": "ORPHA:329481", "LPG": "ORPHA:329481", "Adult-onset distal myopathy due to VCP mutation": "ORPHA:329478", "Transient neonatal multiple acyl-CoA dehydrogenase deficiency": "ORPHA:329942", "Transient neonatal MAD deficiency": "ORPHA:329942", "Transient neonatal MADD": "ORPHA:329942", "Transient neonatal glutaric acidemia type 2": "ORPHA:329942", "Transient neonatal glutaric aciduria type 2": "ORPHA:329942", "C3 glomerulonephritis": "ORPHA:329931", "Generalized juvenile polyposis/juvenile polyposis coli": "ORPHA:329971", "Intermittent hydrarthrosis": "ORPHA:329967", "Juvenile overlap myositis": "ORPHA:329894", "Juvenile idiopathic inflammatory myopathy": "ORPHA:329888", "JIIM": "ORPHA:329888", "C3 glomerulopathy": "ORPHA:329918", "Non-Ig-mediated MPGN": "ORPHA:329918", "Non-Ig-mediated membranoproliferative glomerulonephritis": "ORPHA:329918", "Non-immunoglobulin-mediated MPGN": "ORPHA:329918", "Non-immunoglobulin-mediated membranoproliferative glomerulonephritis": "ORPHA:329918", "Immunoglobulin-mediated membranoproliferative glomerulonephritis": "ORPHA:329903", "Ig-mediated MPGN": "ORPHA:329903", "Ig-mediated membranoproliferative glomerulonephritis": "ORPHA:329903", "Immunoglobulin-mediated MPGN": "ORPHA:329903", "Fatty acid hydroxylase-associated neurodegeneration": "ORPHA:329308", "FAHN": "ORPHA:329308", "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency": "ORPHA:329314", "Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency": "ORPHA:329314", "Thrombocythemia with distal limb defects": "ORPHA:329319", "Familial thrombocytosis with transverse limb defect": "ORPHA:329319", "Hereditary thrombocytosis with transverse limb defect": "ORPHA:329319", "Inverse Klippel-Tr\u00e9naunay syndrome": "ORPHA:329324", "Cutaneous hemangioma with muscle or bone atrophy": "ORPHA:329324", "Beta-propeller protein-associated neurodegeneration": "ORPHA:329284", "BPAN": "ORPHA:329284", "NBIA5": "ORPHA:329284", "Neurodegeneration with brain iron accumulation type 5": "ORPHA:329284", "SENDA": "ORPHA:329284", "Static encephalopathy of childhood with neurodegeneration in adulthood": "ORPHA:329284", "PLA2G6-associated neurodegeneration": "ORPHA:329303", "PLAN": "ORPHA:35069", "Distal arthrogryposis type 5D": "ORPHA:329457", "DA5D": "ORPHA:329457", "Distal arthrogryposis type 5 without ophthalmoparesis": "ORPHA:329457", "Distal arthrogryposis type 5 without ophthalmoplegia": "ORPHA:329457", "Autosomal dominant focal dystonia, DYT25 type": "ORPHA:329466", "DYT25": "ORPHA:329466", "Dystonia 25": "ORPHA:329466", "Acute megakaryoblastic leukemia in children without Down syndrome": "ORPHA:329469", "Acute megakaryoblastic leukemia in children without trisomy 21": "ORPHA:329469", "Non-DS-AMKL": "ORPHA:329469", "Autosomal recessive frontotemporal pachygyria": "ORPHA:329329", "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome": "ORPHA:329332", "Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome": "ORPHA:329332", "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy": "ORPHA:329336", "Adult-onset CPEO with mitochondrial myopathy": "ORPHA:329336", "OBSOLETE: Limbic encephalitis with DPP6 antibodies": "ORPHA:329341", "OBSOLETE: Limbic encephalitis with DPPX antibodies": "ORPHA:329341", "OBSOLETE: Limbic encephalitis with dipeptidyl-peptidase 6 antibodies": "ORPHA:329341", "Microcephalic primordial dwarfism due to ZNF335 deficiency": "ORPHA:329228", "Microcephalic primordial dwarfism, Walsh type": "ORPHA:329228", "Schuurs-Hoeijmakers syndrome": "ORPHA:329224", "PACS1-NDD": "ORPHA:329224", "PACS1-neurodevelopmental disorder": "ORPHA:329224", "PACS1-related syndrome": "ORPHA:329224", "Cerebral sinovenous thrombosis": "ORPHA:329217", "CSVT": "ORPHA:329217", "Autosomal dominant neovascular inflammatory vitreoretinopathy": "ORPHA:329211", "ADNIV": "ORPHA:329211", "OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome": "ORPHA:329206", "OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome": "ORPHA:329206", "Developmental delay with autism spectrum disorder and gait instability": "ORPHA:329195", "Developmental delay with ASD and gait instability": "ORPHA:329195", "Tall stature-long halluces-multiple extra-epiphyses syndrome": "ORPHA:329191", "Tall stature-scoliosis-macrodactyly of the halluces syndrome": "ORPHA:329191", "Congenital muscular dystrophy with intellectual disability and severe epilepsy": "ORPHA:329178", "CDG syndrome type Iu": "ORPHA:329178", "CDG-Iu": "ORPHA:329178", "CDG1U": "ORPHA:329178", "CMD with intellectual disability and severe epilepsy": "ORPHA:329178", "Carbohydrate deficient glycoprotein syndrome type Iu": "ORPHA:329178", "Congenital disorder of glycosylation type 1u": "ORPHA:329178", "Congenital disorder of glycosylation type Iu": "ORPHA:329178", "DPM2-CDG": "ORPHA:329178", "Autosomal dominant Charcot-Marie-Tooth disease type 2Q": "ORPHA:329258", "CMT2Q": "ORPHA:329258", "Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency": "ORPHA:329255", "OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome": "ORPHA:329252", "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency": "ORPHA:329249", "Congenital chronic diarrhea with protein-losing enteropathy": "ORPHA:329242", "Congenital chronic diarrhea with exudative enteropathy": "ORPHA:329242", "X-linked central congenital hypothyroidism with late-onset testicular enlargement": "ORPHA:329235", "IGSF1 deficiency syndrome": "ORPHA:329235", "X-linked central congenital hypothyroidism with late-onset macroorchidism": "ORPHA:329235", "OBSOLETE: Rare bone disease with limb reduction defect": "ORPHA:328269", "OBSOLETE: Rare bone disease with limb hypoplasia": "ORPHA:328269", "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis": "ORPHA:329173", "Genetic 46,XX difference of sex development": "ORPHA:325697", "Genetic 46,XX DSD": "ORPHA:325697", "Genetic 46,XX disorder of sex development": "ORPHA:325697", "Genetic difference of sex development": "ORPHA:325690", "Genetic DSD": "ORPHA:325690", "Genetic disorder of sex development": "ORPHA:325690", "Genetic 46,XY difference of sex development of endocrine origin": "ORPHA:325713", "Genetic 46,XY DSD of endocrine origin": "ORPHA:325713", "Genetic 46,XY disorder of sex development of endocrine origin": "ORPHA:325713", "Genetic 46,XY difference of sex development": "ORPHA:325706", "Genetic 46,XY DSD": "ORPHA:325706", "Genetic 46,XY disorder of sex development": "ORPHA:325706", "Syndrome with difference of sex development of gynecological interest": "ORPHA:325638", "Syndrome with DSD of gynecological interest": "ORPHA:325638", "Syndrome with disorder of sex development of gynecological interest": "ORPHA:325638", "Genetic difference of sex development of gynecological interest": "ORPHA:325665", "Genetic DSD of gynecological interest": "ORPHA:325665", "Genetic disorder of sex development of gynecological interest": "ORPHA:325665", "Difference of sex development of gynecological interest": "ORPHA:325620", "DSD of gynecological interest": "ORPHA:325620", "Disorder of sex development of gynecological interest": "ORPHA:325620", "46,XY difference of sex development of gynecological interest": "ORPHA:325632", "46,XY DSD of gynecological interest": "ORPHA:325632", "46,XY disorder of sex development of gynecological interest": "ORPHA:325632", "Congenital factor XI deficiency": "ORPHA:329", "Hemophilia C": "ORPHA:329", "PTA deficiency": "ORPHA:329", "Plasma thromboplastin antecedent deficiency": "ORPHA:329", "Rosenthal factor deficiency": "ORPHA:329", "Rosenthal syndrome": "ORPHA:329", "Best vitelliform macular dystrophy": "ORPHA:1243", "BMD": "ORPHA:98895", "BVMD": "ORPHA:1243", "Best disease": "ORPHA:1243", "Best macular dystrophy": "ORPHA:1243", "Early-onset vitelliform macular dystrophy": "ORPHA:1243", "Juvenile-onset vitelliform macular dystrophy": "ORPHA:1243", "Polymorphic vitelline macular degeneration": "ORPHA:1243", "Vitelliform macular dystrophy type 2": "ORPHA:1243", "46,XY difference of sex development due to a cholesterol synthesis defect": "ORPHA:325511", "46,XY DSD due to a cholesterol synthesis defect": "ORPHA:325511", "46,XY disorder of sex development due to a cholesterol synthesis defect": "ORPHA:325511", "Classic congenital lipoid adrenal hyperplasia due to STAR deficency": "ORPHA:325524", "Classic CLAH": "ORPHA:325524", "46,XY difference of sex development due to impaired androgen production": "ORPHA:325357", "46,XY DSD due to impaired androgen production": "ORPHA:325357", "46,XY disorder of sex development due to impaired androgen production": "ORPHA:325357", "Leydig cell hypoplasia due to LHB deficiency": "ORPHA:325448", "46,XY DSD due to LHB deficiency": "ORPHA:325448", "46,XY DSD due to luteinizing hormone subunit beta deficiency": "ORPHA:325448", "46,XY disorder of sex development due to LHB deficiency": "ORPHA:325448", "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency": "ORPHA:325448", "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency": "ORPHA:325448", "Sex chromosome difference of sex development": "ORPHA:325546", "Sex chromosome DSD": "ORPHA:325546", "Sex chromosome disorder of sex development": "ORPHA:325546", "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency": "ORPHA:325529", "46,XY difference of sex development induced by maternal exposure to endocrine disruptors": "ORPHA:325537", "46,XY DSD induced by maternal-exposure to endocrine disruptors": "ORPHA:325537", "46,XY disorder of sex development induced by maternal exposure to endocrine disruptors": "ORPHA:325537", "Testicular agenesis": "ORPHA:325124", "Bilateral anorchia": "ORPHA:325124", "46,XY disorder of gonadal development": "ORPHA:325118", "46,XY difference of sex development of endocrine origin": "ORPHA:325351", "46,XY DSD of endocrine origin": "ORPHA:325351", "46,XY disorder of sex development of endocrine origin": "ORPHA:325351", "46,XY ovotesticular difference of sex development": "ORPHA:325345", "46,XY ovotesticular DSD": "ORPHA:325345", "46,XY ovotesticular disorder of sex development": "ORPHA:325345", "46,XX disorder of gonadal development": "ORPHA:325055", "Syndrome with 46,XX difference of sex development": "ORPHA:325109", "Syndrome with 46,XX DSD": "ORPHA:325109", "Syndrome with 46,XX disorder of sex development": "ORPHA:325109", "46,XX difference of sex development induced by exogenous maternal-derived androgen": "ORPHA:325099", "46,XX DSD induced by exogenous maternal-derived androgen": "ORPHA:325099", "46,XX disorder of sex development induced by exogenous maternal-derived androgen": "ORPHA:325099", "46,XX difference of sex development induced by endogenous maternal-derived androgen": "ORPHA:325093", "46,XX DSD induced by endogenous maternal-derived androgen": "ORPHA:325093", "46,XX disorder of sex development induced by endogenous maternal-derived androgen": "ORPHA:325093", "46,XX difference of sex development induced by fetoplacental androgens excess": "ORPHA:325061", "46,XX DSD induced by fetoplacental androgens excess": "ORPHA:325061", "46,XX disorder of sex development induced by fetoplacental androgens excess": "ORPHA:325061", "OBSOLETE: Adult-onset SAPHO syndrome": "ORPHA:324982", "OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome": "ORPHA:324982", "OBSOLETE: Juvenile-onset SAPHO syndrome": "ORPHA:324989", "OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome": "ORPHA:324989", "JMP syndrome": "ORPHA:324999", "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome": "ORPHA:324999", "CANDLE syndrome": "ORPHA:325004", "Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome": "ORPHA:325004", "Unexplained periodic fever syndrome of childhood": "ORPHA:324960", "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis": "ORPHA:324964", "CNO/CRMO": "ORPHA:324964", "MAGIC syndrome": "ORPHA:324972", "Mouth and genital ulcers-inflamed cartilage syndrome": "ORPHA:324972", "Proteasome-associated autoinflammatory syndrome": "ORPHA:324977", "ALDD syndrome": "ORPHA:324977", "Autoinflammation-lipodystrophy-dermatosis syndrome": "ORPHA:324977", "PRAAS": "ORPHA:324977", "Proteasome disability syndrome": "ORPHA:324977", "Periodic fever syndrome of childhood": "ORPHA:324939", "Pyogenic autoinflammatory syndrome of childhood": "ORPHA:324942", "Granulomatous autoinflammatory syndrome of childhood": "ORPHA:324950", "Unclassified autoinflammatory syndrome of childhood": "ORPHA:324953", "Pyogenic autoinflammatory syndrome": "ORPHA:324927", "Granulomatous autoinflammatory syndrome": "ORPHA:324930", "Mixed autoinflammatory and autoimmune syndrome": "ORPHA:324933", "Unclassified autoinflammatory syndrome": "ORPHA:324936", "Trichorhinophalangeal syndrome": "ORPHA:324764", "Microcephalic primordial dwarfism": "ORPHA:324761", "Hereditary periodic fever syndrome": "ORPHA:324924", "Non-familial rare disease with dilated cardiomyopathy": "ORPHA:324767", "ABetaA21G amyloidosis": "ORPHA:324718", "ABeta amyloidosis, Flemish type": "ORPHA:324718", "ABetaA21G-related amyloidosis": "ORPHA:324718", "HCHWA, Flemish type": "ORPHA:324718", "Hereditary cerebral hemorrhage with amyloidosis, Flemish type": "ORPHA:324718", "ABeta amyloidosis, Italian type": "ORPHA:324713", "ABetaE22K amyloidosis": "ORPHA:324713", "HCHWA, Italian type": "ORPHA:324713", "Hereditary cerebral hemorrhage with amyloidosis, Italian type": "ORPHA:324713", "SRD5A3-CDG": "ORPHA:324737", "CDG syndrome type Iq": "ORPHA:324737", "CDG-Iq": "ORPHA:324737", "CDG1Q": "ORPHA:324737", "Congenital disorder of glycosylation type 1q": "ORPHA:324737", "Congenital disorder of glycosylation type Iq": "ORPHA:324737", "ABeta amyloidosis, Arctic type": "ORPHA:324723", "ABetaE22G amyloidosis": "ORPHA:324723", "HCHWA, Arctic type": "ORPHA:324723", "Hereditary cerebral hemorrhage with amyloidosis, Arctic type": "ORPHA:324723", "Invasive non-typhoidal salmonellosis": "ORPHA:324648", "Invasive non-typhoidal salmonella disease": "ORPHA:324648", "iNTS disease": "ORPHA:324648", "Autoerythrocyte sensitization syndrome": "ORPHA:324636", "GDS": "ORPHA:324636", "Gardner-Diamond syndrome": "ORPHA:324636", "Painful bruising syndrome": "ORPHA:324636", "Psychogenic purpura": "ORPHA:324636", "ABeta amyloidosis, Iowa type": "ORPHA:324708", "ABetaD23N amyloidosis": "ORPHA:324708", "HCHWA, Iowa type": "ORPHA:324708", "Hereditary cerebral hemorrhage with amyloidosis, Iowa type": "ORPHA:324708", "ABetaL34V amyloidosis": "ORPHA:324703", "ABeta amyloidosis, Piedmont type": "ORPHA:324703", "ABetaL34V-related amyloidosis": "ORPHA:324703", "HCHWA, Piedmont type": "ORPHA:324703", "Hereditary cerebral hemorrhage with amyloidosis, Piedmont type": "ORPHA:324703", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation": "ORPHA:324611", "CMT2 due to KIF5A mutation": "ORPHA:324611", "Classic multiminicore myopathy": "ORPHA:324604", "Classic MmD": "ORPHA:324604", "Classic multiminicore disease": "ORPHA:324604", "Hendra virus infection": "ORPHA:324632", "Chikungunya": "ORPHA:324625", "Familial dyskinesia and facial myokymia": "ORPHA:324588", "FDFM": "ORPHA:324588", "X-linked cleft palate and ankyloglossia": "ORPHA:324601", "Benign Samaritan congenital myopathy": "ORPHA:324581", "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain": "ORPHA:324585", "Autosomal dominant intermediate CMT disease with neuropathic pain": "ORPHA:324585", "Pontocerebellar hypoplasia type 8": "ORPHA:324569", "PCH8": "ORPHA:324569", "Pontocerebellar hypoplasia due to CHMP1A mutation": "ORPHA:324569", "Hyperinsulinism due to HNF1A deficiency": "ORPHA:324575", "Hyperinsulinemic hypoglycemia due to HNF1A deficiency": "ORPHA:324575", "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome": "ORPHA:324540", "Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome": "ORPHA:324540", "Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome": "ORPHA:324540", "Hypopigmentation-punctate palmoplantar keratoderma syndrome": "ORPHA:324561", "Cole disease": "ORPHA:324561", "Guttate hypopigmentation and punctate palmoplantar keratoderma": "ORPHA:324561", "Hypopigmentation and punctate keratosis of the palms and soles": "ORPHA:324561", "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation": "ORPHA:324530", "APLAID": "ORPHA:324530", "Combined oxidative phosphorylation defect type 11": "ORPHA:324535", "COXPD11": "ORPHA:324535", "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation": "ORPHA:324525", "Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation": "ORPHA:324525", "Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation": "ORPHA:324525", "Autosomal recessive axonal neuropathy with neuromyotonia": "ORPHA:324442", "ARAN-NM": "ORPHA:324442", "ARCMT2-NM": "ORPHA:324442", "Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia": "ORPHA:324442", "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome": "ORPHA:324416", "ALG13-CDG": "ORPHA:324422", "CDG syndrome type Is": "ORPHA:324422", "CDG-Is": "ORPHA:324422", "CDG1S": "ORPHA:324422", "Congenital disorder of glycosylation type 1s": "ORPHA:324422", "Congenital disorder of glycosylation type Is": "ORPHA:324422", "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome": "ORPHA:324410", "Hereditary inclusion body myopathy type 4": "ORPHA:324381", "HIBM4": "ORPHA:324381", "Mixed sclerosing bone dystrophy with extra-skeletal manifestations": "ORPHA:324364", "Congenital achiasma": "ORPHA:324353", "Sinoatrial node dysfunction and deafness": "ORPHA:324321", "Sinoatrial node dysfunction and hearing loss": "ORPHA:324321", "9p13 microdeletion syndrome": "ORPHA:324313", "Del(9)(p13)": "ORPHA:324313", "Monosomy 9p13": "ORPHA:324313", "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome": "ORPHA:324307", "Multiple paragangliomas associated with polycythemia": "ORPHA:324299", "Multiple paragangliomas associated with erythrocytosis": "ORPHA:324299", "Paraganglioma-somatostatinoma-polycythemia syndrome": "ORPHA:324299", "T-cell immunodeficiency with epidermodysplasia verruciformis": "ORPHA:324294", "T-cell immunodeficiency due to RHOH deficiency": "ORPHA:324294", "Early-onset Lafora body disease": "ORPHA:324290", "Genetic tumor of hematopoietic and lymphoid tissues": "ORPHA:322126", "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency": "ORPHA:324262", "Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency": "ORPHA:324262", "Autosomal recessive spinocerebellar ataxia type 13": "ORPHA:324262", "SCAR13": "ORPHA:324262", "NON RARE IN EUROPE: Partial color blindness, protan type": "ORPHA:319691", "NON RARE IN EUROPE: Partial achromatopsia, protan type": "ORPHA:319691", "NON RARE IN EUROPE: Protanopia": "ORPHA:319691", "NON RARE IN EUROPE: Partial color blindness, deutan type": "ORPHA:319698", "NON RARE IN EUROPE: Deuteranopia": "ORPHA:319698", "NON RARE IN EUROPE: Partial achromatopsia, deutan type": "ORPHA:319698", "NON RARE IN EUROPE: Parkinson disease": "ORPHA:319705", "Autoinflammatory syndrome of childhood": "ORPHA:319719", "OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome": "ORPHA:320317", "X-linked pure spastic paraplegia": "ORPHA:320332", "Pure or complex hereditary spastic paraplegia": "ORPHA:320335", "Pure or complex familial spastic paraplegia": "ORPHA:320335", "Pure or complicated familial spastic paraplegia": "ORPHA:320335", "Pure or complicated hereditary spastic paraplegia": "ORPHA:320335", "Pure or complex autosomal dominant spastic paraplegia": "ORPHA:320342", "Pure or complicated autosomal dominant spastic paraplegia": "ORPHA:320342", "Pure or complex autosomal recessive spastic paraplegia": "ORPHA:320346", "Pure or complicated autosomal recessive spastic paraplegia": "ORPHA:320346", "Pure or complex X-linked spastic paraplegia": "ORPHA:320350", "Pure or complicated X-linked spastic paraplegia": "ORPHA:320350", "MT-ATP6-related mitochondrial spastic paraplegia": "ORPHA:320360", "Maternally-inherited SPG": "ORPHA:320360", "Maternally-inherited spastic paraplegia": "ORPHA:320360", "Autosomal dominant spastic paraplegia type 41": "ORPHA:320355", "SPG41": "ORPHA:320355", "Autosomal recessive spastic paraplegia type 43": "ORPHA:320370", "SPG43": "ORPHA:320370", "Autosomal dominant spastic paraplegia type 36": "ORPHA:320365", "SPG36": "ORPHA:320365", "Autosomal recessive spastic paraplegia type 54": "ORPHA:320380", "SPG54": "ORPHA:320380", "Autosomal recessive spastic paraplegia type 55": "ORPHA:320375", "SPG55": "ORPHA:320375", "Autosomal recessive spastic paraplegia type 46": "ORPHA:320391", "SPG46": "ORPHA:320391", "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation": "ORPHA:320385", "Autosomal recessive spastic paraplegia type 49": "ORPHA:320385", "HSAN due to TECPR2 mutation": "ORPHA:320385", "SPG49": "ORPHA:320385", "Autosomal recessive spastic paraplegia type 44": "ORPHA:320401", "SPG44": "ORPHA:320401", "Autosomal recessive spastic paraplegia type 45": "ORPHA:320396", "Autosomal recessive spastic paraplegia type 65": "ORPHA:320396", "SPG45": "ORPHA:320396", "SPG65": "ORPHA:320396", "Autosomal recessive spastic paraplegia type 56": "ORPHA:320411", "SPG56": "ORPHA:320411", "Spastic paraplegia-optic atrophy-neuropathy syndrome": "ORPHA:320406", "SPOAN": "ORPHA:320406", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency": "ORPHA:319543", "Autosomal dominant MSMD due to a partial deficiency": "ORPHA:319543", "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency": "ORPHA:319547", "MSMD due to complete IFNgammaR2 deficiency": "ORPHA:319547", "MSMD due to complete interferon gamma receptor 2 deficiency": "ORPHA:319547", "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency": "ORPHA:319547", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency": "ORPHA:319535", "Autosomal recessive MSMD due to a complete deficiency": "ORPHA:319535", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency": "ORPHA:319539", "Autosomal recessive MSMD due to a partial deficiency": "ORPHA:319539", "Combined oxidative phosphorylation defect type 14": "ORPHA:319519", "COXPD14": "ORPHA:319519", "Combined oxidative phosphorylation defect type 15": "ORPHA:319524", "COXPD15": "ORPHA:319524", "Combined oxidative phosphorylation defect type 9": "ORPHA:319509", "COXPD9": "ORPHA:319509", "Combined oxidative phosphorylation defect type 13": "ORPHA:319514", "COXPD13": "ORPHA:319514", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency": "ORPHA:319589", "Autosomal dominant MSMD due to partial IFNgammaR2 deficiency": "ORPHA:319589", "Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency": "ORPHA:319589", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency": "ORPHA:319589", "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency": "ORPHA:319595", "MSMD due to partial STAT1 deficiency": "ORPHA:319595", "MSMD due to partial signal transducer and activator of transcription 1 deficiency": "ORPHA:319595", "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency": "ORPHA:319595", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency": "ORPHA:319574", "Autosomal recessive MSMD due to partial IFNgammaR2 deficiency": "ORPHA:319574", "Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency": "ORPHA:319574", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency": "ORPHA:319574", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency": "ORPHA:319581", "Autosomal dominant MSMD due to partial IFNgammaR1 deficiency": "ORPHA:319581", "Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency": "ORPHA:319581", "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency": "ORPHA:319581", "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency": "ORPHA:319563", "MSMD due to complete ISG15 deficiency": "ORPHA:319563", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency": "ORPHA:319569", "Autosomal recessive MSMD due to partial IFNgammaR1 deficiency": "ORPHA:319569", "Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency": "ORPHA:319569", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency": "ORPHA:319569", "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency": "ORPHA:319552", "MSMD due to complete IL12RB1 deficiency": "ORPHA:319552", "MSMD due to complete interleukin 12 receptor beta 1 deficiency": "ORPHA:319552", "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency": "ORPHA:319552", "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency": "ORPHA:319558", "MSMD due to complete IL12B deficiency": "ORPHA:319558", "MSMD due to complete interleukin 12B deficiency": "ORPHA:319558", "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency": "ORPHA:319558", "Constitutional megaloblastic anemia with severe neurologic disease": "ORPHA:319651", "DHFR deficiency": "ORPHA:319651", "Dihydrofolate reductase deficiency": "ORPHA:319651", "PGM1-CDG": "ORPHA:319646", "CDG syndrome type It": "ORPHA:319646", "CDG-It": "ORPHA:319646", "CDG1T": "ORPHA:319646", "Congenital disorder of glycosylation type 1t": "ORPHA:319646", "Congenital disorder of glycosylation type It": "ORPHA:319646", "PGM1-related congenital disorder of glycosylation": "ORPHA:319646", "Phosphoglucomutase-1 deficiency": "ORPHA:319646", "Retinal macular dystrophy type 2": "ORPHA:319640", "MCDR2": "ORPHA:319640", "Amyloidosis cutis dyschromia": "ORPHA:319635", "Amyloidosis cutis dyschromica": "ORPHA:319635", "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency": "ORPHA:319623", "X-linked MSMD due to CYBB deficiency": "ORPHA:319623", "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency": "ORPHA:319612", "X-linked MSMD due to IKBKG deficiency": "ORPHA:319612", "X-linked MSMD due to NEMO deficiency": "ORPHA:319612", "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency": "ORPHA:319612", "X-linked mendelian susceptibility to mycobacterial diseases": "ORPHA:319605", "X-linked MSMD": "ORPHA:319605", "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency": "ORPHA:319600", "MSMD due to partial IRF8 deficiency": "ORPHA:319600", "MSMD due to partial interferon regulatory factor 8 deficiency": "ORPHA:319600", "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency": "ORPHA:319600", "NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency": "ORPHA:319684", "NON RARE IN EUROPE: Lactase non-persistence in adulthood": "ORPHA:319681", "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome": "ORPHA:319678", "Microcephalic primordial dwarfism, Dauber type": "ORPHA:319675", "Alazami syndrome": "ORPHA:319671", "Microcephalic primordial dwarfism, Alazami type": "ORPHA:319671", "Primary lymphoma of the conjunctiva": "ORPHA:319667", "Primary lymphoid conjunctival tumor": "ORPHA:319667", "NON RARE IN EUROPE: Unexplained intellectual disability": "ORPHA:319658", "Kyasanur forest disease": "ORPHA:319254", "Kyasanur hemorrhagic fever": "ORPHA:319254", "Monkey disease": "ORPHA:319254", "Monkey fever": "ORPHA:319254", "Omsk hemorrhagic fever": "ORPHA:319266", "Clear cell renal carcinoma": "ORPHA:319276", "CCRCC": "ORPHA:319276", "Clear cell renal cell adenocarcinoma": "ORPHA:319276", "Clear cell renal cell carcinoma": "ORPHA:319276", "Brazilian hemorrhagic fever": "ORPHA:319239", "Sabia hemorrhagic fever": "ORPHA:319239", "Chapare hemorrhagic fever": "ORPHA:319244", "Hantavirus pulmonary syndrome": "ORPHA:319247", "Rift valley fever": "ORPHA:319251", "OBSOLETE: Renal cell carcinoma associated with neuroblastoma": "ORPHA:319314", "OBSOLETE: Renal cell carcinoma after neuroblastoma": "ORPHA:319314", "Renal medullary carcinoma": "ORPHA:319319", "Mucinous tubular and spindle cell renal carcinoma": "ORPHA:319322", "Tubulocystic renal cell carcinoma": "ORPHA:319325", "Multilocular cystic renal neoplasm of low malignant potential": "ORPHA:319287", "MCRCC": "ORPHA:319287", "Multilocular clear cell adenocarcinoma": "ORPHA:319287", "Multilocular clear cell carcinoma": "ORPHA:319287", "Multilocular clear cell renal cell adenocarcinoma": "ORPHA:319287", "Multilocular clear cell renal cell carcinoma": "ORPHA:319287", "Multilocular cystic renal cell adenocarcinoma": "ORPHA:319287", "Multilocular cystic renal cell carcinoma": "ORPHA:319287", "Papillary renal cell carcinoma": "ORPHA:319298", "Papillary renal cell adenocarcinoma": "ORPHA:319298", "Chromophobe renal cell carcinoma": "ORPHA:319303", "Chromophobe renal cell adenocarcinoma": "ORPHA:319303", "MiT family translocation renal cell carcinoma": "ORPHA:319308", "Carcinoma associated with MITF/TFE translocation": "ORPHA:319308", "Translocation renal cell carcinoma": "ORPHA:319308", "Autosomal recessive myogenic arthrogryposis multiplex congenita": "ORPHA:319332", "Autosomal recessive myogenic AMC": "ORPHA:319332", "SYNE1-related AMC": "ORPHA:319332", "SYNE1-related arthrogryposis multiplex congenita": "ORPHA:319332", "Inherited renal cancer-predisposing syndrome": "ORPHA:319328", "Carney complex-trismus-pseudocamptodactyly syndrome": "ORPHA:319340", "Carney complex variant": "ORPHA:319340", "Familial papillary or follicular thyroid carcinoma": "ORPHA:319487", "FNMTC": "ORPHA:319487", "Familial pure nonmedullary thyroid carcinoma": "ORPHA:319487", "Acute myeloid leukemia with CEBPA somatic mutations": "ORPHA:319480", "AML with CEBPA somatic mutations": "ORPHA:319480", "Combined oxidative phosphorylation defect type 8": "ORPHA:319504", "COXPD8": "ORPHA:319504", "Familial nonmedullary thyroid carcinoma": "ORPHA:319494", "Inherited acute myeloid leukemia": "ORPHA:319465", "Familial AML": "ORPHA:319465", "Inherited AML": "ORPHA:319465", "Pure familial AML": "ORPHA:319465", "Pure familial acute myeloid leukemia": "ORPHA:319465", "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations": "ORPHA:319462", "Bilateral massive adrenal hemorrhage": "ORPHA:319205", "BMAH": "ORPHA:319205", "Bilateral adrenal hemorrhage": "ORPHA:319205", "Lujo hemorrhagic fever": "ORPHA:319213", "Zambian hemorrhagic fever": "ORPHA:319213", "Chondroectodermal dysplasia with night blindness": "ORPHA:319195", "Autosomal recessive spastic paraplegia type 53": "ORPHA:319199", "SPG53": "ORPHA:319199", "Bolivian hemorrhagic fever": "ORPHA:319229", "Machupo hemorrhagic fever": "ORPHA:319229", "Venezuelan hemorrhagic fever": "ORPHA:319234", "Guanarito hemorrhagic fever": "ORPHA:319234", "Ebola hemorrhagic fever": "ORPHA:319218", "EHF": "ORPHA:319218", "Ebola fever": "ORPHA:319218", "Ebola virus disease": "ORPHA:319218", "Argentine hemorrhagic fever": "ORPHA:319223", "Argentinian hemorrhagic fever": "ORPHA:319223", "Junin hemorrhagic fever": "ORPHA:319223", "Congenital myopathy with internal nuclei and atypical cores": "ORPHA:319160", "CNM4": "ORPHA:319160", "Centronuclear myopathy type 4": "ORPHA:319160", "Distal 17p13.1 microdeletion syndrome": "ORPHA:319171", "Distal del(17)(p13.1)": "ORPHA:319171", "Familial cortical myoclonus": "ORPHA:319189", "Diencephalic-mesencephalic junction dysplasia": "ORPHA:319192", "Wiedemann-Steiner syndrome": "ORPHA:319182", "Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome": "ORPHA:319182", "T-B- severe combined immunodeficiency": "ORPHA:317419", "T-B- SCID": "ORPHA:317419", "T-B+ severe combined immunodeficiency": "ORPHA:317416", "T-B+ SCID": "ORPHA:317416", "Combined immunodeficiency due to ORAI1 deficiency": "ORPHA:317428", "CID due to ORAI1 deficiency": "ORPHA:317428", "Severe combined immunodeficiency due to DNA-PKcs deficiency": "ORPHA:317425", "SCID due to DNA-PKcs deficiency": "ORPHA:317425", "Combined immunodeficiency due to STIM1 deficiency": "ORPHA:317430", "CID due to STIM1 deficiency": "ORPHA:317430", "Pancytopenia due to IKZF1 mutations": "ORPHA:317473", "CID due to IKAROS deficiency": "ORPHA:317473", "Combined immunodeficiency due to IKAROS deficiency": "ORPHA:317473", "XMEN": "ORPHA:317476", "CID due to MAGT1 deficiency": "ORPHA:317476", "Combined immunodeficiency due to MAGT1 deficiency": "ORPHA:317476", "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia": "ORPHA:317476", "Autoimmune disease with skin involvement": "ORPHA:315350", "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form": "ORPHA:315311", "Classic 21-OHD CAH, simple virilizing form": "ORPHA:315311", "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form": "ORPHA:315306", "Classic 21-OHD CAH, salt wasting form": "ORPHA:315306", "Cataract-congenital heart disease-neural tube defect syndrome": "ORPHA:314993", "X-linked non progressive cerebellar ataxia": "ORPHA:314978", "Lymphocytic hypereosinophilic syndrome": "ORPHA:314970", "HES-L": "ORPHA:314970", "Lymphocytic variant HES": "ORPHA:314970", "Lymphoid HES": "ORPHA:314970", "Secondary hypereosinophilic syndrome": "ORPHA:314962", "HES-R": "ORPHA:314962", "Reactive hypereosinophilic syndrome": "ORPHA:314962", "Secondary HES": "ORPHA:314962", "Primary hypereosinophilic syndrome": "ORPHA:314950", "Clonal hypereosinophilic syndrome": "ORPHA:314950", "HES-M": "ORPHA:314950", "HES-N": "ORPHA:314950", "Neoplastic hypereosinophilic syndrome": "ORPHA:314950", "Primary HES": "ORPHA:314950", "OBSOLETE: Mycobacterium xenopi infection": "ORPHA:314946", "NON RARE IN EUROPE: Normal pressure hydrocephalus": "ORPHA:314928", "NON RARE IN EUROPE: Chronic adult hydrocephalus": "ORPHA:314928", "Mild Canavan disease": "ORPHA:314918", "Juvenile Canavan disease": "ORPHA:314918", "Severe Canavan disease": "ORPHA:314911", "Infantile Canavan disease": "ORPHA:314911", "Neonatal Canavan disease": "ORPHA:314911", "Partial deletion of the short arm of chromosome 12 syndrome": "ORPHA:316244", "Partial deletion of chromosome 12p": "ORPHA:316244", "Partial monosomy of chromosome 12p": "ORPHA:316244", "Partial monosomy of the short arm of chromosome 12": "ORPHA:316244", "Autosomal dominant spastic ataxia": "ORPHA:316235", "AD-SPAX": "ORPHA:316235", "Autosomal recessive spastic ataxia": "ORPHA:316240", "AR-SPAX": "ORPHA:316240", "Spastic ataxia": "ORPHA:316226", "SPAX": "ORPHA:316226", "Primary systemic amyloidosis": "ORPHA:314701", "Systemic AL amyloidosis": "ORPHA:314701", "Acquired porencephaly": "ORPHA:314697", "Primary localized amyloidosis": "ORPHA:314709", "Localized AL amyloidosis": "ORPHA:314709", "Cerebrofacioarticular syndrome": "ORPHA:314679", "Van Maldergem syndrome": "ORPHA:314679", "TMEM165-CDG": "ORPHA:314667", "CDG syndrome type IIk": "ORPHA:314667", "CDG-IIk": "ORPHA:314667", "CDG2K": "ORPHA:314667", "Carbohydrate deficient glycoprotein syndrome type IIk": "ORPHA:314667", "Congenital disorder of glycosylation type 2k": "ORPHA:314667", "Congenital disorder of glycosylation type IIk": "ORPHA:314667", "Combined immunodeficiency due to STK4 deficiency": "ORPHA:314689", "CID due to STK4 deficiency": "ORPHA:314689", "Primary bone lymphoma": "ORPHA:314684", "Variant ABeta2M amyloidosis": "ORPHA:314652", "Autosomal dominant beta2-microglobulinic amyloidosis": "ORPHA:314652", "Non-progressive cerebellar ataxia with intellectual disability": "ORPHA:314647", "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia": "ORPHA:314662", "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion": "ORPHA:314655", "5q31.3 microdeletion syndrome": "ORPHA:314655", "Del(5)(q31.3)": "ORPHA:314655", "Monosomy 5q31.3": "ORPHA:314655", "CLN11 disease": "ORPHA:314629", "Neuronal ceroid lipofuscinosis type 11": "ORPHA:314629", "Duplication of the pituitary gland": "ORPHA:314621", "DPG-plus syndrome": "ORPHA:314621", "Duplication of the pituitary gland-plus syndrome": "ORPHA:314621", "Hypophyseal duplication": "ORPHA:314621", "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency": "ORPHA:314637", "COXPD10": "ORPHA:314637", "Combined oxidative phosphorylation defect type 10": "ORPHA:314637", "CLN12 disease": "ORPHA:314632", "ATP13A2-related juvenile neuronal ceroid lipofuscinosis": "ORPHA:314632", "Juvenile parkinsonism-neuronal ceroid lipofuscinosis": "ORPHA:314632", "Neuronal ceroid lipofuscinosis type 12": "ORPHA:314632", "Short stature due to partial GHR deficiency": "ORPHA:314802", "Short stature due to partial growth hormone receptor deficiency": "ORPHA:314802", "Short stature due to GHSR deficiency": "ORPHA:314811", "Ghrelin receptor deficiency": "ORPHA:314811", "Short stature due to growth hormone secretagogue receptor deficiency": "ORPHA:314811", "Primary renal tubular acidosis": "ORPHA:314822", "Autosomal dominant proximal renal tubular acidosis": "ORPHA:314889", "AD pRTA": "ORPHA:314889", "Familial isolated pituitary adenoma": "ORPHA:314777", "FIPA": "ORPHA:314777", "Silent pituitary adenoma": "ORPHA:314786", "Null pituitary adenoma": "ORPHA:314790", "SHOX-related short stature": "ORPHA:314795", "Functioning pituitary adenoma": "ORPHA:314753", "Endocrine active pituitary adenoma": "ORPHA:314753", "Secreting pituitary adenoma": "ORPHA:314753", "Mixed functioning pituitary adenoma": "ORPHA:314759", "Mixed secreting pituitary adenoma": "ORPHA:314759", "Somatomammotropinoma": "ORPHA:314769", "GH and PRL cosecreting pituitary adenoma": "ORPHA:314769", "Growth hormone and prolactin cosecreting pituitary adenoma": "ORPHA:314769", "Somatolactotropinoma": "ORPHA:314769", "Somatoprolactinoma": "ORPHA:314769", "Lethal arteriopathy syndrome due to fibulin-4 deficiency": "ORPHA:314718", "Atypical dentin dysplasia due to SMOC2 deficiency": "ORPHA:314721", "Dentin dysplasia type 1 with microdontia and shape anomalies": "ORPHA:314721", "Rare disease with adrenal Cushing syndrome as a major feature": "ORPHA:314749", "Medich giant platelet syndrome": "ORPHA:370127", "Medich macrothrombocytopenia": "ORPHA:370127", "Combined cervical dystonia": "ORPHA:370114", "Ataxia-telangiectasia variant": "ORPHA:370109", "v-AT": "ORPHA:370109", "Rare disorder with dystonia and other neurologic or systemic manifestation": "ORPHA:370106", "Primary dystonia, DYT17 type": "ORPHA:370103", "Oculocutaneous albinism type 6": "ORPHA:370097", "OCA6": "ORPHA:370097", "Oculocutaneous albinism type 5": "ORPHA:370091", "OCA5": "ORPHA:370091", "Small cell carcinoma of the ovary": "ORPHA:370396", "SCCO": "ORPHA:370396", "Small cell ovarian carcinoma": "ORPHA:370396", "Peripheral primitive neuroectodermal tumor": "ORPHA:370348", "PPNET": "ORPHA:370348", "Peripheral PNET": "ORPHA:370348", "Peripheral neuroepithelioma": "ORPHA:370348", "Extraskeletal Ewing sarcoma": "ORPHA:370334", "EOE": "ORPHA:370334", "Extraosseous Ewing sarcoma": "ORPHA:370334", "Extraosseous Ewing tumor": "ORPHA:370334", "Extraskeletal Ewing tumor": "ORPHA:370334", "White platelet syndrome": "ORPHA:370131", "Didymosis aplasticosebacea": "ORPHA:370046", "Aplasia cutis congenita-nevus sebaceus syndrome": "ORPHA:370046", "Familial syringomyelia": "ORPHA:370034", "Angora hair nevus": "ORPHA:370039", "Schauder syndrome": "ORPHA:370039", "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome": "ORPHA:370022", "Poretti-Boltshauser syndrome": "ORPHA:370022", "Acute myeloid leukemia with t(8;16)(p11;p13) translocation": "ORPHA:370026", "AML with t(8;16)(p11;p13) translocation": "ORPHA:370026", "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type": "ORPHA:370015", "SEMDIST": "ORPHA:370015", "Spondyloepimetaphyseal dysplasia with severe short stature": "ORPHA:370015", "Spondylometaphyseal dysplasia, Czarny-Ratajczak type": "ORPHA:370019", "Acute infantile liver failure-multisystemic involvement syndrome": "ORPHA:370088", "Fetal carbamazepine syndrome": "ORPHA:370076", "Proximal 16p11.2 microduplication syndrome": "ORPHA:370079", "Proximal dup(16)(p11.2)": "ORPHA:370079", "Proximal trisomy 16p11.2": "ORPHA:370079", "Fetal anticonvulsant syndrome": "ORPHA:370068", "FACS": "ORPHA:370068", "Fetal AEDS": "ORPHA:370068", "Fetal antiepileptic drug syndrome": "ORPHA:370068", "SCALP syndrome": "ORPHA:370052", "Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome": "ORPHA:370052", "Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome": "ORPHA:370052", "NEVADA syndrome": "ORPHA:370059", "Nevus epidermicus verrucosus with angiodysplasia and aneurysms": "ORPHA:370059", "OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature": "ORPHA:371054", "OBSOLETE: X-linked CDG with intellectual disability as a major feature": "ORPHA:371054", "Congenital disorder of glycosylation with neurological involvement": "ORPHA:371047", "CDG with neurological involvement": "ORPHA:371047", "Congenital disorder of glycosylation with epilepsy as a major feature": "ORPHA:371071", "CDG with epilepsy as a major feature": "ORPHA:371071", "OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature": "ORPHA:371064", "OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature": "ORPHA:371064", "Congenital muscular dystrophy with hyperlaxity": "ORPHA:371007", "CMDH": "ORPHA:371007", "Muscle-eye-brain disease with bilateral multicystic leucodystrophy": "ORPHA:370997", "MEB disease with bilateral multicystic leucodystrophy": "ORPHA:370997", "Primary qualitative or quantitative defects of alpha-dystroglycan": "ORPHA:371040", "Primary alpha-dystroglycanopathy": "ORPHA:371040", "Primary dystroglycanopathy": "ORPHA:371040", "Qualitative or quantitative defects of alpha-dystroglycan": "ORPHA:371024", "Alpha-dystroglycanopathy": "ORPHA:371024", "Dystroglycanopathy": "ORPHA:371024", "Congenital disorder of glycosylation with cardiac malformation as a major feature": "ORPHA:371183", "CDG with cardiac malformation as a major feature": "ORPHA:371183", "Congenital disorder of glycosylation with dilated cardiomyopathy": "ORPHA:371176", "CDG with dilated cardiomyopathy": "ORPHA:371176", "Congenital disorder of glycosylation-related bone disorder": "ORPHA:371195", "CDG-related bone disorder": "ORPHA:371195", "Congenital disorder of glycosylation with intestinal involvement": "ORPHA:371188", "CDG with intestinal involvement": "ORPHA:371188", "Congenital disorder of glycosylation with hepatic involvement": "ORPHA:371157", "CDG with hepatic involvement": "ORPHA:371157", "STT3A-CDG": "ORPHA:370921", "CDG syndrome type Iw": "ORPHA:370921", "CDG-Iw": "ORPHA:370921", "CDG1W": "ORPHA:370921", "Congenital disorder of glycosylation type 1w": "ORPHA:370921", "Congenital disorder of glycosylation type Iw": "ORPHA:370921", "STT3B-CDG": "ORPHA:370924", "CDG syndrome type Ix": "ORPHA:370924", "CDG-Ix": "ORPHA:370924", "CDG1X": "ORPHA:370924", "Carbohydrate deficient glycoprotein syndrome type Ix": "ORPHA:370924", "Congenital disorder of glycosylation type 1x": "ORPHA:370924", "Congenital disorder of glycosylation type Ix": "ORPHA:370924", "SSR4-CDG": "ORPHA:370927", "CDG syndrome type Iy": "ORPHA:370927", "CDG-Iy": "ORPHA:370927", "CDG1Y": "ORPHA:370927", "Carbohydrate deficient glycoprotein syndrome type Iy": "ORPHA:370927", "Congenital disorder of glycosylation type 1y": "ORPHA:370927", "Congenital disorder of glycosylation type Iy": "ORPHA:370927", "XYLT1-CDG": "ORPHA:370930", "Congenital muscular dystrophy due to dystroglycanopathy": "ORPHA:370953", "CMD due to dystroglycanopathy": "ORPHA:370953", "Congenital muscular dystrophy with cerebellar involvement": "ORPHA:370959", "CMD with cerebellar involvement": "ORPHA:370959", "CMD-CRB": "ORPHA:370959", "Congenital muscular dystrophy with intellectual disability": "ORPHA:370968", "CMD with intellectual disability": "ORPHA:370968", "CMD-MR": "ORPHA:370968", "Congenital muscular dystrophy without intellectual disability": "ORPHA:370980", "CMD without intellectual disability": "ORPHA:370980", "CMD-no MR": "ORPHA:370980", "Congenital muscular dystrophy-dystroglycanopathy without intellectual disability": "ORPHA:370980", "GM3 synthase deficiency": "ORPHA:370933", "ST3GAL5-CDG": "ORPHA:370933", "Salt-and-pepper syndrome": "ORPHA:370938", "Autism spectrum disorder-epilepsy-arthrogryposis syndrome": "ORPHA:370943", "SLC35A3-CDG": "ORPHA:370943", "Primary short bowel syndrome": "ORPHA:365563", "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome": "ORPHA:369929", "Pontocerebellar hypoplasia type 9": "ORPHA:369920", "PCH9": "ORPHA:369920", "CADDS": "ORPHA:369942", "Contiguous ABCD1 DXS1357E deletion syndrome": "ORPHA:369942", "Zellweger-like contiguous gene deletion syndrome": "ORPHA:369942", "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome": "ORPHA:369939", "Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome": "ORPHA:369939", "Methylmalonic acidemia with homocystinuria, type cblJ": "ORPHA:369955", "CblJ defects": "ORPHA:369955", "Cobalamin J defect": "ORPHA:369955", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ": "ORPHA:369955", "Methylmalonic aciduria with homocystinuria, type cblJ": "ORPHA:369955", "Intellectual disability-seizures-macrocephaly-obesity syndrome": "ORPHA:369950", "Der(8)t(8;12)": "ORPHA:369950", "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome": "ORPHA:369970", "MMCAT syndrome": "ORPHA:369970", "Methylmalonic acidemia with homocystinuria, type cblX": "ORPHA:369962", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX": "ORPHA:369962", "Methylmalonic aciduria with homocystinuria, type cblX": "ORPHA:369962", "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome": "ORPHA:369979", "Severe dermatitis-multiple allergies-metabolic wasting syndrome": "ORPHA:369992", "Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome": "ORPHA:369992", "SAM syndrome": "ORPHA:369992", "Focal palmoplantar keratoderma with joint keratoses": "ORPHA:370002", "Diffuse palmoplantar keratoderma with painful fissures": "ORPHA:369999", "Intellectual disability-facial dysmorphism-hand anomalies syndrome": "ORPHA:370010", "Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome": "ORPHA:370006", "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome": "ORPHA:369837", "Congenital disorder of glycosylation due to PIGT deficiency": "ORPHA:369837", "MCAHS type 3": "ORPHA:369837", "Multiple congenital anomalies-hypotonia-seizures syndrome type 3": "ORPHA:369837", "PIGT-CDG": "ORPHA:369837", "TRAPPC11-related limb-girdle muscular dystrophy R18": "ORPHA:369840", "Autosomal recessive limb-girdle muscular dystrophy type 2S": "ORPHA:369840", "LGMD type 2S": "ORPHA:369840", "LGMD2S": "ORPHA:369840", "Limb-girdle muscular dystrophy type 2S": "ORPHA:369840", "TRAPPC11-related LGMD R18": "ORPHA:369840", "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome": "ORPHA:369847", "Congenital neutropenia-myelofibrosis-nephromegaly syndrome": "ORPHA:369852", "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome": "ORPHA:369852", "VPS45 deficiency": "ORPHA:369852", "Vacuolar sorting protein 45 deficiency": "ORPHA:369852", "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome": "ORPHA:369861", "SIFD syndrome": "ORPHA:369861", "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C": "ORPHA:369867", "RI-CMT type C": "ORPHA:369867", "Obesity due to SIM1 deficiency": "ORPHA:369873", "2p21 microdeletion syndrome without cystinuria": "ORPHA:369881", "Del(2)(p21) without cystinuria": "ORPHA:369881", "Homozygous 2p21 microdeletion syndrome": "ORPHA:369886", "2p21 contiguous gene deletion syndrome": "ORPHA:369886", "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency": "ORPHA:369891", "MED13L-related intellectual disability syndrome": "ORPHA:369891", "OBSOLETE: Early infantile epileptic encephalopathy without suppression burst": "ORPHA:369894", "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies": "ORPHA:369897", "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies": "ORPHA:369897", "OBSOLETE: DDX59-related orofaciodigital syndrome": "ORPHA:369902", "Combined oxidative phosphorylation defect type 17": "ORPHA:369913", "COXPD17": "ORPHA:369913", "Infantile epileptic-dyskinetic encephalopathy": "ORPHA:364063", "Severe early-childhood-onset retinal dystrophy": "ORPHA:364055", "EOSRD": "ORPHA:364055", "Early-onset severe retinal dystrophy": "ORPHA:364055", "SECORD": "ORPHA:364055", "Hydroa vacciniforme-like lymphoma": "ORPHA:364039", "Angiocentric cutaneous T-cell lymphoma of childhood": "ORPHA:364039", "HVLL": "ORPHA:364039", "Hydroa-like cutaneous T-cell lymphoma": "ORPHA:364039", "ALK-positive large B-cell lymphoma": "ORPHA:364043", "ALK+ LBCL": "ORPHA:364043", "ALK+ large B-cell lymphoma": "ORPHA:364043", "X-linked intellectual disability due to GRIA3 mutations": "ORPHA:364028", "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood": "ORPHA:364033", "Systemic EBV+ T-cell LPD of childhood": "ORPHA:364033", "Systemic EBV-positive T-cell lymphoproliferative disease of childhood": "ORPHA:364033", "Infantile Refsum disease": "ORPHA:772", "IRD": "ORPHA:772", "Mild PBD-ZSD": "ORPHA:772", "Mild peroxisome biogenesis disorder-Zellweger spectrum disorder": "ORPHA:772", "TMEM70-related mitochondrial encephalo-cardio-myopathy": "ORPHA:1194", "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency": "ORPHA:1194", "Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency": "ORPHA:1194", "Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency": "ORPHA:1194", "Non-immune hydrops fetalis": "ORPHA:363999", "NIHF": "ORPHA:363999", "Non-immune HF": "ORPHA:363999", "Non-immune fetal edema": "ORPHA:363999", "Non-immune fetal hydrops": "ORPHA:363999", "Isolated anencephaly/exencephaly": "ORPHA:1048", "Immune hydrops fetalis": "ORPHA:364013", "IHF": "ORPHA:364013", "Immune HF": "ORPHA:364013", "Immune fetal edema": "ORPHA:364013", "Immune fetal hydrops": "ORPHA:364013", "Familial benign flecked retina": "ORPHA:363989", "Spina bifida and other spinal dysraphisms": "ORPHA:823", "Isolated spina bifida": "ORPHA:823", "Isolated spinal dysraphism": "ORPHA:823", "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome": "ORPHA:363992", "15q26.3 microdeletion syndrome": "ORPHA:363992", "Giant cell tumor of bone": "ORPHA:363976", "GCT of bone": "ORPHA:363976", "Osteoclastoma": "ORPHA:363976", "Charcot-Marie-Tooth disease type 4B3": "ORPHA:363981", "CMT4B3": "ORPHA:363981", "Charcot-Marie-Tooth disease with focally folded myelin": "ORPHA:363981", "Autosomal recessive cerebral atrophy": "ORPHA:363969", "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia": "ORPHA:363972", "CBL syndrome": "ORPHA:363972", "Noonan syndrome-like disorder with JMML": "ORPHA:363972", "Koolen-De Vries syndrome due to a point mutation": "ORPHA:363965", "17q21.31 microdeletion syndrome": "ORPHA:363958", "Del(17)(q21.31)": "ORPHA:363958", "Monosomy 17q21.31": "ORPHA:363958", "Balint syndrome": "ORPHA:363746", "Balint-Holmes syndrome": "ORPHA:363746", "Optic ataxia-gaze apraxia-simultanagnosia syndrome": "ORPHA:363746", "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome": "ORPHA:363741", "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia": "ORPHA:363727", "Alexander disease type II": "ORPHA:363722", "AxD type II": "ORPHA:363722", "Alexander disease type I": "ORPHA:363717", "AxD type I": "ORPHA:363717", "Spinocerebellar ataxia type 37": "ORPHA:363710", "SCA37": "ORPHA:363710", "Spinocerebellar ataxia with altered vertical eye movements": "ORPHA:363710", "Craniofaciofrontodigital syndrome": "ORPHA:363705", "Cantu craniofaciofrontodigital syndrome": "ORPHA:363705", "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion": "ORPHA:363700", "Von Recklinghausen disease due to NF1 mutation or intragenic deletion": "ORPHA:363700", "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome": "ORPHA:363694", "HUPRA syndrome": "ORPHA:363694", "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome": "ORPHA:363686", "2p13.2 microdeletion syndrome": "ORPHA:363680", "Del(2)(p13.2)": "ORPHA:363680", "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia": "ORPHA:363677", "Rare bone disease related to a common gene or pathway defect": "ORPHA:364803", "OBSOLETE: Aggrecan-related bone disorder": "ORPHA:364817", "TRPV4-related bone disorder": "ORPHA:364820", "Acrofacial dysostosis": "ORPHA:364574", "Dysostosis with limb and face anomalies as a major feature": "ORPHA:364571", "Intellectual disability-brachydactyly-Pierre Robin syndrome": "ORPHA:364577", "Dysostosis": "ORPHA:364559", "Otopalatodigital syndrome spectrum disorder": "ORPHA:364541", "OPD spectrum disorder": "ORPHA:364541", "OPSD": "ORPHA:364541", "Dysostosis with limb anomaly as a major feature": "ORPHA:364568", "Primary bone dysplasia": "ORPHA:364526", "Primary osteodysplasia": "ORPHA:364526", "Primary skeletal dysplasia": "ORPHA:364526", "Primary bone dysplasia with micromelia": "ORPHA:364536", "Primary osteodysplasia with micromelia": "ORPHA:364536", "Primary skeletal dysplasia with micromelia": "ORPHA:364536", "Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments": "ORPHA:364531", "Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments": "ORPHA:364531", "Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments": "ORPHA:364531", "Bipartite talus": "ORPHA:364198", "Temtamy preaxial brachydactyly syndrome": "ORPHA:363417", "Fetal akinesia-cerebral and retinal hemorrhage syndrome": "ORPHA:363409", "LCCS5": "ORPHA:363409", "Lethal congenital contracture syndrome type 5": "ORPHA:363409", "Hypomyelination with brain stem and spinal cord involvement and leg spasticity": "ORPHA:363412", "HBSL": "ORPHA:363412", "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome": "ORPHA:363429", "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency": "ORPHA:363432", "Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency": "ORPHA:363432", "SCAR18": "ORPHA:363432", "Multiple mitochondrial dysfunctions syndrome type 3": "ORPHA:363424", "IBA57 deficiency": "ORPHA:363424", "MMDS3": "ORPHA:363424", "Genetic intestinal polyposis": "ORPHA:363314", "Familial intestinal polyposis": "ORPHA:363314", "Genetic intractable diarrhea of infancy": "ORPHA:363300", "Genetic intestinal disease due to fat malabsorption": "ORPHA:363306", "High myopia-sensorineural deafness syndrome": "ORPHA:363396", "High myopia-sensorineural hearing loss syndrome": "ORPHA:363396", "Severe neurodegenerative syndrome with lipodystrophy": "ORPHA:363400", "Severe neurodegenerative syndrome due to BSCL2 deficiency": "ORPHA:363400", "OBSOLETE: Rare hereditary iron overload disease": "ORPHA:363266", "Ciliopathy": "ORPHA:363250", "Genetic syndromic Pierre Robin syndrome": "ORPHA:363294", "Genetic progeroid syndrome": "ORPHA:363245", "Ring chromosome syndrome": "ORPHA:363203", "Congenital anomaly of the great veins": "ORPHA:363189", "LMNA-related cardiocutaneous progeria syndrome": "ORPHA:363618", "LCPS": "ORPHA:363618", "GMPPB-related limb-girdle muscular dystrophy R19": "ORPHA:363623", "Autosomal recessive limb-girdle muscular dystrophy type 2T": "ORPHA:363623", "GMPPB-related LGMD R19": "ORPHA:363623", "LGMD type 2T": "ORPHA:363623", "LGMD2T": "ORPHA:363623", "Limb-girdle muscular dystrophy type 2T": "ORPHA:363623", "OBSOLETE: GMPPB-related congenital muscular dystrophy": "ORPHA:363629", "OBSOLETE: GMPPB-related CMD": "ORPHA:363629", "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome": "ORPHA:363649", "MDP syndrome": "ORPHA:363649", "MDPL syndrome": "ORPHA:363649", "Mandibular hypoplasia-hearing loss-progeroid syndrome": "ORPHA:363649", "X-linked parkinsonism-spasticity syndrome": "ORPHA:363654", "XPDS": "ORPHA:363654", "20q11.2 microduplication syndrome": "ORPHA:363659", "Dup(20)(q11.2)": "ORPHA:363659", "Acroosteolysis-keloid-like lesions-premature aging syndrome": "ORPHA:363665", "Premature aging syndrome, Penttinen type": "ORPHA:363665", "Leukoencephalopathy with mild cerebellar ataxia and white matter edema": "ORPHA:363540", "Autosomal recessive limb-girdle muscular dystrophy type 2R": "ORPHA:363543", "Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency": "ORPHA:363543", "LGMD2R": "ORPHA:363543", "Acute encephalopathy with biphasic seizures and late reduced diffusion": "ORPHA:363549", "AESD": "ORPHA:363549", "AIEF": "ORPHA:363549", "Acute infantile encephalopathy predominantly affecting the frontal lobes": "ORPHA:363549", "New-onset refractory status epilepticus": "ORPHA:363558", "NORSE": "ORPHA:363558", "Acute encephalopathy with inflammation-mediated status epilepticus": "ORPHA:363567", "Extragonadal germ cell tumor": "ORPHA:363579", "Gonadal germ cell tumor": "ORPHA:363582", "CTCF-related neurodevelopmental disorder": "ORPHA:363611", "Germ cell tumor of testis": "ORPHA:363504", "Testicular germ cell tumor": "ORPHA:363504", "Non-seminomatous germ cell tumor of testis": "ORPHA:363494", "Non-dysgerminomatous germ cell tumor of testis": "ORPHA:363494", "Testicular non seminomatous germ cell tumor": "ORPHA:363494", "Testicular non-dysgerminomatous germ cell tumor": "ORPHA:363494", "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome": "ORPHA:363523", "Shaheen syndrome": "ORPHA:363523", "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form": "ORPHA:363534", "mtDNA depletion syndrome, hepatocerebrorenal form": "ORPHA:363534", "Intellectual disability-strabismus syndrome": "ORPHA:363528", "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome": "ORPHA:363444", "BBIS": "ORPHA:363444", "Beaulieu-Boycott-Innes syndrome": "ORPHA:363444", "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy": "ORPHA:363454", "BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures": "ORPHA:363454", "SMALED2": "ORPHA:363454", "Autosomal dominant childhood-onset proximal spinal muscular atrophy": "ORPHA:363447", "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy": "ORPHA:363447", "SMALED": "ORPHA:363447", "Paratesticular adenocarcinoma": "ORPHA:363478", "Adenocarcinoma of the paratestis": "ORPHA:363478", "Tumor of testis and paratestis": "ORPHA:363472", "Testicular and paratesticular tumor": "ORPHA:363472", "Sex cord-stromal tumor of testis": "ORPHA:363489", "Testicular sex cord-stromal tumor": "ORPHA:363489", "Testicular teratoma": "ORPHA:363483", "Teratoma of the testis": "ORPHA:363483", "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome": "ORPHA:357175", "Combined immunodeficiency due to IL21R deficiency": "ORPHA:357329", "CID due to IL21R deficiency": "ORPHA:357329", "Combined immunodeficiency due to interleukin 21 receptor deficiency": "ORPHA:357329", "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome": "ORPHA:357332", "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome": "ORPHA:357332", "Wahab syndrome": "ORPHA:357332", "Primary essential cutis verticis gyrata": "ORPHA:357220", "Primary non-essential cutis verticis gyrata": "ORPHA:357225", "Combined immunodeficiency due to CARD11 deficiency": "ORPHA:357237", "CID due to CARD11 deficiency": "ORPHA:357237", "Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency": "ORPHA:357237", "Genetic non-syndromic renal or urinary tract malformation": "ORPHA:357506", "Idiopathic nephrotic syndrome": "ORPHA:357502", "D,L-2-hydroxyglutaric aciduria": "ORPHA:356978", "Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia": "ORPHA:356978", "Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria": "ORPHA:356978", "D,L-2-HGA": "ORPHA:356978", "D,L-2-hydroxyglutaric acidemia": "ORPHA:356978", "3q26q27 microdeletion syndrome": "ORPHA:356947", "Del(3)(q26q27)": "ORPHA:356947", "Monosomy 3q26q27": "ORPHA:356947", "SLC35A2-CDG": "ORPHA:356961", "CDG syndrome type IIm": "ORPHA:356961", "CDG-IIm": "ORPHA:356961", "CDG2M": "ORPHA:356961", "Congenital disorder of glycosylation type 2m": "ORPHA:356961", "Congenital disorder of glycosylation type IIm": "ORPHA:356961", "Hemolytic uremic syndrome with DGKE deficiency": "ORPHA:357008", "HUS with DGKE deficiency": "ORPHA:357008", "19p13.13 microdeletion syndrome": "ORPHA:357001", "Del(19)(p13.13)": "ORPHA:357001", "Monosomy 19p13.13": "ORPHA:357001", "ANK3-related intellectual disability-sleep disturbance syndrome": "ORPHA:356996", "Amyotrophic lateral sclerosis type 4": "ORPHA:357043", "ALS4": "ORPHA:357043", "Distal hereditary motor neuropathy with upper motor neuron signs": "ORPHA:357043", "dHMN with upper motor neuron signs": "ORPHA:357043", "Non-hereditary retinoblastoma": "ORPHA:357034", "Hereditary retinoblastoma": "ORPHA:357027", "Autosomal recessive cutis laxa type 2, classic type": "ORPHA:357074", "ARCL2, Debr\u00e9 type": "ORPHA:357074", "ARCL2, classic type": "ORPHA:357074", "Autosomal recessive cutis laxa type 2, Debr\u00e9 type": "ORPHA:357074", "Autosomal recessive cutis laxa type 2B": "ORPHA:357064", "ARCL2, progeroid type": "ORPHA:357064", "ARCL2B": "ORPHA:357064", "Autosomal recessive cutis laxa type 2, progeroid type": "ORPHA:357064", "Autosomal recessive cutis laxa type 2A": "ORPHA:357058", "ARCL2A": "ORPHA:357058", "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome": "ORPHA:357158", "Macroblepharon-ectropion-hypertelorism-macrostomia syndrome": "ORPHA:357158", "Oral submucous fibrosis": "ORPHA:357154", "OSMF": "ORPHA:357154", "Venous thoracic outlet syndrome": "ORPHA:357131", "Effort subclavian vein thrombosis": "ORPHA:357131", "Paget-Schrotter disease": "ORPHA:357131", "VTOS": "ORPHA:357131", "Venous TOS": "ORPHA:357131", "Venous cervical rib syndrome": "ORPHA:357131", "Venous costoclavicular syndrome": "ORPHA:357131", "Venous hyperabduction syndrome": "ORPHA:357131", "Venous scalenus anticus syndrome": "ORPHA:357131", "Venous thoracic outlet compression syndrome": "ORPHA:357131", "Arterial thoracic outlet syndrome": "ORPHA:357107", "ATOS": "ORPHA:357107", "Arterial TOS": "ORPHA:357107", "Arterial cervical rib syndrome": "ORPHA:357107", "Arterial costoclavicular syndrome": "ORPHA:357107", "Arterial hyperabduction syndrome": "ORPHA:357107", "Arterial scalenus anticus syndrome": "ORPHA:357107", "Arterial thoracic outlet compression syndrome": "ORPHA:357107", "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome": "ORPHA:352654", "Autosomal recessive spastic paraplegia type 79": "ORPHA:352654", "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome": "ORPHA:352662", "Hereditary benign intraepithelial dyskeratosis": "ORPHA:352657", "HBID": "ORPHA:352657", "Hereditary benign corneal intraepithelial dyskeratosis": "ORPHA:352657", "Autosomal recessive cerebellar ataxia with late-onset spasticity": "ORPHA:352641", "Autosomal recessive cerebellar ataxia due to GBA2 deficiency": "ORPHA:352641", "Phalangeal microgeodic syndrome": "ORPHA:352636", "Phalangeal osteolysis": "ORPHA:352636", "Brain dopamine-serotonin vesicular transport disease": "ORPHA:352649", "Progressive myoclonic epilepsy with dystonia": "ORPHA:352596", "PMED": "ORPHA:352596", "Progressive myoclonus epilepsy with dystonia": "ORPHA:352596", "16q24.1 microdeletion syndrome": "ORPHA:352629", "Del(16)(q24.1)": "ORPHA:352629", "Monosomy 16q24.1": "ORPHA:352629", "Male infertility due to NANOS1 mutation": "ORPHA:352613", "Bainbridge-Ropers syndrome": "ORPHA:352577", "Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome": "ORPHA:352577", "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation": "ORPHA:352587", "Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome": "ORPHA:352587", "Familial infantile myoclonic epilepsy": "ORPHA:352582", "FIME": "ORPHA:352582", "Familial infantile myoclonus epilepsy": "ORPHA:352582", "Disorder of melanin metabolism": "ORPHA:352728", "Oculocutaneous albinism type 1": "ORPHA:352731", "OCA1": "ORPHA:352731", "Minimal pigment oculocutaneous albinism type 1": "ORPHA:352734", "MP OCA type 1": "ORPHA:352734", "OCA1-MP": "ORPHA:352734", "Temperature-sensitive oculocutaneous albinism type 1": "ORPHA:352737", "OCA1-TS": "ORPHA:352737", "TS OCA type 1": "ORPHA:352737", "CLN13 disease": "ORPHA:352709", "Kufs type B disease": "ORPHA:352709", "Neuronal ceroid lipofuscinosis type 13": "ORPHA:352709", "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome": "ORPHA:352712", "FILS syndrome": "ORPHA:352712", "Progressive retinal dystrophy due to retinol transport defect": "ORPHA:352718", "Retinol dystrophy-iris coloboma-comedogenic acne syndrome": "ORPHA:352718", "Attenuated Ch\u00e9diak-Higashi syndrome": "ORPHA:352723", "Atypical Ch\u00e9diak-Higashi syndrome": "ORPHA:352723", "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies": "ORPHA:352687", "Lissencephaly type 2 with muscular and ocular involvement": "ORPHA:352687", "MDDGA": "ORPHA:352687", "OBSOLETE: Cobblestone lissencephaly type A": "ORPHA:352694", "OBSOLETE: Lissencephaly type 2A": "ORPHA:352694", "OBSOLETE: Cobblestone lissencephaly type C": "ORPHA:352699", "OBSOLETE: Lissencephaly type 2C": "ORPHA:352699", "OBSOLETE: Cobblestone lissencephaly type B": "ORPHA:352704", "OBSOLETE: Lissencephaly type 2B": "ORPHA:352704", "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion": "ORPHA:352665", "9q21.3 microdeletion syndrome": "ORPHA:352665", "Del(9)(q21.3)": "ORPHA:352665", "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F": "ORPHA:352670", "CMTDIF": "ORPHA:352670", "X-linked Charcot-Marie-Tooth disease type 6": "ORPHA:352675", "CMT6X": "ORPHA:352675", "CMTX6": "ORPHA:352675", "Cobblestone lissencephaly without muscular or ocular involvement": "ORPHA:352682", "Cobblestone lissencephaly without muscular or eye involvement": "ORPHA:352682", "Lissencephaly type 2 without muscular or eye involvement": "ORPHA:352682", "Lissencephaly type 2 without muscular or ocular involvement": "ORPHA:352682", "Rubinstein-Taybi syndrome due to CREBBP mutations": "ORPHA:353277", "Burning mouth syndrome": "ORPHA:353253", "BMS": "ORPHA:353253", "Oral dysesthesia": "ORPHA:353253", "Orodynia": "ORPHA:353253", "Stomatodynia": "ORPHA:353253", "Stomatopyrosis": "ORPHA:353253", "NON RARE IN EUROPE: Primary adult open-angle glaucoma": "ORPHA:353225", "NON RARE IN EUROPE: POAG": "ORPHA:353225", "Familial primary localized cutaneous amyloidosis": "ORPHA:353220", "FPLCA": "ORPHA:353220", "Epileptic encephalopathy with global cerebral demyelination": "ORPHA:353217", "AGC1 deficiency": "ORPHA:353217", "Mitochondrial aspartate-glutamate carrier 1 deficiency": "ORPHA:353217", "Scleredema": "ORPHA:352763", "Buschke scleredema": "ORPHA:352763", "Oculocutaneous albinism type 7": "ORPHA:352745", "OCA7": "ORPHA:352745", "Ocular albinism with congenital sensorineural deafness": "ORPHA:352740", "Ocular albinism with congenital sensorineural hearing loss": "ORPHA:352740", "Waardenburg syndrome type 2 with ocular albinism": "ORPHA:352740", "Vasoproliferative tumor of the retina": "ORPHA:353356", "Retinal vasoproliferative tumor": "ORPHA:353356", "VPTR": "ORPHA:353356", "Vasoproliferative tumor of the ocular fundus": "ORPHA:353356", "Idiopathic macular telangiectasia type 1": "ORPHA:353344", "Aneurysmal telangiectasia": "ORPHA:353344", "Visible and exudative idiopathic juxtafoveolar retinal telangiectasis": "ORPHA:353344", "Idiopathic macular telangiectasia type 3": "ORPHA:353351", "Occlusive idiopathic juxtafoveolar retinal telangiectasis": "ORPHA:353351", "Congenital retinal arteriovenous communication": "ORPHA:353334", "Congenital arteriovenous anastomoses of the retina": "ORPHA:353334", "Congenital arteriovenous communication of the retina": "ORPHA:353334", "Congenital retinal arteriovenous anastomoses": "ORPHA:353334", "Pyruvate carboxylase deficiency, benign type": "ORPHA:353320", "Pyruvate carboxylase deficiency type C": "ORPHA:353320", "Congenital myasthenic syndromes with glycosylation defect": "ORPHA:353327", "Pyruvate carboxylase deficiency, infantile type": "ORPHA:353308", "Pyruvate carboxylase deficiency type A": "ORPHA:353308", "Pyruvate carboxylase deficiency, severe neonatal type": "ORPHA:353314", "Pyruvate carboxylase deficiency type B": "ORPHA:353314", "Roifman syndrome": "ORPHA:353298", "Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome": "ORPHA:353298", "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion": "ORPHA:353281", "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency": "ORPHA:353284", "OBSOLETE: Genetic muscular channelopathy": "ORPHA:352298", "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis": "ORPHA:352301", "Spectrin-associated autosomal recessive cerebellar ataxia": "ORPHA:352403", "Autosomal recessive spinocerebellar ataxia type 14": "ORPHA:352403", "Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome": "ORPHA:352403", "SCAR14": "ORPHA:352403", "SPARCA": "ORPHA:352403", "SPARCA1": "ORPHA:352403", "Spectrin-associated autosomal recessive cerebellar ataxia type 1": "ORPHA:352403", "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome": "ORPHA:352333", "Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome": "ORPHA:352333", "ELOVL4-related neuro ichthyosis": "ORPHA:352333", "MEGDEL syndrome": "ORPHA:352328", "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome": "ORPHA:352328", "3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome": "ORPHA:352328", "Progressive external ophthalmoplegia-myopathy-emaciation syndrome": "ORPHA:352447", "Mitochondrial DNA maintenance syndrome due to MGME1 deficiency": "ORPHA:352447", "PEO-myopathy-emaciation syndrome": "ORPHA:352447", "mtDNA maintenance syndrome due to MGME1 deficiency": "ORPHA:352447", "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement": "ORPHA:352312", "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement": "ORPHA:352309", "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement": "ORPHA:352306", "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome": "ORPHA:352530", "Autosomal recessive intellectual disability due to TRAPPC9 deficiency": "ORPHA:352530", "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency": "ORPHA:352563", "COXPD16": "ORPHA:352563", "Combined oxidative phosphorylation defect type 16": "ORPHA:352563", "Oncogenic osteomalacia": "ORPHA:352540", "Oncogenic hypophosphatemic osteomalacia": "ORPHA:352540", "TIO": "ORPHA:352540", "Tumor-induced osteomalacia": "ORPHA:352540", "ISPD-related limb-girdle muscular dystrophy R20": "ORPHA:352479", "Autosomal recessive limb-girdle muscular dystrophy type 2U": "ORPHA:352479", "ISPD-related LGMD R20": "ORPHA:352479", "LGMD type 2U": "ORPHA:352479", "LGMD2U": "ORPHA:352479", "Limb-girdle muscular dystrophy type 2U": "ORPHA:352479", "OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement": "ORPHA:352482", "OBSOLETE: Autosomal recessive LGMD with cerebellar involvement": "ORPHA:352482", "Mitochondrial DNA maintenance syndrome": "ORPHA:352456", "mtDNA maintenance syndrome": "ORPHA:352456", "DNA2-related mitochondrial DNA deletion syndrome": "ORPHA:352470", "Mitochondrial DNA deletion syndrome with limb-girdle weakness": "ORPHA:352470", "Mitochondrial DNA deletion syndrome with progressive myopathy": "ORPHA:352470", "mtDNA deletion syndrome with limb-girdle weakness": "ORPHA:352470", "mtDNA deletion syndrome with progressive myopathy": "ORPHA:352470", "OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency": "ORPHA:352497", "OBSOLETE: Levodopa-unresponsive juvenile parkinsonism": "ORPHA:352504", "OBSOLETE: L-DOPA-unresponsive juvenile parkinsonism": "ORPHA:352504", "Digital anomalies-intellectual disability-short stature syndrome": "ORPHA:352487", "Autism spectrum disorder due to AUTS2 deficiency": "ORPHA:352490", "ASD due to AUTS2 deficiency": "ORPHA:352490", "AUTS2 syndrome": "ORPHA:352490", "Congenital joint dislocations": "ORPHA:294951", "Non-syndromic joint formation defects": "ORPHA:294949", "Syndrome with limb reduction defects": "ORPHA:294955", "Non-syndromic limb overgrowth": "ORPHA:294953", "OBSOLETE: Postaxial polydactyly of fingers": "ORPHA:294942", "OBSOLETE: Postaxial polydactyly of hand": "ORPHA:294942", "OBSOLETE: Preaxial polydactyly of fingers": "ORPHA:294939", "OBSOLETE: Preaxial polydactyly of hand": "ORPHA:294939", "Congenital deformities of fingers": "ORPHA:294947", "Congenital deformities of limbs": "ORPHA:294944", "OBSOLETE: Adactyly of hand": "ORPHA:294931", "OBSOLETE: Fingers absent": "ORPHA:294931", "OBSOLETE: Brachydactyly": "ORPHA:294937", "OBSOLETE: Split hand or/and split foot malformation": "ORPHA:294935", "Non-syndromic amelia": "ORPHA:294925", "OBSOLETE: Terminal limb defects": "ORPHA:294929", "OBSOLETE: Terminal meromelia": "ORPHA:294929", "Non-syndromic intercalary limb defects": "ORPHA:294927", "Non-syndromic intercalary meromelia": "ORPHA:294927", "Renal-hepatic-pancreatic dysplasia": "ORPHA:294415", "Ivemark II syndrome": "ORPHA:294415", "Renohepaticopancreatic dysplasia": "ORPHA:294415", "Chronic intestinal failure": "ORPHA:294422", "CIF": "ORPHA:294422", "Reunion Island Larsen-like syndrome": "ORPHA:294049", "Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome": "ORPHA:294049", "Rare nevus": "ORPHA:294057", "Multiple pterygium syndrome": "ORPHA:294060", "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome": "ORPHA:293987", "ROHHAD": "ORPHA:293987", "ROHHADNET": "ORPHA:293987", "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome": "ORPHA:293987", "Microcephaly-capillary malformation syndrome": "ORPHA:294016", "MIC-CAP syndrome": "ORPHA:294016", "MIC-CM syndrome": "ORPHA:294016", "Microcephaly-cutaneous capillary malformation syndrome": "ORPHA:294016", "Neonatal inflammatory skin and bowel disease": "ORPHA:294023", "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication": "ORPHA:294026", "Syndactyly-nystagmus syndrome due to dup(2)(q31.1)": "ORPHA:294026", "Syndactyly-nystagmus syndrome due to trisomy 2q31.1": "ORPHA:294026", "Hypoinsulinemic hypoglycemia and body hemihypertrophy": "ORPHA:293964", "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome": "ORPHA:293967", "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome": "ORPHA:293967", "Deficiency in anterior pituitary function-variable immunodeficiency syndrome": "ORPHA:293978", "DAVID syndrome": "ORPHA:293978", "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome": "ORPHA:293958", "HPPD": "ORPHA:293958", "Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome": "ORPHA:293958", "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency": "ORPHA:293955", "1p21.3 microdeletion syndrome": "ORPHA:293948", "Del(1)(p21.3)": "ORPHA:293948", "Monosomy 1p21.3": "ORPHA:293948", "Distal Xq28 microduplication syndrome": "ORPHA:293939", "Distal dup(X)q(28)": "ORPHA:293939", "Distal trisomy Xq28": "ORPHA:293939", "Int22h1/Int22h2 mediated-Xq28 microduplication syndrome": "ORPHA:293939", "EDICT syndrome": "ORPHA:293936", "Autosomal dominant keratoconus with early-onset anterior polar cataracts": "ORPHA:293936", "Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome": "ORPHA:293936", "Familial keratoconus with cataract": "ORPHA:293936", "KTCNCT": "ORPHA:293936", "Lethal occipital encephalocele-skeletal dysplasia syndrome": "ORPHA:293925", "Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant": "ORPHA:293910", "Familial isolated arrhytmogenic ventricular dysplasia, right dominant form": "ORPHA:293910", "Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant": "ORPHA:293899", "Familial isolated arrhythmogenic ventricular dysplasia, biventricular form": "ORPHA:293899", "Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant": "ORPHA:293888", "ALVC": "ORPHA:293888", "Arrhythmogenic cardiomyopathy dominant-left variant": "ORPHA:293888", "Arrhythmogenic cardiomyopathy with left ventricular involvement": "ORPHA:293888", "Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form": "ORPHA:293888", "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome": "ORPHA:293864", "Frontotemporal dementia, right temporal atrophy variant": "ORPHA:293848", "RTLA": "ORPHA:293848", "rvFTD": "ORPHA:293848", "Fatal infantile encephalopathy-pulmonary hypertension syndrome": "ORPHA:293838", "3MC syndrome": "ORPHA:293843", "Craniofacial-ulnar-renal syndrome": "ORPHA:293843", "Malpuech-Michels-Mingarelli-Carnevale syndrome": "ORPHA:293843", "Constitutional dyserythropoietic anemia": "ORPHA:293830", "MITF-related melanoma and renal cell carcinoma predisposition syndrome": "ORPHA:293822", "Congenital dyserythropoietic anemia type IV": "ORPHA:293825", "CDA IV": "ORPHA:293825", "CDA due to KLF1 mutation": "ORPHA:293825", "CDA type 4": "ORPHA:293825", "CDA type IV": "ORPHA:293825", "CDAN4": "ORPHA:293825", "Congenital dyserythropoietic anemia due to KLF1 mutation": "ORPHA:293825", "Congenital dyserythropoietic anemia type 4": "ORPHA:293825", "Fixed drug eruption": "ORPHA:293812", "Toxic dermatosis": "ORPHA:293815", "Ketamine-induced biliary dilatation": "ORPHA:293807", "Blepharophimosis-intellectual disability syndrome, Verloes type": "ORPHA:293725", "BMRS type V": "ORPHA:293725", "BMRS, Verloes type": "ORPHA:293725", "Blepharophimosis-intellectual disability syndrome type V": "ORPHA:293725", "Blepharophimosis-intellectual disability syndrome": "ORPHA:293642", "BMRS": "ORPHA:293642", "Blepharophimosis-intellectual disability syndrome, MKB type": "ORPHA:293707", "BMRS, MKB type": "ORPHA:293707", "BMRS, Maat-Kievit-Brunner type": "ORPHA:293707", "Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type": "ORPHA:293707", "X-linked Ohdo syndrome": "ORPHA:293707", "PYCR1-related De Barsy syndrome": "ORPHA:293633", "PYCR1 deficiency": "ORPHA:293633", "Pyrroline-5-carboxylate reductase 1 deficiency": "ORPHA:293633", "OBSOLETE: Ulnar hemimelia, unilateral": "ORPHA:295075", "OBSOLETE: Ulnar longitudinal meromelia, unilateral": "ORPHA:295075", "OBSOLETE: Ulnar hemimelia, bilateral": "ORPHA:295073", "OBSOLETE: Ulnar longitudinal meromelia, bilateral": "ORPHA:295073", "OBSOLETE: Tibial hemimelia, bilateral": "ORPHA:295079", "OBSOLETE: Tibial longitudinal meromelia, bilateral": "ORPHA:295079", "OBSOLETE: Tibial hemimelia, unilateral": "ORPHA:295077", "OBSOLETE: Tibial longitudinal meromelia, unilateral": "ORPHA:295077", "OBSOLETE: Fibular hemimelia, bilateral": "ORPHA:295083", "OBSOLETE: Fibular longitudinal meromelia, bilateral": "ORPHA:295083", "OBSOLETE: Fibular hemimelia, unilateral": "ORPHA:295081", "OBSOLETE: Fibular longitudinal meromelia, unilateral": "ORPHA:295081", "OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral": "ORPHA:295087", "OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral": "ORPHA:295087", "OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral": "ORPHA:295085", "OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral": "ORPHA:295085", "OBSOLETE: Amelia of lower limb, bilateral": "ORPHA:295059", "OBSOLETE: Amelia of lower limb, unilateral": "ORPHA:295057", "OBSOLETE: Humeral agenesis/hypoplasia, bilateral": "ORPHA:295063", "OBSOLETE: Humeral intercalary meromelia, bilateral": "ORPHA:295063", "OBSOLETE: Humeral agenesis/hypoplasia, unilateral": "ORPHA:295061", "OBSOLETE: Humeral intercalary meromelia, unilateral": "ORPHA:295061", "OBSOLETE: Femoral agenesis/hypoplasia, bilateral": "ORPHA:295067", "OBSOLETE: Femoral intercalary meromelia, bilateral": "ORPHA:295067", "OBSOLETE: Femoral agenesis/hypoplasia, unilateral": "ORPHA:295065", "OBSOLETE: Femoral intercalary meromelia, unilateral": "ORPHA:295065", "OBSOLETE: Radial hemimelia, bilateral": "ORPHA:295071", "OBSOLETE: Radial longitidinal meromelia, bilateral": "ORPHA:295071", "OBSOLETE: Radial hemimelia, unilateral": "ORPHA:295069", "OBSOLETE: Radial longitidinal meromelia, unilateral": "ORPHA:295069", "OBSOLETE: Patella aplasia/hypoplasia, unilateral": "ORPHA:295038", "OBSOLETE: Patella aplasia/hypoplasia, bilateral": "ORPHA:295041", "Macrodactyly of fingers": "ORPHA:295044", "Macrodactyly of hand": "ORPHA:295044", "Macrodactyly of toes": "ORPHA:295047", "Macrodactyly of foot": "ORPHA:295047", "Upper limb hypertrophy": "ORPHA:295049", "Lower limb hypertrophy": "ORPHA:295051", "OBSOLETE: Amelia of upper limb, unilateral": "ORPHA:295053", "OBSOLETE: Amelia of upper limb, bilateral": "ORPHA:295055", "Congenital pseudoarthrosis of the fibula": "ORPHA:295022", "Congenital pseudarthrosis of the fibula": "ORPHA:295022", "Congenital pseudoarthrosis of the radius": "ORPHA:295024", "Congenital pseudarthrosis of the radius": "ORPHA:295024", "Congenital pseudoarthrosis of the ulna": "ORPHA:295026", "Congenital pseudarthrosis of the ulna": "ORPHA:295026", "Isolated tibio-fibular synostosis": "ORPHA:295028", "Isolated congenital tibiofibular fusion": "ORPHA:295028", "True congenital shoulder dislocation": "ORPHA:295030", "Isolated congenital radial head dislocation": "ORPHA:295032", "Isolated congenital elbow dislocation": "ORPHA:295032", "Congenital knee dislocation": "ORPHA:295034", "Congenital patella dislocation": "ORPHA:295036", "Syndactyly type 6": "ORPHA:295012", "Mitten hand": "ORPHA:295012", "Syndactyly, mitten type": "ORPHA:295012", "Unilateral syndactyly of digits 2-5": "ORPHA:295012", "OBSOLETE: Central polydactyly of toes": "ORPHA:295010", "OBSOLETE: Central polydactyly of foot": "ORPHA:295010", "OBSOLETE: Mesoaxial polydactyly of toes": "ORPHA:295010", "OBSOLETE: Mirror foot": "ORPHA:295010", "OBSOLETE: Postaxial polydactyly of toes": "ORPHA:295008", "OBSOLETE: Postaxial polydactyly of foot": "ORPHA:295008", "OBSOLETE: Preaxial polydactyly of toes": "ORPHA:295006", "OBSOLETE: Bifid great toes": "ORPHA:295006", "OBSOLETE: Bifid halluces": "ORPHA:295006", "OBSOLETE: Bifid hallux": "ORPHA:295006", "OBSOLETE: Preaxial polydactyly of foot": "ORPHA:295006", "Congenital pseudoarthrosis of the femur": "ORPHA:295020", "Congenital pseudarthrosis of the femur": "ORPHA:295020", "Congenital pseudoarthrosis of the tibia": "ORPHA:295018", "Congenital pseudarthrosis of the tibia": "ORPHA:295018", "Camptodactyly of fingers": "ORPHA:295016", "Familial isolated clinodactyly of fingers": "ORPHA:295014", "OBSOLETE: Brachydactyly of fingers": "ORPHA:294996", "OBSOLETE: Short fingers": "ORPHA:294996", "OBSOLETE: Split foot": "ORPHA:294994", "OBSOLETE: Split hand": "ORPHA:294992", "OBSOLETE: Ectrodactyly of hand": "ORPHA:294992", "OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb": "ORPHA:294990", "OBSOLETE: Digits 2-5 hypodactyly": "ORPHA:294990", "OBSOLETE: Digits 2-5 oligodactyly": "ORPHA:294990", "Central polydactyly": "ORPHA:295004", "Mesoaxial polydactyly": "ORPHA:295004", "Isolated hyperphalangy": "ORPHA:295002", "Isolated congenital supernumerary phalanges": "ORPHA:295002", "Supernumerary phalanx": "ORPHA:295002", "Amniotic band syndrome": "ORPHA:295000", "ABS": "ORPHA:295000", "Amniotic band sequence": "ORPHA:295000", "Congenital constriction ring syndrome": "ORPHA:295000", "Congenital ring constrictions": "ORPHA:295000", "Constriction band syndrome": "ORPHA:295000", "Streeter dysplasia": "ORPHA:295000", "OBSOLETE: Brachydactyly of toes": "ORPHA:294998", "OBSOLETE: Short toes": "ORPHA:294998", "Isolated absence of thigh and lower leg with foot present": "ORPHA:294977", "Isolated congenital femoro-tibio-fibular intercalary transverse meromelia": "ORPHA:294977", "Isolated absence of both forearm and hand": "ORPHA:294979", "Isolated congenital radio-ulnar terminal transverse meromelia": "ORPHA:294979", "Isolated humeral agenesis/hypoplasia": "ORPHA:294973", "Isolated congenital absence of humerus": "ORPHA:294973", "Isolated congenital humeral deficiency": "ORPHA:294973", "Isolated congenital hypoplasia of humerus": "ORPHA:294973", "Isolated humeral intercalary meromelia": "ORPHA:294973", "Isolated absence of upper arm and forearm with hand present": "ORPHA:294975", "Isolated congenital humero-radio-ulnar intercalary transverse meromelia": "ORPHA:294975", "Isolated apodia": "ORPHA:294986", "Isolated congenital absence of foot": "ORPHA:294986", "Isolated hypoplasia of thumb": "ORPHA:294988", "Isolated congenital absence/hypoplasia of thumb": "ORPHA:294988", "Isolated congenital thumb hypodactyly": "ORPHA:294988", "Isolated congenital thumb oligodactyly": "ORPHA:294988", "Isolated absence of both lower leg and foot": "ORPHA:294981", "Isolated congenital tibiofibular terminal transverse meromelia": "ORPHA:294981", "Isolated acheiria": "ORPHA:294983", "Isolated congenital absence of hand": "ORPHA:294983", "OBSOLETE: Syndromes with synostoses of limbs": "ORPHA:294961", "Popliteal pterygium syndrome": "ORPHA:294963", "Dysostosis with combined reduction defects of upper and lower limbs": "ORPHA:294957", "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy": "ORPHA:294959", "Isolated amelia of lower limb": "ORPHA:294969", "Isolated congenital absence of lower limb": "ORPHA:294969", "Isolated tetra-amelia": "ORPHA:294971", "Isolated total amelia": "ORPHA:294971", "Lethal congenital contracture syndrome": "ORPHA:294965", "LCCS": "ORPHA:294965", "Isolated amelia of upper limb": "ORPHA:294967", "Isolated congenital absence of upper limb": "ORPHA:294967", "Autoinflammatory syndrome with skin involvement": "ORPHA:290842", "Rare head and neck tumor": "ORPHA:290849", "Hypermethioninemia due to glycine N-methyltransferase deficiency": "ORPHA:289891", "Glycine N-methyltransferase deficiency": "ORPHA:289891", "Hypermethioninemia due to GNMT deficiency": "ORPHA:289891", "3-methylglutaconic aciduria": "ORPHA:289902", "Organic aciduria": "ORPHA:289899", "Disorder of proline metabolism": "ORPHA:289866", "Atypical glycine encephalopathy": "ORPHA:289863", "Atypical NKA": "ORPHA:289863", "Atypical non-ketotic hyperglycinemia": "ORPHA:289863", "Transient hyperammonemia of the newborn": "ORPHA:289877", "Disorder of ornithine metabolism": "ORPHA:289869", "Autoinflammatory syndrome with immune deficiency": "ORPHA:290839", "Systemic disease with skin involvement": "ORPHA:290836", "Vitamin B12-unresponsive methylmalonic acidemia type mut0": "ORPHA:289916", "Complete deficiency of methylmalonyl-CoA mutase": "ORPHA:289916", "Vitamin B12-unresponsive methylmalonic aciduria type mut0": "ORPHA:289916", "Lymphoepithelial-like carcinoma": "ORPHA:289682", "Myopericytoma": "ORPHA:289685", "Epstein-Barr virus-positive diffuse large B-cell lymphoma": "ORPHA:289661", "EBV-positive DLBCL": "ORPHA:289661", "Epstein-Barr virus-positive diffuse large B-cell lymphoma not otherwise specified": "ORPHA:289661", "Epstein-Barr virus-positive diffuse large B-cell lymphoma, NOS": "ORPHA:289661", "Plasmablastic lymphoma": "ORPHA:289666", "PBL": "ORPHA:289666", "Epstein-Barr Virus-associated carcinoma": "ORPHA:289651", "EBV-associated carcinoma": "ORPHA:289651", "Epstein-Barr Virus-associated mesenchymal tumor": "ORPHA:289656", "EBV-associated mesenchymal tumor": "ORPHA:289656", "Epstein-Barr Virus-related tumor": "ORPHA:289638", "EBV-related tumor": "ORPHA:289638", "Epstein-Barr virus-associated malignant lymphoproliferative disorder": "ORPHA:289644", "EBV-associated lymphoproliferative disorder": "ORPHA:289644", "Neonatal glycine encephalopathy": "ORPHA:289857", "Classic glycine encephalopathy": "ORPHA:289857", "Neonatal NKH": "ORPHA:289857", "Neonatal non-ketotic hyperglycinemia": "ORPHA:289857", "Infantile glycine encephalopathy": "ORPHA:289860", "Infantile NKH": "ORPHA:289860", "Infantile non-ketotic hyperglycinemia": "ORPHA:289860", "Glutathione synthetase deficiency with 5-oxoprolinuria": "ORPHA:289846", "Glutathione synthetase deficiency without 5-oxoprolinuria": "ORPHA:289849", "Disorder of lysine and hydroxylysine metabolism": "ORPHA:289832", "Disorder of glutamine metabolism": "ORPHA:289841", "Late-onset primary lymphedema without systemic or visceral involvement": "ORPHA:289825", "Disorder of tryptophan metabolism": "ORPHA:289829", "Multiple mitochondrial dysfunctions syndrome": "ORPHA:289573", "Mitochondrial membrane protein-associated neurodegeneration": "ORPHA:289560", "MPAN": "ORPHA:289560", "NBIA due to C19orf12 mutation": "ORPHA:289560", "NBIA4": "ORPHA:289560", "Neurodegeneration with brain iron accumulation due to C19orf12 mutation": "ORPHA:289560", "Neurodegeneration with brain iron accumulation type 4": "ORPHA:289560", "Dysmorphism-conductive hearing loss-heart defect syndrome": "ORPHA:289553", "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency": "ORPHA:289548", "BAP1-related tumor predisposition syndrome": "ORPHA:289539", "Tumor susceptibility linked to germline BAP1 mutations": "ORPHA:289539", "Rare virus associated tumor": "ORPHA:289635", "Hereditary arterial and articular multiple calcification syndrome": "ORPHA:289601", "CALJA": "ORPHA:289601", "Calcification of joints and arteries": "ORPHA:289601", "Juvenile nasopharyngeal angiofibroma": "ORPHA:289596", "JNA": "ORPHA:289596", "Exfoliative ichthyosis": "ORPHA:289586", "Autosomal recessive exfoliative ichthyosis": "ORPHA:289586", "Ichthyosis exfoliativa": "ORPHA:289586", "Methylmalonic acidemia without homocystinuria": "ORPHA:293355", "Methylmalonic aciduria without homocystinuria": "ORPHA:293355", "Grayson-Wilbrandt corneal dystrophy": "ORPHA:293375", "GWCD": "ORPHA:293375", "Epithelial recurrent erosion dystrophy": "ORPHA:293381", "Dystrophia Helsinglandica": "ORPHA:293381", "Dystrophia Smolandiensis": "ORPHA:293381", "ERED": "ORPHA:293381", "Recurrent hereditary corneal erosions": "ORPHA:293381", "Pre-Descemet corneal dystrophy": "ORPHA:293462", "PDCD": "ORPHA:293462", "Congenital hereditary endothelial dystrophy type II": "ORPHA:293603", "Autosomal recessive CHED": "ORPHA:293603", "Autosomal recessive congenital hereditary endothelial dystrophy": "ORPHA:293603", "CHED2": "ORPHA:293603", "CHEDII": "ORPHA:293603", "Congenital hereditary endothelial dystrophy type 2": "ORPHA:293603", "Infantile hereditary endothelial dystrophy": "ORPHA:293603", "Maumenee corneal dystrophy": "ORPHA:293603", "X-linked endothelial corneal dystrophy": "ORPHA:293621", "XECD": "ORPHA:293621", "Shwachman-Diamond syndrome": "ORPHA:811", "Pancreatic insufficiency and bone marrow dysfunction": "ORPHA:811", "SDS": "ORPHA:811", "Shwachman syndrome": "ORPHA:811", "Shwachman-Bodian-Diamond syndrome": "ORPHA:811", "Intermittent neutropenia": "ORPHA:2689", "Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome": "ORPHA:2687", "NON RARE IN EUROPE: Fibromuscular dysplasia of arteries": "ORPHA:336", "Familial clubfoot due to PITX1 point mutation": "ORPHA:293150", "Hereditary clubfoot due to PITX1 point mutation": "ORPHA:293150", "Familial mitral valve prolapse": "ORPHA:741", "Familial clubfoot due to 5q31 microdeletion": "ORPHA:293144", "Hereditary clubfoot due to 5q31 microdeletion": "ORPHA:293144", "Infantile-onset ascending hereditary spastic paralysis": "ORPHA:293168", "IAHSP": "ORPHA:293168", "Skin fragility-woolly hair-palmoplantar keratoderma syndrome": "ORPHA:293165", "Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome": "ORPHA:293165", "Autosomal dominant hypocalcemia": "ORPHA:428", "AD hypocalcemia": "ORPHA:428", "Epilepsy of infancy with migrating focal seizures": "ORPHA:293181", "EIMFS": "ORPHA:293181", "Epilepsy with migrating focal seizure in infancy": "ORPHA:293181", "MMPEI": "ORPHA:293181", "MMPSI": "ORPHA:293181", "MPEI": "ORPHA:293181", "Malignant migrating partial epilepsy of infancy": "ORPHA:293181", "Malignant migrating partial seizures of infancy": "ORPHA:293181", "Migrating partial epilepsy of infancy": "ORPHA:293181", "Migrating partial seizures of infancy": "ORPHA:293181", "Insulin-resistance syndrome type B": "ORPHA:2298", "Familial primary hyperparathyroidism": "ORPHA:2207", "Acute generalized exanthematous pustulosis": "ORPHA:293173", "AGEP": "ORPHA:293173", "Pustular drug eruption": "ORPHA:293173", "Toxic pustuloderma": "ORPHA:293173", "Pleomorphic rhabdomyosarcoma": "ORPHA:293199", "46,XX testicular difference of sex development": "ORPHA:393", "46,XX testicular DSD": "ORPHA:393", "46,XX testicular disorder of sex development": "ORPHA:393", "De la Chapelle syndrome": "ORPHA:393", "XX, male syndrome": "ORPHA:393", "OBSOLETE: Pleomorphic undifferentiated sarcoma": "ORPHA:293190", "Epithelioid sarcoma": "ORPHA:293202", "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria": "ORPHA:293284", "BH4-responsive HPA/PKU": "ORPHA:293284", "BH4-responsive hyperphenylalaninemia/phenylketonuria": "ORPHA:293284", "Tetrahydrobiopterin-responsive HPA/PKU": "ORPHA:293284", "Celiac artery compression syndrome": "ORPHA:293208", "Dunbar syndrome": "ORPHA:293208", "MALS": "ORPHA:293208", "Median arcuate ligament syndrome": "ORPHA:293208", "Mansonelliasis": "ORPHA:2459", "Mansonellosis": "ORPHA:2459", "Loiasis": "ORPHA:2404", "Pyruvate dehydrogenase E3 deficiency": "ORPHA:2394", "DLD deficiency": "ORPHA:2394", "Dihydrolipoamide dehydrogenase deficiency": "ORPHA:2394", "E3-deficient maple syrup urine disease": "ORPHA:2394", "Arachnoid cyst": "ORPHA:2356", "Adult-onset Still disease": "ORPHA:829", "AOSD": "ORPHA:829", "Wissler-Fanconi syndrome": "ORPHA:829", "Reye syndrome": "ORPHA:3096", "Rasmussen subacute encephalitis": "ORPHA:1929", "Rasmussen syndrome": "ORPHA:1929", "Opsoclonus-myoclonus syndrome": "ORPHA:1183", "Ataxo-opso-myoclonus syndrome": "ORPHA:1183", "Dancing eye syndrome": "ORPHA:1183", "Dancing eye-dancing feet syndrome": "ORPHA:1183", "Kinsbourne syndrome": "ORPHA:1183", "OMA syndrome": "ORPHA:1183", "OMS": "ORPHA:1183", "Opsoclonus-myoclonus-ataxia syndrome": "ORPHA:1183", "POMA syndrome": "ORPHA:1183", "Paraneoplastic opsoclonus-myoclonus": "ORPHA:1183", "Paraneoplastic opsoclonus-myoclonus-ataxia syndrome": "ORPHA:1183", "Adult idiopathic neutropenia": "ORPHA:2688", "Adult chronic idiopathic neutropenia": "ORPHA:2688", "Cyclic neutropenia": "ORPHA:2686", "Hepatic veno-occlusive disease": "ORPHA:890", "Sinusoidal obstruction syndrome": "ORPHA:890", "Non-rhizomelic chondrodysplasia punctata": "ORPHA:176", "Dracunculiasis": "ORPHA:231", "Dracunculosis": "ORPHA:231", "Guinea worm disease": "ORPHA:231", "Medina worm disease": "ORPHA:231", "Medinensis": "ORPHA:231", "Lymphatic filariasis": "ORPHA:2035", "Antiphospholipid syndrome": "ORPHA:80", "APLS": "ORPHA:80", "Antiphospholipid antibody syndrome": "ORPHA:80", "Classic APLS": "ORPHA:80", "Classic antiphospholipid syndrome": "ORPHA:80", "Hughes syndrome": "ORPHA:80", "Disorder of folate metabolism and transport": "ORPHA:285657", "Qualitative or quantitative defects of troponin": "ORPHA:284786", "Qualitative or quantitative defects of tropomyosin": "ORPHA:284790", "Ocular albinism": "ORPHA:284804", "CLIPPERS": "ORPHA:284448", "Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids": "ORPHA:284448", "Acute zonal occult outer retinopathy": "ORPHA:284454", "AZOOR": "ORPHA:284454", "Acute annular outer retinopathy": "ORPHA:284460", "AAOR": "ORPHA:284460", "Glycerol kinase deficiency, adult form": "ORPHA:284414", "Phosphoserine aminotransferase deficiency, infantile/juvenile form": "ORPHA:284417", "PSAT deficiency, infantile/juvenile form": "ORPHA:284417", "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency": "ORPHA:284426", "GSD due to lactate dehydrogenase M-subunit deficiency": "ORPHA:284426", "Glycogenosis due to lactate dehydrogenase M-subunit deficiency": "ORPHA:284426", "LDH-M subunit deficiency": "ORPHA:284426", "Lactate dehydrogenase A deficiency": "ORPHA:284426", "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency": "ORPHA:284435", "GSD due to lactate dehydrogenase H-subunit deficiency": "ORPHA:284435", "Glycogenosis due to lactate dehydrogenase H-subunit deficiency": "ORPHA:284435", "LDH-H subunit deficiency": "ORPHA:284435", "Lactate dehydrogenase B deficiency": "ORPHA:284435", "Rare disease with thoracic aortic aneurysm and aortic dissection": "ORPHA:285014", "Marfan syndrome and Marfan-related disorders": "ORPHA:284993", "Marfan syndrome type 2": "ORPHA:284973", "MFS2": "ORPHA:284973", "Marfan syndrome type 1": "ORPHA:284963", "MFS1": "ORPHA:284963", "Aneurysm-osteoarthritis syndrome": "ORPHA:284984", "Neonatal Marfan syndrome": "ORPHA:284979", "Neonatal MFS": "ORPHA:284979", "Disorder of phenylalanine metabolism": "ORPHA:284814", "Syndromic oculocutaneous albinism": "ORPHA:284811", "Disorder of tyrosine metabolism": "ORPHA:284818", "Non-central nervous system-localized embryonal carcinoma": "ORPHA:289362", "Non-CNS-localized embryonal carcinoma": "ORPHA:289362", "Familial vesicoureteral reflux": "ORPHA:289365", "Familial VUR": "ORPHA:289365", "Infective dermatitis associated with HTLV-1": "ORPHA:289347", "IDH": "ORPHA:289347", "Infective dermatitis associated with human T-lymphotropic virus type 1": "ORPHA:289347", "Infective dermatitis associated with human T-lymphotropic virus type I": "ORPHA:289347", "Primary non-gestational choriocarcinoma of ovary": "ORPHA:289356", "NGCO": "ORPHA:289356", "Primary non-gestational ovarian choriocarcinoma": "ORPHA:289356", "Early-onset myopathy with fatal cardiomyopathy": "ORPHA:289377", "EOMFC": "ORPHA:289377", "Salih myopathy": "ORPHA:289377", "Myosclerosis": "ORPHA:289380", "Congenital myosclerosis, L\u00f6wenthal type": "ORPHA:289380", "Hypermethioninemia encephalopathy due to adenosine kinase deficiency": "ORPHA:289290", "ADK hypermethioninemia": "ORPHA:289290", "Hypermethioninemia encephalopathy due to ADK deficiency": "ORPHA:289290", "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation": "ORPHA:289266", "Tropical spastic paraparesis": "ORPHA:289326", "HAM/TSP": "ORPHA:289326", "HTLV-1-associated myelopathy/tropical spastic paraparesis": "ORPHA:289326", "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis": "ORPHA:289326", "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis": "ORPHA:289326", "TSP": "ORPHA:289326", "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency": "ORPHA:289307", "Developmental delay due to ALDH6A1 deficiency": "ORPHA:289307", "Developmental delay due to MMSDH deficiency": "ORPHA:289307", "Combined malonic and methylmalonic acidemia": "ORPHA:289504", "CMAMMA": "ORPHA:289504", "Combined malonic and methylmalonic aciduria": "ORPHA:289504", "Congenital cataract microcornea with corneal opacity": "ORPHA:289499", "CCMCO": "ORPHA:289499", "4H leukodystrophy": "ORPHA:289494", "POLR-related leukodystrophy": "ORPHA:289494", "OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency": "ORPHA:289527", "OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency": "ORPHA:289527", "OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency": "ORPHA:289527", "OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency": "ORPHA:289527", "Microtriplication 11q24.1 syndrome": "ORPHA:289522", "Tetrasomy 11q24.1": "ORPHA:289522", "12q15q21.1 microdeletion syndrome": "ORPHA:289513", "Del(12)(q15)(q21.1)": "ORPHA:289513", "Deletion 12q15q21.1": "ORPHA:289513", "Monosomy 12q15q21.1": "ORPHA:289513", "Isolated congenital adermatoglyphia": "ORPHA:289465", "Congenital absence of fingerprints": "ORPHA:289465", "Immigration delay disease": "ORPHA:289465", "NON RARE IN EUROPE: Secondary Sj\u00f6gren syndrome": "ORPHA:289395", "NON RARE IN EUROPE: Secondary Sj\u00f6gren-Gougerot syndrome": "ORPHA:289395", "Primary Sj\u00f6gren syndrome": "ORPHA:289390", "Primary Sj\u00f6gren-Gougerot syndrome": "ORPHA:289390", "Malignancy diagnosed during pregnancy": "ORPHA:289385", "Cancer diagnosed during pregnancy": "ORPHA:289385", "Intellectual disability-alacrima-achalasia syndrome": "ORPHA:289483", "PASH syndrome": "ORPHA:289478", "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome": "ORPHA:289478", "Hypocalcemic rickets": "ORPHA:289103", "Disorders of vitamin D metabolism": "ORPHA:289098", "Autosomal recessive hypophosphatemic rickets": "ORPHA:289176", "ARHR": "ORPHA:289176", "Hypocalcemic vitamin D-dependent rickets": "ORPHA:289157", "1-alpha-hydroxylase deficiency": "ORPHA:289157", "PDDRI": "ORPHA:289157", "Pseudovitamin D-deficient rickets": "ORPHA:289157", "VDDI": "ORPHA:289157", "VDDR-I": "ORPHA:289157", "Vitamin D dependent rickets type I": "ORPHA:289157", "Vitamin D-dependency type I": "ORPHA:289157", "Systemic diseases with anterior uveitis": "ORPHA:280926", "Idiopathic panuveitis": "ORPHA:280921", "Idiopathic posterior uveitis": "ORPHA:280917", "Isolated idiopathic anterior uveitis": "ORPHA:280914", "Isolated IAU": "ORPHA:280914", "Panuveitis": "ORPHA:280898", "Total uveitis": "ORPHA:280898", "Posterior uveitis": "ORPHA:280892", "Choroiditis": "ORPHA:280892", "Anterior uveitis": "ORPHA:280886", "Iridocyclitis": "ORPHA:280886", "Keratinopathic ichthyosis": "ORPHA:281103", "KPI": "ORPHA:281103", "Autosomal recessive congenital ichthyosis": "ORPHA:281097", "ARCI": "ORPHA:281097", "Syndromic recessive X-linked ichthyosis": "ORPHA:281090", "Recessive X-linked ichthyosis with extracutaneous manifestations": "ORPHA:281090", "Syndromic RXLI": "ORPHA:281090", "Inherited ichthyosis syndromic form": "ORPHA:281085", "Inherited non-syndromic ichthyosis": "ORPHA:281082", "Systemic diseases with panuveitis": "ORPHA:280933", "Systemic diseases with posterior uveitis": "ORPHA:280930", "X-linked ichthyosis syndrome": "ORPHA:281210", "Autosomal ichthyosis syndrome": "ORPHA:281217", "Congenital reticular ichthyosiform erythroderma": "ORPHA:281190", "CRIE": "ORPHA:281190", "IWC": "ORPHA:281190", "Ichthyosis variegata": "ORPHA:281190", "Ichthyosis with confetti": "ORPHA:281190", "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome": "ORPHA:281201", "KLICK syndrome": "ORPHA:281201", "Annular epidermolytic ichthyosis": "ORPHA:281139", "AEI": "ORPHA:281139", "Self-improving collodion baby": "ORPHA:281122", "SHCB": "ORPHA:281122", "SICI": "ORPHA:281122", "Self-healing collodion baby": "ORPHA:281122", "Self-improving congenital ichthyosis": "ORPHA:281122", "Acral self-healing collodion baby": "ORPHA:281127", "Acral SHCB": "ORPHA:281127", "Autosomal ichthyosis syndrome with other associated signs": "ORPHA:281244", "Autosomal ichthyosis syndrome with prominent neurologic signs": "ORPHA:281238", "Autosomal ichthyosis syndrome with fatal disease course": "ORPHA:281241", "Autosomal ichthyosis syndrome with prominent hair abnormalities": "ORPHA:281222", "OBSOLETE: Congenital ichthyosis with trichothiodystrophy": "ORPHA:281234", "Familial progressive hyper- and hypopigmentation": "ORPHA:280628", "FPHH": "ORPHA:280628", "Multiple congenital anomalies-hypotonia-seizures syndrome": "ORPHA:280633", "Congenital disorder of glycosylation due to PIGN deficiency": "ORPHA:280633", "PIGN-CDG": "ORPHA:280633", "Hemoglobinopathy Toms River": "ORPHA:280615", "Transient neonatal cyanosis and anemia due to Toms River Hemoglobin": "ORPHA:280615", "Hereditary sensorimotor neuropathy with hyperelastic skin": "ORPHA:280598", "Progressive myoclonic epilepsy type 6": "ORPHA:280620", "EPM6": "ORPHA:280620", "GOSR2-related progressive myoclonus ataxia": "ORPHA:280620", "North Sea progressive myoclonus epilepsy": "ORPHA:280620", "PME type 6": "ORPHA:280620", "Progressive myoclonus epilepsy type 6": "ORPHA:280620", "Hermansky-Pudlak syndrome type 9": "ORPHA:280663", "HPS9": "ORPHA:280663", "Megaconial congenital muscular dystrophy": "ORPHA:280671", "Congenital megaconial myopathy": "ORPHA:280671", "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect": "ORPHA:280671", "Congenital muscular dystrophy with mitochondrial structural abnormalities": "ORPHA:280671", "Occipital pachygyria and polymicrogyria": "ORPHA:280640", "Occipital MCD": "ORPHA:280640", "Occipital malformations of cortical development": "ORPHA:280640", "Autosomal recessive nail dysplasia": "ORPHA:280654", "OBSOLETE: Acrodysostosis with multiple hormone resistance": "ORPHA:280651", "Cutaneous collagenous vasculopathy": "ORPHA:280779", "CCV": "ORPHA:280779", "Bullous diffuse cutaneous mastocytosis": "ORPHA:280785", "Bullous DCM": "ORPHA:280785", "Pseudoxanthomatous diffuse cutaneous mastocytosis": "ORPHA:280794", "Infiltrative small vesicular DCM": "ORPHA:280794", "Infiltrative small vesicular diffuse cutaneous mastocytosis": "ORPHA:280794", "Pseudoxanthomatous DCM": "ORPHA:280794", "Intralobar congenital pulmonary sequestration": "ORPHA:280802", "Congenital intrapulmonary sequestration": "ORPHA:280802", "Intralobar congenital bronchopulmonary sequestration": "ORPHA:280802", "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome": "ORPHA:280679", "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism": "ORPHA:280679", "Severe intellectual disability and progressive spastic paraplegia": "ORPHA:280763", "AP4 deficiency syndrome": "ORPHA:280763", "Generalized essential telangiectasia": "ORPHA:280774", "GET": "ORPHA:280774", "Congenital pulmonary airway malformation type 2": "ORPHA:280840", "CCAM type 2": "ORPHA:280840", "CPAM type 2": "ORPHA:280840", "Congenital cystic adenomatoid malformation of the lung type 2": "ORPHA:280840", "Congenital cystic adenomatous malformation of the lung type 2": "ORPHA:280840", "Congenital cystic disease of the lung type 2": "ORPHA:280840", "Congenital pulmonary airway malformation type 3": "ORPHA:280847", "CCAM type 3": "ORPHA:280847", "CPAM type 3": "ORPHA:280847", "Congenital cystic adenomatoid malformation of the lung type 3": "ORPHA:280847", "Congenital cystic adenomatous malformation of the lung type 3": "ORPHA:280847", "Congenital cystic disease of the lung type 3": "ORPHA:280847", "Congenital pulmonary airway malformation type 4": "ORPHA:280854", "CPAM type 4": "ORPHA:280854", "Congenital cystic adenomatoid malformation of the lung type 4": "ORPHA:280854", "Congenital cystic adenomatous malformation of the lung type 4": "ORPHA:280854", "Extralobar congenital pulmonary sequestration": "ORPHA:280811", "Congenital extrapulmonary sequestration": "ORPHA:280811", "Extralobar congenital bronchopulmonary sequestration": "ORPHA:280811", "Communicating congenital bronchopulmonary-foregut malformation": "ORPHA:280821", "Congenital pulmonary airway malformation type 0": "ORPHA:280827", "CPAM type 0": "ORPHA:280827", "Congenital cystic adenomatoid malformation of the lung type 0": "ORPHA:280827", "Congenital cystic adenomatous malformation of the lung type 0": "ORPHA:280827", "Congenital pulmonary airway malformation type 1": "ORPHA:280832", "CCAM type 1": "ORPHA:280832", "CPAM type 1": "ORPHA:280832", "Congenital cystic adenomatoid malformation of the lung type 1": "ORPHA:280832", "Congenital cystic adenomatous malformation of the lung type 1": "ORPHA:280832", "Congenital cystic disease of the lung type 1": "ORPHA:280832", "Craniosynostosis-dental anomalies": "ORPHA:284149", "Kreiborg-Pakistani syndrome": "ORPHA:284149", "Larsen-like syndrome, B3GAT3 type": "ORPHA:284139", "Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome": "ORPHA:284139", "Xp22.13p22.2 duplication syndrome": "ORPHA:284180", "Dup(X)(p22)": "ORPHA:284180", "Dup(X)(p22.13p22.2)": "ORPHA:284180", "Duplication Xp22": "ORPHA:284180", "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion": "ORPHA:284169", "10p12p11 microdeletion syndrome": "ORPHA:284169", "Del(10)(p11.21p12.31)": "ORPHA:284169", "Deletion 10p11.21p12.31": "ORPHA:284169", "Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion": "ORPHA:284169", "Monosomy 10p11.21p12.31": "ORPHA:284169", "8q21.11 microdeletion syndrome": "ORPHA:284160", "Del(8)(q21.11)": "ORPHA:284160", "Deletion 8q21.11": "ORPHA:284160", "Monosomy 8q21.11": "ORPHA:284160", "Familial retinal arterial macroaneurysm": "ORPHA:284247", "FRAM": "ORPHA:284247", "Retinal arterial macroaneurysm and supravalvular pulmonic stenosis": "ORPHA:284247", "Autosomal dominant Charcot-Marie-Tooth disease type 2O": "ORPHA:284232", "CMT2O": "ORPHA:284232", "TEMPI syndrome": "ORPHA:284227", "Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome": "ORPHA:284227", "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome": "ORPHA:284271", "Autosomal recessive spinocerebellar ataxia type 11": "ORPHA:284271", "SCAR11": "ORPHA:284271", "IgG4-related disease": "ORPHA:284264", "IgG4-related sclerosing disease": "ORPHA:284264", "Immunoglobulin G4-related sclerosing disease": "ORPHA:284264", "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia": "ORPHA:284324", "Autosomal recessive spinocerebellar ataxia type 7": "ORPHA:284324", "SCAR7": "ORPHA:284324", "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency": "ORPHA:284282", "Autosomal recessive spinocerebellar ataxia type 12": "ORPHA:284282", "SCAR12": "ORPHA:284282", "Adult-onset autosomal recessive cerebellar ataxia": "ORPHA:284289", "Autosomal recessive spinocerebellar ataxia type 10": "ORPHA:284289", "SCAR10": "ORPHA:284289", "DICER1 tumor-predisposition syndrome": "ORPHA:284343", "PPB familial tumor and dysplasia syndrome": "ORPHA:284343", "PPBFTDS": "ORPHA:284343", "Pleuropulmonary blastoma familial tumor and dysplasia syndrome": "ORPHA:284343", "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia": "ORPHA:284332", "Autosomal recessive spinocerebellar ataxia type 6": "ORPHA:284332", "SCAR6": "ORPHA:284332", "Pontocerebellar hypoplasia type 7": "ORPHA:284339", "PCH7": "ORPHA:284339", "Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome": "ORPHA:284339", "Familial intrahepatic cholestasis": "ORPHA:284385", "Reversible cerebral vasoconstriction syndrome": "ORPHA:284388", "RCVS": "ORPHA:284388", "Fetal lung interstitial tumor": "ORPHA:284362", "FLIT": "ORPHA:284362", "Immature interstitial mesenchymal tumor": "ORPHA:284362", "OBSOLETE: Glycerol kinase deficiency, infantile form": "ORPHA:284408", "Glycerol kinase deficiency, juvenile form": "ORPHA:284411", "Well-differentiated fetal adenocarcinoma of the lung": "ORPHA:284395", "WDFA": "ORPHA:284395", "Small cell carcinoma of the bladder": "ORPHA:284400", "Poorly differentiated neuroendocrine carcinoma of the bladder": "ORPHA:284400", "SCCB": "ORPHA:284400", "Small cell bladder cancer": "ORPHA:284400", "Small cell bladder carcinoma": "ORPHA:284400", "Small cell carcinoma of the urinary bladder": "ORPHA:284400", "Partial deletion of chromosome 12 syndrome": "ORPHA:282124", "Partial monosomy of chromosome 12": "ORPHA:282124", "Autoimmune polyendocrinopathy": "ORPHA:282196", "APS": "ORPHA:282196", "Autoimmune polyglandular syndrome": "ORPHA:282196", "Inherited Creutzfeldt-Jakob disease": "ORPHA:282166", "Inherited CJD": "ORPHA:282166", "NON RARE IN EUROPE: Rheumatoid arthritis": "ORPHA:284130", "Disorder of magnesium transport": "ORPHA:309848", "Disorder of zinc metabolism and transport": "ORPHA:309845", "Disorder of iron metabolism and transport": "ORPHA:309842", "Disorder of copper metabolism": "ORPHA:309839", "Acquired immunodeficiency": "ORPHA:310050", "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome": "ORPHA:309854", "Disorder of manganese transport": "ORPHA:309851", "Disorder of metabolite absorption and transport": "ORPHA:309824", "Disorder of pterin metabolism": "ORPHA:309819", "Disorder of bilirubin metabolism and excretion": "ORPHA:309816", "Disorder of porphyrin and heme metabolism": "ORPHA:309813", "Disorder of mineral absorption and transport": "ORPHA:309836", "Disorder of other vitamins and cofactors metabolism and transport": "ORPHA:309833", "Disorder of catecholamine synthesis": "ORPHA:309830", "Disorder of vitamin and non-protein cofactor absorption and transport": "ORPHA:309827", "Defect in conserved oligomeric Golgi complex": "ORPHA:309568", "Defect in COG complex": "ORPHA:309568", "Defect in V-ATPase": "ORPHA:309778", "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation": "ORPHA:309515", "Disorder of glycosphingolipid and GPI-anchored proteins glycosylation": "ORPHA:309515", "Disorder of multiple glycosylation": "ORPHA:309526", "Rhizomelic chondrodysplasia punctata type 3": "ORPHA:309803", "Disorder of peroxisomal alpha-, beta- and omega-oxidation": "ORPHA:309810", "Rhizomelic chondrodysplasia punctata type 1": "ORPHA:309789", "Rhizomelic chondrodysplasia punctata type 2": "ORPHA:309796", "Disorder of protein O-glycosylation": "ORPHA:309447", "Disorder of O-xylosylglycan synthesis": "ORPHA:309450", "Disorder of lysosomal-related organelles": "ORPHA:309340", "Disorder of protein N-glycosylation": "ORPHA:309347", "Disorder of O-mannosylglycan synthesis": "ORPHA:309469", "Disorder of fucoglycosan synthesis": "ORPHA:309505", "Disorder of O-N-acetylgalactosaminylglycan synthesis": "ORPHA:309458", "Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis": "ORPHA:309463", "High bone mass osteogenesis imperfecta": "ORPHA:314029", "High bone mass OI": "ORPHA:314029", "Gastric adenocarcinoma and proximal polyposis of the stomach": "ORPHA:314022", "Familial fundic gland polyposis with gastric cancer": "ORPHA:314022", "GAPPS": "ORPHA:314022", "Idiopathic linear interstitial keratitis": "ORPHA:314017", "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome": "ORPHA:314002", "Dinno syndrome": "ORPHA:314002", "2q23.1 microduplication syndrome": "ORPHA:313947", "Dup(2)(q23.1)": "ORPHA:313947", "Trisomy 2q23.1": "ORPHA:313947", "PENS syndrome": "ORPHA:313936", "Papular epidermal nevi with skyline basal cell layers syndrome": "ORPHA:313936", "Epstein-Barr virus-associated gastric carcinoma": "ORPHA:313920", "EBV-associated gastric carcinoma": "ORPHA:313920", "EBVaGC": "ORPHA:313920", "Congenital pancreatic cyst": "ORPHA:313906", "Neonatal congenital pancreatic cyst": "ORPHA:313906", "True congenital pancreatic cyst": "ORPHA:313906", "Developmental and speech delay due to SOX5 deficiency": "ORPHA:313892", "12p12.1 microdeletion syndrome": "ORPHA:313884", "Del(12)(p12.1)": "ORPHA:313884", "Monosomy 12p12.1": "ORPHA:313884", "FGFR2-related bent bone dysplasia": "ORPHA:313855", "Perinatal lethal bent bone dysplasia": "ORPHA:313855", "Infantile cerebellar-retinal degeneration": "ORPHA:313850", "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome": "ORPHA:313846", "Coats plus syndrome": "ORPHA:313838", "CRMCC": "ORPHA:313838", "Cerebroretinal microangiopathy with calcifications and cysts": "ORPHA:313838", "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome": "ORPHA:313800", "Optic nerve edema-splenomegaly syndrome": "ORPHA:313800", "ROSAH syndrome": "ORPHA:313800", "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia": "ORPHA:313808", "ALSP": "ORPHA:313808", "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids": "ORPHA:313808", "FPSG": "ORPHA:313808", "Familial dementia, Neumann type": "ORPHA:313808", "Familial progressive subcortical gliosis": "ORPHA:313808", "GPSC": "ORPHA:313808", "HDLS": "ORPHA:313808", "Hereditary diffuse leukoencephalopathy with spheroids": "ORPHA:313808", "POLD": "ORPHA:313808", "Pigmentary orthochromatic leukodystrophy": "ORPHA:313808", "Subcortical gliosis of Neumann": "ORPHA:313808", "20p13 microdeletion syndrome": "ORPHA:313781", "20p subtelomeric deletion syndrome": "ORPHA:313781", "Del(20)(p13)": "ORPHA:313781", "Monosomy 20p13": "ORPHA:313781", "Jawad syndrome": "ORPHA:313795", "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome": "ORPHA:313772", "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome": "ORPHA:313772", "Autosomal recessive spastic ataxia type 5": "ORPHA:313772", "SPAX5": "ORPHA:313772", "Autosomal recessive spastic ataxia with leukoencephalopathy": "ORPHA:314603", "ARSAL": "ORPHA:314603", "Autosomal recessive spastic ataxia type 3": "ORPHA:314603", "SPAX3": "ORPHA:314603", "Chudley-McCullough syndrome": "ORPHA:314597", "Growing teratoma syndrome": "ORPHA:314613", "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome": "ORPHA:314575", "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome": "ORPHA:314572", "Distal triplication 15q syndrome": "ORPHA:314588", "Distal tetrasomy 15q": "ORPHA:314588", "Tetrasomy 15(q25-qter)": "ORPHA:314588", "Tetrasomy 15q26": "ORPHA:314588", "Triplication 15q25-qter": "ORPHA:314588", "Triplication 15q26": "ORPHA:314588", "15q overgrowth syndrome": "ORPHA:314585", "Young adult-onset distal hereditary motor neuropathy": "ORPHA:314485", "Autosomal recessive distal spinal muscular atrophy type 5": "ORPHA:314485", "Young adult-onset dHMN": "ORPHA:314485", "dSMA5": "ORPHA:314485", "Primary progressive apraxia of speech": "ORPHA:314566", "PPAOS": "ORPHA:314566", "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome": "ORPHA:314555", "Hamamy syndrome": "ORPHA:314555", "Atypical Meigs syndrome": "ORPHA:314466", "Atypical Demons-Meigs syndrome": "ORPHA:314466", "Incomplete Meigs syndrome": "ORPHA:314466", "Pseudo-Meigs syndrome": "ORPHA:314459", "Pseudo-Demons-Meigs syndrome": "ORPHA:314459", "Ovarian fibrothecoma": "ORPHA:314478", "Ovarian fibroma": "ORPHA:314473", "Ameloblastic carcinoma": "ORPHA:314422", "Rare odontogenic tumor": "ORPHA:314425", "Spigelian hernia-cryptorchidism syndrome": "ORPHA:314432", "Meigs syndrome": "ORPHA:314451", "Demons-Meigs syndrome": "ORPHA:314451", "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome": "ORPHA:314394", "SOFT syndrome": "ORPHA:314394", "Autosomal dominant aplasia and myelodysplasia": "ORPHA:314399", "Autosomal dominant aplastic anemia and myelodysplasia": "ORPHA:314399", "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome": "ORPHA:314404", "ADCA-DN syndrome": "ORPHA:314404", "Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome": "ORPHA:314404", "Ameloblastoma": "ORPHA:314419", "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity": "ORPHA:314373", "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency": "ORPHA:314376", "Meconium ileus due to guanylate cyclase 2C deficiency": "ORPHA:314376", "Hereditary sensory and autonomic neuropathy type 6": "ORPHA:314381", "Familial dysautonomia with contractures": "ORPHA:314381", "HSAN6": "ORPHA:314381", "Hereditary sensory and autonomic neuropathy type VI": "ORPHA:314381", "Xq12-q13.3 duplication syndrome": "ORPHA:314389", "Dup(X)(q12-q13.3)": "ORPHA:314389", "Kaya-Prontera syndrome": "ORPHA:314389", "7p22.1 microduplication syndrome": "ORPHA:314034", "Dup(7)(p22.1)": "ORPHA:314034", "Trisomy 7p22.1": "ORPHA:314034", "Marfanoid habitus-inguinal hernia-advanced bone age syndrome": "ORPHA:314041", "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome": "ORPHA:314051", "COXPD12": "ORPHA:314051", "Combined oxidative phosphorylation defect type 12": "ORPHA:314051", "LTBL": "ORPHA:314051", "Epilepsy and/or ataxia with myoclonus as a major feature": "ORPHA:306756", "Non progressive epilepsy and/or ataxia with myoclonus as a major feature": "ORPHA:306759", "Primary myoclonus": "ORPHA:306750", "Rare disease with myoclonus as a major feature": "ORPHA:306753", "Rare paroxysmal movement disorder": "ORPHA:306768", "Hyperekplexia": "ORPHA:306773", "OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature": "ORPHA:306762", "Motor stereotypies": "ORPHA:306765", "Rare parkinsonian syndrome due to genetic neurodegenerative disease": "ORPHA:307055", "Miscellaneous movement disorder due to genetic neurodegenerative disease": "ORPHA:307058", "Sporadic hyperekplexia": "ORPHA:306776", "Rare genetic parkinsonian disorder": "ORPHA:307052", "Rare genetic hypokinetic movement disorder": "ORPHA:307052", "Rare genetic disease with myoclonus as a major feature": "ORPHA:307067", "Diffuse palmoplantar keratoderma": "ORPHA:307141", "Diffuse PPK": "ORPHA:307141", "Diffuse keratosis palmoplantaris": "ORPHA:307141", "Diffuse palmoplantar hyperkeratosis": "ORPHA:307141", "Rare genetic tremor disorder": "ORPHA:307061", "Rare genetic myoclonus": "ORPHA:307064", "Manganese poisoning": "ORPHA:306682", "Manganese intoxication": "ORPHA:306682", "Manganism": "ORPHA:306682", "Rare parkinsonian syndrome due to intoxication": "ORPHA:306679", "Kufor-Rakeb syndrome": "ORPHA:306674", "PARK9": "ORPHA:306674", "Hemiparkinsonism-hemiatrophy syndrome": "ORPHA:306669", "HP-HA syndrome": "ORPHA:306669", "Frontotemporal neurodegeneration with movement disorder": "ORPHA:306708", "Miscellaneous movement disorder due to neurodegenerative disease": "ORPHA:306695", "Cyanide-induced parkinsonism-dystonia": "ORPHA:306692", "Delayed encephalopathy due to carbon monoxide poisoning": "ORPHA:306686", "Delayed encephalopathy due to CO poisoning": "ORPHA:306686", "Postinfectious autoimmune disease with chorea": "ORPHA:306727", "Neurodegenerative disease with chorea": "ORPHA:306719", "Rare choreic movement disorder": "ORPHA:306715", "Rare tremor disorder": "ORPHA:306712", "Rare myoclonus": "ORPHA:306747", "Hemidystonia-hemiatrophy syndrome": "ORPHA:306741", "HD-HA syndrome": "ORPHA:306741", "Primary dystonia, DYT21 type": "ORPHA:306734", "DYT21": "ORPHA:306734", "Sydenham chorea": "ORPHA:306731", "Erythrokeratoderma variabilis progressiva": "ORPHA:308166", "Methylcobalamin deficiency type cblDv1": "ORPHA:308380", "Functional methionine synthase deficiency type cblDv1": "ORPHA:308380", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A": "ORPHA:308386", "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A": "ORPHA:308386", "MOCOD type A": "ORPHA:308386", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B": "ORPHA:308393", "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B": "ORPHA:308393", "MOCOD type B": "ORPHA:308393", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C": "ORPHA:308400", "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C": "ORPHA:308400", "MOCOD type C": "ORPHA:308400", "Disorder of beta and omega amino acid metabolism": "ORPHA:308407", "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency": "ORPHA:308410", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency": "ORPHA:308425", "MCEE deficiency": "ORPHA:308425", "Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency": "ORPHA:308425", "Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency": "ORPHA:308425", "Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency": "ORPHA:308425", "Disease with diffuse palmoplantar keratoderma as a major feature": "ORPHA:307711", "Disease with diffuse palmoplantar hyperkeratosis as a major feature": "ORPHA:307711", "Isolated diffuse palmoplantar keratoderma": "ORPHA:307148", "Isolated diffuse PPK": "ORPHA:307148", "Isolated diffuse keratosis palmoplantaris": "ORPHA:307148", "Isolated diffuse palmoplantar hyperkeratosis": "ORPHA:307148", "Curly hair-acral keratoderma-caries syndrome": "ORPHA:307766", "CHAC syndrome": "ORPHA:307766", "CHACS": "ORPHA:307766", "Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature": "ORPHA:307804", "Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature": "ORPHA:307804", "Autosomal dominant diffuse mutilating palmoplantar keratoderma": "ORPHA:307773", "Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis": "ORPHA:307773", "Isolated focal palmoplantar keratoderma": "ORPHA:307846", "Isolated focal PPK": "ORPHA:307846", "Isolated focal keratosis palmoplantaris": "ORPHA:307846", "Isolated focal palmoplantar hyperkeratosis": "ORPHA:307846", "Focal palmoplantar keratoderma": "ORPHA:307837", "Focal PPK": "ORPHA:307837", "Focal keratosis palmoplantaris": "ORPHA:307837", "Focal palmoplantar hyperkeratosis": "ORPHA:307837", "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome": "ORPHA:307936", "HOPP syndrome": "ORPHA:307936", "Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome": "ORPHA:307936", "Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome": "ORPHA:307936", "Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome": "ORPHA:307936", "Disease with focal palmoplantar keratoderma as a major feature": "ORPHA:307871", "Disease with focal palmoplantar hyperkeratosis as a major feature": "ORPHA:307871", "Marginal papular palmoplantar keratoderma": "ORPHA:307995", "Marginal papular palmoplantar hyperkeratosis": "ORPHA:307995", "Punctate palmoplantar keratoderma": "ORPHA:307967", "Punctate PPK": "ORPHA:307967", "Punctate keratosis palmoplantaris": "ORPHA:307967", "Punctate palmoplantar hyperkeratosis": "ORPHA:307967", "Disease with punctate palmoplantar keratoderma as a major feature": "ORPHA:308023", "Disease with punctate palmoplantar hyperkeratosis as a major feature": "ORPHA:308023", "Focal acral hyperkeratosis": "ORPHA:308013", "PPKP3 without elastoidosis": "ORPHA:308013", "PPPK3 without elastoidosis": "ORPHA:308013", "Punctate palmoplantar hyperkeratosis type 3 without elastoidosis": "ORPHA:308013", "Punctate palmoplantar keratoderma type 3 without elastoidosis": "ORPHA:308013", "Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature": "ORPHA:308041", "Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature": "ORPHA:308041", "Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature": "ORPHA:308031", "Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature": "ORPHA:308031", "Disorder of carbohydrate absorption and transport": "ORPHA:309001", "Disorder of lipid metabolism": "ORPHA:309005", "Glycerol kinase deficiency": "ORPHA:308993", "Disorder of glyoxylate metabolism": "ORPHA:308998", "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form": "ORPHA:308698", "GBE deficiency, childhood neuromuscular form": "ORPHA:308698", "GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form": "ORPHA:308698", "GSD type 4, childhood neuromuscular form": "ORPHA:308698", "GSDIV, childhood neuromuscular form": "ORPHA:308698", "Glycogen storage disease type 4, childhood neuromuscular form": "ORPHA:308698", "Glycogen storage disease type IV, childhood neuromuscular form": "ORPHA:308698", "Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form": "ORPHA:308698", "Glycogenosis type 4, childhood neuromuscular form": "ORPHA:308698", "Glycogenosis type IV, childhood neuromuscular form": "ORPHA:308698", "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form": "ORPHA:308712", "GBE deficiency, adult neuromuscular form": "ORPHA:308712", "GSD due to glycogen branching enzyme deficiency, adult neuromuscular form": "ORPHA:308712", "GSD type 4, adult neuromuscular form": "ORPHA:308712", "GSDIV, adult neuromuscular form": "ORPHA:308712", "Glycogen storage disease type 4, adult neuromuscular form": "ORPHA:308712", "Glycogen storage disease type IV, adult neuromuscular form": "ORPHA:308712", "Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form": "ORPHA:308712", "Glycogenosis type 4, adult neuromuscular form": "ORPHA:308712", "Glycogenosis type IV, adult neuromuscular form": "ORPHA:308712", "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form": "ORPHA:308670", "GBE deficiency, congenital neuromuscular form": "ORPHA:308670", "GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form": "ORPHA:308670", "GSD type 4, congenital neuromuscular form": "ORPHA:308670", "GSDIV, congenital neuromuscular form": "ORPHA:308670", "Glycogen storage disease type 4, congenital neuromuscular form": "ORPHA:308670", "Glycogen storage disease type IV, congenital neuromuscular form": "ORPHA:308670", "Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form": "ORPHA:308670", "Glycogenosis type 4, congenital neuromuscular form": "ORPHA:308670", "Glycogenosis type IV, congenital neuromuscular form": "ORPHA:308670", "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form": "ORPHA:308684", "GBE deficiency, childhood combined hepatic and myopathic form": "ORPHA:308684", "GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form": "ORPHA:308684", "GSD type 4, childhood combined hepatic and myopathic form": "ORPHA:308684", "GSDIV, childhood combined hepatic and myopathic form": "ORPHA:308684", "Glycogen storage disease type 4, childhood combined hepatic and myopathic form": "ORPHA:308684", "Glycogen storage disease type IV, childhood combined hepatic and myopathic form": "ORPHA:308684", "Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form": "ORPHA:308684", "Glycogenosis type 4, childhood combined hepatic and myopathic form": "ORPHA:308684", "Glycogenosis type IV, childhood combined hepatic and myopathic form": "ORPHA:308684", "Combined pancreatic lipase-colipase deficiency": "ORPHA:309111", "Disorder of fatty acid oxidation and ketogenesis": "ORPHA:309115", "Pancreatic triacylglycerol lipase deficiency": "ORPHA:309031", "Pancreatic triglyceride lipase deficiency": "ORPHA:309031", "Pancreatic colipase deficiency": "ORPHA:309108", "Mevalonate kinase deficiency": "ORPHA:309025", "MKD": "ORPHA:309025", "Disorder of lipid absorption and transport": "ORPHA:309028", "Familial lipoprotein lipase deficiency": "ORPHA:309015", "LPL deficiency": "ORPHA:309015", "Familial apolipoprotein C-II deficiency": "ORPHA:309020", "Familial APOC2 deficiency": "ORPHA:309020", "Familial apoC-II deficiency": "ORPHA:309020", "Generalized galactose epimerase deficiency": "ORPHA:308487", "Generalized GALE deficiency": "ORPHA:308487", "Generalized GALE-D": "ORPHA:308487", "Generalized UDP-galactose-4-epimerase deficiency": "ORPHA:308487", "Generalized epimerase deficiency galactosemia": "ORPHA:308487", "Generalized uridine diphosphate galactose-4-epimerase deficiency": "ORPHA:308487", "Chordoma": "ORPHA:178", "Notochordal sarcoma": "ORPHA:178", "Erythrocyte galactose epimerase deficiency": "ORPHA:308473", "Erythrocyte GALE deficiency": "ORPHA:308473", "Erythrocyte GALE-D": "ORPHA:308473", "Erythrocyte UDP-galactose-4-epimerase deficiency": "ORPHA:308473", "Erythrocyte epimerase deficiency galactosemia": "ORPHA:308473", "Erythrocyte uridine diphosphate galactose-4-epimerase deficiency": "ORPHA:308473", "Disorder of galactose metabolism": "ORPHA:308467", "Microcephalic osteodysplastic primordial dwarfism type II": "ORPHA:2637", "MOPD type II": "ORPHA:2637", "Majewski osteodysplastic primordial dwarfism type II": "ORPHA:2637", "Disorder of fructose metabolism": "ORPHA:308463", "Macrophagic myofasciitis": "ORPHA:592", "MMF": "ORPHA:592", "OBSOLETE: Aniridia": "ORPHA:77", "Disorder of glycolysis": "ORPHA:308459", "Disorder of neutral amino acid transport": "ORPHA:308451", "Aminoacylase deficiency": "ORPHA:308448", "Vitamin B12-responsive methylmalonic acidemia, type cblDv2": "ORPHA:308442", "Vitamin B12-responsive methylmalonic aciduria, type cblDv2": "ORPHA:308442", "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form": "ORPHA:308655", "GBE deficiency, fatal perinatal neuromuscular form": "ORPHA:308655", "GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form": "ORPHA:308655", "GSD type 4, fatal perinatal neuromuscular form": "ORPHA:308655", "GSDIV, fatal perinatal neuromuscular form": "ORPHA:308655", "Glycogen storage disease type 4, fatal perinatal neuromuscular form": "ORPHA:308655", "Glycogen storage disease type IV, fatal perinatal neuromuscular form": "ORPHA:308655", "Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form": "ORPHA:308655", "Glycogenosis type 4, fatal perinatal neuromuscular form": "ORPHA:308655", "Glycogenosis type IV, fatal perinatal neuromuscular form": "ORPHA:308655", "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form": "ORPHA:308638", "GBE deficiency, non progressive hepatic form": "ORPHA:308638", "GSD due to glycogen branching enzyme deficiency, non progressive hepatic form": "ORPHA:308638", "GSD type 4, non progressive hepatic form": "ORPHA:308638", "GSDIV, non progressive hepatic form": "ORPHA:308638", "Glycogen storage disease type 4, non progressive hepatic form": "ORPHA:308638", "Glycogen storage disease type IV, non progressive hepatic form": "ORPHA:308638", "Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form": "ORPHA:308638", "Glycogenosis type 4, non progressive hepatic form": "ORPHA:308638", "Glycogenosis type IV, non progressive hepatic form": "ORPHA:308638", "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form": "ORPHA:308621", "GBE deficiency, progressive hepatic form": "ORPHA:308621", "GSD due to glycogen branching enzyme deficiency, progressive hepatic form": "ORPHA:308621", "GSD type 4, progressive hepatic form": "ORPHA:308621", "GSDIV, progressive hepatic form": "ORPHA:308621", "Glycogen storage disease type 4, progressive hepatic form": "ORPHA:308621", "Glycogen storage disease type IV, progressive hepatic form": "ORPHA:308621", "Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form": "ORPHA:308621", "Glycogenosis type 4, progressive hepatic form": "ORPHA:308621", "Glycogenosis type IV, progressive hepatic form": "ORPHA:308621", "OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset": "ORPHA:308604", "OBSOLETE: Alpha-1,4-glucosidase acid deficiency, adult onset": "ORPHA:308604", "OBSOLETE: GSD due to acid maltase deficiency, adult onset": "ORPHA:308604", "OBSOLETE: GSD type 2, adulte onset": "ORPHA:308604", "OBSOLETE: Glycogen storage disease type 2, adult onset": "ORPHA:308604", "OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset": "ORPHA:308604", "OBSOLETE: Glycogenosis type 2, adult onset": "ORPHA:308604", "OBSOLETE: Pompe disease, adult onset": "ORPHA:308604", "OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset": "ORPHA:308573", "OBSOLETE: Alpha-1,4-glucosidase acid deficiency, juvenile onset": "ORPHA:308573", "OBSOLETE: GSD due to acid maltase deficiency, juvenile onset": "ORPHA:308573", "OBSOLETE: GSD type 2, juvenile onset": "ORPHA:308573", "OBSOLETE: Glycogen storage disease type 2, juvenile onset": "ORPHA:308573", "OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset": "ORPHA:308573", "OBSOLETE: Glycogenosis type 2, juvenile onset": "ORPHA:308573", "OBSOLETE: Pompe disease, juvenile onset": "ORPHA:308573", "Glycogen storage disease due to acid maltase deficiency, infantile onset": "ORPHA:308552", "Alpha-1,4-glucosidase acid deficiency, infantile onset": "ORPHA:308552", "GSD due to acid maltase deficiency, infantile onset": "ORPHA:308552", "GSD type 2, infantile onset": "ORPHA:308552", "GSD type II, infantile onset": "ORPHA:308552", "Glycogen storage disease type 2, infantile onset": "ORPHA:308552", "Glycogen storage disease type II, infantile onset": "ORPHA:308552", "Glycogenosis due to acid maltase deficiency, infantile onset": "ORPHA:308552", "Glycogenosis type 2, infantile onset": "ORPHA:308552", "Glycogenosis type II, infantile onset": "ORPHA:308552", "Pompe disease, infantile onset": "ORPHA:308552", "Glycogen storage disease due to glycogen synthase deficiency": "ORPHA:308520", "GSD due to glycogen synthase deficiency": "ORPHA:308520", "Glycogenosis due to glycogen synthase deficiency": "ORPHA:308520", "Metachromatic leukodystrophy, adult form": "ORPHA:309271", "Arylsulfatase A deficiency, adult form": "ORPHA:309271", "MLD, adult form": "ORPHA:309271", "Glycoproteinosis": "ORPHA:309279", "Alpha-mannosidosis, infantile form": "ORPHA:309282", "Lysosomal alpha-D-mannosidase deficiency, infantile form": "ORPHA:309282", "Alpha-mannosidosis, adult form": "ORPHA:309288", "Lysosomal alpha-D-mannosidase deficiency, adult form": "ORPHA:309288", "GM2 gangliosidosis, AB variant": "ORPHA:309246", "Hexosaminidase activator deficiency": "ORPHA:309246", "Atypical Gaucher disease due to saposin C deficiency": "ORPHA:309252", "Metachromatic leukodystrophy, late infantile form": "ORPHA:309256", "Arylsulfatase A deficiency, late infantile form": "ORPHA:309256", "MLD, late infantile form": "ORPHA:309256", "Metachromatic leukodystrophy, juvenile form": "ORPHA:309263", "Arylsulfatase A deficiency, juvenile form": "ORPHA:309263", "MLD, juvenile form": "ORPHA:309263", "Free sialic acid storage disease, infantile form": "ORPHA:309324", "ISSD": "ORPHA:309324", "Intermediate severe Salla disease": "ORPHA:309331", "Salla disease": "ORPHA:309334", "Lysosomal glycogen storage disease": "ORPHA:309337", "Sialidosis": "ORPHA:309294", "Mucopolysaccharidosis type 4A": "ORPHA:309297", "GALNS deficiency": "ORPHA:309297", "Galactosamine-6-sulfatase deficiency": "ORPHA:309297", "MPS4A": "ORPHA:309297", "MPSIVA": "ORPHA:309297", "Morquio disease type A": "ORPHA:309297", "Mucopolysaccharidosis type IVA": "ORPHA:309297", "N-acetylgalactosamine-6-sulfate sulfatase deficiency": "ORPHA:309297", "Mucopolysaccharidosis type 4B": "ORPHA:309310", "Beta-D-galactosidase deficiency": "ORPHA:309310", "MPS4B": "ORPHA:309310", "MPSIVB": "ORPHA:309310", "Morquio disease type B": "ORPHA:309310", "Mucopolysaccharidosis type IVB": "ORPHA:309310", "Disorder of sialic acid metabolism": "ORPHA:309319", "OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA": "ORPHA:309139", "OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mtDNA": "ORPHA:309139", "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes": "ORPHA:309136", "Hyper-beta-alaninemia": "ORPHA:309147", "Hyperalaninemia": "ORPHA:309147", "Gangliosidosis": "ORPHA:309144", "3-hydroxyacyl-CoA dehydrogenase deficiency": "ORPHA:309127", "Acyl-CoA dehydrogenase deficiency": "ORPHA:309120", "Metabolic disease due to other fatty acid oxidation disorder": "ORPHA:309133", "Disorder of carnitine cycle and carnitine transport": "ORPHA:309130", "Tay-Sachs disease, juvenile form": "ORPHA:309185", "Beta-hexosaminidase subunit alpha deficiency, juvenile form": "ORPHA:309185", "GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form": "ORPHA:309185", "GM2 gangliosidosis, Tay-Sachs variant, juvenile form": "ORPHA:309185", "HEXA disorder, juvenile form": "ORPHA:309185", "Subacute juvenile Tay-Sachs disease": "ORPHA:309185", "Tay-Sachs disease, infantile form": "ORPHA:309178", "Acute infantile Tay-Sachs disease": "ORPHA:309178", "Beta-hexosaminidase subunit alpha deficiency, infantile form": "ORPHA:309178", "GM2 gangliosidosis, Tay-Sachs variant, infantile form": "ORPHA:309178", "GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form": "ORPHA:309178", "HEXA disorder, infantile form": "ORPHA:309178", "OBSOLETE: Tay-Sachs disease, B1 variant": "ORPHA:309239", "OBSOLETE: GM2 gangliosidosis, B1 variant": "ORPHA:309239", "OBSOLETE: Hexosaminidase A deficiency, B1 variant": "ORPHA:309239", "Tay-Sachs disease, adult form": "ORPHA:309192", "Beta-hexosaminidase subunit alpha deficiency, adult form": "ORPHA:309192", "GM2 gangliosidosis, Tay-Sachs variant, adult form": "ORPHA:309192", "GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form": "ORPHA:309192", "HEXA disorder, adult form": "ORPHA:309192", "Late-onset Tay-Sachs disease": "ORPHA:309192", "Sandhoff disease, infantile form": "ORPHA:309155", "Beta-hexosaminidase subunit beta deficiency, infantile form": "ORPHA:309155", "GM2 gangliosidosis, Sandhoff variant, infantile form": "ORPHA:309155", "GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form": "ORPHA:309155", "GM2 gangliosidosis": "ORPHA:309152", "Sandhoff disease, adult form": "ORPHA:309169", "Beta-hexosaminidase subunit beta deficiency, adult form": "ORPHA:309169", "GM2 gangliosidosis, Sandhoff variant, adult form": "ORPHA:309169", "GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form": "ORPHA:309169", "Sandhoff disease, juvenile form": "ORPHA:309162", "Beta-hexosaminidase subunit beta deficiency, juvenile form": "ORPHA:309162", "GM2 gangliosidosis, Sandhoff variant, juvenile form": "ORPHA:309162", "GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form": "ORPHA:309162", "Autosomal recessive infantile hypercalcemia": "ORPHA:300547", "Familial infantile hypercalcemia with suppressed intact parathyroid hormone": "ORPHA:300547", "Follicular cholangitis and pancreatitis": "ORPHA:300552", "Follicular pancreatocholangitis": "ORPHA:300552", "Carcinoma of the ampulla of Vater": "ORPHA:300557", "Ampullary carcinoma": "ORPHA:300557", "Ampulloma": "ORPHA:300557", "Combined pulmonary fibrosis-emphysema syndrome": "ORPHA:300564", "CPFE": "ORPHA:300564", "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation": "ORPHA:300570", "Polymicrogyria due to TUBB2B mutation": "ORPHA:300573", "Oligodontia-cancer predisposition syndrome": "ORPHA:300576", "Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome": "ORPHA:300576", "Staphylococcal toxemia": "ORPHA:300579", "Multiple congenital anomalies-hypotonia-seizures syndrome type 2": "ORPHA:300496", "MCAHS type 2": "ORPHA:300496", "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome": "ORPHA:300501", "Onychocytic matricoma": "ORPHA:300504", "Acanthoma of the nail matrix": "ORPHA:300504", "Onychomatricoma": "ORPHA:300512", "Rare nail tumor": "ORPHA:300515", "Pseudohypoaldosteronism type 2D": "ORPHA:300525", "PHA2D": "ORPHA:300525", "Pseudohypoaldosteronism type 2E": "ORPHA:300530", "PHA2E": "ORPHA:300530", "DDOST-CDG": "ORPHA:300536", "CDG syndrome type Ir": "ORPHA:300536", "CDG-Ir": "ORPHA:300536", "CDG1R": "ORPHA:300536", "Carbohydrate deficient glycoprotein syndrome type Ir": "ORPHA:300536", "Congenital disorder of glycosylation type 1r": "ORPHA:300536", "Congenital disorder of glycosylation type Ir": "ORPHA:300536", "Diffuse large B-cell lymphoma of the central nervous system": "ORPHA:300849", "DLBCL of the CNS": "ORPHA:300849", "Aggressive B-cell non-Hodgkin lymphoma": "ORPHA:300846", "Aggressive B-cell NHL": "ORPHA:300846", "Primary cutaneous anaplastic large cell lymphoma": "ORPHA:300865", "Primary C-ALCL": "ORPHA:300865", "Regressive atypical histiocytosis": "ORPHA:300865", "T-cell/histiocyte rich large B cell lymphoma": "ORPHA:300857", "THRLBCL": "ORPHA:300857", "Hairy cell leukemia variant": "ORPHA:300878", "HCL-v": "ORPHA:300878", "Leukemic reticuloendotheliosis variant": "ORPHA:300878", "Prolymphocytic variant of HCL": "ORPHA:300878", "Prolymphocytic variant of hairy cell leukemia": "ORPHA:300878", "Splenic diffuse red pulp small B-cell lymphoma": "ORPHA:300869", "SDRPL": "ORPHA:300869", "Splenic diffuse red pulp lymphoma": "ORPHA:300869", "ALK-positive anaplastic large cell lymphoma": "ORPHA:300895", "ALK+ ALCL": "ORPHA:300895", "ALK+ anaplastic large cell lymphoma": "ORPHA:300895", "Diffuse large B-cell lymphoma with chronic inflammation": "ORPHA:300888", "DLBCL with chronic inflammation": "ORPHA:300888", "Juvenile amyotrophic lateral sclerosis": "ORPHA:300605", "JALS": "ORPHA:300605", "Juvenile Charcot disease": "ORPHA:300605", "Juvenile Lou Gehrig disease": "ORPHA:300605", "Laminopathy with striated muscle involvement": "ORPHA:300755", "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation": "ORPHA:300751", "Laminopathy with lipodystrophy": "ORPHA:300763", "Laminopathy with peripheral neuropathy": "ORPHA:300758", "Indolent B-cell non-Hodgkin lymphoma": "ORPHA:300842", "Indolent B-cell NHL": "ORPHA:300842", "Laminopathy with premature aging": "ORPHA:300766", "ALK-negative anaplastic large cell lymphoma": "ORPHA:300903", "ALK- ALCL": "ORPHA:300903", "ALK- anaplastic large cell lymphoma": "ORPHA:300903", "Marginal zone lymphoma": "ORPHA:300912", "Pituitary tumor": "ORPHA:304055", "OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance": "ORPHA:306436", "OBSOLETE: CSID with starch intolerance": "ORPHA:306436", "OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch intolerance": "ORPHA:306436", "OBSOLETE: Congenital sucrose intolerance with starch intolerance": "ORPHA:306436", "OBSOLETE: Disaccharide intolerance with starch intolerance": "ORPHA:306436", "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies": "ORPHA:306431", "Acquired adult-onset immunodeficiency": "ORPHA:306431", "Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies": "ORPHA:306431", "OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance": "ORPHA:306462", "OBSOLETE: CSID without starch intolerance": "ORPHA:306462", "OBSOLETE: Congenital sucrase-isomaltose malabsorption without starch intolerance": "ORPHA:306462", "OBSOLETE: Congenital sucrose intolerance without starch intolerance": "ORPHA:306462", "OBSOLETE: Disaccharide intolerance without starch intolerance": "ORPHA:306462", "OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance": "ORPHA:306446", "OBSOLETE: CSID with minimal starch tolerance": "ORPHA:306446", "OBSOLETE: Congenital sucrase-isomaltose malabsorption with minimal starch tolerance": "ORPHA:306446", "OBSOLETE: Congenital sucrose intolerance with minimal starch tolerance": "ORPHA:306446", "OBSOLETE: Disaccharide intolerance with minimal starch tolerance": "ORPHA:306446", "FADD-related immunodeficiency": "ORPHA:306550", "Myospherulosis": "ORPHA:306553", "Spherulocytosis": "ORPHA:306553", "Subcutaneous spherulocystic disease": "ORPHA:306553", "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome": "ORPHA:306542", "ALX1-related frontonasal dysplasia": "ORPHA:306542", "Frontonasal dysplasia type 3": "ORPHA:306542", "Porencephaly-microcephaly-bilateral congenital cataract syndrome": "ORPHA:306547", "Congenital hereditary facial paralysis-variable hearing loss syndrome": "ORPHA:306530", "Congenital hereditary facial palsy with variable deafness": "ORPHA:306530", "Congenital hereditary facial palsy with variable hearing loss": "ORPHA:306530", "Congenital hereditary facial paralysis with variable deafness": "ORPHA:306530", "Congenital hereditary facial paralysis-variable deafness syndrome": "ORPHA:306530", "OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary": "ORPHA:306539", "OBSOLETE: Genetic primary hypomagnesemia with normocalciuria": "ORPHA:306522", "Isolated hereditary congenital facial paralysis": "ORPHA:306527", "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis": "ORPHA:306516", "FHHNC": "ORPHA:306516", "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis": "ORPHA:306516", "Michellis-Castrillo syndrome": "ORPHA:306516", "OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria": "ORPHA:306519", "LAMB2-related infantile-onset nephrotic syndrome": "ORPHA:306507", "Autosomal recessive spastic paraplegia type 48": "ORPHA:306511", "SPG48": "ORPHA:306511", "PTEN hamartoma tumor syndrome": "ORPHA:306498", "PHTS": "ORPHA:306498", "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome": "ORPHA:306504", "ILNEB syndrome": "ORPHA:306504", "JEB with interstitial lung disease and nephrotic syndrome": "ORPHA:306504", "Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome": "ORPHA:306504", "OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance": "ORPHA:306474", "OBSOLETE: CSID with starch and lactose intolerance": "ORPHA:306474", "OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance": "ORPHA:306474", "OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance": "ORPHA:306474", "OBSOLETE: Disaccharide intolerance with starch and lactose intolerance": "ORPHA:306474", "OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance": "ORPHA:306486", "OBSOLETE: CSID without sucrose intolerance": "ORPHA:306486", "OBSOLETE: Congenital sucrose-isomaltose malabsorption without sucrose intolerance": "ORPHA:306486", "OBSOLETE: Disaccharide intolerance without sucrose intolerance": "ORPHA:306486", "Rare parkinsonian syndrome due to neurodegenerative disease": "ORPHA:306666", "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome": "ORPHA:306661", "Hypercalcemic tumoral calcinosis": "ORPHA:306661", "Familial normophosphatemic tumoral calcinosis": "ORPHA:306658", "Non-infectious anterior uveitis": "ORPHA:306648", "Non-infectious iridocyclitis": "ORPHA:306648", "Complication after organ transplantation": "ORPHA:306644", "Rare intoxication due to medical products": "ORPHA:306640", "Rare tumor of liver and intrahepatic biliary tract": "ORPHA:306636", "Rare tumor of liver and IBT": "ORPHA:306636", "Rare tumor of gallbladder and extrahepatic biliary tract": "ORPHA:306633", "Rare tumor of gallbladder and EBT": "ORPHA:306633", "X-linked complicated spastic paraplegia type 1": "ORPHA:306617", "SPG1": "ORPHA:306617", "OBSOLETE: X-linked Opitz G/BBB syndrome": "ORPHA:306597", "OBSOLETE: X-linked Opitz BBB/G syndrome": "ORPHA:306597", "OBSOLETE: X-linked Opitz syndrome": "ORPHA:306597", "OBSOLETE: XLOS": "ORPHA:306597", "OBSOLETE: Autosomal dominant Opitz G/BBB syndrome": "ORPHA:306588", "OBSOLETE: ADOS": "ORPHA:306588", "OBSOLETE: Autosomal dominant Opitz BBB/G syndrome": "ORPHA:306588", "OBSOLETE: Autosomal dominant Opitz syndrome": "ORPHA:306588", "Hereditary sodium channelopathy-related small fibers neuropathy": "ORPHA:306577", "OBSOLETE: Autosomal dominant childhood-onset cortical cataract": "ORPHA:306561", "OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract": "ORPHA:306561", "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome": "ORPHA:306558", "OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral": "ORPHA:295091", "OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral": "ORPHA:295091", "OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral": "ORPHA:295089", "OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral": "ORPHA:295089", "OBSOLETE: Congenital absence of both forearm and hand, bilateral": "ORPHA:295095", "OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral": "ORPHA:295095", "OBSOLETE: Congenital absence of both forearm and hand, unilateral": "ORPHA:295093", "OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral": "ORPHA:295093", "OBSOLETE: Congenital absence of both lower leg and foot, bilateral": "ORPHA:295099", "OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral": "ORPHA:295099", "OBSOLETE: Congenital absence of both lower leg and foot, unilateral": "ORPHA:295097", "OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral": "ORPHA:295097", "OBSOLETE: Acheiria, bilateral": "ORPHA:295103", "OBSOLETE: Congenital absence of hand, bilateral": "ORPHA:295103", "OBSOLETE: Acheiria, unilateral": "ORPHA:295101", "OBSOLETE: Congenital absence of hand, unilateral": "ORPHA:295101", "OBSOLETE: Apodia, bilateral": "ORPHA:295107", "OBSOLETE: Congenital absence of foot, bilateral": "ORPHA:295107", "OBSOLETE: Apodia, unilateral": "ORPHA:295105", "OBSOLETE: Congenital absence of foot, unilateral": "ORPHA:295105", "OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral": "ORPHA:295112", "OBSOLETE: Thumb hypodactyly, bilateral": "ORPHA:295112", "OBSOLETE: Thumb oligodactyly, bilateral": "ORPHA:295112", "OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral": "ORPHA:295110", "OBSOLETE: Thumb hypodactyly, unilateral": "ORPHA:295110", "OBSOLETE: Thumb oligodactyly, unilateral": "ORPHA:295110", "OBSOLETE: Adactyly of foot, unilateral": "ORPHA:295116", "OBSOLETE: Congenital absence of toes, unilateral": "ORPHA:295116", "OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral": "ORPHA:295114", "OBSOLETE: Adactyly of hand, bilateral": "ORPHA:295114", "OBSOLETE: Digits 2-5 hypodactyly, bilateral": "ORPHA:295114", "OBSOLETE: Digits 2-5 oligodactyly, bilateral": "ORPHA:295114", "OBSOLETE: Split hand, unilateral": "ORPHA:295120", "OBSOLETE: Ectrodactyly of hand, unilateral": "ORPHA:295120", "OBSOLETE: Adactyly of foot, bilateral": "ORPHA:295118", "OBSOLETE: Congenital absence of toes, bilateral": "ORPHA:295118", "OBSOLETE: Split hand, bilateral": "ORPHA:295122", "OBSOLETE: Ectrodactyly of hand, bilateral": "ORPHA:295122", "OBSOLETE: Split foot, unilateral": "ORPHA:295124", "OBSOLETE: Split foot, bilateral": "ORPHA:295126", "OBSOLETE: Brachydactyly of fingers, unilateral": "ORPHA:295128", "OBSOLETE: Short fingers, unilateral": "ORPHA:295128", "OBSOLETE: Brachydactyly of fingers, bilateral": "ORPHA:295130", "OBSOLETE: Short fingers, bilateral": "ORPHA:295130", "OBSOLETE: Brachydactyly of toes, unilateral": "ORPHA:295132", "OBSOLETE: Short toes, unilateral": "ORPHA:295132", "OBSOLETE: Brachydactyly of toes, bilateral": "ORPHA:295134", "OBSOLETE: Short toes, bilateral": "ORPHA:295134", "OBSOLETE: Symbrachydactyly of hand and foot, unilateral": "ORPHA:295136", "OBSOLETE: Symbrachydactyly of hand and foot, bilateral": "ORPHA:295138", "OBSOLETE: Hyperphalangy, unilateral": "ORPHA:295140", "OBSOLETE: Hyperphalangy in digits 2-5": "ORPHA:295140", "OBSOLETE: Supernumerary phalanges, unilateral": "ORPHA:295140", "OBSOLETE: Supernumerary phalanx, unilateral": "ORPHA:295140", "OBSOLETE: Hyperphalangy, bilateral": "ORPHA:295142", "OBSOLETE: Supernumerary phalanges, bilateral": "ORPHA:295142", "OBSOLETE: Supernumerary phalanx, bilateral": "ORPHA:295142", "OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral": "ORPHA:295144", "OBSOLETE: Preaxial polydactyly type 1, unilateral": "ORPHA:295144", "OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral": "ORPHA:295146", "OBSOLETE: Preaxial polydactyly type 1, bilateral": "ORPHA:295146", "OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral": "ORPHA:295148", "OBSOLETE: Preaxial polydactyly type 2, unilateral": "ORPHA:295148", "OBSOLETE: Unilateral PPD2": "ORPHA:295148", "OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral": "ORPHA:295150", "OBSOLETE: Bilateral PPD2": "ORPHA:295150", "OBSOLETE: Preaxial polydactyly type 2, bilateral": "ORPHA:295150", "OBSOLETE: Polydactyly of an index finger, unilateral": "ORPHA:295152", "OBSOLETE: Preaxial polydactyly type 3, unilateral": "ORPHA:295152", "OBSOLETE: Postaxial polydactyly type A, unilateral": "ORPHA:295163", "OBSOLETE: Polysyndactyly, bilateral": "ORPHA:295161", "OBSOLETE: Preaxial polydactyly type 4, bilateral": "ORPHA:295161", "OBSOLETE: Polysyndactyly, unilateral": "ORPHA:295159", "OBSOLETE: Preaxial polydactyly type 4, unilateral": "ORPHA:295159", "OBSOLETE: Polydactyly of an index finger, bilateral": "ORPHA:295154", "OBSOLETE: Preaxial polydactyly type 3, bilateral": "ORPHA:295154", "OBSOLETE: Central polydactyly of fingers, unilateral": "ORPHA:295171", "OBSOLETE: Mesoaxial polydactyly of fingers, unilateral": "ORPHA:295171", "OBSOLETE: Mirror hand, unilateral": "ORPHA:295171", "OBSOLETE: Postaxial polydactyly type B, bilateral": "ORPHA:295169", "OBSOLETE: Postaxial polydactyly type B, unilateral": "ORPHA:295167", "OBSOLETE: Postaxial polydactyly type A, bilateral": "ORPHA:295165", "OBSOLETE: Postaxial polydactyly of toes, unilateral": "ORPHA:295179", "OBSOLETE: Preaxial polydactyly of toes, bilateral": "ORPHA:295177", "OBSOLETE: Bifid great toes, bilateral": "ORPHA:295177", "OBSOLETE: Bifid halluces, bilateral": "ORPHA:295177", "OBSOLETE: Bifid hallux, bilateral": "ORPHA:295177", "OBSOLETE: Preaxial polydactyly of toes, unilateral": "ORPHA:295175", "OBSOLETE: Bifid great toes, unilateral": "ORPHA:295175", "OBSOLETE: Bifid halluces, unilateral": "ORPHA:295175", "OBSOLETE: Bifid hallux, unilateral": "ORPHA:295175", "OBSOLETE: Central polydactyly of fingers, bilateral": "ORPHA:295173", "OBSOLETE: Mesoaxial polydactyly of fingers, bilateral": "ORPHA:295173", "OBSOLETE: Mirror hand, bilateral": "ORPHA:295173", "Zygodactyly type 1": "ORPHA:295187", "SD1, Weidenreich type": "ORPHA:295187", "SD1a": "ORPHA:295187", "Syndactyly type 1, Weidenreich type": "ORPHA:295187", "Syndactyly type 1a": "ORPHA:295187", "Zygodactyly, Weidenreich type": "ORPHA:295187", "OBSOLETE: Central polydactyly of toes, bilateral": "ORPHA:295185", "OBSOLETE: Mesoaxial polydactyly of toes, bilateral": "ORPHA:295185", "OBSOLETE: Mirror foot, bilateral": "ORPHA:295185", "OBSOLETE: Central polydactyly of toes, unilateral": "ORPHA:295183", "OBSOLETE: Mesoaxial polydactyly of toes, unilateral": "ORPHA:295183", "OBSOLETE: Mirror foot, unilateral": "ORPHA:295183", "OBSOLETE: Postaxial polydactyly of toes, bilateral": "ORPHA:295181", "Zygodactyly type 4": "ORPHA:295193", "SD1, Castilla type": "ORPHA:295193", "SD1d": "ORPHA:295193", "Syndactyly type 1, Castilla type": "ORPHA:295193", "Syndactyly type 1d": "ORPHA:295193", "Zygodactyly, Castilla type": "ORPHA:295193", "Synpolydactyly type 1": "ORPHA:295195", "SD2, Vordingborg type": "ORPHA:295195", "SD2a": "ORPHA:295195", "SPD, Vordingborg type": "ORPHA:295195", "SPD1": "ORPHA:295195", "Synpolydactyly, Vordingborg type": "ORPHA:295195", "Zygodactyly type 2": "ORPHA:295189", "SD1, Lueken type": "ORPHA:295189", "SD1b": "ORPHA:295189", "Syndactyly type 1, Lueken type": "ORPHA:295189", "Syndactyly type 1b": "ORPHA:295189", "Zygodactyly, Lueken type": "ORPHA:295189", "Zygodactyly type 3": "ORPHA:295191", "SD1, Montagu type": "ORPHA:295191", "SD1c": "ORPHA:295191", "Syndactyly type 1, Montagu type": "ORPHA:295191", "Syndactyly type 1c": "ORPHA:295191", "Zygodactyly, Montagu type": "ORPHA:295191", "Congenital vertical talus, unilateral": "ORPHA:295201", "Congenital vertical talus, bilateral": "ORPHA:295203", "Synpolydactyly type 2": "ORPHA:295197", "SD2, Debeer type": "ORPHA:295197", "SD2b": "ORPHA:295197", "SPD, Debeer type": "ORPHA:295197", "SPD2": "ORPHA:295197", "Synpolydactyly, Debeer type": "ORPHA:295197", "Synpolydactyly type 3": "ORPHA:295199", "SD2, Malik type": "ORPHA:295199", "SD2c": "ORPHA:295199", "SPD, Malik type": "ORPHA:295199", "SPD3": "ORPHA:295199", "Synpolydactyly, Malik type": "ORPHA:295199", "OBSOLETE: Humero-radial synostosis, unilateral": "ORPHA:295209", "OBSOLETE: Humero-radial fusion, unilateral": "ORPHA:295209", "OBSOLETE: Humero-radial synostosis, bilateral": "ORPHA:295211", "OBSOLETE: Humero-radial fusion, bilateral": "ORPHA:295211", "OBSOLETE: Humero-radio-ulnar synostosis, unilateral": "ORPHA:295205", "OBSOLETE: Humero-radio-ulnar fusion, unilateral": "ORPHA:295205", "OBSOLETE: Humero-radio-ulnar synostosis, bilateral": "ORPHA:295207", "OBSOLETE: Humero-radio-ulnar fusion, bilateral": "ORPHA:295207", "OBSOLETE: Radio-ulnar synostosis, unilateral": "ORPHA:295217", "OBSOLETE: Radio-ulnar fusion, unilateral": "ORPHA:295217", "OBSOLETE: Radio-ulnar synostosis, bilateral": "ORPHA:295219", "OBSOLETE: Radio-ulnar fusion, bilateral": "ORPHA:295219", "OBSOLETE: Humero-ulnar synostosis, unilateral": "ORPHA:295213", "OBSOLETE: Humero-ulnar fusion, unilateral": "ORPHA:295213", "OBSOLETE: Humero-ulnar synostosis, bilateral": "ORPHA:295215", "OBSOLETE: Humero-ulnar fusion, bilateral": "ORPHA:295215", "Congenital genu flexum": "ORPHA:295232", "Congenital genu recurvatum": "ORPHA:295229", "OBSOLETE: Congenital patella dislocation, bilateral": "ORPHA:295237", "OBSOLETE: Congenital patella dislocation, unilateral": "ORPHA:295234", "OBSOLETE: Madelung deformity, bilateral": "ORPHA:295223", "OBSOLETE: Madelung deformity, unilateral": "ORPHA:295221", "Congenital elbow dislocation, bilateral": "ORPHA:295227", "Congenital elbow dislocation, unilateral": "ORPHA:295225", "Macrodactyly of fingers, bilateral": "ORPHA:295241", "Macrodactyly of hand, bilateral": "ORPHA:295241", "Macrodactyly of fingers, unilateral": "ORPHA:295239", "Macrodactyly of hand, unilateral": "ORPHA:295239", "Macrodactyly of toes, bilateral": "ORPHA:295245", "Macrodactyly of foot, bilateral": "ORPHA:295245", "Macrodactyly of toes, unilateral": "ORPHA:295243", "Macrodactyly of foot, unilateral": "ORPHA:295243", "Disorder of thiamine metabolism and transport": "ORPHA:298644", "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency": "ORPHA:300179", "Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness": "ORPHA:300179", "Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss": "ORPHA:300179", "FKBP14-related EDS": "ORPHA:300179", "FKBP22-deficient EDS": "ORPHA:300179", "Kyphoscoliotic EDS due to FKBP22 deficiency": "ORPHA:300179", "kEDS-FKBP14": "ORPHA:300179", "Charcot-Marie-Tooth disease type 2P": "ORPHA:300319", "CMT2P": "ORPHA:300319", "Persistent polyclonal B-cell lymphocytosis": "ORPHA:300324", "PPBL": "ORPHA:300324", "Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes": "ORPHA:300324", "Congenital cataract-hearing loss-severe developmental delay syndrome": "ORPHA:300313", "Congenital cataract-deafness-severe developmental delay syndrome": "ORPHA:300313", "Huppke-Brendel syndrome": "ORPHA:300313", "Lethal neurodegenerative disorder due to copper transport defect": "ORPHA:300313", "Severe congenital hypochromic anemia with ringed sideroblasts": "ORPHA:300298", "Severe congenital hypochromic sideroblastic anemia": "ORPHA:300298", "11p15.4 microduplication syndrome": "ORPHA:300305", "Dup(11)p(15.4)": "ORPHA:300305", "Trisomy 11p15.4": "ORPHA:300305", "Connective tissue disorder due to lysyl hydroxylase-3 deficiency": "ORPHA:300284", "Bone fragility-contractures-arterial rupture-deafness syndrome": "ORPHA:300284", "Bone fragility-contractures-arterial rupture-hearing loss syndrome": "ORPHA:300284", "Connective tissue disorder due to LH3 deficiency": "ORPHA:300284", "Transient infantile hypertriglyceridemia and hepatosteatosis": "ORPHA:300293", "Transient infantile hypertriglyceridemia and fatty liver": "ORPHA:300293", "Pituitary carcinoma": "ORPHA:300385", "Sagliker syndrome": "ORPHA:300493", "X-linked acrogigantism": "ORPHA:300373", "Familial infantile gigantism": "ORPHA:300373", "Hereditary infantile gigantism": "ORPHA:300373", "Hereditary pituitary hyperplasia": "ORPHA:300373", "Infantile gigantism due to pituitary hyperplasia": "ORPHA:300373", "X-LAG": "ORPHA:300373", "Progeroid and marfanoid aspect-lipodystrophy syndrome": "ORPHA:300382", "Autosomal systemic lupus erythematosus": "ORPHA:300345", "Autosomal SLE": "ORPHA:300345", "Familial SLE": "ORPHA:300345", "Familial systemic lupus erythematosus": "ORPHA:300345", "PLCG2-associated antibody deficiency and immune dysregulation": "ORPHA:300359", "FACU": "ORPHA:300359", "Familial atypical cold urticaria": "ORPHA:300359", "Familial cold urticaria with common variable immunodeficiency": "ORPHA:300359", "PLAID": "ORPHA:300359", "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome": "ORPHA:300333", "EBS with nephropathy": "ORPHA:300333", "Epidermolysis bullosa simplex with nephropathy": "ORPHA:300333", "Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome": "ORPHA:300333", "OBSOLETE: Congenital blindness due to retinal non-attachment": "ORPHA:300337", "OBSOLETE: Disorder with acute infantile liver failure": "ORPHA:464682", "Fever-associated acute infantile liver failure syndrome": "ORPHA:464724", "Basel-Vanagaite-Smirin-Yosef syndrome": "ORPHA:464738", "Familial cavitary optic disc anomaly": "ORPHA:464760", "Familial CODA": "ORPHA:464760", "Familial gastric type 1 neuroendocrine tumor": "ORPHA:464756", "Immune-mediated acquired neuromuscular junction disease": "ORPHA:464764", "Symptomatic form of HFE-related hemochromatosis": "ORPHA:465508", "Symptomatic form of classic hemochromatosis": "ORPHA:465508", "Symptomatic form of hemochromatosis type 1": "ORPHA:465508", "Spastic paraplegia-severe developmental delay-epilepsy syndrome": "ORPHA:464282", "SPPRS syndrome": "ORPHA:464282", "Spastic paraplegia-psychomotor retardation-seizures syndrome": "ORPHA:464282", "Short stature-brachydactyly-obesity-global developmental delay syndrome": "ORPHA:464288", "SBIDDS": "ORPHA:464288", "DYRK1A-related intellectual disability syndrome": "ORPHA:464306", "DYRK1A syndrome": "ORPHA:464306", "NON RARE IN EUROPE: Infantile capillary hemangioma": "ORPHA:464293", "Kaposiform lymphangiomatosis": "ORPHA:464329", "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome": "ORPHA:464321", "Cutaneovisceral angiomatosis-thrombocytopenia syndrome": "ORPHA:464321", "MLT": "ORPHA:464321", "Multifocal lymphangioendotheliomatosis with thrombocytopenia": "ORPHA:464321", "Verrucous hemangioma": "ORPHA:464318", "Intellectual disability syndrome due to a DYRK1A point mutation": "ORPHA:464311", "DYRK1A-related intellectual disability syndrome due to a point mutation": "ORPHA:464311", "NEK9-related lethal skeletal dysplasia": "ORPHA:464366", "Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome": "ORPHA:464366", "Benign metanephric tumor": "ORPHA:464359", "Catastrophic antiphospholipid syndrome": "ORPHA:464343", "Catastrophic APS": "ORPHA:464343", "BENTA disease": "ORPHA:464336", "B-cell expansion with NF-kB and T-cell anergy disease": "ORPHA:464336", "Acquired methemoglobinemia": "ORPHA:464453", "Drug-induced methemoglobinemia": "ORPHA:464453", "COG6-CGD": "ORPHA:464443", "CDG syndrome type IIL": "ORPHA:464443", "CDG-IIL": "ORPHA:464443", "CDG2L": "ORPHA:464443", "Congenital disorder of glycosylation type 2l": "ORPHA:464443", "Congenital disorder of glycosylation type IIL": "ORPHA:464443", "Primary dystonia, DYT27 type": "ORPHA:464440", "Neonatal alloimmune neutropenia": "ORPHA:464370", "NON RARE IN EUROPE: Adenocarcinoma of stomach": "ORPHA:464463", "NON RARE IN EUROPE: Gastric adenocarcinoma": "ORPHA:464463", "Paracetamol poisoning": "ORPHA:464458", "Acetaminophen poisoning": "ORPHA:464458", "Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG": "ORPHA:639", "Anti-MAG neuropathy": "ORPHA:639", "Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein": "ORPHA:639", "Lymphedema with yellow nails": "ORPHA:662", "YNS": "ORPHA:662", "Yellow nail syndrome": "ORPHA:662", "Toxic epidermal necrolysis": "ORPHA:537", "Lyell syndrome": "ORPHA:537", "SAPHO syndrome": "ORPHA:793", "Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome": "ORPHA:793", "1p35.2 microdeletion syndrome": "ORPHA:456298", "Del(1)(p35.2)": "ORPHA:456298", "Deletion 1p35.2": "ORPHA:456298", "Monosomy 1p35.2": "ORPHA:456298", "X-linked myotubular myopathy-abnormal genitalia syndrome": "ORPHA:456328", "Xq28 contiguous gene deletion syndrome": "ORPHA:456328", "Hereditary neuroendocrine tumor of small intestine": "ORPHA:456333", "Hereditary SB-NET": "ORPHA:456333", "Hereditary SI-NET": "ORPHA:456333", "Hereditary neuroendocrine tumor of small bowel": "ORPHA:456333", "Small bowel hereditary neuroendocrine tumor": "ORPHA:456333", "Small intestine hereditary neuroendocrine tumor": "ORPHA:456333", "Infantile multisystem neurologic-endocrine-pancreatic disease": "ORPHA:456312", "IMNEPD": "ORPHA:456312", "Hereditary sensory neuropathy-deafness-dementia syndrome": "ORPHA:456318", "HSAN1E": "ORPHA:456318", "HSN1E": "ORPHA:456318", "Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome": "ORPHA:456318", "NTHL1-related attenuated familial adenomatous polyposis": "ORPHA:454840", "NTHL1-related AFAP": "ORPHA:454840", "NTHL1-related attenuated FAP": "ORPHA:454840", "OBSOLETE: Type 1 interferonopathy with immunodeficiency": "ORPHA:454872", "Acute radiation syndrome": "ORPHA:454831", "Acute radiation sickness": "ORPHA:454831", "Avian influenza": "ORPHA:454836", "Corticobasal syndrome": "ORPHA:454887", "Variably protease-sensitive prionopathy": "ORPHA:454742", "Endometrioid carcinoma of ovary": "ORPHA:454723", "Holmes-Adie syndrome": "ORPHA:454718", "Adie syndrome": "ORPHA:454718", "Tonic pupil-tendon areflexia syndrome": "ORPHA:454718", "Plasma cell leukemia": "ORPHA:454714", "PCL": "ORPHA:454714", "OBSOLETE: Pleomorphic salivary gland adenoma": "ORPHA:454821", "Isolated tracheoesophageal fistula": "ORPHA:454750", "H-type tracheoesophageal fistula": "ORPHA:454750", "Kuru": "ORPHA:454745", "Polyendocrine-polyneuropathy syndrome": "ORPHA:453533", "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency": "ORPHA:453521", "SCAR17": "ORPHA:453521", "Spinocerebellar ataxia autosomal recessive type 17": "ORPHA:453521", "Anti-p200 pemphigoid": "ORPHA:454710", "Progressive muscular atrophy": "ORPHA:454706", "PMA": "ORPHA:454706", "Acquired Creutzfeldt-Jakob disease": "ORPHA:454700", "Primary cutaneous plasmacytosis": "ORPHA:451602", "Cutaneous pseudolymphoma": "ORPHA:451607", "Familial congenital nasolacrimal duct obstruction": "ORPHA:451612", "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome": "ORPHA:453499", "Au-Kline syndrome": "ORPHA:453499", "HNRNPK-related neurodevelopmental disorder": "ORPHA:453499", "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation": "ORPHA:453504", "Congenital insensitivity to pain with severe intellectual disability": "ORPHA:453510", "Congenital absence of pain with severe intellectual disability": "ORPHA:453510", "Congenital analgesia with severe intellectual disability": "ORPHA:453510", "Congenital insensitivity to pain with preserved temperature sensation": "ORPHA:453510", "Congenital insensitivity to pain with severe non-progressive cognitive delay": "ORPHA:453510", "Polyclonal hyperviscosity syndrome": "ORPHA:450322", "Eosinophilic angiocentric fibrosis": "ORPHA:449566", "IgG4-related eosinophilic angiocentric fibrosis": "ORPHA:449566", "IgG4-related ophthalmic disease": "ORPHA:449563", "Symptomatic form of fragile X syndrome in female carriers": "ORPHA:449291", "IgG4-related aortitis": "ORPHA:449400", "IgG4-related kidney disease": "ORPHA:449395", "IgG4-related submandibular gland disease": "ORPHA:449432", "K\u00fcttner tumor": "ORPHA:449432", "IgG4-related pachymeningitis": "ORPHA:449427", "Idiopathic hypertrophic pachymeningitis": "ORPHA:449427", "Scedosporiosis": "ORPHA:449280", "Snakebite envenomation": "ORPHA:449285", "Pleural empyema": "ORPHA:449266", "NON RARE IN EUROPE: Primary bile acid malabsorption": "ORPHA:449262", "OBSOLETE: X-linked acrogigantism due to Xq26 microduplication": "ORPHA:448372", "OBSOLETE: Familial infantile gigantism due to Xq26 microduplication": "ORPHA:448372", "OBSOLETE: Familial infantile gigantism due to dup(X)q(26)": "ORPHA:448372", "OBSOLETE: X-LAG due to dup(X)q(26)": "ORPHA:448372", "Genetic primary orthostatic hypotension": "ORPHA:448426", "OBSOLETE: X-linked acrogigantism due to a point mutation": "ORPHA:448348", "OBSOLETE: Familial infantile gigantism due to a point mutation": "ORPHA:448348", "OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation": "ORPHA:448348", "Isolated focal non-epidermolytic palmoplantar keratoderma": "ORPHA:448264", "Progressive autosomal recessive ataxia-deafness syndrome": "ORPHA:448251", "Lichtenstein-Knorr syndrome": "ORPHA:448251", "Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome": "ORPHA:448251", "SCAR19": "ORPHA:448251", "Ectopia cordis": "ORPHA:448270", "Regressive spondylometaphyseal dysplasia": "ORPHA:448267", "CAD-CDG": "ORPHA:448010", "CDG syndrome type Iz": "ORPHA:448010", "CDG-Iz": "ORPHA:448010", "CDG1Z": "ORPHA:448010", "Carbohydrate deficient glycoprotein syndrome type Iz": "ORPHA:448010", "Congenital disorder of glycosylation type 1z": "ORPHA:448010", "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome": "ORPHA:447997", "ASCT1 deficiency": "ORPHA:447997", "Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome": "ORPHA:447997", "Autosomal recessive brachyolmia": "ORPHA:448242", "Brachyolmia, Hobaek/Toledo type": "ORPHA:448242", "Zika virus disease": "ORPHA:448237", "Zika virus infection": "ORPHA:448237", "Progressive scapulohumeroperoneal distal myopathy": "ORPHA:447977", "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome": "ORPHA:447974", "Partial duplication of the short arm of chromosome 19 syndrome": "ORPHA:447985", "Partial duplication of chromosome 19p": "ORPHA:447985", "Partial trisomy of chromosome 19p": "ORPHA:447985", "Partial trisomy of the short arm of chromosome 19": "ORPHA:447985", "19p13.3 microduplication syndrome": "ORPHA:447980", "Dup(19)(p13.3)": "ORPHA:447980", "Combined oxidative phosphorylation defect type 25": "ORPHA:447954", "COXPD25": "ORPHA:447954", "Autosomal dominant Charcot-Marie-Tooth disease type 2V": "ORPHA:447964", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation": "ORPHA:447964", "CMT2V": "ORPHA:447964", "Hereditary adult-onset painful axonal polyneuropathy": "ORPHA:447964", "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome": "ORPHA:447961", "OBSOLETE: C1 inhibitor deficiency": "ORPHA:459353", "Rare genetic capillary malformation": "ORPHA:459526", "Immunodeficiency due to a complement cascade component deficiency": "ORPHA:459345", "Immunodeficiency due to a complement regulatory deficiency": "ORPHA:459348", "Rare genetic vascular tumor": "ORPHA:459543", "Rare genetic venous malformation": "ORPHA:459548", "OBSOLETE: Genetic primary lymphedema": "ORPHA:459530", "Genetic complex vascular malformation with associated anomalies": "ORPHA:459537", "Genetic hemangiolymphangioma": "ORPHA:459537", "Lethal multiple congenital anomalies/dysmorphic syndrome": "ORPHA:459787", "NON RARE IN EUROPE: Gender dysphoria": "ORPHA:459690", "NON RARE IN EUROPE: Juvenile idiopathic scoliosis": "ORPHA:459696", "Rare combined vascular malformation": "ORPHA:458837", "Common cystic lymphatic malformation": "ORPHA:458833", "Rare vascular malformation of major vessels": "ORPHA:458844", "OBSOLETE: Primary lymphedema with associated anomalies": "ORPHA:458841", "Ataxia-oculomotor apraxia type 4": "ORPHA:459033", "AOA4": "ORPHA:459033", "Spondyloepiphyseal dysplasia, Stanescu type": "ORPHA:459051", "SED, Stanescu type": "ORPHA:459051", "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome": "ORPHA:459061", "Developmental delay-short stature-dysmorphic features-sparse hair syndrome": "ORPHA:459061", "Loucks-Innes syndrome": "ORPHA:459061", "Autosomal recessive spastic paraplegia type 75": "ORPHA:459056", "SPG75": "ORPHA:459056", "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome": "ORPHA:459074", "7q36.3 microduplication syndrome": "ORPHA:459074", "Dup(7)(q36.3)": "ORPHA:459074", "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome": "ORPHA:459070", "NON RARE IN EUROPE: Specific language impairment": "ORPHA:458713", "Idiopathic spontaneous coronary artery dissection": "ORPHA:458718", "Idiopathic SCAD": "ORPHA:458718", "Composite hemangioendothelioma": "ORPHA:458758", "Retiform hemangioendothelioma": "ORPHA:458763", "Papillary intralymphatic angioendothelioma": "ORPHA:458768", "Dabska tumor": "ORPHA:458768", "PILA": "ORPHA:458768", "Primary intralymphatic angioendothelioma": "ORPHA:458768", "Congenital hemangioma": "ORPHA:458775", "Partially involuting congenital hemangioma": "ORPHA:458785", "Mixed cystic lymphatic malformation": "ORPHA:458792", "Mixed cystic lymphangioma": "ORPHA:458792", "Spinocerebellar ataxia type 41": "ORPHA:458798", "SCA41": "ORPHA:458798", "Spinocerebellar ataxia type 42": "ORPHA:458803", "SCA42": "ORPHA:458803", "OBSOLETE: Vascular tumor with associated anomalies": "ORPHA:458827", "Rare capillary malformation with associated anomalies": "ORPHA:458830", "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome": "ORPHA:457485", "MINDS syndrome": "ORPHA:457485", "Smith-Kingsmore syndrome": "ORPHA:457485", "Progressive myoclonic epilepsy type 9": "ORPHA:457265", "EPM9": "ORPHA:457265", "PME type 9": "ORPHA:457265", "Progressive myoclonic epilepsy due to LMNB2 deficiency": "ORPHA:457265", "Progressive myoclonus epilepsy type 9": "ORPHA:457265", "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome": "ORPHA:457279", "Squamous cell carcinoma of the oral tongue": "ORPHA:457252", "OTSCC": "ORPHA:457252", "Oral tongue squamous cell carcinoma": "ORPHA:457252", "X-linked intellectual disability-hypotonia-movement disorder syndrome": "ORPHA:457260", "X-linked intellectual disability-short stature-overweight syndrome": "ORPHA:457240", "Clear cell sarcoma of kidney": "ORPHA:457246", "CCSK": "ORPHA:457246", "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome": "ORPHA:457395", "Multiple mitochondrial dysfunctions syndrome type 4": "ORPHA:457406", "MMDS4": "ORPHA:457406", "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement": "ORPHA:457375", "Martsolf-like syndrome": "ORPHA:457375", "Complex lethal osteochondrodysplasia": "ORPHA:457378", "Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type": "ORPHA:457378", "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome": "ORPHA:457359", "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome": "ORPHA:457365", "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome": "ORPHA:457284", "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome": "ORPHA:457351", "Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome": "ORPHA:457351", "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome": "ORPHA:457185", "COQ4-related neonatal encephalomyopathy": "ORPHA:457185", "Isolated splenogonadal fusion": "ORPHA:457083", "SGF": "ORPHA:457083", "TAFRO syndrome": "ORPHA:457077", "Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome": "ORPHA:457077", "Actinomycosis": "ORPHA:457095", "Predisposition to invasive fungal disease due to CARD9 deficiency": "ORPHA:457088", "Invasive candidiasis-deep dermatophytosis syndrome": "ORPHA:457088", "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect": "ORPHA:457223", "Syndromic sensorineural deafness due to COXPD": "ORPHA:457223", "Syndromic sensorineural hearing loss due to COXPD": "ORPHA:457223", "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome": "ORPHA:457212", "KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome": "ORPHA:457193", "Arboleda-Tham syndrome": "ORPHA:457193", "KAT6A syndrome": "ORPHA:457193", "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome": "ORPHA:457205", "ANOAC": "ORPHA:457205", "Axonal neuropathy-optic atrophy-cognitive deficit syndrome": "ORPHA:457205", "Polyglucosan body myopathy type 2": "ORPHA:456369", "Pseudohypoparathyroidism with Albright hereditary osteodystrophy": "ORPHA:457059", "Pseudohypoparathyroidism without Albright hereditary osteodystrophy": "ORPHA:457062", "Congenital nemaline myopathy": "ORPHA:457074", "Autosomal dominant mitochondrial myopathy with exercise intolerance": "ORPHA:457050", "NON RARE IN EUROPE: Idiopathic infantile nystagmus": "ORPHA:651", "NON RARE IN EUROPE: Congenital idiopathic nystagmus": "ORPHA:651", "NON RARE IN EUROPE: Infantile nystagmus syndrome": "ORPHA:651", "NON RARE IN EUROPE: Motor congenital nystagmus": "ORPHA:651", "Erythrokeratodermia variabilis": "ORPHA:317", "EKV": "ORPHA:317", "Erythrokeratodermia variabilis, Mendes da Costa type": "ORPHA:317", "OBSOLETE: Genetic optic atrophy": "ORPHA:103", "Short stature due to growth hormone qualitative anomaly": "ORPHA:629", "Kowarski syndrome": "ORPHA:629", "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia": "ORPHA:632", "Autosomal recessive hypohidrotic ectodermal dysplasia": "ORPHA:248", "AR-HED": "ORPHA:248", "Autosomal recessive anhidrotic ectodermal dysplasia": "ORPHA:248", "Autosomal dominant hypohidrotic ectodermal dysplasia": "ORPHA:1810", "AD-HED": "ORPHA:1810", "Autosomal dominant anhidrotic ectodermal dysplasia": "ORPHA:1810", "Vogt-Koyanagi-Harada disease": "ORPHA:3437", "Uveomenigitic syndrome": "ORPHA:3437", "Idiopathic pulmonary fibrosis": "ORPHA:2032", "IPF": "ORPHA:2032", "Bronchiolitis obliterans": "ORPHA:1303", "Constrictive bronchiolitis": "ORPHA:1303", "Obliterative bronchiolitis": "ORPHA:1303", "Tracheobronchopathia osteochondroplastica": "ORPHA:3348", "Tracheopathia osteoplastica": "ORPHA:3348", "Idiopathic chronic eosinophilic pneumonia": "ORPHA:2902", "Chronic eosinophilic pneumonia": "ORPHA:2902", "Cryptogenic organizing pneumonia": "ORPHA:1302", "BOOP": "ORPHA:1302", "Bronchiolitis obliterans organizing pneumonia": "ORPHA:1302", "COP": "ORPHA:1302", "Occipital horn syndrome": "ORPHA:198", "Familial exudative vitreoretinopathy": "ORPHA:891", "Criswick-Schepens syndrome": "ORPHA:891", "FEVR": "ORPHA:891", "NON RARE IN EUROPE: Maternally-inherited diabetes and deafness": "ORPHA:225", "NON RARE IN EUROPE: MIDD": "ORPHA:225", "NON RARE IN EUROPE: Maternally-inherited diabetes and hearing loss": "ORPHA:225", "NON RARE IN EUROPE: Mitochondrial diabetes": "ORPHA:225", "Scorpion envenomation": "ORPHA:466677", "Euthyroid Graves orbitopathy": "ORPHA:466682", "Euthyroid Graves ophthalmopathy": "ORPHA:466682", "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome": "ORPHA:466688", "Supratip dysplasia": "ORPHA:466695", "Rare disease with malignant hyperthermia": "ORPHA:466658", "NON RARE IN EUROPE: Colorectal cancer": "ORPHA:466667", "Cyanide poisoning": "ORPHA:466670", "NON RARE IN EUROPE: Post-herpetic neuralgia": "ORPHA:466673", "Exercise-induced malignant hyperthermia": "ORPHA:466650", "Exertional heat stroke": "ORPHA:466650", "SMARCA4-deficient sarcoma of thorax": "ORPHA:466962", "SMARCA4-deficient thoracic sarcoma": "ORPHA:466962", "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation": "ORPHA:466950", "Desanto-Shinawi syndrome due to WAC point mutation": "ORPHA:466950", "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome": "ORPHA:466943", "DESSH": "ORPHA:466943", "Desanto-Shinawi syndrome": "ORPHA:466943", "Seizures-scoliosis-macrocephaly syndrome": "ORPHA:466926", "SSM syndrome": "ORPHA:466926", "VPS11-related autosomal recessive hypomyelinating leukodystrophy": "ORPHA:466934", "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy": "ORPHA:466934", "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome": "ORPHA:466921", "Autosomal dominant thrombocytopenia with platelet secretion defect": "ORPHA:466806", "OBSOLETE: LIMS2-related myopathy": "ORPHA:466801", "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome": "ORPHA:466794", "Autosomal recessive spinocerebellar ataxia type 21": "ORPHA:466794", "SCAR21": "ORPHA:466794", "Macrocephaly-intellectual disability-left ventricular non compaction syndrome": "ORPHA:466791", "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect": "ORPHA:466784", "COXPD28": "ORPHA:466784", "Combined oxidative phosphorylation defect type 28": "ORPHA:466784", "Autosomal recessive Charcot-Marie-Tooth disease type 2X": "ORPHA:466775", "ARCMT2X": "ORPHA:466775", "Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation": "ORPHA:466775", "CMT2X": "ORPHA:466775", "Autosomal dominant Charcot-Marie-Tooth disease type 2Z": "ORPHA:466768", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation": "ORPHA:466768", "CMT2Z": "ORPHA:466768", "OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome": "ORPHA:466732", "OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome": "ORPHA:466732", "Familial patent arterial duct": "ORPHA:466729", "Autosomal recessive spastic paraplegia type 77": "ORPHA:466722", "SPG77": "ORPHA:466722", "Martinique crinkled retinal pigment epitheliopathy": "ORPHA:466718", "MCRPE": "ORPHA:466718", "TMEM199-CDG": "ORPHA:466703", "CDG syndrome type IIp": "ORPHA:466703", "CDG-IIp": "ORPHA:466703", "CDG2P": "ORPHA:466703", "Carbohydrate deficient glycoprotein syndrome type IIp": "ORPHA:466703", "Congenital disorder of glycosylation type 2p": "ORPHA:466703", "Congenital disorder of glycosylation type IIp": "ORPHA:466703", "Fetal encasement syndrome": "ORPHA:465824", "Genetic otorhinolaryngologic disease": "ORPHA:466084", "Genetic hemoglobinopathy": "ORPHA:466066", "Class I glucose-6-phosphate dehydrogenase deficiency": "ORPHA:466026", "Class I G6PD deficiency": "ORPHA:466026", "Severe hemolytic anemia due to G6PD deficiency": "ORPHA:466026", "Intellectual disability-epilepsy-extrapyramidal syndrome": "ORPHA:468620", "Microcephalic cortical malformations-short stature due to RTTN deficiency": "ORPHA:468631", "Tubulinopathy-associated dysgyria": "ORPHA:467166", "Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome": "ORPHA:467166", "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome": "ORPHA:467176", "Cryptogenic multifocal ulcerous stenosing enteritis": "ORPHA:468635", "CMUSE": "ORPHA:468635", "Chronic enteropathy associated with SLCO2A1 gene": "ORPHA:468641", "CEAS": "ORPHA:468641", "Autosomal recessive spastic paraplegia type 74": "ORPHA:468661", "SPG74": "ORPHA:468661", "Isolated generalized anhidrosis with normal sweat glands": "ORPHA:468666", "White-Sutton syndrome": "ORPHA:468678", "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome": "ORPHA:468678", "CCDC115-CDG": "ORPHA:468684", "CDG syndrome type IIo": "ORPHA:468684", "CDG-IIo": "ORPHA:468684", "CDG2O": "ORPHA:468684", "Carbohydrate deficient glycoprotein syndrome type IIo": "ORPHA:468684", "Congenital disorder of glycosylation type 2o": "ORPHA:468684", "Congenital disorder of glycosylation type IIo": "ORPHA:468684", "Colobomatous macrophthalmia-microcornea syndrome": "ORPHA:468672", "MACOM syndrome": "ORPHA:468672", "Severe primary trimethylaminuria": "ORPHA:468726", "TMAU": "ORPHA:468726", "SLC39A8-CDG": "ORPHA:468699", "CDG syndrome type IIn": "ORPHA:468699", "CDG-IIn": "ORPHA:468699", "CDG2N": "ORPHA:468699", "Carbohydrate deficient glycoprotein syndrome type IIn": "ORPHA:468699", "Congenital disorder of glycosylation type 2n": "ORPHA:468699", "Congenital disorder of glycosylation type IIn": "ORPHA:468699", "SLC39A8 deficiency": "ORPHA:468699", "Rhizomelic chondrodysplasia punctata type 5": "ORPHA:468717", "Autosomal recessive spastic paraplegia type 62": "ORPHA:401785", "SPG62": "ORPHA:401785", "Autosomal recessive spastic paraplegia type 61": "ORPHA:401780", "SPG61": "ORPHA:401780", "Autosomal recessive spastic paraplegia type 60": "ORPHA:401800", "SPG60": "ORPHA:401800", "Autosomal recessive spastic paraplegia type 59": "ORPHA:401795", "SPG59": "ORPHA:401795", "Proximal myopathy with extrapyramidal signs": "ORPHA:401768", "Pancytopenia-developmental delay syndrome": "ORPHA:401764", "Trilineage bone marrow failure-developmental delay syndrome": "ORPHA:401764", "Optic atrophy-intellectual disability syndrome": "ORPHA:401777", "BBSOAS": "ORPHA:401777", "Bosch-Boonstra-Schaaf optic atrophy syndrome": "ORPHA:401777", "Autosomal recessive spastic paraplegia type 68": "ORPHA:401825", "SPG68": "ORPHA:401825", "Autosomal recessive spastic paraplegia type 69": "ORPHA:401830", "SPG69": "ORPHA:401830", "Autosomal recessive spastic paraplegia type 70": "ORPHA:401835", "SPG70": "ORPHA:401835", "Autosomal recessive spastic paraplegia type 71": "ORPHA:401840", "SPG71": "ORPHA:401840", "Autosomal recessive spastic paraplegia type 63": "ORPHA:401805", "SPG63": "ORPHA:401805", "Autosomal recessive spastic paraplegia type 64": "ORPHA:401810", "SPG64": "ORPHA:401810", "Autosomal recessive spastic paraplegia type 66": "ORPHA:401815", "SPG66": "ORPHA:401815", "Autosomal recessive spastic paraplegia type 67": "ORPHA:401820", "SPG67": "ORPHA:401820", "Childhood-onset spasticity with hyperglycinemia": "ORPHA:401866", "Childhood-onset spasticity with variant non-ketotic hyperglycinemia": "ORPHA:401866", "Spasticity-ataxia-gait anomalies syndrome": "ORPHA:401866", "Multiple mitochondrial dysfunctions syndrome type 1": "ORPHA:401869", "MMDS1": "ORPHA:401869", "NFU1 deficiency": "ORPHA:401869", "Multiple mitochondrial dysfunctions syndrome type 2": "ORPHA:401874", "BOLA3 deficiency": "ORPHA:401874", "MMDS2": "ORPHA:401874", "Autosomal spastic paraplegia type 72": "ORPHA:401849", "SPG72": "ORPHA:401849", "Lipoic acid biosynthesis defect": "ORPHA:401854", "Lipoate biosynthesis defect": "ORPHA:401854", "Lipoic acid synthetase deficiency": "ORPHA:401859", "Lipoyl transferase 1 deficiency": "ORPHA:401862", "Rare genetic female infertility": "ORPHA:400008", "Rare genetic disorder with obstructive azoospermia": "ORPHA:400003", "Rare genetic disorder due to impaired sperm transport": "ORPHA:400003", "Male infertility due to obstructive azoospermia of genetic origin": "ORPHA:399998", "Male infertility due to impaired sperm transport of genetic origin": "ORPHA:399998", "Rare male infertility due to adrenal disorder of genetic origin": "ORPHA:399994", "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin": "ORPHA:399983", "Rare male infertility due to gonadotropic axis disorder of genetic origin": "ORPHA:399983", "Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin": "ORPHA:399983", "Rare genetic male infertility": "ORPHA:399980", "Rare female infertility due to an implantation defect": "ORPHA:399882", "Rare female infertility due to gonadal dysgenesis": "ORPHA:399877", "Rare female infertility due to ovarian dysgenesis": "ORPHA:399877", "Female infertility due to an implantation defect of genetic origin": "ORPHA:400025", "Rare female infertility due to an anomaly of ovarian function of genetic origin": "ORPHA:400022", "Rare female infertility due to adrenal disorder of genetic origin": "ORPHA:400018", "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin": "ORPHA:400011", "Rare female infertility due to gonadotropic axis disorder of genetic origin": "ORPHA:400011", "Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin": "ORPHA:400011", "Hepatitis delta": "ORPHA:402823", "HDV": "ORPHA:402823", "Hepatitis D virus": "ORPHA:402823", "Fibrolamellar hepatocellular carcinoma": "ORPHA:401920", "FHCC": "ORPHA:401920", "Fibrolamellar hepatocarcinoma": "ORPHA:401920", "AXIN2-related attenuated familial adenomatous polyposis": "ORPHA:401911", "AXIN2-related AFAP": "ORPHA:401911", "AXIN2-related attenuated FAP": "ORPHA:401911", "AXIN2-related attenuated familial polyposis coli": "ORPHA:401911", "Huntington disease-like syndrome due to C9ORF72 expansions": "ORPHA:401901", "C9ORF72-related Huntington disease phenocopy": "ORPHA:401901", "C9ORF72-related Huntington disease-like syndrome": "ORPHA:401901", "Huntington disease phenocopy due to C9ORF72 expansions": "ORPHA:401901", "Familial median cleft of the upper and lower lips": "ORPHA:401942", "14q24.1q24.3 microdeletion syndrome": "ORPHA:401935", "Del(14)(q24.1q24.3)": "ORPHA:401935", "Monosomy 14q24.1q24.3": "ORPHA:401935", "9q31.1q31.3 microdeletion syndrome": "ORPHA:401923", "Del(9)(q31.1q31.3)": "ORPHA:401923", "Monosomy 9q31.1q31.3": "ORPHA:401923", "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome": "ORPHA:401959", "Episodic ataxia with slurred speech": "ORPHA:401953", "Episodic ataxia type 8": "ORPHA:401953", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency": "ORPHA:401948", "CA-VA deficiency": "ORPHA:401948", "Moyamoya disease with early-onset achalasia": "ORPHA:401945", "1p31p32 microdeletion syndrome": "ORPHA:401986", "Del(1)(p31p32)": "ORPHA:401986", "Monosomy 1p31p32": "ORPHA:401986", "Autosomal recessive spondylometaphyseal dysplasia, M\u00e9garban\u00e9 type": "ORPHA:401979", "MEND syndrome": "ORPHA:401973", "Male EBP disorder with neurological defects": "ORPHA:401973", "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons": "ORPHA:401964", "Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons": "ORPHA:401964", "CMT2 with giant axons": "ORPHA:401964", "HMSN2 with giant axons": "ORPHA:401964", "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering": "ORPHA:402003", "Lichen myxedematosus": "ORPHA:402007", "Cold-induced sweating syndrome-hyperthermia spectrum": "ORPHA:401993", "Karyomegalic interstitial nephritis": "ORPHA:401996", "KIN": "ORPHA:401996", "Systemic karyomegaly": "ORPHA:401996", "Acute myeloid leukemia with t(9;11)(p22;q23)": "ORPHA:402017", "AML with t(9;11)(p22;q23)": "ORPHA:402017", "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)": "ORPHA:402020", "AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)": "ORPHA:402020", "Acute myeloid leukemia with t(6;9)(p23;q34)": "ORPHA:402014", "AML with t(6;9)(p23;q34)": "ORPHA:402014", "Primary eosinophilic gastrointestinal disease": "ORPHA:402029", "EGID": "ORPHA:402029", "Eosinophilic colitis": "ORPHA:402035", "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)": "ORPHA:402023", "Megakaryoblastic AML with t(1;22)(p13;q13)": "ORPHA:402023", "Acute myeloid leukemia with NPM1 somatic mutations": "ORPHA:402026", "AML with NPM1 somatic mutations": "ORPHA:402026", "Progressive myoclonic epilepsy type 5": "ORPHA:402082", "EPM5": "ORPHA:402082", "PME type 5": "ORPHA:402082", "Progressive myoclonus epilepsy type 5": "ORPHA:402082", "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly": "ORPHA:402364", "Autosomal recessive distal renal tubular acidosis": "ORPHA:402041", "AR dRTA": "ORPHA:402041", "Autosomal recessive distal RTA": "ORPHA:402041", "Familial bicuspid aortic valve": "ORPHA:402075", "Familial BAV": "ORPHA:402075", "Scott syndrome": "ORPHA:806", "Polyarticular juvenile idiopathic arthritis": "ORPHA:404580", "Juvenile polyarthritis": "ORPHA:404580", "Juvenile polyarticular arthritis": "ORPHA:404580", "Polyarticular JIA": "ORPHA:404580", "Rare genetic bone development disorder": "ORPHA:404584", "Rare genetic skeletal development disorder": "ORPHA:404584", "Rare female infertility due to oocyte maturation defect": "ORPHA:404469", "Severe intellectual disability-progressive spastic diplegia syndrome": "ORPHA:404473", "CTNNB1 syndrome": "ORPHA:404473", "Multisystemic smooth muscle dysfunction syndrome": "ORPHA:404463", "Female infertility due to zona pellucida defect": "ORPHA:404466", "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome": "ORPHA:404451", "Alacrimia-choreoathetosis-liver dysfunction syndrome": "ORPHA:404454", "NGLY1 deficiency": "ORPHA:404454", "NGLY1-CDDG": "ORPHA:404454", "Tatton-Brown-Rahman syndrome": "ORPHA:404443", "DNMT3A-related overgrowth syndrome": "ORPHA:404443", "Tatton-Brown-Rahman overgrowth syndrome": "ORPHA:404443", "ADNP syndrome": "ORPHA:404448", "ADNP-related syndromic intellectual disability-autism spectrum disorder": "ORPHA:404448", "HVDAS": "ORPHA:404448", "Helsmoortel-Van Der Aa Syndrome": "ORPHA:404448", "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome": "ORPHA:404437", "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency": "ORPHA:404440", "Genetic syndrome with limb malformations as a major feature": "ORPHA:404577", "Genetic syndrome with limb reduction defects": "ORPHA:404574", "Dysostosis of genetic origin with limb anomaly as a major feature": "ORPHA:404571", "Dysostosis of genetic origin": "ORPHA:404568", "Familial atypical multiple mole melanoma syndrome": "ORPHA:404560", "B-K mole syndrome": "ORPHA:404560", "FAMM-PC syndrome": "ORPHA:404560", "FAMMM syndrome": "ORPHA:404560", "Familial atypical mole syndrome": "ORPHA:404560", "Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome": "ORPHA:404560", "Familial dysplastic nevus syndrome": "ORPHA:404560", "Melanoma-pancreatic cancer syndrome": "ORPHA:404560", "Adenosine deaminase 2 deficiency": "ORPHA:404553", "DADA2": "ORPHA:404553", "Deficiency of adenosine deaminase 2": "ORPHA:404553", "Vasculitis due to ADA2 deficiency": "ORPHA:404553", "Vasculitis due to DADA2": "ORPHA:404553", "DITRA": "ORPHA:404546", "Deficiency of IL-36R antagonist": "ORPHA:404546", "Deficiency of IL-36Ra": "ORPHA:404546", "X-linked distal hereditary motor neuropathy": "ORPHA:404538", "X-linked dHMN": "ORPHA:404538", "X-linked distal spinal muscular atrophy": "ORPHA:404538", "Spinal muscular atrophy with respiratory distress type 2": "ORPHA:404521", "Diaphragmatic spinal muscular atrophy type 2": "ORPHA:404521", "SMARD2": "ORPHA:404521", "Severe infantile axonal neuropathy with respiratory failure type 2": "ORPHA:404521", "X-linked spinal muscular atrophy with respiratory distress": "ORPHA:404521", "Acquired cystic disease-associated renal cell carcinoma": "ORPHA:404514", "Clear cell papillary renal cell carcinoma": "ORPHA:404511", "Chondromyxoid fibroma": "ORPHA:404507", "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency": "ORPHA:404499", "Autosomal recessive spinocerebellar ataxia type 15": "ORPHA:404499", "SCAR15": "ORPHA:404499", "Salih ataxia": "ORPHA:404499", "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency": "ORPHA:404493", "SCAR23": "ORPHA:404493", "Spinocerebellar ataxia autosomal recessive type 23": "ORPHA:404493", "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome": "ORPHA:404481", "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome": "ORPHA:404476", "GLOW syndrome": "ORPHA:404476", "Central retinal vein occlusion": "ORPHA:411527", "CRVO": "ORPHA:411527", "NON RARE IN EUROPE: Melanoma": "ORPHA:411533", "Mild phosphoribosylpyrophosphate synthetase superactivity": "ORPHA:411536", "Mild PRPP synthetase superactivity": "ORPHA:411536", "Mild PRPS1 superactivity": "ORPHA:411536", "Severe phosphoribosylpyrophosphate synthetase superactivity": "ORPHA:411543", "Severe PRPP synthetase superactivity": "ORPHA:411543", "Severe PRPS1 superactivity": "ORPHA:411543", "Wolfram-like syndrome": "ORPHA:411590", "Insulin autoimmune syndrome": "ORPHA:411593", "Hirata disease": "ORPHA:411593", "Hereditary late-onset Parkinson disease": "ORPHA:411602", "Autosomal dominant late-onset Parkinson disease": "ORPHA:411602", "LOPD": "ORPHA:411602", "Infantile nephropathic cystinosis": "ORPHA:411629", "Pontocerebellar hypoplasia type 10": "ORPHA:411493", "CLP1-related pontocerebellar hypoplasia": "ORPHA:411493", "PCH10": "ORPHA:411493", "Williams-Campbell syndrome": "ORPHA:411501", "Angelman syndrome due to a point mutation": "ORPHA:411511", "Angelman syndrome due to imprinting defect in 15q11-q13": "ORPHA:411515", "Generalized eruptive keratoacanthoma": "ORPHA:411777", "GEKA": "ORPHA:411777", "Generalized eruptive keratoacanthomas of Grzybowski": "ORPHA:411777", "Grzybowski syndrome": "ORPHA:411777", "Maternal riboflavin deficiency": "ORPHA:411712", "Familial isolated trichomegaly": "ORPHA:411788", "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome": "ORPHA:411986", "Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome": "ORPHA:411986", "NON RARE IN EUROPE: Metabolic syndrome": "ORPHA:411969", "13q12.3 microdeletion syndrome": "ORPHA:412035", "Del(13)(q12.3)": "ORPHA:412035", "Monosomy 13q12.3": "ORPHA:412035", "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome": "ORPHA:412022", "FDLAB syndrome": "ORPHA:412022", "Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome": "ORPHA:412022", "Traboulsi syndrome": "ORPHA:412022", "Ocular cystinosis": "ORPHA:411641", "Adult-onset cystinosis": "ORPHA:411641", "Non-nephropathic cystinosis": "ORPHA:411641", "Juvenile nephropathic cystinosis": "ORPHA:411634", "Intermediate cystinosis": "ORPHA:411634", "Juvenile cystinosis": "ORPHA:411634", "Proton-pump inhibitor-responsive esophageal eosinophilia": "ORPHA:411696", "PPI-REE": "ORPHA:411696", "PPI-responsive esophageal eosinophilia": "ORPHA:411696", "PPIRee": "ORPHA:411696", "Renal agenesis": "ORPHA:411709", "Pulmonary non-tuberculous mycobacterial infection": "ORPHA:411703", "Non-tuberculous mycobacterial lung disease": "ORPHA:411703", "Generalized isolated dystonia": "ORPHA:376724", "Genetic syndromic esophageal malformation": "ORPHA:371445", "Genetic hyperaldosteronism": "ORPHA:371861", "Congenital disorder of glycosylation with developmental anomaly": "ORPHA:371235", "CDG with developmental anomaly": "ORPHA:371235", "Congenital disorder of glycosylation with nephropathy as a major feature": "ORPHA:371207", "CDG with nephropathy as a major feature": "ORPHA:371207", "Congenital disorder of glycosylation with skin involvement": "ORPHA:371200", "CDG with skin involvement": "ORPHA:371200", "Congenital disorder of glycosylation with deafness as a major feature": "ORPHA:371212", "CDG with deafness as a major feature": "ORPHA:371212", "CDG with hearing loss as a major feature": "ORPHA:371212", "Congenital disorder of glycosylation with hearing loss as a major feature": "ORPHA:371212", "Genetic neurovascular malformation": "ORPHA:371436", "Genetic periodic paralysis": "ORPHA:371433", "Sphingolipidosis with epilepsy": "ORPHA:371442", "OBSOLETE: Genetic cerebrovascular dementia": "ORPHA:371439", "Multicentric osteolysis-nodulosis-arthropathy spectrum": "ORPHA:371428", "MONA spectrum": "ORPHA:371428", "NAO syndrome": "ORPHA:85196", "Nodulosis-arthropathy-osteolysis syndrome": "ORPHA:85196", "Hypotonia-speech impairment-severe cognitive delay syndrome": "ORPHA:371364", "IHPRF syndrome": "ORPHA:371364", "Infantile hypotonia-psychomotor retardation-characteristic facies syndrome": "ORPHA:371364", "Persistent combined dystonia": "ORPHA:391711", "Necrotizing enterocolitis": "ORPHA:391673", "Short stature-optic atrophy-Pelger-Hu\u00ebt anomaly syndrome": "ORPHA:391677", "SOPH syndrome": "ORPHA:391677", "Mucinous adenocarcinoma of the appendix": "ORPHA:391723", "Appendiceal mucinous adenocarcinoma": "ORPHA:391723", "Rare genetic dystonia": "ORPHA:391799", "Rare genetic dystonic disorder": "ORPHA:391799", "OBSOLETE: Syndromic frontonasal dysplasia": "ORPHA:391479", "OBSOLETE: Syndromic median cleft syndrome": "ORPHA:391479", "Frontorhiny": "ORPHA:391474", "ALX3-related frontonasal dysplasia": "ORPHA:391474", "Frontonasal dysplasia type 1": "ORPHA:391474", "Isolated median cleft face syndrome": "ORPHA:391474", "Transient neonatal myasthenia gravis": "ORPHA:391504", "NMG": "ORPHA:391504", "Neonatal myasthenia gravis": "ORPHA:391504", "Transient neonatal acquired myasthenia": "ORPHA:391504", "Transient neonatal autoimmune myasthenia gravis": "ORPHA:391504", "Juvenile myasthenia gravis": "ORPHA:391497", "Childhood myasthenia gravis": "ORPHA:391497", "Juvenile acquired myasthenia": "ORPHA:391497", "Juvenile autoimmune myasthenia gravis": "ORPHA:391497", "Adult-onset myasthenia gravis": "ORPHA:391490", "Adult-onset acquired myasthenia": "ORPHA:391490", "Adult-onset autoimmune myasthenia gravis": "ORPHA:391490", "STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome": "ORPHA:391487", "Feingold syndrome type 2": "ORPHA:391646", "Brachydactyly-short stature-microcephaly syndrome": "ORPHA:391646", "Brunner-Winter syndrome type 2": "ORPHA:391646", "FGLDS2": "ORPHA:391646", "FS2": "ORPHA:391646", "MMT type 2": "ORPHA:391646", "Microcephaly-digital anomalies-normal intelligence syndrome type 2": "ORPHA:391646", "Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2": "ORPHA:391646", "Feingold syndrome type 1": "ORPHA:391641", "Brunner-Winter syndrome type 1": "ORPHA:391641", "Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1": "ORPHA:391641", "FGLDS1": "ORPHA:391641", "FS1": "ORPHA:391641", "MMT type 1": "ORPHA:391641", "MODED syndrome type 1": "ORPHA:391641", "Microcephaly-digital anomalies-normal intelligence syndrome type 1": "ORPHA:391641", "Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1": "ORPHA:391641", "Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1": "ORPHA:391641", "ODED syndrome type 1": "ORPHA:391641", "Oculo-digito-esophageal-duodenal syndrome type 1": "ORPHA:391641", "Homozygous familial hypercholesterolemia": "ORPHA:391665", "HoFH": "ORPHA:391665", "OBSOLETE: Cowpox infection": "ORPHA:391658", "Off-periods in Parkinson disease not responding to oral treatment": "ORPHA:391655", "Glomus tumor": "ORPHA:391651", "Fatal post-viral neurodegenerative disorder": "ORPHA:391343", "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome": "ORPHA:391348", "SURF1-related Charcot-Marie-Tooth disease type 4": "ORPHA:391351", "CMT4K": "ORPHA:391351", "Charcot-Marie-Tooth disease type 4K": "ORPHA:391351", "SURF1-related CMT4": "ORPHA:391351", "SURF1-related severe demyelinating Charcot-Marie-Tooth disease": "ORPHA:391351", "Growth retardation-mild developmental delay-chronic hepatitis syndrome": "ORPHA:391366", "FOXP1 Syndrome": "ORPHA:391372", "FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome": "ORPHA:391372", "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome": "ORPHA:391376", "Asparagine synthetase deficiency": "ORPHA:391376", "Disorder of asparagine metabolism": "ORPHA:391381", "Familial episodic pain syndrome": "ORPHA:391384", "FEPS": "ORPHA:391384", "Familial episodic pain syndrome with predominantly upper body involvement": "ORPHA:391389", "Familial episodic pain syndrome with predominantly lower limb involvement": "ORPHA:391392", "Hereditary sensory and autonomic neuropathy type 7": "ORPHA:391397", "CIP with hyperhidrosis and gastrointestinal dysfunction": "ORPHA:391397", "Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction": "ORPHA:391397", "HSAN with hyperhidrosis and gastrointestinal dysfunction": "ORPHA:391397", "HSAN7": "ORPHA:391397", "Hereditary sensory and autonomic neuropathy type VII": "ORPHA:391397", "Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction": "ORPHA:391397", "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome": "ORPHA:391408", "Atypical juvenile parkinsonism": "ORPHA:391411", "HSD10 disease": "ORPHA:391417", "2-methyl-3-hydroxybutyric aciduria": "ORPHA:391417", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency": "ORPHA:391417", "HSD10 deficiency": "ORPHA:391417", "MHBD deficiency": "ORPHA:391417", "HSD10 disease, infantile type": "ORPHA:391428", "2-methyl-3-hydroxybutyric aciduria, classic type": "ORPHA:391428", "2-methyl-3-hydroxybutyric aciduria, infantile type": "ORPHA:391428", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type": "ORPHA:391428", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type": "ORPHA:391428", "HSD10 deficiency, classic type": "ORPHA:391428", "HSD10 deficiency, infantile type": "ORPHA:391428", "HSD10 disease, classic type": "ORPHA:391428", "MHBD deficiency, classic type": "ORPHA:391428", "MHBD deficiency, infantile type": "ORPHA:391428", "HSD10 disease, neonatal type": "ORPHA:391457", "2-methyl-3-hydroxybutyric aciduria, neonatal type": "ORPHA:391457", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type": "ORPHA:391457", "HSD10 deficiency, neonatal type": "ORPHA:391457", "MHBD deficiency, neonatal type": "ORPHA:391457", "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome": "ORPHA:391307", "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression": "ORPHA:391316", "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency": "ORPHA:391311", "Predisposition to severe viral infection due to STAT1 deficiency": "ORPHA:391311", "STAT1 deficiency": "ORPHA:391311", "X-linked calvarial hyperostosis": "ORPHA:391327", "East Texas bleeding disorder": "ORPHA:391320", "FV East Texas bleeding disorder": "ORPHA:391320", "Factor V East Texas bleeding disorder": "ORPHA:391320", "X-linked osteoporosis with fractures": "ORPHA:391330", "Refractory celiac disease": "ORPHA:398063", "Refractory CD": "ORPHA:398063", "Refractory sprue": "ORPHA:398063", "Squamous cell carcinoma of the penis": "ORPHA:398058", "Penile squamous cell carcinoma": "ORPHA:398058", "Adenocarcinoma of the penis": "ORPHA:398053", "Penile adenocarcinoma": "ORPHA:398053", "Malignant tumor of penis": "ORPHA:398043", "Cancer of penis": "ORPHA:398043", "Malignant penile tumor": "ORPHA:398043", "Penile cancer": "ORPHA:398043", "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome": "ORPHA:397973", "MOMES syndrome": "ORPHA:397973", "Charcot-Marie-Tooth disease type 2R": "ORPHA:397968", "CMT2R": "ORPHA:397968", "Combined immunodeficiency due to MALT1 deficiency": "ORPHA:397964", "TCR-alpha-beta-positive T-cell deficiency": "ORPHA:397959", "TCR-alpha-beta+ T-cell deficiency": "ORPHA:397959", "Microcephaly-thin corpus callosum-intellectual disability syndrome": "ORPHA:397951", "Autosomal spastic paraplegia type 58": "ORPHA:397946", "Autosomal spastic ataxia type 2": "ORPHA:397946", "SPAX2": "ORPHA:397946", "SPG58": "ORPHA:397946", "MAN1B1-CDG": "ORPHA:397941", "Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency": "ORPHA:397941", "Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency": "ORPHA:397941", "Congenital disorder of glycosylation type II due to MAN1B1 deficiency": "ORPHA:397941", "Intellectual disability-truncal obesity syndrome": "ORPHA:397941", "Polyglucosan body myopathy type 1": "ORPHA:397937", "PGBM1": "ORPHA:397937", "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome": "ORPHA:397933", "IQSEC2-related syndromic intellectual disability": "ORPHA:397933", "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome": "ORPHA:397927", "Ferro-cerebro-cutaneous syndrome": "ORPHA:397922", "Cerebro-cutaneous syndrome with iron overload": "ORPHA:397922", "Combined immunodeficiency due to IKK2 deficiency": "ORPHA:397787", "CID due to IKK2 deficiency": "ORPHA:397787", "Combined immunodeficiency due to I-kappa-B kinase 2 deficiency": "ORPHA:397787", "T+ B+ severe combined immunodeficiency": "ORPHA:397802", "Periodic paralysis with transient compartment-like syndrome": "ORPHA:397755", "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies": "ORPHA:397758", "Retinal dystrophy with inner nuclear layer and ganglion cell anomalies": "ORPHA:397758", "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome": "ORPHA:397744", "Peripheral neuropathy-myopathy-hoarseness-deafness syndrome": "ORPHA:397744", "Periodic paralysis with later-onset distal motor neuropathy": "ORPHA:397750", "COASY protein-associated neurodegeneration": "ORPHA:397725", "CoPAN": "ORPHA:397725", "NBIA6": "ORPHA:397725", "Neurodegeneration with brain iron accumulation due to COASY mutation": "ORPHA:397725", "Autosomal dominant Charcot-Marie-Tooth disease type 2U": "ORPHA:397735", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation": "ORPHA:397735", "CMT2U": "ORPHA:397735", "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome": "ORPHA:397709", "Autosomal recessive spinocerebellar ataxia type 20": "ORPHA:397709", "Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome": "ORPHA:397709", "SCAR20": "ORPHA:397709", "Joubert syndrome with Jeune asphyxiating thoracic dystrophy": "ORPHA:397715", "JBTS with JATD": "ORPHA:397715", "Joubert syndrome with JATD": "ORPHA:397715", "Hereditary isolated aplastic anemia": "ORPHA:397692", "3q27.3 microdeletion syndrome": "ORPHA:397695", "Del(3)(q27.3)": "ORPHA:397695", "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome": "ORPHA:397623", "SAMS syndrome": "ORPHA:397623", "Familial hyperprolactinemia": "ORPHA:397685", "Familial isolated prolactin receptor deficiency": "ORPHA:397685", "Obesity due to CEP19 deficiency": "ORPHA:397615", "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome": "ORPHA:397618", "FHONDA syndrome": "ORPHA:397618", "Activated PI3K-delta syndrome": "ORPHA:397596", "APDS": "ORPHA:397596", "Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation": "ORPHA:397596", "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency": "ORPHA:397593", "Macrocephaly-developmental delay syndrome": "ORPHA:397612", "PrP systemic amyloidosis": "ORPHA:397606", "Chronic diarrhea with HSAN": "ORPHA:397606", "Chronic diarrhea with hereditary sensory and autonomic neuropathy": "ORPHA:397606", "Prion protein systemic amyloidosis": "ORPHA:397606", "Silver-Russell syndrome due to a point mutation": "ORPHA:397590", "Deep dermatophytosis": "ORPHA:397587", "Disseminated granulomatous dermatophytosis": "ORPHA:397587", "Multiple acyl-CoA dehydrogenase deficiency, mild type": "ORPHA:394532", "Glutaric aciduria type 2, mild type": "ORPHA:394532", "MAD deficiency, mild type": "ORPHA:394532", "MADD, mild type": "ORPHA:394532", "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type": "ORPHA:394529", "Glutaric aciduria type 2, severe neonatal type": "ORPHA:394529", "MAD deficiency, severe neonatal type": "ORPHA:394529", "MADD, severe neonatal type": "ORPHA:394529", "Rare female infertility due to a congenital hypogonadotropic hypogonadism": "ORPHA:399839", "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder": "ORPHA:399831", "Rare female infertility due to gonadotropic axis disorder": "ORPHA:399831", "Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder": "ORPHA:399831", "Rare disorder with obstructive azoospermia": "ORPHA:399824", "Rare disorder due to impaired sperm transport": "ORPHA:399824", "Male infertility due to sperm motility disorder": "ORPHA:399813", "Male infertility due to asthenozoospermia": "ORPHA:399813", "Rare female infertility due to an anomaly of ovarian function": "ORPHA:399853", "Rare female infertility due to an adrenal disorder": "ORPHA:399849", "Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism": "ORPHA:399846", "Male infertility due to sperm disorder": "ORPHA:399771", "Male infertility due to gonadal dysgenesis or sperm disorder": "ORPHA:399764", "Male infertility due to testicular dysgenesis or sperm disorder": "ORPHA:399764", "Rare male infertility due to testicular endocrine disorder": "ORPHA:399685", "Rare male infertility due to adrenal disorder": "ORPHA:399584", "Male infertility with teratozoospermia due to single gene mutation": "ORPHA:399808", "Male infertility with azoospermia or oligozoospermia due to single gene mutation": "ORPHA:399805", "Male infertility with spermatogenesis disorder due to single gene mutation": "ORPHA:399786", "Male infertility with spermatogenesis disorder": "ORPHA:399775", "Epiphysiolysis of the hip": "ORPHA:399329", "Epiphysiolysis of the upper femur": "ORPHA:399329", "Femoral head epiphysiolysis": "ORPHA:399329", "SCFE": "ORPHA:399329", "SUFE": "ORPHA:399329", "Slipped capital femoral epiphysis": "ORPHA:399329", "Slipped upper femoral epiphysis": "ORPHA:399329", "Osteochondrosis of genetic origin": "ORPHA:399391", "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder": "ORPHA:399572", "Rare male infertility due to gonadotropic axis disorder": "ORPHA:399572", "Rare male infertility due to hypothalamic-pituitary-testicular axis disorder": "ORPHA:399572", "Osteonecrosis of genetic origin": "ORPHA:399380", "Bone necrosis of genetic origin": "ORPHA:399380", "Avascular necrosis of genetic origin": "ORPHA:399388", "Secondary non-traumatic avascular necrosis": "ORPHA:399180", "Secondary non-traumatic AVN": "ORPHA:399180", "Secondary non-traumatic osteonecrosis": "ORPHA:399180", "Rare hereditary disease with avascular necrosis": "ORPHA:399185", "Secondary avascular necrosis": "ORPHA:399169", "Secondary AVN": "ORPHA:399169", "Traumatic avascular necrosis": "ORPHA:399175", "Traumatic AVN": "ORPHA:399175", "Idiopathic avascular necrosis": "ORPHA:399307", "Idiopathic AVN": "ORPHA:399307", "Osteochondrosis": "ORPHA:399319", "Osteonecrosis of the jaw": "ORPHA:399293", "Primary avascular necrosis": "ORPHA:399302", "Primary AVN": "ORPHA:399302", "Alpha-B crystallin-related late-onset myopathy": "ORPHA:399058", "Alpha-B crystallin-related late-onset distal myopathy": "ORPHA:399058", "Late-onset distal crystallinopathy": "ORPHA:399058", "Malignant teratoma of ovary": "ORPHA:398987", "Immature teratoma of ovary": "ORPHA:398987", "Ovarian immature teratoma": "ORPHA:398987", "Ovarian malignant teratoma": "ORPHA:398987", "Finnish upper limb-onset distal myopathy": "ORPHA:399086", "Distal myopathy type 3": "ORPHA:399086", "MPD3": "ORPHA:399086", "KLHL9-related early-onset distal myopathy": "ORPHA:399081", "Distal nebulin myopathy": "ORPHA:399103", "Nebulin-related early-onset distal myopathy": "ORPHA:399103", "Distal anoctaminopathy": "ORPHA:399096", "MMD3": "ORPHA:399096", "Miyoshi muscular dystrophy type 3": "ORPHA:399096", "Avascular necrosis": "ORPHA:399164", "AVN": "ORPHA:399164", "Osteonecrosis": "ORPHA:399158", "Bone necrosis": "ORPHA:399158", "Malignant epithelial tumor of ovary": "ORPHA:398934", "Epithelial cancer of ovary": "ORPHA:398934", "Ovarian epithelial cancer": "ORPHA:398934", "Ovarian malignant epithelial tumor": "ORPHA:398934", "Mucinous adenocarcinoma of ovary": "ORPHA:398961", "Ovarian mucinous adenocarcinoma": "ORPHA:398961", "Malignant non-epithelial tumor of ovary": "ORPHA:398940", "Non-epithelial cancer of ovary": "ORPHA:398940", "Ovarian malignant non-epithelial tumor": "ORPHA:398940", "Ovarian non-epithelial cancer": "ORPHA:398940", "OBSOLETE: Primary peritoneal serous/papillary carcinoma": "ORPHA:398980", "OBSOLETE: PPSPC": "ORPHA:398980", "Clear cell adenocarcinoma of the ovary": "ORPHA:398971", "Ovarian clear cell adenocarcinoma": "ORPHA:398971", "Neonatal lupus erythematosus": "ORPHA:398124", "Neonatal scleroderma": "ORPHA:398127", "Persistent idiopathic facial pain": "ORPHA:398147", "AFP": "ORPHA:398147", "Atypical facial pain": "ORPHA:398147", "PIFP": "ORPHA:398147", "Oculoauriculofrontonasal syndrome": "ORPHA:398156", "OAFNS": "ORPHA:398156", "Focal facial dermal dysplasia": "ORPHA:398166", "FFDD": "ORPHA:398166", "Focal facial dermal dysplasia type II": "ORPHA:398173", "FFDD type II": "ORPHA:398173", "FFDD2": "ORPHA:398173", "Focal facial dermal dysplasia 2, Brauer-Setleis type": "ORPHA:398173", "Focal facial dermal dysplasia type IV": "ORPHA:398189", "FFDD type IV": "ORPHA:398189", "FFDD4": "ORPHA:398189", "Focal facial dermal dysplasia 4": "ORPHA:398189", "Focal facial preauricular dysplasia": "ORPHA:398189", "Schaaf-Yang syndrome": "ORPHA:398069", "SYS": "ORPHA:398069", "Prader-Willi-like syndrome": "ORPHA:398073", "PWS-like": "ORPHA:398073", "SIM1-related Prader-Willi-like syndrome": "ORPHA:398079", "SIM1-related PWLS": "ORPHA:398079", "Hereditary cryohydrocytosis with normal stomatin": "ORPHA:398088", "Secondary neonatal autoimmune disease": "ORPHA:398091", "Transplacentally acquired neonatal autoimmune disease": "ORPHA:398091", "Neonatal antiphospholipid syndrome": "ORPHA:398097", "Neonatal Hughes syndrome": "ORPHA:398097", "Neonatal antiphospholipid antibody syndrome": "ORPHA:398097", "Neonatal autoimmune hemolytic anemia": "ORPHA:398109", "Neonatal AHA": "ORPHA:398109", "Neonatal AIHA": "ORPHA:398109", "Neonatal dermatomyositis": "ORPHA:398117", "Neonatal DM": "ORPHA:398117", "Genetic precocious puberty in female": "ORPHA:435564", "Rare precocious puberty in female": "ORPHA:435561", "Genetic precocious puberty": "ORPHA:435554", "Genetic larynx anomaly": "ORPHA:435609", "Genetic nose and cavum anomaly": "ORPHA:435606", "Genetic otorhinolaryngological malformation": "ORPHA:435603", "Keppen-Lubinsky syndrome": "ORPHA:435628", "Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome": "ORPHA:435628", "OBSOLETE: Adactyly of foot": "ORPHA:435623", "OBSOLETE: Congenital absence of toes": "ORPHA:435623", "Genetic tracheal anomaly": "ORPHA:435612", "Congenital urachal anomaly": "ORPHA:435743", "LIPE-related familial partial lipodystrophy": "ORPHA:435660", "FPLD6": "ORPHA:435660", "LIPE-related FPLD": "ORPHA:435660", "CIDEC-related familial partial lipodystrophy": "ORPHA:435651", "CIDEC-related FPLD": "ORPHA:435651", "FPLD5": "ORPHA:435651", "3p25.3 microdeletion syndrome": "ORPHA:435638", "Del(3)p(25.3)": "ORPHA:435638", "Intellectual disability-epilepsy-stereotypic hand movement syndrome": "ORPHA:435638", "Monosomy 3p25.3": "ORPHA:435638", "Short stature-advanced bone age-early-onset osteoarthritis syndrome": "ORPHA:435804", "OBSOLETE: ACAN-related skeletal dysplasia": "ORPHA:435808", "Lethal neonatal spasticity-epileptic encephalopathy syndrome": "ORPHA:435845", "Lethal neonatal rigidity-multifocal seizure syndrome": "ORPHA:435845", "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome": "ORPHA:435930", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation": "ORPHA:435819", "CMT2 due to TFG mutation": "ORPHA:435819", "Progeroid features-hepatocellular carcinoma predisposition syndrome": "ORPHA:435953", "Ruijs-Aalfs syndrome": "ORPHA:435953", "Chronic atrial and intestinal dysrhythmia syndrome": "ORPHA:435988", "CAID syndrome": "ORPHA:435988", "Chronic atrial dysrhythmia-intestinal motility disorder": "ORPHA:435988", "COG2-CDG": "ORPHA:435934", "COG2-related congenital disorder of glycosylation": "ORPHA:435934", "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome": "ORPHA:435938", "HIDEA syndrome": "ORPHA:436141", "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome": "ORPHA:436141", "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome": "ORPHA:436144", "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D": "ORPHA:435998", "RI-CMT type D": "ORPHA:435998", "Contractures-developmental delay-Pierre Robin syndrome": "ORPHA:436003", "5q23 microdeletion syndrome": "ORPHA:436003", "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency": "ORPHA:436159", "ALPS due to CTLA4 haploinsuffiency": "ORPHA:436159", "CHAI": "ORPHA:436159", "CTLA-4 haploinsufficiency with autoimmune infiltration disease": "ORPHA:436159", "OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome": "ORPHA:436151", "OBSOLETE: Intellectual disability-loss of expressive language-facial dysmorphism syndrome": "ORPHA:436151", "Thrombomodulin-related bleeding disorder": "ORPHA:436169", "THBD-related bleeding disorder": "ORPHA:436169", "THBD-related coagulopathy": "ORPHA:436169", "Thrombomodulin-related coagulopathy": "ORPHA:436169", "Periodic fever-infantile enterocolitis-autoinflammatory syndrome": "ORPHA:436166", "NLRC4-related MAS": "ORPHA:436166", "NLRC4-related autoinflammatory syndrome with MAS": "ORPHA:436166", "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome": "ORPHA:436166", "NLRC4-related infantile enterocolitis-autoinflammatory syndrome": "ORPHA:436166", "NLRC4-related macrophage activation syndrome": "ORPHA:436166", "Microcephalic primordial dwarfism-insulin resistance syndrome": "ORPHA:436182", "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome": "ORPHA:436174", "CAGSSS": "ORPHA:436174", "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome": "ORPHA:436245", "Retinal dystrophy-juvenile cataract-short stature syndrome": "ORPHA:436245", "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease": "ORPHA:436242", "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy": "ORPHA:436271", "Combined immunodeficiency-enteropathy spectrum": "ORPHA:436252", "CID-MIA/early-onset IBD": "ORPHA:436252", "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa": "ORPHA:436274", "PXE-like syndrome with retinitis pigmentosa": "ORPHA:436274", "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity": "ORPHA:437552", "Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity": "ORPHA:437552", "CD16 deficiency": "ORPHA:437552", "OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy": "ORPHA:437572", "OBSOLETE: MYH7-related late-onset SPMD": "ORPHA:437572", "OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome": "ORPHA:437572", "Fatty acyl-CoA reductase 1 deficiency": "ORPHA:438178", "FAR1 deficiency": "ORPHA:438178", "PFCRD": "ORPHA:438178", "Peroxisomal fatty acyl-CoA reductase 1 disorder": "ORPHA:438178", "STAT3-related early-onset multisystem autoimmune disease": "ORPHA:438159", "PCNA-related progressive neurodegenerative photosensitivity syndrome": "ORPHA:438134", "Steel syndrome": "ORPHA:438117", "Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome": "ORPHA:438117", "RARS-related autosomal recessive hypomyelinating leukodystrophy": "ORPHA:438114", "Ketoacidosis due to monocarboxylate transporter-1 deficiency": "ORPHA:438075", "Disorder of keton body transport": "ORPHA:438072", "Human infection by orthopoxvirus": "ORPHA:438279", "GCGR-related hyperglucagonemia": "ORPHA:438274", "Mahvash disease": "ORPHA:438274", "Progressive encephalomyelitis with rigidity and myoclonus": "ORPHA:438266", "PERM": "ORPHA:438266", "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation": "ORPHA:438216", "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome": "ORPHA:438213", "Severe autosomal recessive macrothrombocytopenia": "ORPHA:438207", "ALECT2 amyloidosis": "ORPHA:439224", "Leukocyte chemotactic factor-2 amyloidosis": "ORPHA:439224", "AApoAIV amyloidosis": "ORPHA:439232", "Apolipoprotein A-IV amyloidosis": "ORPHA:439232", "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome": "ORPHA:439212", "EMARDD": "ORPHA:439212", "KCNQ2-related epileptic encephalopathy": "ORPHA:439218", "KCNQ2-NEE": "ORPHA:439218", "KCNQ2-related neonatal epileptic encephalopathy": "ORPHA:439218", "Zinc-responsive necrolytic acral erythema": "ORPHA:439196", "NAE": "ORPHA:439196", "Necrolytic acral erythema": "ORPHA:439196", "Non-recovering obstetric brachial plexus lesion": "ORPHA:439202", "Chronic obstetric brachial plexus injury": "ORPHA:439202", "Chronic obstetric brachial plexus palsy": "ORPHA:439202", "Non-recovering OBPI": "ORPHA:439202", "Non-recovering OBPL": "ORPHA:439202", "Placental insufficiency": "ORPHA:439167", "Uteroplacental vascular insufficiency": "ORPHA:439167", "Pediatric arterial ischemic stroke": "ORPHA:439175", "Childhood AIS": "ORPHA:439175", "Childhood arterial ischemic stroke": "ORPHA:439175", "Pediatric AIS": "ORPHA:439175", "Systemic polyarteritis nodosa": "ORPHA:439762", "Systemic PAN": "ORPHA:439762", "Systemic periarteritis nodosa": "ORPHA:439762", "PDE4D haploinsufficiency syndrome": "ORPHA:439822", "Secondary polyarteritis nodosa": "ORPHA:439746", "Secondary PAN": "ORPHA:439746", "Secondary periarteritis nodosa": "ORPHA:439746", "Single-organ polyarteritis nodosa": "ORPHA:439755", "Single-organ PAN": "ORPHA:439755", "Single-organ periarteritis nodosa": "ORPHA:439755", "Cutaneous polyarteritis nodosa": "ORPHA:439729", "Cutaneous PAN": "ORPHA:439729", "Cutaneous periarteritis nodosa": "ORPHA:439729", "Primary polyarteritis nodosa": "ORPHA:439737", "Primary PAN": "ORPHA:439737", "Primary periarteritis nodosa": "ORPHA:439737", "ABeta2M amyloidosis": "ORPHA:439246", "Beta2-microglobulinic amyloidosis": "ORPHA:439246", "ITM2B amyloidosis": "ORPHA:439254", "Familial cerebral amyloid angiopathy": "ORPHA:439254", "ITM2B-related amyloidosis": "ORPHA:439254", "ITM2B-related cerebral amyloid angiopathy": "ORPHA:439254", "Congenital oculomotor nerve palsy": "ORPHA:440221", "Congenital CNIII lesion": "ORPHA:440221", "Congenital third cranial nerve palsy": "ORPHA:440221", "Congenital abducens nerve palsy": "ORPHA:440233", "Benign congenital sixth cranial nerve palsy": "ORPHA:440233", "Congenital CNVI palsy": "ORPHA:440233", "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease": "ORPHA:439854", "Fatal congenital hypertrophic cardiomyopathy due to GSD": "ORPHA:439854", "Fatal congenital hypertrophic cardiomyopathy due to glycogenosis": "ORPHA:439854", "Autosomal recessive severe congenital neutropenia": "ORPHA:439849", "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome": "ORPHA:439897", "Plastic bronchitis": "ORPHA:439881", "Croupous bronchitis": "ORPHA:439881", "Fibrinous bronchitis": "ORPHA:439881", "Pseudo-membranous bronchitis": "ORPHA:439881", "Interstitial lung disease due to ABCA3 deficiency": "ORPHA:440402", "Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency": "ORPHA:440402", "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome": "ORPHA:440354", "Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome": "ORPHA:440354", "Interstitial lung disease due to SP-C deficiency": "ORPHA:440392", "Interstitial lung disease due to surfactant protein C deficiency": "ORPHA:440392", "Necrotizing soft tissue infection": "ORPHA:440368", "NSTI": "ORPHA:440368", "Isolated sedoheptulokinase deficiency": "ORPHA:440713", "Isolated SHPK deficiency": "ORPHA:440713", "Extensive peripapillary myelinated nerve fibers": "ORPHA:440724", "Combined hamartoma of the retina and retinal pigment epithelium": "ORPHA:440727", "CHR-RPE": "ORPHA:440727", "Combined hamartoma of the retina and RPE": "ORPHA:440727", "L-ferritin deficiency": "ORPHA:440731", "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency": "ORPHA:440427", "Hereditary pulmonary alveolar proteinosis with hepatic involvement": "ORPHA:440427", "Interstitial lung and liver disease": "ORPHA:440427", "PAP, Reunion island type": "ORPHA:440427", "Pulmonary alveolar proteinosis, Reunion island type": "ORPHA:440427", "Familial colorectal cancer Type X": "ORPHA:440437", "FCCTX": "ORPHA:440437", "Disorders of pentose/polyol metabolism": "ORPHA:440701", "Ribose-5-P isomerase deficiency": "ORPHA:440706", "Syndromic hereditary optic neuropathy": "ORPHA:441434", "Early-onset posterior subcapsular cataract": "ORPHA:441447", "Early-onset lamellar cataract": "ORPHA:441452", "Isolated agenesis of gallbladder": "ORPHA:440987", "OBSOLETE: Autosomal recessive optic atrophy, OPA9 type": "ORPHA:441344", "Sporadic porphyria cutanea tarda": "ORPHA:443057", "Porphyria cutanea tarda type I": "ORPHA:443057", "Familial porphyria cutanea tarda": "ORPHA:443062", "Porphyria cutanea tarda type II": "ORPHA:443062", "Central serous chorioretinopathy": "ORPHA:443079", "CSCR": "ORPHA:443079", "Baroreflex failure": "ORPHA:443084", "Hemicrania continua": "ORPHA:443070", "Charcot-Marie-Tooth disease type 2S": "ORPHA:443073", "CMT2S": "ORPHA:443073", "Non-specific early-onset epileptic encephalopathy": "ORPHA:442835", "Non-specific EOEE": "ORPHA:442835", "Undetermined EOEE": "ORPHA:442835", "Undetermined early-onset epileptic encephalopathy": "ORPHA:442835", "AH amyloidosis": "ORPHA:442582", "Heavy chain amyloidosis": "ORPHA:442582", "Disorder of plasmalogens biosynthesis": "ORPHA:3276", "X-linked erythropoietic protoporphyria": "ORPHA:443197", "X-linked dominant erythropoietic protoporphyria": "ORPHA:443197", "X-linked dominant protoporphyria": "ORPHA:443197", "XLDPP": "ORPHA:443197", "XLPP": "ORPHA:443197", "Pyruvate carboxylase deficiency": "ORPHA:3008", "Ataxia with lactic acidosis type 2": "ORPHA:3008", "Ataxia with lactic acidosis type II": "ORPHA:3008", "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency": "ORPHA:3008", "Leigh syndrome due to PC deficiency": "ORPHA:3008", "Leigh syndrome due to pyruvate carboxylase deficiency": "ORPHA:3008", "Classic stiff person syndrome": "ORPHA:443192", "Classic SMS": "ORPHA:443192", "Classic SPS": "ORPHA:443192", "Classic stiff man syndrome": "ORPHA:443192", "Centronuclear myopathy": "ORPHA:595", "CNM": "ORPHA:595", "Spontaneous intracranial hypotension": "ORPHA:443180", "Spontaneous cerebrospinal fluid leak": "ORPHA:443180", "NON RARE IN EUROPE: Hyperlipoproteinemia type 4": "ORPHA:413", "NON RARE IN EUROPE: Familial hypertriglyceridemia": "ORPHA:413", "NON RARE IN EUROPE: HLP type 4": "ORPHA:413", "Postpartum psychosis": "ORPHA:443173", "Puerperal psychosis": "ORPHA:443173", "NON RARE IN EUROPE: Familial hypobetalipoproteinemia": "ORPHA:426", "HIV-associated cancer": "ORPHA:443291", "HIV-related cancer": "ORPHA:443291", "Mitochondrial neurogastrointestinal encephalomyopathy": "ORPHA:298", "MNGIE": "ORPHA:298", "Chronic hiccup": "ORPHA:396", "OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor": "ORPHA:443287", "Postural orthostatic tachycardia syndrome due to NET deficiency": "ORPHA:443236", "Familial orthostatic tachycardia due to norepinephrine transporter deficiency": "ORPHA:443236", "Orthostatic intolerance due to NET deficiency": "ORPHA:443236", "POTS due to NET deficiency": "ORPHA:443236", "MODY": "ORPHA:552", "Maturity-onset diabetes of the young": "ORPHA:552", "Non-malignant and non-cirrhotic portal vein thrombosis": "ORPHA:854", "Non-cirrhotic and non-tumoral portal vein thrombosis": "ORPHA:854", "Non-malignant non-cirrhotic PVT": "ORPHA:854", "Paratyphoid fever": "ORPHA:443227", "Hyperostosis cranialis interna": "ORPHA:443098", "Hyperinsulinemic hypoglycaemia": "ORPHA:443095", "46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect": "ORPHA:443090", "46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect": "ORPHA:443090", "46,XY difference of sex development due to testicular 17,20-desmolase deficiency": "ORPHA:443087", "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency": "ORPHA:443087", "NUT midline carcinoma": "ORPHA:443167", "NMC": "ORPHA:443167", "Brugada syndrome": "ORPHA:130", "Idiopathic ventricular fibrillation, Brugada type": "ORPHA:130", "Severe combined immunodeficiency due to adenosine deaminase deficiency": "ORPHA:277", "ADA deficiency": "ORPHA:277", "SCID due to adenosine deaminase deficiency": "ORPHA:277", "NDE1-related microhydranencephaly": "ORPHA:443162", "MHAC": "ORPHA:443162", "Lymphoplasmacytic lymphoma without IgM production": "ORPHA:443159", "Lymphoplasmacytic lymphoma without Immunoglobulin M production": "ORPHA:443159", "Hypothalamic adipsic hypernatraemia syndrome": "ORPHA:443101", "OBSOLETE: HIV-related Non-Hodgkin lymphoma": "ORPHA:443325", "OBSOLETE: HIV-related Kaposi sarcoma": "ORPHA:443328", "Focal stiff limb syndrome": "ORPHA:443804", "Focal stiff-person syndrome": "ORPHA:443804", "Stiff leg syndrome": "ORPHA:443804", "PGM3-CDG": "ORPHA:443811", "CID due to PGM3 deficiency": "ORPHA:443811", "Combined immunodeficiency due to PGM3 deficiency": "ORPHA:443811", "PGM3-related congenital disorder of glycosylation": "ORPHA:443811", "Hereditary nonpolyposis colon cancer": "ORPHA:443909", "Familial nonpolyposis colon cancer": "ORPHA:443909", "Familial nonpolyposis colorectal cancer": "ORPHA:443909", "HNPCC": "ORPHA:443909", "Hereditary nonpolyposis colorectal cancer": "ORPHA:443909", "DNAJB2-related Charcot-Marie-Tooth disease type 2": "ORPHA:443950", "DNAJB2-related CMT2": "ORPHA:443950", "Ventriculomegaly-cystic kidney disease": "ORPHA:443988", "Congenital nephrosis-cerebral ventriculomegaly syndrome": "ORPHA:443988", "VMCKD": "ORPHA:443988", "OBSOLETE: HIV-related lung cancer": "ORPHA:443301", "OBSOLETE: HIV-related oropharyngeal cancer": "ORPHA:443304", "OBSOLETE: HIV-related anal cancer": "ORPHA:443307", "OBSOLETE: HIV-related hepatocellular carcinoma": "ORPHA:443310", "OBSOLETE: HIV-related penile cancer": "ORPHA:443313", "OBSOLETE: HIV-related Hodgkin lymphoma": "ORPHA:443316", "OBSOLETE: HIV-related vulvovaginal cancer": "ORPHA:443319", "OBSOLETE: HIV-related cervical cancer": "ORPHA:443322", "Autoimmune interstitial lung disease-arthritis syndrome": "ORPHA:444092", "COPA syndrome": "ORPHA:444092", "Autosomal dominant spastic paraplegia type 73": "ORPHA:444099", "SPG73": "ORPHA:444099", "Hereditary amyloidosis": "ORPHA:444116", "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome": "ORPHA:444138", "PLACK syndrome": "ORPHA:444138", "11q22.2q22.3 microdeletion syndrome": "ORPHA:444002", "Del(11)(q22.2q22.3)": "ORPHA:444002", "Monosomy 11q22.2q22.3": "ORPHA:444002", "Mandibulofacial dysostosis with alopecia": "ORPHA:443995", "MFDA": "ORPHA:443995", "46,XX ovarian dysgenesis-short stature syndrome": "ORPHA:444048", "Combined oxidative phosphorylation defect type 23": "ORPHA:444013", "COXPD23": "ORPHA:444013", "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome": "ORPHA:444069", "20q11.2 microdeletion syndrome": "ORPHA:444051", "Del(20)(q11.2)": "ORPHA:444051", "Monosomy 20q11": "ORPHA:444051", "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome": "ORPHA:444077", "CHOPS syndrome": "ORPHA:444077", "Cerebellar-facial-dental syndrome": "ORPHA:444072", "Cerebellofaciodental syndrome": "ORPHA:444072", "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency": "ORPHA:444463", "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II": "ORPHA:444463", "Evans syndrome associated with primary immunodeficiency": "ORPHA:444463", "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease": "ORPHA:444463", "TRIANGLE disease": "ORPHA:444463", "Familial chylomicronemia syndrome": "ORPHA:444490", "Idiopathic phalangeal acro-osteolysis": "ORPHA:444316", "Idiopathic phalangeal acroosteolysis": "ORPHA:444316", "Combined oxidative phosphorylation defect type 24": "ORPHA:444458", "COXPD24": "ORPHA:444458", "Limb-girdle muscular dystrophy due to POMK deficiency": "ORPHA:445110", "LGMD due to POMK deficiency": "ORPHA:445110", "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome": "ORPHA:445062", "Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome": "ORPHA:445062", "Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome": "ORPHA:445062", "3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome": "ORPHA:445038", "3-methylglutaconic aciduria type 7": "ORPHA:445038", "MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome": "ORPHA:445038", "MGA7": "ORPHA:445038", "Combined immunodeficiency due to LRBA deficiency": "ORPHA:445018", "CID due to LRBA deficiency": "ORPHA:445018", "Caudal regression-sirenomelia spectrum": "ORPHA:444941", "Pseudohypoaldosteronism": "ORPHA:444916", "NIK deficiency": "ORPHA:447731", "Primary immunodeficiency with multifaceted aberrant lymphoid immunity": "ORPHA:447731", "Combined immunodeficiency due to DOCK2 deficiency": "ORPHA:447737", "CID due to DOCK2 deficiency": "ORPHA:447737", "Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency": "ORPHA:447737", "Aggressive periodontitis": "ORPHA:447740", "AgP": "ORPHA:447740", "Juvenile periodontitis": "ORPHA:447740", "Susceptibility to localized juvenile periodontitis": "ORPHA:447740", "Secondary vasculitis": "ORPHA:445197", "Idiopathic dropped head syndrome": "ORPHA:447881", "Isolated neck extensor myopathy": "ORPHA:447881", "Polymerase proofreading-related adenomatous polyposis": "ORPHA:447877", "PPAP": "ORPHA:447877", "Tremor-ataxia-central hypomyelination syndrome": "ORPHA:447896", "TACH syndrome": "ORPHA:447896", "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome": "ORPHA:447893", "OBSOLETE: Hemochromatosis type 5": "ORPHA:447792", "Cerebral visual impairment": "ORPHA:447788", "Cortical visual impairment": "ORPHA:447788", "Biological anomaly without phenotypic characterization": "ORPHA:447874", "Lipoyl transferase 2 deficiency": "ORPHA:447795", "Secondary sclerosing cholangitis": "ORPHA:447774", "Sclerosing cholangitis": "ORPHA:447771", "Mitochondrial pyruvate carrier deficiency": "ORPHA:447784", "Keratocystic odontogenic tumor": "ORPHA:447777", "KTOC": "ORPHA:447777", "Odontogenic keratocystoma": "ORPHA:447777", "Autosomal dominant spastic paraplegia type 9B": "ORPHA:447757", "AD-SPG9B": "ORPHA:447757", "Autosomal dominant spastic paraplegia type 9A": "ORPHA:447753", "AD-SPG9A": "ORPHA:447753", "Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome": "ORPHA:447753", "Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome": "ORPHA:447753", "IgG4-related sclerosing cholangitis": "ORPHA:447764", "Autosomal recessive spastic paraplegia type 9B": "ORPHA:447760", "AR-SPG9B": "ORPHA:447760", "PRKAR1B-related neurodegenerative dementia with intermediate filaments": "ORPHA:412066", "Autosomal recessive cerebellar ataxia due to STUB1 deficiency": "ORPHA:412057", "SCAR16": "ORPHA:412057", "Spinocerebellar ataxia autosomal recessive type 16": "ORPHA:412057", "Epidermolysis bullosa simplex due to BP230 deficiency": "ORPHA:412181", "DST-related epidermolysis bullosa simplex": "ORPHA:412181", "EBS due to BP230 deficiency": "ORPHA:412181", "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome": "ORPHA:412069", "Xia-Gibbs syndrome": "ORPHA:412069", "Epidermolysis bullosa simplex due to exophilin 5 deficiency": "ORPHA:412189", "EBS due to exophilin 5 deficiency": "ORPHA:412189", "Dystonia-aphonia syndrome": "ORPHA:412217", "Primary failure of tooth eruption": "ORPHA:412206", "PFE": "ORPHA:412206", "Primary retention of teeth": "ORPHA:412206", "OBSOLETE: Ramsay Hunt syndrome type II": "ORPHA:412220", "Squamous cell carcinoma of the stomach": "ORPHA:418959", "Gastric squamous cell carcinoma": "ORPHA:418959", "Carcinoma of esophagus, salivary gland type": "ORPHA:418945", "Esophageal carcinoma, salivary gland type": "ORPHA:418945", "Undifferentiated carcinoma of esophagus": "ORPHA:418951", "Undifferentiated esophageal carcinoma": "ORPHA:418951", "Secondary pulmonary alveolar proteinosis": "ORPHA:420259", "Secondary PAP": "ORPHA:420259", "Malan overgrowth syndrome": "ORPHA:420179", "Sotos syndrome 2": "ORPHA:420179", "Genetic facial cleft": "ORPHA:414726", "Genetic craniofacial cleft": "ORPHA:414726", "OBSOLETE: Small pox": "ORPHA:415675", "OBSOLETE: Variola": "ORPHA:415675", "NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy": "ORPHA:415300", "NON RARE IN EUROPE: NAION": "ORPHA:415300", "Bilirubin encephalopathy": "ORPHA:415286", "Kernicterus": "ORPHA:415286", "NON RARE IN EUROPE: Adenocarcinoma of the lung": "ORPHA:415268", "NON RARE IN EUROPE: Sudden infant death syndrome": "ORPHA:415687", "NON RARE IN EUROPE: SIDS": "ORPHA:415687", "Rare genetic odontal or periodontal disorder": "ORPHA:420755", "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea": "ORPHA:420789", "Anti-IgLON5 disease": "ORPHA:420789", "Anti-IgLON5 syndrome": "ORPHA:420789", "Cono-spondylar dysplasia": "ORPHA:420794", "Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome": "ORPHA:420794", "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency": "ORPHA:420702", "Combined oxidative phosphorylation defect type 20": "ORPHA:420728", "COXPD20": "ORPHA:420728", "Combined oxidative phosphorylation defect type 21": "ORPHA:420733", "COXPD21": "ORPHA:420733", "RIDDLE syndrome": "ORPHA:420741", "RNF168 deficiency": "ORPHA:420741", "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome": "ORPHA:420741", "Adult-onset cervical dystonia, DYT23 type": "ORPHA:420492", "DYT23": "ORPHA:420492", "Dystonia 23": "ORPHA:420492", "Cranio-cervical dystonia with laryngeal and upper-limb involvement": "ORPHA:420485", "DYT24": "ORPHA:420485", "Dystonia 24": "ORPHA:420485", "Visual snow syndrome": "ORPHA:420556", "Semicircular canal dehiscence syndrome": "ORPHA:420402", "SCD syndrome": "ORPHA:420402", "Glycogen storage disease due to acid maltase deficiency, late-onset": "ORPHA:420429", "Alpha-1,4-glucosidase acid deficiency, late-onset": "ORPHA:420429", "GSD due to acid maltase deficiency, late-onset": "ORPHA:420429", "GSD type 2, late-onset": "ORPHA:420429", "GSD type II, late-onset": "ORPHA:420429", "Glycogen storage disease type 2, late-onset": "ORPHA:420429", "Glycogen storage disease type II, late-onset": "ORPHA:420429", "Glycogenosis type 2, late-onset": "ORPHA:420429", "Glycogenosis type II, late-onset": "ORPHA:420429", "Pompe disease, late-onset": "ORPHA:420429", "Transient myeloproliferative syndrome": "ORPHA:420611", "TMD": "ORPHA:609", "Transient abnormal myelopoiesis": "ORPHA:420611", "Transient myeloproliferative disease": "ORPHA:420611", "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome": "ORPHA:420584", "Culler-Jones syndrome": "ORPHA:420584", "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency": "ORPHA:420699", "Woolly hair-palmoplantar keratoderma syndrome": "ORPHA:420686", "KWWH type IV": "ORPHA:420686", "Keratoderma with woolly hair type IV": "ORPHA:420686", "Woolly hair-palmoplantar hyperkeratosis syndrome": "ORPHA:420686", "Temple-Baraitser syndrome": "ORPHA:420561", "Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome": "ORPHA:420561", "TMBTS": "ORPHA:420561", "Severe combined immunodeficiency due to CTPS1 deficiency": "ORPHA:420573", "SCID due to CTPS1 deficiency": "ORPHA:420573", "Bleeding disorder due to CalDAG-GEFI deficiency": "ORPHA:420566", "Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency": "ORPHA:420566", "Mucolipidosis type III alpha/beta": "ORPHA:423461", "ML 3 alpha/beta": "ORPHA:423461", "ML III alpha/beta": "ORPHA:423461", "Mucolipidosis type 3 alpha/beta": "ORPHA:423461", "Mucolipidosis type III gamma": "ORPHA:423470", "ML 3 gamma": "ORPHA:423470", "ML III gamma": "ORPHA:423470", "Mucolipidosis type 3 gamma": "ORPHA:423470", "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome": "ORPHA:423454", "Ectodermal dysplasia-short stature syndrome": "ORPHA:423454", "Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome": "ORPHA:423454", "Severe congenital neutropenia due to JAGN1 deficiency": "ORPHA:423384", "SCN due to JAGN1 deficiency": "ORPHA:423384", "Severe congenital neutropenia due to jagunal homolog 1 deficiency": "ORPHA:423384", "Spinocerebellar ataxia type 38": "ORPHA:423296", "SCA38": "ORPHA:423296", "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome": "ORPHA:423306", "Cutaneous larva migrans": "ORPHA:423717", "Rare carcinoma of stomach": "ORPHA:423771", "Rare gastric carcinoma": "ORPHA:423771", "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect": "ORPHA:423693", "DORV with subaortic or doubly committed VSD": "ORPHA:423693", "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy": "ORPHA:423712", "DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy": "ORPHA:423712", "Rare autonomic nervous system disorder": "ORPHA:423662", "NON RARE IN EUROPE: Cortisol-producing adrenal tumor": "ORPHA:423668", "X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency": "ORPHA:423479", "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome": "ORPHA:423479", "ARX-related encephalopathy-brain malformation spectrum": "ORPHA:423655", "Hereditary clear cell renal cell carcinoma": "ORPHA:422526", "Hereditary clear cell renal cell adenocarcinoma": "ORPHA:422526", "OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency": "ORPHA:422519", "OBSOLETE: PHGDH deficiency": "ORPHA:422519", "Spinocerebellar ataxia type 40": "ORPHA:423275", "SCA40": "ORPHA:423275", "Solid pseudopapillary carcinoma of pancreas": "ORPHA:424065", "Pancreatic solid pseudopapillary carcinoma": "ORPHA:424065", "Solid pseudopapillary neoplasm of the pancreas": "ORPHA:424065", "Intraductal papillary mucinous carcinoma of pancreas": "ORPHA:424058", "IPMN": "ORPHA:424058", "Pancreatic intraductal papillary mucinous carcinoma": "ORPHA:424058", "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas": "ORPHA:424080", "OGCT of pancreas": "ORPHA:424080", "Osteoclastic giant cell tumor of pancreas": "ORPHA:424080", "Pancreatic osteoclastic giant cell tumor": "ORPHA:424080", "Pancreatic undifferentiated carcinoma with osteoclast-like giant cells": "ORPHA:424080", "Undifferentiated carcinoma of pancreas with osteoclast-like giant cells": "ORPHA:424080", "Serous cystadenocarcinoma of pancreas": "ORPHA:424073", "Pancreatic serous cystadenocarcinoma": "ORPHA:424073", "Congenital myopathy with myasthenic-like onset": "ORPHA:424107", "Colobomatous microphthalmia-rhizomelic dysplasia syndrome": "ORPHA:424099", "Microphthalmia-coloboma-rhizomelic skeletal dysplasia": "ORPHA:424099", "Qualitative or quantitative defects of Torsin-1A-interacting protein 1": "ORPHA:424925", "TOR1AIP1-related limb-girdle muscular dystrophy": "ORPHA:424261", "Autosomal recessive limb-girdle muscular dystrophy type 2Y": "ORPHA:424261", "Autosomal recessive muscular dystrophy due to LAP1B deficiency": "ORPHA:424261", "Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency": "ORPHA:424261", "LGMD type 2Y": "ORPHA:424261", "LGMD2Y": "ORPHA:424261", "Muscular dystrophy with progressive weakness, distal contractures and rigid spine": "ORPHA:424261", "TOR1AIP1-related LGMD": "ORPHA:424261", "Adenocarcinoma of the anal canal": "ORPHA:424016", "Carcinoma of the anal canal": "ORPHA:424013", "Progressive myoclonic epilepsy type 8": "ORPHA:424027", "EPM8": "ORPHA:424027", "PME type 8": "ORPHA:424027", "Progressive myoclonic epilepsy due to CERS1 deficiency": "ORPHA:424027", "Progressive myoclonus epilepsy type 8": "ORPHA:424027", "Squamous cell carcinoma of the anal canal": "ORPHA:424019", "Squamous cell carcinoma of pancreas": "ORPHA:424039", "Pancreatic squamous cell carcinoma": "ORPHA:424039", "Rare epithelial tumor of pancreas": "ORPHA:424033", "Rare pancreatic epithelial tumor": "ORPHA:424033", "Mucinous cystadenocarcinoma of the pancreas": "ORPHA:424053", "Pancreatic mucinous cystadenocarcinoma": "ORPHA:424053", "Acinar cell carcinoma of pancreas": "ORPHA:424046", "Pancreatic acinar cell carcinoma": "ORPHA:424046", "Squamous cell carcinoma of the small intestine": "ORPHA:423968", "Squamous cell carcinoma of the small bowel": "ORPHA:423968", "Neuroendocrine tumor of the small intestine": "ORPHA:423975", "NET of the small intestine": "ORPHA:423975", "Neuroendocrine neoplasm of the small intestine": "ORPHA:423975", "Neuroendocrine tumor of small bowel": "ORPHA:423975", "Epithelial tumor of the appendix": "ORPHA:423982", "Appendiceal epithelial tumor": "ORPHA:423982", "Rare epithelial tumor of colon": "ORPHA:423991", "Squamous cell carcinoma of the colon": "ORPHA:423994", "Rare epithelial tumor of rectum": "ORPHA:423998", "Rare rectal epithelial tumor": "ORPHA:423998", "Squamous cell carcinoma of the rectum": "ORPHA:424002", "Rectal squamous cell carcinoma": "ORPHA:424002", "Epithelial tumor of anal canal": "ORPHA:424010", "Hereditary gastric cancer": "ORPHA:423776", "Hereditary cancer of stomach": "ORPHA:423776", "OBSOLETE: Carcinoma of stomach, salivary gland type": "ORPHA:423781", "OBSOLETE: Gastric carcinoma, salivary gland type": "ORPHA:423781", "Undifferentiated carcinoma of stomach": "ORPHA:423786", "Undifferentiated gastric carcinoma": "ORPHA:423786", "Rare tumor of small intestine": "ORPHA:423793", "Rare tumor of small bowel": "ORPHA:423793", "Mesenchymal tumor of small intestine": "ORPHA:423798", "Mesenchymal tumor of small bowel": "ORPHA:423798", "Microcephaly-complex motor and sensory axonal neuropathy syndrome": "ORPHA:423894", "Rare carcinoma of small intestine": "ORPHA:423957", "Rare carcinoma of small bowel": "ORPHA:423957", "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome": "ORPHA:431140", "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome": "ORPHA:431140", "Rare epithelial tumor of small intestine": "ORPHA:425368", "Rare epithelial tumor of small bowel": "ORPHA:425368", "Inherited digestive cancer-predisposing syndrome": "ORPHA:425003", "STING-associated vasculopathy with onset in infancy": "ORPHA:425120", "SAVI": "ORPHA:425120", "Adenocarcinoma of the liver and intrahepatic biliary tract": "ORPHA:424943", "Adenocarcinoma of the liver and IBT": "ORPHA:424943", "Undifferentiated carcinoma of liver and intrahepatic biliary tract": "ORPHA:424970", "Undifferentiated carcinoma of liver and IBT": "ORPHA:424970", "Rare malignant epithelial tumor of liver and intrahepatic biliary tract": "ORPHA:424933", "Rare malignant epithelial tumor of liver and IBT": "ORPHA:424933", "Carcinoma of liver and intrahepatic biliary tract": "ORPHA:424936", "Carcinoma of liver and IBT": "ORPHA:424936", "Adenocarcinoma of the gallbladder and extrahepatic biliary tract": "ORPHA:424991", "Adenocarcinoma of the gallbladder and EBT": "ORPHA:424991", "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract": "ORPHA:424996", "Squamous cell carcinoma of gallblader and EBT": "ORPHA:424996", "Squamous cell carcinoma of liver and intrahepatic biliary tract": "ORPHA:424975", "Squamous cell carcinoma of liver and IBT": "ORPHA:424975", "Biliary cystadenocarcinoma": "ORPHA:424982", "Intrahepatic bile duct cystadenocarcinoma": "ORPHA:424982", "Progressive encephalopathy with leukodystrophy due to DECR deficiency": "ORPHA:431361", "2,4-dienoyl-CoA reductase deficiency": "ORPHA:431361", "DECR deficiency with hyperlysinemia": "ORPHA:431361", "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis": "ORPHA:431353", "Patent urachus": "ORPHA:431341", "Urachal sinus": "ORPHA:431344", "Urachal diverticulum": "ORPHA:431347", "Vesicourachal diverticulum": "ORPHA:431347", "X-linked scapuloperoneal muscular dystrophy": "ORPHA:431272", "X-linked SPMD": "ORPHA:431272", "X-linked scapuloperoneal syndrome": "ORPHA:431272", "Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder": "ORPHA:431320", "SPOAN and SPOAN-related disorder": "ORPHA:431320", "Autosomal recessive spastic paraplegia type 57": "ORPHA:431329", "SPG57": "ORPHA:431329", "Spastic paraplegia due to partial TFG deficiency": "ORPHA:431329", "Scapuloperoneal spinal muscular atrophy": "ORPHA:431255", "Neurogenic scapuloperoneal amyotrophy, New England type": "ORPHA:431255", "SPSMA": "ORPHA:431255", "Scapuloperoneal neuronopathy": "ORPHA:431255", "Late-onset scapuloperoneal muscular dystrophy with hyaline bodies": "ORPHA:431263", "Late-onset SPMD with hyaline bodies": "ORPHA:431263", "Late-onset scapuloperoneal syndrome, myopathic type": "ORPHA:431263", "Combined immunodeficiency due to OX40 deficiency": "ORPHA:431149", "Combined immunodeficiency with childhood-onset Kaposi sarcoma": "ORPHA:431149", "Combined immunodeficiency with impaired immunity to HHV-8": "ORPHA:431149", "Combined immunodeficiency with impaired immunity to human herpes virus 8": "ORPHA:431149", "Primary immunodeficiency with predisposition to severe viral infection": "ORPHA:431156", "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection": "ORPHA:431166", "Primary immunodeficiency with post-MMR vaccine viral infection": "ORPHA:431166", "Progressive myoclonic epilepsy type 7": "ORPHA:435438", "EPM7": "ORPHA:435438", "MEAK": "ORPHA:435438", "Myoclonus epilepsy and ataxia due to potassium channel mutation": "ORPHA:435438", "PME type 7": "ORPHA:435438", "Progressive myoclonic epilepsy due to KV3.1 deficiency": "ORPHA:435438", "Progressive myoclonus epilepsy type 7": "ORPHA:435438", "Autosomal dominant Charcot-Marie-Tooth disease type 2Y": "ORPHA:435387", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation": "ORPHA:435387", "CMT2 due to VCP mutation": "ORPHA:435387", "CMT2Y": "ORPHA:435387", "Anterior urethral valve": "ORPHA:435372", "Fetal lower urinary tract obstruction": "ORPHA:435365", "LUTO": "ORPHA:435365", "Familial ossifying fibroma": "ORPHA:435329", "Familial Gigantiform cementoma": "ORPHA:435329", "Multiple ossifying fibroma": "ORPHA:435329", "Syndrome with woolly hair": "ORPHA:434809", "Rare genetic autonomic nervous system disorder": "ORPHA:434786", "Orofaciodigital syndrome type 14": "ORPHA:434179", "Microcephaly-cerebral malformation-orofaciodigital syndrome": "ORPHA:434179", "OFD14": "ORPHA:434179", "Oral-facial-digital syndrome type 14": "ORPHA:434179", "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome": "ORPHA:504476", "CABV syndrome": "ORPHA:504476", "CANVAS": "ORPHA:504476", "Cerebellar ataxia with bilateral vestibulopathy syndrome": "ORPHA:504476", "Severe combined immunodeficiency due to LAT deficiency": "ORPHA:504523", "SCID due to LAT deficiency": "ORPHA:504523", "Combined immunodeficiency due to Moesin deficiency": "ORPHA:504530", "CID due to Moesin deficiency": "ORPHA:504530", "MSN-related combined immunodeficiency": "ORPHA:504530", "X-linked Moesin-associated immunodeficiency": "ORPHA:504530", "NON RARE IN EUROPE: Pigment-dispersion syndrome": "ORPHA:26823", "Very long chain acyl-CoA dehydrogenase deficiency": "ORPHA:26793", "VLCAD deficiency": "ORPHA:26793", "VLCADD": "ORPHA:26793", "Hereditary pheochromocytoma-paraganglioma": "ORPHA:29072", "Familial pheochromocytoma-paraganglioma": "ORPHA:29072", "Tyrosinemia type 2": "ORPHA:28378", "Keratosis palmoplantaris-corneal dystrophy syndrome": "ORPHA:28378", "Oculocutaneous tyrosinemia": "ORPHA:28378", "Richner-Hanhart syndrome": "ORPHA:28378", "Tyrosinemia due to TAT deficiency": "ORPHA:28378", "Tyrosinemia due to tyrosine aminotransferase deficiency": "ORPHA:28378", "Tyrosinemia type II": "ORPHA:28378", "OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus": "ORPHA:28455", "Reactive arthritis": "ORPHA:29207", "Fiessinger-Leroy disease": "ORPHA:29207", "Multiple myeloma": "ORPHA:29073", "Kahler disease": "ORPHA:29073", "Medullary plasmacytoma": "ORPHA:29073", "Myelomatosis": "ORPHA:29073", "Plasma cell myeloma": "ORPHA:29073", "Spontaneous periodic hypothermia": "ORPHA:29822", "Episodic spontaneous hypothermia": "ORPHA:29822", "Shapiro syndrome": "ORPHA:29822", "Isolated biliary atresia": "ORPHA:30391", "Isolated atresia of bile ducts": "ORPHA:30391", "Non-syndromic biliary atresia": "ORPHA:30391", "Apparent mineralocorticoid excess": "ORPHA:320", "11-beta-hydroxysteroid dehydrogenase deficiency type 2": "ORPHA:320", "Ulick syndrome": "ORPHA:320", "Idiopathic acute eosinophilic pneumonia": "ORPHA:724", "IAEP": "ORPHA:724", "Dopamine beta-hydroxylase deficiency": "ORPHA:230", "DBH deficiency": "ORPHA:230", "Developmental and epileptic encephalopathy with spike-wave activation in sleep": "ORPHA:725", "CSWS": "ORPHA:725", "CSWSS syndrome": "ORPHA:725", "Continuous spikes and waves during sleep": "ORPHA:725", "Continuous spikes and waves during slow-wave sleep": "ORPHA:725", "DEE-SWAS": "ORPHA:725", "Epileptic encephalopathy with continuous spike-and-wave during slow sleep": "ORPHA:725", "Epileptic encephalopathy with spike-and wave activation in sleep": "ORPHA:725", "Congenital myasthenic syndrome": "ORPHA:590", "CMS": "ORPHA:590", "Familial hyperaldosteronism type II": "ORPHA:404", "FH-II": "ORPHA:404", "FH2": "ORPHA:404", "Familial hyperaldosteronism type 2": "ORPHA:404", "Pseudohypoaldosteronism type 1": "ORPHA:756", "PHA type 1": "ORPHA:756", "PHA1": "ORPHA:756", "Congenital cataract-anterior segment dysgenesis syndrome": "ORPHA:162", "Congenital cataract-ASD syndrome": "ORPHA:162", "Congenital cataract-ASGD syndrome": "ORPHA:162", "Congenital cataract-ASMD syndrome": "ORPHA:162", "Congenital cataract-anterior segment mesenchymal dysgenesis syndrome": "ORPHA:162", "Diffuse large B-cell lymphoma": "ORPHA:544", "DLBCL": "ORPHA:544", "Follicular lymphoma": "ORPHA:545", "Idiopathic aplastic anemia": "ORPHA:88", "Idiopathic bone marrow failure": "ORPHA:88", "Multiple system atrophy": "ORPHA:102", "MSA": "ORPHA:102", "Multisystem atrophy": "ORPHA:102", "Primary myelofibrosis": "ORPHA:824", "Agnogenic myeloid metaplasia": "ORPHA:824", "Idiopathic myelofibrosis": "ORPHA:824", "Myelofibrosis with myeloid metaplasia": "ORPHA:824", "Osteomyelofibrosis": "ORPHA:824", "Mendelian susceptibility to mycobacterial diseases": "ORPHA:748", "Idiopathic infection caused by BCG or atypical mycobacteria": "ORPHA:748", "MSMD": "ORPHA:748", "Mendelian susceptibility to atypical mycobacteria": "ORPHA:748", "Mendelian susceptibility to mycobacterial infections": "ORPHA:748", "Polycythemia vera": "ORPHA:729", "Acquired primary erythrocytosis": "ORPHA:729", "Osler-Vaquez disease": "ORPHA:729", "PV": "ORPHA:729", "Polycythemia rubra vera": "ORPHA:729", "Vaquez disease": "ORPHA:729", "X-linked myopathy with excessive autophagy": "ORPHA:25980", "XMEA": "ORPHA:25980", "Juvenile temporal arteritis": "ORPHA:26137", "JTA": "ORPHA:26137", "Non-giant cell granulomatous temporal arteritis with eosinophilia": "ORPHA:26137", "Hereditary diffuse gastric cancer": "ORPHA:26106", "FDGC": "ORPHA:26106", "Familial diffuse cancer of stomach": "ORPHA:26106", "Familial diffuse gastric cancer": "ORPHA:26106", "HDGC": "ORPHA:26106", "Hereditary diffuse cancer of stomach": "ORPHA:26106", "Hereditary diffuse gastric adenocarcinoma": "ORPHA:26106", "Ventilator-induced diaphragmatic dysfunction": "ORPHA:505395", "VIDD": "ORPHA:505395", "Self-limited childhood occipital epilepsy": "ORPHA:25968", "Benign occipital epilepsy": "ORPHA:25968", "Sebastian syndrome": "ORPHA:807", "Macrothrombocytopenia with leukocyte inclusions": "ORPHA:807", "Pseudomyxoma peritonei": "ORPHA:26790", "Adenomucinosis": "ORPHA:26790", "Gelatinous ascites": "ORPHA:26790", "PMP": "ORPHA:26790", "Short chain acyl-CoA dehydrogenase deficiency": "ORPHA:26792", "ACADS deficiency": "ORPHA:26792", "SCAD deficiency": "ORPHA:26792", "SCADD": "ORPHA:26792", "Multiple acyl-CoA dehydrogenase deficiency": "ORPHA:26791", "Glutaric acidemia type 2": "ORPHA:26791", "Glutaric aciduria type 2": "ORPHA:26791", "MAD deficiency": "ORPHA:26791", "MADD": "ORPHA:26791", "Acquired prothrombin deficiency": "ORPHA:26348", "Acquired hypoprothrombinemia": "ORPHA:26348", "Protein S acquired deficiency": "ORPHA:26349", "NON RARE IN EUROPE: Common mesentery": "ORPHA:620", "NON RARE IN EUROPE: Universal mesentery": "ORPHA:620", "Congenital cervical spinal stenosis": "ORPHA:831", "Congenital narrowing of cervical spinal canal": "ORPHA:831", "Congenital stenosis of the cervical spine": "ORPHA:831", "Penile agenesis": "ORPHA:49", "Aphallia": "ORPHA:49", "Penis agenesis": "ORPHA:49", "Diphallia": "ORPHA:227", "Accessory pancreas": "ORPHA:674", "Hepatic cystic hamartoma": "ORPHA:386", "Biliary hamartoma": "ORPHA:386", "MHL": "ORPHA:386", "Mesenchymal hamartoma of liver": "ORPHA:386", "VMC": "ORPHA:386", "Von Meyenburg complexes disease": "ORPHA:386", "Autosomal dominant limb-girdle muscular dystrophy type 1A": "ORPHA:266", "LGMD1A": "ORPHA:266", "Limb-girdle muscular dystrophy due to myotilin deficiency": "ORPHA:266", "Autosomal dominant limb-girdle muscular dystrophy type 1B": "ORPHA:264", "LGMD1B": "ORPHA:264", "Limb-girdle muscular dystrophy due to lamin A/C deficiency": "ORPHA:264", "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5": "ORPHA:353", "Autosomal recessive limb-girdle muscular dystrophy type 2C": "ORPHA:353", "Gamma-sarcoglycan-related LGMD R5": "ORPHA:353", "Gamma-sarcoglycanopathy": "ORPHA:353", "LGMD due to gamma-sarcoglycan deficiency": "ORPHA:353", "LGMD type 2C": "ORPHA:353", "LGMD2C": "ORPHA:353", "Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency": "ORPHA:353", "Limb-girdle muscular dystrophy type 2C": "ORPHA:353", "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6": "ORPHA:219", "Autosomal recessive limb-girdle muscular dystrophy type 2F": "ORPHA:219", "Delta-sarcoglycan-related LGMD R6": "ORPHA:219", "Delta-sarcoglycanopathy": "ORPHA:219", "LGMD due to delta-sarcoglycan deficiency": "ORPHA:219", "LGMD type 2F": "ORPHA:219", "LGMD2F": "ORPHA:219", "Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency": "ORPHA:219", "Limb-girdle muscular dystrophy type 2F": "ORPHA:219", "Multifocal motor neuropathy": "ORPHA:641", "MMN": "ORPHA:641", "MMNCB": "ORPHA:641", "Multifocal motor neuropathy with conduction block": "ORPHA:641", "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4": "ORPHA:119", "Autosomal recessive limb-girdle muscular dystrophy type 2E": "ORPHA:119", "Beta-sarcoglycan-related LGMD R4": "ORPHA:119", "Beta-sarcoglycanopathy": "ORPHA:119", "LGMD due to beta-sarcoglycan deficiency": "ORPHA:119", "LGMD type 2E": "ORPHA:119", "LGMD2E": "ORPHA:119", "Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency": "ORPHA:119", "Limb-girdle muscular dystrophy type 2E": "ORPHA:119", "Distal myopathy, Welander type": "ORPHA:603", "WDM": "ORPHA:603", "Combined immunodeficiency due to GINS1 deficiency": "ORPHA:505227", "CID due to GINS1 deficiency": "ORPHA:505227", "Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia": "ORPHA:505227", "Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia": "ORPHA:505227", "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome": "ORPHA:505237", "Muscle-eye-brain disease": "ORPHA:588", "MEB syndrome": "ORPHA:588", "Muscle-eye-brain syndrome": "ORPHA:588", "Santavuori congenital muscular dystrophy": "ORPHA:588", "Walker-Warburg syndrome": "ORPHA:899", "HARD syndrome": "ORPHA:899", "Hydrocephalus-agyria-retinal dysplasia syndrome": "ORPHA:899", "WWS": "ORPHA:899", "3-methylglutaconic aciduria type 9": "ORPHA:505216", "3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome": "ORPHA:505216", "MGA9": "ORPHA:505216", "Congenital muscular dystrophy, Fukuyama type": "ORPHA:272", "FCMD": "ORPHA:272", "FKTN-related congenital muscular dystrophy": "ORPHA:272", "Fukuyama congenital muscular dystrophy": "ORPHA:272", "3-methylglutaconic aciduria type 8": "ORPHA:505208", "MGA8": "ORPHA:505208", "Autosomal dominant limb-girdle muscular dystrophy type 1C": "ORPHA:265", "LGMD1C": "ORPHA:265", "Limb-girdle muscular dystrophy due to caveolin-3 deficiency": "ORPHA:265", "Dysferlin-related limb-girdle muscular dystrophy R2": "ORPHA:268", "Autosomal recessive limb-girdle muscular dystrophy type 2B": "ORPHA:268", "Dysferlin-related LGMD R2": "ORPHA:268", "LGMD due to dysferlin deficiency": "ORPHA:268", "LGMD type 2B": "ORPHA:268", "LGMD2B": "ORPHA:268", "Limb-girdle muscular dystrophy due to dysferlin deficiency": "ORPHA:268", "Limb-girdle muscular dystrophy type 2B": "ORPHA:268", "OBSOLETE: Corticobasal degeneration": "ORPHA:278", "Limb-girdle muscular dystrophy": "ORPHA:263", "LGMD": "ORPHA:263", "Vocal cord and pharyngeal distal myopathy": "ORPHA:600", "Distal myopathy with vocal cord weakness": "ORPHA:600", "MATR3-related distal myopathy": "ORPHA:600", "VCPDM": "ORPHA:600", "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders": "ORPHA:505248", "Mucopolysaccharidosis-like plus disease": "ORPHA:505248", "Tibial muscular dystrophy": "ORPHA:609", "Distal myopathy, Udd type": "ORPHA:609", "Distal titinopathy": "ORPHA:609", "Finnish tibial muscular dystrophy": "ORPHA:609", "Udd myopathy": "ORPHA:609", "GNE myopathy": "ORPHA:602", "DMRV": "ORPHA:602", "Distal myopathy with rimmed vacuoles": "ORPHA:602", "Distal myopathy, Nonaka type": "ORPHA:602", "HIBM2": "ORPHA:602", "Hereditary inclusion body myopathy type 2": "ORPHA:602", "IBM2": "ORPHA:602", "Inclusion body myopathy type 2": "ORPHA:602", "Nonaka myopathy": "ORPHA:602", "Quadriceps-sparing myopathy": "ORPHA:602", "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome": "ORPHA:505242", "Cerebrorenal syndrome, Perez type": "ORPHA:505242", "MEPAN syndrome": "ORPHA:508093", "Autosomal recessive childhood-onset dystonia, DYT29 type": "ORPHA:508093", "Childhood-onset generalized dystonia-optic atrophy syndrome": "ORPHA:508093", "DYT29": "ORPHA:508093", "Dystonia 29": "ORPHA:508093", "Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome": "ORPHA:508093", "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome": "ORPHA:508533", "EXTL3-related neuro-immuno-skeletal dysplasia syndrome": "ORPHA:508533", "Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency": "ORPHA:508533", "Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome": "ORPHA:508542", "MYSM1 deficiency": "ORPHA:508542", "Familial intestinal malrotation": "ORPHA:508410", "Intrauterine growth restriction-congenital multiple caf\u00e9-au-lait macules-increased sister chromatid exchange syndrome": "ORPHA:508512", "Intermediate epidermolysis bullosa simplex with cardiomyopathy": "ORPHA:508529", "Intermediate EBS with cardiomyopathy": "ORPHA:508529", "Hyperphenylalaninemia due to DNAJC12 deficiency": "ORPHA:508523", "Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia": "ORPHA:508523", "8q24.3 microdeletion syndrome": "ORPHA:508488", "Del(8)(q24.3)": "ORPHA:508488", "Deletion 8q24.3": "ORPHA:508488", "Monosomy 8q24.3": "ORPHA:508488", "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome": "ORPHA:508476", "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome": "ORPHA:508476", "Hyaluronidase 2 deficiency": "ORPHA:508476", "Oral-facial-digital syndrome with short stature and brachymesophalangy": "ORPHA:508501", "OFD18": "ORPHA:508501", "Oral-facial-digital syndrome type 18": "ORPHA:508501", "Orofaciodigital syndrome type 18": "ORPHA:508501", "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome": "ORPHA:508498", "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene": "ORPHA:508498", "CDKL5-deficiency disorder": "ORPHA:505652", "CDD": "ORPHA:505652", "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome": "ORPHA:506784", "SJS/TEN overlap syndrome": "ORPHA:506784", "Stevens-Johnson/TEN overlap syndrome": "ORPHA:506784", "Stevens-Johnson/toxic epidermal necrolysis overlap syndrome": "ORPHA:506784", "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency": "ORPHA:506334", "Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency": "ORPHA:506334", "SPLIS": "ORPHA:506334", "Sphingosine phosphate lyase insufficiency syndrome": "ORPHA:506334", "Stromme syndrome": "ORPHA:506307", "Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome": "ORPHA:506307", "Jejunal atresia-microcephaly-ocular anomalies syndrome": "ORPHA:506307", "Gabriele-de Vries syndrome": "ORPHA:506358", "YY1 haploinsufficiency syndrome": "ORPHA:506358", "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction": "ORPHA:506353", "Autosomal recessive complex SPG due to Kennedy pathway dysfunction": "ORPHA:506353", "Autosomal recessive spastic paraplegia type 81": "ORPHA:506353", "Rare disorder potentially indicated for bowel transplant": "ORPHA:506216", "Rare disorder potentially indicated for hematopoietic stem cell transplant": "ORPHA:506219", "Rare disorder potentially indicated for lung transplant": "ORPHA:506222", "Rare disorder potentially indicated for heart transplant": "ORPHA:506225", "Neuroendocrine neoplasm of esophagus": "ORPHA:506136", "Esophageal NEN": "ORPHA:506136", "Esophageal neuroendocrine neoplasm": "ORPHA:506136", "NEN of esophagus": "ORPHA:506136", "Rare disorder potentially indicated for transplant": "ORPHA:506207", "Rare disorder potentially indicated for liver transplant": "ORPHA:506210", "Rare disorder potentially indicated for kidney transplant": "ORPHA:506213", "Serotonin-producing neuroendocrine tumor of pancreas": "ORPHA:506090", "Serotonin-producing PNET": "ORPHA:506090", "Serotonin-producing pancreatic NET": "ORPHA:506090", "Serotonin-producing pancreatic neuroendocrine tumor": "ORPHA:506090", "Neuroendocrine carcinoma of pancreas": "ORPHA:506098", "Pancreatic NEC": "ORPHA:506098", "Pancreatic neuroendocrine carcinoma": "ORPHA:506098", "Poorly-differentiated NEN of pancreas": "ORPHA:506098", "Poorly-differentiated neuroendocrine neoplasm of pancreas": "ORPHA:506098", "Poorly-differentiated pancreatic NEN": "ORPHA:506098", "Poorly-differentiated pancreatic neuroendocrine neoplasm": "ORPHA:506098", "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas": "ORPHA:506112", "MiNEN of pancreas": "ORPHA:506112", "Pancreatic MiNEN": "ORPHA:506112", "Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm": "ORPHA:506112", "OBSOLETE: Neuroendocrine tumor of small intestine": "ORPHA:506124", "OBSOLETE: NET of small intestine": "ORPHA:506124", "Neuroendocrine neoplasm of pancreas": "ORPHA:506052", "PNEN": "ORPHA:506052", "Pancreatic NEN": "ORPHA:506052", "Pancreatic neuroendocrine neoplasm": "ORPHA:506052", "Functioning neuroendocrine tumor of pancreas": "ORPHA:506060", "Functioning PNET": "ORPHA:506060", "Functioning pancreatic NET": "ORPHA:506060", "Functioning pancreatic neuroendocrine tumor": "ORPHA:506060", "Functioning well-differentiated NEN of pancreas": "ORPHA:506060", "Functioning well-differentiated neuroendocrine neoplasm of pancreas": "ORPHA:506060", "Functioning well-differentiated pancreatic NEN": "ORPHA:506060", "Functioning well-differentiated pancreatic neuroendocrine neoplasm": "ORPHA:506060", "Non-functioning neuroendocrine tumor of pancreas": "ORPHA:506075", "Non-functioning PNET": "ORPHA:506075", "Non-functioning pancreatic NET": "ORPHA:506075", "Non-functioning pancreatic neuroendocrine tumor": "ORPHA:506075", "Non-functioning well-differentiated NEN of pancreas": "ORPHA:506075", "Non-functioning well-differentiated neuroendocrine neoplasm of pancreas": "ORPHA:506075", "Non-functioning well-differentiated pancreatic NEN": "ORPHA:506075", "Non-functioning well-differentiated pancreatic neuroendocrine neoplasm": "ORPHA:506075", "Charcot-Marie-Tooth disease type 2T": "ORPHA:495274", "AR-CMT2T": "ORPHA:495274", "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T": "ORPHA:495274", "CMT2T": "ORPHA:495274", "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy": "ORPHA:495844", "C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy": "ORPHA:495844", "Hypomyelinating leukodystrophy due to hikeshi deficiency": "ORPHA:495844", "9q33.3q34.11 microdeletion syndrome": "ORPHA:495818", "Del(9)(q33.3q34.11)": "ORPHA:495818", "Deletion 9q33.3q34.11": "ORPHA:495818", "Monosomy 9q33.3q34.11": "ORPHA:495818", "Congenital agenesis of the scrotum": "ORPHA:495879", "Congenital absence of the scrotum": "ORPHA:495879", "Congenital scrotal absence": "ORPHA:495879", "Congenital scrotal agenesis": "ORPHA:495879", "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome": "ORPHA:495875", "Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome": "ORPHA:495875", "Familial monosomy 7 syndrome": "ORPHA:495930", "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome": "ORPHA:496641", "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome": "ORPHA:496686", "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome": "ORPHA:496689", "Kyphoscoliosis-lateral tongue atrophy-HSP syndrome": "ORPHA:496689", "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome": "ORPHA:496693", "Gershoni-Baruch syndrome": "ORPHA:496693", "EVEN-plus syndrome": "ORPHA:496751", "Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome": "ORPHA:496751", "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome": "ORPHA:496756", "Ocular anomalies-axonal neuropathy-developmental delay syndrome": "ORPHA:496790", "Harel-Yoon syndrome": "ORPHA:496790", "MIRAGE syndrome": "ORPHA:494433", "Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome": "ORPHA:494433", "Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome": "ORPHA:494433", "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome": "ORPHA:494439", "Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome": "ORPHA:494439", "Extracranial carotid artery aneurysm": "ORPHA:494424", "ECAA": "ORPHA:494424", "ECCA": "ORPHA:494424", "Idiopathic pleuroparenchymal fibroelastosis": "ORPHA:494428", "IPPFE": "ORPHA:494428", "Idiopathic pleuropulmonary fibroelastosis": "ORPHA:494428", "Vulvar basal cell carcinoma": "ORPHA:494451", "Basal cell carcinoma of vulva": "ORPHA:494451", "Vulvar adenocarcinoma": "ORPHA:494454", "Adenocarcinoma of the vulva": "ORPHA:494454", "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome": "ORPHA:494444", "DIAPH1-related sensorineural deafness-thrombocytopenia syndrome": "ORPHA:494444", "Vulvar squamous cell carcinoma": "ORPHA:494448", "Squamous cell carcinoma of the vulva": "ORPHA:494448", "RERE-related neurodevelopmental syndrome": "ORPHA:494344", "Vulvar carcinoma": "ORPHA:494418", "Carcinoma of vulva": "ORPHA:494418", "Sacrococcygeal teratoma": "ORPHA:494421", "Early-onset familial noncirrhotic portal hypertension": "ORPHA:494348", "Squamous cell carcinoma of the hypopharynx": "ORPHA:494547", "Childhood-onset benign chorea with striatal involvement": "ORPHA:494541", "Infantile-onset generalized dyskinesia with orofacial involvement": "ORPHA:494526", "Infantile-onset orofacial-trunk-limbs dyskinesia": "ORPHA:494526", "Rare hyperkinetic movement disorder": "ORPHA:494457", "Squamous cell carcinoma of the larynx": "ORPHA:494550", "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder": "ORPHA:500180", "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome": "ORPHA:500188", "Amoebiasis due to free-living amoebae": "ORPHA:68", "Q fever": "ORPHA:781", "Coxiellosis": "ORPHA:781", "Infection due to Coxiella burnetii": "ORPHA:781", "Nine Mile fever": "ORPHA:781", "Quadrilateral fever": "ORPHA:781", "Query fever": "ORPHA:781", "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome": "ORPHA:500150", "ZTTK syndrome": "ORPHA:500150", "Zhu-Tokita-Takenouchi-Kim syndrome": "ORPHA:500150", "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom": "ORPHA:500159", "Witteveen-Kolk syndrome": "ORPHA:500163", "SIN3A-related intellectual disability syndrome": "ORPHA:500163", "WITKOS": "ORPHA:500163", "Inherited epidermodysplasia verruciformis": "ORPHA:302", "Lewandowsky-Lutz syndrome": "ORPHA:302", "Lutz-Lewandowsky epidermodysplasia verruciformis": "ORPHA:302", "Tick-borne encephalitis": "ORPHA:297", "TBE": "ORPHA:297", "SIN3-related intellectual disability syndrome due to a point mutation": "ORPHA:500166", "Chromomycosis": "ORPHA:182", "Chromoblastomycosis": "ORPHA:182", "Diphyllobothriasis": "ORPHA:128", "Bothriocephalosis": "ORPHA:128", "Demodicidosis": "ORPHA:283", "Demodicosis": "ORPHA:283", "Cyclosporiasis": "ORPHA:210", "Strongyloidiasis": "ORPHA:76", "Anguilluliasis": "ORPHA:76", "Anguillulosis": "ORPHA:76", "Angiostrongyliasis": "ORPHA:74", "Babesiosis": "ORPHA:108", "Ankylostomiasis": "ORPHA:78", "Ancylostomiasis": "ORPHA:78", "Hookworm infection": "ORPHA:78", "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome": "ORPHA:500135", "MARCH syndrome": "ORPHA:500135", "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome": "ORPHA:500144", "Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome": "ORPHA:500144", "PEBAS": "ORPHA:500144", "Hao-Fountain syndrome due to 16p13.2 microdeletion": "ORPHA:500055", "Chromosome 16p13.2 deletion syndrome": "ORPHA:500055", "Del(16)(p13.2)": "ORPHA:500055", "Monosomy 16p13.2": "ORPHA:500055", "Tall stature-intellectual disability-renal anomalies syndrome": "ORPHA:500095", "Thauvin-Robinet-Faivre syndrome": "ORPHA:500095", "Infantile-onset periodic fever-panniculitis-dermatosis syndrome": "ORPHA:500062", "ORAS": "ORPHA:500062", "OTULIN deficiency": "ORPHA:500062", "OTULIN-related autoinflammatory syndrome": "ORPHA:500062", "Otulipenia": "ORPHA:500062", "Pseudopelade of Brocq": "ORPHA:129", "Bj\u00f6rnstad syndrome": "ORPHA:123", "Deafness-pili torti-hypogonadism syndrome": "ORPHA:123", "Hearing loss-pili torti-hypogonadism syndrome": "ORPHA:123", "Wagner disease": "ORPHA:898", "Dominant hyaloideoretinal dystrophy of Wagner": "ORPHA:898", "VCAN-related vitreoretinopathy": "ORPHA:898", "Vitreoretinal degeneration, Wagner type": "ORPHA:898", "Wagner syndrome": "ORPHA:898", "Squamous cell carcinoma of the oropharynx": "ORPHA:500478", "Acute megakaryoblastic leukemia": "ORPHA:518", "AMKL": "ORPHA:518", "AML M7": "ORPHA:518", "Acute megakaryocytic leukemia": "ORPHA:518", "Acute myeloid leukemia M7": "ORPHA:518", "OBSOLETE: Squamous cell carcinoma of salivary glands": "ORPHA:500481", "Acute erythroid leukemia": "ORPHA:318", "AML M6": "ORPHA:318", "Acute myeloid leukemia M6": "ORPHA:318", "Erythroleukemia": "ORPHA:318", "Acute monoblastic/monocytic leukemia": "ORPHA:514", "AML M5": "ORPHA:514", "Acute monoblastic or monocytic leukemia": "ORPHA:514", "Acute myelomonocytic leukemia": "ORPHA:517", "AML M4": "ORPHA:517", "AMMoL": "ORPHA:517", "Graham Little-Piccardi-Lassueur syndrome": "ORPHA:505", "Graham Little syndrome": "ORPHA:505", "Piccardi-Lassueur-Little syndrome": "ORPHA:505", "Quinquaud folliculitis decalvans": "ORPHA:346", "Erosive pustular dermatosis of the scalp": "ORPHA:222", "Crandall syndrome": "ORPHA:202", "Alopecia-deafness-hypogonadism syndrome": "ORPHA:202", "Alopecia-hearing loss-hypogonadism syndrome": "ORPHA:202", "Alopecia-sensorineural deafness-hypogonadism syndrome": "ORPHA:202", "Alopecia-sensorineural hearing loss-hypogonadism syndrome": "ORPHA:202", "Woolly hair": "ORPHA:170", "Familial woolly hair syndrome": "ORPHA:170", "Familial wooly hair syndrome": "ORPHA:170", "Hereditary woolly hair syndrome": "ORPHA:170", "Hereditary wooly hair syndrome": "ORPHA:170", "Wooly hair": "ORPHA:170", "Osteosclerotic metaphyseal dysplasia": "ORPHA:500548", "Ringed hair disease": "ORPHA:169", "Pili annulati": "ORPHA:169", "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome": "ORPHA:500533", "PMSE syndrome": "ORPHA:500533", "Loose anagen syndrome": "ORPHA:168", "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract": "ORPHA:500545", "Dissecting cellulitis of the scalp": "ORPHA:345", "Furuncular myiasis": "ORPHA:591", "Furunculoid myiasis": "ORPHA:591", "Furunculous myiasis": "ORPHA:591", "Pneumocystosis": "ORPHA:723", "Isosporiasis": "ORPHA:472", "Cystoisosporiasis": "ORPHA:472", "Creeping myiasis": "ORPHA:504", "Migratory myiasis": "ORPHA:504", "Hymenolepiasis": "ORPHA:401", "OBSOLETE: Hypodermyiasis": "ORPHA:430", "Histoplasmosis": "ORPHA:390", "Darling disease": "ORPHA:390", "Cystic echinococcosis": "ORPHA:400", "Hydatid cyst": "ORPHA:400", "Hydatid disease": "ORPHA:400", "Hydatidosis": "ORPHA:400", "Squamous cell carcinoma of the nasal cavity and paranasal sinuses": "ORPHA:500464", "Squamous cell carcinoma of the nasal cavity and sinuses": "ORPHA:500464", "Acute promyelocytic leukemia": "ORPHA:520", "AML M3": "ORPHA:520", "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants": "ORPHA:520", "APML": "ORPHA:520", "Acute myeloblastic leukemia 3": "ORPHA:520", "Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants": "ORPHA:520", "Heterotaxia": "ORPHA:450", "Heterotaxy syndrome": "ORPHA:450", "Lateralization defect": "ORPHA:450", "Visceral heterotaxy": "ORPHA:450", "Roch-Leri mesosomatous lipomatosis": "ORPHA:529", "Neonatal diabetes mellitus": "ORPHA:224", "Congenital diabetes mellitus": "ORPHA:224", "Diabetes of infancy": "ORPHA:224", "Monogenic diabetes of infancy": "ORPHA:99885", "NDM": "ORPHA:224", "Sporotrichosis": "ORPHA:826", "Tungiasis": "ORPHA:879", "Cochleovestibular malformation": "ORPHA:502305", "Cochlear nerve deficiency": "ORPHA:502318", "Squamous cell carcinoma of the oral cavity": "ORPHA:502363", "Squamous cell carcinoma of the lip": "ORPHA:502366", "Squamous cell carcinoma of oral cavity and lip": "ORPHA:502369", "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome": "ORPHA:502423", "Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome": "ORPHA:502423", "Weiss-Kruszka Syndrome": "ORPHA:502430", "Metopic ridging-ptosis-facial dysmorphism syndrome": "ORPHA:502430", "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome": "ORPHA:502434", "4q25 proximal deletion syndrome": "ORPHA:502437", "Proximal del(4)(q25)": "ORPHA:502437", "Proximal monosomy 4q25": "ORPHA:502437", "Erythema multiforme major": "ORPHA:502499", "Erythema exsudativum multiforme majus": "ORPHA:502499", "Erythema multiforme majus": "ORPHA:502499", "Alkaline ceramidase 3 deficiency": "ORPHA:502444", "ACER3-related early childhood-onset progressive leukodystrophy": "ORPHA:502444", "Leukodystrophy due to alkaline ceramidase 3 deficiency": "ORPHA:502444", "Normosmic congenital hypogonadotropic hypogonadism": "ORPHA:432", "Normosmic idiopathic hypogonadotropic hypogonadism": "ORPHA:432", "nIHH": "ORPHA:432", "Aromatase deficiency": "ORPHA:91", "Congenital estrogen deficiency": "ORPHA:91", "Estrogen resistance syndrome": "ORPHA:785", "NON RARE IN EUROPE: Atypical mole": "ORPHA:625", "NON RARE IN EUROPE: Clark nevus": "ORPHA:625", "NON RARE IN EUROPE: Dysplastic nevus": "ORPHA:625", "Desmoid tumor": "ORPHA:873", "Aggressive fibromatosis": "ORPHA:873", "Desmoid type fibromatosis": "ORPHA:873", "OBSOLETE: Cushing syndrome": "ORPHA:553", "OBSOLETE: Hyperadrenocorticism": "ORPHA:553", "OBSOLETE: Hypercortisolism": "ORPHA:553", "Malignant atrophic papulosis": "ORPHA:679", "Cutaneo-muco-intestinal syndrome": "ORPHA:679", "MAP": "ORPHA:679", "Papulosis atrophicans maligna": "ORPHA:679", "Wells syndrome": "ORPHA:901", "Eosinophilic cellulitis": "ORPHA:901", "Bullous pemphigoid": "ORPHA:703", "Sebocystomatosis": "ORPHA:841", "Steatocystoma multiplex": "ORPHA:841", "Peeling skin syndrome": "ORPHA:817", "Deciduous skin": "ORPHA:817", "Familial continuous skin peeling syndrome": "ORPHA:817", "Idiopathic deciduous skin": "ORPHA:817", "Keratosis exfoliativa congenita": "ORPHA:817", "PSS": "ORPHA:817", "Peeling skin disease": "ORPHA:817", "NON RARE IN EUROPE: Stuccokeratosis": "ORPHA:830", "Familial multiple trichoepithelioma": "ORPHA:867", "Porokeratosis of Mibelli": "ORPHA:735", "Childhood-onset basal ganglia degeneration syndrome": "ORPHA:497906", "Lenk-Ploski syndrome": "ORPHA:497906", "Mutilating palmoplantar keratoderma with periorificial keratotic plaques": "ORPHA:659", "Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques": "ORPHA:659", "Olmsted syndrome": "ORPHA:659", "Palmoplantar and periorificial keratoderma": "ORPHA:659", "Porokeratosis plantaris palmaris et disseminata": "ORPHA:737", "Palmar, plantar and disseminated porokeratosis": "ORPHA:737", "Palmoplantar porokeratosis of Mantoux": "ORPHA:736", "C12ORF65-related combined oxidative phosphorylation defect": "ORPHA:497623", "C12ORF65-related COXPD": "ORPHA:497623", "Hereditary leiomyomatosis and renal cell cancer": "ORPHA:523", "Familial leiomyomatosis and renal cell cancer": "ORPHA:523", "Familial leiomyomatosis cutis et uteri": "ORPHA:523", "Familial leiomyomatosis with renal carcinoma": "ORPHA:523", "Familial multiple cutaneous leiomyomas": "ORPHA:523", "HLRCC": "ORPHA:523", "Hereditary leiomyomatosis": "ORPHA:523", "Hereditary leiomyomatosis with renal carcinoma": "ORPHA:523", "Hereditary multiple cutaneous leiomyomas": "ORPHA:523", "MCUL": "ORPHA:523", "Multiple cutaneous and uterine leiomyomas": "ORPHA:523", "Reed syndrome": "ORPHA:523", "Epidermolytic nevus": "ORPHA:497737", "Epidermal nevus with epidermolytic hyperkeratosis": "ORPHA:497737", "Epidermolytic epidermal nevus": "ORPHA:497737", "Epidermolytic verrucous epidermal nevus": "ORPHA:497737", "Erythroderma desquamativum": "ORPHA:314", "Leiner disease": "ORPHA:314", "MME-related autosomal dominant Charcot Marie Tooth disease type 2": "ORPHA:497757", "MME-related autosomal dominant CMT2": "ORPHA:497757", "MME-related autosomal dominant hereditary motor and sensory neuropathy type 2": "ORPHA:497757", "NAME syndrome": "ORPHA:623", "Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome": "ORPHA:623", "Spinocerebellar ataxia type 43": "ORPHA:497764", "SCA43": "ORPHA:497764", "Lipoid proteinosis": "ORPHA:530", "Hyalinosis cutis et mucosae": "ORPHA:530", "Urbach-Wiethe disease": "ORPHA:530", "Familial keratoacanthoma": "ORPHA:493", "Hereditary keratoacanthoma": "ORPHA:493", "Multiple keratoacanthoma": "ORPHA:493", "NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris": "ORPHA:462", "Diffuse intrinsic pontine glioma": "ORPHA:497188", "DIPG": "ORPHA:497188", "Keratosis pilaris atrophicans": "ORPHA:498", "Rare genetic hyperkinetic movement disorder": "ORPHA:496916", "Non-inflammatory vasculopathy": "ORPHA:496924", "Acquired ichthyosis": "ORPHA:454", "Omphalomesenteric cyst": "ORPHA:490", "Non-syndromic postaxial polydactyly": "ORPHA:498467", "Non-syndromic preaxial polydactyly": "ORPHA:498464", "OBSOLETE: Digestive duplication": "ORPHA:238", "Non-syndromic terminal transverse limb defect": "ORPHA:498461", "Congenital primary megaureter": "ORPHA:617", "Congenital primary megalo-ureter": "ORPHA:617", "Urachal cyst": "ORPHA:488", "Non-syndromic longitudinal limb defect": "ORPHA:498457", "Atresia of urethra": "ORPHA:105", "Urethral atresia": "ORPHA:105", "Dysostosis with brachydactyly with extraskeletal manifestations": "ORPHA:498454", "Duplication of urethra": "ORPHA:237", "Dysostosis with brachydactyly without extraskeletal manifestations": "ORPHA:498451", "Overgrowth or tall stature syndrome with skeletal involvement": "ORPHA:498448", "Alpha delta granule deficiency": "ORPHA:734", "Alpha dense granule deficiency": "ORPHA:734", "Combined alpha-delta platelet storage pool deficiency": "ORPHA:734", "Gray platelet syndrome": "ORPHA:721", "Alpha storage pool deficiency": "ORPHA:721", "GPS": "ORPHA:721", "Platelet alpha-granule deficiency": "ORPHA:721", "Genetic inflammatory or rheumatoid-like osteoarthropathy": "ORPHA:498445", "Hypoplasminogenemia": "ORPHA:722", "Plasminogen deficiency type 1": "ORPHA:722", "Congenital prekallikrein deficiency": "ORPHA:749", "Fetal and neonatal alloimmune thrombocytopenia": "ORPHA:853", "FNAIT": "ORPHA:853", "NAIT": "ORPHA:853", "Congenital high-molecular-weight kininogen deficiency": "ORPHA:483", "Aquagenic palmoplantar keratoderma": "ORPHA:498359", "Aquagenic keratoderma": "ORPHA:498359", "Aquagenic syringeal acrokeratoderma": "ORPHA:498359", "Aquagenic wrinkling of the palms": "ORPHA:498359", "Transient reactive papulotranslucent acrokeratoderma": "ORPHA:498359", "X-linked thrombocytopenia with normal platelets": "ORPHA:852", "Syndromic biliary atresia": "ORPHA:498350", "Congenital plasminogen activator inhibitor type 1 deficiency": "ORPHA:465", "Congenital PAI-1 deficiency": "ORPHA:465", "Biliary atresia and associated disorders": "ORPHA:498345", "Reflex epilepsy": "ORPHA:310", "Menstrual cycle-dependent periodic fever": "ORPHA:498251", "Luteal-phase-dependent febrile episode": "ORPHA:498251", "Luteal-phase-dependent periodic fever": "ORPHA:498251", "Menstrual cycle-dependent febrile episode": "ORPHA:498251", "Medullary thyroid carcinoma": "ORPHA:1332", "MTC": "ORPHA:1332", "Neuroendocrine neoplasm": "ORPHA:877", "Gorham-Stout disease": "ORPHA:73", "Gorham disease": "ORPHA:73", "Gorham syndrome": "ORPHA:73", "Idiopathic massive osteolysis": "ORPHA:73", "Progressive massive osteolysis": "ORPHA:73", "Vanishing bone disease": "ORPHA:73", "Phyllodes tumor of the prostate": "ORPHA:498228", "Cystic epithelial-stromal tumors of the prostate": "ORPHA:498228", "Cystosarcoma phyllodes of the prostate": "ORPHA:498228", "Phyllodes type of atypical prostatic hyperplasia": "ORPHA:498228", "Relapsing polychondritis": "ORPHA:728", "Polychondropathia": "ORPHA:728", "Non-acquired combined pituitary hormone deficiency": "ORPHA:467", "Congenital combined pituitary hormone deficiency": "ORPHA:467", "Congenital hypopituitarism": "ORPHA:467", "NON RARE IN EUROPE: Adrenal incidentaloma": "ORPHA:463", "OBSOLETE: Disorder in the hormonal synthesis with or without goiter": "ORPHA:872", "Anaplastic thyroid carcinoma": "ORPHA:142", "Parathyroid carcinoma": "ORPHA:143", "NON RARE IN EUROPE: Central precocious puberty": "ORPHA:759", "NON RARE IN EUROPE: CPP": "ORPHA:759", "NON RARE IN EUROPE: Gonadotropin-dependant precocious puberty": "ORPHA:759", "Generalized glucocorticoid resistance syndrome": "ORPHA:786", "Idiopathic pulmonary artery dilatation": "ORPHA:1676", "Dextrocardia": "ORPHA:1666", "Criss-cross heart": "ORPHA:1461", "Criss-cross atrioventricular relationships": "ORPHA:1461", "Superoinferior ventricles": "ORPHA:1461", "Twisted atrioventricular connections": "ORPHA:1461", "Mitral atresia": "ORPHA:1205", "Supravalvular pulmonary stenosis": "ORPHA:3192", "Primary pediatric heart tumor": "ORPHA:875", "Cardiac tumor of child": "ORPHA:875", "Heart tumor of child": "ORPHA:875", "Chronic relapsing inflammatory optic neuritis": "ORPHA:499085", "CRION": "ORPHA:499085", "Familial atrial fibrillation": "ORPHA:334", "Familial atrial myxoma": "ORPHA:615", "OBSOLETE: Limbic encephalitis with neurexin-3 antibodies": "ORPHA:498700", "Primary adult heart tumor": "ORPHA:874", "Adult cardiac tumor": "ORPHA:874", "Adult heart tumor": "ORPHA:874", "Congenital syphilis": "ORPHA:499009", "MTCT of syphilis": "ORPHA:499009", "Mother-to-child transmission of syphilis": "ORPHA:499009", "OBSOLETE: Tuberculous meningitis": "ORPHA:499004", "Partial atrioventricular septal defect": "ORPHA:1330", "PAVC": "ORPHA:1330", "Partial AVSD": "ORPHA:1330", "Partial atrioventricular canal defect": "ORPHA:1330", "OBSOLETE: Vascular malposition": "ORPHA:2452", "Autoimmune/inflammatory optic neuropathy": "ORPHA:499047", "Familial idiopathic dilatation of the right atrium": "ORPHA:1677", "Short rib-polydactyly syndrome type 5": "ORPHA:498497", "Pili bifurcati": "ORPHA:720", "Primary cutis verticis gyrata": "ORPHA:671", "Trichofolliculoma": "ORPHA:864", "Sugarman brachydactyly": "ORPHA:498602", "Sugarman-Hager-Kulik syndrome": "ORPHA:498602", "OBSOLETE: Pili canulati": "ORPHA:719", "Inherited arrhythmogenic cardiomyopathy": "ORPHA:247", "Arrhythmogenic right ventricular cardiomyopathy": "ORPHA:247", "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome": "ORPHA:498693", "MYBPC1-related autosomal recessive non-lethal AMC syndrome": "ORPHA:498693", "Non-syndromic complex polydactyly": "ORPHA:498470", "Marie Unna hereditary hypotrichosis": "ORPHA:444", "Hypotrichosis, Marie Unna type": "ORPHA:444", "MUHH": "ORPHA:444", "Marie Unna congenital hypotrichosis": "ORPHA:444", "Acquired hypertrichosis lanuginosa": "ORPHA:2221", "Hyaline fibromatosis syndrome": "ORPHA:498474", "Proliferating trichilemmal cyst": "ORPHA:492", "Ectrodactyly with and without other manifestations": "ORPHA:498477", "LRP5-related primary osteoporosis": "ORPHA:498481", "Kerion celsi": "ORPHA:499", "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome": "ORPHA:498485", "Monilethrix": "ORPHA:573", "Moniliform hair syndrome": "ORPHA:573", "Overgrowth syndrome with 2q37 translocation": "ORPHA:498488", "Lichen planopilaris": "ORPHA:525", "Follicular lichen planus": "ORPHA:525", "Lichen follicularis": "ORPHA:525", "Lichen planus follicularis": "ORPHA:525", "Non-syndromic complete hemimelia": "ORPHA:498491", "Alopecia totalis": "ORPHA:700", "Syringocystadenoma papilliferum": "ORPHA:840", "Fistulous vegetative verrucous hydradenoma": "ORPHA:840", "Naevus syringocystadenomatosus papilliferus": "ORPHA:840", "Papillary syringocystadenoma": "ORPHA:840", "SCAP": "ORPHA:840", "Syringadenoma papilliferum": "ORPHA:840", "Mirror-image polydactyly": "ORPHA:498494", "Huriez syndrome": "ORPHA:384", "Palmoplantar hyperkeratosis-sclerodactyly syndrome": "ORPHA:384", "Palmoplantar keratoderma-sclerodactyly syndrome": "ORPHA:384", "Scleroatrophic syndrome": "ORPHA:384", "Sclerotylosis": "ORPHA:384", "Erythrokeratoderma ''en cocardes''": "ORPHA:315", "Degos genodermatosis \"en cocardes\"": "ORPHA:315", "Familial multiple fibrofolliculoma": "ORPHA:338", "Hyperkeratosis lenticularis perstans": "ORPHA:409", "Flegel disease": "ORPHA:409", "Thost-Unna palmoplantar keratoderma": "ORPHA:496", "Dyschromatosis symmetrica hereditaria": "ORPHA:41", "Acropigmentation of Dohi": "ORPHA:41", "Birt-Hogg-Dub\u00e9 syndrome": "ORPHA:122", "Hornstein-Knickenberg syndrome": "ORPHA:122", "Acrokeratoelastoidosis of Costa": "ORPHA:38", "AKE": "ORPHA:38", "PPKP3": "ORPHA:38", "Punctate palmoplantar hyperkeratosis type 3": "ORPHA:38", "Punctate palmoplantar keratoderma type 3": "ORPHA:38", "Acromelanosis": "ORPHA:39", "Dyschromatosis universalis hereditaria": "ORPHA:241", "Progressive symmetric erythrokeratodermia": "ORPHA:316", "Darier-Gottron disease": "ORPHA:316", "Erythrokeratodermia progressiva symmetrica": "ORPHA:316", "Progressive symmetric erythrokeratodermia, Gottron type": "ORPHA:316", "Familial cylindromatosis": "ORPHA:211", "Turban tumor syndrome": "ORPHA:211", "OBSOLETE: Ito hypomelanosis": "ORPHA:435", "OBSOLETE: HI syndrome": "ORPHA:435", "OBSOLETE: Hypomelanosis of Ito": "ORPHA:435", "OBSOLETE: Pigmentary mosaicism, Ito type": "ORPHA:435", "Non-histaminic angioedema": "ORPHA:658", "Angioneurotic edema": "ORPHA:658", "Bradykinine-induced angioedema": "ORPHA:658", "Non histamine-induced angioedema": "ORPHA:658", "Multifocal atrial tachycardia": "ORPHA:3282", "Chaotic atrial tachycardia": "ORPHA:3282", "MAT": "ORPHA:3282", "Systemic capillary leak syndrome": "ORPHA:188", "Capillary hyperpermeability syndrome": "ORPHA:188", "Capillary leak syndrome": "ORPHA:188", "Clarkson disease": "ORPHA:188", "Idiopathic capillary leak syndrome": "ORPHA:188", "SCLS": "ORPHA:188", "Dystrophic epidermolysis bullosa": "ORPHA:303", "DEB": "ORPHA:303", "Dermolytic epidermolysis bullosa": "ORPHA:303", "Epidermolysis bullosa dystrophica": "ORPHA:303", "Junctional epidermolysis bullosa": "ORPHA:305", "Epidermolysis bullosa atrophicans": "ORPHA:305", "JEB": "ORPHA:305", "Ulerythema ophryogenesis": "ORPHA:3406", "Pilomatrix carcinoma": "ORPHA:499182", "Calcified epithelial carcinoma of Malherbe": "ORPHA:499182", "Calcifying epitheliocarcinoma": "ORPHA:499182", "Malignant pilomatricoma": "ORPHA:499182", "Trichomatrical carcinoma": "ORPHA:499182", "Kindler epidermolysis bullosa": "ORPHA:2908", "Congenital bullous poikiloderma": "ORPHA:2908", "Kindler syndrome": "ORPHA:2908", "Poikiloderma of Kindler": "ORPHA:2908", "Antisynthetase syndrome": "ORPHA:81", "AS syndrome": "ORPHA:81", "ASS": "ORPHA:81", "ASyS": "ORPHA:81", "Anti-ARS syndrome": "ORPHA:81", "Anti-Jo1 syndrome": "ORPHA:81", "Anti-aminoacyl-tRNA synthetase syndrome": "ORPHA:81", "Idiopathic optic perineuritis": "ORPHA:499107", "Idiopathic OPN": "ORPHA:499107", "Peripartum cardiomyopathy": "ORPHA:563", "Postpartum cardiomyopathy": "ORPHA:563", "Pyomyositis": "ORPHA:764", "Myositis purulenta tropica": "ORPHA:764", "Myositis tropicans": "ORPHA:764", "PM": "ORPHA:764", "Suppurative myositis": "ORPHA:764", "Tropical pyomyositis": "ORPHA:764", "Isolated optic neuritis": "ORPHA:499096", "ION": "ORPHA:499096", "Reynolds syndrome": "ORPHA:779", "Primary biliary cirrhosis and systemic scleroderma": "ORPHA:779", "Recurrent idiopathic neuroretinitis": "ORPHA:499103", "RINR": "ORPHA:499103", "Susac syndrome": "ORPHA:838", "Retinocochleocerebral vasculopathy": "ORPHA:838", "Cutaneous small vessel vasculitis": "ORPHA:889", "Cutaneous hypersensitivity vasculitis": "ORPHA:889", "Kimura disease": "ORPHA:482", "Eosinophilic lymphogranuloma": "ORPHA:482", "Congenital bile acid synthesis defect": "ORPHA:485631", "BASD": "ORPHA:485631", "Isolated congenital hepatic fibrosis": "ORPHA:485426", "Isolated CHF": "ORPHA:485426", "Prenatal-onset spinal muscular atrophy with congenital bone fractures": "ORPHA:486811", "SMABF": "ORPHA:486811", "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome": "ORPHA:486815", "Congenital muscular dystrophy, Davignon-Chauveau type": "ORPHA:486815", "EMILIN-1-related connective tissue disease": "ORPHA:485418", "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect": "ORPHA:485421", "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome": "ORPHA:485421", "Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome": "ORPHA:485421", "Rare genetic premature ovarian failure": "ORPHA:485382", "16p12.1p12.3 triplication syndrome": "ORPHA:485405", "Tetrasomy 16p12.1p12.3": "ORPHA:485405", "Trip(16)(p12.1p12.3)": "ORPHA:485405", "CLCN4-related X-linked intellectual disability syndrome": "ORPHA:485350", "Raynaud-Claes syndrome": "ORPHA:485350", "Propylthiouracil embryofetopathy": "ORPHA:485358", "PTU embryofetopathy": "ORPHA:485358", "PTU embryopathy": "ORPHA:485358", "Propylthiouracil embryopathy": "ORPHA:485358", "Acquired schizencephaly": "ORPHA:485275", "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome": "ORPHA:482606", "Rare idiopathic macular telangiectasia": "ORPHA:482092", "Adenylosuccinate synthetase-like 1-related distal myopathy": "ORPHA:482601", "ADSSL1-related distal myopathy": "ORPHA:482601", "Digitalis poisoning": "ORPHA:31828", "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome": "ORPHA:480864", "TANGO2-related metabolic encephalopathy-arrhythmia syndrome": "ORPHA:480864", "Pulmonary venoocclusive disease": "ORPHA:31837", "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome": "ORPHA:480907", "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome": "ORPHA:480898", "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability": "ORPHA:480880", "X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females": "ORPHA:480880", "Hypersensitivity pneumonitis": "ORPHA:31740", "Extrinsic allergic alveolitis": "ORPHA:31740", "Isolated neonatal sclerosing cholangitis": "ORPHA:480556", "Aneurysmal bone cyst": "ORPHA:480553", "Non-severe combined immunodeficiency": "ORPHA:480549", "Non-SCID": "ORPHA:480549", "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement": "ORPHA:480541", "Infantile convulsions and choreoathetosis": "ORPHA:31709", "ICCA syndrome": "ORPHA:31709", "Paroxysmal kinesigenic dyskinesia and infantile convulsions": "ORPHA:31709", "Ethylene glycol poisoning": "ORPHA:31826", "Hereditary thrombocytopenia with early-onset myelofibrosis": "ORPHA:480851", "Paraquat poisoning": "ORPHA:31827", "OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome": "ORPHA:480773", "Colchicine poisoning": "ORPHA:31824", "Facial diplegia with paresthesias": "ORPHA:480701", "Facial diplegia with paresthesias variant of GBS": "ORPHA:480701", "Facial diplegia with paresthesias variant of Guillain-Barr\u00e9 syndrome": "ORPHA:480701", "POGLUT1-related limb-girdle muscular dystrophy R21": "ORPHA:480682", "Autosomal recessive limb-girdle muscular dystrophy type 2Z": "ORPHA:480682", "LGMD type 2Z": "ORPHA:480682", "LGMD2Z": "ORPHA:480682", "Limb-girdle muscular dystrophy type 2Z": "ORPHA:480682", "POGLUT1-related LGMD R21": "ORPHA:480682", "Methanol poisoning": "ORPHA:31825", "USP18 deficiency": "ORPHA:481665", "Type 1 interferonopathy of childhood": "ORPHA:481671", "HTRA1-related cerebral small vessel disease": "ORPHA:482072", "HTRA1-related cerebral angiopathy": "ORPHA:482072", "HTRA1-related autosomal dominant cerebral small vessel disease": "ORPHA:482077", "HTRA1-related autosomal dominant cerebral angiopathy": "ORPHA:482077", "Genetic alopecia": "ORPHA:481771", "Familial schizencephaly": "ORPHA:481986", "OBSOLETE: Gastric neuroendocrine tumor type 2": "ORPHA:481475", "OBSOLETE: GNET type 2": "ORPHA:481475", "OBSOLETE: Gastric neuroendocrine tumor type 3": "ORPHA:481478", "OBSOLETE: GNET type 3": "ORPHA:481478", "PYCR2-related microcephaly-progressive leukoencephalopathy": "ORPHA:481152", "OBSOLETE: Gastric neuroendocrine tumor type 1": "ORPHA:481469", "OBSOLETE: GNET type 1": "ORPHA:481469", "Familial Chilblain lupus": "ORPHA:481662", "OBSOLETE: Gastric neuroendocrine tumor type 4": "ORPHA:481481", "OBSOLETE: GNET type 4": "ORPHA:481481", "Gastroenteric neuroendocrine neoplasm": "ORPHA:481508", "Progressive familial intrahepatic cholestasis type 5": "ORPHA:480476", "NR1H4 deficiency": "ORPHA:480476", "PFIC5": "ORPHA:480476", "MYO5B-related progressive familial intrahepatic cholestasis": "ORPHA:480491", "MYO5B deficiency": "ORPHA:480491", "Progressive familial intrahepatic cholestasis type 4": "ORPHA:480483", "PFIC4": "ORPHA:480483", "TJP2 deficit": "ORPHA:480483", "Lethal hydranencephaly-diaphragmatic hernia syndrome": "ORPHA:480528", "Idiopathic peliosis hepatis": "ORPHA:480524", "Idiopathic peliosis hepatitis": "ORPHA:480524", "MSH3-related attenuated familial adenomatous polyposis": "ORPHA:480536", "MSH3-related AFAP": "ORPHA:480536", "MSH3-related attenuated FAP": "ORPHA:480536", "MSH3-related attenuated familial polyposis coli": "ORPHA:480536", "Congenital portosystemic shunt": "ORPHA:480531", "Congenital portosystemic venous fistula": "ORPHA:480531", "Primary intrahepatic lithiasis": "ORPHA:480506", "PIHL": "ORPHA:480506", "Primary hepatolithiasis": "ORPHA:480506", "Choledochal cyst": "ORPHA:480501", "Congenital cystic dilatation of the biliary tract": "ORPHA:480501", "Caroli syndrome": "ORPHA:480520", "Idiopathic ductopenia": "ORPHA:480512", "IAD": "ORPHA:480512", "Idiopathic adult ductopenia": "ORPHA:480512", "Rare hypercholesterolemia": "ORPHA:477811", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome": "ORPHA:477814", "Genetic cardiac malformation": "ORPHA:477805", "Other genetic dermis disorder": "ORPHA:477808", "Syndromic constitutional thrombocytopenia": "ORPHA:477794", "Isolated constitutional thrombocytopenia": "ORPHA:477797", "Constitutional thrombocytopenia without extra-hematopoietic manifestations": "ORPHA:477797", "Non-syndromic constitutional thrombocytopenia": "ORPHA:477797", "Primary condylar hyperplasia": "ORPHA:477781", "Type 1 condylar hyperplasia": "ORPHA:477781", "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder": "ORPHA:477787", "PLA2G4A-related platelet dysfunction": "ORPHA:477787", "Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency": "ORPHA:477787", "Combined oxidative phosphorylation defect type 29": "ORPHA:478029", "COXPD29": "ORPHA:478029", "Combined oxidative phosphorylation defect type 30": "ORPHA:478042", "COXPD30": "ORPHA:478042", "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome": "ORPHA:477993", "Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome": "ORPHA:477993", "Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency": "ORPHA:477857", "MSMD due to complete RORgamma receptor defiency": "ORPHA:477857", "Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency": "ORPHA:477857", "Primary immunodeficiency due to RORC mutation": "ORPHA:477857", "PMP22-RAI1 contiguous gene duplication syndrome": "ORPHA:477817", "17p11.2p12 microduplication syndrome": "ORPHA:477817", "Dup(17)(p11.2p12)": "ORPHA:477817", "Trisomy 17p11.2-p12": "ORPHA:477817", "Trisomy 17p11.2p12": "ORPHA:477817", "Yuan-Harel-Lupski syndrome": "ORPHA:477817", "Kosaki overgrowth syndrome": "ORPHA:477831", "Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome": "ORPHA:477831", "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome": "ORPHA:478049", "Hereditary sensory and autonomic neuropathy type 8": "ORPHA:478664", "HSAN8": "ORPHA:478664", "Hereditary sensory and autonomic neuropathy type VIII": "ORPHA:478664", "Type 1 interferonopathy": "ORPHA:477647", "Fibroblastic rheumatism": "ORPHA:477650", "OBSOLETE: Aym\u00da-Gripp syndrome": "ORPHA:477668", "IL21-related infantile inflammatory bowel disease": "ORPHA:477661", "IL21-related infantile IBD": "ORPHA:477661", "Combined oxidative phosphorylation defect type 26": "ORPHA:477684", "COXPD26": "ORPHA:477684", "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome": "ORPHA:477673", "Pediatric multiple sclerosis": "ORPHA:477738", "OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome": "ORPHA:477697", "OBSOLETE: Familial platelet disorder with predisposition to hematological cancer": "ORPHA:477697", "Pontine autosomal dominant microangiopathy with leukoencephalopathy": "ORPHA:477749", "PADMAL": "ORPHA:477749", "Nodular fasciitis": "ORPHA:477742", "Pseudosarcomatous fasciitis": "ORPHA:477742", "Pseudosarcomatous fibromatosis": "ORPHA:477742", "COL4A1 or COL4A2-related cerebral small vessel disease": "ORPHA:477759", "COL4A1 or COL4A2-related cerebral angiopathy": "ORPHA:477759", "Genetic cerebral small vessel disease": "ORPHA:477754", "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency": "ORPHA:477765", "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency": "ORPHA:477765", "COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency": "ORPHA:477762", "COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency": "ORPHA:477762", "Rare disorder with a moyamoya angiopathy": "ORPHA:477771", "Moyamoya angiopathy": "ORPHA:477768", "Combined oxidative phosphorylation defect type 27": "ORPHA:477774", "COXPD27": "ORPHA:477774", "Demyelinating hereditary motor and sensory neuropathy": "ORPHA:476116", "Demyelinating HMSN": "ORPHA:476116", "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome": "ORPHA:476119", "Axonal hereditary motor and sensory neuropathy": "ORPHA:476109", "Axonal HMSN": "ORPHA:476109", "Combined immunodeficiency due to TFRC deficiency": "ORPHA:476113", "CID due to TFRC deficiency": "ORPHA:476113", "TFRC-related combined immunodeficiency": "ORPHA:476113", "Intermediate Charcot-Marie-Tooth disease": "ORPHA:476123", "Intermediate CMT": "ORPHA:476123", "Intermediate hereditary motor and sensory neuropathy": "ORPHA:476123", "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome": "ORPHA:476126", "Congenital generalized hypercontractile muscle stiffness syndrome": "ORPHA:476406", "PMP2-related Charcot-Marie-Tooth disease type 1": "ORPHA:476394", "PMP2-related CMT1": "ORPHA:476394", "PMP2-related Charcot-Marie-Tooth neuropathy type 1": "ORPHA:476394", "PMP2-related hereditary motor and sensory neuropathy type 1": "ORPHA:476394", "Hypercontractile muscle stiffness syndrome": "ORPHA:476403", "Vibratory urticaria": "ORPHA:493342", "Vibratory angioedema/urticaria": "ORPHA:493342", "OBSOLETE: Vibratory angioedema": "ORPHA:493348", "TELO2-related intellectual disability-neurodevelopmental disorder": "ORPHA:488642", "You-Hoover-Fong syndrome": "ORPHA:488642", "DDX41-related hematologic malignancy predisposition syndrome": "ORPHA:488647", "Distal myopathy, Tateyama type": "ORPHA:488650", "Transketolase deficiency": "ORPHA:488618", "Short stature-developmental delay-congenital heart defect syndrome": "ORPHA:488618", "TKT deficiency": "ORPHA:488618", "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome": "ORPHA:488627", "TBCK-related intellectual disability syndrome": "ORPHA:488632", "Early-onset epilepsy-intellectual disability-brain anomalies syndrome": "ORPHA:488635", "Congenital disorder of glycosylation due to PIGG deficiency": "ORPHA:488635", "PIGG-CDG": "ORPHA:488635", "Osteofibrous dysplasia": "ORPHA:488265", "Acute macular neuroretinopathy": "ORPHA:488239", "AMNR": "ORPHA:488239", "Split-foot malformation-mesoaxial polydactyly syndrome": "ORPHA:488232", "SFMMP": "ORPHA:488232", "Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome": "ORPHA:488232", "Autosomal dominant Charcot-Marie-Tooth disease type 2W": "ORPHA:488333", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation": "ORPHA:488333", "CMT2W": "ORPHA:488333", "14q32 duplication syndrome": "ORPHA:488280", "Dup(14)q(32)": "ORPHA:488280", "Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication": "ORPHA:488280", "Trisomy 14q32": "ORPHA:488280", "Congenital amyoplasia": "ORPHA:488586", "Amyoplasia congenita": "ORPHA:488586", "SIX2-related frontonasal dysplasia": "ORPHA:488437", "SIX2-related FND": "ORPHA:488437", "Camptodactyly syndrome, Guadalajara type 3": "ORPHA:488434", "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome": "ORPHA:488613", "Autosomal recessive spastic paraplegia type 76": "ORPHA:488594", "SPG76": "ORPHA:488594", "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome": "ORPHA:488197", "NON RARE IN EUROPE: Non-small cell lung cancer": "ORPHA:488201", "NON RARE IN EUROPE: NSCLC": "ORPHA:488201", "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome": "ORPHA:488168", "SMO deficiency": "ORPHA:488168", "Sterol-C4-methyl oxidase deficiency": "ORPHA:488168", "Female infertility due to oocyte meiotic arrest": "ORPHA:488191", "Takenouchi-Kosaki syndrome": "ORPHA:487796", "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome": "ORPHA:487796", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation": "ORPHA:487814", "CMT2 due to DGAT2 mutation": "ORPHA:487814", "Pediatric collagenous gastritis": "ORPHA:487809", "Childhood-onset collagenous gastritis": "ORPHA:487809", "Pierpont syndrome": "ORPHA:487825", "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome": "ORPHA:487825", "Plantar lipomatosis-unusual facies-developmental delay syndrome": "ORPHA:487825", "Rare pediatric rheumatologic disease": "ORPHA:486955", "Rat-bite fever": "ORPHA:31205", "Nocardiosis": "ORPHA:31204", "Hypobetalipoproteinemia": "ORPHA:31154", "Melioidosis": "ORPHA:31202", "Burkholderia pseudomallei infection": "ORPHA:31202", "Tangier disease": "ORPHA:31150", "ATP-binding cassette transporter A1 deficiency": "ORPHA:31150", "Analphalipoproteinemia": "ORPHA:31150", "Hypoalphalipoproteinemia": "ORPHA:31153", "NON RARE IN EUROPE: Oral erosive lichen": "ORPHA:31142", "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement": "ORPHA:31043", "FHHNC without severe ocular involvement": "ORPHA:31043", "HOMG3": "ORPHA:31043", "Renal hypomagnesemia type 3": "ORPHA:31043", "Dermatofibrosarcoma protuberans": "ORPHA:31112", "DFSP": "ORPHA:31112", "Primary hypomagnesemia with secondary hypocalcemia": "ORPHA:30924", "HOMG1": "ORPHA:30924", "HSH": "ORPHA:30924", "Hypomagnesemia caused by selective magnesium malabsorption": "ORPHA:30924", "Hypomagnesemia intestinal type 1": "ORPHA:30924", "Intestinal hypomagnesemia with secondary hypocalcemia": "ORPHA:30924", "PHSH": "ORPHA:30924", "Hereditary arginine vasopressin deficiency": "ORPHA:30925", "Hereditary CDI": "ORPHA:30925", "Hereditary neurogenic diabetes insipidus": "ORPHA:30925", "BVES-related limb-girdle muscular dystrophy": "ORPHA:476084", "Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome": "ORPHA:476084", "BVES-related LGMD": "ORPHA:476084", "LGMD R25 BVES-related": "ORPHA:476084", "LGMD type 2X": "ORPHA:476084", "LGMD2X": "ORPHA:476084", "Limb-girdle muscular dystrophy 2X": "ORPHA:476084", "Erythrokeratodermia-cardiomyopathy syndrome": "ORPHA:476096", "EKC syndrome": "ORPHA:476096", "OBSOLETE: Hereditary pediatric Beh\u00e7et-like disease": "ORPHA:476102", "OBSOLETE: Beh\u00e7et-like disease due to HA20": "ORPHA:476102", "OBSOLETE: Beh\u00e7et-like disease due to haploinsufficiency of A20": "ORPHA:476102", "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome": "ORPHA:476093", "Genetic lethal multiple congenital anomalies/dysmorphic syndrome": "ORPHA:471383", "Rare congenital anomaly of ventricular septum": "ORPHA:474347", "Congenital anomaly of interventricular communication": "ORPHA:474347", "Congenital ventricular septal anomaly": "ORPHA:474347", "Congenital brain dysgenesis due to glutamine synthetase deficiency": "ORPHA:71278", "Inherited GS deficiency": "ORPHA:71278", "Inherited glutamine synthetase deficiency": "ORPHA:71278", "CANOMAD syndrome": "ORPHA:71279", "CANDA syndrome": "ORPHA:71279", "Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome": "ORPHA:71279", "Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies": "ORPHA:71279", "Rare central nervous system and retinal vascular disease": "ORPHA:71281", "OBSOLETE: Auriculoocular anomalies-cleft lip syndrome": "ORPHA:71270", "Split hand-split foot-deafness syndrome": "ORPHA:71271", "Split hand-split foot-hearing loss syndrome": "ORPHA:71271", "Sandifer syndrome": "ORPHA:71272", "Renal nutcracker syndrome": "ORPHA:71273", "Left renal vein entrapment syndrome": "ORPHA:71273", "RNS": "ORPHA:71273", "Disseminated peritoneal leiomyomatosis": "ORPHA:71274", "DPL": "ORPHA:71274", "Diffuse peritoneal leiomyomatosis": "ORPHA:71274", "LPD": "ORPHA:71274", "Leiomyomatosis peritonealis disseminate": "ORPHA:71274", "Rh deficiency syndrome": "ORPHA:71275", "Rh-null syndrome": "ORPHA:71275", "Silent sinus syndrome": "ORPHA:71276", "CMA grade 3": "ORPHA:71276", "Chronic maxillary atelectasis grade III": "ORPHA:71276", "Imploding antrum syndrome": "ORPHA:71276", "Classic glucose transporter type 1 deficiency syndrome": "ORPHA:71277", "Classic GLUT1 deficiency syndrome": "ORPHA:71277", "Classic GLUT1-DS": "ORPHA:71277", "De Vivo disease": "ORPHA:71277", "Encephalopathy due to GLUT1 deficiency": "ORPHA:71277", "Rare soft tissue tumor": "ORPHA:71209", "Rare mesenchymal tumor": "ORPHA:71209", "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency": "ORPHA:71212", "Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency": "ORPHA:71212", "Hyperinsulinism due to SCHAD deficiency": "ORPHA:71212", "Hyperinsulinism due to glutamodehydrogenase deficiency": "ORPHA:71212", "SCHAD deficiency": "ORPHA:71212", "Neuromyelitis optica spectrum disorder": "ORPHA:71211", "Devic disease": "ORPHA:71211", "NMOSD": "ORPHA:71211", "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome": "ORPHA:71267", "Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome": "ORPHA:71267", "Retinal capillary malformation": "ORPHA:71213", "Retinal cavernous hemangioma": "ORPHA:71213", "OBSOLETE: Benign exophthalmos syndrome": "ORPHA:71269", "OBSOLETE: BES": "ORPHA:71269", "Rare pulmonary hypertension": "ORPHA:71198", "Autoimmune thrombocytopenia": "ORPHA:71203", "Rare hemorrhagic disorder due to a constitutional platelet anomaly": "ORPHA:71202", "Rare bleeding disorder due to a constitutional platelet anomaly": "ORPHA:71202", "Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia": "ORPHA:71202", "Rare coagulopathy due to a constitutional platelet anomaly": "ORPHA:71202", "Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia": "ORPHA:71202", "Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia": "ORPHA:71202", "Idiopathic gastroparesis": "ORPHA:558411", "Chronic thromboembolic pulmonary hypertension": "ORPHA:70591", "CTEPH": "ORPHA:70591", "Transient predisposition to invasive pyogenic bacterial infection": "ORPHA:70592", "Bronchopulmonary dysplasia": "ORPHA:70589", "BPD": "ORPHA:70589", "Infantile apnea": "ORPHA:70590", "Apnea in full-term infants": "ORPHA:70590", "Apnea of infancy": "ORPHA:70590", "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome": "ORPHA:70595", "SANDO": "ORPHA:70595", "Congenital Epstein-Barr virus infection": "ORPHA:70596", "Antenatal EBV infection": "ORPHA:70596", "Antenatal Epstein-Barr virus infection": "ORPHA:70596", "Congenital EBV infection": "ORPHA:70596", "Mother-to-child transmission of Epstein-Barr virus infection": "ORPHA:70596", "Immunodeficiency due to selective anti-polysaccharide antibody deficiency": "ORPHA:70593", "SPAD": "ORPHA:70593", "Selective anti-polysaccharide antibody deficiency": "ORPHA:70593", "Specific anti-polysaccharide antibody deficiency": "ORPHA:70593", "Specific polysaccharide antibody deficiency": "ORPHA:70593", "Dopa-responsive dystonia due to sepiapterin reductase deficiency": "ORPHA:70594", "Autosomal recessive sepiapterin reductase-deficient DRD": "ORPHA:70594", "DRD due to SRD": "ORPHA:70594", "SPR deficiency": "ORPHA:70594", "Sepiapterin reductase deficiency": "ORPHA:70594", "Adult acute respiratory distress syndrome": "ORPHA:70578", "Adult ARDS": "ORPHA:70578", "Small cell lung cancer": "ORPHA:70573", "SCLC": "ORPHA:70573", "Post-transplant lymphoproliferative disease": "ORPHA:70568", "PTLD": "ORPHA:70568", "Meconium aspiration syndrome": "ORPHA:70588", "Infant acute respiratory distress syndrome": "ORPHA:70587", "Infant ARDS": "ORPHA:70587", "Infant respiratory distress syndrome": "ORPHA:70587", "Neonatal respiratory distress syndrome": "ORPHA:70587", "Leigh syndrome with cardiomyopathy": "ORPHA:70474", "Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency": "ORPHA:70474", "Cardiomyopathy with myopathy due to COX deficiency": "ORPHA:70474", "Leigh disease with myopathy": "ORPHA:70474", "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type": "ORPHA:70472", "COX deficiency, French-Canadian type": "ORPHA:70472", "Cytochrome C oxidase deficiency, French-Canadian type": "ORPHA:70472", "Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type": "ORPHA:70472", "Leigh syndrome, French-Canadian type": "ORPHA:70472", "Leigh syndrome, Saguenay-Lac-Saint-Jean type": "ORPHA:70472", "SLSJ-COX deficiency": "ORPHA:70472", "OBSOLETE: Hyperlipoproteinemia type 5": "ORPHA:70470", "OBSOLETE: HLP type 5": "ORPHA:70470", "OBSOLETE: Major hyperlipidemia": "ORPHA:70470", "Cholangiocarcinoma": "ORPHA:70567", "Bile duct cancer": "ORPHA:70567", "CCA": "ORPHA:70567", "Rare disorder with Hirschsprung disease as a major feature": "ORPHA:557866", "Carcinoma of esophagus": "ORPHA:70482", "Esophageal carcinoma": "ORPHA:70482", "Vernal keratoconjunctivitis": "ORPHA:70476", "Spring catarrh": "ORPHA:70476", "Radiation proctitis": "ORPHA:70475", "Circumscribed palmoplantar hypokeratosis": "ORPHA:69744", "Circumscribed acral hypokeratosis": "ORPHA:69744", "Warty dyskeratoma": "ORPHA:69745", "Follicular dyskeratoma": "ORPHA:69745", "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome": "ORPHA:69735", "Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome": "ORPHA:69735", "Bilateral acute depigmentation of the iris": "ORPHA:69736", "BADI": "ORPHA:69736", "Bosley-Salih-Alorainy syndrome": "ORPHA:69737", "Athabaskan brainstem dysgenesis syndrome": "ORPHA:69739", "ABSD": "ORPHA:69739", "Athabascan brainstem dysgenesis syndrome": "ORPHA:69739", "Navajo brainstem syndrome": "ORPHA:69739", "Low phospholipid-associated cholelithiasis": "ORPHA:69663", "ABCB4-related cholelithiasis": "ORPHA:69663", "LPAC": "ORPHA:69663", "Intrahepatic cholestasis of pregnancy": "ORPHA:69665", "Gravidic intrahepatic cholestasis": "ORPHA:69665", "Pregnancy-related cholestasis": "ORPHA:69665", "Recurrent intrahepatic cholestasis of pregnancy": "ORPHA:69665", "Tyrosinemia type 3": "ORPHA:69723", "Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency": "ORPHA:69723", "Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency": "ORPHA:69723", "Tyrosinemia due to HPD deficiency": "ORPHA:69723", "Tyrosinemia type III": "ORPHA:69723", "NON RARE IN EUROPE: Immunoglobulin A deficiency": "ORPHA:69127", "NON RARE IN EUROPE: IgA deficiency": "ORPHA:69127", "NON RARE IN EUROPE: IgAD": "ORPHA:69127", "NON RARE IN EUROPE: SIgAD": "ORPHA:69127", "NON RARE IN EUROPE: Selective immunoglobulin A deficiency": "ORPHA:69127", "PAPA syndrome": "ORPHA:69126", "FRA": "ORPHA:69126", "Familial recurrent arthritis": "ORPHA:69126", "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome": "ORPHA:69126", "Naegeli-Franceschetti-Jadassohn syndrome": "ORPHA:69087", "NFJ syndrome": "ORPHA:69087", "Naegeli syndrome": "ORPHA:69087", "Anonychia with flexural pigmentation": "ORPHA:69125", "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome": "ORPHA:69088", "OL-EDA-ID": "ORPHA:69088", "Ectodermal dysplasia with natal teeth, Turnpenny type": "ORPHA:69083", "Odonto-tricho-ungual-digito-palmar syndrome": "ORPHA:69082", "OTUDP syndrome": "ORPHA:69082", "Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type": "ORPHA:69082", "Limb-mammary syndrome": "ORPHA:69085", "Pure hair and nail ectodermal dysplasia": "ORPHA:69084", "HNED": "ORPHA:69084", "Hair-nail ectodermal dysplasia": "ORPHA:69084", "PHNED": "ORPHA:69084", "Rhabdoid tumor": "ORPHA:69077", "Malignant rhabdoid tumor": "ORPHA:69077", "Familial renal glucosuria": "ORPHA:69076", "Familial renal glycosuria": "ORPHA:69076", "SGLT2 deficiency": "ORPHA:69076", "Liposarcoma": "ORPHA:69078", "Idiopathic steroid-sensitive nephrotic syndrome": "ORPHA:69061", "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization": "ORPHA:69063", "Alloimmune neonatal renal disease": "ORPHA:69063", "FMAIG": "ORPHA:69063", "Fetomaternal alloimmunization with antenatal glomerulopathies": "ORPHA:69063", "Neonatal glomerulopathy due to neprilysin alloimmunization": "ORPHA:69063", "Neonatal membranous glomerulopathy with maternal NEP deficiency": "ORPHA:69063", "Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency": "ORPHA:69063", "3-methylglutaconic aciduria type 4": "ORPHA:67048", "MGA4": "ORPHA:67048", "Dysostosis with brachydactyly": "ORPHA:69028", "3-methylglutaconic aciduria type 1": "ORPHA:67046", "3-methylglutaconyl-CoA hydratase deficiency": "ORPHA:67046", "3MG-CoA hydratase deficiency": "ORPHA:67046", "MGA1": "ORPHA:67046", "3-methylglutaconic aciduria type 3": "ORPHA:67047", "Autosomal recessive optic atrophy plus syndrome": "ORPHA:67047", "Autosomal recessive optic atrophy type 3": "ORPHA:67047", "Costeff optic atrophy syndrome": "ORPHA:67047", "Costeff syndrome": "ORPHA:67047", "Infantile optic atrophy with chorea and spastic paraplegia": "ORPHA:67047", "MGA3": "ORPHA:67047", "Thrombocytopenia with congenital dyserythropoietic anemia": "ORPHA:67044", "Congenital dyserythropoietic anemia with thombocytopenia": "ORPHA:67044", "X-linked congenital dyserythropoietic anemia with thrombocytopenia": "ORPHA:67044", "XDAT": "ORPHA:67044", "X-linked intellectual disability with isolated growth hormone deficiency": "ORPHA:67045", "MRGH": "ORPHA:67045", "Late-onset retinal degeneration": "ORPHA:67042", "Autosomal dominant late-onset retinal degeneration": "ORPHA:67042", "LORD": "ORPHA:67042", "Amoebic keratitis": "ORPHA:67043", "Segmental odontomaxillary dysplasia": "ORPHA:67039", "Hyaluronidase deficiency": "ORPHA:67041", "MPS9": "ORPHA:67041", "MPSIX": "ORPHA:67041", "Mucopolysaccharidosis type 9": "ORPHA:67041", "Mucopolysaccharidosis type IX": "ORPHA:67041", "OBSOLETE: Squamous cell carcinoma of head and neck": "ORPHA:67037", "OBSOLETE: HNSCC": "ORPHA:67037", "OBSOLETE: Head and neck squamous cell carcinoma": "ORPHA:67037", "B-cell chronic lymphocytic leukemia": "ORPHA:67038", "B-CLL": "ORPHA:67038", "B-cell chronic lymphoid leukemia": "ORPHA:67038", "CLL": "ORPHA:67038", "CLL/SLL": "ORPHA:67038", "Chronic lymphocytic leukemia": "ORPHA:67038", "Small lymphocytic lymphoma": "ORPHA:67038", "Extracutaneous mastocytoma": "ORPHA:66662", "Autosomal dominant optic atrophy and cataract": "ORPHA:67036", "Autosomal dominant optic atrophy type 3": "ORPHA:67036", "OPA3, autosomal dominant": "ORPHA:67036", "Mast cell sarcoma": "ORPHA:66661", "Cutaneous mastocytosis": "ORPHA:66646", "Diaphanospondylodysostosis": "ORPHA:66637", "DSD": "ORPHA:90771", "Dilated cardiomyopathy with ataxia": "ORPHA:66634", "3-methylglutaconic aciduria type 5": "ORPHA:66634", "DCMA syndrome": "ORPHA:66634", "MGA5": "ORPHA:66634", "Sensorineural hearing loss-early graying-essential tremor syndrome": "ORPHA:66633", "Sensorineural deafness-early graying-essential tremor syndrome": "ORPHA:66633", "CEDNIK syndrome": "ORPHA:66631", "Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome": "ORPHA:66631", "Congenital pseudoarthrosis of the clavicle": "ORPHA:66630", "Congenital pseudarthrosis of the clavicle": "ORPHA:66630", "Goldberg-Shprintzen megacolon syndrome": "ORPHA:66629", "GOSHS": "ORPHA:66629", "Megacolon-microcephaly syndrome": "ORPHA:66629", "Obesity due to congenital leptin deficiency": "ORPHA:66628", "Tenosynovial giant cell tumor": "ORPHA:66627", "Diffuse-type GCT": "ORPHA:66627", "Diffuse-type giant cell tumor": "ORPHA:66627", "Pigmented villonodular synovitis": "ORPHA:66627", "TGCT": "ORPHA:66627", "TSGCT": "ORPHA:66627", "Cerebrooculonasal syndrome": "ORPHA:66625", "PANDAS": "ORPHA:66624", "Pediatric autoimmune disorders associated with Streptococcus infections": "ORPHA:66624", "Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections": "ORPHA:66624", "Tako-Tsubo cardiomyopathy": "ORPHA:66529", "Ampulla cardiomyopathy": "ORPHA:66529", "Apical ballooning syndrome": "ORPHA:66529", "Ballooning cardiomyopathy": "ORPHA:66529", "Broken heart syndrome": "ORPHA:66529", "Stress cardiomyopathy": "ORPHA:66529", "Tako-Tsubo syndrome": "ORPHA:66529", "Takotsubo cardiomyopathy": "ORPHA:66529", "Takotsubo syndrome": "ORPHA:66529", "Transient left ventricular apical ballooning syndrome": "ORPHA:66529", "Short fifth metacarpals-insulin resistance syndrome": "ORPHA:66518", "Goodman syndrome": "ORPHA:65798", "ACPS4": "ORPHA:65798", "Acrocephalopolysyndactyly type 4": "ORPHA:65798", "Timothy syndrome": "ORPHA:65283", "LQT8": "ORPHA:65283", "Long QT syndrome type 8": "ORPHA:65283", "Long QT syndrome-syndactyly syndrome": "ORPHA:65283", "Carvajal syndrome": "ORPHA:65282", "KWWH type II": "ORPHA:65282", "Keratoderma with woolly hair type II": "ORPHA:65282", "Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome": "ORPHA:65282", "Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome": "ORPHA:65282", "Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome": "ORPHA:65282", "Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome": "ORPHA:65282", "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome": "ORPHA:562639", "Overlap syndromes of autoimmune liver diseases": "ORPHA:562639", "PBC/PSC and AIH overlap syndrome": "ORPHA:562639", "Lhermitte-Duclos disease": "ORPHA:65285", "Dysplastic gangliocytoma of the cerebellum": "ORPHA:65285", "LDD": "ORPHA:65285", "Biotin-thiamine-responsive basal ganglia disease": "ORPHA:65284", "BBGD": "ORPHA:65284", "BTBGD": "ORPHA:65284", "Biotin-responsive basal ganglia disease": "ORPHA:65284", "Beta-ureidopropionase deficiency": "ORPHA:65287", "Beta-alanine synthase deficiency": "ORPHA:65287", "3q29 microdeletion syndrome": "ORPHA:65286", "3q subtelomere deletion syndrome": "ORPHA:65286", "3qter deletion": "ORPHA:65286", "Del(3)(q29)": "ORPHA:65286", "Monosomy 3q29": "ORPHA:65286", "Monosomy 3qter": "ORPHA:65286", "Vaginal atresia": "ORPHA:65681", "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome": "ORPHA:65288", "Pancreatic and cerebellar agenesis": "ORPHA:65288", "Isolated focal cortical dysplasia": "ORPHA:65683", "Epilepsy due to FCD": "ORPHA:65683", "Benign recurrent intrahepatic cholestasis": "ORPHA:65682", "BRIC": "ORPHA:65682", "Summerskill-Walshe-Tygstrup syndrome": "ORPHA:65682", "Arthrogryposis-severe scoliosis syndrome": "ORPHA:65720", "Distal arthrogryposis type 4": "ORPHA:65720", "Distal arthrogryposis type IID": "ORPHA:65720", "Monomelic amyotrophy": "ORPHA:65684", "Benign focal amyotrophy": "ORPHA:65684", "Hirayama disease": "ORPHA:65684", "JMADUE": "ORPHA:65684", "Juvenile muscular atrophy of distal upper extremity": "ORPHA:65684", "Juvenile muscular atrophy of the distal upper limb": "ORPHA:65684", "Multiple self-healing squamous epithelioma": "ORPHA:65748", "Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type": "ORPHA:65748", "Ferguson-Smith disease": "ORPHA:65748", "MSSE": "ORPHA:65748", "Multiple keratoacanthoma, Ferguson-Smith type": "ORPHA:65748", "Self-healing squamous epithelioma type 1": "ORPHA:65748", "Autosomal dominant multiple pterygium syndrome": "ORPHA:65743", "Distal arthrogryposis type 8": "ORPHA:65743", "Carpenter syndrome": "ORPHA:65759", "ACPS2": "ORPHA:65759", "Acrocephalopolysyndactyly type 2": "ORPHA:65759", "Charcot-Marie-Tooth disease type 1": "ORPHA:65753", "Autosomal dominant demyelinating Charcot-Marie-Tooth disease": "ORPHA:65753", "CMT1": "ORPHA:65753", "Charcot-Marie-Tooth neuropathy type 1": "ORPHA:65753", "Hereditary motor and sensory neuropathy type 1": "ORPHA:65753", "IgG4-related thyroid disease": "ORPHA:64744", "Riedel disease": "ORPHA:64744", "Riedel thyroiditis": "ORPHA:64744", "Pruritic urticarial papules and plaques of pregnancy": "ORPHA:64745", "PUPPP": "ORPHA:64745", "Polymorphic eruption of pregnancy": "ORPHA:64745", "Autosomal dominant Charcot-Marie-Tooth disease type 2": "ORPHA:64746", "Autosomal dominant axonal Charcot-Marie-Tooth disease": "ORPHA:64746", "CMT2": "ORPHA:64746", "Hereditary motor and sensory neuropathy type 2": "ORPHA:64746", "X-linked Charcot-Marie-Tooth disease": "ORPHA:64747", "CMTX": "ORPHA:64747", "X-linked hereditary motor and sensory neuropathy": "ORPHA:64747", "Dejerine-Sottas syndrome": "ORPHA:64748", "Charcot-Marie-Tooth disease type 3": "ORPHA:64748", "HMSN 3": "ORPHA:64748", "HMSN III": "ORPHA:64748", "Hereditary motor and sensory neuropathy type 3": "ORPHA:64748", "Hereditary motor and sensory neuropathy type III": "ORPHA:64748", "Charcot-Marie-Tooth disease type 4": "ORPHA:64749", "AR-CMT1": "ORPHA:64749", "Autosomal recessive demyelinating Charcot-Marie-Tooth": "ORPHA:64749", "CMT4": "ORPHA:64749", "Hereditary motor and sensory neuropathy type 5": "ORPHA:64751", "Charcot-Marie-Tooth disease-pyramidal features syndrome": "ORPHA:64751", "HMSN 5": "ORPHA:64751", "HMSN V": "ORPHA:64751", "Hereditary motor and sensory neuropathy type V": "ORPHA:64751", "Heme oxygenase-1 deficiency": "ORPHA:562509", "HO-1 deficiency": "ORPHA:562509", "Hereditary sensory and autonomic neuropathy type 5": "ORPHA:64752", "CIP": "ORPHA:64752", "Congenital insensitivity to pain and thermal analgesia": "ORPHA:64752", "HSAN5": "ORPHA:64752", "Hereditary sensory and autonomic neuropathy type V": "ORPHA:64752", "Spinocerebellar ataxia with axonal neuropathy type 2": "ORPHA:64753", "AOA2": "ORPHA:64753", "Ataxia-oculomotor apraxia type 2": "ORPHA:64753", "SCAN 2": "ORPHA:64753", "SCAR1": "ORPHA:64753", "Nevus comedonicus syndrome": "ORPHA:64754", "Congenital limbs-face contractures-hypotonia-developmental delay syndrome": "ORPHA:562528", "CLIFAHDD syndrome": "ORPHA:562528", "Becker nevus syndrome": "ORPHA:64755", "Becker melanosis": "ORPHA:64755", "Becker naevus syndrome": "ORPHA:64755", "Pigmentary hairy epidermal nevus": "ORPHA:64755", "Pigmented hairy epidermal naevus": "ORPHA:64755", "Pigmented hairy epidermal nevus": "ORPHA:64755", "Anterior maxillary protrusion-strabismus-intellectual disability syndrome": "ORPHA:562559", "MRAMS syndrome": "ORPHA:562559", "Autosomal recessive extra-oral halitosis": "ORPHA:562538", "MTO-deficiency": "ORPHA:562538", "Methanethiol oxidase deficiency": "ORPHA:562538", "NON RARE IN EUROPE: Perineural cyst": "ORPHA:65250", "NON RARE IN EUROPE: Tarlov cyst": "ORPHA:65250", "OBSOLETE: Lymphocytic colitis": "ORPHA:65279", "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome": "ORPHA:562569", "Tolosa-Hunt syndrome": "ORPHA:64686", "Painful ophthalmoplegia": "ORPHA:64686", "Benign idiopathic neonatal seizures": "ORPHA:64545", "BINS": "ORPHA:64545", "Benign nonfamilial neonatal seizures": "ORPHA:64545", "Acrofacial dysostosis, Kennedy-Teebi type": "ORPHA:64542", "Kennedy-Teebi syndrome": "ORPHA:64542", "Childhood absence epilepsy": "ORPHA:64280", "Pyknolepsy": "ORPHA:64280", "Granulomatous mastitis": "ORPHA:64722", "Idiopathic granulomatous mastitis": "ORPHA:64722", "Leiomyosarcoma": "ORPHA:64720", "Trench fever": "ORPHA:64694", "Bartonellosis due to Bartonella quintana infection": "ORPHA:64694", "Bartonella bacilliformis infection": "ORPHA:64692", "Bartonellosis due to infection with Bartonella bacilliformis": "ORPHA:64692", "Carrion disease": "ORPHA:64692", "Ovarian hyperstimulation syndrome": "ORPHA:64739", "OHSS": "ORPHA:64739", "NON RARE IN EUROPE: Non rare thrombophilia": "ORPHA:64738", "Iridocorneal endothelial syndrome": "ORPHA:64734", "ICE syndrome": "ORPHA:64734", "Hepatoportal sclerosis": "ORPHA:64743", "Obliterative portal venopathy": "ORPHA:64743", "Pleuropulmonary blastoma": "ORPHA:64742", "Pulmonary blastoma": "ORPHA:64741", "Pneumoblastoma": "ORPHA:64741", "FOXG1 syndrome": "ORPHA:561854", "FOXG1-related epileptic-dyskinetic encephalopathy": "ORPHA:561854", "NON RARE IN EUROPE: Recurrent acute pancreatitis": "ORPHA:64740", "HERNS syndrome": "ORPHA:63261", "Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome": "ORPHA:63261", "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis": "ORPHA:63269", "Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome": "ORPHA:63269", "Iniencephaly": "ORPHA:63259", "Craniorachischisis": "ORPHA:63260", "OBSOLETE: Isolated oxycephaly": "ORPHA:63440", "OBSOLETE: Acrocephaly": "ORPHA:63440", "OBSOLETE: Hypsicephaly": "ORPHA:63440", "OBSOLETE: Hypsocephaly": "ORPHA:63440", "OBSOLETE: Pyrgocephaly": "ORPHA:63440", "OBSOLETE: Turricephaly": "ORPHA:63440", "Angel-shaped phalango-epiphyseal dysplasia": "ORPHA:63442", "ASPED": "ORPHA:63442", "Distal myopathy with posterior leg and anterior hand involvement": "ORPHA:63273", "Distal ABD-filaminopathy": "ORPHA:63273", "Pemphigoid gestationis": "ORPHA:63275", "Gestational pemphigoid": "ORPHA:63275", "Pattern dystrophy": "ORPHA:63454", "Patterned dystrophy of the retinal pigment epithelium": "ORPHA:63454", "Paraneoplastic pemphigus": "ORPHA:63455", "Rare epithelial tumor of stomach": "ORPHA:63443", "Rare gastric epithelial tumor": "ORPHA:63443", "Acrocapitofemoral dysplasia": "ORPHA:63446", "IgG4-related mediastinitis": "ORPHA:63999", "Fibrosing mediastinitis": "ORPHA:63999", "Mediastinal fibrosis": "ORPHA:63999", "Sclerosing mediastinitis": "ORPHA:63999", "Schisis association": "ORPHA:63862", "Megalencephaly-capillary malformation-polymicrogyria syndrome": "ORPHA:60040", "MCAP": "ORPHA:60040", "MCM": "ORPHA:60040", "MCMTC": "ORPHA:60040", "Macrocephaly-capillary malformation syndrome": "ORPHA:60040", "Macrocephaly-cutis marmorata telangiectatica congenita syndrome": "ORPHA:60040", "Megalencephaly-capillary malformation syndrome": "ORPHA:60040", "Megalencephaly-cutis marmorata telangiectatica congenita syndrome": "ORPHA:60040", "Pudendal nerve entrapment syndrome": "ORPHA:60039", "Alcock syndrome": "ORPHA:60039", "Pudendal algia": "ORPHA:60039", "Pudendal neuralgia": "ORPHA:60039", "Pudendal neuralgia by pudendal nerve entrapment": "ORPHA:60039", "Pudendal neuropathic pain syndrome": "ORPHA:60039", "Pudendal neuropathy": "ORPHA:60039", "Pudendalgia": "ORPHA:60039", "Congenital heart block": "ORPHA:60041", "Congenital atrioventricular block": "ORPHA:60041", "Recurrent respiratory papillomatosis": "ORPHA:60032", "Idiopathic bronchiectasis": "ORPHA:60033", "Neonatal ichthyosis-sclerosing cholangitis syndrome": "ORPHA:59303", "IHSC": "ORPHA:59303", "Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome": "ORPHA:59303", "NISCH syndrome": "ORPHA:59303", "Isolated congenital hypoglossia": "ORPHA:563954", "Gestational trophoblastic neoplasm": "ORPHA:59305", "GTN": "ORPHA:59305", "Isolated congenital aglossia": "ORPHA:563951", "McLeod neuroacanthocytosis syndrome": "ORPHA:59306", "MLS": "ORPHA:59306", "X-linked McLeod syndrome": "ORPHA:59306", "Schilder disease": "ORPHA:59298", "Myelinoclastic diffuse sclerosis": "ORPHA:59298", "Enlarged parietal foramina": "ORPHA:60015", "Catlin marks": "ORPHA:60015", "Fenestrae parietales symmetricae": "ORPHA:60015", "Foramina parietalia permagna": "ORPHA:60015", "Hereditary cranium bifidum": "ORPHA:60015", "Symmetric parietal foramina": "ORPHA:60015", "Osteochondrosis of the metatarsal bone": "ORPHA:564003", "Avascular necrosis of the metatarsal bone": "ORPHA:564003", "Freiberg disease": "ORPHA:564003", "Freiberg infraction": "ORPHA:564003", "Pulmonary alveolar microlithiasis": "ORPHA:60025", "Osteochondrosis of the tarsal bone": "ORPHA:563991", "Aseptic necrosis of the tarsal bone": "ORPHA:563991", "Avascular necrosis of the tarsal bone": "ORPHA:563991", "Kohler disease": "ORPHA:563991", "Pulmonary nodular lymphoid hyperplasia": "ORPHA:60026", "Pulmonary pseudolymphoma": "ORPHA:60026", "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome": "ORPHA:564178", "Genetic nephrotic syndrome": "ORPHA:564127", "Hereditary nephrotic syndrome": "ORPHA:564127", "Loeys-Dietz syndrome": "ORPHA:60030", "Aortic aneurysm syndrome due to TGF-beta receptors anomalies": "ORPHA:60030", "Rhombencephalosynapsis": "ORPHA:59315", "Argyria": "ORPHA:60014", "Silver staining": "ORPHA:60014", "NON RARE IN EUROPE: Cirrhotic cardiomyopathy": "ORPHA:57777", "Medial condensing osteitis of the clavicle": "ORPHA:57196", "Osteitis condensans of the clavicle": "ORPHA:57196", "OBSOLETE: Aseptic osteitis": "ORPHA:57194", "Furuncular myiasis due to Cordylobia rodhaini": "ORPHA:563690", "Furunculoid myiasis due to Cordylobia rodhaini": "ORPHA:563690", "Furunculous myiasis due to Cordylobia rodhaini": "ORPHA:563690", "Rare hepatic disease": "ORPHA:57146", "Syndromic congenital sodium diarrhea": "ORPHA:563708", "Syndromic congenital tufting enteropathy": "ORPHA:563708", "SUNCT syndrome": "ORPHA:57145", "Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing": "ORPHA:57145", "Furuncular myiasis due to Dermatobia hominis": "ORPHA:563684", "Furunculoid myiasis due to Dermatobia hominis": "ORPHA:563684", "Furunculous myiasis due to Dermatobia hominis": "ORPHA:563684", "Furuncular myiasis due to Cordylobia anthropophaga": "ORPHA:563687", "Furunculoid myiasis due to Cordylobia anthropophaga": "ORPHA:563687", "Furunculous myiasis due to Cordylobia anthropophaga": "ORPHA:563687", "Human prion disease": "ORPHA:56970", "TSE": "ORPHA:56970", "Transmissible spongiform encephalopathy": "ORPHA:56970", "Progressive bulbar paralysis of childhood": "ORPHA:56965", "Fazio-Londe disease": "ORPHA:56965", "Progressive bulbar palsy of childhood": "ORPHA:56965", "Mucinous cystadenoma of childhood": "ORPHA:563671", "Mucinous cystadenoma of ovary in childhood": "ORPHA:563671", "Cold agglutinin disease": "ORPHA:56425", "CAD": "ORPHA:56425", "CAS": "ORPHA:56425", "Chronic cold agglutinin disease": "ORPHA:56425", "Cold agglutinin syndrome": "ORPHA:56425", "Seromucinous cystadenoma of childhood": "ORPHA:563676", "Seromucinous cystadenoma of ovary in childhood": "ORPHA:563676", "Sorsby pseudoinflammatory fundus dystrophy": "ORPHA:59181", "Laing distal myopathy": "ORPHA:59135", "Distal myopathy type 1": "ORPHA:59135", "MPD1": "ORPHA:59135", "OBSOLETE: Microscopic colitis": "ORPHA:58220", "NON RARE IN EUROPE: Pericarditis": "ORPHA:58208", "Osteoblastoma": "ORPHA:58040", "Classic hairy cell leukemia": "ORPHA:58017", "HCL-C": "ORPHA:58017", "Leukemic reticuloendotheliosis": "ORPHA:58017", "Mazabraud syndrome": "ORPHA:57782", "Myxoma with fibrous dysplasia": "ORPHA:57782", "TNP03-related limb-girdle muscular dystrophy D2": "ORPHA:55595", "Autosomal dominant limb-girdle muscular dystrophy type 1F": "ORPHA:55595", "LGMD type 1F": "ORPHA:55595", "LGMD1F": "ORPHA:55595", "Limb-girdle muscular dystrophy type 1F": "ORPHA:55595", "HNRNPDL-related limb-girdle muscular dystrophy D3": "ORPHA:55596", "Autosomal dominant limb-girdle muscular dystrophy type 1G": "ORPHA:55596", "HNRNPDL-related LGMD D3": "ORPHA:55596", "LGMD type 1G": "ORPHA:55596", "LGMD1G": "ORPHA:55596", "Limb-girdle muscular dystrophy type 1G": "ORPHA:55596", "Craniopharyngioma": "ORPHA:54595", "Sarcocystosis": "ORPHA:54368", "Sarcosporidiosis": "ORPHA:54368", "Primary membranoproliferative glomerulonephritis": "ORPHA:54370", "Mesangiocapillary glomerulonephritis": "ORPHA:54370", "Primary MPGN": "ORPHA:54370", "Hepatocellular adenoma": "ORPHA:54272", "Atelosteogenesis type II": "ORPHA:56304", "AO2": "ORPHA:56304", "AOII": "ORPHA:56304", "Atelosteogenesis type 2": "ORPHA:56304", "De la Chapelle dysplasia": "ORPHA:56304", "Neonatal osseous dysplasia type 1": "ORPHA:56304", "Serous cystadenoma of childhood": "ORPHA:563666", "Serous cystadenoma of ovary in childhood": "ORPHA:563666", "Atelosteogenesis type III": "ORPHA:56305", "AO3": "ORPHA:56305", "AOIII": "ORPHA:56305", "Atelosteogenesis type 3": "ORPHA:56305", "Isolated exencephaly": "ORPHA:563612", "Isolated anencephaly": "ORPHA:563609", "Carcinoma of gallbladder and extrahepatic biliary tract": "ORPHA:56044", "Carcinoma of gallbladder and EBT": "ORPHA:56044", "Seronegative autoimmune hepatitis": "ORPHA:563589", "Autoantibody-negative autoimmune hepatitis": "ORPHA:563589", "Seronegative AIH": "ORPHA:563589", "Chondrosarcoma": "ORPHA:55880", "Autoimmune hepatitis type 2": "ORPHA:563581", "AIH type 2": "ORPHA:563581", "Adamantinoma": "ORPHA:55881", "Adamantinoma of long bones": "ORPHA:55881", "Autoimmune hepatitis type 1": "ORPHA:563576", "AIH type 1": "ORPHA:563576", "Hypotrichosis simplex": "ORPHA:55654", "Hereditary hypotrichosis simplex": "ORPHA:55654", "Pneumococcal meningitis": "ORPHA:55655", "Other metabolic disease with skin involvement": "ORPHA:79217", "Oligosaccharidosis": "ORPHA:79215", "Disorder of biogenic amine metabolism and transport": "ORPHA:79214", "Metabolic disease involving other neurotransmitter deficiency": "ORPHA:79219", "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23": "ORPHA:565837", "LGMD type R23": "ORPHA:565837", "Laminin subunit alpha 2-related LGMD R23": "ORPHA:565837", "Laminin subunit alpha 2-related late-onset muscular dystrophy": "ORPHA:565837", "Craniosynostosis-microretrognathia-severe intellectual disability syndrome": "ORPHA:565858", "Disorder of lysosomal amino acid transport": "ORPHA:79207", "Infantile inflammatory bowel disease with neurological involvement": "ORPHA:565788", "Mucopolysaccharidosis": "ORPHA:79213", "Mucolipidosis": "ORPHA:79212", "POMGNT2-related limb-girdle muscular dystrophy R24": "ORPHA:565899", "LGMD type R24": "ORPHA:565899", "Limb-girdle muscular dystrophy type R24": "ORPHA:565899", "POMGNT2-related LGMD R24": "ORPHA:565899", "POMGNT2-related muscular dystrophy": "ORPHA:565899", "OBSOLETE: Combined hyperlipidemia": "ORPHA:79211", "OBSOLETE: Combined hyperlipoproteinemia": "ORPHA:79211", "OBSOLETE: Mixed hyperlipidemia": "ORPHA:79211", "OBSOLETE: Mixed hyperlipoproteinemia": "ORPHA:79211", "Calpain-3-related limb-girdle muscular dystrophy D4": "ORPHA:565909", "LGMD type D4": "ORPHA:565909", "LGMD1I": "ORPHA:565909", "Limb-girdle muscular dystrophy type D4": "ORPHA:565909", "Hypoxanthine guanine phosphoribosyltransferase partial deficiency": "ORPHA:79233", "HPRT deficiency, grade I": "ORPHA:79233", "HPRT partial deficiency": "ORPHA:79233", "HPRT-related gout": "ORPHA:79233", "HPRT-related hyperuricemia": "ORPHA:79233", "HPRT1 partial deficiency": "ORPHA:79233", "Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency": "ORPHA:79233", "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I": "ORPHA:79233", "Kelley-Seegmiller syndrome": "ORPHA:79233", "HJV or HAMP-related hemochromatosis": "ORPHA:79230", "Hemochromatosis type 2": "ORPHA:79230", "Juvenile hemochromatosis": "ORPHA:79230", "Galactokinase deficiency": "ORPHA:79237", "GALK deficiency": "ORPHA:79237", "GALK-D": "ORPHA:79237", "Galactokinase deficiency galactosemia": "ORPHA:79237", "Galactosemia type 2": "ORPHA:79237", "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome": "ORPHA:566067", "CAIN": "ORPHA:566067", "Crigler-Najjar syndrome type 1": "ORPHA:79234", "Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1": "ORPHA:79234", "Bilirubin-UGT deficiency type 1": "ORPHA:79234", "Crigler-Najjar syndrome type 2": "ORPHA:79235", "Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2": "ORPHA:79235", "Bilirubin-UGT deficiency type 2": "ORPHA:79235", "Disorder of purine or pyrimidine metabolism": "ORPHA:79224", "Sphingolipidosis": "ORPHA:79225", "Sterol metabolism disorder": "ORPHA:79226", "Disorder of ketolysis": "ORPHA:79183", "Disorder of ornithine or proline metabolism": "ORPHA:79185", "Disorder of peptide metabolism": "ORPHA:79187", "Disorder of pentose phosphate metabolism": "ORPHA:79186", "Peroxisome biogenesis disorder": "ORPHA:79189", "PBD-ZSD": "ORPHA:79189", "Peroxisome biogenesis disorder spectrum": "ORPHA:79189", "Peroxisome biogenesis disorder-Zellweger spectrum disorder": "ORPHA:79189", "Peroxisomal beta-oxidation disorder": "ORPHA:79188", "Disorder of gamma-aminobutyric acid metabolism": "ORPHA:79175", "Disorder of GABA metabolism": "ORPHA:79175", "Disorder of fatty acid oxidation and ketone body metabolism": "ORPHA:79174", "Gluconeogenesis disorder": "ORPHA:79177", "Disorder of glycerol metabolism": "ORPHA:79179", "Glucose transport disorder": "ORPHA:79178", "Disorder of histidine metabolism": "ORPHA:79181", "Disorder of energy metabolism": "ORPHA:79200", "Combined oxidative phosphorylation defect type 39": "ORPHA:565624", "COXPD39": "ORPHA:565624", "GFM2-related combined oxidative phosphorylation defect": "ORPHA:565624", "Primary triglyceride deposit cardiomyovasculopathy": "ORPHA:565612", "Neutral lipid storage disease with severe cardiovascular involvement": "ORPHA:565612", "TGCV": "ORPHA:565612", "Glycogen storage disease": "ORPHA:79201", "GSD": "ORPHA:79201", "Glycogenosis": "ORPHA:79201", "Rare disorder potentially indicated for transplant or complication after transplantation": "ORPHA:565779", "Primary desmosis coli": "ORPHA:565641", "Aplastic desmosis coli": "ORPHA:565641", "Lipid storage disease": "ORPHA:79204", "Methotrexate toxicity": "ORPHA:565782", "Disorder of phenylalanin or tyrosine metabolism": "ORPHA:79190", "Disorder of purine metabolism": "ORPHA:79191", "Disorder of pyridoxine metabolism": "ORPHA:79192", "Disorder of pyrimidine metabolism": "ORPHA:79193", "Disorder of serine or glycine metabolism": "ORPHA:79194", "Sterol biosynthesis disorder": "ORPHA:79195", "Disorder of the gamma-glutamyl cycle": "ORPHA:79196", "Disorder of branched-chain amino acid metabolism": "ORPHA:79197", "2-methylbutyryl-CoA dehydrogenase deficiency": "ORPHA:79157", "2-methylbutyric aciduria": "ORPHA:79157", "Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency": "ORPHA:79157", "SBCAD deficiency": "ORPHA:79157", "Short/branched-chain acyl-coA dehydrogenase deficiency": "ORPHA:79157", "Seizures-intellectual disability due to hydroxylysinuria syndrome": "ORPHA:79156", "Hydroxykynureninuria": "ORPHA:79155", "Kynureninase deficiency": "ORPHA:79155", "Xanthurenic aciduria": "ORPHA:79155", "2-aminoadipic 2-oxoadipic aciduria": "ORPHA:79154", "Alpha-aminoadipic aciduria": "ORPHA:79154", "Idiopathic trachyonychia": "ORPHA:79153", "Disseminated superficial actinic porokeratosis": "ORPHA:79152", "Acrokeratosis verruciformis of Hopf": "ORPHA:79151", "AKV of Hopf": "ORPHA:79151", "Linear and whorled nevoid hypermelanosis": "ORPHA:79150", "LWNH": "ORPHA:79150", "Dermochondrocorneal dystrophy": "ORPHA:79149", "Fran\u00e7ois syndrome": "ORPHA:79149", "Elastosis perforans serpiginosa": "ORPHA:79148", "Familial reactive perforating collagenosis": "ORPHA:79147", "Familial progressive hyperpigmentation": "ORPHA:79146", "Melanosis diffusa congenita": "ORPHA:79146", "Melanosis universalis hereditaria": "ORPHA:79146", "Universal melanosis": "ORPHA:79146", "Dowling-Degos disease": "ORPHA:79145", "Reticular pigment anomaly of flexures": "ORPHA:79145", "Isolated congenital onychodysplasia": "ORPHA:79144", "COIF": "ORPHA:79144", "COIF syndrome": "ORPHA:79144", "Congenital onychodysplasia of the index fingers": "ORPHA:79144", "Iso-Kikuchi syndrome": "ORPHA:79144", "Isolated congenital anonychia": "ORPHA:79143", "Isolated anonychia": "ORPHA:79143", "NON RARE IN EUROPE: Familial Dupuytren contracture": "ORPHA:79142", "Creatine deficiency syndrome": "ORPHA:79172", "CCDS": "ORPHA:79172", "CDS": "ORPHA:98907", "Cerebral creatine deficiency syndrome": "ORPHA:79172", "Disorder of methionine cycle and sulfur amino acid metabolism": "ORPHA:79173", "Cytosolic methyl group transfer or sulfur amino acid metabolism disorder": "ORPHA:79173", "Disorder of cobalamin metabolism and transport": "ORPHA:79171", "Disorder of bile acid synthesis": "ORPHA:79168", "Disorder of neurotransmitter metabolism and transport": "ORPHA:79169", "Disorder of amino acid absorption and transport": "ORPHA:79166", "Disorder of urea cycle metabolism and ammonia detoxification": "ORPHA:79167", "Classic organic aciduria": "ORPHA:79163", "Disorder of carbohydrate metabolism": "ORPHA:79161", "Cerebral organic aciduria": "ORPHA:79158", "Isobutyryl-CoA dehydrogenase deficiency": "ORPHA:79159", "Isobutyric aciduria": "ORPHA:79159", "Developmental malformations-deafness-dystonia syndrome": "ORPHA:79107", "Developmental malformations-hearing loss-dystonia syndrome": "ORPHA:79107", "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha": "ORPHA:566231", "RTHa": "ORPHA:566231", "Resistance to thyroid hormone alpha": "ORPHA:566231", "Resistance to thyroid hormone due to a mutation in TRa": "ORPHA:566231", "Eiken syndrome": "ORPHA:79106", "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta": "ORPHA:566243", "RTHb": "ORPHA:566243", "Resistance to thyroid hormone beta": "ORPHA:566243", "Resistance to thyroid hormone due to a mutation in TRb": "ORPHA:566243", "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome": "ORPHA:79118", "Acute mast cell leukemia": "ORPHA:566393", "Acute MCL": "ORPHA:566393", "Mandibulofacial dysostosis-microcephaly syndrome": "ORPHA:79113", "MFDM syndrome": "ORPHA:79113", "Mandibulofacial dysostosis, Guion-Almeida type": "ORPHA:79113", "Thyrotoxic periodic paralysis": "ORPHA:79102", "Thyrotoxic hypokalemic periodic paralysis": "ORPHA:79102", "Myxofibrosarcoma": "ORPHA:79105", "Fibromyxosarcoma": "ORPHA:79105", "Myxoid malignant fibrous histiocytoma": "ORPHA:79105", "Interstitial granulomatous dermatitis with arthritis": "ORPHA:79099", "Ackerman dermatitis syndrome": "ORPHA:79099", "Ackerman syndrome": "ORPHA:79099", "IGDA": "ORPHA:79099", "Sympathetic ophthalmia": "ORPHA:79098", "Sympathetic uveitis": "ORPHA:79098", "Hyperprolinemia type 2": "ORPHA:79101", "Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency": "ORPHA:79101", "Congenital autosomal recessive small-platelet thrombocytopenia": "ORPHA:566192", "CARST": "ORPHA:566192", "Atrophoderma vermiculata": "ORPHA:79100", "Folliculitis ulerythematosa reticulate": "ORPHA:79100", "Congenital bile acid synthesis defect type 4": "ORPHA:79095", "2-methylacyl-CoA racemase deficiency": "ORPHA:79095", "AMACR deficiency": "ORPHA:79095", "Alpha-methyl-acyl-CoA racemase deficiency": "ORPHA:79095", "BASD4": "ORPHA:79095", "Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome": "ORPHA:79095", "Grange syndrome": "ORPHA:79094", "Grange occlusive arterial syndrome": "ORPHA:79094", "Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome": "ORPHA:79094", "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome": "ORPHA:566175", "CD55 deficiency": "ORPHA:566175", "CHAPLE syndrome": "ORPHA:566175", "Folinic acid-responsive seizures": "ORPHA:79097", "Pyridoxal phosphate-responsive seizures": "ORPHA:79096", "PNPO deficiency": "ORPHA:79096", "PNPO-related neonatal epileptic encephalopathy": "ORPHA:79096", "Pyridoxal phosphate-dependent seizures": "ORPHA:79096", "Pyridoxamine 5'-oxidase deficiency": "ORPHA:79096", "Pyridoxamine 5'-phosphate oxidase deficiency": "ORPHA:79096", "Bickerstaff brainstem encephalitis": "ORPHA:79138", "Japanese encephalitis": "ORPHA:79139", "Cutaneous neuroendocrine carcinoma": "ORPHA:79140", "MCC": "ORPHA:79140", "Merkel cell carcinoma": "ORPHA:79140", "Hereditary painful callosities": "ORPHA:79141", "Keratosis palmoplantaris nummularis": "ORPHA:79141", "PPK nummularis": "ORPHA:79141", "Plamoplantar hyperkeratosis nummularis": "ORPHA:79141", "Plamoplantar keratoderma nummularis": "ORPHA:79141", "DEND syndrome": "ORPHA:79134", "Developmental delay-epilepsy-neonatal diabetes syndrome": "ORPHA:79134", "Episodic ataxia type 3": "ORPHA:79135", "Episodic ataxia-vertigo-tinnitus-myokymia syndrome": "ORPHA:79135", "Episodic ataxia type 4": "ORPHA:79136", "PATX": "ORPHA:79136", "Periodic vestibulocerebellar ataxia": "ORPHA:79136", "Generalized epilepsy-paroxysmal dyskinesia syndrome": "ORPHA:79137", "GEPD": "ORPHA:79137", "Trichodysplasia-amelogenesis imperfecta syndrome": "ORPHA:79129", "OBSOLETE: Sparse hair-short stature-skin anomalies syndrome": "ORPHA:79132", "Focal facial dermal dysplasia type I": "ORPHA:79133", "Bitemporal aplasia cutis congenita": "ORPHA:79133", "Brauer syndrome": "ORPHA:79133", "FFDD type I": "ORPHA:79133", "FFDD1": "ORPHA:79133", "Focal facial dermal dysplasia 1, Brauer type": "ORPHA:79133", "Focal facial dermal dysplasia type 1": "ORPHA:79133", "Hepatic veno-occlusive disease-immunodeficiency syndrome": "ORPHA:79124", "VODI syndrome": "ORPHA:79124", "Chronic mast cell leukemia": "ORPHA:566396", "Chronic MCL": "ORPHA:566396", "Acute interstitial pneumonia": "ORPHA:79126", "Acute interstitial pneumonitis": "ORPHA:79126", "Hamman-Rich syndrome": "ORPHA:79126", "Respiratory bronchiolitis-interstitial lung disease syndrome": "ORPHA:79127", "RB-ILD": "ORPHA:79127", "Lymphoid interstitial pneumonia": "ORPHA:79128", "Lymphocytic interstitial pneumonia": "ORPHA:79128", "Chronic visceral acid sphingomyelinase deficiency": "ORPHA:77293", "Chronic visceral ASMD": "ORPHA:77293", "NPD-B": "ORPHA:77293", "Niemann-Pick disease type B": "ORPHA:77293", "Odontoleukodystrophy": "ORPHA:77295", "Dentoleukoencephalopathy": "ORPHA:77295", "Leukodystrophy with oligodontia": "ORPHA:77295", "Gaucher disease type 3": "ORPHA:77261", "Cerebral juvenile and adult form of Gaucher disease": "ORPHA:77261", "Chronic neuronopathic Gaucher disease": "ORPHA:77261", "Gaucher disease, subacute neuronopathic type": "ORPHA:77261", "Infantile neurovisceral acid sphingomyelinase deficiency": "ORPHA:77292", "Infantile neurovisceral ASMD": "ORPHA:77292", "NPD-A": "ORPHA:77292", "Niemann-Pick disease type A": "ORPHA:77292", "Anophthalmia/microphthalmia-esophageal atresia syndrome": "ORPHA:77298", "MCOPS3": "ORPHA:77298", "Syndromic microphthalmia type 3": "ORPHA:77298", "Microphthalmia-brain atrophy syndrome": "ORPHA:77299", "MCOPS10": "ORPHA:77299", "MOBA syndrome": "ORPHA:77299", "Syndromic microphthalmia type 10": "ORPHA:77299", "Morgagni-Stewart-Morel syndrome": "ORPHA:77296", "Hyperostosis frontalis interna": "ORPHA:77296", "Majeed syndrome": "ORPHA:77297", "Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome": "ORPHA:77297", "Oculo-oto-facial dysplasia": "ORPHA:77302", "OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect": "ORPHA:77303", "OBSOLETE: CVID due to an intrinsic B cell defect": "ORPHA:77303", "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome": "ORPHA:567502", "BILU syndrome": "ORPHA:567502", "Hoffman syndrome": "ORPHA:567502", "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome": "ORPHA:77300", "Monosomy 9q22.3 syndrome": "ORPHA:77301", "Microdeletion 9q22.3": "ORPHA:77301", "Idiopathic multidrug-resistant nephrotic syndrome": "ORPHA:567550", "Genetic obesity": "ORPHA:77828", "Idiopathic steroid-resistant nephrotic syndrome": "ORPHA:567548", "Idiopathic SRNS": "ORPHA:567548", "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance": "ORPHA:567546", "Idiopathic SSNS with secondary steroid resistance": "ORPHA:567546", "Secondary SRNS": "ORPHA:567546", "Secondary steroid-resistant nephrotic syndrome": "ORPHA:567546", "OBSOLETE: Not NOTCH3-related small vessel disease of the brain": "ORPHA:77304", "Idiopathic non-lupus full-house nephropathy": "ORPHA:567544", "Idiopathic non-lupus FHN": "ORPHA:567544", "Genetic systemic disease with glomerulopathy as a major feature": "ORPHA:567556", "Simpson-Golabi-Behmel syndrome type 2": "ORPHA:79022", "Lethal variant of Simpson-Golabi-Behmel syndrome": "ORPHA:79022", "SGBS2": "ORPHA:79022", "Non-genetic systemic disease with glomerulopathy as a major feature": "ORPHA:567558", "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy": "ORPHA:567552", "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression": "ORPHA:567552", "Systemic disease with glomerulopathy as a major feature": "ORPHA:567554", "Rare genetic odontologic disease": "ORPHA:77830", "Nephrotic syndrome without extrarenal manifestations": "ORPHA:567564", "PPARG-related familial partial lipodystrophy": "ORPHA:79083", "FPLD3": "ORPHA:79083", "Familial partial lipodystrophy type 3": "ORPHA:79083", "PPARG-related FPLD": "ORPHA:79083", "IgG4-related dacryoadenitis and sialadenitis": "ORPHA:79078", "Chronic dacryoadenitis and sialadenitis": "ORPHA:79078", "Mikulicz disease": "ORPHA:79078", "Systemic vasculitis associated with glomerulopathy": "ORPHA:567560", "Juvenile polyposis of infancy": "ORPHA:79076", "Infantile juvenile polyposis syndrome": "ORPHA:79076", "Disorder with multisystemic involvement and glomerulopathy": "ORPHA:567562", "Disorder of amino acid and other organic acid metabolism": "ORPHA:79062", "Acquired partial lipodystrophy": "ORPHA:79087", "Barraquer-Simons syndrome": "ORPHA:79087", "Progressive cephalothoracic lipodystrophy": "ORPHA:79087", "Acquired generalized lipodystrophy": "ORPHA:79086", "Acquired lipoatrophic diabetes": "ORPHA:79086", "Lawrence syndrome": "ORPHA:79086", "Lawrence-Seip syndrome": "ORPHA:79086", "AKT2-related familial partial lipodystrophy": "ORPHA:79085", "AKT2-related FPLD": "ORPHA:79085", "Familial partial lipodystrophy, K\u00f6bberling type": "ORPHA:79084", "FPLD1": "ORPHA:79084", "Familial partial lipodystrophy type 1": "ORPHA:79084", "Parenteral nutrition-associated cholestasis": "ORPHA:567983", "PNAC": "ORPHA:567983", "Foix-Alajouanine syndrome": "ORPHA:79093", "Angiodysgenetic necrotizing myelopathy": "ORPHA:79093", "Familial osteosclerosis with abnormalities of the nervous system and meninges": "ORPHA:79093", "Subacute angiohypertrophic myelomalacia": "ORPHA:79093", "Subacute ascending necrotizing myelitis": "ORPHA:79093", "Subacute necrotizing myelitis": "ORPHA:79093", "Primary lymphedema without systemic or visceral involvement": "ORPHA:568041", "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome": "ORPHA:79091", "HIBM3": "ORPHA:79091", "Hereditary inclusion body myopathy type 3": "ORPHA:79091", "IBM3": "ORPHA:79091", "Inclusion body myopathy type 3": "ORPHA:79091", "Localized lipodystrophy": "ORPHA:79088", "North Carolina macular dystrophy": "ORPHA:75327", "CAPE dystrophy": "ORPHA:75327", "CAPED": "ORPHA:75327", "Central areolar pigment epithelial dystrophy": "ORPHA:75327", "Central retinal pigment epithelial dystrophy": "ORPHA:75327", "MCDR1": "ORPHA:75327", "NCMD": "ORPHA:75327", "North Carolina macular dystrophy, retinal 1": "ORPHA:75327", "Progressive foveal dystrophy": "ORPHA:75327", "Progressive bifocal chorioretinal atrophy": "ORPHA:75373", "CRAPB": "ORPHA:75373", "PBCRA": "ORPHA:75373", "Bradyopsia": "ORPHA:75374", "PERRS": "ORPHA:75374", "Prolonged electroretinal response suppression": "ORPHA:75374", "Familial drusen": "ORPHA:75376", "DHRD": "ORPHA:75376", "Dominant drusen": "ORPHA:75376", "Dominant radial drusen": "ORPHA:75376", "Doyne honeycomb retinal dystrophy": "ORPHA:75376", "Malattia leventinese": "ORPHA:75376", "Central areolar choroidal dystrophy": "ORPHA:75377", "Areolar atrophy of the macula": "ORPHA:75377", "CACD": "ORPHA:75377", "Central areolar choroidal sclerosis": "ORPHA:75377", "Oligocone trichromacy": "ORPHA:75378", "Oligocone syndrome": "ORPHA:75378", "Cystoid macular dystrophy": "ORPHA:75381", "Autosomal dominant cystoid macular edema": "ORPHA:75381", "DCMD": "ORPHA:75381", "Familial macular edema": "ORPHA:75381", "Oguchi disease": "ORPHA:75382", "Congenital stationary night blindness, Oguchi type": "ORPHA:75382", "Oguchi syndrome": "ORPHA:75382", "Aprosencephaly/atelencephaly spectrum": "ORPHA:566847", "AP/AT spectum": "ORPHA:566847", "Brain malformation-congenital heart disease-postaxial polydactyly syndrome": "ORPHA:75389", "Goossens-Devriendt syndrome": "ORPHA:75389", "Liver adenomatosis": "ORPHA:566841", "Hepatic adenomatosis": "ORPHA:566841", "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency": "ORPHA:75391", "Primary immunodeficiency due to MCM4 deficiency": "ORPHA:75391", "Aprosencephaly": "ORPHA:566857", "Periodontal Ehlers-Danlos syndrome": "ORPHA:75392", "EDS VIII": "ORPHA:75392", "Ehlers-Danlos syndrome type 8": "ORPHA:75392", "Ehlers-Danlos syndrome, periodontitis type": "ORPHA:75392", "Periodontal EDS": "ORPHA:75392", "pEDS": "ORPHA:75392", "Atelencephaly": "ORPHA:566852", "Atelencephalic microcephaly": "ORPHA:566852", "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome": "ORPHA:75496", "B4GALT7-related spondylodysplastic EDS": "ORPHA:75496", "EDS progeroid type 1": "ORPHA:75496", "EDS with short stature and limb anomalies": "ORPHA:75496", "spEDS-B4GALT7": "ORPHA:75496", "X-linked Ehlers-Danlos syndrome": "ORPHA:75497", "EDS V": "ORPHA:75497", "Ehlers-Danlos syndrome type 5": "ORPHA:75497", "X-linked EDS": "ORPHA:75497", "Left sided atrial isomerism": "ORPHA:566862", "Isomerism of left atrial appendage": "ORPHA:566862", "LAI": "ORPHA:566862", "OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type": "ORPHA:75501", "OBSOLETE: EDS X": "ORPHA:75501", "OBSOLETE: Ehlers-Danlos syndrome type 10": "ORPHA:75501", "OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality": "ORPHA:75501", "OBSOLETE: Ehlers-Danlos syndrome, fibronectin-deficient": "ORPHA:75501", "Angioosteohypotrophic syndrome": "ORPHA:75508", "Phlebectatic osteohypoplastic angiodysplasia": "ORPHA:75508", "Servelle-Martorell syndrome": "ORPHA:75508", "X-linked sideroblastic anemia": "ORPHA:75563", "XLSA": "ORPHA:75563", "Mueller-Weiss syndrome": "ORPHA:566943", "Brailsford disease": "ORPHA:566943", "Mueller-Weiss osteonecrosis of the tarsal bone": "ORPHA:566943", "Tropical endomyocardial fibrosis": "ORPHA:75565", "Davies disease": "ORPHA:75565", "TEMF": "ORPHA:75565", "Acquired idiopathic sideroblastic anemia": "ORPHA:75564", "AISA": "ORPHA:75564", "Primary acquired sideroblastic anemia": "ORPHA:75564", "RARS": "ORPHA:75564", "Refractory anemia with ringed sideroblasts": "ORPHA:75564", "Primary progressive freezing gait": "ORPHA:75567", "PPFG": "ORPHA:75567", "Loeffler endocarditis": "ORPHA:75566", "Eosinophilic endocarditis": "ORPHA:75566", "Pollitt syndrome": "ORPHA:75790", "Trichorrhexis nodosa syndrome": "ORPHA:75790", "Trichothiodystrophy type C": "ORPHA:75790", "Trichothiodystrophy-neurocutaneous syndrome syndrome": "ORPHA:75790", "SIBIDS syndrome": "ORPHA:75789", "Trichothiodystrophy-osteosclerosis syndrome": "ORPHA:75789", "6q terminal deletion syndrome": "ORPHA:75857", "Ullrich congenital muscular dystrophy": "ORPHA:75840", "UCMD": "ORPHA:75840", "Ullrich scleroatonic muscular dystrophy": "ORPHA:75840", "Primary lymphedema": "ORPHA:77240", "MORM syndrome": "ORPHA:75858", "Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome": "ORPHA:75858", "OBSOLETE: Lymphedema tarda": "ORPHA:77242", "OBSOLETE: Lymphedema praecox": "ORPHA:77241", "Trichorhinophalangeal syndrome type 1": "ORPHA:77258", "NON RARE IN EUROPE: Lipedema": "ORPHA:77243", "Gaucher disease type 2": "ORPHA:77260", "Acute neuronopathic Gaucher disease": "ORPHA:77260", "Infantile cerebral Gaucher disease": "ORPHA:77260", "Gaucher disease type 1": "ORPHA:77259", "Non-cerebral juvenile Gaucher disease": "ORPHA:77259", "Bleeding diathesis due to a collagen receptor defect": "ORPHA:73271", "Zygomycosis": "ORPHA:73263", "Mucormycosis": "ORPHA:73263", "Non-24-hour sleep-wake syndrome": "ORPHA:73267", "Hypernychthemeral syndrome": "ORPHA:73267", "Central neurocytoma": "ORPHA:73256", "Paracoccidioidomycosis": "ORPHA:73260", "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome": "ORPHA:73246", "NON RARE IN EUROPE: Eosinophilic esophagitis": "ORPHA:73247", "NON RARE IN EUROPE: EoE": "ORPHA:73247", "Congenital primary lymphedema of Gordon": "ORPHA:569821", "VEGFC-related congenital primary lymphedema": "ORPHA:569821", "Acute ackee fruit intoxication": "ORPHA:73423", "Acute intoxication by Blighia sapida": "ORPHA:73423", "Jamaican vomiting sickness": "ORPHA:73423", "Jamaican vomiting syndrome": "ORPHA:73423", "CELSR1-related late-onset primary lymphedema": "ORPHA:569816", "OBSOLETE: Acquired hemophilia": "ORPHA:73274", "Growth delay due to insulin-like growth factor type 1 deficiency": "ORPHA:73272", "Growth delay-deafness-intellectual disability syndrome": "ORPHA:73272", "Growth delay-hearing loss-intellectual disability syndrome": "ORPHA:73272", "IGF-1 deficiency": "ORPHA:73272", "Primary insulin-like growth factor deficiency": "ORPHA:73272", "Growth delay due to insulin-like growth factor I resistance": "ORPHA:73273", "Resistance to IGF-1": "ORPHA:73273", "Familial isolated retinal arteriolar tortuosity": "ORPHA:75326", "Familial retinal arteriolar tortuosity": "ORPHA:75326", "Retinal arteriolar tortuosity": "ORPHA:75326", "Retinal hemorrhage with vascular tortuosity": "ORPHA:75326", "Tortuosity of retinal arteries": "ORPHA:75326", "Osteosclerosis-ichthyosis-premature ovarian failure syndrome": "ORPHA:75325", "Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome": "ORPHA:75325", "Familial isolated restrictive cardiomyopathy": "ORPHA:75249", "Familial or idiopathic restrictive cardiomyopathy": "ORPHA:75249", "Cholesteryl ester storage disease": "ORPHA:75234", "Cholesterol ester storage disease": "ORPHA:75234", "Wolman disease": "ORPHA:75233", "Myiasis": "ORPHA:75110", "EPHB4-related lymphatic-related hydrops fetalis": "ORPHA:568065", "EPHB4-related LRHF/GLD": "ORPHA:568065", "EPHB4-related generalized lymphatic dysplasia with atrial septal defect": "ORPHA:568065", "EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis": "ORPHA:568065", "Familial platelet disorder with associated myeloid malignancy": "ORPHA:71290", "FPD/AML": "ORPHA:71290", "FPDMM": "ORPHA:71290", "FPS/AML": "ORPHA:71290", "Familial platelet disorder with predisposition to acute myelogenous leukemia": "ORPHA:71290", "Familial platelet disorder with predisposition to myeloid malignancy": "ORPHA:71290", "Familial platelet disorder with propensity to acute myeloid leukemia": "ORPHA:71290", "Familial thrombocytopenia with propensity to acute myelogenous leukemia": "ORPHA:71290", "RUNX1 familial platelet disorder": "ORPHA:71290", "RUNX1 familial platelet disorder with associated myeloid malignancies": "ORPHA:71290", "RUNX1-FPD": "ORPHA:71290", "RUNX1-FPDMM": "ORPHA:71290", "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis": "ORPHA:568062", "Generalized lymphatic dysplasia of Fotiou": "ORPHA:568062", "PIEZO1-related LRHF/GLD": "ORPHA:568062", "PIEZO1-related generalized lymphatic dysplasia with systemic involvement": "ORPHA:568062", "PIEZO1-related lymphatic-related hydrops fetalis": "ORPHA:568062", "Hereditary vascular retinopathy": "ORPHA:71291", "HVR": "ORPHA:71291", "Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome": "ORPHA:71291", "Familial thrombocytosis": "ORPHA:71493", "Familial thrombocythemia": "ORPHA:71493", "Hereditary thrombocythemia": "ORPHA:71493", "Cancer-associated retinopathy": "ORPHA:71505", "CAR syndrome": "ORPHA:71505", "Paraneoplastic retinopathy": "ORPHA:71505", "Disorder with multisystemic involvement and primary lymphedema": "ORPHA:568047", "Primary lymphedema with systemic or visceral involvement": "ORPHA:568044", "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome": "ORPHA:568056", "Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome": "ORPHA:568056", "WILD syndrome": "ORPHA:568056", "GJC2-related late-onset primary lymphedema": "ORPHA:568051", "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome": "ORPHA:71289", "ATRUS syndrome": "ORPHA:71289", "Obesity due to pro-opiomelanocortin deficiency": "ORPHA:71526", "POMC deficiency": "ORPHA:71526", "Obesity due to prohormone convertase I deficiency": "ORPHA:71528", "PCI deficiency": "ORPHA:71528", "Obesity due to melanocortin 4 receptor deficiency": "ORPHA:71529", "MC4R deficiency": "ORPHA:71529", "Angiomatoid fibrous histiocytoma": "ORPHA:569164", "AFH": "ORPHA:569164", "OBSOLETE: Mixed dystonia": "ORPHA:71516", "Rapid-onset dystonia-parkinsonism": "ORPHA:71517", "DYT12": "ORPHA:71517", "Dystonia 12": "ORPHA:71517", "Benign paroxysmal torticollis of infancy": "ORPHA:71518", "Psychogenic movement disorders": "ORPHA:71519", "Psychogenic dystonia": "ORPHA:71519", "Multiple mitochondrial dysfunctions syndrome type 5": "ORPHA:569274", "ISCA1 deficiency": "ORPHA:569274", "MMDS5": "ORPHA:569274", "Inherited retinal disorder": "ORPHA:71862", "Retinal dystrophy": "ORPHA:71862", "Multiple mitochondrial dysfunctions syndrome type 6": "ORPHA:569290", "PMPCB deficiency": "ORPHA:569290", "Muscular channelopathy": "ORPHA:71864", "Rare genetic neurological disorder": "ORPHA:71859", "Microcystic stromal tumor": "ORPHA:569248", "MCST": "ORPHA:569248", "HANAC syndrome": "ORPHA:73229", "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome": "ORPHA:73229", "Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome": "ORPHA:73229", "Kidney tubulopathy-dilated cardiomyopathy syndrome": "ORPHA:73224", "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome": "ORPHA:73245", "Ossification anomalies-psychomotor developmental delay syndrome": "ORPHA:73230", "M\u00fcllerian aplasia": "ORPHA:73217", "Aplasia of the M\u00fcllerian ducts": "ORPHA:73217", "M\u00fcllerian duct failure": "ORPHA:73217", "Intractable diarrhea of infancy": "ORPHA:73014", "IDI": "ORPHA:73014", "Global developmental delay-osteopenia-ectodermal defect syndrome": "ORPHA:73223", "X-linked intellectual disability-hypotonic face syndrome": "ORPHA:73220", "Acitretin/etretinate embryopathy": "ORPHA:40366", "Fetal acitretin/etretinate syndrome": "ORPHA:40366", "Retinoid embryopathy": "ORPHA:40366", "Eales disease": "ORPHA:40923", "Idiopathic retinal perivasculitis": "ORPHA:40923", "Idiopathic retinal vasculitis": "ORPHA:40923", "Graft versus host disease": "ORPHA:39812", "GvHD": "ORPHA:39812", "NON RARE IN EUROPE: Psoriatic arthritis": "ORPHA:40050", "Familial apolipoprotein A5 deficiency": "ORPHA:530849", "Familial APOA5 deficiency": "ORPHA:530849", "Familial apolipoprotein A-V deficiency": "ORPHA:530849", "Omenn syndrome": "ORPHA:39041", "Combined immunodeficiency with hypereosinophilia": "ORPHA:39041", "KRT1-related diffuse nonepidermolytic keratoderma": "ORPHA:530838", "KRT1-related diffuse NEPPK": "ORPHA:530838", "Uveal melanoma": "ORPHA:39044", "Choroid melanoma": "ORPHA:39044", "Choroidal and ciliary body melanomas": "ORPHA:39044", "Melanoma of choroid": "ORPHA:39044", "Melanoma of uvea": "ORPHA:39044", "RELA fusion-positive ependymoma": "ORPHA:530792", "Supratentorial C11ORF95-RELA fused ependymoma": "ORPHA:530792", "Dihydropyrimidinuria": "ORPHA:38874", "Dihydropyrimidinase deficiency": "ORPHA:38874", "Schnitzler syndrome": "ORPHA:37748", "Chronic urticaria with gammopathy": "ORPHA:37748", "Chronic urticaria with macroglobulinemia": "ORPHA:37748", "PIK3CA-related overgrowth syndrome": "ORPHA:530313", "PROS": "ORPHA:530313", "Progressive dementia with neuroserpin inclusion bodies": "ORPHA:530303", "Late-onset familial encephalopathy with neuroserpin inclusion bodies": "ORPHA:530303", "Neonatal neutropenia": "ORPHA:37629", "Episodic ataxia type 1": "ORPHA:37612", "Episodic ataxia with myokymia": "ORPHA:37612", "Acquired kinky hair syndrome": "ORPHA:37559", "Progressive myoclonic epilepsy with neuroserpin inclusion bodies": "ORPHA:530298", "Early onset familial encephalopathy with neuroserpin inclusion bodies": "ORPHA:530298", "Andersen-Tawil syndrome": "ORPHA:37553", "Andersen syndrome": "ORPHA:37553", "LQT7": "ORPHA:37553", "Long QT syndrome type 7": "ORPHA:37553", "Interstitial cystitis": "ORPHA:37202", "Bladder pain syndrome": "ORPHA:37202", "IC/BPS": "ORPHA:37202", "IC/PBS": "ORPHA:37202", "Interstitial cystitis/bladder pain syndrome": "ORPHA:37202", "Interstitial cystitis/painful bladder syndrome": "ORPHA:37202", "Painful bladder syndrome": "ORPHA:37202", "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome": "ORPHA:37042", "Autoimmune enteropathy type 1": "ORPHA:37042", "IPEX": "ORPHA:37042", "Autoimmune hypoparathyroidism": "ORPHA:36913", "Myoclonus-dystonia syndrome": "ORPHA:36899", "Alcohol-responsive dystonia": "ORPHA:36899", "Hereditary essential myoclonus": "ORPHA:36899", "Myoclonic dystonia": "ORPHA:36899", "Rare sleep disorder": "ORPHA:68354", "Leukodystrophy": "ORPHA:68356", "Rare genetic skin disease": "ORPHA:68346", "Rare genodermatosis": "ORPHA:68346", "Tumor of hematopoietic and lymphoid tissues": "ORPHA:68347", "Multiple congenital anomalies/dysmorphic syndrome": "ORPHA:68341", "Rare hemorrhagic disorder due to a constitutional coagulation factors defect": "ORPHA:68334", "Rare bleeding disorder due to a constitutional coagulation factors defect": "ORPHA:68334", "Rare coagulopathy due to a constitutional coagulation factors defect": "ORPHA:68334", "Rare genetic tumor": "ORPHA:68336", "9q21.13 microdeletion syndrome": "ORPHA:531151", "Rare chromosomal anomaly": "ORPHA:68335", "Rare maxillo-facial surgical disease": "ORPHA:68329", "Rare maxillofacial anomaly": "ORPHA:68329", "Lamb-Shaffer syndrome": "ORPHA:530983", "SOX5 haploinsufficiency syndrome": "ORPHA:530983", "Mixed phenotype acute leukemia": "ORPHA:530995", "MPAL": "ORPHA:530995", "NON RARE IN EUROPE: Fibromyalgia": "ORPHA:41842", "Bietti crystalline dystrophy": "ORPHA:41751", "BCD": "ORPHA:41751", "Bietti crystalline corneoretinal dystrophy": "ORPHA:41751", "Bietti crystalline retinopathy": "ORPHA:41751", "Iminoglycinuria": "ORPHA:42062", "Neurometabolic disorder due to serine deficiency": "ORPHA:35705", "Serine deficiency": "ORPHA:35705", "Glutaric acidemia type 3": "ORPHA:35706", "Glutaric aciduria type 3": "ORPHA:35706", "Glutaryl-CoA oxidase deficiency": "ORPHA:35706", "L-Arginine:glycine amidinotransferase deficiency": "ORPHA:35704", "AGAT deficiency": "ORPHA:35704", "Glucose-galactose malabsorption": "ORPHA:35710", "SGLT1 deficiency": "ORPHA:35710", "Morning glory disc anomaly": "ORPHA:35737", "Ectasic coloboma": "ORPHA:35737", "Morning glory syndrome": "ORPHA:35737", "Aromatic L-amino acid decarboxylase deficiency": "ORPHA:35708", "AADC deficiency": "ORPHA:35708", "Mitochondrial disorder due to a defect in mitochondrial protein synthesis": "ORPHA:35696", "COXPD": "ORPHA:35696", "Combined OXPHOS defect": "ORPHA:35696", "Combined OXPHOS deficiency": "ORPHA:35696", "Combined oxidative phosphorylation defect": "ORPHA:35696", "OBSOLETE: Madelung deformity": "ORPHA:35688", "Primary lateral sclerosis": "ORPHA:35689", "Adult-onset PLS": "ORPHA:35689", "Adult-onset primary lateral sclerosis": "ORPHA:35689", "3-hydroxy-3-methylglutaryl-CoA synthase deficiency": "ORPHA:35701", "HMG-CoA synthase deficiency": "ORPHA:35701", "Mitochondrial DNA depletion syndrome": "ORPHA:35698", "mtDNA depletion syndrome": "ORPHA:35698", "Nanophthalmos": "ORPHA:35612", "Nanophthalmia": "ORPHA:35612", "X-linked dominant chondrodysplasia punctata": "ORPHA:35173", "CDPX2": "ORPHA:35173", "CDPXD": "ORPHA:35173", "CPXD": "ORPHA:35173", "Chondrodystrophia calcificans congenita": "ORPHA:35173", "Conradi-H\u00fcnermann-Happle syndrome": "ORPHA:35173", "X-linked chondrodysplasia punctata type 2": "ORPHA:35173", "Erdheim-Chester disease": "ORPHA:35687", "Serpiginous choroiditis": "ORPHA:35686", "Geographic helicoid peripapillary choroidopathy": "ORPHA:35686", "ALDH18A1-related De Barsy syndrome": "ORPHA:35664", "Delta-1-pyrroline 5-carboxylate synthetase deficiency": "ORPHA:35664", "Neurocutaneous syndrome, Bicknell type": "ORPHA:35664", "P5CS deficiency": "ORPHA:35664", "Coenzyme Q10 deficiency": "ORPHA:35656", "CoQ10 deficiency": "ORPHA:35656", "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency": "ORPHA:35120", "P5N deficiency": "ORPHA:35120", "UMPH1 deficiency": "ORPHA:35120", "Uridine 5'-monophosphate hydrolase deficiency": "ORPHA:35120", "Desmosterolosis": "ORPHA:35107", "Non-syndromic bicoronal craniosynostosis": "ORPHA:35099", "Isolated bicoronal craniosynostosis": "ORPHA:35099", "Isolated brachycephaly": "ORPHA:35099", "Non-syndromic bilateral coronal suture synostosis": "ORPHA:35099", "OBSOLETE: Isolated plagiocephaly": "ORPHA:35098", "OBSOLETE: Non-syndromic unicoronal synostosis": "ORPHA:35098", "OBSOLETE: Synostotic plagiocephaly": "ORPHA:35098", "Epidermal nevus syndrome": "ORPHA:35125", "Epidermal hamartoma syndrome": "ORPHA:35125", "OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency": "ORPHA:35123", "OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10": "ORPHA:35123", "OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency": "ORPHA:35123", "OBSOLETE: HSD deficiency": "ORPHA:35123", "Congenital sucrase-isomaltase deficiency": "ORPHA:35122", "CSID": "ORPHA:35122", "Congenital sucrose intolerance": "ORPHA:35122", "Disaccharide intolerance": "ORPHA:35122", "Lysosomal acid phosphatase deficiency": "ORPHA:35121", "Genetic epilepsy with febrile seizure plus": "ORPHA:36387", "GEFS+": "ORPHA:36387", "Generalized epilepsy with febrile seizures-plus": "ORPHA:36387", "Paraneoplastic neurologic syndrome": "ORPHA:36388", "PNS": "ORPHA:36388", "Adiposis dolorosa": "ORPHA:36397", "Adiposalgia": "ORPHA:36397", "Adipose tissue rheumatism": "ORPHA:36397", "Dercum disease": "ORPHA:36397", "Lipomatosis dolorosa": "ORPHA:36397", "Hypocomplementemic urticarial vasculitis": "ORPHA:36412", "Anti-C1q vasculitis": "ORPHA:36412", "Mac Duffie hypocomplementemic urticarial vasculitis": "ORPHA:36412", "Mac Duffie syndrome": "ORPHA:36412", "McDuffie hypocomplementemic urticarial vasculitis": "ORPHA:36412", "McDuffie syndrome": "ORPHA:36412", "OBSOLETE: Brain stem tumor": "ORPHA:36414", "Stevens-Johnson syndrome": "ORPHA:36426", "Dermatostomatitis, Stevens Johnson type": "ORPHA:36426", "NON RARE IN EUROPE: Anorexia nervosa": "ORPHA:36297", "Bleeding disorder due to P2Y12 defect": "ORPHA:36355", "Bleeding disorder due to ADP platelet receptor P2Y12 defect": "ORPHA:36355", "Distal deletion 1q syndrome": "ORPHA:36367", "Distal monosomy 1q": "ORPHA:36367", "Monosomy 1qter": "ORPHA:36367", "Telomeric deletion 1q": "ORPHA:36367", "OBSOLETE : Familial cervical artery dissection": "ORPHA:36382", "OBSOLETE: Familial CAD": "ORPHA:36382", "OBSOLETE: Hereditary CAD": "ORPHA:36382", "OBSOLETE: Hereditary cervical artery dissection": "ORPHA:36382", "COL4A1/2-related familial vascular leukoencephalopathy": "ORPHA:36383", "COL4A-related brain small vessel disease with hemorrhage": "ORPHA:36383", "COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome": "ORPHA:36383", "Hereditary sensory and autonomic neuropathy type 1": "ORPHA:36386", "HSAN1": "ORPHA:36386", "Hereditary sensory and autonomic neuropathy type I": "ORPHA:36386", "Bacterial toxic-shock syndrome": "ORPHA:36234", "Bacterial TSS": "ORPHA:36234", "OBSOLETE: Collagenous colitis": "ORPHA:36205", "Staphylococcal scalded skin syndrome": "ORPHA:36236", "Generalized exfoliative disease": "ORPHA:36236", "SSSS": "ORPHA:36236", "Staphylococcal scarlet fever": "ORPHA:36235", "Staphylococcal necrotizing pneumonia": "ORPHA:36238", "Bullous impetigo": "ORPHA:36237", "Gastric linitis plastica": "ORPHA:36273", "Borrmann gastric cancer type 4": "ORPHA:36273", "Linitis plastica of the stomach": "ORPHA:36273", "Buerger disease": "ORPHA:36258", "Thromboangiitis obliterans": "ORPHA:36258", "Malignant sex cord stromal tumor of ovary": "ORPHA:35808", "Malignant ovarian SCST": "ORPHA:35808", "Malignant ovarian sex cord-stromal tumor": "ORPHA:35808", "Malignant germ cell tumor of ovary": "ORPHA:35807", "MOGCT": "ORPHA:35807", "Malignant ovarian germ cell tumor": "ORPHA:35807", "Ovarian germ cell cancer": "ORPHA:35807", "Hyperinsulinism-hyperammonemia syndrome": "ORPHA:35878", "HI/HA syndrome": "ORPHA:35878", "Imerslund-Gr\u00e4sbeck syndrome": "ORPHA:35858", "Familial megaloblastic anemia": "ORPHA:35858", "Selective cobalamin malabsorption with proteinuria": "ORPHA:35858", "Combined deficiency of factor V and factor VIII": "ORPHA:35909", "F5F8D": "ORPHA:35909", "FV and FVIII combined deficiency": "ORPHA:35909", "Acute opioid intoxication": "ORPHA:35889", "Intestinal lymphangiectasia": "ORPHA:36204", "Polymicrogyria": "ORPHA:35981", "5-oxoprolinase deficiency": "ORPHA:33572", "Oxoprolinuria due to oxoprolinase deficiency": "ORPHA:33572", "Kleine-Levin syndrome": "ORPHA:33543", "Meningococcal meningitis": "ORPHA:33475", "Neuroectodermal melanolysosomal disease": "ORPHA:33445", "Elejalde neuroectodermal melanolysosomal disease": "ORPHA:33445", "NON RARE IN EUROPE: Lichen sclerosus": "ORPHA:33409", "NON RARE IN EUROPE: Lichen sclerosus et atrophicus": "ORPHA:33409", "Bullous lichen planus": "ORPHA:33408", "Familial GPIHBP1 deficiency": "ORPHA:535458", "Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency": "ORPHA:535458", "Pediatric hepatocellular carcinoma": "ORPHA:33402", "Childhood-onset HCC": "ORPHA:33402", "Childhood-onset hepatocellular carcinoma": "ORPHA:33402", "Pediatric HCC": "ORPHA:33402", "NON RARE IN EUROPE: HAIR-AN syndrome": "ORPHA:34412", "NON RARE IN EUROPE: Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome": "ORPHA:34412", "Naxos disease": "ORPHA:34217", "KWWH type I": "ORPHA:34217", "Keratoderma with woolly hair type I": "ORPHA:34217", "Keratosis palmoplantaris with arrythmogenic cardiomyopathy": "ORPHA:34217", "Naxos syndrome": "ORPHA:34217", "Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy": "ORPHA:34217", "Palmoplantar keratoderma with arrythmogenic cardiomyopathy": "ORPHA:34217", "Autosomal dominant tubulointerstitial kidney disease": "ORPHA:34149", "ADTKD": "ORPHA:34149", "Familial juvenile hyperuricemic nephropathy": "ORPHA:34149", "MCKD": "ORPHA:34149", "Medullary cystic kidney disease": "ORPHA:34149", "Immunoglobulin A nephropathy": "ORPHA:34145", "Berger disease": "ORPHA:34145", "IgA nephropathy": "ORPHA:34145", "Nodular non-suppurative panniculitis": "ORPHA:33577", "Idiopathic lobular panniculitis": "ORPHA:33577", "Idiopathic nodular panniculitis": "ORPHA:33577", "Pfeiffer-Weber-Christian syndrome": "ORPHA:33577", "Relapsing febrile nodular nonsuppurative panniculitis": "ORPHA:33577", "Relapsing febrile nodular panniculitis": "ORPHA:33577", "WCD": "ORPHA:33577", "Weber-Christian disease": "ORPHA:33577", "Weber-Christian panniculitis": "ORPHA:33577", "Glutamate-cysteine ligase deficiency": "ORPHA:33574", "Gamma-glutamylcysteine synthetase deficiency": "ORPHA:33574", "Gamma-glutamyl transpeptidase deficiency": "ORPHA:33573", "Gamma-glutamyl transferase deficiency": "ORPHA:33573", "Glutathionuria": "ORPHA:33573", "Autosomal agammaglobulinemia": "ORPHA:33110", "Agammaglobulinemia, non-Bruton type": "ORPHA:33110", "Granulomatous slack skin": "ORPHA:33111", "Lethal multiple pterygium syndrome": "ORPHA:33108", "Autosomal recessive lethal multiple pterygium syndrome": "ORPHA:33108", "LMPS": "ORPHA:33108", "Metaphyseal chondrodysplasia, Jansen type": "ORPHA:33067", "Dravet syndrome": "ORPHA:33069", "SMEI": "ORPHA:33069", "Severe myoclonic epilepsy of infancy": "ORPHA:33069", "Severe myoclonus epilepsy of infancy": "ORPHA:33069", "Lymphedema-distichiasis syndrome": "ORPHA:33001", "Reticular dysgenesis": "ORPHA:33355", "AK2 deficiency": "ORPHA:33355", "De Vaal disease": "ORPHA:33355", "SCID with sensorineural deafness": "ORPHA:33355", "SCID with sensorineural hearing loss": "ORPHA:33355", "Severe combined immunodeficiency with sensorineural deafness": "ORPHA:33355", "Severe combined immunodeficiency with sensorineural hearing loss": "ORPHA:33355", "Familial lipase maturation factor 1 deficiency": "ORPHA:535453", "Familial LMF1 deficiency": "ORPHA:535453", "Trichothiodystrophy": "ORPHA:33364", "Kaposi sarcoma": "ORPHA:33276", "Jessner lymphocytic infiltration of the skin": "ORPHA:33314", "Jessner-Kanof lymphocytic infiltration of the skin": "ORPHA:33314", "NON RARE IN EUROPE: Non-alcoholic fatty liver disease": "ORPHA:33271", "NON RARE IN EUROPE: NAFLD": "ORPHA:33271", "Idiopathic hypersomnia": "ORPHA:33208", "Idiopathic excessive sleepiness": "ORPHA:33208", "Waldenstr\u00f6m macroglobulinemia": "ORPHA:33226", "OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes": "ORPHA:35061", "NON RARE IN EUROPE: Trimethylaminuria": "ORPHA:35056", "NON RARE IN EUROPE: Fish-odor syndrome": "ORPHA:35056", "Infantile neuroaxonal dystrophy": "ORPHA:35069", "INAD": "ORPHA:35069", "INAD1": "ORPHA:35069", "Phospholipase A2-associated neurodegeneration": "ORPHA:35069", "Seitelberger disease": "ORPHA:35069", "NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis": "ORPHA:35066", "NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidiasis": "ORPHA:35066", "Non-syndromic sagittal craniosynostosis": "ORPHA:35093", "Isolated sagittal craniosynostosis": "ORPHA:35093", "Isolated scaphocephaly": "ORPHA:35093", "Non-syndromic sagittal suture synostosis": "ORPHA:35093", "T-B+ severe combined immunodeficiency due to JAK3 deficiency": "ORPHA:35078", "T-B+ SCID due to JAK3 deficiency": "ORPHA:35078", "Fulminant viral hepatitis": "ORPHA:35063", "Severe disseminated cytomegalovirus infection in immunocompetent patients": "ORPHA:35062", "Severe disseminated CMV infection in immunocompetent patients": "ORPHA:35062", "OBSOLETE: Idiopathic severe pneumococcemia": "ORPHA:35065", "OBSOLETE: Lethal idiopathic viral infection": "ORPHA:35064", "Congenital muscular dystrophy with integrin alpha-7 deficiency": "ORPHA:34520", "Congenital muscular dystrophy with ITGA7 deficiency": "ORPHA:34520", "Distal myopathy with early respiratory muscle involvement": "ORPHA:34521", "Telethonin-related limb-girdle muscular dystrophy R7": "ORPHA:34514", "Autosomal recessive limb-girdle muscular dystrophy type 2G": "ORPHA:34514", "LGMD due to telethonin deficiency": "ORPHA:34514", "LGMD type 2G": "ORPHA:34514", "LGMD2G": "ORPHA:34514", "Limb-girdle muscular dystrophy due to telethonin deficiency": "ORPHA:34514", "Limb-girdle muscular dystrophy type 2G": "ORPHA:34514", "Telethonin-related LGMD R7": "ORPHA:34514", "FKRP-related limb-girdle muscular dystrophy R9": "ORPHA:34515", "Autosomal recessive limb-girdle muscular dystrophy type 2I": "ORPHA:34515", "FKRP-related LGMD R9": "ORPHA:34515", "LGMD due to FKRP deficiency": "ORPHA:34515", "LGMD type 2I": "ORPHA:34515", "LGMD2I": "ORPHA:34515", "Limb-girdle muscular dystrophy due to FKRP deficiency": "ORPHA:34515", "Limb-girdle muscular dystrophy type 2I": "ORPHA:34515", "DNAJB6-related limb-girdle muscular dystrophy D1": "ORPHA:34516", "Autosomal dominant limb-girdle muscular dystrophy type 1D": "ORPHA:34516", "DNAJB6-related LGMD D1": "ORPHA:34516", "LGMD type 1D": "ORPHA:34516", "LGMD1D": "ORPHA:34516", "Limb-girdle muscular dystrophy type 1D": "ORPHA:34516", "Autosomal dominant limb-girdle muscular dystrophy type 1E": "ORPHA:34517", "LGMD1E": "ORPHA:34517", "Danon disease": "ORPHA:34587", "GSD due to LAMP-2 deficiency": "ORPHA:34587", "GSD, type 2B": "ORPHA:34587", "GSD, type IIb": "ORPHA:34587", "Glycogen storage disease due to LAMP-2 deficiency": "ORPHA:34587", "Glycogen storage disease, type 2B": "ORPHA:34587", "Glycogen storage disease, type IIb": "ORPHA:34587", "Glycogenosis due to LAMP-2 deficiency": "ORPHA:34587", "Lysosomal glycogen storage disease with normal acid maltase activity": "ORPHA:34587", "Immunodeficiency by defective expression of MHC class I": "ORPHA:34592", "Bare lymphocyte syndrome type 1": "ORPHA:34592", "MHC class I deficiency": "ORPHA:34592", "OBSOLETE: Genetic primary hypomagnesemia": "ORPHA:34526", "OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia": "ORPHA:34527", "Autosomal dominant primary hypomagnesemia with hypocalciuria": "ORPHA:34528", "HOMG2": "ORPHA:34528", "Isolated autosomal dominant hypomagnesemia": "ORPHA:34528", "Isolated renal magnesium wasting": "ORPHA:34528", "Renal hypomagnesemia type 2": "ORPHA:34528", "Corneal dystrophy": "ORPHA:34533", "RASopathy": "ORPHA:536391", "Myopathic Ehlers-Danlos syndrome": "ORPHA:536516", "EDS/myopathy overlap syndrome": "ORPHA:536516", "Myopathic EDS": "ORPHA:536516", "Spondylodysplastic Ehlers-Danlos syndrome": "ORPHA:536471", "Spondylodysplastic EDS": "ORPHA:536471", "spEDS": "ORPHA:536471", "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome": "ORPHA:536467", "B3GALT6-related spEDS": "ORPHA:536467", "B3GALT6-related spondylodysplastic EDS": "ORPHA:536467", "Beta3GalT6-deficient EDS": "ORPHA:536467", "Ehlers-Danlos syndrome progeroid type 2": "ORPHA:536467", "spEDS-B3GALT6": "ORPHA:536467", "Kyphoscoliotic Ehlers-Danlos syndrome": "ORPHA:536545", "EDS VI": "ORPHA:536545", "Ehlers-Danlos syndrome type 6": "ORPHA:536545", "Kyphoscoliotic EDS": "ORPHA:536545", "kEDS": "ORPHA:536545", "Classical-like Ehlers-Danlos syndrome type 2": "ORPHA:536532", "AEBP1-related EDS": "ORPHA:536532", "AEBP1-related Ehlers-Danlos syndrome": "ORPHA:536532", "Classical-like EDS type 2": "ORPHA:536532", "clEDS type 2": "ORPHA:536532", "PLG-related hereditary angioedema with normal C1Inh": "ORPHA:537072", "PLG-related HAE with normal C1 inhibitor": "ORPHA:537072", "Tumor necrosis factor receptor 1 associated periodic syndrome": "ORPHA:32960", "Familial Hibernian fever": "ORPHA:32960", "TNF receptor 1-associated periodic syndrome": "ORPHA:32960", "TRAPS syndrome": "ORPHA:32960", "Rare teratologic disease": "ORPHA:52662", "Acquired embryofetopathy": "ORPHA:52662", "Pseudo-von Willebrand disease": "ORPHA:52530", "PT-VWD": "ORPHA:52530", "Platelet type-von Willebrand disease": "ORPHA:52530", "Pseudo-von Willebrand disease type 2B": "ORPHA:52530", "Myelodysplastic syndrome": "ORPHA:52688", "Branchiootic syndrome": "ORPHA:52429", "OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh": "ORPHA:537891", "OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor": "ORPHA:537891", "Congenital muscular dystrophy type 1C": "ORPHA:52428", "CMD1C": "ORPHA:52428", "MDC1C": "ORPHA:52428", "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy": "ORPHA:538096", "X-linked creatine transporter deficiency": "ORPHA:52503", "Creatine transporter deficiency": "ORPHA:52503", "SLC6A8 deficiency": "ORPHA:52503", "Congenital axonal neuropathy with encephalopathy": "ORPHA:538101", "Neurological channelopathy of the central nervous system due to a genetic chloride channel defect": "ORPHA:538238", "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia": "ORPHA:52430", "IBMPFD": "ORPHA:52430", "Limb-girdle muscular dystrophy with Paget disease of bone": "ORPHA:52430", "Pagetoid amyotrophic lateral sclerosis": "ORPHA:52430", "Pagetoid neuroskeletal syndrome": "ORPHA:52430", "Mantle cell lymphoma": "ORPHA:52416", "LCM": "ORPHA:52416", "MCL": "ORPHA:52416", "Mantle zone lymphoma": "ORPHA:52416", "Retinitis punctata albescens": "ORPHA:52427", "RPA": "ORPHA:52427", "MALT lymphoma": "ORPHA:52417", "Extranodal marginal zone B-cell lymphoma": "ORPHA:52417", "MALToma": "ORPHA:52417", "Mucosa-associated lymphatic tissue lymphoma": "ORPHA:52417", "Mucosa-associated lymphoid tissue lymphoma": "ORPHA:52417", "Ulnar/fibula ray defect-brachydactyly syndrome": "ORPHA:52056", "Morava-Mehes syndrome": "ORPHA:52056", "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome": "ORPHA:52055", "Graham-Cox syndrome": "ORPHA:52055", "Mohr-Tranebjaerg syndrome": "ORPHA:52368", "DDON syndrome": "ORPHA:52368", "Deafness-dystonia-optic neuronopathy syndrome": "ORPHA:52368", "Hearing loss-dystonia-optic neuronopathy syndrome": "ORPHA:52368", "Premature chromosome condensation with microcephaly and intellectual disability": "ORPHA:52183", "Muenke syndrome": "ORPHA:53271", "Familial cutaneous collagenoma": "ORPHA:53296", "Brody myopathy": "ORPHA:53347", "Orbital leiomyoma": "ORPHA:52994", "Caroli disease": "ORPHA:53035", "Vasculitis": "ORPHA:52759", "Systemic vasculitis": "ORPHA:52759", "Isolated follicle stimulating hormone deficiency": "ORPHA:52901", "Isolated FSH deficiency": "ORPHA:52901", "Congenital lactase deficiency": "ORPHA:53690", "Congenital chloride diarrhea": "ORPHA:53689", "Classic pyoderma gangrenosum": "ORPHA:538863", "Ulcerative pyoderma gangrenosum": "ORPHA:538863", "Familial multiple discoid fibromas": "ORPHA:538756", "Familial multiple trichodiscomas": "ORPHA:538756", "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome": "ORPHA:538574", "Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome": "ORPHA:538574", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity": "ORPHA:53583", "DYT9": "ORPHA:53583", "Episodic choreoathetosis/spasticity": "ORPHA:53583", "Goldmann-Favre syndrome": "ORPHA:53540", "Enhanced S-cone syndrome": "ORPHA:53540", "Retinoschisis with early nyctalopia": "ORPHA:53540", "Hereditary geniospasm": "ORPHA:53372", "Familial trembling of the chin": "ORPHA:53372", "Hereditary chin myoclonus": "ORPHA:53372", "Hereditary chin-trembling": "ORPHA:53372", "X-linked dystonia-parkinsonism": "ORPHA:53351", "DYT3": "ORPHA:53351", "Lubag": "ORPHA:53351", "Lubag syndrome": "ORPHA:53351", "XDP": "ORPHA:53351", "Left ventricular noncompaction": "ORPHA:54260", "LVNC": "ORPHA:54260", "Left ventricular hypertrabeculation": "ORPHA:54260", "Spongy myocardium": "ORPHA:54260", "Posterior cortical atrophy": "ORPHA:54247", "Benson syndrome": "ORPHA:54247", "Biparietal Alzheimer disease": "ORPHA:54247", "PCA": "ORPHA:54247", "X-linked lymphoproliferative disease due to XIAP deficiency": "ORPHA:538934", "X-linked lymphoproliferative syndrome type 2": "ORPHA:538934", "XIAP deficiency syndrome": "ORPHA:538934", "XLP2": "ORPHA:538934", "Aseptic abscess syndrome": "ORPHA:54251", "Aseptic abscesses syndrome": "ORPHA:54251", "Aseptic systemic abscesses": "ORPHA:54251", "Corticosteroid-sensitive aseptic abscess syndrome": "ORPHA:54251", "Disseminated aseptic abscesses": "ORPHA:54251", "X-linked lymphoproliferative disease due to SAP deficiency": "ORPHA:538931", "X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency": "ORPHA:538931", "X-linked lymphoproliferative disease due to SH2D1A deficiency": "ORPHA:538931", "X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency": "ORPHA:538931", "X-linked lymphoproliferative syndrome type 1": "ORPHA:538931", "XLP1": "ORPHA:538931", "Thrombotic thrombocytopenic purpura": "ORPHA:54057", "Moschcowitz disease": "ORPHA:54057", "TTP": "ORPHA:54057", "Myotonic dystrophy type 3": "ORPHA:54238", "Distal hereditary motor neuropathy": "ORPHA:53739", "Distal spinal muscular atrophy": "ORPHA:53739", "dHMN": "ORPHA:53739", "dSMA": "ORPHA:53739", "Plummer-Vinson syndrome": "ORPHA:54028", "Kelly-Paterson syndrome": "ORPHA:54028", "Sideropenic dysphagia": "ORPHA:54028", "Wyburn-Mason syndrome": "ORPHA:53719", "Bonnet-Dechaume-Blanc syndrome": "ORPHA:53719", "CAMS2": "ORPHA:53719", "Cerebrofacial arteriovenous metameric syndrome type 2": "ORPHA:53719", "Spinal arteriovenous metameric syndrome": "ORPHA:53721", "Cobb syndrome": "ORPHA:53721", "Cutaneomeningospinal angiomatosis": "ORPHA:53721", "SAMS 1-31": "ORPHA:53721", "Myosin storage myopathy": "ORPHA:53698", "Hyaline body myopathy": "ORPHA:53698", "Familial tumoral calcinosis": "ORPHA:53715", "Arthrogryposis-anterior horn cell disease syndrome": "ORPHA:53696", "AAHD": "ORPHA:53696", "Vuopala disease": "ORPHA:53696", "Vegetative pyoderma gangrenosum": "ORPHA:538872", "Granulomatous pyoderma gangrenosum": "ORPHA:538872", "Gnathodiaphyseal dysplasia": "ORPHA:53697", "GDD": "ORPHA:53697", "Congenital cornea plana": "ORPHA:53691", "Bullous pyoderma gangrenosum": "ORPHA:538869", "Phemphigoid pyoderma gangrenosum": "ORPHA:538869", "Pustular pyoderma gangrenosum": "ORPHA:538866", "GRACILE syndrome": "ORPHA:53693", "Fellman disease": "ORPHA:53693", "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome": "ORPHA:53693", "Aceruloplasminemia": "ORPHA:48818", "Hereditary ceruloplasmin deficiency": "ORPHA:48818", "Embryonal carcinoma of the central nervous system": "ORPHA:48736", "Embryonal carcinoma of the CNS": "ORPHA:48736", "IgG4-related retroperitoneal fibrosis": "ORPHA:49041", "Idiopathic retroperitoneal fibrosis": "ORPHA:49041", "Ormond disease": "ORPHA:49041", "Focal myositis": "ORPHA:48918", "Focal nodular myositis": "ORPHA:48918", "Inflammatory pseudotumor of skeletal muscle": "ORPHA:48918", "Achromatopsia": "ORPHA:49382", "ACHM": "ORPHA:49382", "Complete or incomplete color blindness": "ORPHA:49382", "Pingelapese blindness": "ORPHA:49382", "Rod monochromacy": "ORPHA:49382", "Rod monochromatism": "ORPHA:49382", "Total color blindness": "ORPHA:49382", "Dentinogenesis imperfecta": "ORPHA:49042", "DGI": "ORPHA:49042", "DGI without OI": "ORPHA:49042", "DI": "ORPHA:49042", "Dentinogenesis imperfecta without osteogenesis imperfecta": "ORPHA:49042", "Non-syndromic DGI": "ORPHA:49042", "Non-syndromic dentinogenesis imperfecta": "ORPHA:49042", "Opalescent teeth without OI": "ORPHA:49042", "Opalescent teeth without osteogenesis imperfecta": "ORPHA:49042", "Combined immunodeficiency due to CD70 deficiency": "ORPHA:538958", "CID due to CD70 deficiency": "ORPHA:538958", "Congenital cataracts-facial dysmorphism-neuropathy syndrome": "ORPHA:48431", "CCFDN": "ORPHA:48431", "Combined immunodeficiency due to ITK deficiency": "ORPHA:538963", "Autosomal recessive lymphoproliferative disease due to ITK deficiency": "ORPHA:538963", "ITK deficiency": "ORPHA:538963", "Lissencephaly": "ORPHA:48471", "Postinfectious vasculitis": "ORPHA:48435", "Primary effusion lymphoma": "ORPHA:48686", "Body cavity-based lymphoma": "ORPHA:48686", "PEL": "ORPHA:48686", "Phelan-McDermid syndrome": "ORPHA:48652", "Talo-patello-scaphoid osteolysis": "ORPHA:50809", "Singh-Williams-McAlister syndrome": "ORPHA:50809", "Microlissencephaly-micromelia syndrome": "ORPHA:50810", "Basel-Vanagaite-Sirota syndrome": "ORPHA:50810", "Lipodystrophy-intellectual disability-deafness syndrome": "ORPHA:50811", "Lipodystrophy-intellectual disability-hearing loss syndrome": "ORPHA:50811", "Rajab-Spranger syndrome": "ORPHA:50811", "Zellweger-like syndrome without peroxisomal anomalies": "ORPHA:50812", "Ahn-Lerman-Sagie syndrome": "ORPHA:50812", "Craniolenticulosutural dysplasia": "ORPHA:50814", "Boyadjiev-Jabs syndrome": "ORPHA:50814", "Branchiogenic deafness syndrome": "ORPHA:50815", "Branchiogenic hearing loss syndrome": "ORPHA:50815", "M\u00e9garban\u00e9-Loiselet syndrome": "ORPHA:50815", "Spondylometaphyseal dysplasia with combined immunodeficiency": "ORPHA:50816", "Roifman-Melamed syndrome": "ORPHA:50816", "SPENCDI": "ORPHA:50816", "Spondyloenchondrodysplasia with immune dysregulation": "ORPHA:50816", "Acquired purpura fulminans": "ORPHA:49566", "Lichen amyloidosis": "ORPHA:49804", "Amyloid lichen": "ORPHA:49804", "Lichen amyloidosus": "ORPHA:49804", "Thiamine-responsive megaloblastic anemia syndrome": "ORPHA:49827", "Rogers syndrome": "ORPHA:49827", "TRMA": "ORPHA:49827", "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness": "ORPHA:49827", "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss": "ORPHA:49827", "Pleural mesothelioma": "ORPHA:50251", "Blomstrand lethal chondrodysplasia": "ORPHA:50945", "BLC": "ORPHA:50945", "BOCD": "ORPHA:50945", "Blomstrand chondrodysplasia": "ORPHA:50945", "Blomstrand osteochondrodysplasia": "ORPHA:50945", "Chondrodysplasia, Blomstrand type": "ORPHA:50945", "Sch\u00f6pf-Schulz-Passarge syndrome": "ORPHA:50944", "Eccrine tumors-ectodermal dysplasia": "ORPHA:50944", "Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome": "ORPHA:50944", "Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome": "ORPHA:50944", "Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome": "ORPHA:50944", "SSPS": "ORPHA:50944", "Torsade-de-pointes syndrome with short coupling interval": "ORPHA:51084", "Familial short QT syndrome": "ORPHA:51083", "SQTS": "ORPHA:51083", "OBSOLETE: Melanoma-pancreatic cancer syndrome": "ORPHA:51013", "Cat-scratch disease": "ORPHA:50839", "Bartonellosis due to Bartonella henselae infection": "ORPHA:50839", "NON RARE IN EUROPE: Carpal tunnel syndrome": "ORPHA:50838", "Duane anomaly-myopathy-scoliosis syndrome": "ORPHA:50817", "Verloes-Deprez syndrome": "ORPHA:50817", "Keratolytic winter erythema": "ORPHA:50943", "Erythrokeratolysis hiemalis": "ORPHA:50943", "Oudtshoorn disease": "ORPHA:50943", "Striate palmoplantar keratoderma": "ORPHA:50942", "Keratosis palmoplantaris striata": "ORPHA:50942", "Keratosis palmoplantaris striata et areata": "ORPHA:50942", "Keratosis palmoplantaris varians of Wachters": "ORPHA:50942", "OBSOLETE: Multiple fibroadenoma of the breast": "ORPHA:50920", "OBSOLETE: Mammary polyadenomatosis": "ORPHA:50920", "Kikuchi-Fujimoto disease": "ORPHA:50918", "Histiocytic necrotizing lymphadenitis": "ORPHA:50918", "Kikuchi disease": "ORPHA:50918", "Craniosynostosis-intracranial calcifications syndrome": "ORPHA:52054", "Longman-Tolmie syndrome": "ORPHA:52054", "Potocki-Shaffer syndrome": "ORPHA:52022", "11p11.2 deletion": "ORPHA:52022", "Proximal 11p deletion syndrome": "ORPHA:52022", "Braddock syndrome": "ORPHA:52047", "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency": "ORPHA:52047", "Cobblestone lissencephaly": "ORPHA:51577", "Lissencephaly type 2": "ORPHA:51577", "Generalized arterial calcification of infancy": "ORPHA:51608", "Idiopathic infantile arterial calcification": "ORPHA:51608", "Idiopathic obliterative arteriopathy": "ORPHA:51608", "Infantile arteriosclerosis": "ORPHA:51608", "Occlusive infantile arteriopathy": "ORPHA:51608", "Ethylmalonic encephalopathy": "ORPHA:51188", "Growth delay-intellectual disability-hepatopathy syndrome": "ORPHA:541423", "Formiminoglutamic aciduria": "ORPHA:51208", "FTCD deficiency": "ORPHA:51208", "Formiminotransferase cyclodeaminase deficiency": "ORPHA:51208", "Glutamate formiminotransferase deficiency": "ORPHA:51208", "Anomalous origin of coronary artery from the pulmonary artery": "ORPHA:541507", "ACAPA": "ORPHA:541507", "Anomalous aortic origin of coronary artery": "ORPHA:541478", "AAOCA": "ORPHA:541478", "WHIM syndrome": "ORPHA:51636", "WILM": "ORPHA:51636", "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome": "ORPHA:51636", "Warts-infections-leukopenia-myelokatexis syndrome": "ORPHA:51636", "Anomalous aortic origin of the right coronary artery": "ORPHA:541454", "AORCA": "ORPHA:541454", "R-ACAOS": "ORPHA:541454", "Right coronary artery from left aortic sinus": "ORPHA:541454", "Anterior cutaneous nerve entrapment syndrome": "ORPHA:51890", "ACNES": "ORPHA:51890", "Intercostal nerve syndrome": "ORPHA:51890", "Rectus abdominis syndrome": "ORPHA:51890", "Anomalous aortic origin of the left coronary artery": "ORPHA:541443", "AOLCA": "ORPHA:541443", "L-ACAOS": "ORPHA:541443", "Left coronary artery from right aortic sinus": "ORPHA:541443", "GNB5-related intellectual disability-cardiac arrhythmia syndrome": "ORPHA:542306", "Combined immunodeficiency due to CARMIL2 deficiency": "ORPHA:542301", "Combined immunodeficiency due to RLTPR deficiency": "ORPHA:542301", "Leukoencephalopathy with calcifications and cysts": "ORPHA:542310", "LCC": "ORPHA:542310", "Labrune syndrome": "ORPHA:542310", "Rare vascular anomaly": "ORPHA:68419", "PFAPA syndrome": "ORPHA:42642", "Marshall syndrome with periodic fever": "ORPHA:42642", "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome": "ORPHA:42642", "Tietz syndrome": "ORPHA:42665", "Hypopigmentation-deafness syndrome": "ORPHA:42665", "Hypopigmentation-hearing loss syndrome": "ORPHA:42665", "CAR T cell therapy-associated cytokine release syndrome": "ORPHA:542323", "CAR T cell therapy-associated CRS": "ORPHA:542323", "Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome": "ORPHA:542323", "Acute tricyclic antidepressant poisoning": "ORPHA:43117", "Auditory neuropathy-optic atrophy syndrome": "ORPHA:542585", "Serotonin syndrome": "ORPHA:43116", "Serotonergic syndrome": "ORPHA:43116", "Serotonin storm": "ORPHA:43116", "Serotonin toxicity": "ORPHA:43116", "Serotonin toxidrome": "ORPHA:43116", "Necrobiosis lipoidica": "ORPHA:542592", "Oppenheim-Urbach disease": "ORPHA:542592", "Lambert-Eaton myasthenic syndrome": "ORPHA:43393", "Acute poisoning by drugs with membrane-stabilizing effect": "ORPHA:43119", "Livedoid vasculopathy": "ORPHA:542643", "Livedo reticularis with summer ulcerations": "ORPHA:542643", "Milian atrophie blanche": "ORPHA:542643", "Segmental hyalinizing vasculitis": "ORPHA:542643", "PHACE syndrome": "ORPHA:42775", "PHACES syndrome": "ORPHA:42775", "Pascual-Castroviejo syndrome type 2": "ORPHA:42775", "Severe congenital neutropenia": "ORPHA:42738", "Hereditary myopathy with lactic acidosis due to ISCU deficiency": "ORPHA:43115", "Aconitase deficiency": "ORPHA:43115", "ISCU myopathy": "ORPHA:43115", "Iron-sulfur cluster deficiency myopathy": "ORPHA:43115", "Myopathy with exercise intolerance, Swedish type": "ORPHA:43115", "Quadricuspid aortic valve": "ORPHA:542568", "Miyoshi myopathy": "ORPHA:45448", "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome": "ORPHA:543470", "Incessant infant ventricular tachycardia": "ORPHA:45453", "Idiopathic neonatal atrial flutter": "ORPHA:45452", "Isolated hyperchlorhidrosis": "ORPHA:542657", "Carbonic anhydrase XII deficiency": "ORPHA:542657", "Anomaly of the coronary ostia": "ORPHA:542822", "Gastrointestinal stromal tumor": "ORPHA:44890", "GIST": "ORPHA:44890", "Gastrointestinal stromal sarcoma": "ORPHA:44890", "NON RARE IN EUROPE: Meni\u00e8re disease": "ORPHA:45360", "Congenital fibrosis of extraocular muscles": "ORPHA:45358", "FEOM": "ORPHA:45358", "Epidermolysis bullosa acquisita": "ORPHA:46487", "Acquired epidermolysis bullosa": "ORPHA:46487", "SYNGAP1-related developmental and epileptic encephalopathy": "ORPHA:544254", "SYNGAP1-related DEE": "ORPHA:544254", "Linear IgA dermatosis": "ORPHA:46488", "Superficial pemphigus": "ORPHA:46485", "Mucous membrane pemphigoid": "ORPHA:46486", "Cicatricial pemphigoid": "ORPHA:46486", "Mucosal pemphigoid": "ORPHA:46486", "Mucosynechial pemphigoid": "ORPHA:46486", "Paroxysmal extreme pain disorder": "ORPHA:46348", "Familial rectal pain": "ORPHA:46348", "Oligodendroglial tumor": "ORPHA:46484", "Lathosterolosis": "ORPHA:46059", "Sterol C5-desaturase deficiency": "ORPHA:46059", "Primary central nervous system lymphoma": "ORPHA:46135", "PCNSL": "ORPHA:46135", "Primary CNS lymphoma": "ORPHA:46135", "Primary brain lymphoma": "ORPHA:46135", "Hemolytic uremic syndrome": "ORPHA:544458", "HUS": "ORPHA:544458", "Hereditary papillary renal cell carcinoma": "ORPHA:47044", "HPRC": "ORPHA:47044", "Cerebral arteriovenous malformation": "ORPHA:46724", "Intracranial arteriovenous malformation": "ORPHA:46724", "Char syndrome": "ORPHA:46627", "Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits": "ORPHA:46627", "Primordial short stature-microdontia-opalescent and rootless teeth syndrome": "ORPHA:46658", "OBSOLETE: Bullous systemic lupus erythematosus": "ORPHA:46489", "OBSOLETE: BSLE": "ORPHA:46489", "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome": "ORPHA:46532", "HPFH-beta-thalassemia syndrome": "ORPHA:46532", "Nodular regenerative hyperplasia of the liver": "ORPHA:48372", "Non-cirrhotic nodulation": "ORPHA:48372", "Lewis-Sumner syndrome": "ORPHA:48162", "MADSAM": "ORPHA:48162", "Multifocal acquired demyelinating sensory and motor neuropathy": "ORPHA:48162", "Streptococcus pneumoniae-associated hemolytic uremic syndrome": "ORPHA:544493", "S. pneumoniae-associated HUS": "ORPHA:544493", "SP-HUS": "ORPHA:544493", "Pyoderma gangrenosum": "ORPHA:48104", "RNF13-related severe early-onset epileptic encephalopathy": "ORPHA:544503", "RNF13-related severe EOEE": "ORPHA:544503", "Felty syndrome": "ORPHA:47612", "Splenomegaly-neutropenia-rheumatoid arthritis syndrome": "ORPHA:47612", "Infection-related hemolytic uremic syndrome": "ORPHA:544482", "Infection-related HUS": "ORPHA:544482", "Proximal renal tubular acidosis": "ORPHA:47159", "Renal tubular acidosis type 2": "ORPHA:47159", "pRTA": "ORPHA:47159", "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome": "ORPHA:544488", "Bachmann-Bupp syndrome": "ORPHA:544488", "Ornithine decarboxylase deficiency": "ORPHA:544488", "PRUNE1-related neurological syndrome": "ORPHA:544469", "Atypical hemolytic uremic syndrome with complement gene abnormality": "ORPHA:544472", "Atypical HUS with complement gene abnormality": "ORPHA:544472", "aHUS with complement gene abnormality": "ORPHA:544472", "Familial cold urticaria": "ORPHA:47045", "FCAS": "ORPHA:47045", "FCU": "ORPHA:47045", "Familial cold autoinflammatory syndrome": "ORPHA:47045", "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome": "ORPHA:544628", "Collagen-related glomerular basement membrane disease": "ORPHA:544590", "Congenital myopathy with reduced type 2 muscle fibers": "ORPHA:544602", "Congenital myopathy with fast-twitch fiber atrophy": "ORPHA:544602", "Congenital myopathy with reduced type II muscle fibers": "ORPHA:544602", "Congenital myopathy with type 2 muscle fiber atrophy": "ORPHA:544602", "Congenital myopathy with type II fiber atrophy": "ORPHA:544602", "Subcorneal pustular dermatosis": "ORPHA:48377", "Pustulosis subcornealis": "ORPHA:48377", "Sneddon-Wilkinson disease": "ORPHA:48377", "Subcorneal pustular dermatitis": "ORPHA:48377", "Congenital primary megaureter, refluxing and obstructed form": "ORPHA:544578", "Rare deafness": "ORPHA:68361", "Rare hearing loss": "ORPHA:68361", "Rare vascular disease": "ORPHA:68362", "Rare dystonia": "ORPHA:68363", "Rare dystonic disorder": "ORPHA:68363", "NAD(P)HX dehydratase deficiency": "ORPHA:555402", "CARKD deficiency": "ORPHA:555402", "Hemoglobinopathy": "ORPHA:68364", "Fibrohistiocytic inflammatory pseudotumor of the liver": "ORPHA:555434", "NAD(P)HX epimerase deficiency": "ORPHA:555407", "Apolipoprotein A-I binding protein deficiency": "ORPHA:555407", "Lysosomal disease": "ORPHA:68366", "Rare inborn errors of metabolism": "ORPHA:68367", "Rare metabolic disease": "ORPHA:68367", "Lymphoplasmacytic inflammatory pseudotumor of the liver": "ORPHA:555437", "IgG4-related inflammatory pseudotumor of the liver": "ORPHA:555437", "Peroxisomal disease": "ORPHA:68373", "Congenital tricuspid valve dysplasia": "ORPHA:555874", "Congenital limb malformation": "ORPHA:68378", "FLNA-related X-linked myxomatous valvular dysplasia": "ORPHA:555877", "FLNA-related valvular dystrophy": "ORPHA:555877", "Filamin A-related X-linked myxomatous valvular dysplasia": "ORPHA:555877", "Neuromuscular disease": "ORPHA:68381", "IgA pemphigus": "ORPHA:555905", "Mitochondrial disease": "ORPHA:68380", "Rare constitutional aplastic anemia": "ORPHA:68383", "Early-onset familial hypoaldosteronism": "ORPHA:556030", "Early-onset familial hyperreninemic hypoaldosteronism": "ORPHA:556030", "Severe aldosterone synthase deficiency": "ORPHA:556030", "Neurometabolic disease": "ORPHA:68385", "Late-onset familial hypoaldosteronism": "ORPHA:556037", "Late-onset familial hyperreninemic hypoaldosteronism": "ORPHA:556037", "Mild aldosterone synthase deficiency": "ORPHA:556037", "OBSOLETE: Neurofibromatosis": "ORPHA:68388", "Early-onset calcifying leukoencephalopathy-skeletal dysplasia": "ORPHA:556985", "Pancreatic agenesis-holoprosencephaly syndrome": "ORPHA:556955", "Rare disorder due to poisoning": "ORPHA:556508", "Rare parkinsonian disorder": "ORPHA:68402", "Rare hypokinetic movement disorder": "ORPHA:68402", "Neonatal epileptic encephalopathy due to glutaminase deficiency": "ORPHA:557064", "Spastic ataxia-dysarthria due to glutaminase deficiency": "ORPHA:557056", "Oculoskeletodental syndrome": "ORPHA:557003", "Oculo-skeleto-dental syndrome": "ORPHA:557003", "Rare bone tumor": "ORPHA:68411", "Rare infectious disease": "ORPHA:68416", "Rare parathyroid disease and phosphocalcic metabolism anomaly": "ORPHA:68415", "Acquired aneurysmal subarachnoid hemorrhage": "ORPHA:90065", "Isolated iridoschisis": "ORPHA:519392", "Pneumonia caused by Pseudomonas aeruginosa infection": "ORPHA:90066", "Isolated blepharochalasis": "ORPHA:519390", "Isolated microspherophakia": "ORPHA:519396", "Cocaine intoxication": "ORPHA:90068", "OBSOLETE: Isolated microphakia": "ORPHA:519394", "Non-infectious posterior uveitis": "ORPHA:90061", "Non-infectious choroiditis": "ORPHA:90061", "Congenital cystic eye": "ORPHA:519384", "Congenital anophthalmos with cyst": "ORPHA:519384", "OBSOLETE: Syndromic malformation of the optic disc": "ORPHA:519357", "Acute liver failure": "ORPHA:90062", "Acute hepatic failure": "ORPHA:90062", "Fulminant hepatic failure": "ORPHA:90062", "Autosomal recessive anterior segment dysgenesis": "ORPHA:519388", "Acute peripheral arterial occlusion": "ORPHA:90064", "Isolated congenital entropion": "ORPHA:519386", "Hepatitis B reinfection following liver transplantation": "ORPHA:90073", "Mooren ulcer": "ORPHA:519408", "Thygeson superficial punctate keratitis": "ORPHA:519406", "Thygeson superficial punctate keratopathy": "ORPHA:519406", "Terrien marginal degeneration": "ORPHA:519410", "Partial deep dermal and full thickness burns": "ORPHA:90076", "Systemic monochloroacetate poisoning": "ORPHA:90069", "Peripapillary staphyloma": "ORPHA:519400", "OBSOLETE: Methotrexate poisoning": "ORPHA:90070", "OBSOLETE: Methotrexate intoxication": "ORPHA:90070", "Isolated foveal hypoplasia": "ORPHA:519398", "Optic disc pit": "ORPHA:519404", "Isolated megalopapilla": "ORPHA:519402", "Retinopathy of prematurity": "ORPHA:90050", "ROP": "ORPHA:90050", "Retrolental fibroplasia": "ORPHA:90050", "Congenital optic disc excavation": "ORPHA:519333", "OBSOLETE: Inflammatory/autoimmune optic neuropathy": "ORPHA:519335", "Hereditary folate malabsorption": "ORPHA:90045", "Congenital folate malabsorption": "ORPHA:90045", "Recurrent hepatitis C virus induced liver disease in liver transplant recipients": "ORPHA:90052", "Disorder with optic nerve compression": "ORPHA:519337", "Sepsis in premature infants": "ORPHA:90051", "Pseudopapilledema": "ORPHA:519339", "Syndromic inherited retinal disorder": "ORPHA:519325", "Syndromic retinal dystrophy": "ORPHA:519325", "Gaisb\u00f6ck syndrome": "ORPHA:90041", "Stress erythrocytosis": "ORPHA:90041", "Stress polycythemia": "ORPHA:90041", "Syndromic vitreoretinopathy": "ORPHA:519327", "Hemoglobin D disease": "ORPHA:90039", "Rare disorder involving multiple structures of the eye": "ORPHA:519329", "Familial pseudohyperkalemia": "ORPHA:90044", "Secondary early-onset glaucoma": "ORPHA:519331", "Primary familial polycythemia": "ORPHA:90042", "Congenital erythrocytosis due to erythropoietin receptor mutation": "ORPHA:90042", "Congenital polycythemia due to erythropoietin receptor mutation": "ORPHA:90042", "Familial erythrocytosis": "ORPHA:90042", "PFCP": "ORPHA:90042", "Primary congenital erythrocytosis": "ORPHA:90042", "Primary familial and congenital polycythemia": "ORPHA:90042", "Spinal cord injury": "ORPHA:90058", "Rare ophthalmic disorder with cranial nerve involvement": "ORPHA:519349", "Rare optic nerve disorder": "ORPHA:519351", "Rare trochlear nerve disorder": "ORPHA:519353", "Diffuse alveolar hemorrhage": "ORPHA:90060", "Rare ocular motility/alignment disorder": "ORPHA:519355", "Sudden sensorineural hearing loss": "ORPHA:90059", "Secondary acute sensorineural hearing loss": "ORPHA:90059", "Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature": "ORPHA:519341", "Rare ophthalmic disorder with cortical involvement": "ORPHA:519343", "Complications after hematopoietic stem cell transplantation": "ORPHA:90053", "Complications after HSCT": "ORPHA:90053", "Rare disorder with optic disc malformation": "ORPHA:519345", "Moderate and severe traumatic brain injury": "ORPHA:90056", "Rare neuromuscular disorder with ocular motility/alignment anomaly": "ORPHA:519347", "OBSOLETE: Rejection after corneal transplantation": "ORPHA:90055", "Deafness with labyrinthine aplasia, microtia, and microdontia": "ORPHA:90024", "Hearing loss with labyrinthine aplasia, microtia, and microdontia": "ORPHA:90024", "LAMM syndrome": "ORPHA:90024", "Microdontia-type I microtia-deafness syndrome": "ORPHA:90024", "Microdontia-type I microtia-hearing loss syndrome": "ORPHA:90024", "Isolated progressive inherited retinal disorder": "ORPHA:519306", "Non-syndromic syndactyly": "ORPHA:90025", "Isolated vitreoretinopathy": "ORPHA:519304", "OBSOLETE: Cardiomyopathy-renal anomalies syndrome": "ORPHA:90022", "Isolated macular dystrophy": "ORPHA:519302", "Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency": "ORPHA:90023", "Primary immunodeficiency syndrome due to LAMTOR2 deficiency": "ORPHA:90023", "Primary immunodeficiency syndrome due to P14 deficiency": "ORPHA:90023", "Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency": "ORPHA:90023", "Isolated chorioretinal dystrophy": "ORPHA:519300", "Rare scleral disorder": "ORPHA:519298", "Parkinson-dementia complex of Guam": "ORPHA:90020", "G-PDC": "ORPHA:90020", "Guam disease": "ORPHA:90020", "Guam parkinsonism-dementia complex": "ORPHA:90020", "Lytico-Bodig disease": "ORPHA:90020", "Rare disorder with pigmented sclera": "ORPHA:519296", "Radiation myelitis": "ORPHA:90021", "Undifferentiated connective tissue syndrome": "ORPHA:90002", "UCTD": "ORPHA:90002", "Syndromic microspherophakia": "ORPHA:519294", "Syndromic ectopia lentis": "ORPHA:519292", "Inflammatory pseudotumor of the liver": "ORPHA:90003", "Syndromic macular dystrophy": "ORPHA:519323", "Drug-induced autoimmune hemolytic anemia": "ORPHA:90037", "Drug-induced AIHA": "ORPHA:90037", "Syndromic chorioretinal dystrophy": "ORPHA:519321", "Shiga toxin-associated hemolytic uremic syndrome": "ORPHA:90038", "D+ HUS": "ORPHA:90038", "EHEC-HUS": "ORPHA:90038", "Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli": "ORPHA:90038", "Hemolytic uremic syndrome with diarrhea": "ORPHA:90038", "STEC-HUS": "ORPHA:90038", "Shiga-like toxin-associated HUS": "ORPHA:90038", "Stx-HUS": "ORPHA:90038", "Typical HUS": "ORPHA:90038", "Typical hemolytic uremic syndrome": "ORPHA:90038", "Paroxysmal cold hemoglobinuria": "ORPHA:90035", "Donath-Landsteiner hemolytic anemia": "ORPHA:90035", "Donath-Landsteiner syndrome": "ORPHA:90035", "PCH": "ORPHA:98523", "Isolated stationary inherited retinal disorder": "ORPHA:519319", "Rare retinal vasculopathy": "ORPHA:519317", "Mixed-type autoimmune hemolytic anemia": "ORPHA:90036", "Mixed AIHA": "ORPHA:90036", "Rare retinal disorder": "ORPHA:519315", "Non-spherocytic hemolytic anemia due to hexokinase deficiency": "ORPHA:90031", "Rare macular disorder": "ORPHA:519313", "Autoimmune hemolytic anemia, warm type": "ORPHA:90033", "Warm AIHA": "ORPHA:90033", "wAHA": "ORPHA:90033", "wAIHA": "ORPHA:90033", "Rare disorder of the posterior segment of the eye": "ORPHA:519311", "Primary erythromelalgia": "ORPHA:90026", "Primary erythermalgia": "ORPHA:90026", "Rare choroidal disorder": "ORPHA:519309", "Hemolytic anemia due to glutathione reductase deficiency": "ORPHA:90030", "X-linked hypophosphatemia": "ORPHA:89936", "X-linked hypophosphatemic rickets": "ORPHA:89936", "XLH": "ORPHA:89936", "Structural developmental eye defect": "ORPHA:519272", "Syndromic lacrimal system disorder": "ORPHA:519274", "OBSOLETE: Idiopathic hydrops fetalis": "ORPHA:89845", "Rare disorder with ectropion": "ORPHA:519268", "Lissencephaly syndrome, Norman-Roberts type": "ORPHA:89844", "Microlissencephaly type A": "ORPHA:89844", "Rare disorder with entropion": "ORPHA:519270", "Dystrophic epidermolysis bullosa pruriginosa": "ORPHA:89843", "DEB pruriginosa": "ORPHA:89843", "DEB-Pr": "ORPHA:89843", "Pruriginous dystrophic epidermolysis bullosa": "ORPHA:89843", "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form": "ORPHA:89842", "Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis": "ORPHA:89842", "Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type": "ORPHA:89842", "Generalized RDEB, intermediate form": "ORPHA:89842", "RDEB, non-Hallopeau-Siemens type": "ORPHA:89842", "Inflammatory/autoimmune disorder involving the lacrimal system": "ORPHA:519264", "Rare disorder of the ocular adnexa": "ORPHA:519266", "OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa": "ORPHA:89841", "OBSOLETE: Centripetal dystrophic epidermolysis bullosa": "ORPHA:89841", "OBSOLETE: Centripetal recessive dystrophic epidermolysis bullosa": "ORPHA:89841", "OBSOLETE: RDEB, centripetalis": "ORPHA:89841", "OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type": "ORPHA:89840", "OBSOLETE: JEN-nH": "ORPHA:89840", "OBSOLETE: Epidermolysis bullosa simplex superficialis": "ORPHA:89839", "OBSOLETE: EBSS": "ORPHA:89839", "X-linked cone dysfunction syndrome with myopia": "ORPHA:90001", "Bornholm eye disease": "ORPHA:90001", "Rare disorder with corneal involvement as a major feature": "ORPHA:519288", "Rare inflammatory/autoimmune corneal disorder": "ORPHA:519290", "Erythema elevatum diutinum": "ORPHA:90000", "Rare disorder of the anterior segment of the eye": "ORPHA:519284", "Rare disorder of the pupil": "ORPHA:519286", "Rare conjunctivitis": "ORPHA:519280", "Rare corneal disorder": "ORPHA:519282", "NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis": "ORPHA:89939", "NON RARE IN EUROPE: Renal tubular acidosis type 4": "ORPHA:89939", "Anterior segment developmental abnormality with extraocular manifestations": "ORPHA:519276", "Bartter syndrome type 4": "ORPHA:89938", "Bartter syndrome type IV": "ORPHA:89938", "Bartter syndrome with sensorineural deafness": "ORPHA:89938", "Bartter syndrome with sensorineural hearing loss": "ORPHA:89938", "Autosomal dominant hypophosphatemic rickets": "ORPHA:89937", "ADHR": "ORPHA:89937", "Autosomal dominant hypophosphatemia": "ORPHA:89937", "Infective keratitis": "ORPHA:519278", "Margarita island ectodermal dysplasia": "ORPHA:90338", "OBSOLETE: Rosselli-Gulienetti syndrome": "ORPHA:90339", "Blau syndrome": "ORPHA:90340", "Early-onset sarcoidosis": "ORPHA:90341", "Xeroderma pigmentosum variant": "ORPHA:90342", "XPV": "ORPHA:90342", "OBSOLETE: Unclassified metaphyseal chondrodysplasia": "ORPHA:90345", "Autosomal dominant cutis laxa": "ORPHA:90348", "ADCL": "ORPHA:90348", "Autosomal recessive cutis laxa type 1": "ORPHA:90349", "ARCL1": "ORPHA:90349", "Autosomal recessive cutis laxa with severe systemic involvement": "ORPHA:90349", "Autosomal recessive cutis laxa, pulmonary emphysema type": "ORPHA:90349", "Autosomal recessive cutis laxa type 2": "ORPHA:90350", "ARCL2": "ORPHA:90350", "Cutis laxa with joint laxity and developmental delay": "ORPHA:90350", "Brittle cornea syndrome": "ORPHA:90354", "Ehlers-Danlos syndrome type 6B": "ORPHA:90354", "Primary intestinal lymphangiectasia": "ORPHA:90362", "Waldmann disease": "ORPHA:90362", "Secondary intestinal lymphangiectasia": "ORPHA:90363", "CREST syndrome": "ORPHA:90290", "Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome": "ORPHA:90290", "Localized scleroderma": "ORPHA:90289", "Localized fibrosing scleroderma": "ORPHA:90289", "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome": "ORPHA:90301", "Systemic sclerosis": "ORPHA:90291", "Systemic scleroderma": "ORPHA:90291", "Klippel-Tr\u00e9naunay syndrome": "ORPHA:90308", "Parkes Weber syndrome": "ORPHA:90307", "OBSOLETE: Ehlers-Danlos syndrome type 2": "ORPHA:90318", "OBSOLETE: EDS II": "ORPHA:90318", "OBSOLETE: Ehlers-Danlos syndrome type 1": "ORPHA:90309", "OBSOLETE: EDS I": "ORPHA:90309", "Cockayne syndrome type 2": "ORPHA:90322", "Cockayne syndrome type II": "ORPHA:90322", "Cockayne syndrome type 1": "ORPHA:90321", "Cockayne syndrome type I": "ORPHA:90321", "Cockayne syndrome type 3": "ORPHA:90324", "Cockayne syndrome type III": "ORPHA:90324", "Centrifugal lipodystrophy": "ORPHA:90156", "Lipodystrophia centrifugalis abdominalis infantilis": "ORPHA:90156", "Drug-induced localized lipodystrophy": "ORPHA:90157", "Lipoatrophy caused by injected drug": "ORPHA:90157", "Mandibuloacral dysplasia with type A lipodystrophy": "ORPHA:90153", "MADA": "ORPHA:90153", "Mandibuloacral dysplasia with type B lipodystrophy": "ORPHA:90154", "Pressure-induced localized lipoatrophy": "ORPHA:90160", "Lipoatrophia semicircularis": "ORPHA:90160", "Semicircular lipoatrophy": "ORPHA:90160", "Idiopathic localized lipodystrophy": "ORPHA:90158", "Panniculitis-induced localized lipodystrophy": "ORPHA:90159", "Chilblain lupus": "ORPHA:90280", "Discoid lupus erythematosus": "ORPHA:90281", "Non-hereditary late-onset primary lymphedema": "ORPHA:90185", "Meige-like disease": "ORPHA:90185", "Meige disease": "ORPHA:90186", "Hereditary lymphedema type II": "ORPHA:90186", "Meige lymphedema": "ORPHA:90186", "Lupus erythematosus panniculitis": "ORPHA:90285", "Lupus erythematosus profundus": "ORPHA:90285", "OBSOLETE: Maculopapular lupus rash": "ORPHA:90287", "Hypertrophic or verrucous lupus erythematosus": "ORPHA:90282", "Lupus erythematosus tumidus": "ORPHA:90283", "Intermittent cutaneous lupus": "ORPHA:90283", "Scarring in glaucoma filtration surgical procedures": "ORPHA:90080", "OBSOLETE: Anthracycline extravasation": "ORPHA:90079", "Invasive infections due to vancomycin-resistant enterococci": "ORPHA:90078", "Invasive infections due to VRE": "ORPHA:90078", "Other acquired skin disease": "ORPHA:90077", "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome": "ORPHA:90103", "CMT-deafness-intellectual disability syndrome": "ORPHA:90103", "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome": "ORPHA:90103", "Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers": "ORPHA:90103", "Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers": "ORPHA:90103", "ATP13A2-related parkinsonism": "ORPHA:514980", "AIDS wasting syndrome": "ORPHA:90081", "Severe early-onset axonal neuropathy due to MFN2 deficiency": "ORPHA:90118", "AR-CMT2, Ouvrier type": "ORPHA:90118", "Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type": "ORPHA:90118", "SEOAN due to MFN2 deficiency": "ORPHA:90118", "Hereditary motor and sensory neuropathy, Okinawa type": "ORPHA:90117", "HMSNP": "ORPHA:90117", "Hereditary motor and sensory neuropathy, proximal type": "ORPHA:90117", "Autosomal dominant intermediate Charcot-Marie-Tooth disease": "ORPHA:90114", "CMTDI": "ORPHA:90114", "Hereditary motor and sensory neuropathy type 6": "ORPHA:90120", "CMT6": "ORPHA:90120", "Charcot-Marie-Tooth disease type 6": "ORPHA:90120", "HMSN 6": "ORPHA:90120", "HMSN VI": "ORPHA:90120", "Hereditary motor and sensory neuropathy type VI": "ORPHA:90120", "Peripheral neuropathy and optic atrophy": "ORPHA:90120", "Hereditary motor and sensory neuropathy with acrodystrophy": "ORPHA:90119", "AR-CMT2 with acrodystrophy": "ORPHA:90119", "Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy": "ORPHA:90119", "Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy": "ORPHA:90119", "HMSN with acrodystrophy": "ORPHA:90119", "Genetic congenital malformation of the eye with glaucoma as a major feature": "ORPHA:525677", "Pediatric-onset Graves disease": "ORPHA:525731", "Pediatric-onset Basedow disease": "ORPHA:525731", "Prepubertal anorexia nervosa": "ORPHA:525738", "Rare genetic choroidal disorder": "ORPHA:522584", "Pediatric-onset glaucoma": "ORPHA:523000", "Rare genetic macular disorder": "ORPHA:522574", "Rare genetic retinal vasculopathy": "ORPHA:522576", "Hepatocellular carcinoma": "ORPHA:88673", "HCC": "ORPHA:88673", "Rare genetic disorder involving multiple structures of the eye": "ORPHA:522578", "Secondary early-onset glaucoma of genetic origin": "ORPHA:522580", "Rare genetic disorder of the pupil": "ORPHA:522568", "Autosomal recessive ataxia, Beauce type": "ORPHA:88644", "ARCA1": "ORPHA:88644", "Autosomal recessive cerebellar ataxia type 1": "ORPHA:88644", "SCAR8": "ORPHA:88644", "Rare genetic inflammatory/autoimmune corneal disorder": "ORPHA:522566", "Autosomal dominant progressive nephropathy with hypertension": "ORPHA:88659", "Rare genetic retinal disorder": "ORPHA:522572", "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor": "ORPHA:88660", "Early-onset hypertension with exacerbation in pregnancy": "ORPHA:88660", "Pseudohyperaldosteronism type 2": "ORPHA:88660", "Rare genetic disorder of the posterior segment of the eye": "ORPHA:522570", "Amelogenesis imperfecta": "ORPHA:88661", "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome": "ORPHA:88637", "4H syndrome": "ORPHA:88637", "Genetic corneal dystrophy": "ORPHA:522560", "Rare genetic disorder with corneal involvement as a major feature": "ORPHA:522558", "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency": "ORPHA:88639", "HIBCH deficiency": "ORPHA:88639", "Methacrylic aciduria": "ORPHA:88639", "Valine metabolic defect": "ORPHA:88639", "Syndromic genetic keratoconus": "ORPHA:522564", "Congenital insensitivity to pain-anosmia-neuropathic arthropathy": "ORPHA:88642", "SCN9A-related congenital insensitivity to pain": "ORPHA:88642", "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome": "ORPHA:88643", "Genetic superficial corneal dystrophy": "ORPHA:522562", "Anterior segment developmental anomaly": "ORPHA:88632", "Anterior segment dysgenesis": "ORPHA:88632", "Lens position anomaly of genetic origin": "ORPHA:522552", "Superior limbic keratoconjunctivitis": "ORPHA:88633", "SLK": "ORPHA:88633", "Theodore superior limbic keratoconjunctivitis": "ORPHA:88633", "Theodore syndrome": "ORPHA:88633", "Lens size anomaly of genetic origin": "ORPHA:522550", "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates": "ORPHA:88635", "Myopathy due to calsequestrin and SERCA1 protein overload": "ORPHA:88635", "Vacuolar aggregate myopathy": "ORPHA:88635", "Rare genetic corneal disorder": "ORPHA:522556", "Syndromic genetic ectopia lentis": "ORPHA:522554", "Aortic dilatation-joint hypermobility-arterial tortuosity syndrome": "ORPHA:88636", "OBSOLETE: Rare genetic conjunctivitis": "ORPHA:522544", "Ichthyosis-prematurity syndrome": "ORPHA:88621", "Congenital ichthyosis type 4": "ORPHA:88621", "IPS": "ORPHA:88621", "Rare genetic disorder with conjunctival involvement as a major feature": "ORPHA:522542", "Posterior column ataxia-retinitis pigmentosa syndrome": "ORPHA:88628", "Autosomal recessive posterior column ataxia and retinitis pigmentosa": "ORPHA:88628", "PCARP": "ORPHA:88628", "Tritanopia": "ORPHA:88629", "Blue colour blindness": "ORPHA:88629", "Congenital tritanopia": "ORPHA:88629", "Tritan colour blindness": "ORPHA:88629", "Syndromic genetic cataract": "ORPHA:522548", "Terminal osseous dysplasia-pigmentary defects syndrome": "ORPHA:88630", "Rare genetic disorder with lens opacification": "ORPHA:522546", "Rare genetic disorder of the anterior segment of the eye": "ORPHA:522538", "Isolated congenital anosmia": "ORPHA:88620", "Anterior segment developmental anomaly of genetic origin": "ORPHA:522540", "Familial acute necrotizing encephalopathy": "ORPHA:88619", "ADANE": "ORPHA:88619", "Recurrent acute necrotizing encephalopathy": "ORPHA:88619", "S-adenosylhomocysteine hydrolase deficiency": "ORPHA:88618", "Lacrimal drainage system anomaly of genetic origin": "ORPHA:522534", "Structural developmental eye defect of genetic origin": "ORPHA:522536", "Autosomal recessive non-syndromic intellectual disability": "ORPHA:88616", "AR-NSID": "ORPHA:88616", "NS-ARID": "ORPHA:88616", "Rare genetic disorder with entropion": "ORPHA:522530", "Rare genetic disorder of the lacrimal apparatus": "ORPHA:522532", "Non-syndromic genetic deafness": "ORPHA:87884", "Isolated genetic deafness": "ORPHA:87884", "Isolated genetic hearing loss": "ORPHA:87884", "Non-syndromic genetic hearing loss": "ORPHA:87884", "Sialidosis type 2": "ORPHA:87876", "Infantile dysmorphic sialidosis": "ORPHA:87876", "Rare genetic palpebral disorder": "ORPHA:522526", "Rare genetic eyelid malposition disorder": "ORPHA:522528", "Mal de Meleda": "ORPHA:87503", "Keratosis palmoplantaris transgrediens of Siemens": "ORPHA:87503", "Meleda disease": "ORPHA:87503", "Transgrediens palmoplantar keratoderma of Siemens": "ORPHA:87503", "Rare genetic neuromuscular disorder with ocular motility/alignment anomaly": "ORPHA:522522", "Rare intellectual disability": "ORPHA:87277", "Rare genetic disorder of the ocular adnexa": "ORPHA:522524", "Rare genetic disorder with strabismus": "ORPHA:522518", "Syndromic genetic disorder with strabismus": "ORPHA:522520", "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type": "ORPHA:86923", "Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type": "ORPHA:86923", "PPK, Gamborg-Nielsen type": "ORPHA:86923", "Congenital optic disc excavation of genetic origin": "ORPHA:522514", "Rare genetic ocular motility/alignment disorder": "ORPHA:522516", "Rare genetic ophthalmic disorder with cranial nerve involvement": "ORPHA:522510", "Dermatopathia pigmentosa reticularis": "ORPHA:86920", "Rare genetic optic nerve disorder": "ORPHA:522512", "Keratosis palmaris et plantaris-clinodactyly syndrome": "ORPHA:86919", "Palmoplantar keratoderma-clinodactyly syndrome": "ORPHA:86919", "Rare genetic ophthalmic disorder with cortical involvement": "ORPHA:522508", "OBSOLETE: Lymphedema-cleft palate syndrome": "ORPHA:86917", "Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature": "ORPHA:522506", "Diffuse palmoplantar keratoderma-acrocyanosis syndrome": "ORPHA:86918", "Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome": "ORPHA:86918", "Rare genetic disorder of the visual organs": "ORPHA:522504", "Lymphedema-atrial septal defects-facial changes syndrome": "ORPHA:86915", "Irons-Bhan syndrome": "ORPHA:86915", "Irons-Bianchi syndrome": "ORPHA:86915", "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome": "ORPHA:522077", "BAGOS": "ORPHA:522077", "Baker-Gordon syndrome": "ORPHA:522077", "SYT1-related neurodevelopmental disorder": "ORPHA:522077", "Syndromic autoimmune enteropathy": "ORPHA:522043", "Myoclonic epilepsy in non-progressive encephalopathies": "ORPHA:86913", "Myoclonic status in non-progressive encephalopathies": "ORPHA:86913", "Myoclonus epilepsy in non-progressive encephalopathies": "ORPHA:86913", "Primary autoimmune enteropathy": "ORPHA:522037", "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome": "ORPHA:86914", "Myoclonic epilepsy of infancy": "ORPHA:86909", "Benign myoclonic epilepsy of infancy": "ORPHA:86909", "Benign myoclonus epilepsy of infancy": "ORPHA:86909", "Epilepsy with myoclonic absences": "ORPHA:86911", "Hypothalamic hamartomas with gelastic seizures": "ORPHA:86906", "Hemiconvulsion-hemiplegia-epilepsy syndrome": "ORPHA:86908", "HHE": "ORPHA:86908", "HHE syndrome": "ORPHA:86908", "IHHS": "ORPHA:86908", "Dendritic cell sarcoma not otherwise specified": "ORPHA:86903", "LAMA5-related multisystemic syndrome": "ORPHA:521450", "Methotrexate-associated lymphoproliferative disorders": "ORPHA:86904", "MTX-LPD": "ORPHA:86904", "MTX-associated lymphoproliferative disorders": "ORPHA:86904", "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome": "ORPHA:521445", "Congenital vertebral-cardiac-renal anomalies syndrome": "ORPHA:521438", "Congenital NAD deficiency disorder": "ORPHA:521438", "Interdigitating dendritic cell sarcoma": "ORPHA:86900", "Interdigitating cell sarcoma": "ORPHA:86900", "Reticulum cell sarcoma": "ORPHA:86900", "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome": "ORPHA:521432", "Follicular dendritic cell sarcoma": "ORPHA:86902", "PLAA-associated neurodevelopmental disorder": "ORPHA:521426", "PLAAND": "ORPHA:521426", "Histiocytic sarcoma": "ORPHA:86896", "Autosomal dominant Charcot-Marie-Tooth disease type 2DD": "ORPHA:521414", "ATP1A1-related CMT2": "ORPHA:521414", "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2": "ORPHA:521414", "CMT2DD": "ORPHA:521414", "Langerhans cell sarcoma": "ORPHA:86897", "Xq25 microduplication syndrome": "ORPHA:521258", "Dup(X)(q25)": "ORPHA:521258", "Xq25 microtriplication": "ORPHA:521258", "OBSOLETE: Syndromic lymphedema": "ORPHA:89832", "Rare skin disease": "ORPHA:89826", "OBSOLETE: SLC5A6-CDG": "ORPHA:521268", "OBSOLETE: SLC5A6-related congenital disorder of glycosylation": "ORPHA:521268", "Proximal myopathy with focal depletion of mitochondria": "ORPHA:521305", "Palmoplantar keratoderma with tonotubular keratin": "ORPHA:89833", "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome": "ORPHA:521308", "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome": "ORPHA:521390", "SINO syndrome": "ORPHA:521390", "NON RARE IN EUROPE: Non rare obesity": "ORPHA:521399", "Dystonia-parkinsonism-hypermanganesemia syndrome": "ORPHA:521406", "Autosomal recessive generalized epidermolysis bullosa simplex": "ORPHA:89838", "Autosomal recessive generalized EBS": "ORPHA:89838", "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect": "ORPHA:521411", "Autosomal recessive axonal CMT due to copper metabolism defect": "ORPHA:521411", "Progressive external ophthalmoplegia": "ORPHA:520820", "Radiation-induced plexopathy": "ORPHA:521123", "Osteoradionecrosis of the mandible": "ORPHA:521127", "Radiation-induced disorder": "ORPHA:521132", "Mirizzi syndrome": "ORPHA:521219", "Extrinsic biliary compression syndrome": "ORPHA:521219", "Rare dementia": "ORPHA:89043", "Genetic primary orthostatic disorder": "ORPHA:521232", "Primary orthostatic disorder": "ORPHA:521236", "MUC1-related autosomal dominant tubulointerstitial kidney disease": "ORPHA:88949", "ADTKD-MUC1": "ORPHA:88949", "MCKD1": "ORPHA:88949", "MUC1-related medullary cystic kidney disease": "ORPHA:88949", "MUCI-related ADTKD": "ORPHA:88949", "Medullary cystic kidney disease type 1": "ORPHA:88949", "UMOD-related autosomal dominant tubulointerstitial kidney disease": "ORPHA:88950", "ADTKD-UMOD": "ORPHA:88950", "Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation": "ORPHA:88950", "Familial juvenile hyperuricemic nephropathy type 1": "ORPHA:88950", "MCKD2": "ORPHA:88950", "Medullary cystic kidney disease type 2": "ORPHA:88950", "UAKD": "ORPHA:88950", "UMOD kidney disease": "ORPHA:88950", "UMOD-related ADTKD": "ORPHA:88950", "Uromodulin-associated kidney disease": "ORPHA:88950", "Rare congenital non-syndromic heart malformation": "ORPHA:88991", "Esophageal malformation": "ORPHA:88993", "Isolated inherited retinal disorder": "ORPHA:520817", "Rare disorder of the visual organs": "ORPHA:520814", "Pseudohypoaldosteronism type 2C": "ORPHA:88940", "PHA2C": "ORPHA:88940", "Pseudohypoaldosteronism type 2B": "ORPHA:88939", "PHA2B": "ORPHA:88939", "Fungal keratitis": "ORPHA:519930", "Keratomycosis": "ORPHA:519930", "Mycotic keratitis": "ORPHA:519930", "Pseudohypoaldosteronism type 2A": "ORPHA:88938", "PHA2A": "ORPHA:88938", "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis": "ORPHA:88924", "PKDTS": "ORPHA:88924", "TSC2/PKD1 contiguous gene syndrome": "ORPHA:88924", "Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome": "ORPHA:88924", "Autosomal dominant Alport syndrome": "ORPHA:88918", "Autosomal recessive Alport syndrome": "ORPHA:88919", "X-linked Alport syndrome": "ORPHA:88917", "Fragile X-associated tremor/ataxia syndrome": "ORPHA:93256", "FXTAS syndrome": "ORPHA:93256", "Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome": "ORPHA:528105", "HELIX syndrome": "ORPHA:528105", "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation": "ORPHA:93222", "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes": "ORPHA:93221", "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome": "ORPHA:528091", "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis": "ORPHA:93220", "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis": "ORPHA:93218", "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis": "ORPHA:93218", "Non-specific syndromic intellectual disability": "ORPHA:528084", "Complex neurodevelopmental disorder": "ORPHA:528084", "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis": "ORPHA:93217", "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes": "ORPHA:93216", "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation": "ORPHA:93214", "Crouzon syndrome-acanthosis nigricans syndrome": "ORPHA:93262", "Crouzon-dermoskeletal syndrome": "ORPHA:93262", "Pfeiffer syndrome type 3": "ORPHA:93260", "Pfeiffer syndrome type 2": "ORPHA:93259", "Pfeiffer syndrome type 1": "ORPHA:93258", "Classic Pfeiffer syndrome": "ORPHA:93258", "Short rib-polydactyly syndrome, Verma-Naumoff type": "ORPHA:93271", "Short rib-polydactyly syndrome type 3": "ORPHA:93271", "Short rib-polydactyly syndrome, Majewski type": "ORPHA:93269", "Short rib-polydactyly syndrome type 2": "ORPHA:93269", "Short rib-polydactyly syndrome, Saldino-Noonan type": "ORPHA:93270", "Short rib-polydactyly syndrome type 1": "ORPHA:93270", "Cloverleaf skull-multiple congenital anomalies syndrome": "ORPHA:93267", "Short rib-polydactyly syndrome, Beemer-Langer type": "ORPHA:93268", "Short rib-polydactyly syndrome type 4": "ORPHA:93268", "Spondyloepimetaphyseal dysplasia, PAPSS2 type": "ORPHA:93282", "Spondyloepimetaphyseal dysplasia, Pakistani type": "ORPHA:93282", "Spondyloepiphyseal dysplasia, Kimberley type": "ORPHA:93283", "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis": "ORPHA:93279", "Spondyloepiphyseal dysplasia, Omani type": "ORPHA:93280", "Polyostotic fibrous dysplasia": "ORPHA:93276", "Monostotic fibrous dysplasia": "ORPHA:93277", "Jaffe-Lichtenstein disease": "ORPHA:93277", "Thanatophoric dysplasia type 2": "ORPHA:93274", "Cloverleaf skull-micromelic bone dysplasia syndrome": "ORPHA:93274", "TD2": "ORPHA:93274", "Thanatophoric dwarfism type 2": "ORPHA:93274", "Thanatophoric dwarfism-cloverleaf skull syndrome": "ORPHA:93274", "Thanatophoric dysplasia, Glasgow variant": "ORPHA:93275", "Renal dysplasia": "ORPHA:93108", "Kidney dysplasia": "ORPHA:93108", "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy": "ORPHA:527497", "Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia": "ORPHA:527497", "SPAX8": "ORPHA:527497", "Renal hypoplasia": "ORPHA:93101", "Posterior urethral valve": "ORPHA:93110", "PUV": "ORPHA:93110", "Congenital megacalycosis": "ORPHA:93109", "Severe myopia-generalized joint laxity-short stature syndrome": "ORPHA:527450", "Relapsing fever": "ORPHA:91547", "Renal agenesis, unilateral": "ORPHA:93100", "Diaphragmatic hernia-short bowel-asplenia syndrome": "ORPHA:527468", "Congenital tufting enteropathy": "ORPHA:92050", "IED": "ORPHA:92050", "Intestinal epithelial dysplasia": "ORPHA:92050", "Non-syndromic congenital tufting enteropathy": "ORPHA:92050", "Hypocalcemic vitamin D-resistant rickets": "ORPHA:93160", "HVDRR": "ORPHA:93160", "Hereditary vitamin D-resistant rickets": "ORPHA:93160", "VDDR II": "ORPHA:93160", "VDRR II": "ORPHA:93160", "Vitamin D-dependent rickets type II": "ORPHA:93160", "Vitamin D-resistant rickets type II": "ORPHA:93160", "Transient pseudohypoaldosteronism": "ORPHA:93164", "Secondary pseudohypoaldosteronism": "ORPHA:93164", "TPHA": "ORPHA:93164", "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E": "ORPHA:93114", "CMTDIE": "ORPHA:93114", "Charcot-Marie-Tooth disease-nephropathy syndrome": "ORPHA:93114", "HNF1B-related autosomal dominant tubulointerstitial kidney disease": "ORPHA:93111", "ADTKD-HNF1B": "ORPHA:93111", "HNF1B-MODY": "ORPHA:93111", "HNF1B-related nephropathy": "ORPHA:93111", "MODY5": "ORPHA:93111", "Maturity-onset diabetes of the young type 5": "ORPHA:93111", "RCAD syndrome": "ORPHA:93111", "Renal cysts and diabetes syndrome": "ORPHA:93111", "Renal dysfunction-early-onset diabetes syndrome": "ORPHA:93111", "Pauci-immune glomerulonephritis": "ORPHA:93126", "Congenital bilateral megacalycosis": "ORPHA:93177", "OBSOLETE: Partial prune belly syndrome": "ORPHA:93178", "Renal dysplasia, unilateral": "ORPHA:93172", "Kidney dysplasia, unilateral": "ORPHA:93172", "Renal dysplasia, bilateral": "ORPHA:93173", "Kidney dysplasia, bilateral": "ORPHA:93173", "Unilateral congenital megacalycosis": "ORPHA:93176", "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change": "ORPHA:93207", "OBSOLETE: Steroid-sensitive MCNS": "ORPHA:93207", "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation": "ORPHA:93209", "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis": "ORPHA:93213", "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis": "ORPHA:93213", "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis": "ORPHA:93206", "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis": "ORPHA:93206", "Isolated tibial hemimelia": "ORPHA:93322", "Isolated congenital absence of tibia": "ORPHA:93322", "Isolated congenital aplasia and dysplasia of the tibia with intact fibula": "ORPHA:93322", "Isolated congenital longitudinal deficiency of the tibia": "ORPHA:93322", "Isolated tibial longitudinal meromelia": "ORPHA:93322", "Isolated radial hemimelia": "ORPHA:93321", "Isolated congenital longitudinal deficiency of the radius": "ORPHA:93321", "Isolated radial club hand": "ORPHA:93321", "Isolated radial longitidinal meromelia": "ORPHA:93321", "Isolated radial ray agenesis": "ORPHA:93321", "Isolated ulnar hemimelia": "ORPHA:93320", "Isolated congenital longitudinal deficiency of the ulna": "ORPHA:93320", "Isolated ulnar clubhand": "ORPHA:93320", "Isolated ulnar deficiency of forearm": "ORPHA:93320", "Isolated ulnar longitudinal meromelia": "ORPHA:93320", "Autosomal dominant Kenny-Caffey syndrome": "ORPHA:93325", "Autosomal recessive Kenny-Caffey syndrome": "ORPHA:93324", "Isolated fibular hemimelia": "ORPHA:93323", "Isolated congenital longitudinal deficiency of the fibula": "ORPHA:93323", "Isolated fibular deficiency": "ORPHA:93323", "Isolated fibular longitudinal meromelia": "ORPHA:93323", "Autosomal recessive omodysplasia": "ORPHA:93329", "Micromelic dysplasia-dislocation of radius syndrome": "ORPHA:93329", "Autosomal dominant omodysplasia": "ORPHA:93328", "Polydactyly of a triphalangeal thumb": "ORPHA:93336", "PPD2": "ORPHA:93336", "Preaxial polydactyly type 2": "ORPHA:93336", "Postaxial polydactyly type B": "ORPHA:93335", "Postaxial polydactyly type A": "ORPHA:93334", "Pelviscapular dysplasia": "ORPHA:93333", "Cousin syndrome": "ORPHA:93333", "Familial pelvis-scapular dysplasia": "ORPHA:93333", "Polydactyly of a biphalangeal thumb and/or hallux": "ORPHA:93339", "PPD1": "ORPHA:93339", "Preaxial polydactyly type 1": "ORPHA:93339", "Polydactyly of an index finger": "ORPHA:93337", "PPD3": "ORPHA:93337", "Preaxial polydactyly type 3": "ORPHA:93337", "Encephalopathy due to mitochondrial and peroxisomal fission defect": "ORPHA:527276", "Polysyndactyly": "ORPHA:93338", "PPD4": "ORPHA:93338", "Preaxial polydactyly type 4": "ORPHA:93338", "X-linked spondyloepimetaphyseal dysplasia": "ORPHA:93349", "Spondyloepimetaphyseal dysplasia congenita, Strudwick type": "ORPHA:93346", "Anauxetic dysplasia": "ORPHA:93347", "Spondyloepimetaphyseal dysplasia, Menger type": "ORPHA:93347", "Spondyloepimetaphyseal dysplasia, anauxetic type": "ORPHA:93347", "Spondyloepimetaphyseal dysplasia, Missouri type": "ORPHA:93356", "SEMD type 2": "ORPHA:93356", "SEMD, Missouri type": "ORPHA:93356", "Spondyloepimetaphyseal dysplasia type 2": "ORPHA:93356", "Spondyloepimetaphyseal dysplasia, Irapa type": "ORPHA:93351", "SEMD, Irapa type": "ORPHA:93351", "Spondyloepimetaphyseal dysplasia, Shohat type": "ORPHA:93352", "SEMD, Shohat type": "ORPHA:93352", "Spondyloepiphyseal dysplasia tarda": "ORPHA:93284", "Adenoma of pancreas": "ORPHA:93292", "Pancreatic adenoma": "ORPHA:93292", "Okihiro syndrome": "ORPHA:93293", "Duane-radial ray syndrome": "ORPHA:93293", "Achondrogenesis type 2": "ORPHA:93296", "Achondrogenesis, Langer-Saldino type": "ORPHA:93296", "Achondrogenesis type 1B": "ORPHA:93298", "Achondrogenesis, Parenti-Fraccaro type": "ORPHA:93298", "Hypochondrogenesis": "ORPHA:93297", "Achondrogenesis type 1A": "ORPHA:93299", "Achondrogenesis, Houston-Harris type": "ORPHA:93299", "Brachyolmia, Maroteaux type": "ORPHA:93302", "Brachyolmia type 2": "ORPHA:93302", "Brachyolmia type 1, Hobaek type": "ORPHA:93301", "Brachyolmia type 1, Toledo type": "ORPHA:93303", "Autosomal dominant brachyolmia": "ORPHA:93304", "Brachyolmia type 3": "ORPHA:93304", "Multiple epiphyseal dysplasia type 4": "ORPHA:93307", "Autosomal recessive multiple epiphyseal dysplasia": "ORPHA:93307", "EDM4": "ORPHA:93307", "MED4": "ORPHA:93307", "Polyepiphyseal dysplasia type 4": "ORPHA:93307", "rMED": "ORPHA:93307", "Multiple epiphyseal dysplasia type 1": "ORPHA:93308", "EDM1": "ORPHA:93308", "MED1": "ORPHA:93308", "Polyepiphyseal dysplasia type 1": "ORPHA:93308", "Multiple epiphyseal dysplasia type 5": "ORPHA:93311", "BHMED": "ORPHA:93311", "Bilateral hereditary micro-epiphyseal dysplasia": "ORPHA:93311", "EDM5": "ORPHA:93311", "MED5": "ORPHA:93311", "Polyepiphyseal dysplasia type 5": "ORPHA:93311", "OBSOLETE: Multiple epiphyseal dysplasia, unclassified type": "ORPHA:93313", "Spondylometaphyseal dysplasia, Kozlowski type": "ORPHA:93314", "Spondylometaphyseal dysplasia, 'corner fracture' type": "ORPHA:93315", "Spondylometaphyseal dysplasia, Sutcliffe type": "ORPHA:93315", "Spondylometaphyseal dysplasia, Schmidt type": "ORPHA:93316", "Spondylometaphyseal dysplasia with severe genu valgum": "ORPHA:93316", "Spondylometaphyseal dysplasia, Algerian type": "ORPHA:93316", "Spondylometaphyseal dysplasia, Sedaghatian type": "ORPHA:93317", "Rare endocrine growth disease": "ORPHA:90692", "17q24.2 microdeletion syndrome": "ORPHA:529962", "Del(17)(q24)": "ORPHA:529962", "Secondary erythromelalgia": "ORPHA:529864", "Secondary erythermalgia": "ORPHA:529864", "Combined hepatocellular carcinoma and cholangiocarcinoma": "ORPHA:529852", "Combined HCC-CC": "ORPHA:529852", "Combined hepatocellular-cholangiocarcinoma": "ORPHA:529852", "Hepatocholangiocarcinoma": "ORPHA:529852", "cHCC-CC": "ORPHA:529852", "Hypothyroidism due to TSH receptor mutations": "ORPHA:90673", "Isolated thyroid-stimulating hormone deficiency": "ORPHA:90674", "Isolated TSH deficiency": "ORPHA:90674", "Isolated thyrotropin deficiency": "ORPHA:90674", "Letrozole toxicity": "ORPHA:529831", "NON RARE IN EUROPE: Exfoliation syndrome": "ORPHA:529819", "NON RARE IN EUROPE: Pseudoexfoliation syndrome": "ORPHA:529819", "NON RARE IN EUROPE: XFS": "ORPHA:529819", "Chronic bilirubin encephalopathy": "ORPHA:529808", "BIND": "ORPHA:529808", "Bilirubin-induced neurological dysfunction": "ORPHA:529808", "CBE": "ORPHA:529808", "KSD": "ORPHA:529808", "Kernicterus spectrum disorder": "ORPHA:529808", "Charcot-Marie-Tooth disease type 1E": "ORPHA:90658", "CMT1E": "ORPHA:90658", "Charcot-Marie-Tooth disease-deafness syndrome": "ORPHA:90658", "Charcot-Marie-Tooth disease-hearing loss syndrome": "ORPHA:90658", "Acute bilirubin encephalopathy": "ORPHA:529799", "ABE": "ORPHA:529799", "Acute kernicterus": "ORPHA:529799", "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency": "ORPHA:90791", "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency": "ORPHA:90791", "Congenital lipoid adrenal hyperplasia due to STAR deficency": "ORPHA:90790", "CLAH": "ORPHA:90790", "LCAH": "ORPHA:90790", "Lipoid CAH": "ORPHA:90790", "46,XY difference of sex development due to testicular steroidogenesis defect": "ORPHA:90787", "46,XY DSD due to testicular steroidogenesis defect": "ORPHA:90787", "46,XY disorder of sex development due to testicular steroidogenesis defect": "ORPHA:90787", "46,XY difference of sex development due to adrenal and testicular steroidogenesis defect": "ORPHA:90786", "46,XY DSD due to adrenal and testicular steroidogenesis defect": "ORPHA:90786", "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect": "ORPHA:90786", "46,XY difference of sex development due to a testosterone synthesis defect": "ORPHA:90783", "46,XY DSD due to a testosterone synthesis defect": "ORPHA:90783", "46,XY disorder of sex development due to a testosterone synthesis defect": "ORPHA:90783", "46,XX difference of sex development induced by fetal androgens excess": "ORPHA:90776", "46,XX DSD induced by fetal androgens excess": "ORPHA:90776", "46,XX disorder of sex development induced by fetal androgens excess": "ORPHA:90776", "Difference of sex development": "ORPHA:90771", "Disorder of sex development": "ORPHA:90771", "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome": "ORPHA:529980", "NFAT5 haploinsufficiency": "ORPHA:529980", "Dermoid or epidermoid cyst of the central nervous system": "ORPHA:530033", "Dermoid or epidermoid cyst of the CNS": "ORPHA:530033", "Immune dysregulation with inflammatory bowel disease": "ORPHA:529974", "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome": "ORPHA:529977", "Non-acquired panhypopituitarism": "ORPHA:90695", "Genetic panhypopituitarism": "ORPHA:90695", "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome": "ORPHA:529965", "Pilarowski-Bjornsson syndrome": "ORPHA:529965", "Male infertility due to acephalic spermatozoa": "ORPHA:529970", "Acephalic spermatozoa syndrome": "ORPHA:529970", "Scleromyxedema without monoclonal gammopathy": "ORPHA:90400", "Rare X-linked non-syndromic sensorineural deafness type DFN": "ORPHA:90625", "X-linked isolated neurosensory deafness type DFN": "ORPHA:90625", "X-linked isolated neurosensory hearing loss type DFN": "ORPHA:90625", "X-linked isolated sensorineural deafness type DFN": "ORPHA:90625", "X-linked isolated sensorineural hearing loss type DFN": "ORPHA:90625", "X-linked non-syndromic neurosensory deafness type DFN": "ORPHA:90625", "X-linked non-syndromic neurosensory hearing loss type DFN": "ORPHA:90625", "X-linked non-syndromic sensorineural hearing loss type DFN": "ORPHA:90625", "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA": "ORPHA:90635", "Autosomal dominant isolated neurosensory deafness type DFNA": "ORPHA:90635", "Autosomal dominant isolated neurosensory hearing loss type DFNA": "ORPHA:90635", "Autosomal dominant isolated sensorineural deafness type DFNA": "ORPHA:90635", "Autosomal dominant isolated sensorineural hearing loss type DFNA": "ORPHA:90635", "Autosomal dominant non-syndromic neurosensory deafness type DFNA": "ORPHA:90635", "Autosomal dominant non-syndromic neurosensory hearing loss type DFNA": "ORPHA:90635", "Autosomal dominant non-syndromic sensorineural hearing loss type DFNA": "ORPHA:90635", "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB": "ORPHA:90636", "Autosomal recessive isolated neurosensory deafness type DFNB": "ORPHA:90636", "Autosomal recessive isolated neurosensory hearing loss type DFNB": "ORPHA:90636", "Autosomal recessive isolated sensorineural deafness type DFNB": "ORPHA:90636", "Autosomal recessive isolated sensorineural hearing loss type DFNB": "ORPHA:90636", "Autosomal recessive non-syndromic neurosensory deafness type DFNB": "ORPHA:90636", "Autosomal recessive non-syndromic neurosensory hearing loss type DFNB": "ORPHA:90636", "Autosomal recessive non-syndromic sensorineural hearing loss type DFNB": "ORPHA:90636", "Acral persistent papular mucinosis": "ORPHA:90396", "Monoclonal mast cell activation syndrome": "ORPHA:529468", "Monoclonal MCAD": "ORPHA:529468", "Self-healing papular mucinosis": "ORPHA:90397", "Duane retraction syndrome with congenital deafness": "ORPHA:529574", "DRS with deafness": "ORPHA:529574", "DRS with hearing loss": "ORPHA:529574", "DURS with deafness": "ORPHA:529574", "DURS with hearing loss": "ORPHA:529574", "Duane retraction syndrome with congenital hearing loss": "ORPHA:529574", "Localized lichen myxedematosus with mixed features of different subtypes": "ORPHA:90398", "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms": "ORPHA:90399", "Nodular lichen myxedematosus": "ORPHA:90393", "Atypical tuberous myxedema of Jadassohn-Dosseker": "ORPHA:90393", "Discrete papular lichen myxedematosus": "ORPHA:90394", "Papular mucinosis of infancy": "ORPHA:90395", "Cutaneous mucinosis of infancy": "ORPHA:90395", "Hypotrichosis simplex of the scalp": "ORPHA:90368", "Hereditary hypotrichosis simplex of the scalp": "ORPHA:90368", "Telangiectasia macularis eruptiva perstans": "ORPHA:90389", "Anonychia-onychodystrophy syndrome": "ORPHA:90390", "Stickler syndrome type 1": "ORPHA:90653", "Otopalatodigital syndrome type 2": "ORPHA:90652", "OPD II syndrome": "ORPHA:90652", "OPD syndrome 2": "ORPHA:90652", "Stickler syndrome type 2": "ORPHA:90654", "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome": "ORPHA:529665", "GPAA1-related biosynthesis defect": "ORPHA:529665", "Jervell and Lange-Nielsen syndrome": "ORPHA:90647", "Long QT interval-deafness syndrome": "ORPHA:90647", "Long QT interval-hearing loss syndrome": "ORPHA:90647", "Otopalatodigital syndrome type 1": "ORPHA:90650", "OPD I syndrome": "ORPHA:90650", "OPD syndrome 1": "ORPHA:90650", "Taybi syndrome": "ORPHA:90650", "Orofaciodigital syndrome type 7": "ORPHA:90649", "OFD7": "ORPHA:90649", "Oral-facial-digital syndrome type 7": "ORPHA:90649", "Whelan syndrome": "ORPHA:90649", "Deafness-hypogonadism syndrome": "ORPHA:90646", "Hearing loss-hypogonadism syndrome": "ORPHA:90646", "Syndromic genetic deafness": "ORPHA:90642", "Syndromic genetic hearing loss": "ORPHA:90642", "Rare mitochondrial non-syndromic sensorineural deafness": "ORPHA:90641", "Isolated mitochondrial neurosensory deafness": "ORPHA:90641", "Isolated mitochondrial neurosensory hearing loss": "ORPHA:90641", "Isolated mitochondrial sensorineural deafness": "ORPHA:90641", "Isolated mitochondrial sensorineural hearing loss": "ORPHA:90641", "Mitochondrial non-syndromic neurosensory deafness": "ORPHA:90641", "Mitochondrial non-syndromic neurosensory hearing loss": "ORPHA:90641", "Mitochondrial non-syndromic sensorineural hearing loss": "ORPHA:90641", "Familial thoracic aortic aneurysm and aortic dissection": "ORPHA:91387", "Familial TAAD": "ORPHA:91387", "Familial non-syndromic thoracic aortic aneurysm and aortic dissection": "ORPHA:91387", "Isolated cryptophthalmia": "ORPHA:91396", "Hereditary angioedema": "ORPHA:91378", "Familial angioneurotic edema": "ORPHA:91378", "HAE": "ORPHA:91378", "Hereditary angioneurotic edema": "ORPHA:91378", "Hereditary bradykinine-induced angioedema": "ORPHA:91378", "Hereditary non histamine-induced angioedema": "ORPHA:91378", "Acquired angioedema": "ORPHA:91385", "AAE": "ORPHA:91385", "Acquired C1 inhibitor deficiency": "ORPHA:91385", "Acquired angioneurotic edema": "ORPHA:91385", "Acquired bradykinine-induced angioedema": "ORPHA:91385", "Acquired non histamine-induced angioedema": "ORPHA:91385", "Marcus-Gunn syndrome": "ORPHA:91412", "Jaw-winking syndrome": "ORPHA:91412", "Mandibulo-palpebral synkinesis-ptosis syndrome": "ORPHA:91412", "Marcus-Gunn phenomenon": "ORPHA:91412", "Congenital Horner syndrome": "ORPHA:91413", "Congenital Claude-Bernard-Horner syndrome": "ORPHA:91413", "Isolated ankyloblepharon filiforme adnatum": "ORPHA:91397", "Congenital ptosis": "ORPHA:91411", "Duplication of the esophagus": "ORPHA:91357", "Pituitary deficiency due to empty sella turcica syndrome": "ORPHA:91354", "Hypopituitarism due to empty sella turcica syndrome": "ORPHA:91354", "Sheehan syndrome": "ORPHA:91355", "Non-specific interstitial pneumonia": "ORPHA:91364", "NSIP": "ORPHA:91364", "Non-specific idiopathic interstitial pneumonia": "ORPHA:91364", "OBSOLETE: Secondary ciliary dyskinesia": "ORPHA:91365", "OBSOLETE: Acquired ciliary dyskinesia": "ORPHA:91365", "Congenital esophageal diverticulum": "ORPHA:91358", "Congenital esophageal pouch": "ORPHA:91358", "Chronic pneumonitis of infancy": "ORPHA:91359", "CPI": "ORPHA:91359", "Snowflake vitreoretinal degeneration": "ORPHA:91496", "Persistent hyperplastic primary vitreous": "ORPHA:91495", "Congenital retinal detachment": "ORPHA:91495", "NCRNA disease": "ORPHA:91495", "Non-syndromic congenital retinal non-attachment": "ORPHA:91495", "PFVS": "ORPHA:91495", "PHPV": "ORPHA:91495", "Persistent fetal vasculature syndrome": "ORPHA:91495", "Macular coloboma-cleft palate-hallux valgus syndrome": "ORPHA:91494", "Early onset non-syndromic cataract": "ORPHA:91492", "Lyme disease": "ORPHA:91546", "Lyme borreliosis": "ORPHA:91546", "Tubulointerstitial nephritis and uveitis syndrome": "ORPHA:91500", "Dobrin syndrome": "ORPHA:91500", "TINU syndrome": "ORPHA:91500", "Familial congenital palsy of trochlear nerve": "ORPHA:91498", "Ring dermoid of cornea": "ORPHA:91481", "Ring dermoid syndrome": "ORPHA:91481", "Isolated congenital alacrima": "ORPHA:91416", "OBSOLETE: Familial capillary hemangioma": "ORPHA:91415", "Pilomatrixoma": "ORPHA:91414", "Epithelioma calcificans of Malherbe": "ORPHA:91414", "Pilomatricoma": "ORPHA:91414", "Congenital ectropion uveae": "ORPHA:91491", "Isolated congenital sclerocornea": "ORPHA:91490", "Isolated congenital megalocornea": "ORPHA:91489", "Congenital anterior megalophthalmia": "ORPHA:91489", "Rieger anomaly": "ORPHA:91483", "Adenovirus infection in immunocompromised patients": "ORPHA:91127", "OBSOLETE: Graft rejection after lung transplantation": "ORPHA:91128", "Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome": "ORPHA:91129", "Cardiomyopathy-hypotonia-lactic acidosis syndrome": "ORPHA:91130", "DK1-CDG": "ORPHA:91131", "CDG syndrome type Im": "ORPHA:91131", "CDG-Im": "ORPHA:91131", "CDG1M": "ORPHA:91131", "Carbohydrate deficient glycoprotein syndrome type Im": "ORPHA:91131", "Congenital disorder of glycosylation type 1m": "ORPHA:91131", "Congenital disorder of glycosylation type Im": "ORPHA:91131", "Dolichol kinase deficiency": "ORPHA:91131", "Hypotonia and ichthyosis due to dolichol phosphate deficiency": "ORPHA:91131", "Ichthyosis-hypotrichosis syndrome": "ORPHA:91132", "Hypotrichosis-congenital ichthyosis syndrome": "ORPHA:91132", "IFAH syndrome": "ORPHA:91132", "IHS": "ORPHA:91132", "Ichthyosis-follicular atrophoderma-hypotrichosis syndrome": "ORPHA:91132", "Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome": "ORPHA:91132", "OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome": "ORPHA:91133", "OBSOLETE: Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome": "ORPHA:91133", "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency": "ORPHA:90793", "CAH due to 17-alpha-hydroxylase deficiency": "ORPHA:90793", "Combined 17-hydroxylase/17,20-lyase deficiency": "ORPHA:90793", "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency": "ORPHA:90794", "Classic 21-OHD CAH": "ORPHA:90794", "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency": "ORPHA:90795", "CAH due to 11-beta-hydroxylase deficiency": "ORPHA:90795", "CYP11B1 deficiency": "ORPHA:90795", "46,XY difference of sex development due to isolated 17,20-lyase deficiency": "ORPHA:90796", "46,XY disorder of sex development due to isolated 17,20-lyase deficiency": "ORPHA:90796", "Partial androgen insensitivity syndrome": "ORPHA:90797", "PAIS": "ORPHA:90797", "Partial androgen resistance syndrome": "ORPHA:90797", "Primary lipodystrophy": "ORPHA:90970", "Autosomal recessive axonal hereditary motor and sensory neuropathy": "ORPHA:91024", "AR-CMT2": "ORPHA:91024", "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2": "ORPHA:91024", "Other metabolic disease": "ORPHA:91088", "TSH-secreting pituitary adenoma": "ORPHA:91347", "Pituitary thyrotrophic adenoma": "ORPHA:91347", "TSH-oma": "ORPHA:91347", "Thyroid stimulating hormone-secreting pituitary adenoma": "ORPHA:91347", "Thyrotroph adenoma": "ORPHA:91347", "Non-functioning pituitary adenoma": "ORPHA:91349", "NFPA": "ORPHA:91349", "Functioning gonadotropic adenoma": "ORPHA:91348", "Functioning pituitary gonadotropic adenoma": "ORPHA:91348", "Gonadotroph adenoma": "ORPHA:91348", "Pituitary dermoid and epidermoid cysts": "ORPHA:91351", "Pituitary deficiency due to Rathke cleft cysts": "ORPHA:91350", "OBSOLETE: Choristoma": "ORPHA:91353", "Germinoma of the central nervous system": "ORPHA:91352", "Acquired monoclonal Ig light chain-associated Fanconi syndrome": "ORPHA:91136", "Acquired Fanconi syndrome secondary to monoclonal gammopathy": "ORPHA:91136", "Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome": "ORPHA:91136", "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency": "ORPHA:91135", "PXE-like syndrome": "ORPHA:91135", "Pseudoxanthoma elasticum-like syndrome": "ORPHA:91135", "Cryoglobulinemic vasculitis": "ORPHA:91138", "Essential cryoglobulinemia": "ORPHA:91138", "Essential mixed cryoglobulinemia": "ORPHA:91138", "Mixed cryoglobulinemia": "ORPHA:91138", "Primary cryoglobulinemia": "ORPHA:91138", "Immunotactoid or fibrillary glomerulopathy": "ORPHA:91137", "Immunotactoid or fibrillary glomerulonephritis": "ORPHA:91137", "Unspecified juvenile idiopathic arthritis": "ORPHA:91140", "Unspecified JIA": "ORPHA:91140", "Simple cryoglobulinemia": "ORPHA:91139", "Cryoglobulinemia type 1": "ORPHA:91139", "Hereditary angioedema with C1Inh deficiency": "ORPHA:528623", "HAE with C1 inhibitor deficiency": "ORPHA:528623", "HAE with C1Inh deficiency": "ORPHA:528623", "Hereditary angioneurotic edema with C1 inhibitor deficiency": "ORPHA:528623", "Hereditary angioneurotic edema with C1Inh deficiency": "ORPHA:528623", "46,XX difference of sex development induced by maternal-derived androgen": "ORPHA:91144", "46,XX DSD induced by maternal-derived androgen": "ORPHA:91144", "46,XX disorder of sex development induced by maternal-derived androgen": "ORPHA:91144", "Hereditary angioedema with normal C1Inh": "ORPHA:528647", "HAE with normal C1 inhibitor": "ORPHA:528647", "HAE with normal C1Inh": "ORPHA:528647", "Hereditary angioedema with normal C1 inhibitor": "ORPHA:528647", "Hereditary angioneurotic edema with normal C1 inhibitor": "ORPHA:528647", "Hereditary angioneurotic edema with normal C1Inh": "ORPHA:528647", "Acquired angioedema with C1Inh deficiency": "ORPHA:528663", "Acquired angioneurotic edema with C1 inhibitor deficiency": "ORPHA:528663", "Acquired angioneurotic edema with C1Inh deficiency": "ORPHA:528663", "Rare urticaria": "ORPHA:79384", "Unclassified genetic skin disorder": "ORPHA:79385", "Subcutaneous tissue disease": "ORPHA:79382", "OBSOLETE: Lymphedema": "ORPHA:79383", "Mucopolysaccharidosis with skin involvement": "ORPHA:79388", "MPS with skin involvement": "ORPHA:79388", "Premature aging": "ORPHA:79389", "Rare skin tumor or hamartoma": "ORPHA:79386", "Metabolic disease with skin involvement": "ORPHA:79387", "Rare photodermatosis": "ORPHA:79390", "Rare skin photosensitivity": "ORPHA:79390", "Immune deficiency with skin involvement": "ORPHA:79391", "Autosomal dominant generalized epidermolysis bullosa simplex, severe form": "ORPHA:79396", "Autosomal dominant generalized EBS, severe form": "ORPHA:79396", "Epidermolysis bullosa simplex herpetiformis": "ORPHA:79396", "Epidermolysis bullosa simplex, Dowling-Meara type": "ORPHA:79396", "Epidermolysis bullosa simplex with mottled pigmentation": "ORPHA:79397", "EBS with mottled pigmentation": "ORPHA:79397", "EBS-MP": "ORPHA:79397", "Congenital ichthyosiform erythroderma": "ORPHA:79394", "CIE": "ORPHA:79394", "Erythrodermic ichthyosis": "ORPHA:79394", "Non-bullous congenital ichthyosiform erythroderma": "ORPHA:79394", "Keratoderma hereditarium mutilans with ichthyosis": "ORPHA:79395", "Camisa disease": "ORPHA:79395", "Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome": "ORPHA:79395", "Loricrin keratoderma": "ORPHA:79395", "Vohwinkel syndrome with ichthyosis": "ORPHA:79395", "Isolated nail anomaly": "ORPHA:79369", "Nail anomaly": "ORPHA:79368", "Syndromic hair shaft abnormality": "ORPHA:79367", "Isolated hair shaft abnormality": "ORPHA:79366", "Ectodermal dysplasia syndrome": "ORPHA:79373", "Ectodermal dysplasia": "ORPHA:79373", "Sebaceous gland anomaly": "ORPHA:79372", "Syndromic nail anomaly": "ORPHA:79370", "Dermis disorder": "ORPHA:79377", "Hypopigmentation of the skin": "ORPHA:79376", "Hyperpigmentation of the skin": "ORPHA:79375", "Pigmentation anomaly of the skin": "ORPHA:79374", "Other dermis disorder": "ORPHA:79381", "Mixed dermis disorder": "ORPHA:79380", "Skin vascular disease": "ORPHA:79379", "Dermis elastic tissue disorder": "ORPHA:79378", "Woolly hair nevus": "ORPHA:79414", "Wooly hair nevus": "ORPHA:79414", "OBSOLETE: Familial segmental neurofibromatosis": "ORPHA:79428", "OBSOLETE: Familial spinal neurofibromatosis": "ORPHA:79429", "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form": "ORPHA:79399", "Autosomal dominant generalized EBS, intermediate form": "ORPHA:79399", "Epidermolysis bullosa simplex, Koebner type": "ORPHA:79399", "Epidermolysis bullosa simplex, K\u00f6bner type": "ORPHA:79399", "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement": "ORPHA:79401", "PLEC-related intermediate EBS without extracutaneous involvement": "ORPHA:79401", "Localized epidermolysis bullosa simplex": "ORPHA:79400", "EBS-loc": "ORPHA:79400", "Epidermolysis bullosa simplex of palms and soles": "ORPHA:79400", "Epidermolysis bullosa simplex, Weber-Cockayne type": "ORPHA:79400", "Localized EBS": "ORPHA:79400", "Junctional epidermolysis bullosa with pyloric atresia": "ORPHA:79403", "Carmi syndrome": "ORPHA:79403", "JEB with pyloric atresia": "ORPHA:79403", "JEB-PA": "ORPHA:79403", "Intermediate generalized junctional epidermolysis bullosa": "ORPHA:79402", "Generalized atrophic benign epidermolysis bullosa": "ORPHA:79402", "Generalized junctional epidermolysis bullosa, non-Herlitz type": "ORPHA:79402", "Intermediate generalized JEB": "ORPHA:79402", "Junctional epidermolysis bullosa generalisata mitis": "ORPHA:79402", "Junctional epidermolysis bullosa, Disentis type": "ORPHA:79402", "Junctional epidermolysis bullosa inversa": "ORPHA:79405", "JEB inversa": "ORPHA:79405", "JEB-I": "ORPHA:79405", "Severe generalized junctional epidermolysis bullosa": "ORPHA:79404", "Epidermolysis bullosa letalis": "ORPHA:79404", "JEB-H": "ORPHA:79404", "Junctional epidermolysis bullosa generalisata gravis": "ORPHA:79404", "Junctional epidermolysis bullosa, Herlitz type": "ORPHA:79404", "Junctional epidermolysis bullosa, Herlitz-Pearson type": "ORPHA:79404", "Severe generalized JEB": "ORPHA:79404", "Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type": "ORPHA:79407", "DDEB, Cockayne-Touraine type": "ORPHA:79407", "Late-onset junctional epidermolysis bullosa": "ORPHA:79406", "Epidermolysis bullosa progressiva": "ORPHA:79406", "JEB-lo": "ORPHA:79406", "Late-onset JEB": "ORPHA:79406", "Recessive dystrophic epidermolysis bullosa inversa": "ORPHA:79409", "RDEB inversa": "ORPHA:79409", "RDEB-I": "ORPHA:79409", "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form": "ORPHA:79408", "Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis": "ORPHA:79408", "Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type": "ORPHA:79408", "Generalized RDEB, severe form": "ORPHA:79408", "RDEB generalisata gravis": "ORPHA:79408", "RDEB, Hallopeau-Siemens type": "ORPHA:79408", "Severe generalized RDEB": "ORPHA:79408", "Self-improving dystrophic epidermolysis bullosa": "ORPHA:79411", "Self-improving DEB": "ORPHA:79411", "Transient bullous dermolysis of the newborn": "ORPHA:79411", "Localized dystrophic epidermolysis bullosa, pretibial form": "ORPHA:79410", "DEB-Pt": "ORPHA:79410", "Localized DEB, pretibial form": "ORPHA:79410", "Milroy disease": "ORPHA:79452", "Hereditary lymphedema type I": "ORPHA:79452", "Nonne-Milroy lymphedema": "ORPHA:79452", "Non-hereditary congenital primary lymphedema": "ORPHA:79450", "Multiple pterygium syndrome, Aslan type": "ORPHA:79446", "X-linked lethal multiple pterygium syndrome": "ORPHA:79447", "Oley syndrome": "ORPHA:79458", "Congenital hypotrichosis-milia syndrome": "ORPHA:79458", "OBSOLETE: Follicular atrophoderma-basal cell carcinoma": "ORPHA:79459", "Diffuse cutaneous mastocytosis": "ORPHA:79456", "DCM": "ORPHA:79456", "Diffuse cutaneous maculopapulous mastocytosis": "ORPHA:79456", "Maculopapular cutaneous mastocytosis": "ORPHA:79457", "Urticaria pigmentosa": "ORPHA:79457", "Cutaneous mastocytoma": "ORPHA:79455", "Cutaneous local mastocytoma": "ORPHA:79455", "Multiple mastocytoma": "ORPHA:79455", "Solitary mastocytoma": "ORPHA:79455", "Oculocutaneous albinism type 4": "ORPHA:79435", "OCA4": "ORPHA:79435", "Oculocutaneous albinism type 1B": "ORPHA:79434", "OCA1B": "ORPHA:79434", "Oculocutaneous albinism, Amish type": "ORPHA:79434", "Platinum oculocutaneous albinism": "ORPHA:79434", "Yellow oculocutaneous albinism": "ORPHA:79434", "Oculocutaneous albinism type 3": "ORPHA:79433", "OCA3": "ORPHA:79433", "Red oculocutaneous albinism": "ORPHA:79433", "Rufous oculocutaneous albinism": "ORPHA:79433", "Xanthous oculocutaneous albinism": "ORPHA:79433", "Oculocutaneous albinism type 2": "ORPHA:79432", "OCA2": "ORPHA:79432", "Oculocutaneous albinism type 1A": "ORPHA:79431", "OCA1A": "ORPHA:79431", "Tyrosinase-negative oculocutaneous albinism": "ORPHA:79431", "Hermansky-Pudlak syndrome": "ORPHA:79430", "HPS": "ORPHA:79430", "Pseudopseudohypoparathyroidism": "ORPHA:79445", "AHO-PPHP syndrome": "ORPHA:79445", "Albright hereditary osteodystrophy-PPHP syndrome": "ORPHA:79445", "Pseudohypoparathyroidism type 1C": "ORPHA:79444", "Pseudohypoparathyroidism type 1A": "ORPHA:79443", "AHO-PHP syndrome Ia": "ORPHA:79443", "Albright hereditary osteodystrophy-PHP syndrome Ia": "ORPHA:79443", "Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome": "ORPHA:79482", "Akesson syndrome": "ORPHA:79482", "Phakomatosis cesioflammea": "ORPHA:79483", "Phakomatosis pigmentovascularis type 2": "ORPHA:79483", "Phakomatosis cesiomarmorata": "ORPHA:79484", "Phakomatosis pigmentovascularis type 5": "ORPHA:79484", "Phakomatosis spilorosea": "ORPHA:79485", "Phakomatosis pigmentovascularis type 3": "ORPHA:79485", "Griscelli syndrome type 3": "ORPHA:79478", "Griscelli-Pruni\u00e9ras syndrome type 3": "ORPHA:79478", "Pemphigus vegetans": "ORPHA:79479", "Pemphigus erythematosus": "ORPHA:79480", "Seborrheic pemphigus": "ORPHA:79480", "Senear-Usher syndrome": "ORPHA:79480", "Pemphigus foliaceus": "ORPHA:79481", "Microcystic lymphatic malformation": "ORPHA:79490", "Capillary lymphangioma": "ORPHA:79490", "Capillary lymphatic malformation": "ORPHA:79490", "Cutaneous lymphangioma circumscriptum": "ORPHA:79490", "Microcystic infiltrating lymphatic malformation": "ORPHA:79490", "Microcystic lymphangioma": "ORPHA:79490", "Superficial lymphangioma": "ORPHA:79490", "Superficial lymphatic malformation": "ORPHA:79490", "Pili gemini": "ORPHA:79492", "Pili multigemini": "ORPHA:79492", "Brooke-Spiegler syndrome": "ORPHA:79493", "CYLD cutaneous syndrome": "ORPHA:79493", "Cystic hygroma": "ORPHA:79486", "Macrocystic lymphatic malformation": "ORPHA:79489", "Cavernous lymphangioma": "ORPHA:79489", "Cavernous lymphatic malformation": "ORPHA:79489", "Macrocystic lymphangioma": "ORPHA:79489", "Verrucous nevus": "ORPHA:79467", "Inflammatory linear verrucous epidermal nevus": "ORPHA:79466", "ILVEN": "ORPHA:79466", "Acanthokeratolytic verrucous nevus": "ORPHA:79468", "Atypical Werner syndrome": "ORPHA:79474", "Atypical progeroid syndrome": "ORPHA:79474", "Griscelli syndrome type 2": "ORPHA:79477", "Griscelli-Pruni\u00e9ras syndrome type 2": "ORPHA:79477", "Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome": "ORPHA:79477", "Griscelli syndrome type 1": "ORPHA:79476", "Griscelli-Pruni\u00e9ras syndrome type 1": "ORPHA:79476", "Hypopigmentation-neurologic impairment syndrome": "ORPHA:79476", "Variegate porphyria": "ORPHA:79473", "Porphyria variegata": "ORPHA:79473", "Protoporphyrinogen oxidase deficiency": "ORPHA:79473", "OBSOLETE: Juvenile neuronal ceroid lipofuscinosis": "ORPHA:79264", "OBSOLETE: Batten disease": "ORPHA:79264", "OBSOLETE: JNCL": "ORPHA:79264", "OBSOLETE: Juvenile CLN disease": "ORPHA:79264", "OBSOLETE: Juvenile NCL": "ORPHA:79264", "OBSOLETE: Juvenile NCL disease": "ORPHA:79264", "OBSOLETE: Spielmeyer-Vogt disease": "ORPHA:79264", "OBSOLETE: Infantile neuronal ceroid lipofuscinosis": "ORPHA:79263", "OBSOLETE: Hagberg-Santavuori disease": "ORPHA:79263", "OBSOLETE: INCL": "ORPHA:79263", "OBSOLETE: Infantile NCL": "ORPHA:79263", "OBSOLETE: Santavuori disease": "ORPHA:79263", "OBSOLETE: Santavuori-Haltia disease": "ORPHA:79263", "OBSOLETE: Adult neuronal ceroid lipofuscinosis": "ORPHA:79262", "OBSOLETE: ANCL": "ORPHA:79262", "OBSOLETE: Adult CLN disease": "ORPHA:79262", "OBSOLETE: Adult NCL": "ORPHA:79262", "OBSOLETE: Adult NCL disease": "ORPHA:79262", "OBSOLETE: Kufs disease": "ORPHA:79262", "Sanfilippo syndrome type A": "ORPHA:79269", "Heparan sulfamidase deficiency": "ORPHA:79269", "MPS3A": "ORPHA:79269", "MPSIIIA": "ORPHA:79269", "Mucopolysaccharidosis type 3A": "ORPHA:79269", "Mucopolysaccharidosis type IIIA": "ORPHA:79269", "GM1 gangliosidosis type 3": "ORPHA:79257", "Adult-onset GM1 gangliosidosis": "ORPHA:79257", "GM1 gangliosidosis type 2": "ORPHA:79256", "Juvenile GM1 gangliosidosis": "ORPHA:79256", "Late-infantile GM1 gangliosidosis": "ORPHA:79256", "GM1 gangliosidosis type 1": "ORPHA:79255", "Infantile GM1 gangliosidosis": "ORPHA:79255", "Norman-Landing disease": "ORPHA:79255", "Classic phenylketonuria": "ORPHA:79254", "Classic PKU": "ORPHA:79254", "Glycogen storage disease type 1d": "ORPHA:79261", "Type 1D glycogenosis": "ORPHA:79261", "Glycogen storage disease type 1c": "ORPHA:79260", "Type 1C glycogenosis": "ORPHA:79260", "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib": "ORPHA:79259", "G6P deficiency type Ib": "ORPHA:79259", "G6P translocase deficiency": "ORPHA:79259", "G6PT deficiency": "ORPHA:79259", "GSD due to G6P deficiency type 1b": "ORPHA:79259", "GSD due to G6P deficiency type Ib": "ORPHA:79259", "GSD due to G6PT deficiency": "ORPHA:79259", "GSD type 1 non a": "ORPHA:79259", "GSD type 1b": "ORPHA:79259", "GSD type Ib": "ORPHA:79259", "GSDIb": "ORPHA:79259", "Glycogen storage disease due to G6P deficiency type Ib": "ORPHA:79259", "Glycogen storage disease type 1b": "ORPHA:79259", "Glycogen storage disease type Ib": "ORPHA:79259", "Glycogenosis due to glucose-6-phosphatase deficiency type 1b": "ORPHA:79259", "Glycogenosis due to glucose-6-phosphatase transport defect type Ib": "ORPHA:79259", "Glycogenosis type 1b": "ORPHA:79259", "Glycogenosis type Ib": "ORPHA:79259", "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia": "ORPHA:79258", "G6P deficiency type 1a": "ORPHA:79258", "GSD due to G6P deficiency type 1a": "ORPHA:79258", "GSD due to G6P deficiency type Ia": "ORPHA:79258", "GSD type 1a": "ORPHA:79258", "GSDIa": "ORPHA:79258", "Glycogen storage disease due to G6P deficiency type Ia": "ORPHA:79258", "Glycogen storage disease type 1a": "ORPHA:79258", "Glycogenosis due to glucose-6-phosphatase deficiency type 1a": "ORPHA:79258", "Glycogenosis due to glucose-6-phosphatase deficiency type Ia": "ORPHA:79258", "Glycogenosis type Ia": "ORPHA:79258", "Pyruvate dehydrogenase phosphatase deficiency": "ORPHA:79246", "PDH phosphatase deficiency": "ORPHA:79246", "Mild phenylketonuria": "ORPHA:79253", "Mild PKU": "ORPHA:79253", "Variant PKU": "ORPHA:79253", "Variant phenylketonuria": "ORPHA:79253", "mPKU": "ORPHA:79253", "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency": "ORPHA:79240", "GSD due to liver and muscle phosphorylase kinase deficiency": "ORPHA:79240", "GSD type 9B": "ORPHA:79240", "GSD type IXb": "ORPHA:79240", "Glycogen storage disease type 9B": "ORPHA:79240", "Glycogen storage disease type IXb": "ORPHA:79240", "Glycogenosis due to liver and muscle phosphorylase kinase deficiency": "ORPHA:79240", "Glycogenosis type 9B": "ORPHA:79240", "Glycogenosis type IXb": "ORPHA:79240", "Biotinidase deficiency": "ORPHA:79241", "Juvenile-onset multiple carboxylase deficiency": "ORPHA:79241", "Late-onset multiple carboxylase deficiency": "ORPHA:79241", "Galactose epimerase deficiency": "ORPHA:79238", "Epimerase deficiency galactosemia": "ORPHA:79238", "GALE deficiency": "ORPHA:79238", "GALE-D": "ORPHA:79238", "Galactosemia type 3": "ORPHA:79238", "UDP-galactose-4-epimerase deficiency": "ORPHA:79238", "Uridine diphosphate galactose-4-epimerase deficiency": "ORPHA:79238", "Classic galactosemia": "ORPHA:79239", "GALT deficiency": "ORPHA:79239", "Galactose-1-phosphate uridyltransferase deficiency": "ORPHA:79239", "Galactosemia type 1": "ORPHA:79239", "Pyruvate dehydrogenase E2 deficiency": "ORPHA:79244", "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency": "ORPHA:79244", "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency": "ORPHA:79244", "Pyruvate dehydrogenase complex component E2 deficiency": "ORPHA:79244", "Holocarboxylase synthetase deficiency": "ORPHA:79242", "Early-onset multiple carboxylase deficiency": "ORPHA:79242", "Neonatal multiple carboxylase deficiency": "ORPHA:79242", "Pyruvate dehydrogenase E1-alpha deficiency": "ORPHA:79243", "PDHAD": "ORPHA:79243", "Pyruvate decarboxylase deficiency": "ORPHA:79243", "Pyruvate dehydrogenase complex E1 component subunit alpha deficiency": "ORPHA:79243", "Congenital glucokinase-related hyperinsulinism": "ORPHA:79299", "Glucokinase-related hyperinsulinemic hypoglycemia": "ORPHA:79299", "Diazoxide-resistant focal hyperinsulinism": "ORPHA:79298", "Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form": "ORPHA:79298", "Congenital bile acid synthesis defect type 1": "ORPHA:79301", "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency": "ORPHA:79301", "BASD1": "ORPHA:79301", "Niemann-Pick disease type D": "ORPHA:79289", "Niemann-Pick disease, Nova Scotia type": "ORPHA:79289", "Familial LCAT deficiency": "ORPHA:79293", "Complete LCAT deficiency": "ORPHA:79293", "FLD": "ORPHA:79293", "Norum disease": "ORPHA:79293", "Fish-eye disease": "ORPHA:79292", "FED": "ORPHA:79292", "Partial LCAT deficiency": "ORPHA:79292", "Autosomal erythropoietic protoporphyria": "ORPHA:79278", "EPP": "ORPHA:659681", "Alpha-N-acetylgalactosaminidase deficiency type 1": "ORPHA:79279", "NAGA deficiency type 1": "ORPHA:79279", "Schindler disease type 1": "ORPHA:79279", "Alpha-N-acetylgalactosaminidase deficiency type 2": "ORPHA:79280", "Adult-onset Alpha-N-acetylgalactosaminidase deficiency": "ORPHA:79280", "Kanzaki disease": "ORPHA:79280", "NAGA deficiency type 2": "ORPHA:79280", "Schindler disease type 2": "ORPHA:79280", "Alpha-N-acetylgalactosaminidase deficiency type 3": "ORPHA:79281", "NAGA deficiency type 3": "ORPHA:79281", "Schindler disease type 3": "ORPHA:79281", "Methylmalonic acidemia with homocystinuria, type cblC": "ORPHA:79282", "CblC defect": "ORPHA:79282", "Cobalamin C defect": "ORPHA:79282", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC": "ORPHA:79282", "Methylmalonic aciduria with homocystinuria, type cblC": "ORPHA:79282", "Methylmalonic acidemia with homocystinuria, type cblD": "ORPHA:79283", "CblD defect": "ORPHA:79283", "Cobalamin D defect": "ORPHA:79283", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD": "ORPHA:79283", "Methylmalonic aciduria with homocystinuria, type cblD": "ORPHA:79283", "Methylmalonic acidemia with homocystinuria type cblF": "ORPHA:79284", "CblF defect": "ORPHA:79284", "Cobalamin F defect": "ORPHA:79284", "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF": "ORPHA:79284", "Lysosomal membrane cobalamin transporter deficiency": "ORPHA:79284", "Methylmalonic aciduria with homocystinuria, type cblF": "ORPHA:79284", "Sanfilippo syndrome type B": "ORPHA:79270", "MPS3B": "ORPHA:79270", "MPSIIIB": "ORPHA:79270", "Mucopolysaccharidosis type 3B": "ORPHA:79270", "Mucopolysaccharidosis type IIIB": "ORPHA:79270", "N-acetyl-alpha-glucosaminidase deficiency": "ORPHA:79270", "Sanfilippo syndrome type C": "ORPHA:79271", "HGSNAT deficiency": "ORPHA:79271", "Heparan-alpha-glucosaminide N-acetyltransferase deficiency": "ORPHA:79271", "MPS3C": "ORPHA:79271", "MPSIIIC": "ORPHA:79271", "Mucopolysaccharidosis type 3C": "ORPHA:79271", "Mucopolysaccharidosis type IIIC": "ORPHA:79271", "Sanfilippo syndrome type D": "ORPHA:79272", "GNS deficiency": "ORPHA:79272", "Glucosamine N-acetyl-6-sulfatase deficiency": "ORPHA:79272", "MPS3D": "ORPHA:79272", "MPSIIID": "ORPHA:79272", "Mucopolysaccharidosis type 3D": "ORPHA:79272", "Mucopolysaccharidosis type IIID": "ORPHA:79272", "Hereditary coproporphyria": "ORPHA:79273", "Acute intermittent porphyria": "ORPHA:79276", "Congenital erythropoietic porphyria": "ORPHA:79277", "CEP": "ORPHA:79277", "G\u00fcnther disease": "ORPHA:79277", "COG7-CDG": "ORPHA:79333", "CDG syndrome type IIe": "ORPHA:79333", "CDG-IIe": "ORPHA:79333", "CDG2E": "ORPHA:79333", "Carbohydrate deficient glycoprotein syndrome type IIe": "ORPHA:79333", "Congenital disorder of glycosylation type 2e": "ORPHA:79333", "Congenital disorder of glycosylation type IIe": "ORPHA:79333", "B4GALT1-CDG": "ORPHA:79332", "Beta-1,4-galactosyltransferase deficiency": "ORPHA:79332", "CDG syndrome type IId": "ORPHA:79332", "CDG-IId": "ORPHA:79332", "CDG2D": "ORPHA:79332", "Carbohydrate deficient glycoprotein syndrome type IId": "ORPHA:79332", "Congenital disorder of glycosylation type 2d": "ORPHA:79332", "Congenital disorder of glycosylation type IId": "ORPHA:79332", "MOGS-CDG": "ORPHA:79330", "CDG syndrome type IIb": "ORPHA:79330", "CDG-IIb": "ORPHA:79330", "CDG2B": "ORPHA:79330", "Carbohydrate deficient glycoprotein syndrome type IIb": "ORPHA:79330", "Congenital disorder of glycosylation type 2b": "ORPHA:79330", "Congenital disorder of glycosylation type IIb": "ORPHA:79330", "Glucosidase 1 deficiency": "ORPHA:79330", "MGAT2-CDG": "ORPHA:79329", "CDG syndrome type IIa": "ORPHA:79329", "CDG-IIa": "ORPHA:79329", "CDG2A": "ORPHA:79329", "Carbohydrate deficient glycoprotein syndrome type IIa": "ORPHA:79329", "Congenital disorder of glycosylation type 2a": "ORPHA:79329", "Congenital disorder of glycosylation type IIa": "ORPHA:79329", "N-acetylglucosaminyltransferase 2 deficiency": "ORPHA:79329", "ALG9-CDG": "ORPHA:79328", "CDG syndrome type IL": "ORPHA:79328", "CDG-IL": "ORPHA:79328", "CDG1L": "ORPHA:79328", "Carbohydrate deficient glycoprotein syndrome type IL": "ORPHA:79328", "Congenital disorder of glycosylation type 1L": "ORPHA:79328", "Mannosyltransferase 7-9 deficiency": "ORPHA:79328", "ALG1-CDG": "ORPHA:79327", "CDG syndrome type Ik": "ORPHA:79327", "CDG-Ik": "ORPHA:79327", "CDG1K": "ORPHA:79327", "Carbohydrate deficient glycoprotein syndrome type Ik": "ORPHA:79327", "Congenital disorder of glycosylation type 1k": "ORPHA:79327", "Congenital disorder of glycosylation type Ik": "ORPHA:79327", "Mannosyltransferase 1 deficiency": "ORPHA:79327", "ALG2-CDG": "ORPHA:79326", "CDG syndrome type Ii": "ORPHA:79326", "CDG-Ii": "ORPHA:79326", "CDG1I": "ORPHA:79326", "Carbohydrate deficient glycoprotein syndrome type Ii": "ORPHA:79326", "Congenital disorder of glycosylation type 1i": "ORPHA:79326", "Congenital disorder of glycosylation type Ii": "ORPHA:79326", "Mannosyltransferase 2 deficiency": "ORPHA:79326", "ALG8-CDG": "ORPHA:79325", "CDG syndrome type Ih": "ORPHA:79325", "CDG-Ih": "ORPHA:79325", "CDG1H": "ORPHA:79325", "Carbohydrate deficient glycoprotein syndrome type Ih": "ORPHA:79325", "Congenital disorder of glycosylation type 1h": "ORPHA:79325", "Congenital disorder of glycosylation type Ih": "ORPHA:79325", "Glucosyltransferase 2 deficiency": "ORPHA:79325", "ALG12-CDG": "ORPHA:79324", "CDG syndrome type Ig": "ORPHA:79324", "CDG-Ig": "ORPHA:79324", "CDG1G": "ORPHA:79324", "Carbohydrate deficient glycoprotein syndrome type Ig": "ORPHA:79324", "Congenital disorder of glycosylation type 1g": "ORPHA:79324", "Congenital disorder of glycosylation type Ig": "ORPHA:79324", "Mannosyltransferase 8 deficiency": "ORPHA:79324", "MPDU1-CDG": "ORPHA:79323", "CDG syndrome type If": "ORPHA:79323", "CDG-If": "ORPHA:79323", "CDG1F": "ORPHA:79323", "Carbohydrate deficient glycoprotein syndrome type If": "ORPHA:79323", "Congenital disorder of glycosylation type 1f": "ORPHA:79323", "Congenital disorder of glycosylation type If": "ORPHA:79323", "DPM1-CDG": "ORPHA:79322", "CDG syndrome type Ie": "ORPHA:79322", "CDG-Ie": "ORPHA:79322", "CDG1E": "ORPHA:79322", "Carbohydrate deficient glycoprotein syndrome type Ie": "ORPHA:79322", "Congenital disorder of glycosylation type 1e": "ORPHA:79322", "Congenital disorder of glycosylation type Ie": "ORPHA:79322", "Dol-P-mannosyltransferase deficiency": "ORPHA:79322", "ALG3-CDG": "ORPHA:79321", "CDG syndrome type Id": "ORPHA:79321", "CDG-Id": "ORPHA:79321", "CDG1D": "ORPHA:79321", "Carbohydrate deficient glycoprotein syndrome type Id": "ORPHA:79321", "Congenital disorder of glycosylation type 1d": "ORPHA:79321", "Congenital disorder of glycosylation type Id": "ORPHA:79321", "Mannosyltransferase 6 deficiency": "ORPHA:79321", "ALG6-CDG": "ORPHA:79320", "CDG syndrome type Ic": "ORPHA:79320", "CDG-Ic": "ORPHA:79320", "CDG1C": "ORPHA:79320", "Carbohydrate deficient glycoprotein syndrome type Ic": "ORPHA:79320", "Congenital disorder of glycosylation type 1c": "ORPHA:79320", "Congenital disorder of glycosylation type Ic": "ORPHA:79320", "Glucosyltransferase 1 deficiency": "ORPHA:79320", "MPI-CDG": "ORPHA:79319", "CDG syndrome type Ib": "ORPHA:79319", "CDG-Ib": "ORPHA:79319", "CDG1B": "ORPHA:79319", "Carbohydrate deficient glycoprotein syndrome type Ib": "ORPHA:79319", "Congenital disorder of glycosylation type 1b": "ORPHA:79319", "Congenital disorder of glycosylation type Ib": "ORPHA:79319", "Phosphomannose isomerase deficiency": "ORPHA:79319", "PMM2-CDG": "ORPHA:79318", "CDG syndrome type Ia": "ORPHA:79318", "CDG-Ia": "ORPHA:79318", "CDG1A": "ORPHA:79318", "Carbohydrate deficient glycoprotein syndrome type Ia": "ORPHA:79318", "Congenital disorder of glycosylation type 1a": "ORPHA:79318", "Congenital disorder of glycosylation type Ia": "ORPHA:79318", "Phosphomannomutase 2 deficiency": "ORPHA:79318", "OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency": "ORPHA:79316", "OBSOLETE: PEPCK1 deficiency": "ORPHA:79316", "OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency": "ORPHA:79317", "OBSOLETE: PEPCK2 deficiency": "ORPHA:79317", "L-2-hydroxyglutaric aciduria": "ORPHA:79314", "L-2-HGA": "ORPHA:79314", "L-2-hydroxyglutaric acidemia": "ORPHA:79314", "D-2-hydroxyglutaric aciduria": "ORPHA:79315", "D-2-HGA": "ORPHA:79315", "D-2-hydroxyglutaric acidemia": "ORPHA:79315", "Vitamin B12-unresponsive methylmalonic acidemia type mut-": "ORPHA:79312", "Partial deficiency of methylmalonyl-CoA mutase": "ORPHA:79312", "Vitamin B12-unresponsive methylmalonic aciduria type mut-": "ORPHA:79312", "Vitamin B12-responsive methylmalonic acidemia type cblA": "ORPHA:79310", "Vitamin B12-responsive methylmalonic aciduria type cblA": "ORPHA:79310", "Vitamin B12-responsive methylmalonic acidemia type cblB": "ORPHA:79311", "Vitamin B12-responsive methylmalonic aciduria, type cblB": "ORPHA:79311", "Progressive familial intrahepatic cholestasis type 1": "ORPHA:79306", "Byler disease": "ORPHA:79306", "FIC1 deficiency": "ORPHA:79306", "PFIC1": "ORPHA:79306", "Progressive familial intrahepatic cholestasis type 2": "ORPHA:79304", "BSEP deficiency": "ORPHA:79304", "PFIC2": "ORPHA:79304", "Progressive familial intrahepatic cholestasis type 3": "ORPHA:79305", "PFIC3": "ORPHA:79305", "Congenital bile acid synthesis defect type 3": "ORPHA:79302", "BASD3": "ORPHA:79302", "Oxysterol 7-alpha-hydroxylase deficiency": "ORPHA:79302", "Congenital bile acid synthesis defect type 2": "ORPHA:79303", "BASD2": "ORPHA:79303", "Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency": "ORPHA:79303", "Hair anomaly": "ORPHA:79363", "Epidermal appendage anomaly": "ORPHA:79362", "Rare disorder with hypertrichosis": "ORPHA:79365", "Alopecia": "ORPHA:79364", "Other epidermal disorder": "ORPHA:79359", "Porokeratosis": "ORPHA:79358", "Inherited epidermolysis bullosa": "ORPHA:79361", "Epidermolysis bullosa hereditaria": "ORPHA:79361", "Hereditary epidermolysis bullosa": "ORPHA:79361", "Other genetic epidermal disease": "ORPHA:79360", "Erythrokeratoderma": "ORPHA:79355", "Ichthyosis": "ORPHA:79354", "Hereditary palmoplantar keratoderma": "ORPHA:79357", "Hereditary PPK": "ORPHA:79357", "Hereditary keratosis palmoplantaris": "ORPHA:79357", "Hereditary palmoplantar hyperkeratosis": "ORPHA:79357", "Acrokeratoderma": "ORPHA:79356", "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form": "ORPHA:79351", "PHGDH deficiency, infantile/juvenile form": "ORPHA:79351", "3-phosphoserine phosphatase deficiency, infantile/juvenile form": "ORPHA:79350", "PSPH deficiency, infantile/juvenile form": "ORPHA:79350", "Epidermal disease": "ORPHA:79353", "Chondrodysplasia punctata, tibial-metacarpal type": "ORPHA:79346", "Chondrodysplasia punctata, Toriello type": "ORPHA:79347", "Toriello-Higgins-Miller syndrome": "ORPHA:79347", "OBSOLETE: Chondrodysplasia punctata, Sheffield type": "ORPHA:79344", "Brachytelephalangic chondrodysplasia punctata": "ORPHA:79345", "Singleton-Merten dysplasia": "ORPHA:85191", "Singleton-Merten syndrome": "ORPHA:85191", "Metaphyseal dysplasia, Braun-Tinschert type": "ORPHA:85188", "Idiopathic juvenile osteoporosis": "ORPHA:85193", "IJO": "ORPHA:85193", "Juvenile osteoporosis": "ORPHA:85193", "Calvarial doughnut lesions-bone fragility syndrome": "ORPHA:85192", "Familial doughnut lesions of skull": "ORPHA:85192", "Familial expansile osteolysis": "ORPHA:85195", "Hereditary expansile polyostotic osteolytic dysplasia": "ORPHA:85195", "McCabe disease": "ORPHA:85195", "Spondylo-ocular syndrome": "ORPHA:85194", "Genochondromatosis type 1": "ORPHA:85197", "Craniosynostosis-anal anomalies-porokeratosis syndrome": "ORPHA:85199", "CAP syndrome": "ORPHA:85199", "CDAGS syndrome": "ORPHA:85199", "Dysspondyloenchondromatosis": "ORPHA:85198", "Genitopatellar syndrome": "ORPHA:85201", "Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome": "ORPHA:85201", "Ischio-vertebral syndrome": "ORPHA:85200", "Ischiospinal dysostosis": "ORPHA:85200", "Ischiovertebral dysplasia": "ORPHA:85200", "Acropectoral syndrome": "ORPHA:85203", "ACRP syndrome": "ORPHA:85203", "Syndactyly-preaxial polydactyly-sternal deformity syndrome": "ORPHA:85203", "Keutel syndrome": "ORPHA:85202", "Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome": "ORPHA:85202", "X-linked intellectual disability, Abidi type": "ORPHA:85273", "Fetal Gaucher disease": "ORPHA:85212", "Perinatal lethal Gaucher disease": "ORPHA:85212", "Syndromic X-linked intellectual disability 7": "ORPHA:85274", "MRXS7": "ORPHA:85274", "X-linked intellectual disability, Ahmad type": "ORPHA:85274", "Microphthalmia-ankyloblepharon-intellectual disability syndrome": "ORPHA:85275", "MCOPS4": "ORPHA:85275", "Syndromic microphthalmia type 4": "ORPHA:85275", "X-linked intellectual disability, Armfield type": "ORPHA:85276", "Armfield syndrome": "ORPHA:85276", "X-linked intellectual disability, Cantagrel type": "ORPHA:85277", "Christianson syndrome": "ORPHA:85278", "X-linked Angelman-like syndrome": "ORPHA:85278", "KDM5C-related syndromic X-linked intellectual disability": "ORPHA:85279", "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome": "ORPHA:85280", "OBSOLETE: MECP2 duplication syndrome": "ORPHA:85281", "OBSOLETE: Lubs-Arena syndrome": "ORPHA:85281", "OBSOLETE: X-linked intellectual disability, Lubs type": "ORPHA:85281", "OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome": "ORPHA:85281", "MEHMO syndrome": "ORPHA:85282", "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome": "ORPHA:85282", "X-linked intellectual disability, Miles-Carpenter type": "ORPHA:85283", "BRESEK syndrome": "ORPHA:85284", "BRESHECK syndrome": "ORPHA:85284", "X-linked intellectual disability, Schimke type": "ORPHA:85285", "X-linked intellectual disability, Shashi type": "ORPHA:85286", "Syndromic X-linked intellectual disability type 11": "ORPHA:85286", "X-linked intellectual disability, Siderius type": "ORPHA:85287", "X-linked intellectual disability, Stocco Dos Santos type": "ORPHA:85288", "X-linked intellectual disability, Vitale type": "ORPHA:85289", "X-linked intellectual disability, Cabezas type": "ORPHA:85293", "Cabezas syndrome": "ORPHA:85293", "X-linked spinocerebellar ataxia type 4": "ORPHA:85292", "SCAX4": "ORPHA:85292", "X-linked ataxia-dementia syndrome": "ORPHA:85292", "X-linked intellectual disability, Wittwer type": "ORPHA:85291", "Wittwer syndrome": "ORPHA:85291", "X-linked intellectual disability, Wilson type": "ORPHA:85290", "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome": "ORPHA:85317", "X-linked spinocerebellar ataxia type 3": "ORPHA:85297", "SCAX3": "ORPHA:85297", "X-linked ataxia-deafness syndrome": "ORPHA:85297", "X-linked ataxia-hearing loss syndrome": "ORPHA:85297", "HSD10 disease, atypical type": "ORPHA:85295", "HSD10 deficiency, atypical type": "ORPHA:85295", "Syndromic X-linked intellectual disability type 10": "ORPHA:85295", "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome": "ORPHA:85295", "X-linked epilepsy-learning disabilities-behavior disorders syndrome": "ORPHA:85294", "Deafness-intellectual disability syndrome, Martin-Probst type": "ORPHA:85321", "Hearing loss-intellectual disability syndrome, Martin-Probst type": "ORPHA:85321", "Martin-Probst syndrome": "ORPHA:85321", "X-linked deafness-intellectual disability syndrome": "ORPHA:85321", "X-linked hearing loss-intellectual disability syndrome": "ORPHA:85321", "X-linked intellectual disability-macrocephaly-macroorchidism syndrome": "ORPHA:85320", "Johnson syndrome": "ORPHA:85320", "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome": "ORPHA:85319", "OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome": "ORPHA:85318", "X-linked intellectual disability, Stevenson type": "ORPHA:85325", "X-linked intellectual disability, Shrimpton type": "ORPHA:85324", "MRXS9": "ORPHA:85324", "X-linked intellectual disability, Seemanova type": "ORPHA:85323", "X-linked intellectual disability, Pai type": "ORPHA:85322", "X-linked intellectual disability, Turner type": "ORPHA:85328", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome": "ORPHA:85329", "X-linked intellectual disability, Stoll type": "ORPHA:85326", "X-linked intellectual disability-acromegaly-hyperactivity syndrome": "ORPHA:85327", "X-linked intellectual disability-retinitis pigmentosa syndrome": "ORPHA:85332", "Aldred syndrome": "ORPHA:85332", "Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion": "ORPHA:85332", "Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)": "ORPHA:85332", "Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3": "ORPHA:85332", "X-linked intellectual disability-spastic paraplegia with iron deposits syndrome": "ORPHA:85333", "Arena syndrome": "ORPHA:85333", "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome": "ORPHA:85330", "OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome": "ORPHA:85331", "X-linked neurodegenerative syndrome, Hamel type": "ORPHA:85336", "X-linked intellectual disability, Zorick type": "ORPHA:85337", "X-linked neurodegenerative syndrome, Bertini type": "ORPHA:85334", "Fried syndrome": "ORPHA:85335", "Oligoarticular juvenile idiopathic arthritis": "ORPHA:85410", "Oligoarticular JIA": "ORPHA:85410", "Pauciarticular chronic arthritis": "ORPHA:85410", "Systemic-onset juvenile idiopathic arthritis": "ORPHA:85414", "Still disease": "ORPHA:85414", "Systemic-onset JIA": "ORPHA:85414", "X-linked intellectual disability-ataxia-apraxia syndrome": "ORPHA:85338", "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis": "ORPHA:85408", "Juvenile polyarthritis without rheumatoid factor": "ORPHA:85408", "Juvenile rheumatoid factor-negative polyarthritis": "ORPHA:85408", "Rheumatoid factor-negative polyarticular JIA": "ORPHA:85408", "AL amyloidosis": "ORPHA:85443", "Light-chain amyloidosis": "ORPHA:85443", "Short stature-pituitary and cerebellar defects-small sella turcica syndrome": "ORPHA:85442", "Wild type ABeta2M amyloidosis": "ORPHA:85446", "ABeta2Mwt amyloidosis": "ORPHA:85446", "Dialysis-related amyloidosis": "ORPHA:85446", "Dialysis-related arthropathy": "ORPHA:85446", "Wild type ABeta2-microglobulinic amyloidosis": "ORPHA:85446", "AA amyloidosis": "ORPHA:85445", "Inflammatory amyloidosis": "ORPHA:85445", "Reactive amyloidosis": "ORPHA:85445", "Psoriasis-related juvenile idiopathic arthritis": "ORPHA:85436", "Juvenile psoriatic arthritis": "ORPHA:85436", "Psoriasis-related JIA": "ORPHA:85436", "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis": "ORPHA:85435", "Juvenile idiopathic rheumatoid factor-positive polyarthritis": "ORPHA:85435", "Juvenile polyarthritis with rheumatoid factor": "ORPHA:85435", "Rheumatoid factor-positive polyarticular JIA": "ORPHA:85435", "Enthesitis-related juvenile idiopathic arthritis": "ORPHA:85438", "Enthesitis-related JIA": "ORPHA:85438", "Juvenile ERA": "ORPHA:85438", "Cerebral Amyloid Angiopathy": "ORPHA:85458", "HCHWA": "ORPHA:85458", "Hereditary cerebral hemorrhage with amyloidosis": "ORPHA:85458", "X-linked reticulate pigmentary disorder": "ORPHA:85453", "Familial cutaneous amyloidosis": "ORPHA:85453", "PDR": "ORPHA:85453", "Partington disease": "ORPHA:85453", "X-linked cutaneous amyloidosis": "ORPHA:85453", "XLPDR": "ORPHA:85453", "X-linked severe congenital neutropenia": "ORPHA:86788", "DPAGT1-CDG": "ORPHA:86309", "CDG syndrome type Ij": "ORPHA:86309", "CDG-Ij": "ORPHA:86309", "CDG1J": "ORPHA:86309", "Carbohydrate deficient glycoprotein syndrome type Ij": "ORPHA:86309", "Congenital disorder of glycosylation type 1j": "ORPHA:86309", "Congenital disorder of glycosylation type Ij": "ORPHA:86309", "Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency": "ORPHA:86309", "AGel amyloidosis": "ORPHA:85448", "Familial amyloid polyneuropathy type IV": "ORPHA:85448", "Familial amyloidosis, Finnish type": "ORPHA:85448", "Gelsolin amyloidosis": "ORPHA:85448", "Hereditary amyloidosis, Finnish type": "ORPHA:85448", "ATTRV30M amyloidosis": "ORPHA:85447", "ATTRV30M-related amyloidosis": "ORPHA:85447", "Hereditary ATTRV30M-related amyloidosis": "ORPHA:85447", "ATTRV122I amyloidosis": "ORPHA:85451", "ATTRV122I-related amyloidosis": "ORPHA:85451", "Hereditary amyloidosis with primary renal involvement": "ORPHA:85450", "Amyloidosis, Ostertag type": "ORPHA:85450", "Familial amyloid nephropathy": "ORPHA:85450", "Familial renal amyloidosis": "ORPHA:85450", "Hereditary amyloid nephropathy": "ORPHA:85450", "Hereditary renal amyloidosis": "ORPHA:85450", "POMT1-related limb-girdle muscular dystrophy R11": "ORPHA:86812", "Autosomal recessive limb-girdle muscular dystrophy type 2K": "ORPHA:86812", "LGMD type 2K": "ORPHA:86812", "LGMD2K": "ORPHA:86812", "Limb-girdle muscular dystrophy type 2K": "ORPHA:86812", "Limb-girdle muscular dystrophy-intellectual disability syndrome": "ORPHA:86812", "POMT1-related LGMD R11": "ORPHA:86812", "Helicoid peripapillary chorioretinal degeneration": "ORPHA:86813", "Atrophia areata": "ORPHA:86813", "SCRA": "ORPHA:86813", "Sveinsson chorioretinal atrophy": "ORPHA:86813", "Benign adult familial myoclonic epilepsy": "ORPHA:86814", "ADCME": "ORPHA:86814", "Autosomal dominant cortical myoclonus and epilepsy": "ORPHA:86814", "BAFME": "ORPHA:86814", "Benign adult familial myoclonus epilepsy": "ORPHA:86814", "FAME": "ORPHA:86814", "FCMTE": "ORPHA:86814", "Familial adult myoclonic epilepsy": "ORPHA:86814", "Familial cortical myoclonic tremor and epilepsy": "ORPHA:86814", "Aplasia of lacrimal and salivary glands": "ORPHA:86815", "ALSG": "ORPHA:86815", "Congenital absence of lacrimal puncta and salivary glands": "ORPHA:86815", "Isolated patella aplasia/hypoplasia": "ORPHA:86789", "PTLAH": "ORPHA:86789", "Localized lichen myxedematosus": "ORPHA:86795", "Papular mucinosis": "ORPHA:86795", "Atypical lichen myxedematosus": "ORPHA:86797", "Intermediate lichen myxedematosus": "ORPHA:86797", "Familial avascular necrosis of femoral head": "ORPHA:86820", "Familial osteonecrosis of the femoral head": "ORPHA:86820", "Lissencephaly type 3-familial fetal akinesia sequence syndrome": "ORPHA:86821", "Lissencephaly type 3-metacarpal bone dysplasia syndrome": "ORPHA:86822", "Lissencephaly with cerebellar hypoplasia": "ORPHA:86823", "LCH": "ORPHA:86823", "Congenital analbuminemia": "ORPHA:86816", "Chronic lymphoproliferative disorder of natural killer cells": "ORPHA:512017", "CLPD-NK": "ORPHA:512017", "CNKL": "ORPHA:512017", "Chronic NK lymphocytosis": "ORPHA:512017", "Chronic NK-cell lymphocytosis": "ORPHA:512017", "Chronic lymphoproliferative disorder of NK-cells": "ORPHA:512017", "NK-cell lineage granular lymphocyte proliferative disorder": "ORPHA:512017", "Hemolytic anemia due to adenylate kinase deficiency": "ORPHA:86817", "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome": "ORPHA:86818", "AMME complex": "ORPHA:86818", "AMME syndrome": "ORPHA:86818", "ATS-MR": "ORPHA:86818", "Atrichia with papular lesions": "ORPHA:86819", "Papular atrichia": "ORPHA:86819", "Large granular lymphocyte leukemia": "ORPHA:512034", "Acute panmyelosis with myelofibrosis": "ORPHA:86843", "Acute myelodysplasia with myelofibrosis": "ORPHA:86843", "Acute myelofibrosis": "ORPHA:86843", "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality": "ORPHA:86841", "5q- syndrome": "ORPHA:86841", "Myelodysplastic neoplasm with increased blasts": "ORPHA:86839", "MDS with excess blasts": "ORPHA:86839", "MDS-IB": "ORPHA:86839", "RAEB": "ORPHA:86839", "Refractory anemia with excess blasts": "ORPHA:86839", "Refractory cytopenia with multilineage dysplasia": "ORPHA:86836", "Autosomal recessive epidermolytic ichthyosis": "ORPHA:512103", "AREI": "ORPHA:512103", "Juvenile myelomonocytic leukemia": "ORPHA:86834", "JMML": "ORPHA:86834", "Juvenile chronic myelomonocytic leukemia": "ORPHA:86834", "Chronic myeloproliferative disease, unclassifiable": "ORPHA:86830", "CMPD-U": "ORPHA:86830", "Undifferentiated myeloproliferative disease": "ORPHA:86830", "Chronic neutrophilic leukemia": "ORPHA:86829", "Plasmacytoma": "ORPHA:86855", "Solitary plasmacytoma": "ORPHA:86855", "Congenital cerebellar ataxia due to RNU12 mutation": "ORPHA:512260", "Splenic marginal zone lymphoma": "ORPHA:86854", "SMZL": "ORPHA:86854", "B-cell prolymphocytic leukemia": "ORPHA:86852", "B-PLL": "ORPHA:86852", "Acute leukemia of ambiguous lineage": "ORPHA:86851", "Acute leukemia of indeterminate lineage": "ORPHA:86851", "Hybrid acute leukemia": "ORPHA:86851", "Mixed lineage acute leukemia": "ORPHA:86851", "Myeloid sarcoma": "ORPHA:86850", "Chloroma": "ORPHA:86850", "Extramedullary myeloid tumor": "ORPHA:86850", "Granulocytic sarcoma": "ORPHA:86850", "Acute basophilic leukemia": "ORPHA:86849", "Therapy related acute myeloid leukemia and myelodysplastic syndrome": "ORPHA:86846", "Secondary AML": "ORPHA:86846", "Secondary acute myeloid leukemia": "ORPHA:86846", "Therapy-related AML and myelodysplastic syndrome": "ORPHA:86846", "Acute myeloid leukaemia with myelodysplasia-related features": "ORPHA:86845", "AML with multilineage dysplasia": "ORPHA:86845", "AML with myelodysplasia-related features": "ORPHA:86845", "Acute myeloid leukemia with multilineage dysplasia": "ORPHA:86845", "T-cell large granular lymphocyte leukemia": "ORPHA:86872", "Proliferation of large granular lymphocytes": "ORPHA:86872", "T-LGL": "ORPHA:86872", "T-cell LGL leukemia": "ORPHA:86872", "Aggressive NK-cell leukemia": "ORPHA:86873", "ANKCL": "ORPHA:86873", "Aggressive NK-cell lymphoma": "ORPHA:86873", "NK-cell LGL leukemia": "ORPHA:86873", "NK-cell large granular lymphocyte leukemia": "ORPHA:86873", "Blastic plasmacytoid dendritic cell neoplasm": "ORPHA:86870", "BPDCN": "ORPHA:86870", "T-cell prolymphocytic leukemia": "ORPHA:86871", "T-PLL": "ORPHA:86871", "T-cell chronic lymphocytic leukemia": "ORPHA:86871", "Nodal marginal zone B-cell lymphoma": "ORPHA:86867", "NMZL": "ORPHA:86867", "Lymphomatoid granulomatosis": "ORPHA:86869", "LYG": "ORPHA:86869", "Non-amyloid monoclonal immunoglobulin deposition disease": "ORPHA:86861", "Non-amyloid MIDD": "ORPHA:86861", "Randall disease": "ORPHA:86861", "Heavy chain disease": "ORPHA:86864", "HCD": "ORPHA:86864", "Angioimmunoblastic T-cell lymphoma": "ORPHA:86886", "AILT": "ORPHA:86886", "Immunoblastic lymphadenopathy": "ORPHA:86886", "Lymphogranulomatosis X": "ORPHA:86886", "T-cell lymphoma, AILD type": "ORPHA:86886", "Nodular lymphocyte predominant Hodgkin lymphoma": "ORPHA:86893", "NLPHL": "ORPHA:86893", "Subcutaneous panniculitis-like T-cell lymphoma": "ORPHA:86884", "SPTCL": "ORPHA:86884", "Subcutaneous panniculitic T-cell lymphoma": "ORPHA:86884", "Primary cutaneous peripheral T-cell lymphoma not otherwise specified": "ORPHA:86885", "Primary cutaneous peripheral T-cell lymphoma NOS": "ORPHA:86885", "Primary cutaneous unspecified peripheral T-cell lymphoma": "ORPHA:86885", "Enteropathy-associated T-cell lymphoma": "ORPHA:86880", "EATL": "ORPHA:86880", "ETTL": "ORPHA:86880", "Enteropathy-associated T-cell lymphoma type 1": "ORPHA:86880", "Enteropathy-type T-cell lymphoma": "ORPHA:86880", "Intestinal T-cell lymphoma": "ORPHA:86880", "Hepatosplenic T-cell lymphoma": "ORPHA:86882", "Adult T-cell leukemia/lymphoma": "ORPHA:86875", "ATLL": "ORPHA:86875", "Extranodal nasal NK/T cell lymphoma": "ORPHA:86879", "Angiocentric T-cell lymphoma": "ORPHA:86879", "Lethal midline granuloma": "ORPHA:86879", "NK/T-cell lymphoma": "ORPHA:86879", "NKTCL": "ORPHA:86879", "Nasal T/natural killer-cell lymphoma": "ORPHA:86879", "Punctate palmoplantar keratoderma type 2": "ORPHA:79502", "PPKP2": "ORPHA:79502", "PPPP": "ORPHA:79502", "Porokeratosis punctata palmaris et plantaris": "ORPHA:79502", "Punctate palmoplantar hyperkeratosis type 2": "ORPHA:79502", "Ichthyosis hystrix of Curth-Macklin": "ORPHA:79503", "Ichthyosis hystrix, Curth-Macklin type": "ORPHA:79503", "Ichthyosis hystrix gravior": "ORPHA:79504", "Ichthyosis, Lambert type": "ORPHA:79504", "OBSOLETE: Cholesterol-ester transfer protein deficiency": "ORPHA:79506", "OBSOLETE: CEPT deficiency": "ORPHA:79506", "OBSOLETE: Familial hyperalphalipoproteinemia type I": "ORPHA:79506", "Hypotonia-failure to thrive-microcephaly syndrome": "ORPHA:79507", "LTC4 synthase deficiency": "ORPHA:79507", "Leukotriene C4 synthase deficiency": "ORPHA:79507", "X-linked congenital generalized hypertrichosis": "ORPHA:79495", "Congenital generalized hypertrichosis, Macias-Flores type": "ORPHA:79495", "Macias Flores-Garcia Cruz-Rivera syndrome": "ORPHA:79495", "Autosomal dominant deafness-onychodystrophy syndrome": "ORPHA:79499", "Autosomal dominant hearing loss-onychodystrophy syndrome": "ORPHA:79499", "DDOD syndrome": "ORPHA:79499", "DOORS syndrome": "ORPHA:79500", "Autosomal recessive deafness-onychodystrophy syndrome": "ORPHA:79500", "Autosomal recessive hearing loss-onychodystrophy syndrome": "ORPHA:79500", "DOOR syndrome": "ORPHA:79500", "Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome": "ORPHA:79500", "Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome": "ORPHA:79500", "Deafness-onychoosteodystrophy-intellectual disability syndrome": "ORPHA:79500", "Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome": "ORPHA:79500", "Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome": "ORPHA:79500", "Hearing loss-onychoosteodystrophy-intellectual disability syndrome": "ORPHA:79500", "Punctate palmoplantar keratoderma type 1": "ORPHA:79501", "Buschke-Fischer-Brauer syndrome": "ORPHA:79501", "Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type": "ORPHA:79501", "PPKP1": "ORPHA:79501", "Autoimmune bullous skin disease": "ORPHA:79669", "Gardner syndrome": "ORPHA:79665", "Ehlers-Danlos syndrome with periventricular heterotopia": "ORPHA:82004", "EDS with periventricular heterotopia": "ORPHA:82004", "Filamin A-related EDS with periventricular nodular heterotopia": "ORPHA:82004", "Urogenital tract malformation": "ORPHA:83001", "Autosomal recessive hyperinsulinism due to SUR1 deficiency": "ORPHA:79643", "Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency": "ORPHA:79643", "Mild hyperphenylalaninemia": "ORPHA:79651", "Mild HPA": "ORPHA:79651", "Non-PKU HPA": "ORPHA:79651", "mHPA": "ORPHA:79651", "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency": "ORPHA:79644", "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency": "ORPHA:79644", "Scrub typhus": "ORPHA:83317", "Tsutsugamushi disease": "ORPHA:83317", "Tsutsugamushi fever": "ORPHA:83317", "Proximal spinal muscular atrophy type 1": "ORPHA:83330", "Infantile spinal muscular atrophy": "ORPHA:83330", "Infantile-onset spinal muscular atrophy": "ORPHA:83330", "SMA type 1": "ORPHA:83330", "SMA type I": "ORPHA:83330", "SMA-I": "ORPHA:83330", "SMA1": "ORPHA:83330", "Werdnig-Hoffmann disease": "ORPHA:83330", "Murine typhus": "ORPHA:83315", "Endemic typhus": "ORPHA:83315", "Flea-borne typhus": "ORPHA:83315", "Pseudotyphus of California": "ORPHA:83316", "Proximal spinal muscular atrophy type 3": "ORPHA:83419", "Juvenile spinal muscular atrophy": "ORPHA:83419", "Kugelberg-Welander disease": "ORPHA:83419", "SMA type 3": "ORPHA:83419", "SMA type III": "ORPHA:83419", "SMA-III": "ORPHA:83419", "SMA3": "ORPHA:83419", "Proximal spinal muscular atrophy type 4": "ORPHA:83420", "SMA type 4": "ORPHA:83420", "SMA type IV": "ORPHA:83420", "SMA-IV": "ORPHA:83420", "SMA4": "ORPHA:83420", "Spinal muscular atrophy, adult form": "ORPHA:83420", "Proximal spinal muscular atrophy type 2": "ORPHA:83418", "Intermediate spinal muscular atrophy": "ORPHA:83418", "SMA type 2": "ORPHA:83418", "SMA type II": "ORPHA:83418", "SMA-II": "ORPHA:83418", "SMA2": "ORPHA:83418", "Boutonneuse fever": "ORPHA:83313", "Mediterranean spotted fever": "ORPHA:83313", "Epidemic typhus": "ORPHA:83314", "Rocky Mountain spotted fever": "ORPHA:83311", "Rickettsialpox": "ORPHA:83312", "Desmoplastic small round cell tumor": "ORPHA:83469", "DSRCT": "ORPHA:83469", "Solitary bone cyst": "ORPHA:83468", "Unicameral bone cyst": "ORPHA:83468", "Morvan syndrome": "ORPHA:83467", "Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome": "ORPHA:83467", "Morvan fibrillary chorea": "ORPHA:83467", "Narcolepsy type 2": "ORPHA:83465", "Narcolepsy without cataplexy": "ORPHA:83465", "West-Nile encephalitis": "ORPHA:83476", "West-Nile fever": "ORPHA:83476", "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome": "ORPHA:83473", "MPPH syndrome": "ORPHA:83473", "CAMOS syndrome": "ORPHA:83472", "Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome": "ORPHA:83472", "SCAR5": "ORPHA:83472", "T-cell immunodeficiency with thymic aplasia": "ORPHA:83471", "Isolated aplasia/hypoplasia of the thymus": "ORPHA:83471", "Isolated congenital athymia": "ORPHA:83471", "Isolated congenital thymic aplasia/hypoplasia": "ORPHA:83471", "Isolated thymic defect due to thymic aplasia/hypoplasia": "ORPHA:83471", "Nezelof syndrome": "ORPHA:83471", "Complex regional pain syndrome": "ORPHA:83452", "Florid cemento-osseous dysplasia": "ORPHA:83451", "Florid osseous dysplasia": "ORPHA:83451", "Focal cemento-osseous dysplasia": "ORPHA:83451", "Regional odontodysplasia": "ORPHA:83450", "Ghost teeth": "ORPHA:83450", "NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome": "ORPHA:83449", "NON RARE IN EUROPE: SIADH": "ORPHA:83449", "Microtia": "ORPHA:83463", "Congenital primary aphakia": "ORPHA:83461", "Glomuvenous malformation": "ORPHA:83454", "Glomangiomatosis": "ORPHA:83454", "Hereditary multiple glomangiomas": "ORPHA:83454", "Multiple glomus tumors": "ORPHA:83454", "VMGLOM": "ORPHA:83454", "Venous malformations with glomus cells": "ORPHA:83454", "Vulvovaginal gingival syndrome": "ORPHA:83453", "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome": "ORPHA:514352", "Serpentine-like syndrome": "ORPHA:514352", "Severe dilated cardiomyopathy due to lamin A/C mutation": "ORPHA:83618", "Severe dilated cardiomyopathy with or without myopathy": "ORPHA:83618", "Macrostomia-preauricular tags-external ophthalmoplegia syndrome": "ORPHA:83619", "Enteric anendocrinosis": "ORPHA:83620", "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells": "ORPHA:83620", "LUMBAR syndrome": "ORPHA:83628", "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome": "ORPHA:83628", "PELVIS syndrome": "ORPHA:83628", "Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome": "ORPHA:83628", "SACRAL syndrome": "ORPHA:83628", "Steroid-responsive encephalopathy associated with autoimmune thyroiditis": "ORPHA:83601", "Hashimoto encephalitis": "ORPHA:83601", "SREAT": "ORPHA:83601", "Rubella panencephalitis": "ORPHA:83616", "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome": "ORPHA:83617", "Eastern equine encephalitis": "ORPHA:83594", "Eastern equine encephalomyelitis": "ORPHA:83594", "Colorado tick fever": "ORPHA:83595", "American mountain fever": "ORPHA:83595", "Colorado tick encephalitis": "ORPHA:83595", "Colorado tick-borne disease": "ORPHA:83595", "Mountain fever": "ORPHA:83595", "Mountain tick fever": "ORPHA:83595", "Acute disseminated encephalomyelitis": "ORPHA:83597", "ADEM": "ORPHA:83597", "Acute disseminated encephalitis": "ORPHA:83597", "Encephalitis lethargica": "ORPHA:83600", "Von Economo encephalitis": "ORPHA:83600", "Mycoplasma encephalitis": "ORPHA:83482", "La Crosse encephalitis": "ORPHA:83483", "Californian encephalitis": "ORPHA:83483", "St. Louis encephalitis": "ORPHA:83484", "Saint Louis encephalitis": "ORPHA:83484", "Western equine encephalitis": "ORPHA:83593", "Western equine encephalomyelitis": "ORPHA:83593", "Hinman syndrome": "ORPHA:84085", "HAS": "ORPHA:84085", "HS": "ORPHA:84085", "Hinman-Allen syndrome": "ORPHA:84085", "Non-neurogenic neurogenic bladder": "ORPHA:84085", "Occult neuropathic bladder": "ORPHA:84085", "Senior-Boichis syndrome": "ORPHA:84081", "Boichis disease": "ORPHA:84081", "Nephronophthisis-hepatic fibrosis syndrome": "ORPHA:84081", "Fibronectin glomerulopathy": "ORPHA:84090", "GFND": "ORPHA:84090", "Glomerulopathy with fibronectin deposits": "ORPHA:84090", "Collagen type III glomerulopathy": "ORPHA:84087", "Collagenofibrotic glomerulopathy": "ORPHA:84087", "Syndromic diarrhea": "ORPHA:84064", "Phenotypic diarrhea": "ORPHA:84064", "SD/THE": "ORPHA:84064", "Syndromic diarrhea/Tricho-hepato-enteric syndrome": "ORPHA:84064", "Tricho-hepato-enteric syndrome": "ORPHA:84064", "Trichohepatoenteric syndrome": "ORPHA:84064", "Idiopathic malabsorption due to bile acid synthesis defects": "ORPHA:84065", "Idiopathic bile acid malabsorption": "ORPHA:84065", "Autosomal recessive spastic paraplegia type 78": "ORPHA:513436", "SPG78": "ORPHA:513436", "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency": "ORPHA:83639", "Congenital disorder of glycosylation due to PIGM deficiency": "ORPHA:83639", "PIGM-CDG": "ORPHA:83639", "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome": "ORPHA:83629", "H-SMD": "ORPHA:83629", "Hypomyelination-spondyloepimetaphyseal dysplasia syndrome": "ORPHA:83629", "Leukoencephalopathy-SEMD syndrome": "ORPHA:83629", "Leukoencephalopathy-metaphyseal chondrodysplasia syndrome": "ORPHA:83629", "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome": "ORPHA:513456", "Skraban-Deardorff syndrome": "ORPHA:513456", "OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome": "ORPHA:83648", "Microcytic anemia with liver iron overload": "ORPHA:83642", "Hypomyelination-congenital cataract syndrome": "ORPHA:85163", "Camptodactyly-tall stature-scoliosis-hearing loss syndrome": "ORPHA:85164", "CATSHL syndrome": "ORPHA:85164", "Camptodactyly-tall stature-scoliosis-deafness syndrome": "ORPHA:85164", "Neurogenic scapuloperoneal syndrome, Kaeser type": "ORPHA:85146", "Kaeser syndrome": "ORPHA:85146", "Stark-Kaeser syndrome": "ORPHA:85146", "Facial onset sensory and motor neuronopathy": "ORPHA:85162", "FOSMN syndrome": "ORPHA:85162", "Addison disease": "ORPHA:85138", "Autoimmune Addison disease": "ORPHA:85138", "Autoimmune adrenalitis": "ORPHA:85138", "Classic Addison disease": "ORPHA:85138", "Primary Addison disease": "ORPHA:85138", "NON RARE IN EUROPE: Aldosterone-producing adenoma": "ORPHA:85142", "NON RARE IN EUROPE: Aldosterone-secreting adenoma": "ORPHA:85142", "NON RARE IN EUROPE: Aldosteronoma": "ORPHA:85142", "NON RARE IN EUROPE: Conn adenoma": "ORPHA:85142", "NON RARE IN EUROPE: Primary aldosteronism due to Conn adenoma": "ORPHA:85142", "Bothnia retinal dystrophy": "ORPHA:85128", "V\u00e4sterbotten dystrophy": "ORPHA:85128", "Cystic leukoencephalopathy without megalencephaly": "ORPHA:85136", "CLWM": "ORPHA:85136", "Familial encephalopathy with neuroserpin inclusion bodies": "ORPHA:85110", "FENIB": "ORPHA:85110", "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome": "ORPHA:85112", "Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome": "ORPHA:85112", "Sporadic idiopathic steroid-resistant nephrotic syndrome": "ORPHA:84271", "Sporadic idiopathic nephrosis": "ORPHA:84271", "Perineurioma": "ORPHA:85102", "Desmin-related myopathy with Mallory body-like inclusions": "ORPHA:84132", "Early-onset desmin-related myopathy": "ORPHA:84132", "Isaacs syndrome": "ORPHA:84142", "Continuous muscle fiber activity syndrome": "ORPHA:84142", "Isaacs-Mertens syndrome": "ORPHA:84142", "Quantal squander syndrome": "ORPHA:84142", "Hereditary thermosensitive neuropathy": "ORPHA:84093", "OBSOLETE: Unknown leukodystrophy": "ORPHA:84096", "Endosteal sclerosis-cerebellar hypoplasia syndrome": "ORPHA:85186", "Craniometadiaphyseal dysplasia, wormian bone type": "ORPHA:85184", "Diaphyseal medullary stenosis-bone malignancy syndrome": "ORPHA:85182", "Bone dysplasia-medullary fibrosarcoma syndrome": "ORPHA:85182", "Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome": "ORPHA:85182", "Hardcastle syndrome": "ORPHA:85182", "Infantile osteopetrosis with neuroaxonal dysplasia": "ORPHA:85179", "Astley-Kendall dysplasia": "ORPHA:85175", "Pseudodiastrophic dysplasia": "ORPHA:85174", "IMAGe syndrome": "ORPHA:85173", "Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome": "ORPHA:85173", "Microcephalic osteodysplastic dysplasia, Saul-Wilson type": "ORPHA:85172", "Mesomelic dysplasia, Savarirayan type": "ORPHA:85170", "Mesomelic dysplasia with absent fibulas and triangular tibias": "ORPHA:85170", "Triangular tibia-fibular aplasia syndrome": "ORPHA:85170", "Familial digital arthropathy-brachydactyly": "ORPHA:85169", "Craniofacial conodysplasia": "ORPHA:85168", "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome": "ORPHA:85167", "SMD-CRD": "ORPHA:85167", "Platyspondylic dysplasia, Torrance type": "ORPHA:85166", "PLSD-T": "ORPHA:85166", "Platyspondylic dysplasia, Torrance-Luton type": "ORPHA:85166", "Platyspondylic lethal skeletal dysplasia, Torrance type": "ORPHA:85166", "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome": "ORPHA:85165", "SADDAN": "ORPHA:85165", "OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly": "ORPHA:98118", "OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly": "ORPHA:98119", "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly": "ORPHA:98120", "OBSOLETE: Cys-loop receptor channelopathy": "ORPHA:98121", "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome": "ORPHA:603448", "CIMDAG syndrome": "ORPHA:603448", "OBSOLETE: Channelopathy due to a neuronal glycine receptor defect": "ORPHA:98122", "OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect": "ORPHA:98123", "Isolated female hypospadias": "ORPHA:603515", "OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect": "ORPHA:98124", "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome": "ORPHA:603494", "COMMAD syndrome": "ORPHA:603494", "OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect": "ORPHA:98125", "KLHL7-related Bohring-Opitz-like syndrome": "ORPHA:603689", "KLHL7-related BOS-like syndrome": "ORPHA:603689", "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome": "ORPHA:603684", "PERCHING syndrome": "ORPHA:603684", "Autosomal anomaly syndrome": "ORPHA:98127", "Recessive KLHL7-related disorder": "ORPHA:603699", "KLHL7-related Crisponi/cold-induced sweating-like syndrome": "ORPHA:603694", "KLHL7-related Crisponi-like syndrome": "ORPHA:603694", "Autosomal trisomy syndrome": "ORPHA:98130", "Autosomal duplication": "ORPHA:98130", "Total autosomal trisomy syndrome": "ORPHA:98131", "Partial autosomal duplication/triplication syndrome": "ORPHA:98132", "Partial autosomal trisomy/tetrasomy": "ORPHA:98132", "OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect": "ORPHA:98103", "OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect": "ORPHA:98102", "OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels": "ORPHA:98105", "OBSOLETE: Channelopathy due to a transient receptor potential channel defect": "ORPHA:98104", "OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect": "ORPHA:98107", "OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect": "ORPHA:98106", "OBSOLETE: Non-pore-loop channelopathy": "ORPHA:98109", "OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect": "ORPHA:98108", "OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect": "ORPHA:98111", "OBSOLETE: Channelopathy due to an epithelial sodium channel defect": "ORPHA:98110", "OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly": "ORPHA:98113", "OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect": "ORPHA:98112", "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly": "ORPHA:98115", "OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly": "ORPHA:98114", "OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly": "ORPHA:98117", "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly": "ORPHA:98116", "Autosomal uniparental disomy syndrome": "ORPHA:98152", "Maternal uniparental disomy syndrome": "ORPHA:98153", "Sex-chromosome number anomaly syndrome": "ORPHA:98156", "Allosome number anomaly": "ORPHA:98156", "Sex-chromosome structural anomaly syndrome": "ORPHA:98157", "Allosome structural anomaly": "ORPHA:98157", "Paternal uniparental disomy syndrome": "ORPHA:98154", "Sex-chromosome anomaly syndrome": "ORPHA:98155", "Allosome anomaly": "ORPHA:98155", "Chromosome Y structural anomaly syndrome": "ORPHA:98158", "Chromosome X structural anomaly syndrome": "ORPHA:98159", "Total autosomal monosomy syndrome": "ORPHA:98141", "Partial autosomal deletion syndrome": "ORPHA:98142", "Partial autosomal monosomy": "ORPHA:98142", "Rare urinary tract tumor": "ORPHA:98058", "Rare urinary tract cancer": "ORPHA:98058", "Rare urinary tract neoplasm": "ORPHA:98058", "Rare digestive tumor": "ORPHA:98059", "Rare digestive cancer": "ORPHA:98059", "Rare digestive neoplasm": "ORPHA:98059", "Rare respiratory tumor": "ORPHA:98060", "Rare respiratory cancer": "ORPHA:98060", "Rare respiratory neoplasm": "ORPHA:98060", "Rare otorhinolaryngologic tumor": "ORPHA:98061", "Rare ORL cancer": "ORPHA:98061", "Rare ORL neoplasm": "ORPHA:98061", "Rare ORL tumor": "ORPHA:98061", "Rare genetic cardiac disease": "ORPHA:98054", "Rare genetic renal disease": "ORPHA:98056", "Rare tumor": "ORPHA:98057", "Rare neoplasm": "ORPHA:98057", "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome": "ORPHA:610573", "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly": "ORPHA:98068", "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy": "ORPHA:98069", "Rare nervous system tumor": "ORPHA:98062", "Rare nervous system neoplasm": "ORPHA:98062", "Rare gynecological tumor": "ORPHA:98063", "Rare gynaecological cancer": "ORPHA:98063", "Rare gynaecological neoplasm": "ORPHA:98063", "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome": "ORPHA:610569", "Alkuraya-Kucinskas syndrome": "ORPHA:610569", "OBSOLETE: Rare disease in physical medicine and rehabilitation": "ORPHA:98064", "Diaphragmatic or abdominal wall malformation": "ORPHA:98043", "Respiratory or mediastinal malformation": "ORPHA:98045", "Symptomatic form of X-linked centronuclear myopathy in female carriers": "ORPHA:604680", "Symptomatic form of X-linked myotubular myopathy in female carriers": "ORPHA:604680", "Symptomatic form of XLCNM in female carriers": "ORPHA:604680", "Symptomatic form of XLMTM in female carriers": "ORPHA:604680", "Central nervous system malformation": "ORPHA:98044", "Digestive tract malformation": "ORPHA:98039", "Cranial malformation": "ORPHA:98038", "Visceral malformation of the liver, biliary tract, pancreas or spleen": "ORPHA:98041", "Rare allergic disease": "ORPHA:98050", "Rare allergy": "ORPHA:98050", "Rare genetic disease": "ORPHA:98053", "Rare allergic respiratory disease": "ORPHA:98052", "Rare respiratory allergy": "ORPHA:98052", "Rare infertility": "ORPHA:98047", "Rare female infertility": "ORPHA:98049", "Rare male infertility": "ORPHA:98048", "46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue": "ORPHA:98086", "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue": "ORPHA:98086", "Syndrome with 46,XY difference of sex development": "ORPHA:98087", "Syndrome with 46,XY DSD": "ORPHA:98087", "Syndrome with 46,XY disorder of sex development": "ORPHA:98087", "OBSOLETE: Pore-loop channelopathy": "ORPHA:98101", "Autosomal recessive degenerative and progressive cerebellar ataxia": "ORPHA:98098", "Autosomal recessive syndromic cerebellar ataxia": "ORPHA:98099", "Autosomal recessive metabolic cerebellar ataxia": "ORPHA:98096", "Autosomal recessive cerebellar ataxia due to a DNA repair defect": "ORPHA:98097", "Autosomal recessive congenital cerebellar ataxia": "ORPHA:98095", "Pontocerebellar hypoplasia type 12": "ORPHA:611256", "COASY-related pontocerebellar hypoplasia": "ORPHA:611256", "PCH12": "ORPHA:611256", "Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome": "ORPHA:611314", "Parkinsonism with polyneuropathy": "ORPHA:611237", "Pontocerebellar hypoplasia type 11": "ORPHA:611247", "PCH11": "ORPHA:611247", "Pontocerebellar hypoplasia due to TBC1D23": "ORPHA:611247", "Gonadal dysgenesis of gynecological interest": "ORPHA:98074", "Aplastic anemia-intellectual disability-dwarfism syndrome": "ORPHA:611216", "AMeD syndrome": "ORPHA:611216", "OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia": "ORPHA:98073", "EN1-related dorsoventral syndrome": "ORPHA:611223", "ENDOVE syndrome": "ORPHA:611223", "ENDOVES": "ORPHA:611223", "Oculogastrointestinal-neurodevelopmental syndrome": "ORPHA:611201", "OGIN Syndrome": "ORPHA:611201", "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation": "ORPHA:98071", "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome": "ORPHA:611207", "SHILCA syndrome": "ORPHA:611207", "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine": "ORPHA:98070", "Pontocerebellar hypoplasia type 13": "ORPHA:613267", "PCH13": "ORPHA:613267", "46,XY difference of sex development": "ORPHA:98085", "46,XY DSD": "ORPHA:98085", "46,XY disorder of sex development": "ORPHA:98085", "Pontocerebellar hypoplasia type 14": "ORPHA:613274", "PCH14": "ORPHA:613274", "Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability": "ORPHA:611327", "Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism": "ORPHA:611327", "46,XX difference of sex development induced by androgens excess": "ORPHA:98078", "46,XX DSD induced by androgens excess": "ORPHA:98078", "46,XX disorder of sex development induced by androgens excess": "ORPHA:98078", "Chronic encephalitis": "ORPHA:98255", "Infantile epilepsy syndrome": "ORPHA:98258", "Neonatal epilepsy syndrome": "ORPHA:98257", "Adolescent-onset epilepsy syndrome": "ORPHA:98260", "Childhood-onset epilepsy syndrome": "ORPHA:98259", "Progressive myoclonic epilepsy": "ORPHA:98261", "PME": "ORPHA:98261", "Progressive myoclonus epilepsy": "ORPHA:98261", "Ehlers-Danlos syndrome": "ORPHA:98249", "EDS": "ORPHA:98249", "Legionella infection": "ORPHA:600832", "Legionellosis": "ORPHA:600832", "Infectious encephalitis": "ORPHA:98252", "OBSOLETE: Postinfectious encephalitis": "ORPHA:98253", "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome": "ORPHA:600668", "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance": "ORPHA:600663", "Combined deficiency of factor VII and factor X": "ORPHA:600691", "Clark-Baraitser syndrome": "ORPHA:600731", "Immunodeficiency-associated lymphoproliferative disease": "ORPHA:98290", "Dendritic cell tumor": "ORPHA:98289", "Macrophage or histiocytic tumor": "ORPHA:98288", "Histiocytic and dendritic cell tumor": "ORPHA:98287", "Hodgkin lymphoma": "ORPHA:98293", "Mastocytosis": "ORPHA:98292", "Lymphoproliferative disease associated with primary immune disease": "ORPHA:98291", "Plasma cell tumor": "ORPHA:98282", "Myeloproliferative neoplasm": "ORPHA:98274", "MPD": "ORPHA:98274", "MPN": "ORPHA:98274", "Myeloproliferative disorder": "ORPHA:98274", "Acute myeloid leukemia with recurrent genetic anomaly": "ORPHA:98277", "AML with recurrent genetic anomaly": "ORPHA:98277", "Myelodysplastic/myeloproliferative disease": "ORPHA:98275", "Genetic non-syndromic obesity": "ORPHA:98267", "Monogenic obesity due to a leptin-melanocortin pathway anomaly": "ORPHA:98267", "Malformation syndrome with hamartosis": "ORPHA:98196", "Dysmorphologic diseases with phakomatosis": "ORPHA:98196", "Non-syndromic anorectal malformation with rectovaginal fistula": "ORPHA:601028", "Non-syndromic ARM with rectovaginal fistula": "ORPHA:601028", "Non-syndromic anorectal malformation with H-type fistula": "ORPHA:601033", "Non-syndromic ARM with H-type fistula": "ORPHA:601033", "Non-syndromic anorectal malformation with anal stenosis": "ORPHA:601008", "Non-syndromic ARM with anal stenosis": "ORPHA:601008", "Non-syndromic anorectal malformation with pouch colon": "ORPHA:601013", "Non-syndromic ARM with pouch colon": "ORPHA:601013", "Non-syndromic anorectal malformation with rectal atresia": "ORPHA:601018", "Non-syndromic ARM with rectal atresia": "ORPHA:601018", "Non-syndromic anorectal malformation with rectal stenosis": "ORPHA:601023", "Non-syndromic ARM with rectal stenosis": "ORPHA:601023", "Non-syndromic anorectal malformation with rectovesical fistula": "ORPHA:600984", "Non-syndromic ARM with bladder neck fistula": "ORPHA:600984", "Non-syndromic ARM with rectovesical fistula": "ORPHA:600984", "Non-syndromic anorectal malformation with bladder neck fistula": "ORPHA:600984", "Non-syndromic anorectal malformation with vestibular fistula": "ORPHA:600993", "Non-syndromic ARM with vestibular fistula": "ORPHA:600993", "Non-syndromic cloacal malformation": "ORPHA:600998", "Non-syndromic anorectal malformation without fistula": "ORPHA:601002", "Non-syndromic ARM without fistula": "ORPHA:601002", "Non-syndromic anorectal malformation with no fistula": "ORPHA:601002", "Non-syndromic anorectal malformation with rectourethral fistula": "ORPHA:600961", "Non-syndromic ARM with rectourethral fistula": "ORPHA:600961", "Non-syndromic anorectal malformation with perineal fistula": "ORPHA:600952", "Non-syndromic ARM with cutaneous fistula": "ORPHA:600952", "Non-syndromic ARM with perineal fistula": "ORPHA:600952", "Non-syndromic anorectal malformation with cutaneous fistula": "ORPHA:600952", "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type": "ORPHA:600975", "Non-syndromic ARM with rectoprostatic fistula": "ORPHA:600975", "Non-syndromic ARM with rectourethral fistula, prostatic type": "ORPHA:600975", "Non-syndromic anorectal malformation with rectoprostatic fistula": "ORPHA:600975", "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type": "ORPHA:600966", "Non-syndromic ARM with rectobulbar fistula": "ORPHA:600966", "Non-syndromic ARM with rectourethral fistula, bulbar type": "ORPHA:600966", "Non-syndromic anorectal malformation with rectobulbar fistula": "ORPHA:600966", "OBSOLETE: Diabetes associated to exocrine pancreas neoplasia": "ORPHA:98167", "Combined dystonia": "ORPHA:98203", "Dystonia-plus syndrome": "ORPHA:98203", "OBSOLETE: Heredodegenerative disease with dystonia as a major feature": "ORPHA:98204", "Congenital myopathy": "ORPHA:97245", "Rigid spine syndrome": "ORPHA:97244", "Rigid spine congenital muscular dystrophy": "ORPHA:97244", "Congenital muscular dystrophy": "ORPHA:97242", "CMD": "ORPHA:97242", "MDC": "ORPHA:97242", "GRFoma": "ORPHA:97261", "GRF tumor": "ORPHA:97261", "Growth hormone releasing factor tumor": "ORPHA:97261", "Neuroendocrine tumor of pancreas": "ORPHA:97253", "PNET": "ORPHA:97253", "Pancreatic NET": "ORPHA:97253", "Pancreatic neuroendocrine tumor": "ORPHA:97253", "Well-differentiated NEN of pancreas": "ORPHA:97253", "Well-differentiated neuroendocrine neoplasm of pancreas": "ORPHA:97253", "Well-differentiated pancreatic NEN": "ORPHA:97253", "Well-differentiated pancreatic neuroendocrine neoplasm": "ORPHA:97253", "Mega-cisterna magna": "ORPHA:97252", "Pontocerebellar hypoplasia type 3": "ORPHA:97249", "Cerebellar atrophy with progressive microcephaly": "ORPHA:97249", "PCH3": "ORPHA:97249", "Insulinoma": "ORPHA:97279", "PPoma": "ORPHA:97278", "Pancreatic polypeptidoma": "ORPHA:97278", "Encephalitis": "ORPHA:97275", "Thyroid lymphoma": "ORPHA:97285", "Somatostatinoma": "ORPHA:97283", "VIPoma": "ORPHA:97282", "Diarrheogenic islet cell tumor": "ORPHA:97282", "Pancreatic cholera": "ORPHA:97282", "VIP-secreting tumor": "ORPHA:97282", "Verner-Morrison syndrome": "ORPHA:97282", "WDHA syndrome": "ORPHA:97282", "Watery diarrhea-hypokalemia-achlorhydria syndrome": "ORPHA:97282", "Glucagonoma": "ORPHA:97280", "Glucagonoma syndrome": "ORPHA:97280", "Thymic neuroendocrine tumor": "ORPHA:97289", "Familial papillary thyroid carcinoma with renal papillary neoplasia": "ORPHA:97290", "PTC-RCC": "ORPHA:97290", "Carney-Stratakis syndrome": "ORPHA:97286", "Carney dyad": "ORPHA:97286", "Carney-Stratakis dyad": "ORPHA:97286", "GIST-paraganglioma dyad": "ORPHA:97286", "Paraganglioma and gastric stromal sarcoma": "ORPHA:97286", "Bronchial neuroendocrine tumor": "ORPHA:97287", "Bronchial NET": "ORPHA:97287", "Rare benign ovarian tumor": "ORPHA:97293", "Furlong syndrome": "ORPHA:97295", "Marfanoid habitus-craniosynostosis syndrome": "ORPHA:97295", "Cardiogenic shock": "ORPHA:97292", "Kienbock disease": "ORPHA:97332", "Aseptic necrosis of the lunate bone": "ORPHA:97332", "Lunatomalacia": "ORPHA:97332", "Osteochondrosis of the lunate bone": "ORPHA:97332", "Progressive avascular necrosis of the lunate bone": "ORPHA:97332", "Osgood-Schlatter disease": "ORPHA:97335", "Aseptic necrosis of the tibial tubercle": "ORPHA:97335", "Osteochondrosis of the tibial tubercle": "ORPHA:97335", "Bohring-Opitz syndrome": "ORPHA:97297", "BOS syndrome": "ORPHA:97297", "Bohring syndrome": "ORPHA:97297", "C-like syndrome": "ORPHA:97297", "Oberklaid-Danks syndrome": "ORPHA:97297", "Opitz trigonocephaly-like syndrome": "ORPHA:97297", "Thoracic outlet syndrome": "ORPHA:97330", "TOS": "ORPHA:97330", "Thoracic outlet compression syndrome": "ORPHA:97330", "Melanoma of soft tissue": "ORPHA:97338", "Clear cell sarcoma of the tendons and aponeuroses": "ORPHA:97338", "Dural sinus malformation": "ORPHA:97339", "Cranial dural arteriovenous fistula": "ORPHA:97339", "Cranial dural arteriovenous malformations": "ORPHA:97339", "Panner disease": "ORPHA:97336", "Aseptic necrosis of the capital humerus": "ORPHA:97336", "Osteochondrosis of the capital humerus": "ORPHA:97336", "Sinding-Larsen-Johansson disease": "ORPHA:97337", "Aseptic necrosis of patella": "ORPHA:97337", "Osteochondrosis of patella": "ORPHA:97337", "Persistent placoid maculopathy": "ORPHA:97341", "Hunter-McAlpine syndrome": "ORPHA:97340", "OBSOLETE: Argyrophilic grain disease": "ORPHA:97342", "OBSOLETE: Braak disease": "ORPHA:97342", "ADan amyloidosis": "ORPHA:97346", "Familial dementia, Danish type": "ORPHA:97346", "ABri amyloidosis": "ORPHA:97345", "Familial dementia, British type": "ORPHA:97345", "Postencephalitic parkinsonism": "ORPHA:97349", "Pellagra": "ORPHA:97352", "NON RARE IN EUROPE: Wernicke encephalopathy": "ORPHA:97354", "NON RARE IN EUROPE: Dementia due to thiamine deficiency": "ORPHA:97354", "Dementia pugilistica": "ORPHA:97353", "Boxer's dementia": "ORPHA:97353", "Chronic traumatic encephalopathy": "ORPHA:97353", "Punch-drunk syndrome": "ORPHA:97353", "Robinow syndrome": "ORPHA:97360", "Acral dysostosis with facial and genital abnormalities": "ORPHA:97360", "Fetal face syndrome": "ORPHA:97360", "Mesomelic dwarfism-small genitalia syndrome": "ORPHA:97360", "Robinow dwarfism": "ORPHA:97360", "Robinow-Silverman-Smith syndrome": "ORPHA:97360", "Caribbean parkinsonism": "ORPHA:97355", "Atypical parkinsonism in the Caribbean": "ORPHA:97355", "Renal hypoplasia, unilateral": "ORPHA:97361", "Renal hypoplasia, bilateral": "ORPHA:97362", "Unilateral multicystic dysplastic kidney": "ORPHA:97363", "Unilateral MCDK": "ORPHA:97363", "Unilateral multicystic renal dysplasia": "ORPHA:97363", "Bilateral multicystic dysplastic kidney": "ORPHA:97364", "Bilateral MCDK": "ORPHA:97364", "Bilateral multicystic renal dysplasia": "ORPHA:97364", "NON RARE IN EUROPE: Solitary renal cyst": "ORPHA:97365", "NON RARE IN EUROPE: Simple kidney cyst": "ORPHA:97365", "Multiloculated renal cyst": "ORPHA:97366", "Multilocular cyst of the kidney": "ORPHA:97366", "Multilocular renal cyst": "ORPHA:97366", "Renal tubular dysgenesis due to twin-twin transfusion": "ORPHA:97367", "Drug-related renal tubular dysgenesis": "ORPHA:97368", "Renal tubular dysgenesis of genetic origin": "ORPHA:97369", "Right sided atrial isomerism": "ORPHA:97548", "Isomerism of right atrial appendage": "ORPHA:97548", "Ivemark syndrome": "ORPHA:97548", "RAI": "ORPHA:97548", "Steroid-sensitive nephrotic syndrome without renal biopsy": "ORPHA:97552", "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy": "ORPHA:97555", "Congenital and infantile nephrotic syndrome": "ORPHA:97556", "NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis": "ORPHA:97557", "NON RARE IN EUROPE: Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome": "ORPHA:97557", "Primary membranous glomerulonephritis": "ORPHA:97560", "Idiopathic membranous glomerulonephritis": "ORPHA:97560", "Primary membranous nephropathy": "ORPHA:97560", "Maternal uniparental disomy of chromosome 9 syndrome": "ORPHA:96183", "UPD(9)mat": "ORPHA:96183", "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7": "ORPHA:96182", "UPD(7)mat": "ORPHA:96182", "Maternal uniparental disomy of chromosome 6 syndrome": "ORPHA:96181", "UPD(6)mat": "ORPHA:96181", "Maternal uniparental disomy of chromosome 4 syndrome": "ORPHA:96180", "UPD(4)mat": "ORPHA:96180", "Maternal uniparental disomy of chromosome 2 syndrome": "ORPHA:96179", "UPD(2)mat": "ORPHA:96179", "Ring chromosome 16 syndrome": "ORPHA:96178", "Ring 16": "ORPHA:96178", "Ring chromosome 16": "ORPHA:96178", "Ring chromosome 15 syndrome": "ORPHA:96177", "Ring 15": "ORPHA:96177", "Ring chromosome 15": "ORPHA:96177", "Ring chromosome 13 syndrome": "ORPHA:96176", "Ring 13": "ORPHA:96176", "Ring chromosome 13": "ORPHA:96176", "Paternal uniparental disomy of chromosome 6 syndrome": "ORPHA:96191", "UPD(6)pat": "ORPHA:96191", "Paternal uniparental disomy of chromosome 5 syndrome": "ORPHA:96190", "UPD(5)pat": "ORPHA:96190", "Maternal uniparental disomy of chromosome 22 syndrome": "ORPHA:96188", "UPD(22)mat": "ORPHA:96188", "Maternal uniparental disomy of chromosome 21 syndrome": "ORPHA:96187", "UPD(21)mat": "ORPHA:96187", "Maternal uniparental disomy of chromosome 20 syndrome": "ORPHA:96186", "Maternal UPD(20)": "ORPHA:96186", "UPD(20)mat": "ORPHA:96186", "Maternal uniparental disomy of chromosome 16 syndrome": "ORPHA:96185", "UPD(16)mat": "ORPHA:96185", "Temple syndrome due to maternal uniparental disomy of chromosome 14": "ORPHA:96184", "UPD(14)mat": "ORPHA:96184", "Paternal uniparental disomy of chromosome 20 syndrome": "ORPHA:96194", "Paternal UPD(20)": "ORPHA:96194", "UPD(20)pat": "ORPHA:96194", "Paternal uniparental disomy of chromosome 21 syndrome": "ORPHA:96195", "UPD(21)pat": "ORPHA:96195", "Paternal uniparental disomy of chromosome 7 syndrome": "ORPHA:96192", "UPD(7)pat": "ORPHA:96192", "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11": "ORPHA:96193", "Mosaic paternal uniparental disomy of chromosome 11": "ORPHA:96193", "UPD(11)pat": "ORPHA:96193", "Somatotropic adenoma": "ORPHA:96256", "Somatotropinoma": "ORPHA:96256", "Rare genetic deafness": "ORPHA:96210", "Rare genetic hearing loss": "ORPHA:96210", "Cushing disease": "ORPHA:96253", "Corticotroph pituitary adenoma": "ORPHA:96253", "Pituitary corticotroph micro-adenoma": "ORPHA:96253", "Pituitary-dependent Cushing syndrome": "ORPHA:96253", "X small rings syndrome": "ORPHA:96201", "Polyploidy syndrome": "ORPHA:96321", "Isolated partial vaginal agenesis": "ORPHA:96269", "Congenital absence of vagina": "ORPHA:96269", "49,XXXXY syndrome": "ORPHA:96264", "48,XXXY syndrome": "ORPHA:96263", "Leydig cell hypoplasia due to partial LH resistance": "ORPHA:96266", "46,XY DSD due to partial LH receptor inactivation": "ORPHA:96266", "46,XY DSD due to partial LH resistance": "ORPHA:96266", "46,XY DSD due to partial luteinizing hormone resistance": "ORPHA:96266", "46,XY disorder of sex developement due to partial LH receptor inactivation": "ORPHA:96266", "46,XY disorder of sex developement due to partial LH resistance": "ORPHA:96266", "46,XY disorder of sex developement due to partial luteinizing hormone resistance": "ORPHA:96266", "Leydig cell hypoplasia due to partial LH receptor inactivation": "ORPHA:96266", "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation": "ORPHA:96266", "Leydig cell hypoplasia due to partial luteinizing hormone resistance": "ORPHA:96266", "Leydig cell hypoplasia due to complete LH resistance": "ORPHA:96265", "46,XY DSD due to complete LH receptor inactivation": "ORPHA:96265", "46,XY DSD due to complete LH resistance": "ORPHA:96265", "46,XY DSD due to complete luteinizing hormone receptor inactivation": "ORPHA:96265", "46,XY DSD due to complete luteinizing hormone resistance": "ORPHA:96265", "46,XY disorder of sex development due to complete LH receptor inactivation": "ORPHA:96265", "46,XY disorder of sex development due to complete LH resistance": "ORPHA:96265", "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation": "ORPHA:96265", "46,XY disorder of sex development due to complete luteinizing hormone resistance": "ORPHA:96265", "Leydig cell hypoplasia due to complete LH receptor inactivation": "ORPHA:96265", "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation": "ORPHA:96265", "Leydig cell hypoplasia due to complete luteinizing hormone resistance": "ORPHA:96265", "Rare gynecologic or obstetric disease": "ORPHA:96344", "Anorectal malformation": "ORPHA:96346", "ARM": "ORPHA:96346", "Isochromosome Y syndrome": "ORPHA:96325", "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14": "ORPHA:96334", "UPD(14)pat": "ORPHA:96334", "Rare otorhinolaryngological malformation": "ORPHA:96333", "Distal arthrogryposis": "ORPHA:97120", "Eisenmenger syndrome": "ORPHA:97214", "OBSOLETE: Early-onset schizophrenia": "ORPHA:96369", "Glycogen storage disease due to phosphoglycerate mutase deficiency": "ORPHA:97234", "DiMauro disease": "ORPHA:97234", "GSD due to phosphoglycerate mutase 2 deficiency": "ORPHA:97234", "GSD type 10": "ORPHA:97234", "Glycogen storage disease due to PGAM2 deficiency": "ORPHA:97234", "Glycogen storage disease due to phosphoglycerate mutase 2 deficiency": "ORPHA:97234", "Glycogen storage disease, type 10": "ORPHA:97234", "Glycogen storage disease, type X": "ORPHA:97234", "Glycogenosis due to phosphoglycerate mutase 2 deficiency": "ORPHA:97234", "Muscle phosphoglycerate mutase deficiency": "ORPHA:97234", "Myopathy due to phosphoglycerate mutase deficiency": "ORPHA:97234", "PGAM deficiency": "ORPHA:97234", "PGAM-M deficiency": "ORPHA:97234", "Rippling muscle disease": "ORPHA:97238", "Reducing body myopathy": "ORPHA:97239", "Zebra body myopathy": "ORPHA:97240", "Riboflavin transporter deficiency": "ORPHA:97229", "Brown-Vialetto-van Laere syndrome": "ORPHA:97229", "Solar urticaria": "ORPHA:97230", "Ligneous conjunctivitis": "ORPHA:97231", "Conjunctivitis lignosa": "ORPHA:97231", "Fingerprint body myopathy": "ORPHA:97232", "Rare endocrine disease": "ORPHA:97978", "Rare immune disease": "ORPHA:98004", "Rare hematologic disease": "ORPHA:97992", "Rare neurologic disease": "ORPHA:98006", "Rare nervous system disease": "ORPHA:98006", "Factor V Atlanta bleeding disorder": "ORPHA:600194", "FV Atlanta bleeding disorder": "ORPHA:600194", "Infectious disease of the nervous system": "ORPHA:98010", "Rare neurologic disease with psychiatric involvement": "ORPHA:98033", "Rare otorhinolaryngologic disease": "ORPHA:98036", "Rare systemic or rheumatologic disease": "ORPHA:98023", "Rare headache": "ORPHA:98022", "Rare disease with odontological manifestation": "ORPHA:98027", "Rare odontologic disease": "ORPHA:98026", "Rare circulatory system disease": "ORPHA:98028", "Maternal uniparental disomy of chromosome 13 syndrome": "ORPHA:97678", "UPD(13)mat": "ORPHA:97678", "OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis": "ORPHA:97599", "OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency": "ORPHA:97668", "Congenital renal artery stenosis": "ORPHA:97598", "Congenital renovascular hypoplasia": "ORPHA:97598", "Pseudohypoparathyroidism": "ORPHA:97593", "Immunotactoid glomerulopathy": "ORPHA:97567", "Immunotactoid glomerulonephritis": "ORPHA:97567", "OBSOLETE: Unclassified glomerulonephritis": "ORPHA:97569", "Pauci-immune glomerulonephritis without ANCA": "ORPHA:97564", "Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis": "ORPHA:97564", "Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody": "ORPHA:97564", "Non-amyloid fibrillary glomerulopathy": "ORPHA:97566", "Congo red-negative amyloidosis-like glomerulopathy": "ORPHA:97566", "Non-amyloid fibrillary glomerulonephritis": "ORPHA:97566", "NON RARE IN EUROPE: Benign familial hematuria": "ORPHA:97562", "Pauci-immune glomerulonephritis with ANCA": "ORPHA:97563", "Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody": "ORPHA:97563", "Rare gastroenterologic disease": "ORPHA:97935", "Rare cardiac disease": "ORPHA:97929", "OBSOLETE: Peripheral resistance to thyroid hormones": "ORPHA:97927", "17q11 microdeletion syndrome": "ORPHA:97685", "Del(17)(q11)": "ORPHA:97685", "Monosomy 17q11": "ORPHA:97685", "NF1 microdeletion syndrome": "ORPHA:97685", "Neurofibromatosis type 1 microdeletion syndrome": "ORPHA:97685", "Rare respiratory disease": "ORPHA:97955", "Intestinal malformation": "ORPHA:97945", "Gastroduodenal malformation": "ORPHA:97944", "Rare ophthalmic disorder": "ORPHA:97966", "Rare surgical thoracic disease": "ORPHA:97962", "Rare surgical cardiac disease": "ORPHA:97965", "Respiratory or thoracic malformation": "ORPHA:97957", "Idiopathic isolated micropenis": "ORPHA:95707", "Rare precocious puberty": "ORPHA:95708", "Non-syndromic posterior hypospadias": "ORPHA:95706", "Hypospadias, severe form": "ORPHA:95706", "Perineal, scrotal or penoscrotal hypospadias": "ORPHA:95706", "OBSOLETE: Congenital adrenal hypoplasia of maternal cause": "ORPHA:95701", "X-linked adrenal hypoplasia congenita": "ORPHA:95702", "X-linked AHC": "ORPHA:95702", "X-linked congenital adrenal hypoplasia": "ORPHA:95702", "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies": "ORPHA:95715", "Familial thyroid dyshormonogenesis": "ORPHA:95716", "Thyroid dyshormonogenesis": "ORPHA:95716", "Athyreosis": "ORPHA:95713", "Primary congenital hypothyroidism without thyroid developmental anomaly": "ORPHA:95714", "Congenital hypothyroidism due to developmental anomaly": "ORPHA:95711", "Primary congenital hypothyroidism due to developmental anomaly": "ORPHA:95711", "Thyroid ectopia": "ORPHA:95712", "Rare acquired premature ovarian failure": "ORPHA:95709", "Rare non-acquired premature ovarian failure": "ORPHA:95710", "OBSOLETE: Radiation-induced hypopituitarism": "ORPHA:95622", "OBSOLETE: Postsurgical hypopituitarism": "ORPHA:95621", "Post-traumatic pituitary deficiency": "ORPHA:95619", "Pituitary hormone deficiency secondary to storage disease": "ORPHA:95618", "Pituitary hormone deficiency secondary to a granulomatous disease": "ORPHA:95617", "OBSOLETE: Pituitary deficiency secondary to an anevrysm": "ORPHA:95615", "OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage": "ORPHA:95614", "Pituitary apoplexy": "ORPHA:95613", "Pituitary tumor apoplexy": "ORPHA:95613", "Familial adrenal hypoplasia with absent pituitary luteinizing hormone": "ORPHA:95700", "Familial adrenal hypoplasia with absent pituitary LH": "ORPHA:95700", "Familial adrenal hypoplasia, miniature type": "ORPHA:95700", "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency": "ORPHA:95699", "Congenital adrenal hyperplasia due to cytochrome POR deficiency": "ORPHA:95699", "POR deficiency": "ORPHA:95699", "PORD": "ORPHA:95699", "NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency": "ORPHA:95698", "NON RARE IN EUROPE: NCAH": "ORPHA:95698", "Acquired arginine vasopressin deficiency": "ORPHA:95626", "Acquired CDI": "ORPHA:95626", "Acquired neurogenic diabetes insipidus": "ORPHA:95626", "OBSOLETE: Posttraumatic diabetes insipidus": "ORPHA:95625", "OBSOLETE: Posttraumatic hypopituitarism": "ORPHA:95623", "OBSOLETE: Metastatic pituitary hormone deficiency": "ORPHA:95504", "Pituitary hormone deficiency of meningeal origin": "ORPHA:95505", "Primary hypophysitis": "ORPHA:95506", "Autoimmune hypophysitis": "ORPHA:95506", "Congenital anomaly of hepatic vein": "ORPHA:95507", "Congenital anomaly of the coronary sinus": "ORPHA:95500", "OBSOLETE: Congenital central diabetes insipidus": "ORPHA:95501", "Acquired pituitary hormone deficiency": "ORPHA:95502", "Pituitary hormone deficiency of tumoral origin": "ORPHA:95503", "Adenohypophysitis": "ORPHA:95512", "Anterior pituitary hypophysitis": "ORPHA:95512", "Panhypophysitis": "ORPHA:95513", "Infundibulo-panhypophysitis": "ORPHA:95513", "Pituitary hormone deficiency of vascular origin": "ORPHA:95611", "Atrial appendage anomaly": "ORPHA:95510", "Atrial auricle anomaly": "ORPHA:95510", "Non-acquired pituitary hormone deficiency": "ORPHA:95488", "Congenital coronary artery aneurysm": "ORPHA:95491", "Congenital coronary aneurysm": "ORPHA:95491", "Arterial duct anomaly": "ORPHA:95485", "Patent ductus arteriosus anomalies": "ORPHA:95485", "OBSOLETE: Aneurysm or dilatation of ascending aorta": "ORPHA:95484", "NON RARE IN EUROPE: Atypical arterial duct": "ORPHA:95487", "NON RARE IN EUROPE: Atypical patent ductus arteriosus": "ORPHA:95487", "Premature closure of the arterial duct": "ORPHA:95486", "Premature closure of the patent ductus arteriosus": "ORPHA:95486", "Pituitary stalk interruption syndrome": "ORPHA:95496", "Ectopic neurohypophysis": "ORPHA:95496", "PSIS": "ORPHA:95496", "Congenital anomaly of the inferior vena cava": "ORPHA:95499", "Congenital anomaly of the IVC": "ORPHA:95499", "Congenital anomaly of the inferior caval vein": "ORPHA:95499", "Congenital anomaly of superior vena cava": "ORPHA:95498", "Congenital anomaly of superior caval vein": "ORPHA:95498", "Congenital anomaly of the SVC": "ORPHA:95498", "OBSOLETE: Abnormal origin or aberrant course of coronary artery": "ORPHA:95493", "Disease associated with non-acquired combined pituitary hormone deficiency": "ORPHA:95495", "Combined pituitary hormone deficiencies, genetic forms": "ORPHA:95494", "Familial congenital hypopituitarism": "ORPHA:95494", "Multiple pituitary hormone deficiencies, genetic forms": "ORPHA:95494", "Mesocardia": "ORPHA:95443", "Midline heart": "ORPHA:95443", "Congenital aortic valve atresia": "ORPHA:95448", "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome": "ORPHA:95433", "Autosomal recessive spinocerebellar ataxia type 3": "ORPHA:95433", "Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome": "ORPHA:95433", "SCABD": "ORPHA:95433", "SCAR3": "ORPHA:95433", "Autosomal recessive cerebellar ataxia-movement disorder syndrome": "ORPHA:95434", "SCAR4": "ORPHA:95434", "SCASI": "ORPHA:95434", "Tricuspid valve agenesis": "ORPHA:95457", "Congenital unguarded tricuspid orifice": "ORPHA:95457", "OBSOLETE: Tricuspid valve prolapse": "ORPHA:95458", "OBSOLETE: Congenital aortic valve insufficiency": "ORPHA:95449", "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum": "ORPHA:95455", "Epidermal necrolysis": "ORPHA:95455", "SJS-TEN": "ORPHA:95455", "Accessory tricuspid valve tissue": "ORPHA:95462", "Anomaly of the tricuspid subvalvular apparatus": "ORPHA:95463", "Congenital tricuspid stenosis": "ORPHA:95459", "Straddling or overriding tricuspid valve": "ORPHA:95461", "Double-orifice mitral valve": "ORPHA:95474", "Univentricular cardiopathy": "ORPHA:95483", "Congenital mitral valve insufficiency and/or stenosis": "ORPHA:95464", "Cleft mitral valve": "ORPHA:95465", "Acute hepatic porphyria": "ORPHA:95157", "Lissencephaly due to LIS1 mutation": "ORPHA:95232", "PAFAH1B1-related lissencephaly": "ORPHA:95232", "OBSOLETE: Chronic hepatic porphyria": "ORPHA:95161", "Hepatoerythropoietic porphyria": "ORPHA:95159", "HEP": "ORPHA:95159", "COG8-CDG": "ORPHA:95428", "CDG syndrome type IIh": "ORPHA:95428", "CDG-IIh": "ORPHA:95428", "CDG2H": "ORPHA:95428", "Carbohydrate deficient glycoprotein syndrome type IIh": "ORPHA:95428", "Congenital disorder of glycosylation type 2h": "ORPHA:95428", "Congenital disorder of glycosylation type IIh": "ORPHA:95428", "Secondary short bowel syndrome": "ORPHA:95427", "OBSOLETE: Chronic pain requiring intraspinal analgesia": "ORPHA:95426", "Acute adrenal insufficiency": "ORPHA:95409", "Acute adrenal failure": "ORPHA:95409", "Acute adrenocortical insufficiency": "ORPHA:95409", "Addisonian crisis": "ORPHA:95409", "Adrenal crisis": "ORPHA:95409", "Adrenocortical crisis": "ORPHA:95409", "Primary progressive aphasia": "ORPHA:95432", "Mesulam syndrome": "ORPHA:95432", "PPA": "ORPHA:95432", "Twin to twin transfusion syndrome": "ORPHA:95431", "Feto-fetal transfusion syndrome": "ORPHA:95431", "Congenital tracheomalacia": "ORPHA:95430", "Congenital major airway collapse": "ORPHA:95430", "Angioma serpiginosum": "ORPHA:95429", "Mills syndrome": "ORPHA:94091", "Neuroleptic malignant syndrome": "ORPHA:94093", "OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome": "ORPHA:94095", "OBSOLETE: Casamassima-Morton-Nance syndrome": "ORPHA:94095", "Cerebellar ataxia, Cayman type": "ORPHA:94122", "Cayman ataxia": "ORPHA:94122", "Spinocerebellar ataxia with axonal neuropathy type 1": "ORPHA:94124", "SCAN1": "ORPHA:94124", "Recessive mitochondrial ataxia syndrome": "ORPHA:94125", "MIRAS": "ORPHA:94125", "Autosomal dominant cerebellar ataxia type I": "ORPHA:94145", "ADCA1": "ORPHA:94145", "ADCAI": "ORPHA:94145", "Autosomal dominant cerebellar ataxia type 1": "ORPHA:94145", "Cerebellar plus syndrome": "ORPHA:94145", "Spinocerebellar ataxia type 7": "ORPHA:94147", "Ataxia with pigmentary retinopathy": "ORPHA:94147", "Cerebellar syndrome-pigmentary maculopathy syndrome": "ORPHA:94147", "SCA7": "ORPHA:94147", "Autosomal dominant cerebellar ataxia type III": "ORPHA:94148", "ADCA3": "ORPHA:94148", "ADCAIII": "ORPHA:94148", "Autosomal dominant cerebellar ataxia type 3": "ORPHA:94148", "Pure cerebellar syndrome-mild pyramidal signs syndrome": "ORPHA:94148", "Autosomal dominant cerebellar ataxia type IV": "ORPHA:94149", "ADCA4": "ORPHA:94149", "ADCAIV": "ORPHA:94149", "Autosomal dominant cerebellar ataxia type 4": "ORPHA:94149", "Anonychia congenita totalis": "ORPHA:94150", "Deafness-infertility syndrome": "ORPHA:94064", "DIS": "ORPHA:94064", "Hearing loss-infertility syndrome": "ORPHA:94064", "12q14 microdeletion syndrome": "ORPHA:94063", "Del(12)(q14)": "ORPHA:94063", "Deletion 12q14": "ORPHA:94063", "Monosomy 12q14": "ORPHA:94063", "Osteopoikilosis-short stature-intellectual disability syndrome": "ORPHA:94063", "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia": "ORPHA:94066", "15q24 microdeletion syndrome": "ORPHA:94065", "Del(15)(q24)": "ORPHA:94065", "Monosomy 15q24": "ORPHA:94065", "Spondyloepiphyseal dysplasia congenita": "ORPHA:94068", "Congenital spondyloepiphyseal dysplasia": "ORPHA:94068", "SEDC": "ORPHA:94068", "Spranger-Wiedemann disease": "ORPHA:94068", "Severe immune-mediated enteropathy": "ORPHA:94075", "Autoimmune enteropathy": "ORPHA:94075", "Immune-mediated protracted diarrhea of infancy": "ORPHA:94075", "Partington syndrome": "ORPHA:94083", "Partington-Mulley syndrome": "ORPHA:94083", "X-linked intellectual disability-dystonia-dysarthria syndrome": "ORPHA:94083", "Non-functioning paraganglioma": "ORPHA:94080", "Non-secreting paraganglioma": "ORPHA:94080", "Blue diaper syndrome": "ORPHA:94086", "Drummond syndrome": "ORPHA:94086", "Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome": "ORPHA:94086", "Cerebro-oculo-facial-lymphatic syndrome": "ORPHA:94084", "Fryns-Aftimos syndrome": "ORPHA:94084", "Hereditary renal hypouricemia": "ORPHA:94088", "Familial renal hypouricemia": "ORPHA:94088", "Cytophagic histiocytic panniculitis": "ORPHA:94087", "CHP": "ORPHA:94087", "Winkelmann cytophagic panniculitis": "ORPHA:94087", "Pseudohypoparathyroidism type 2": "ORPHA:94090", "Pseudohypoparathyroidism type 1B": "ORPHA:94089", "Ring chromosome 11 syndrome": "ORPHA:96175", "RC11": "ORPHA:96175", "Ring 11": "ORPHA:96175", "Ring chromosome 11": "ORPHA:96175", "r(11) syndrome": "ORPHA:96175", "Ring chromosome 9 syndrome": "ORPHA:96173", "Ring 9": "ORPHA:96173", "Ring chromosome 9": "ORPHA:96173", "Ring chromosome 3 syndrome": "ORPHA:96172", "Ring 3": "ORPHA:96172", "Ring chromosome 3": "ORPHA:96172", "Ring chromosome 2 syndrome": "ORPHA:96171", "Ring 2": "ORPHA:96171", "Ring chromosome 2": "ORPHA:96171", "Emanuel syndrome": "ORPHA:96170", "Der(22)t(11;22) syndrome": "ORPHA:96170", "Supernumerary der(22) syndrome": "ORPHA:96170", "Koolen-De Vries syndrome": "ORPHA:96169", "KdVS": "ORPHA:96169", "Monosomy 13q34 syndrome": "ORPHA:96168", "Del(13)(q34)": "ORPHA:96168", "Distal deletion 13q34": "ORPHA:96168", "Subtelomeric deletion 13q34": "ORPHA:96168", "Recombinant 8 syndrome": "ORPHA:96167", "Duplication 8q/deletion 8p": "ORPHA:96167", "Rec(8) syndrome": "ORPHA:96167", "Rec8 syndrome": "ORPHA:96167", "Recombinant chromosome 8 syndrome": "ORPHA:96167", "San Luis Valley syndrome": "ORPHA:96167", "OBSOLETE: Non-distal monosomy 20q": "ORPHA:96164", "OBSOLETE: Non-distal deletion 20q": "ORPHA:96164", "OBSOLETE: Non-telomeric monosomy 20q": "ORPHA:96164", "Non-distal deletion 12q syndrome": "ORPHA:96160", "Non-distal monosomy 12q": "ORPHA:96160", "Non-telomeric monosomy 12q": "ORPHA:96160", "OBSOLETE: Distal monosomy 20q": "ORPHA:96152", "OBSOLETE: Distal deletion 20q": "ORPHA:96152", "OBSOLETE: Monosomy 20qter": "ORPHA:96152", "OBSOLETE: Telomeric deletion 20q": "ORPHA:96152", "Distal deletion 14q syndrome": "ORPHA:96150", "Distal monosomy 14q": "ORPHA:96150", "Telomeric deletion 14q": "ORPHA:96150", "Distal deletion 10q syndrome": "ORPHA:96148", "Deletion 10qter": "ORPHA:96148", "Distal monosomy 10q": "ORPHA:96148", "Monosomy 10qter": "ORPHA:96148", "Telomeric deletion 10q": "ORPHA:96148", "Distal deletion 12q syndrome": "ORPHA:96149", "Distal monosomy 12q": "ORPHA:96149", "Monosomy 12qter": "ORPHA:96149", "Telomeric deletion 12q": "ORPHA:96149", "Kleefstra syndrome due to 9q34 microdeletion": "ORPHA:96147", "9q subtelomeric deletion syndrome": "ORPHA:96147", "9qSTDS": "ORPHA:96147", "Kleefstra syndrome due to 9q subtelomeric deletion": "ORPHA:96147", "Kleefstra syndrome due to del(9)(q34)": "ORPHA:96147", "Kleefstra syndrome due to monosomy 9q34": "ORPHA:96147", "Distal deletion 4q syndrome": "ORPHA:96145", "Distal monosomy 4q": "ORPHA:96145", "Monosomy 4qter": "ORPHA:96145", "Telomeric deletion 4q": "ORPHA:96145", "OBSOLETE: Non-distal monosomy 7p": "ORPHA:96136", "OBSOLETE: Non-distal deletion 7p": "ORPHA:96136", "OBSOLETE: Non-telomeric monosomy 7p": "ORPHA:96136", "Distal deletion 19p syndrome": "ORPHA:96129", "Distal deletion 19p13.3": "ORPHA:96129", "Distal monosomy 19p13.3": "ORPHA:96129", "Telomeric deletion 19p": "ORPHA:96129", "Distal deletion 6p syndrome": "ORPHA:96125", "6p subtelomeric deletion syndrome": "ORPHA:96125", "6p25 microdeletion syndrome": "ORPHA:96125", "Distal deletion 6p25": "ORPHA:96125", "Monosomy 6p25": "ORPHA:96125", "Monosomy 6pter": "ORPHA:96125", "Distal deletion 7p syndrome": "ORPHA:96126", "Distal monosomy 7p": "ORPHA:96126", "Monosomy 7pter": "ORPHA:96126", "Telomeric deletion 7p": "ORPHA:96126", "7q11.23 microduplication syndrome": "ORPHA:96121", "Dup(7)(q11.23)": "ORPHA:96121", "Trisomy 7q11.23": "ORPHA:96121", "Monosomy 22 syndrome": "ORPHA:96123", "Del(22)": "ORPHA:96123", "Deletion 22": "ORPHA:96123", "Non-distal duplication 9q syndrome": "ORPHA:96112", "Non-distal trisomy 9q": "ORPHA:96112", "Non-telomeric trisomy 9q": "ORPHA:96112", "Distal duplication 20q syndrome": "ORPHA:96107", "Distal trisomy 20q": "ORPHA:96107", "Telomeric duplication 20q": "ORPHA:96107", "Trisomy 20qter": "ORPHA:96107", "Distal duplication 16q syndrome": "ORPHA:96106", "Distal trisomy 16q": "ORPHA:96106", "Telomeric duplication 16q": "ORPHA:96106", "Trisomy 16qter": "ORPHA:96106", "Distal duplication 13q syndrome": "ORPHA:96105", "Distal trisomy 13q": "ORPHA:96105", "Telomeric duplication 13q": "ORPHA:96105", "Trisomy 13qter": "ORPHA:96105", "Distal duplication 22q syndrome": "ORPHA:96109", "Distal trisomy 22q": "ORPHA:96109", "Telomeric duplication 22q": "ORPHA:96109", "Trisomy 22qter": "ORPHA:96109", "Distal duplication 6q syndrome": "ORPHA:96098", "Distal trisomy 6q": "ORPHA:96098", "Telomeric duplication 6q": "ORPHA:96098", "Trisomy 6qter": "ORPHA:96098", "Distal duplication 5q syndrome": "ORPHA:96097", "Distal trisomy 5q": "ORPHA:96097", "Telomeric duplication 5q": "ORPHA:96097", "Trisomy 5qter": "ORPHA:96097", "Distal duplication 4q syndrome": "ORPHA:96096", "Distal trisomy 4q": "ORPHA:96096", "Telomeric duplication 4q": "ORPHA:96096", "Trisomy 4qter": "ORPHA:96096", "Distal duplication 11q syndrome": "ORPHA:96103", "Distal trisomy 11q": "ORPHA:96103", "Telomeric duplication 11q": "ORPHA:96103", "Trisomy 11qter": "ORPHA:96103", "Distal duplication 10q syndrome": "ORPHA:96102", "Distal trisomy 10q": "ORPHA:96102", "Telomeric duplication 10q": "ORPHA:96102", "Trisomy 10qter": "ORPHA:96102", "Distal duplication 9q syndrome": "ORPHA:96101", "Distal trisomy 9q": "ORPHA:96101", "Telomeric duplication 9q": "ORPHA:96101", "Trisomy 9qter": "ORPHA:96101", "Distal duplication 8q syndrome": "ORPHA:96100", "Distal trisomy 8q": "ORPHA:96100", "Telomeric duplication 8q": "ORPHA:96100", "Trisomy 8qter": "ORPHA:96100", "Distal duplication 2q syndrome": "ORPHA:96094", "Distal trisomy 2q": "ORPHA:96094", "Telomeric duplication 2q": "ORPHA:96094", "Trisomy 2qter": "ORPHA:96094", "3q26 microduplication syndrome": "ORPHA:96095", "Dup(3)(q26)": "ORPHA:96095", "Dup(3q) syndrome": "ORPHA:96095", "Trisomy 3q26": "ORPHA:96095", "8p inverted duplication/deletion syndrome": "ORPHA:96092", "Invdupdel(8p)": "ORPHA:96092", "Inverted 8p duplication/deletion syndrome": "ORPHA:96092", "4p16.3 microduplication syndrome": "ORPHA:96072", "Distal duplication 4p": "ORPHA:96072", "Distal trisomy 4p": "ORPHA:96072", "Telomeric duplication 4p": "ORPHA:96072", "Trisomy 4pter": "ORPHA:96072", "Distal duplication 7p syndrome": "ORPHA:96074", "Distal trisomy 7p": "ORPHA:96074", "Telomeric duplication 7p": "ORPHA:96074", "Trisomy 7pter": "ORPHA:96074", "Beckwith-Wiedemann syndrome due to 11p15 microduplication": "ORPHA:96076", "16p13.3 microduplication syndrome": "ORPHA:96078", "Distal duplication 16p": "ORPHA:96078", "Distal trisomy 16p": "ORPHA:96078", "Dup(16)(p13.3)": "ORPHA:96078", "Telomeric duplication 16p": "ORPHA:96078", "Trisomy 16pter": "ORPHA:96078", "Distal duplication 1p36 syndrome": "ORPHA:96069", "Distal trisomy 1p36": "ORPHA:96069", "Telomeric duplication 1p36": "ORPHA:96069", "Trisomy 1pter": "ORPHA:96069", "Mosaic trisomy 22 syndrome": "ORPHA:96068", "Mosaic trisomy chromosome 22": "ORPHA:96068", "Trisomy 22 mosaicism": "ORPHA:96068", "Distal duplication 3p syndrome": "ORPHA:96071", "Distal trisomy 3p": "ORPHA:96071", "Telomeric duplication 3p": "ORPHA:96071", "Trisomy 3pter": "ORPHA:96071", "Distal duplication 2p syndrome": "ORPHA:96070", "Distal trisomy 2p": "ORPHA:96070", "Telomeric duplication 2p": "ORPHA:96070", "Trisomy 2pter": "ORPHA:96070", "Mosaic trisomy 4 syndrome": "ORPHA:96059", "Mosaic trisomy chromosome 4": "ORPHA:96059", "Trisomy 4 mosaicism": "ORPHA:96059", "Mosaic trisomy 5 syndrome": "ORPHA:96060", "Mosaic trisomy chromosome 5": "ORPHA:96060", "Trisomy 5 mosaicism": "ORPHA:96060", "Mosaic trisomy 8 syndrome": "ORPHA:96061", "Mosaic trisomy chromosome 8": "ORPHA:96061", "Trisomy 8 mosaicism": "ORPHA:96061", "Warkany syndrome": "ORPHA:96061", "Mosaic trisomy 10 syndrome": "ORPHA:96063", "Mosaic trisomy chromosome 10": "ORPHA:96063", "Trisomy 10 mosaicism": "ORPHA:96063", "Idiopathic congenital hypothyroidism": "ORPHA:95717", "Congenital thyroid malformation without hypothyroidism": "ORPHA:95718", "Thyroid hemiagenesis": "ORPHA:95719", "Thyroid hypoplasia": "ORPHA:95720", "OBSOLETE: Thyroid pyramidal lobe": "ORPHA:95721", "Levocardia": "ORPHA:95854", "Isolated levocardia": "ORPHA:95854", "Levocardia with situs inversus": "ORPHA:95854", "Tetrasomy 21 syndrome": "ORPHA:96055", "Isochromosome 21": "ORPHA:96055", "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome": "ORPHA:597623", "Syndromic renal or urinary tract malformation": "ORPHA:93547", "Non-syndromic renal or urinary tract malformation": "ORPHA:93546", "Oculocutaneous albinism type 8": "ORPHA:597733", "OCA8": "ORPHA:597733", "Luscan-Lumish syndrome": "ORPHA:597738", "SETD2-related overgrowth syndrome": "ORPHA:597738", "Glomerular disease": "ORPHA:93548", "Renal or urinary tract malformation": "ORPHA:93545", "CAKUT": "ORPHA:93545", "Congenital anomalies of kidney and urinary tract": "ORPHA:93545", "ALPI-related inflammatory bowel disease": "ORPHA:597887", "Mixed cryoglobulinemia type III": "ORPHA:93555", "MC type III": "ORPHA:93555", "Mixed cryoglobulinemia type II": "ORPHA:93554", "MC type II": "ORPHA:93554", "Light and heavy chain deposition disease": "ORPHA:93557", "LHCDD": "ORPHA:93557", "Euthyroid dysprealbuminemic hyperthyroxinemia": "ORPHA:597939", "Euthyroid dystransthyretinemic hyperthyroxinemia": "ORPHA:597939", "Heavy chain deposition disease": "ORPHA:93556", "HCDD": "ORPHA:93556", "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome": "ORPHA:597743", "OBSOLETE: Secondary glomerular disease": "ORPHA:93551", "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome": "ORPHA:597746", "OBSOLETE: Basement membrane disease": "ORPHA:93550", "KAT6B-related multiple congenital anomalies syndrome": "ORPHA:597749", "KAT6B-related disorder": "ORPHA:597749", "Pediatric systemic lupus erythematosus": "ORPHA:93552", "SLE, pediatric onset": "ORPHA:93552", "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome": "ORPHA:597874", "AFib amyloidosis": "ORPHA:93562", "Familial amyloid nephropathy due to fibrinogen A alpha-chain variant": "ORPHA:93562", "Fibrinogen A alpha-chain amyloidosis": "ORPHA:93562", "Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant": "ORPHA:93562", "Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant": "ORPHA:93562", "Upper tract urothelial carcinoma": "ORPHA:598216", "Transitional cell carcinoma of the pelvis and ureter": "ORPHA:598216", "Transitional cell carcinoma of the upper urinary tract": "ORPHA:598216", "UTUC": "ORPHA:598216", "OBSOLETE: Pediatric polyarteritis nodosa": "ORPHA:93564", "OBSOLETE: PAN, pediatric onset": "ORPHA:93564", "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome": "ORPHA:598603", "FHEIG syndrome": "ORPHA:598603", "Multisystem inflammatory syndrome in children and adults": "ORPHA:598363", "MIS-C/A": "ORPHA:598363", "Light chain deposition disease": "ORPHA:93558", "LCDD": "ORPHA:93558", "C3 deposition glomerulonephritis without proliferation": "ORPHA:93559", "FOXG1 syndrome due to intragenic alteration": "ORPHA:598164", "AApoAI amyloidosis": "ORPHA:93560", "Apolipoprotein A-I amyloidosis": "ORPHA:93560", "Familial amyloid nephropathy due to apolipoprotein A-I variant": "ORPHA:93560", "Familial renal amyloidosis due to apolipoprotein A-I variant": "ORPHA:93560", "Hereditary amyloid nephropathy due to apolipoprotein A-I variant": "ORPHA:93560", "Hereditary renal amyloidosis due to apolipoprotein A-I variant": "ORPHA:93560", "ALys amyloidosis": "ORPHA:93561", "Familial amyloid nephropathy due to lysozyme variant": "ORPHA:93561", "Familial renal amyloidosis due to lysozyme variant": "ORPHA:93561", "Hereditary amyloid nephropathy due to lysozyme variant": "ORPHA:93561", "Hereditary renal amyloidosis due to lysozyme variant": "ORPHA:93561", "Lysozyme amyloidosis": "ORPHA:93561", "Dense deposit disease": "ORPHA:93571", "Membranoproliferative glomerulonephritis type 2": "ORPHA:93571", "Thrombotic microangiopathy": "ORPHA:93573", "TMA": "ORPHA:93573", "OBSOLETE: Pediatric Sj\u00f6gren syndrome": "ORPHA:93566", "OBSOLETE: Pediatric systemic sclerosis": "ORPHA:93567", "OBSOLETE: Pediatric systemic scleroderma": "ORPHA:93567", "Juvenile polymyositis": "ORPHA:93568", "Juvenile PM": "ORPHA:93568", "NON RARE IN EUROPE: Polymyalgia rheumatica": "ORPHA:93569", "NON RARE IN EUROPE: Rhizomelic pseudopolyarthritis": "ORPHA:93569", "Lysosomal storage disease with skeletal involvement": "ORPHA:93448", "Dysostosis multiplex": "ORPHA:93448", "TRIM22-related inflammatory bowel disease": "ORPHA:597201", "TRIM22-related IBD": "ORPHA:597201", "Primary bone dysplasia with defective bone mineralization": "ORPHA:93447", "Primary osteodysplasia with defective bone mineralization": "ORPHA:93447", "Primary skeletal dysplasia with defective bone mineralization": "ORPHA:93447", "Primary bone dysplasia with decreased bone density": "ORPHA:93446", "Primary osteodysplasia with decreased bone density": "ORPHA:93446", "Primary skeletal dysplasia with decreased bone density": "ORPHA:93446", "OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement": "ORPHA:93445", "Primary bone dysplasia with increased bone density": "ORPHA:93444", "Primary osteodysplasia with increased bone density": "ORPHA:93444", "Primary skeletal dysplasia with increased bone density": "ORPHA:93444", "Sclerosing bone dysplasia": "ORPHA:93444", "Neonatal osteosclerotic dysplasia": "ORPHA:93443", "Chondrodysplasia punctata": "ORPHA:93442", "CDP": "ORPHA:93442", "Primary bone dysplasia with multiple joint dislocations": "ORPHA:93441", "Primary osteodysplasia with multiple joint dislocations": "ORPHA:93441", "Primary skeletal dysplasia with multiple joint dislocations": "ORPHA:93441", "OBSOLETE: Brachydactyly group": "ORPHA:93456", "OBSOLETE: Brachydactyly with or without extraskeletal manifestations": "ORPHA:93456", "Patellar dysostosis": "ORPHA:93455", "Dysostosis with predominant vertebral and costal involvement": "ORPHA:93454", "Dysostosis with predominant craniofacial involvement": "ORPHA:93453", "OBSOLETE: Craniosynostosis syndrome or cranial ossification disease": "ORPHA:93452", "Cleidocranial dysplasia and isolated cranial ossification defect": "ORPHA:93451", "Primary bone dysplasia with disorganized development of skeletal components": "ORPHA:93450", "Primary osteodysplasia with disorganized development of skeletal components": "ORPHA:93450", "Primary skeletal dysplasia with disorganized development of skeletal components": "ORPHA:93450", "Primary osteolysis": "ORPHA:93449", "Lethal chondrodysplasia": "ORPHA:93465", "Chromosomal disease with overgrowth": "ORPHA:93461", "Syndrome with synostosis or other joint formation defect": "ORPHA:93459", "Overgrowth syndrome": "ORPHA:93460", "Non-syndromic limb reduction defect": "ORPHA:93457", "Non-syndromic limb hypoplasia": "ORPHA:93457", "Non-syndromic polydactyly, syndactyly and/or hyperphalangy": "ORPHA:93458", "Scheie syndrome": "ORPHA:93474", "MPS1S": "ORPHA:93474", "MPSIS": "ORPHA:93474", "Mucopolysaccharidosis type 1S": "ORPHA:93474", "Mucopolysaccharidosis type IS": "ORPHA:93474", "Hurler-Scheie syndrome": "ORPHA:93476", "MPS1H/S": "ORPHA:93476", "MPSIH/S": "ORPHA:93476", "Mucopolysaccharidosis type 1H/S": "ORPHA:93476", "Mucopolysaccharidosis type IH/S": "ORPHA:93476", "OBSOLETE: Dysmorphic syndrome associated with bone anomaly": "ORPHA:93472", "Hurler syndrome": "ORPHA:93473", "Hurler disease": "ORPHA:93473", "MPS1H": "ORPHA:93473", "MPSIH": "ORPHA:93473", "Mucopolysaccharidosis type 1H": "ORPHA:93473", "Mucopolysaccharidosis type IH": "ORPHA:93473", "OBSOLETE: Dysharmonic micromelia": "ORPHA:93470", "OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly": "ORPHA:93471", "OBSOLETE: Limb-girdle bone anomaly": "ORPHA:93466", "OBSOLETE: Harmonic micromelia": "ORPHA:93469", "Juvenile sialidosis type 2": "ORPHA:93399", "Genochondromatosis type 2": "ORPHA:93398", "Congenital sialidosis type 2": "ORPHA:93400", "STXBP1-related encephalopathy": "ORPHA:599373", "Syndactyly type 2": "ORPHA:93403", "Synpolydactyly": "ORPHA:93403", "Hypomyelination of early myelinating structures": "ORPHA:599376", "HEMS": "ORPHA:599376", "Syndactyly type 1": "ORPHA:93402", "Syndactyly type 4": "ORPHA:93405", "Polysyndactyly, Haas type": "ORPHA:93405", "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant": "ORPHA:599418", "Syndactyly type 3": "ORPHA:93404", "SD3": "ORPHA:93404", "Syndactyly of fingers 4 and 5": "ORPHA:93404", "Acquired hemophilia A": "ORPHA:599480", "AHA": "ORPHA:98375", "Acquired F8 deficiency": "ORPHA:599480", "Acquired factor VIII deficiency": "ORPHA:599480", "Acquired hemophilia B": "ORPHA:599485", "AHB": "ORPHA:599485", "Acquired F9 deficiency": "ORPHA:599485", "Acquired factor IX deficiency": "ORPHA:599485", "Syndactyly type 5": "ORPHA:93406", "Postaxial syndactyly with metacarpal synostosis": "ORPHA:93406", "SD5": "ORPHA:93406", "Acquired factor V deficiency": "ORPHA:599490", "Brachydactyly-syndactyly, Zhao type": "ORPHA:93409", "Acquired factor VII deficiency": "ORPHA:599495", "Acquired factor X deficiency": "ORPHA:599501", "aFX": "ORPHA:599501", "Rare bone disease": "ORPHA:93419", "Acquired factor XI deficiency": "ORPHA:599507", "aFXI": "ORPHA:599507", "Acquired factor XIII deficiency": "ORPHA:599513", "aFXIII": "ORPHA:599513", "Type 2 collagen-related bone disorder": "ORPHA:93421", "Factor V short isoforms-related bleeding disorder": "ORPHA:599519", "FV short isoforms-related bleeding disorder": "ORPHA:599519", "FGFR3-related chondrodysplasia": "ORPHA:93420", "Factor V Amsterdam bleeding disorder": "ORPHA:599579", "FV Amsterdam bleeding disorder": "ORPHA:599579", "Type 11 collagen-related bone disorder": "ORPHA:93422", "Sulfation-related bone disorder": "ORPHA:93423", "OBSOLETE: Perlecan-related bone disorder": "ORPHA:93424", "Filamin-related bone disorder": "ORPHA:93425", "Bone filaminopathy": "ORPHA:93425", "Ciliopathies with major skeletal involvement": "ORPHA:93426", "SRP": "ORPHA:93426", "Short rib dysplasia": "ORPHA:93426", "OBSOLETE: Metatropic dysplasias": "ORPHA:93427", "Multiple epiphyseal dysplasia and pseudoachondroplasia": "ORPHA:93429", "Multiple metaphyseal dysplasia": "ORPHA:93430", "Spondylodysplastic dysplasia": "ORPHA:93434", "OBSOLETE: Moderate spondylodysplastic dysplasia": "ORPHA:93435", "Acromelic dysplasia": "ORPHA:93436", "Acromesomelic dysplasia": "ORPHA:93437", "Mesomelic and rhizo-mesomelic dysplasia": "ORPHA:93438", "Campomelic dysplasia and related disorders": "ORPHA:93439", "Bent bone dysplasia": "ORPHA:93439", "Slender bone dysplasia": "ORPHA:93440", "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type": "ORPHA:93360", "SEMD-MD": "ORPHA:93360", "SEMDJL2": "ORPHA:93360", "Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type": "ORPHA:93360", "Spondyloepimetaphyseal dysplasia with joint laxity type 2": "ORPHA:93360", "Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type": "ORPHA:93360", "OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity": "ORPHA:93359", "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome": "ORPHA:93358", "SPONASTRIME dysplasia": "ORPHA:93357", "Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia": "ORPHA:93357", "Spondyloepimetaphyseal dysplasia, Sponastrime type": "ORPHA:93357", "OBSOLETE: CINCA syndrome with NLRP3 mutations": "ORPHA:93365", "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome": "ORPHA:599082", "Snijders Blok-Campeau syndrome": "ORPHA:599082", "OBSOLETE: CINCA syndrome without NLRP3 mutations": "ORPHA:93367", "Familial hypocalciuric hypercalcemia type 1": "ORPHA:93372", "FHH type 1": "ORPHA:93372", "Brachydactyly type A6": "ORPHA:93382", "Acromesomelic dysplasia, Osebold-Remondini type": "ORPHA:93382", "Osebold-Remondini syndrome": "ORPHA:93382", "Brachydactyly type B": "ORPHA:93383", "Brachydactyly type E": "ORPHA:93387", "Brachydactyly type A1": "ORPHA:93388", "Brachydactyly, Farabee type": "ORPHA:93388", "Brachydactyly type C": "ORPHA:93384", "NON RARE IN EUROPE: Brachydactyly type D": "ORPHA:93385", "NON RARE IN EUROPE: Brachydactyly type A3": "ORPHA:93393", "NON RARE IN EUROPE: Brachydactyly-clinodactyly": "ORPHA:93393", "NON RARE IN EUROPE: Brachymesophalangy V": "ORPHA:93393", "Brachydactyly type A5": "ORPHA:93389", "Brachydactyly type A2": "ORPHA:93396", "Brachydactyly, Mohr-Wriedt type": "ORPHA:93396", "Brachydactyly type A7": "ORPHA:93397", "Brachydactyly, Smorgasbord type": "ORPHA:93397", "Brachydactyly type A4": "ORPHA:93394", "Brachydactyly, Temtamy type": "ORPHA:93394", "Brachymesophalangy II and V": "ORPHA:93394", "Ballard syndrome": "ORPHA:93395", "Brachydactyly, combined B and E types": "ORPHA:93395", "Pitt-Williams brachydactyly": "ORPHA:93395", "Localized dystrophic epidermolysis bullosa": "ORPHA:595356", "Localized DEB": "ORPHA:595356", "Meningocele": "ORPHA:93968", "Open spinal dysraphism with a myelomeningocele": "ORPHA:93969", "MMC": "ORPHA:93969", "Myelomeningocele": "ORPHA:93969", "Adrenal hypoplasia congenita": "ORPHA:595337", "Congenital adrenal hypoplasia": "ORPHA:595337", "Primary adrenal hypoplasia": "ORPHA:595337", "OBSOLETE: Cervical dystonia": "ORPHA:93962", "OBSOLETE: Autosomal dominant focal dystonia, DYT7 type": "ORPHA:93963", "OBSOLETE: Adult-onset focal torsion dystonia": "ORPHA:93963", "OBSOLETE: Adult-onset idiopathic torsion dystonia": "ORPHA:93963", "OBSOLETE: DYT7": "ORPHA:93963", "Epidermolysis bullosa simplex with extracutaneous involvement": "ORPHA:595351", "EBS with extracutaneous involvement": "ORPHA:595351", "Blepharospasm-oromandibular dystonia syndrome": "ORPHA:93964", "Meige dystonia": "ORPHA:93964", "Meige syndrome": "ORPHA:93964", "Epidermolysis bullosa simplex without extracutaneous involvement": "ORPHA:595346", "EBS without extracutaneous involvement": "ORPHA:595346", "Oromandibular dystonia": "ORPHA:93958", "Fibrous dysplasia/McCune-Albright syndrome": "ORPHA:595216", "FD/MAS spectrum": "ORPHA:595216", "FD/MAS syndrome": "ORPHA:595216", "Fibrous dysplasia/McCune-Albright spectrum": "ORPHA:595216", "OBSOLETE: Laryngeal dyskinesia": "ORPHA:93961", "OBSOLETE: Laryngeal dystonia": "ORPHA:93961", "OBSOLETE: Spasmodic dysphonia": "ORPHA:93961", "OBSOLETE: Benign essential blepharospasm": "ORPHA:93955", "OBSOLETE: Primary blepharospasm": "ORPHA:93955", "OBSOLETE: Truncal dystonia": "ORPHA:93956", "OBSOLETE: Limb dystonia": "ORPHA:93957", "Uremic pruritus": "ORPHA:94059", "NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome": "ORPHA:94062", "OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome": "ORPHA:94061", "Neovascular glaucoma": "ORPHA:94058", "Isolated humero-ulnar synostosis": "ORPHA:94056", "Isolated congenital humeroulnar fusion": "ORPHA:94056", "OBSOLETE: Renier-Gabreels-Jasper syndrome": "ORPHA:93975", "Smith-Fineman-Myers syndrome": "ORPHA:93974", "Anotia": "ORPHA:93976", "Chudley-Lowry-Hoar syndrome": "ORPHA:93971", "Chudley-Lowry syndrome": "ORPHA:93971", "Holmes-Gang syndrome": "ORPHA:93970", "Carpenter-Waziri syndrome": "ORPHA:93973", "Juberg-Marsidi syndrome": "ORPHA:93972", "FG syndrome type 1": "ORPHA:93932", "Opitz-Kaveggia syndrome": "ORPHA:93932", "Bladder exstrophy": "ORPHA:93930", "Classic exstrophy of the bladder": "ORPHA:93930", "Isolated epispadias": "ORPHA:93928", "Cloacal exstrophy": "ORPHA:93929", "OEIS complex": "ORPHA:93929", "Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome": "ORPHA:93929", "Midline interhemispheric variant of holoprosencephaly": "ORPHA:93926", "MIH": "ORPHA:93926", "MIH type HPE": "ORPHA:93926", "MIHF": "ORPHA:93926", "MIHV": "ORPHA:93926", "Middle interhemispheric fusion variant": "ORPHA:93926", "Middle interhemispheric variant of holoprosencephaly": "ORPHA:93926", "Syntelencephaly": "ORPHA:93926", "Lobar holoprosencephaly": "ORPHA:93924", "Alobar holoprosencephaly": "ORPHA:93925", "Full schwannomatosis": "ORPHA:93921", "Full NF3": "ORPHA:93921", "Full SWN": "ORPHA:93921", "Full neurofibromatosis type 3": "ORPHA:93921", "Neurilemmomatosis": "ORPHA:93921", "Nonmosaic schwannomatosis": "ORPHA:93921", "Familial thyroglossal duct cyst": "ORPHA:93953", "X-linked intellectual disability, Hedera type": "ORPHA:93952", "MRXSH": "ORPHA:93952", "Atypical Timothy syndrome": "ORPHA:595109", "Atypical LQT8": "ORPHA:595109", "OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome": "ORPHA:93951", "Perivascular epithelioid cell neoplasm": "ORPHA:595133", "PEComa": "ORPHA:595133", "Perivascular epithelioid tumour": "ORPHA:595133", "X-linked intellectual disability, Sutherland-Haan type": "ORPHA:93950", "Timothy syndrome type 1": "ORPHA:595098", "LQT8 type 1": "ORPHA:595098", "TS1": "ORPHA:595098", "X-linked intellectual disability, Golabi-Ito-Hall type": "ORPHA:93947", "Timothy syndrome type 2": "ORPHA:595105", "LQT8 type 2": "ORPHA:595105", "TS2": "ORPHA:595105", "Hamel cerebro-palato-cardiac syndrome": "ORPHA:93946", "X-linked intellectual disability, Porteous type": "ORPHA:93945", "X-linked intellectual disability, Fichera type": "ORPHA:93944", "Corpus callosum dysgenesis-hypopituitarism syndrome": "ORPHA:93943", "OBSOLETE: Superior celosomia": "ORPHA:93942", "Laryngotracheoesophageal cleft type 4": "ORPHA:93941", "LTEC IV": "ORPHA:93941", "LTEC4": "ORPHA:93941", "Laryngo-tracheo-esophageal cleft type 4": "ORPHA:93941", "Laryngotracheoesophageal cleft type 3": "ORPHA:93940", "LTEC III": "ORPHA:93940", "LTEC3": "ORPHA:93940", "Laryngo-tracheo-esophageal cleft type 3": "ORPHA:93940", "Laryngotracheoesophageal cleft type 2": "ORPHA:93939", "LTEC II": "ORPHA:93939", "LTEC2": "ORPHA:93939", "Laryngo-tracheo-esophageal cleft type 2": "ORPHA:93939", "Laryngotracheoesophageal cleft type 1": "ORPHA:93938", "LTEC I": "ORPHA:93938", "LTEC1": "ORPHA:93938", "Laryngo-tracheo-esophageal cleft type 1": "ORPHA:93938", "OBSOLETE: Terminal transverse defects of arm": "ORPHA:93937", "OBSOLETE: Congenital limb amputation": "ORPHA:93937", "Rare renal disease": "ORPHA:93626", "Autoinflammatory syndrome": "ORPHA:93665", "OBSOLETE: Adult chronic recurrent multifocal osteomyelitis": "ORPHA:93668", "OBSOLETE: Adult CRMO": "ORPHA:93668", "Hemoglobin H disease": "ORPHA:93616", "Alpha-thalassemia intermedia": "ORPHA:93616", "HbH disease": "ORPHA:93616", "Rare cause of hypertension": "ORPHA:93618", "Rare renal tumor": "ORPHA:93619", "Dent disease type 1": "ORPHA:93622", "Dent disease type 2": "ORPHA:93623", "OBSOLETE: Pediatric Castleman disease": "ORPHA:93682", "Juvenile dermatomyositis": "ORPHA:93672", "Juvenile DM": "ORPHA:93672", "OBSOLETE: Multicentric Castleman disease": "ORPHA:93686", "OBSOLETE: MCD": "ORPHA:93686", "OBSOLETE: Multicentric giant lymph node hyperplasia": "ORPHA:93686", "Unicentric Castleman disease": "ORPHA:93685", "Localized Castleman disease": "ORPHA:93685", "Rare developmental defect during embryogenesis": "ORPHA:93890", "Malformation syndrome": "ORPHA:93890", "OBSOLETE: Non-idiopathic juvenile arthritis": "ORPHA:93688", "Infantile nephronophthisis": "ORPHA:93591", "Autosomal recessive infantile NPHP": "ORPHA:93591", "Autosomal recessive infantile nephronophthisis": "ORPHA:93591", "Juvenile nephronophthisis": "ORPHA:93592", "Genetic cystic renal disease": "ORPHA:93587", "Hereditary cystic renal disease": "ORPHA:93587", "Late-onset nephronophthisis": "ORPHA:93589", "Syndrome of reduced sensitivity to thyroid hormone": "ORPHA:596426", "Primary hyperoxaluria type 1": "ORPHA:93598", "Glycolic aciduria": "ORPHA:93598", "Peroxisomal alanine-glyoxylate aminotransferase deficiency": "ORPHA:93598", "Nephropathy secondary to a storage or other metabolic disease": "ORPHA:93593", "OBSOLETE: Alpha-1-antichymotrypsin deficiency": "ORPHA:93594", "OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly": "ORPHA:93578", "OBSOLETE: Atypical HUS with B factor anomaly": "ORPHA:93578", "OBSOLETE: D- HUS with B factor anomaly": "ORPHA:93578", "OBSOLETE: Hemolytic uremic syndrome without diarrhea with B factor anomaly": "ORPHA:93578", "OBSOLETE: aHUS with B factor anomaly": "ORPHA:93578", "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis": "ORPHA:596008", "OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly": "ORPHA:93579", "OBSOLETE: Atypical HUS with H factor anomaly": "ORPHA:93579", "OBSOLETE: D- HUS with H factor anomaly": "ORPHA:93579", "OBSOLETE: Hemolytic uremic syndrome without diarrhea with H factor anomaly": "ORPHA:93579", "OBSOLETE: aHUS with H factor anomaly": "ORPHA:93579", "OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly": "ORPHA:93575", "OBSOLETE: Atypical HUS with C3 anomaly": "ORPHA:93575", "OBSOLETE: D- HUS with C3 anomaly": "ORPHA:93575", "OBSOLETE: Hemolytic uremic syndrome without diarrhea with C3 anomaly": "ORPHA:93575", "OBSOLETE: aHUS with C3 anomaly": "ORPHA:93575", "OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly": "ORPHA:93576", "OBSOLETE: Atypical HUS with MCP/CD46 anomaly": "ORPHA:93576", "OBSOLETE: D- HUS with MCP/CD46 anomaly": "ORPHA:93576", "OBSOLETE: Hemolytic uremic syndrome without diarrhea with MCP/CD46 anomaly": "ORPHA:93576", "OBSOLETE: aHUS with MCP/CD46 anomaly": "ORPHA:93576", "Congenital thrombotic thrombocytopenic purpura": "ORPHA:93583", "Congenital ADAMTS-13 deficiency": "ORPHA:93583", "Congenital TTP": "ORPHA:93583", "Familial TTP": "ORPHA:93583", "Upshaw-Schulman syndrome": "ORPHA:93583", "Immune-mediated thrombotic thrombocytopenic purpura": "ORPHA:93585", "Acquired TTP": "ORPHA:93585", "Acquired thrombotic thrombocytopenic purpura": "ORPHA:93585", "Autoimmune thrombotic thrombocytopenic purpura": "ORPHA:93585", "Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies": "ORPHA:93585", "aTTP": "ORPHA:93585", "iTTP": "ORPHA:93585", "OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly": "ORPHA:93580", "OBSOLETE: Atypical HUS with I factor anomaly": "ORPHA:93580", "OBSOLETE: D- HUS with I factor anomaly": "ORPHA:93580", "OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly": "ORPHA:93580", "OBSOLETE: Partial factor I deficiency": "ORPHA:93580", "OBSOLETE: aHUS with I factor anomaly": "ORPHA:93580", "Atypical hemolytic uremic syndrome with anti-factor H antibodies": "ORPHA:93581", "Atypical HUS with anti-factor H antibodies": "ORPHA:93581", "aHUS with anti-factor H antibodies": "ORPHA:93581", "aHUS with neutralizing autoantibodies against factor H": "ORPHA:93581", "Distal renal tubular acidosis with anemia": "ORPHA:93610", "dRTA with anemia": "ORPHA:93610", "Autosomal recessive distal renal tubular acidosis without deafness": "ORPHA:93609", "AR dRTA without deafness": "ORPHA:93609", "AR dRTA without hearing loss": "ORPHA:93609", "Autosomal recessive distal renal tubular acidosis without hearing loss": "ORPHA:93609", "Distal renal tubular acidosis type 1c": "ORPHA:93609", "dRTA type 1c": "ORPHA:93609", "Combined immunodeficiency due to RELA haploinsufficiency": "ORPHA:596759", "CID due to RELA haploinsufficiency": "ORPHA:596759", "Combined immunodeficiency due to RELA proto-oncogene, NF-kB subunit haploinsufficiency": "ORPHA:596759", "RAID": "ORPHA:596759", "RELA-associated inflammatory disease": "ORPHA:596759", "Autosomal dominant distal renal tubular acidosis": "ORPHA:93608", "AD dRTA": "ORPHA:93608", "Autosomal recessive proximal renal tubular acidosis": "ORPHA:93607", "AR pRTA": "ORPHA:93607", "Proximal renal tubular acidosis with ocular abnormalities and intellectual disability": "ORPHA:93607", "Hematological disorder with renal involvement": "ORPHA:93614", "Cystinuria type B": "ORPHA:93613", "Portosinusoidal vascular disease": "ORPHA:596937", "PSVD": "ORPHA:596937", "Cystinuria type A": "ORPHA:93612", "Incomplete septal cirrhosis": "ORPHA:596941", "Incomplete septal fibrosis": "ORPHA:596941", "Autosomal recessive distal renal tubular acidosis with deafness": "ORPHA:93611", "AR dRTA with deafness": "ORPHA:93611", "AR dRTA with hearing loss": "ORPHA:93611", "Autosomal recessive distal RTA with deafness": "ORPHA:93611", "Autosomal recessive distal renal tubular acidosis with hearing loss": "ORPHA:93611", "Distal renal tubular acidosis type 1b": "ORPHA:93611", "dRTA type 1b": "ORPHA:93611", "Xanthinuria type II": "ORPHA:93602", "XDH and AOX dual deficiency": "ORPHA:93602", "Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency": "ORPHA:93602", "Xanthinuria type I": "ORPHA:93601", "XDH deficiency": "ORPHA:93601", "XO deficiency": "ORPHA:93601", "XOR deficiency": "ORPHA:93601", "Xanthine dehydrogenase deficiency": "ORPHA:93601", "Xanthine oxidase deficiency": "ORPHA:93601", "Xanthine oxidoreductase deficiency": "ORPHA:93601", "IgG4-related systemic disease": "ORPHA:596448", "Primary hyperoxaluria type 3": "ORPHA:93600", "Primary hyperoxaluria type 2": "ORPHA:93599", "D-glycerate dehydrogenase deficiency": "ORPHA:93599", "L-glyceric aciduria": "ORPHA:93599", "Nephrogenic syndrome of inappropriate antidiuresis": "ORPHA:93606", "NSIAD": "ORPHA:93606", "VEXAS syndrome": "ORPHA:596753", "Bartter syndrome type 3": "ORPHA:93605", "Bartter syndrome type III": "ORPHA:93605", "OBSOLETE: Antenatal Bartter syndrome": "ORPHA:93604", "OBSOLETE: Bartter syndrome, furosemide type": "ORPHA:93604", "OBSOLETE: Bartter syndrome, furosemide-amiloride type": "ORPHA:93604", "OBSOLETE: Hyperprostaglandin E syndrome": "ORPHA:93604", "Rare renal tubular disease": "ORPHA:93603", "Interventricular septum aneurysm": "ORPHA:99092", "Laubry-Pezzi syndrome": "ORPHA:99094", "VSD with aortic insufficiency": "ORPHA:99094", "Ventricular septal defect with aortic insufficiency": "ORPHA:99094", "Coronary ostial stenosis or atresia": "ORPHA:99087", "COSA": "ORPHA:99087", "Congenital coronary arterial orifice stenosis or atresia": "ORPHA:99087", "Congenital stenosis or atresia of a coronary ostium": "ORPHA:99087", "OBSOLETE: Intramural coronary arterial course": "ORPHA:99088", "Abnormal number of coronary ostia": "ORPHA:99089", "Malposition of a coronary ostium": "ORPHA:99090", "Pulmonary artery hypoplasia": "ORPHA:99083", "Unilateral Pulmonary Artery Hypoplasia": "ORPHA:99083", "Peripheral pulmonary stenosis": "ORPHA:99084", "Branch pulmonary artery stenosis": "ORPHA:99084", "Pulmonary branch stenosis": "ORPHA:99084", "OBSOLETE: Coronary artery intramyocardial course": "ORPHA:99085", "OBSOLETE: Aortopulmonary coronary arterial course": "ORPHA:99086", "Cervical aortic arch": "ORPHA:99079", "Right aortic arch": "ORPHA:99081", "Dysphagia lusoria": "ORPHA:99082", "Persistent fifth aortic arch": "ORPHA:99076", "Encircling double aortic arch": "ORPHA:99075", "Neuhauser anomaly": "ORPHA:99078", "Kommerell diverticulum": "ORPHA:99077", "Congenital patent ductus arteriosus aneurysm": "ORPHA:99072", "Aorto-left ventricular tunnel": "ORPHA:99071", "Complete atrioventricular septal defect-tetralogy of Fallot": "ORPHA:99068", "CAVC-tetralogy of Fallot": "ORPHA:99068", "Complete AVSD-tetralogy of Fallot": "ORPHA:99068", "Complete atrioventricular canal defect-tetralogy of Fallot": "ORPHA:99068", "Complete atrioventricular septal defect with ventricular hypoplasia": "ORPHA:99067", "CAVC with ventricular hypoplasia": "ORPHA:99067", "Complete AVSD with ventricular hypoplasia": "ORPHA:99067", "Complete atrioventricular canal defect with ventricular hypoplasia": "ORPHA:99067", "Complete atrioventricular septal defect with ventricular imbalance": "ORPHA:99067", "Unbalanced complete atrioventricular canal": "ORPHA:99067", "Aorto-right ventricular tunnel": "ORPHA:99070", "OBSOLETE: Univentricular heart with single atrio-ventricular valve": "ORPHA:99069", "Straddling and/or overriding mitral valve": "ORPHA:99064", "Shone complex": "ORPHA:99063", "OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome": "ORPHA:99066", "OBSOLETE: CAVC-left heart obstruction syndrome": "ORPHA:99066", "Congenital total pulmonary venous return anomaly": "ORPHA:99125", "Congenital pulmonary vein atresia": "ORPHA:99126", "CPVA": "ORPHA:99126", "Congenital PVA": "ORPHA:99126", "Inferior vena cava interruption without azygos continuation": "ORPHA:99123", "IVC interruption": "ORPHA:99123", "Inferior caval vein interruption": "ORPHA:99123", "Congenital partial pulmonary venous return anomaly": "ORPHA:99124", "Azygos continuation of the inferior vena cava": "ORPHA:99121", "Azygos continuation of the IVC": "ORPHA:99121", "Azygos continuation of the inferior caval vein": "ORPHA:99121", "Inferior vena cava interruption with azygos continuation": "ORPHA:99121", "Congenital stenosis of the inferior vena cava": "ORPHA:99122", "Congenital stenosis of the IVC": "ORPHA:99122", "Congenital stenosis of the inferior caval vein": "ORPHA:99122", "Right inferior vena cava connecting to left-sided atrium": "ORPHA:99119", "Right IVC connecting to left-sided atrium": "ORPHA:99119", "Right inferior caval vein connecting to left-sided atrium": "ORPHA:99119", "Persistent eustachian valve": "ORPHA:99120", "Coronary sinus stenosis": "ORPHA:99117", "Coronary sinus atresia": "ORPHA:99118", "Subaortic course of innominate vein": "ORPHA:99113", "Subaortic course of brachiocephalic vein": "ORPHA:99113", "Agenesis of the superior vena cava": "ORPHA:99114", "Absence of the SVC": "ORPHA:99114", "Absence of the superior caval vein": "ORPHA:99114", "Absence of the superior vena cava": "ORPHA:99114", "Agenesis of the SVC": "ORPHA:99114", "Agenesis of the superior caval vein": "ORPHA:99114", "Persistent left superior vena cava connecting to the roof of left-sided atrium": "ORPHA:99111", "Persistent left SVC connecting to left-sided atrium": "ORPHA:99111", "Persistent left SVC connecting to the roof of left-sided atrium": "ORPHA:99111", "Persistent left superior vena cava connecting to left-sided atrium": "ORPHA:99111", "Absence of innominate vein": "ORPHA:99112", "Absence of brachiocephalic vein": "ORPHA:99112", "Right superior vena cava connecting to left-sided atrium": "ORPHA:99110", "Right SVC connecting to left-sided atrium": "ORPHA:99110", "Right superior caval vein connecting to left-sided atrium": "ORPHA:99110", "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium": "ORPHA:99109", "Persistent left SVC connecting through coronary sinus to left-sided atrium": "ORPHA:99109", "NON RARE IN EUROPE: Patent foramen ovale": "ORPHA:99108", "Atrial septal aneurysm": "ORPHA:99107", "Atrial septal defect, ostium primum type": "ORPHA:99106", "ASD, ostium primum type": "ORPHA:99106", "Atrial septal defect, sinus venosus type": "ORPHA:99105", "ASD, sinus venosus type": "ORPHA:99105", "Atrial septal defect, coronary sinus type": "ORPHA:99104", "ASD, coronary sinus type": "ORPHA:99104", "Unroofed coronary sinus": "ORPHA:99104", "Atrial septal defect, ostium secundum type": "ORPHA:99103", "ASD, ostium secundum type": "ORPHA:99103", "Ectasia of the left atrial appendage": "ORPHA:99102", "Dilatation of the left atrial appendage": "ORPHA:99102", "Dilatation of the left auricle": "ORPHA:99102", "Ectasia of the left auricle": "ORPHA:99102", "Ectasia of the right atrial appendage": "ORPHA:99101", "Dilatation of the right atrial appendage": "ORPHA:99101", "Dilatation of the right atrial auricle": "ORPHA:99101", "Ectasia of the right atrial auricle": "ORPHA:99101", "Juxtaposition of the atrial appendages": "ORPHA:99100", "Juxtaposition of the atrial auricles": "ORPHA:99100", "Cor triatriatum sinister": "ORPHA:99099", "Cor triatriatum sinistrum": "ORPHA:99099", "Divided left atrium": "ORPHA:99099", "Cor triatriatum dexter": "ORPHA:99098", "Cor triatriatum dextrum": "ORPHA:99098", "Divided right atrium": "ORPHA:99098", "OBSOLETE: Single ventricular septal defect": "ORPHA:99097", "OBSOLETE: Multiple ventricular septal defects": "ORPHA:99096", "Congenital Gerbode defect": "ORPHA:99095", "Left ventricular-to-right atrial communication": "ORPHA:99095", "NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging": "ORPHA:99151", "OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome": "ORPHA:99143", "OBSOLETE: Platelet function disease associated with renal insufficiency": "ORPHA:99146", "Acquired von Willebrand syndrome": "ORPHA:99147", "Acquired von Willebrand disease": "ORPHA:99147", "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies": "ORPHA:592850", "NMOSD with anti-AQP4 antibodies": "ORPHA:592850", "Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies": "ORPHA:592850", "Neuromyelitis optica spectrum disorder with anti-MOG antibodies": "ORPHA:592856", "NMOSD with anti-MOG antibodies": "ORPHA:592856", "Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies": "ORPHA:592856", "6-phosphogluconate dehydrogenase deficiency": "ORPHA:99135", "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies": "ORPHA:592869", "NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies": "ORPHA:592869", "Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies": "ORPHA:592869", "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction": "ORPHA:99138", "Acute transverse myelitis with anti-MOG antibodies": "ORPHA:592873", "Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies": "ORPHA:592873", "OBSOLETE: Isolated optic neuritis without anti-MOG antibodies": "ORPHA:592885", "OBSOLETE: Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies": "ORPHA:592885", "OBSOLETE: Isolated optic neuritis with anti-MOG antibodies": "ORPHA:592888", "OBSOLETE: Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies": "ORPHA:592888", "Unstable hemoglobin disease": "ORPHA:99139", "Acute disseminated encephalomyelitis with anti-MOG antibodies": "ORPHA:592894", "ADEM with anti-MOG antibodies": "ORPHA:592894", "Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies": "ORPHA:592894", "Microcephaly-cutis verticis gyrata-lymphedema syndrome": "ORPHA:99142", "Acute disseminated encephalomyelitis without anti-MOG antibodies": "ORPHA:592900", "Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies": "ORPHA:592900", "Lymphedema-posterior choanal atresia syndrome": "ORPHA:99141", "Congenital partial agenesis of pericardium": "ORPHA:99130", "Congenital complete agenesis of pericardium": "ORPHA:99129", "Pleuro-pericardial cyst": "ORPHA:99131", "OBSOLETE: Intermediate stomatocytosis syndrome": "ORPHA:99134", "48,XYYY syndrome": "ORPHA:99329", "49,XYYYY syndrome": "ORPHA:99330", "Mosaic monosomy X syndrome": "ORPHA:99228", "Paternal uniparental disomy of chromosome 13 syndrome": "ORPHA:99324", "UPD(13)pat": "ORPHA:99324", "Familial medullary thyroid carcinoma": "ORPHA:99361", "Familial MTC": "ORPHA:99361", "Isolated distichiasis": "ORPHA:99177", "Congenital eyelid retraction": "ORPHA:99176", "Monosomy X syndrome": "ORPHA:99226", "Kandori fleck retina": "ORPHA:99179", "Tarsal kink syndrome": "ORPHA:99170", "Epiblepharon": "ORPHA:99169", "Euryblepharon": "ORPHA:99172", "Isolated congenital ectropion": "ORPHA:99171", "NON RARE IN EUROPE: Familial combined hyperlipoproteinemia": "ORPHA:99166", "Primary dystonia, DYT2 type": "ORPHA:99657", "DYT2": "ORPHA:99657", "OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder": "ORPHA:99651", "OBSOLETE: Fibrocalculous pancreatopathy": "ORPHA:99654", "OBSOLETE: FCPD": "ORPHA:99654", "OBSOLETE: Fibrocalculous pancreatic diabetes": "ORPHA:99654", "OBSOLETE: Tropical pancreatic diabetes": "ORPHA:99654", "OBSOLETE: Trochlear nerve palsy": "ORPHA:99664", "OBSOLETE: Vestibular torticollis": "ORPHA:99663", "OBSOLETE: Atlantoaxial subluxation": "ORPHA:99666", "NON RARE IN EUROPE: Ventral hernia": "ORPHA:99665", "OBSOLETE: Posterior fossa tumors": "ORPHA:99662", "Complete androgen insensitivity syndrome": "ORPHA:99429", "CAIS": "ORPHA:99429", "Complete androgen resistance syndrome": "ORPHA:99429", "Spondyloepimetaphyseal dysplasia, Handigodu type": "ORPHA:99642", "Pituitary adenoma": "ORPHA:99408", "Turner syndrome due to structural X chromosome anomalies": "ORPHA:99413", "Cheirospondyloenchondromatosis": "ORPHA:99647", "Enchondromatosis Spranger, type VI": "ORPHA:99647", "Generalized enchondromatosis with platyspondyly": "ORPHA:99647", "OBSOLETE: Non-progressive congenital heart block": "ORPHA:99648", "OBSOLETE: Generalized epilepsy and praxis-induced seizures": "ORPHA:99649", "OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy": "ORPHA:99650", "Dappled diaphyseal dysplasia": "ORPHA:99645", "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria": "ORPHA:99646", "MC-HGA": "ORPHA:99646", "Dermotrichic syndrome": "ORPHA:99688", "Menke-Hennekam syndrome": "ORPHA:592574", "GNAO1-related developmental delay-seizures-movement disorder spectrum": "ORPHA:592564", "GNAO1-related neurodevelopmental disorder": "ORPHA:592564", "GNAO1-related spectrum": "ORPHA:592564", "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome": "ORPHA:592570", "Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome": "ORPHA:99694", "Fried's tooth and nail syndrome": "ORPHA:99672", "MASS syndrome": "ORPHA:99715", "Mitral valve-aorta-skeleton-skin syndrome": "ORPHA:99715", "Leber plus disease": "ORPHA:99718", "LHON plus disease": "ORPHA:99718", "Isolated melanotic schwannoma": "ORPHA:590539", "Isolated melanocytic schwannoma": "ORPHA:590539", "OBSOLETE: Sporadic achalasia": "ORPHA:99722", "OBSOLETE: Familial esophageal achalasia": "ORPHA:99723", "Pituitary gigantism": "ORPHA:99725", "Hypophyseal gigantism": "ORPHA:99725", "Infantile and juvenile forms of acromegaly": "ORPHA:99725", "Congenital-onset Steinert myotonic dystrophy": "ORPHA:589821", "Congenital-onset Steinert disease": "ORPHA:589821", "Congenital-onset myotonic dystrophy type 1": "ORPHA:589821", "Inherited gynecological cancer-predisposing syndrome": "ORPHA:589746", "Juvenile-onset Steinert myotonic dystrophy": "ORPHA:589827", "Juvenile-onset Steinert disease": "ORPHA:589827", "Juvenile-onset myotonic dystrophy type 1": "ORPHA:589827", "Mesial temporal lobe epilepsy with hippocampal sclerosis": "ORPHA:99701", "HS-MTLE": "ORPHA:99701", "Hippocampal sclerosis-related mesial temporal lobe epilepsy": "ORPHA:99701", "MTLE-HS": "ORPHA:99701", "Childhood-onset Steinert myotonic dystrophy": "ORPHA:589824", "Childhood-onset Steinert disease": "ORPHA:589824", "Childhood-onset myotonic dystrophy type 1": "ORPHA:589824", "Late-onset Steinert myotonic dystrophy": "ORPHA:589833", "Late-onset Steinert disease": "ORPHA:589833", "Late-onset myotonic dystrophy type 1": "ORPHA:589833", "Adult-onset Steinert myotonic dystrophy": "ORPHA:589830", "Adult-onset Steinert disease": "ORPHA:589830", "Adult-onset myotonic dystrophy type 1": "ORPHA:589830", "Early-onset obesity-hyperphagia-severe developmental delay syndrome": "ORPHA:99704", "OBHD": "ORPHA:99704", "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome": "ORPHA:589905", "Chung-Jansen syndrome": "ORPHA:589905", "DIDOD": "ORPHA:589905", "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome": "ORPHA:589856", "KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome": "ORPHA:589856", "OBSOLETE: Progeria-associated arthropathy": "ORPHA:99706", "Punctate acrokeratoderma freckle-like pigmentation": "ORPHA:99710", "Atypical progressive supranuclear palsy syndrome": "ORPHA:99750", "Atypical PSP syndrome": "ORPHA:99750", "Kostmann syndrome": "ORPHA:99749", "Infantile agranulocytosis": "ORPHA:99749", "Severe congenital neutropenia type 3": "ORPHA:99749", "Pontiac fever": "ORPHA:99748", "Non-pneumonic Legionnaires' disease": "ORPHA:99748", "Embryonal rhabdomyosarcoma": "ORPHA:99757", "Alveolar rhabdomyosarcoma": "ORPHA:99756", "Myotonia fluctuans": "ORPHA:99734", "Exercise-induced delayed-onset myotonia": "ORPHA:99734", "Fluctuating myotonia": "ORPHA:99734", "Isolated sulfite oxidase deficiency": "ORPHA:99731", "ISOD": "ORPHA:99731", "Sulfocysteinuria": "ORPHA:99731", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency": "ORPHA:99732", "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase": "ORPHA:99732", "MOCOD": "ORPHA:99732", "Myotonia permanens": "ORPHA:99735", "Acetazolamide-responsive myotonia": "ORPHA:99736", "ACZ-responsive congenital myotonia": "ORPHA:99736", "ACZ-responsive myotonia": "ORPHA:99736", "Acetazolamide-responsive congenital myotonia": "ORPHA:99736", "Myotonia-painful contractions syndrome": "ORPHA:99736", "Painful congenital myotonia": "ORPHA:99736", "Painful myotonia": "ORPHA:99736", "King-Denborough syndrome": "ORPHA:99741", "Koussef-Nichols syndrome": "ORPHA:99741", "Amish lethal microcephaly": "ORPHA:99742", "Rare familial disorder with hypertrophic cardiomyopathy": "ORPHA:99739", "Rare familial disorder with hypertrophic obstructive cardiomyopathy": "ORPHA:99739", "Rare familial disorder with hypertrophic subaortic stenosis": "ORPHA:99739", "Typhoid": "ORPHA:99745", "Typhoid fever": "ORPHA:99745", "Typhoidal salmonellosis": "ORPHA:99745", "Familial focal epilepsy with variable foci": "ORPHA:98820", "FFEVF": "ORPHA:98820", "Familial partial epilepsy with variable foci": "ORPHA:98820", "Familial temporal lobe epilepsy": "ORPHA:98819", "Landau-Kleffner syndrome": "ORPHA:98818", "Acquired epileptic aphasia": "ORPHA:98818", "LKS": "ORPHA:98818", "Childhood occipital visual epilepsy": "ORPHA:98816", "COVE": "ORPHA:98816", "Idiopathic chilldhood occipital epilepsy-Gastaut type": "ORPHA:98816", "Late-onset benign childhood occipital epilepsy": "ORPHA:98816", "Self-limited epilepsy with autonomic seizures": "ORPHA:98815", "Benign childhood occipital epilepsy, Panayiotopoulos type": "ORPHA:98815", "Early-onset benign childhood occipital epilepsy": "ORPHA:98815", "Panayiotopoulos syndrome": "ORPHA:98815", "SeLEAS": "ORPHA:98815", "Hypohidrotic ectodermal dysplasia with immunodeficiency": "ORPHA:98813", "Anhidrotic ectodermal dysplasia with immunodeficiency": "ORPHA:98813", "EDA-ID": "ORPHA:98813", "HED-ID": "ORPHA:98813", "Paroxysmal hypnogenic dyskinesia": "ORPHA:98812", "Nocturnal paroxysmal dystonia": "ORPHA:98812", "Paroxysmal hypnagogic dyskinesia": "ORPHA:98812", "Paroxysmal hypnagogic dystonia": "ORPHA:98812", "Paroxysmal nocturnal dyskinesia": "ORPHA:98812", "Paroxysmal exertion-induced dyskinesia": "ORPHA:98811", "DYT18": "ORPHA:98811", "Dystonia 18": "ORPHA:98811", "PED": "ORPHA:98811", "Paroxysmal non-kinesigenic dyskinesia": "ORPHA:98810", "Paroxystic non-kinesigenic choreoathetosis": "ORPHA:98810", "Paroxysmal kinesigenic dyskinesia": "ORPHA:98809", "Familial PKD": "ORPHA:98809", "Familial paroxysmal kinesigenic dyskinesia": "ORPHA:98809", "Paroxysmal kinesigenic choreathetosis": "ORPHA:98809", "Autosomal dominant dopa-responsive dystonia": "ORPHA:98808", "Autosomal dominant Segawa syndrome": "ORPHA:98808", "DYT5a": "ORPHA:98808", "GTPCH1-deficient DRD": "ORPHA:98808", "GTPCH1-deficient dopa-responsive dystonia": "ORPHA:98808", "HPD with marked diurnal fluctuation": "ORPHA:98808", "Hereditary progressive dystonia with marked diurnal fluctuation": "ORPHA:98808", "Primary dystonia, DYT13 type": "ORPHA:98807", "DYT13": "ORPHA:98807", "Primary dystonia with mixed phenotype": "ORPHA:98807", "Primary torsion dystonia with predominant craniocervical or upper limb onset": "ORPHA:98807", "Acute biphenotypic leukemia": "ORPHA:98837", "Primary mediastinal large B-cell lymphoma": "ORPHA:98838", "Large cell lymphoma of the mediastinum": "ORPHA:98838", "Med-DLBCL": "ORPHA:98838", "Mediastinal diffuse large-cell lymphoma with sclerosis": "ORPHA:98838", "Primary mediastinal clear cell lymphoma of B-cell type": "ORPHA:98838", "Acute undifferentiated leukemia": "ORPHA:98835", "Acute myeloid leukemia, minimal differentiation, FAB M0": "ORPHA:98835", "Bilineal acute leukemia": "ORPHA:98836", "Acute myeloblastic leukemia without maturation": "ORPHA:98833", "AML M1": "ORPHA:98833", "Acute myeloblastic leukemia M1": "ORPHA:98833", "Acute myeloblastic leukemia with maturation": "ORPHA:98834", "AML M2": "ORPHA:98834", "Acute myeloblastic leukemia M2": "ORPHA:98834", "Acute myeloid leukemia with 11q23 abnormalities": "ORPHA:98831", "AML with 11q23 abnormalities": "ORPHA:98831", "Acute myeloid leukemia with minimal differentiation": "ORPHA:98832", "AML M0": "ORPHA:98832", "Minimally differentiated acute myeloblastic leukemia": "ORPHA:98832", "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)": "ORPHA:98829", "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)": "ORPHA:98829", "Unclassified myelodysplastic syndrome": "ORPHA:98827", "Unclassified myelodysplastic/myeloproliferative disease": "ORPHA:98825", "Unclassified mixed myelodysplastic/myeloproliferatic syndrome": "ORPHA:98825", "Myelodysplastic neoplasm with low blasts": "ORPHA:98826", "MDS-LB": "ORPHA:98826", "Refractory anemia": "ORPHA:98826", "Chronic myelomonocytic leukemia": "ORPHA:98823", "CMML": "ORPHA:98823", "Atypical chronic myeloid leukemia": "ORPHA:98824", "Subacute myeloid leukemia": "ORPHA:98824", "Desquamative interstitial pneumonia": "ORPHA:98852", "Mast cell leukemia": "ORPHA:98851", "Autosomal dominant Emery-Dreifuss muscular dystrophy": "ORPHA:98853", "EDMD2": "ORPHA:98853", "Indolent systemic mastocytosis": "ORPHA:98848", "Aggressive systemic mastocytosis": "ORPHA:98850", "Systemic mastocytosis with associated hematologic neoplasm": "ORPHA:98849", "SM-AHN": "ORPHA:98849", "SM-AHNMD": "ORPHA:98849", "Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease": "ORPHA:98849", "Classic Hodgkin lymphoma, mixed cellularity type": "ORPHA:98844", "Classic Hodgkin lymphoma, nodular sclerosis type": "ORPHA:98843", "Classic Hodgkin lymphoma, lymphocyte-depleted type": "ORPHA:98846", "Classic Hodgkin lymphoma, lymphocyte-rich type": "ORPHA:98845", "Intravascular large B-cell lymphoma": "ORPHA:98839", "Angioendotheliomatosis proliferans systemisata": "ORPHA:98839", "Angiotropic large cell lymphoma": "ORPHA:98839", "Intravascular lymphomatosis": "ORPHA:98839", "Malignant angioendotheliomatosis": "ORPHA:98839", "Tappeiner-Pfleger disease": "ORPHA:98839", "Lymphomatoid papulosis": "ORPHA:98842", "LyP": "ORPHA:98842", "Anaplastic large cell lymphoma": "ORPHA:98841", "ALCL": "ORPHA:98841", "CD30 positive anaplastic large cell lymphoma": "ORPHA:98841", "Ki-1 positive anaplastic large cell lymphoma": "ORPHA:98841", "Primary systemic ALCL": "ORPHA:98841", "sACL": "ORPHA:98841", "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies": "ORPHA:589608", "RHOA-related mosaic ectodermal dysplasia": "ORPHA:589608", "Hereditary pyropoikilocytosis": "ORPHA:98867", "Mixed phenotype acute leukemia with t(v;11q23.3)": "ORPHA:589595", "MPAL with t(v;11q23.3); KMT2A rearranged": "ORPHA:589595", "MPAL with t(v;11q23.3); MLL rearranged": "ORPHA:589595", "Southeast Asian ovalocytosis": "ORPHA:98868", "Hereditary ovalocytosis": "ORPHA:98868", "Melanesian elliptocytosis": "ORPHA:98868", "Melanesian ovalocytosis": "ORPHA:98868", "SAO": "ORPHA:98868", "Stomatocytic elliptocytosis": "ORPHA:98868", "Congenital dyserythropoietic anemia type I": "ORPHA:98869", "CDA I": "ORPHA:98869", "CDA type 1": "ORPHA:98869", "CDA type I": "ORPHA:98869", "Congenital dyserythropoietic anemia type 1": "ORPHA:98869", "Dystonia 28": "ORPHA:589618", "DYT28": "ORPHA:589618", "KMT2B-related dystonia": "ORPHA:589618", "Congenital dyserythropoietic anemia type III": "ORPHA:98870", "CDA III": "ORPHA:98870", "CDA type 3": "ORPHA:98870", "CDA type III": "ORPHA:98870", "Congenital dyserythropoietic anemia type 3": "ORPHA:98870", "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)": "ORPHA:589534", "MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1": "ORPHA:589534", "X-linked Emery-Dreifuss muscular dystrophy": "ORPHA:98863", "Spinocerebellar ataxia type 45": "ORPHA:589527", "SCA45": "ORPHA:589527", "Common hereditary elliptocytosis": "ORPHA:98864", "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder": "ORPHA:589547", "GRIN2B-Related Neurodevelopmental Disorder": "ORPHA:589547", "Homozygous hereditary elliptocytosis": "ORPHA:98865", "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement": "ORPHA:589542", "Myeloid/lymphoid neoplasms with PCM1-JAK2": "ORPHA:589542", "OBSOLETE: Spherocytic elliptocytosis": "ORPHA:98866", "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome": "ORPHA:589442", "Liberfarb syndrome": "ORPHA:589442", "Spondylometaphyseal dysplasia-corneal dystrophy syndrome": "ORPHA:589435", "SMD-corneal dystrophy syndrome": "ORPHA:589435", "Spinocerebellar ataxia type 46": "ORPHA:589522", "SCA46": "ORPHA:589522", "Primary ciliary dyskinesia, Kartagener type": "ORPHA:98861", "Dextrocardia-bronchiectasis-sinusitis syndrome": "ORPHA:98861", "Immotile cilia syndrome, Kartagener type": "ORPHA:98861", "Kartagener syndrome": "ORPHA:98861", "Siewert syndrome": "ORPHA:98861", "PUM1-associated developmental disability-ataxia-seizure syndrome": "ORPHA:589515", "PADDAS syndrome": "ORPHA:589515", "Autosomal recessive Emery-Dreifuss muscular dystrophy": "ORPHA:98855", "EDMD3": "ORPHA:98855", "Charcot-Marie-Tooth disease type 2B1": "ORPHA:98856", "AR-CMT2B1": "ORPHA:98856", "Autosomal recessive Charcot-Marie-Tooth disease type 2B1": "ORPHA:98856", "Autosomal recessive axonal CMT4C1": "ORPHA:98856", "Familial dysfibrinogenemia": "ORPHA:98881", "Familial afibrinogenemia": "ORPHA:98880", "Hemophilia B": "ORPHA:98879", "Christmas disease": "ORPHA:98879", "Congenital F9 deficiency": "ORPHA:98879", "Congenital factor IX deficiency": "ORPHA:98879", "Bleeding diathesis due to integrin alpha2-beta1 deficiency": "ORPHA:98886", "Bleeding diathesis due to glycoprotein VI deficiency": "ORPHA:98885", "Congenital dyserythropoietic anemia type II": "ORPHA:98873", "CDA II": "ORPHA:98873", "CDA type 2": "ORPHA:98873", "CDA type II": "ORPHA:98873", "Congenital dyserythropoietic anemia type 2": "ORPHA:98873", "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)": "ORPHA:98873", "SEC23B-CDG": "ORPHA:98873", "Primary acquired pure red cell aplasia": "ORPHA:98872", "Primary acquired PRCA": "ORPHA:98872", "Transient erythroblastopenia of childhood": "ORPHA:98871", "Transient acquired pure red cell aplasia": "ORPHA:98871", "Hemophilia A": "ORPHA:98878", "Congenital F8 deficiency": "ORPHA:98878", "Congenital FVIII deficiency": "ORPHA:98878", "Congenital Factor VIII deficiency": "ORPHA:98878", "Oculopharyngodistal myopathy": "ORPHA:98897", "OPDM": "ORPHA:98897", "Oculopharyngeal distal myopathy": "ORPHA:98897", "Becker muscular dystrophy": "ORPHA:98895", "Becker dystrophinopathy": "ORPHA:98895", "Duchenne muscular dystrophy": "ORPHA:98896", "DMD": "ORPHA:98896", "Severe dystrophinopathy, Duchenne type": "ORPHA:98896", "Amish nemaline myopathy": "ORPHA:98902", "Bilateral perisylvian polymicrogyria": "ORPHA:98889", "Early-onset X-linked optic atrophy": "ORPHA:98890", "Non-Leber type optic atrophy with early-onset": "ORPHA:98890", "OPA2": "ORPHA:98890", "Optic atrophy type 2": "ORPHA:98890", "X-linked complex spastic paraplegia": "ORPHA:98888", "Complex X-linked HSP": "ORPHA:98888", "Complex X-linked SPG": "ORPHA:98888", "Complicated X-linked HSP": "ORPHA:98888", "Complicated X-linked SPG": "ORPHA:98888", "X-linked complicated spastic paraplegia": "ORPHA:98888", "Congenital muscular dystrophy type 1B": "ORPHA:98893", "CMD1B": "ORPHA:98893", "MDC1B": "ORPHA:98893", "Congenital muscular dystrophy type 1D": "ORPHA:98894", "MDC1D": "ORPHA:98894", "Periventricular nodular heterotopia": "ORPHA:98892", "PVNH": "ORPHA:98892", "Late-onset distal myopathy, Markesbery-Griggs type": "ORPHA:98912", "ZASP-related myofibrillar myopathy": "ORPHA:98912", "Distal myotilinopathy": "ORPHA:98911", "Presynaptic congenital myasthenic syndromes": "ORPHA:98914", "Postsynaptic congenital myasthenic syndromes": "ORPHA:98913", "Acute inflammatory demyelinating polyradiculoneuropathy": "ORPHA:98916", "AIDP": "ORPHA:98916", "Acute idiopathic demyelinating polyneuropathy": "ORPHA:98916", "Acute inflammatory polyneuropathy": "ORPHA:98916", "GBS, acute inflammatory demyelinating polyradiculoneuropathic form": "ORPHA:98916", "Guillain-Barr\u00e9 syndrome, acute inflammatory demyelinating polyradiculoneuropathic form": "ORPHA:98916", "Synaptic congenital myasthenic syndromes": "ORPHA:98915", "Acute motor axonal neuropathy": "ORPHA:98918", "AMAN": "ORPHA:98918", "Acute pure motor GBS": "ORPHA:98918", "Acute pure motor Guillain-Barr\u00e9 syndrome": "ORPHA:98918", "Acute motor and sensory axonal neuropathy": "ORPHA:98917", "AMSAN": "ORPHA:98917", "Acute motor-sensory axonal GBS": "ORPHA:98917", "Acute motor-sensory axonal Guillain-Barr\u00e9 syndrome": "ORPHA:98917", "Congenital myopathy with excess of thin filaments": "ORPHA:98904", "Actin myopathy": "ORPHA:98904", "Congenital multicore myopathy with external ophthalmoplegia": "ORPHA:98905", "Neutral lipid storage disease with myopathy": "ORPHA:98908", "Adipose triglyceride lipase deficiency": "ORPHA:98908", "NLSDM": "ORPHA:98908", "Neutral lipid storage disease type M": "ORPHA:98908", "Neutral lipid storage disease with myopathy without ichthyosis": "ORPHA:98908", "Neutral lipid storage disease with ichthyosis": "ORPHA:98907", "Chanarin-Dorfman syndrome": "ORPHA:98907", "DCS": "ORPHA:98907", "Dorfman-Chanarin syndrome": "ORPHA:98907", "NLSDI": "ORPHA:98907", "Alpha-crystallinopathy": "ORPHA:98910", "CRYAB-related myofobrillar myopathy": "ORPHA:98910", "Desminopathy": "ORPHA:98909", "Desmin-related myofibrillar myopathy": "ORPHA:98909", "OBSOLETE: Shy-Drager syndrome": "ORPHA:98932", "OBSOLETE: MSA-urinary dysfunction syndrome": "ORPHA:98932", "OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome": "ORPHA:98932", "Multiple system atrophy, parkinsonian type": "ORPHA:98933", "MSA, parkinsonian type": "ORPHA:98933", "MSA-p": "ORPHA:98933", "Huntington disease-like 2": "ORPHA:98934", "HDL2": "ORPHA:98934", "Miller Fisher syndrome": "ORPHA:98919", "Cranial variant of GBS": "ORPHA:98919", "Cranial variant of Guillain-Barr\u00e9 syndrome": "ORPHA:98919", "Fisher syndrome": "ORPHA:98919", "Spinal muscular atrophy with respiratory distress type 1": "ORPHA:98920", "Autosomal recessive distal spinal muscular atrophy type 1": "ORPHA:98920", "Autosomal recessive spinal muscular atrophy with respiratory distress": "ORPHA:98920", "Diaphragmatic spinal muscular atrophy": "ORPHA:98920", "Distal hereditary motor neuropathy type 6": "ORPHA:98920", "Distal-HMN type 6": "ORPHA:98920", "SIANRF": "ORPHA:98920", "SMARD1": "ORPHA:98920", "Severe infantile axonal neuropathy with respiratory failure type 1": "ORPHA:98920", "dHMN6": "ORPHA:98920", "dSMA1": "ORPHA:98920", "Blake pouch cyst": "ORPHA:98922", "OBSOLETE: Von Hippel anomaly": "ORPHA:98941", "Coloboma of choroid and retina": "ORPHA:98942", "Colobomatous microphthalmia": "ORPHA:98938", "Microphthalmia with colobomatous cyst": "ORPHA:98938", "Microphthalmia-anophthalmia-coloboma syndrome": "ORPHA:98938", "Complete cryptophthalmia": "ORPHA:98949", "Partial cryptophthalmia": "ORPHA:98950", "Coloboma of optic disc": "ORPHA:98947", "Coloboma of optic papilla": "ORPHA:98947", "Congenital symblepharon": "ORPHA:98948", "Coloboma of macula": "ORPHA:98945", "Coloboma of eyelid": "ORPHA:98946", "Coloboma of eye lens": "ORPHA:98943", "Coloboma of iris": "ORPHA:98944", "Climatic droplet keratopathy": "ORPHA:98958", "Honey-droplet corneal dystrophy": "ORPHA:98958", "Gelatinous drop-like corneal dystrophy": "ORPHA:98957", "GDCD": "ORPHA:98957", "Primary familial amyloidosis of the cornea": "ORPHA:98957", "Subepithelial amyloidosis of the cornea": "ORPHA:98957", "Epithelial basement membrane dystrophy": "ORPHA:98956", "Anterior basement membrane dystrophy": "ORPHA:98956", "Cogan microcystic epithelial dystrophy": "ORPHA:98956", "EBMD": "ORPHA:98956", "Map-dot-fingerprint dystrophy": "ORPHA:98956", "Lisch epithelial corneal dystrophy": "ORPHA:98955", "Band-shaped and whorled microcystic dystrophy of the corneal epithelium": "ORPHA:98955", "LECD": "ORPHA:98955", "Meesmann corneal dystrophy": "ORPHA:98954", "Juvenile hereditary epithelial dystrophy of Meesmann": "ORPHA:98954", "MECD": "ORPHA:98954", "Inverse Marcus-Gunn phenomenon": "ORPHA:98951", "Lattice corneal dystrophy type I": "ORPHA:98964", "Biber-Haab-Dimmer dystrophy": "ORPHA:98964", "Classic lattice corneal dystrophy": "ORPHA:98964", "LCD1": "ORPHA:98964", "LCDI": "ORPHA:98964", "Lattice corneal dystrophy type 1": "ORPHA:98964", "Granular corneal dystrophy type II": "ORPHA:98963", "Avellino corneal dystrophy": "ORPHA:98963", "GCD2": "ORPHA:98963", "GCDII": "ORPHA:98963", "Granular corneal dystrophy type 2": "ORPHA:98963", "Granular-lattice corneal dystrophy": "ORPHA:98963", "Granular corneal dystrophy type I": "ORPHA:98962", "Classic GCD": "ORPHA:98962", "Classic granular corneal dystrophy": "ORPHA:98962", "Corneal dystrophy Groenouw type I": "ORPHA:98962", "GCD1": "ORPHA:98962", "GCDI": "ORPHA:98962", "Granular corneal dystrophy type 1": "ORPHA:98962", "Reis-B\u00fccklers corneal dystrophy": "ORPHA:98961", "Anterior limiting membrane dystrophy type 1": "ORPHA:98961", "Anterior limiting membrane dystrophy type I": "ORPHA:98961", "Atypical granular corneal dystrophy": "ORPHA:98961", "Corneal dystrophy of Bowman layer type 1": "ORPHA:98961", "Corneal dystrophy of Bowman layer type I": "ORPHA:98961", "Geographic corneal dystrophy": "ORPHA:98961", "Granular corneal dystrophy type 3": "ORPHA:98961", "Granular corneal dystrophy type III": "ORPHA:98961", "RBCD": "ORPHA:98961", "Superficial granular corneal dystrophy": "ORPHA:98961", "Thiel-Behnke corneal dystrophy": "ORPHA:98960", "Anterior limiting membrane dystrophy type 2": "ORPHA:98960", "Anterior limiting membrane dystrophy type II": "ORPHA:98960", "Corneal dystrophy of Bowman layer type 2": "ORPHA:98960", "Corneal dystrophy of Bowman layer type II": "ORPHA:98960", "Curly fiber corneal dystrophy": "ORPHA:98960", "Honeycomb corneal dystrophy": "ORPHA:98960", "TBCD": "ORPHA:98960", "Waardenburg-Jonker corneal dystrophy": "ORPHA:98960", "Subepithelial mucinous corneal dystrophy": "ORPHA:98959", "SMCD": "ORPHA:98959", "Posterior amorphous corneal dystrophy": "ORPHA:98971", "PACD": "ORPHA:98971", "Posterior amorphous stromal dystrophy": "ORPHA:98971", "Central cloudy dystrophy of Fran\u00e7ois": "ORPHA:98972", "CCDF": "ORPHA:98972", "Central cloudy corneal dystrophy of Fran\u00e7ois": "ORPHA:98972", "Posterior polymorphous corneal dystrophy": "ORPHA:98973", "PPCD": "ORPHA:98973", "Posterior polymorphous dystrophy": "ORPHA:98973", "Schlichting dystrophy": "ORPHA:98973", "Fuchs endothelial corneal dystrophy": "ORPHA:98974", "Endoepithelial corneal dystrophy": "ORPHA:98974", "FECD": "ORPHA:98974", "Late hereditary endothelial dystrophy": "ORPHA:98974", "Schnyder corneal dystrophy": "ORPHA:98967", "Crystalline stromal dystrophy": "ORPHA:98967", "Hereditary crystalline stromal dystrophy of Schnyder": "ORPHA:98967", "SCCD": "ORPHA:98967", "SCD": "ORPHA:98967", "Schnyder crystalline corneal dystrophy": "ORPHA:98967", "Schnyder crystalline dystrophy sine crystals": "ORPHA:98967", "Central discoid corneal dystrophy": "ORPHA:98968", "Macular corneal dystrophy": "ORPHA:98969", "Corneal dystrophy Groenouw type II": "ORPHA:98969", "Fehr corneal dystrophy": "ORPHA:98969", "Fleck corneal dystrophy": "ORPHA:98970", "FCD": "ORPHA:98970", "Fran\u00e7ois-Neetens speckled corneal dystrophy": "ORPHA:98970", "Chandler syndrome": "ORPHA:98979", "Cogan-Reese syndrome": "ORPHA:98980", "Essential iris atrophy": "ORPHA:98981", "Congenital hereditary endothelial dystrophy type I": "ORPHA:98975", "Autosomal dominant CHED": "ORPHA:98975", "Autosomal dominant congenital hereditary endothelial dystrophy": "ORPHA:98975", "CHED1": "ORPHA:98975", "CHEDI": "ORPHA:98975", "Congenital hereditary endothelial dystrophy type 1": "ORPHA:98975", "Congenital glaucoma": "ORPHA:98976", "Buphthalmia": "ORPHA:98976", "Buphthalmos": "ORPHA:98976", "Buphthalmus": "ORPHA:98976", "Primary congenital glaucoma": "ORPHA:98976", "Juvenile glaucoma": "ORPHA:98977", "Axenfeld anomaly": "ORPHA:98978", "Early-onset anterior polar cataract": "ORPHA:98988", "Early-onset anterior subcapsular cataract": "ORPHA:98988", "OBSOLETE: Cataract, Hutterite type": "ORPHA:98987", "Coralliform cataract": "ORPHA:98990", "Cerulean cataract": "ORPHA:98989", "Blue-dot cataract": "ORPHA:98989", "Pulverulent cataract": "ORPHA:98984", "Coppock-like cataract": "ORPHA:98984", "Dusty cataract": "ORPHA:98984", "OBSOLETE: Congenital cataract, Volkmann type": "ORPHA:98983", "OBSOLETE: Coppock-like cataract": "ORPHA:98986", "Early-onset sutural cataract": "ORPHA:98985", "Early-onset cataract with Y-shaped suture opacities": "ORPHA:98985", "Early-onset zonular cataract": "ORPHA:98995", "Early-onset partial cataract": "ORPHA:98992", "Early-onset nuclear cataract": "ORPHA:98991", "Total early-onset cataract": "ORPHA:98994", "Early-onset posterior polar cataract": "ORPHA:98993", "Butterfly-shaped pigment dystrophy": "ORPHA:99001", "Butterfly-shaped pattern dystrophy": "ORPHA:99001", "Butterfly-shaped pigmentary macular dystrophy": "ORPHA:99001", "Reticular dystrophy of the retinal pigment epithelium": "ORPHA:99002", "Adult-onset foveomacular vitelliform dystrophy": "ORPHA:99000", "AOFMD": "ORPHA:99000", "AVMD": "ORPHA:99000", "Adult-onset foveomacular dystrophy": "ORPHA:99000", "Adult-onset foveomacular dystrophy with choroidal neovascularization": "ORPHA:99000", "Adult-onset vitelliform macular dystrophy": "ORPHA:99000", "Gass disease": "ORPHA:99000", "Pseudo-Best disease": "ORPHA:99000", "Pseudo-vitelliform macular dystrophy": "ORPHA:99000", "Multifocal pattern dystrophy simulating fundus flavimaculatus": "ORPHA:99003", "Multifocal pattern dystrophy simulating Stargardt disease": "ORPHA:99003", "Fundus pulverulentus": "ORPHA:99004", "Spastic paraplegia type 7": "ORPHA:99013", "SPG7": "ORPHA:99013", "X-linked Charcot-Marie-Tooth disease type 5": "ORPHA:99014", "CMT5X": "ORPHA:99014", "CMTX5": "ORPHA:99014", "OBSOLETE: Autosomal recessive optic atrophy, OPA6 type": "ORPHA:99012", "Spastic paraplegia type 2": "ORPHA:99015", "SPG2": "ORPHA:99015", "Spastic gait type 2": "ORPHA:99015", "Spastic paraparesis type 2": "ORPHA:99015", "X-linked spastic paraplegia type 2": "ORPHA:99015", "OBSOLETE: Niemann-Pick disease type E": "ORPHA:99022", "Acute myeloid leukemia with t(9;22)(q34.1;q11.2)": "ORPHA:585867", "AML with BCR-ABL1": "ORPHA:585867", "AML with t(9;22)(q34.1;q11.2)": "ORPHA:585867", "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality": "ORPHA:585877", "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)": "ORPHA:585909", "B-ALL with t(9;22)(q34.1;q11.2)": "ORPHA:585909", "BCR-ABL1-like B-ALL": "ORPHA:585909", "Philadelphia chromosome-like B-ALL": "ORPHA:585909", "B-lymphoblastic leukemia/lymphoma with hyperdiploidy": "ORPHA:585936", "B-lymphoblastic leukemia/lymphoma with hypodiploidy": "ORPHA:585942", "Hypodiploid ALL": "ORPHA:585942", "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)": "ORPHA:585918", "B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged": "ORPHA:585918", "B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged": "ORPHA:585918", "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)": "ORPHA:585929", "B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1": "ORPHA:585929", "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1": "ORPHA:585929", "Adult-onset autosomal dominant leukodystrophy": "ORPHA:99027", "ADLD": "ORPHA:99027", "Adult-onset autosomal dominant demyelinating leukodystrophy": "ORPHA:99027", "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)": "ORPHA:585956", "B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1": "ORPHA:585956", "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)": "ORPHA:585948", "B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH": "ORPHA:585948", "Sporadic fatal insomnia": "ORPHA:586130", "Congenitally uncorrected transposition of the great arteries with coarctation": "ORPHA:99042", "Congenitally uncorrected transposition of the great vessels with coarctation": "ORPHA:99042", "TGA with coarctation": "ORPHA:99042", "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis": "ORPHA:99043", "DORV with subaortic or doubly committed VSD with pulmonary stenosis": "ORPHA:99043", "DORV, Fallot type": "ORPHA:99043", "Double outlet right ventricle, Fallot type": "ORPHA:99043", "Double outlet right ventricle with subaortic ventricular septal defect": "ORPHA:99044", "Double outlet right ventricle with subpulmonary ventricular septal defect": "ORPHA:99045", "DORV with subpulmonary VSD": "ORPHA:99045", "DORV-TGA": "ORPHA:99045", "Double outlet right ventricle with transposition of the great arteries": "ORPHA:99045", "Taussig-Bing syndrome": "ORPHA:99045", "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect": "ORPHA:99046", "DORV with non-committed subpulmonary VSD": "ORPHA:99046", "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome": "ORPHA:99048", "APV/PDA, non-Fallot type": "ORPHA:99048", "Double outlet right ventricle with doubly committed ventricular septal defect": "ORPHA:99047", "Abnormal origin of right or left pulmonary artery from the aorta": "ORPHA:99050", "Hemitruncus arteriosus": "ORPHA:99050", "Pulmonary artery coming from the aorta": "ORPHA:99050", "Pulmonary artery coming from patent ductus arteriosus": "ORPHA:99049", "Discrete fibromuscular subaortic stenosis": "ORPHA:99052", "Discrete fixed membranous subaortic stenosis": "ORPHA:99051", "Valvular pulmonary stenosis": "ORPHA:99054", "Tunnel subaortic stenosis": "ORPHA:99053", "Parachute tricuspid valve": "ORPHA:99056", "Congenital anomaly of the tricuspid valve chordae": "ORPHA:99055", "Congenital anomaly of tricuspid chordae tendineae": "ORPHA:99055", "Congenital anomaly of tricuspid tendinous chords": "ORPHA:99055", "Hypoplasia of the mitral valve annulus": "ORPHA:99058", "Congenital mitral stenosis": "ORPHA:99057", "Congenital unguarded mitral orifice": "ORPHA:99060", "Congenital supravalvular mitral ring": "ORPHA:99059", "Mitral valve agenesis": "ORPHA:99062", "Accessory mitral valve tissue": "ORPHA:99061", "EEC syndrome and related disorders": "ORPHA:98609", "EEC syndrome and related syndrome": "ORPHA:98609", "Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders": "ORPHA:98609", "Rare disorder with conjunctival involvement as a major feature": "ORPHA:98610", "OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system": "ORPHA:98608", "OBSOLETE: Conjunctival telangiectasia": "ORPHA:98613", "OBSOLETE: Conjunctival lymphangiectasia": "ORPHA:98614", "OBSOLETE: Conjunctival vascular anomaly": "ORPHA:98611", "OBSOLETE: Conjunctival hemangioma or hemolymphangioma": "ORPHA:98612", "OBSOLETE: Eyebrow/eyelashes pigmentation anomaly": "ORPHA:98601", "Rare disorder of the lacrimal apparatus": "ORPHA:98602", "Rare lacrimal system disease": "ORPHA:98602", "OBSOLETE: Eyebrow/eyelashes structural anomaly": "ORPHA:98599", "OBSOLETE: Eyebrow/eyelashes distichiasis": "ORPHA:98600", "Lacrimal drainage system anomaly": "ORPHA:98605", "Excretory apparatus of the lacrimal system anomaly": "ORPHA:98605", "Syndromic orbital border hypoplasia": "ORPHA:98606", "Urrets-Zavalia syndrome": "ORPHA:98606", "OBSOLETE: Secretory apparatus of the lacrimal system anomaly": "ORPHA:98603", "Congenital alacrima": "ORPHA:98604", "Rare eyebrow/eyelash disorder": "ORPHA:98594", "Rare eyebrow/eyelashes anomaly": "ORPHA:98594", "OBSOLETE: Neurogenic palpebral tumor": "ORPHA:98593", "OBSOLETE: Palpebral tumor with a vascular malformation": "ORPHA:98592", "OBSOLETE: Mesenchymatous palpebral tumor": "ORPHA:98591", "OBSOLETE: Congenital absence of the eyebrow/eyelashes": "ORPHA:98598", "OBSOLETE: Eyelashes hypertrophy": "ORPHA:98597", "OBSOLETE: Eyelashes polytrichia": "ORPHA:98597", "OBSOLETE: Eyelashes trichomegalia": "ORPHA:98597", "OBSOLETE: Eyebrow hypertrophy": "ORPHA:98596", "OBSOLETE: Eyebrow/eyelashes hypertrichosis": "ORPHA:98595", "OBSOLETE: Pigmented palpebral tumor": "ORPHA:98586", "OBSOLETE: Palpebral sebaceous gland tumor": "ORPHA:98585", "OBSOLETE: Malignant tumor of palpebral epidermis": "ORPHA:98584", "OBSOLETE: Precancerous lesion of palpebral epidermis": "ORPHA:98583", "OBSOLETE: Palpebral piliary tumor": "ORPHA:98590", "OBSOLETE: Palpebral malignant melanoma": "ORPHA:98589", "OBSOLETE: Palpebral nevus": "ORPHA:98588", "OBSOLETE: Palpebral lentiginosis": "ORPHA:98587", "Syndromic telecanthus": "ORPHA:98575", "Syndromic outer canthal malposition": "ORPHA:98576", "Malposition of external canthus": "ORPHA:98576", "OBSOLETE: Kinetic eyelid anomaly": "ORPHA:98577", "Rare disorder with ptosis": "ORPHA:98578", "OBSOLETE: Congenital upper palpebral retraction": "ORPHA:98579", "OBSOLETE: Palpebral tumor": "ORPHA:98580", "OBSOLETE: Palpebral epidermal tumor": "ORPHA:98581", "OBSOLETE: Benign tumor of palpebral epidermis": "ORPHA:98582", "Rare eyelid malposition disorder": "ORPHA:98567", "Eyelids malposition disorder": "ORPHA:98567", "OBSOLETE: Congenital entropion": "ORPHA:98568", "OBSOLETE: Secondary entropion": "ORPHA:98569", "Congenital ectropion": "ORPHA:98570", "Secondary ectropion": "ORPHA:98571", "OBSOLETE: Canthal anomaly": "ORPHA:98572", "OBSOLETE: Epicanthal fold": "ORPHA:98573", "Syndromic epicanthus": "ORPHA:98574", "Rare palpebral disorder": "ORPHA:98560", "OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease": "ORPHA:98559", "Cryptophthalmia": "ORPHA:98562", "Congenital malformation of the eyelid": "ORPHA:98561", "Eyelid border anomaly": "ORPHA:98564", "Microblepharon-ablephara syndrome": "ORPHA:98563", "Syndromic eyelid coloboma": "ORPHA:98566", "Syndromic palpebral coloboma": "ORPHA:98566", "Syndromic ankyloblepharon filiforme adnatum": "ORPHA:98565", "Syndromic ankyloblepharon": "ORPHA:98565", "OBSOLETE: Major induction processes eye anomaly": "ORPHA:98554", "Developmental defect of the eye": "ORPHA:98553", "Microphthalmia-anophthalmia-coloboma": "ORPHA:98555", "Anophthalmia-microphthalmia syndrome": "ORPHA:98555", "OBSOLETE: Rare eye disease due to a differentiation anomaly": "ORPHA:98558", "Syndromic aniridia": "ORPHA:98557", "OBSOLETE: Autosomal recessive syndromic optic atrophy": "ORPHA:98677", "OBSOLETE: X-linked recessive optic atrophy": "ORPHA:98678", "OBSOLETE: Autosomal recessive optic atrophy": "ORPHA:98675", "Autosomal recessive isolated optic atrophy": "ORPHA:98676", "Autosomal recessive non-syndromic optic atrophy": "ORPHA:98676", "Autosomal dominant optic atrophy, classic form": "ORPHA:98673", "Autosomal dominant optic atrophy, Kjer type": "ORPHA:98673", "Kjer optic atrophy": "ORPHA:98673", "Optic atrophy type 1": "ORPHA:98673", "Hereditary optic neuropathy": "ORPHA:98671", "Autosomal dominant optic atrophy": "ORPHA:98672", "ADOA": "ORPHA:98672", "DOA": "ORPHA:98672", "OBSOLETE: Congenital vitreoretinal dysplasia": "ORPHA:98669", "OBSOLETE: Vitreoretinal degeneration": "ORPHA:98670", "OBSOLETE: Disease predisposing to age-related macular degeneration": "ORPHA:98667", "Vitreoretinopathy": "ORPHA:98668", "OBSOLETE: Colobomatous and areolar dystrophy": "ORPHA:98665", "OBSOLETE: Unclassified primitive or secondary maculopathy": "ORPHA:98666", "OBSOLETE: Genetic macular dystrophy": "ORPHA:98664", "OBSOLETE: Unclassified familial retinal dystrophy": "ORPHA:98662", "Syndromic rod-cone dystrophy": "ORPHA:98661", "Syndromic retinitis pigmentosa": "ORPHA:98661", "Color-vision disease": "ORPHA:98658", "OBSOLETE: Genetic vitreous-retinal disease": "ORPHA:98657", "Lens shape anomaly": "ORPHA:98655", "Lens position anomaly": "ORPHA:98653", "Lens size anomaly": "ORPHA:98652", "Craniofacial anomaly with cataract": "ORPHA:98650", "Dentocutaneous disease with cataract": "ORPHA:98649", "Musculoskeletal disease with cataract": "ORPHA:98648", "OBSOLETE: Cardiac disease with cataract": "ORPHA:98647", "OBSOLETE: Systemic disease with cataract": "ORPHA:98643", "Metabolic disease with cataract": "ORPHA:98644", "OBSOLETE: Cerebral disease with cataract": "ORPHA:98645", "Renal disease with cataract": "ORPHA:98646", "Rare lens disease": "ORPHA:98639", "Rare disorder with lens opacification": "ORPHA:98640", "Rare cataract": "ORPHA:98640", "Syndromic cataract": "ORPHA:98641", "Chromosomal anomaly with cataract": "ORPHA:98642", "Corneodysgenesis": "ORPHA:98635", "Corneogoniodysgenesis": "ORPHA:98635", "OBSOLETE: Corneoiridogoniodysgenesis": "ORPHA:98636", "OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly": "ORPHA:98637", "Rare disease with glaucoma as a major feature": "ORPHA:98638", "Congenital malformation of the eye with glaucoma as a major feature": "ORPHA:98631", "OBSOLETE: Glaucoma associated with neural crest cell migration anomaly": "ORPHA:98632", "OBSOLETE: Goniodysgenesis": "ORPHA:98633", "Anterior segment developmental anomaly without extraocular manifestations": "ORPHA:98634", "Syndromic corneal dystrophy": "ORPHA:98628", "Posterior corneal dystrophy": "ORPHA:98627", "OBSOLETE: Rare glaucoma": "ORPHA:98629", "Syndromic keratoconus": "ORPHA:98623", "Stromal corneal dystrophy": "ORPHA:98626", "Superficial corneal dystrophy": "ORPHA:98625", "Anterior corneal dystrophy": "ORPHA:98625", "OBSOLETE: Syndromic myopia": "ORPHA:98620", "Rare isolated myopia": "ORPHA:98619", "Syndromic hyperopia": "ORPHA:98622", "Rare hyperopia and astigmatism": "ORPHA:98621", "OBSOLETE: Conjunctival tumor": "ORPHA:98616", "OBSOLETE: Pigmented conjunctival lesion": "ORPHA:98615", "Rare refraction anomaly": "ORPHA:98618", "OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma": "ORPHA:98617", "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency": "ORPHA:583602", "Phosphoserine aminotransferase deficiency, prenatal form": "ORPHA:583602", "OBSOLETE: Atrioventricular discordance": "ORPHA:98730", "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency": "ORPHA:583607", "3-phosphoglycerate dehydrogenase deficiency, prenatal form": "ORPHA:583607", "Congenital pulmonary veins anomaly": "ORPHA:98729", "Serine biosynthesis pathway deficiency, infantile/juvenile form": "ORPHA:583595", "Rare atrial defect and interatrial communication": "ORPHA:98727", "Atrial defect and interauricular communication": "ORPHA:98727", "OBSOLETE: Cardioskeletal syndrome": "ORPHA:98734", "Noonan syndrome and Noonan-related syndrome": "ORPHA:98733", "Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency": "ORPHA:583612", "3-phosphoserine phosphatase deficiency, prenatal form": "ORPHA:583612", "OBSOLETE: Syndrome associated with a congenital cardiopathy": "ORPHA:98732", "Congenital arteriovenous fistula": "ORPHA:98731", "Isolated splenic vein thrombosis": "ORPHA:583856", "Neurological muscular channelopathy due to a genetic sodium channel defect": "ORPHA:98738", "Isolated mesenteric vein thrombosis": "ORPHA:583861", "Genetic neurological muscular channelopathy": "ORPHA:98737", "OBSOLETE: Genetic neurological channelopathy": "ORPHA:98736", "Neurological muscular channelopathy due to a genetic ryanodine receptor defect": "ORPHA:98742", "Neurological muscular channelopathy due to a genetic potassium channel defect": "ORPHA:98741", "Neurological muscular channelopathy due to a genetic calcium channel defect": "ORPHA:98740", "Neurological muscular channelopathy due to a genetic chloride channel defect": "ORPHA:98739", "OBSOLETE: Metabolic disease with pigmentary retinitis": "ORPHA:98713", "OBSOLETE: Metabolic disease with macular cherry-red spot": "ORPHA:98714", "OBSOLETE: Metabolic disease with corneal opacity": "ORPHA:98711", "OBSOLETE: Metabolic disease with cataract": "ORPHA:98712", "Transposition of the great arteries and conotruncal cardiac anomaly": "ORPHA:98717", "Aortic malformation": "ORPHA:98718", "Uveitis": "ORPHA:98715", "Heart position anomaly": "ORPHA:98716", "Congenital tricuspid malformation": "ORPHA:98721", "Atrioventricular septal defect": "ORPHA:98722", "AVSD": "ORPHA:98722", "Atrioventricular canal defect": "ORPHA:98722", "Pulmonary artery or pulmonary branch anomaly": "ORPHA:98719", "Atrioventricular valve anomaly": "ORPHA:98720", "Ascending aorta anomaly": "ORPHA:98725", "OBSOLETE: Pulmonary artery/pulmonary branch anomaly": "ORPHA:98726", "Hypoplastic right heart syndrome": "ORPHA:98723", "Congenital anomaly of the great arteries": "ORPHA:98724", "Congenital aorta, aortic arch or pulmonary arteries anomaly": "ORPHA:98724", "OBSOLETE: Genodermatosis with ocular features": "ORPHA:98696", "OBSOLETE: Mitochondrial disease with eye involvement": "ORPHA:98695", "OBSOLETE: Ichthyosis associated with ocular features": "ORPHA:98698", "OBSOLETE: Genetic keratinization disorder associated with ocular features": "ORPHA:98697", "OBSOLETE: Pigmentation disorder with eye involvement": "ORPHA:98700", "OBSOLETE: Syndromic ichthyosis associated with ocular features": "ORPHA:98699", "OBSOLETE: Connective tissue disease with eye involvement": "ORPHA:98702", "OBSOLETE: Phakomatosis with eye involvement": "ORPHA:98701", "OBSOLETE: Onycho-patellar syndrome with eye involvement": "ORPHA:98704", "OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features": "ORPHA:98703", "Oculocutaneous or ocular albinism": "ORPHA:98706", "OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism": "ORPHA:98708", "OBSOLETE: Metabolic disease associated with ocular features": "ORPHA:98710", "OBSOLETE: Ectodermal malformation syndrome associated with ocular features": "ORPHA:98709", "Rare disorder with strabismus": "ORPHA:98681", "NON RARE IN EUROPE: Essential strabismus": "ORPHA:98682", "Syndromic disorder with strabismus": "ORPHA:98683", "Syndrome with a symptomatic strabismus": "ORPHA:98683", "Craniostenosis with strabismus": "ORPHA:98684", "Rare oculomotor nerve disorder": "ORPHA:98685", "Congenital trochlear nerve palsy": "ORPHA:98686", "Congenital CNIV palsy": "ORPHA:98686", "Congenital fourth cranial nerve palsy": "ORPHA:98686", "Congenital superior oblique palsy": "ORPHA:98686", "Supranuclear eye movement disorder": "ORPHA:98687", "Oculomotor apraxia": "ORPHA:98688", "OBSOLETE: Myopathy with eye involvement": "ORPHA:98689", "OBSOLETE: Myasthenic syndrome with eye involvement": "ORPHA:98690", "OBSOLETE: Abnormal eye movements": "ORPHA:98691", "Congenital infiltrating lipomatosis of the face": "ORPHA:583097", "CIL-F": "ORPHA:583097", "Facial infused lipomatosis": "ORPHA:583097", "Fibroadipose infiltrating lipomatosis": "ORPHA:583097", "OBSOLETE: Nervous system anomaly with eye involvement": "ORPHA:98692", "OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly": "ORPHA:98693", "OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly": "ORPHA:98694", "Isochromosomy Yq syndrome": "ORPHA:98798", "Isochromosomy Yp syndrome": "ORPHA:98797", "Angelman syndrome due to paternal uniparental disomy of chromosome 15": "ORPHA:98795", "UPD(15)pat": "ORPHA:98795", "Angelman syndrome due to maternal 15q11q13 deletion": "ORPHA:98794", "Angelman syndrome due to maternal monosomy 15q11q13": "ORPHA:98794", "Prader-Willi syndrome due to paternal 15q11q13 deletion": "ORPHA:98793", "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16": "ORPHA:98791", "ATR syndrome linked to chromosome 16": "ORPHA:98791", "ATR syndrome, deletion type": "ORPHA:98791", "ATR-16 syndrome": "ORPHA:98791", "Alpha thalassemia-intellectual disability syndrome, deletion type": "ORPHA:98791", "Primary dystonia, DYT6 type": "ORPHA:98806", "DYT6": "ORPHA:98806", "Generalized cervical and upper-limb-onset dystonia": "ORPHA:98806", "Idiopathic torsion dystonia of mixed type": "ORPHA:98806", "Primary dystonia, DYT4 type": "ORPHA:98805", "DYT4": "ORPHA:98805", "Hereditary whispering dysphonia": "ORPHA:98805", "Pitt-Rogers-Danks syndrome": "ORPHA:98788", "Intellectual disability-dysmorphism-intrauterine growth retardation syndrome": "ORPHA:98788", "Autosomal dominant nocturnal frontal lobe epilepsy": "ORPHA:98784", "ADNFLE": "ORPHA:98784", "Autosomal dominant sleep-related hypermotor epilepsy": "ORPHA:98784", "Spinocerebellar ataxia type 27A": "ORPHA:98764", "SCA27A": "ORPHA:98764", "Spinocerebellar ataxia type 14": "ORPHA:98763", "SCA14": "ORPHA:98763", "Spinocerebellar ataxia type 5": "ORPHA:98766", "SCA5": "ORPHA:98766", "Spinocerebellar ataxia type 4": "ORPHA:98765", "SCA4": "ORPHA:98765", "Spinocerebellar ataxia type 8": "ORPHA:98760", "SCA8": "ORPHA:98760", "Spinocerebellar ataxia type 17": "ORPHA:98759", "HDL4": "ORPHA:98759", "Huntington disease-like 4": "ORPHA:98759", "SCA17": "ORPHA:98759", "Spinocerebellar ataxia type 12": "ORPHA:98762", "SCA12": "ORPHA:98762", "Spinocerebellar ataxia type 10": "ORPHA:98761", "SCA10": "ORPHA:98761", "Spinocerebellar ataxia type 19/22": "ORPHA:98772", "SCA19/22": "ORPHA:98772", "Spinocerebellar ataxia type 18": "ORPHA:98771", "SCA18": "ORPHA:98771", "Spinocerebellar ataxia type 21": "ORPHA:98773", "SCA21": "ORPHA:98773", "Spinocerebellar ataxia type 13": "ORPHA:98768", "SCA13": "ORPHA:98768", "Spinocerebellar ataxia type 11": "ORPHA:98767", "SCA11": "ORPHA:98767", "Spinocerebellar ataxia type 16": "ORPHA:98770", "SCA16": "ORPHA:98770", "Spinocerebellar ataxia type 15/16": "ORPHA:98769", "SCA15/16": "ORPHA:98769", "Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect": "ORPHA:98747", "QRICH1-related intellectual disability-chondrodysplasia syndrome": "ORPHA:580940", "Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect": "ORPHA:98748", "Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect": "ORPHA:98749", "Punctate inner choroidopathy": "ORPHA:580951", "Autoimmune neurological channelopathy": "ORPHA:98750", "Genetic neurological channelopathy of the central nervous system": "ORPHA:98743", "Neurological channelopathy of the central nervous system due to a genetic sodium channel defect": "ORPHA:98744", "Lethal brain and heart developmental defects": "ORPHA:580933", "Neurological channelopathy of the central nervous system due to a genetic calcium channel defect": "ORPHA:98745", "Neurological channelopathy of the central nervous system due to a genetic potassium channel defect": "ORPHA:98746", "Spinocerebellar ataxia type 1": "ORPHA:98755", "SCA1": "ORPHA:98755", "Spinocerebellar ataxia type 2": "ORPHA:98756", "SCA2": "ORPHA:98756", "Spinocerebellar ataxia type 3": "ORPHA:98757", "Azorean disease of the nervous system": "ORPHA:98757", "MJD": "ORPHA:98757", "Machado disease": "ORPHA:98757", "Machado-Joseph disease": "ORPHA:98757", "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia": "ORPHA:98757", "SCA3": "ORPHA:98757", "Spinocerebellar ataxia type 6": "ORPHA:98758", "SCA6": "ORPHA:98758", "OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect": "ORPHA:98751", "Cramp-fasciculation syndrome": "ORPHA:581271", "OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect": "ORPHA:98752", "OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect": "ORPHA:98753", "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15": "ORPHA:98754", "UPD(15)mat": "ORPHA:98754", "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection": "ORPHA:98336", "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect": "ORPHA:98335", "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug": "ORPHA:98338", "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation": "ORPHA:98337", "OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity": "ORPHA:98340", "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin": "ORPHA:98339", "OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury": "ORPHA:98342", "OBSOLETE: Male infertility with normal virilization due to a systemic disease": "ORPHA:98341", "OBSOLETE: Male infertility with normal virilization": "ORPHA:98328", "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease": "ORPHA:98327", "OBSOLETE: Male infertility with normal virilization due to androgen administration": "ORPHA:98330", "OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect": "ORPHA:98329", "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect": "ORPHA:98332", "OBSOLETE: Male infertility with normal virilization due to a testicular defect": "ORPHA:98331", "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele": "ORPHA:98334", "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism": "ORPHA:98333", "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature": "ORPHA:98352", "Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature": "ORPHA:98352", "Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature": "ORPHA:98353", "Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature": "ORPHA:98353", "Autosomal recessive isolated diffuse palmoplantar keratoderma": "ORPHA:98356", "Autosomal recessive isolated diffuse palmoplantar hyperkeratosis": "ORPHA:98356", "Autosomal recessive disease with focal palmoplantar keratoderma as a major feature": "ORPHA:98357", "Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature": "ORPHA:98357", "Male infertility due to obstructive azoospermia": "ORPHA:98343", "Male infertility due to impaired sperm transport": "ORPHA:98343", "OBSOLETE: Rare idiopathic male infertility": "ORPHA:98345", "Intraductal tubulopapillary neoplasm of pancreas": "ORPHA:580572", "ITPN": "ORPHA:580572", "Autosomal dominant isolated diffuse palmoplantar keratoderma": "ORPHA:98349", "Autosomal dominant isolated diffuse palmoplantar hyperkeratosis": "ORPHA:98349", "Familial partial lipodystrophy": "ORPHA:98306", "FPLD": "ORPHA:98306", "Genetic lipodystrophy": "ORPHA:98305", "OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder": "ORPHA:98310", "OBSOLETE: Male infertility with impaired virilization": "ORPHA:98309", "Acquired lipodystrophy": "ORPHA:98307", "OBSOLETE: Ichthyosis associated with a peroxisomal disease": "ORPHA:98298", "OBSOLETE: Ichthyosis associated with a protein catabolism anomaly": "ORPHA:98297", "OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly": "ORPHA:98296", "Laminopathy": "ORPHA:98301", "Idiopathic interstitial pneumonia": "ORPHA:98300", "OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly": "ORPHA:98299", "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease": "ORPHA:98321", "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure": "ORPHA:98322", "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity": "ORPHA:98319", "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease": "ORPHA:98320", "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis": "ORPHA:98325", "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder": "ORPHA:98326", "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease": "ORPHA:98323", "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness": "ORPHA:98324", "Male infertility due to gonadal dysgenesis": "ORPHA:98313", "Male infertility due to testicular dysgenesis": "ORPHA:98313", "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect": "ORPHA:98314", "OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia": "ORPHA:98311", "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder": "ORPHA:98312", "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related": "ORPHA:98317", "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin": "ORPHA:98318", "OBSOLETE: Male infertility with impaired virilization due to a viral orchitis": "ORPHA:98315", "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma": "ORPHA:98316", "Partial atrioventricular septal defect with ventricular hypoplasia": "ORPHA:576232", "PAVC with ventricular hypoplasia": "ORPHA:576232", "Partial AVSD with ventricular hypoplasia": "ORPHA:576232", "Partial atrioventricular canal defect with ventricular hypoplasia": "ORPHA:576232", "Partial atrioventricular septal defect with ventricular imbalance": "ORPHA:576232", "Unbalanced partial atrioventricular canal": "ORPHA:576232", "Partial atrioventricular septal defect without ventricular hypoplasia": "ORPHA:576235", "Balanced partial atrioventricular canal": "ORPHA:576235", "PAVC without ventricular hypoplasia": "ORPHA:576235", "Partial AVSD without ventricular hypoplasia": "ORPHA:576235", "Partial atrioventricular canal defect without ventricular hypoplasia": "ORPHA:576235", "Partial atrioventricular septal defect with balanced ventricles": "ORPHA:576235", "Complete atrioventricular septal defect without ventricular hypoplasia": "ORPHA:576227", "Balanced complete atrioventricular canal": "ORPHA:576227", "CAVC without ventricular hypoplasia": "ORPHA:576227", "Complete AVSD without ventricular hypoplasia": "ORPHA:576227", "Complete atrioventricular canal defect without ventricular hypoplasia": "ORPHA:576227", "Complete atrioventricular septal defect with balanced ventricles": "ORPHA:576227", "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder": "ORPHA:98396", "Middle East respiratory syndrome": "ORPHA:576074", "MERS": "ORPHA:576074", "Cathepsin A-related arteriopathy-strokes-leukoencephalopathy": "ORPHA:575553", "CARASAL": "ORPHA:575553", "Primary acquired red cell aplasia": "ORPHA:98421", "Primary autoimmune red cell aplasia": "ORPHA:98421", "Genetic hemolytic uremic syndrome": "ORPHA:576742", "Genetic HUS": "ORPHA:576742", "Vitamin B12- and folate-independent constitutional megaloblastic anemia": "ORPHA:98415", "Iatrogenic Creutzfeldt-Jakob disease": "ORPHA:576379", "Iatrogenic MCJ": "ORPHA:576379", "iCJD": "ORPHA:576379", "Sporadic human prion disease": "ORPHA:576356", "Idiopathic human prion disease": "ORPHA:576356", "NLRC4-related familial cold autoinflammatory syndrome": "ORPHA:576349", "FCAS4": "ORPHA:576349", "Familial cold autoinflammatory syndrome 4": "ORPHA:576349", "NLRC4-related familial cold urticaria": "ORPHA:576349", "Variant Creutzfeldt-Jakob disease": "ORPHA:576370", "Variant MCJ": "ORPHA:576370", "vCJD": "ORPHA:576370", "Acquired human prion disease": "ORPHA:576360", "Infectious human prion disease": "ORPHA:576360", "Intermediate atrioventricular septal defect": "ORPHA:576242", "Intermediate AVSD": "ORPHA:576242", "Intermediate atrioventricular canal defect": "ORPHA:576242", "Transitional atrioventricular canal defect": "ORPHA:576242", "Constitutional megaloblastic anemia due to folate metabolism disorder": "ORPHA:98408", "SATB2-associated syndrome due to a pathogenic variant": "ORPHA:576283", "SATB2-associated syndrome due to a point mutation": "ORPHA:576283", "SATB2-associated syndrome": "ORPHA:576278", "SAS": "ORPHA:576278", "Pheochromocytoma-paraganglioma": "ORPHA:573163", "Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder": "ORPHA:98374", "Hemolytic anemia due to an erythroenzymopathy": "ORPHA:98374", "Split cord malformation type II": "ORPHA:573253", "Diplomyelia": "ORPHA:573253", "SCM type 2": "ORPHA:573253", "SCM type II": "ORPHA:573253", "Split cord malformation type 2": "ORPHA:573253", "Hemolytic anemia due to a disorder of glycolytic enzymes": "ORPHA:98372", "Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies": "ORPHA:98370", "Rare constitutional hemolytic anemia due to an enzyme disorder": "ORPHA:98369", "Constitutional hemolytic anemia due to acanthocytosis": "ORPHA:98366", "Constitutional hemolytic anemia due to acanthocytic disorder": "ORPHA:98366", "Hereditary stomatocytosis": "ORPHA:98365", "Hereditary stomatocytic disease": "ORPHA:98365", "Rare constitutional hemolytic anemia due to a red cell membrane anomaly": "ORPHA:98364", "Rare hemolytic anemia": "ORPHA:98363", "Constitutional sideroblastic anemia": "ORPHA:98362", "Constitutional anemia due to iron metabolism disorder": "ORPHA:98360", "Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency": "ORPHA:574957", "MSMD due to partial JAK1 deficiency": "ORPHA:574957", "Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency": "ORPHA:574957", "Predisposition to severe viral infection due to IRF7 deficiency": "ORPHA:574918", "Autoimmune hemolytic anemia": "ORPHA:98375", "AIHA": "ORPHA:98375", "Split cord malformation": "ORPHA:573278", "SCM": "ORPHA:573278", "Alpha granule disease": "ORPHA:98455", "Dense granule disease": "ORPHA:98456", "Delta granule disease": "ORPHA:98456", "OBSOLETE: X-linked syndromic intellectual disability": "ORPHA:98464", "OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly": "ORPHA:98468", "OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly": "ORPHA:98469", "OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly": "ORPHA:98470", "Skeletal muscle disease": "ORPHA:98472", "Muscular dystrophy": "ORPHA:98473", "Idiopathic inflammatory myopathy": "ORPHA:98482", "IMM": "ORPHA:98482", "Idiopathic inflammatory myositis": "ORPHA:98482", "Metabolic myopathy": "ORPHA:98486", "Brachydactyly type B1": "ORPHA:572385", "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2": "ORPHA:572361", "BPES type 2": "ORPHA:572361", "Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure": "ORPHA:572361", "Rare coagulation disorder": "ORPHA:98429", "Polycythemia": "ORPHA:98427", "Secondary polycythemia": "ORPHA:98428", "Secondary erythrocytosis": "ORPHA:98428", "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia": "ORPHA:572428", "OAS1 deficiency": "ORPHA:572428", "OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia": "ORPHA:572428", "Hereditary combined deficiency of vitamin K-dependent clotting factors": "ORPHA:98434", "Hereditary combined deficiency of factors II, VII, IX and X": "ORPHA:98434", "OBSOLETE: Protease inhibitor anomaly": "ORPHA:98435", "RFVT2-related riboflavin transporter deficiency": "ORPHA:572543", "RTD2": "ORPHA:572543", "Riboflavin transporter deficiency 2": "ORPHA:572543", "RFVT3-related riboflavin transporter deficiency": "ORPHA:572550", "RTD3": "ORPHA:572550", "Riboflavin transporter deficiency 3": "ORPHA:572550", "Microcephaly-short stature-limb abnormalities syndrome": "ORPHA:572773", "MISSLA": "ORPHA:572773", "OBSOLETE: Platelet storage pool disease": "ORPHA:98454", "OBSOLETE: SPD": "ORPHA:98454", "WARS2-related combined oxidative phosphorylation defect": "ORPHA:572798", "Mitochondrial tryptophanyl-tRNA synthetase deficiency": "ORPHA:572798", "DONSON-related microcephaly-short stature-limb abnormalities spectrum": "ORPHA:572761", "Microcephaly-micromelia syndrome": "ORPHA:572768", "MIMIS": "ORPHA:572768", "Non-syndromic pontocerebellar hypoplasia": "ORPHA:98523", "Pontoneocerebellar atrophy": "ORPHA:98523", "Pontoneocerebellar hypoplasia": "ORPHA:98523", "Posterior fossa malformation": "ORPHA:98519", "OBSOLETE: Cystic malformation of the posterior fossa": "ORPHA:98520", "OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa": "ORPHA:98531", "OBSOLETE: Tauopathy with a major tau at 60 kDa": "ORPHA:98532", "Neurodegenerative disease with dementia": "ORPHA:98534", "OBSOLETE: Tauopathy": "ORPHA:98527", "OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration": "ORPHA:98528", "OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa": "ORPHA:98529", "OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa": "ORPHA:98530", "Late-onset ataxia with dementia": "ORPHA:98540", "Early-onset ataxia with dementia": "ORPHA:98539", "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome": "ORPHA:572013", "Infectious disease with dementia": "ORPHA:98542", "Frontotemporal degeneration with dementia": "ORPHA:98535", "Ataxia with dementia": "ORPHA:98538", "Blepharophimosis-ptosis-epicanthus inversus syndrome plus": "ORPHA:572333", "3q23 microdeletion syndrome": "ORPHA:572333", "BPES plus": "ORPHA:572333", "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1": "ORPHA:572354", "BPES type 1": "ORPHA:572354", "Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure": "ORPHA:572354", "Rare cerebrovascular dementia": "ORPHA:98549", "Cerebral lipidosis with dementia": "ORPHA:98544", "Metabolic disease with dementia": "ORPHA:98543", "Infective endocarditis": "ORPHA:570762", "Bacterial endocarditis": "ORPHA:570762", "Infectious endocarditis": "ORPHA:570762", "Acquired neuromuscular junction disease": "ORPHA:98494", "QRSL1-related combined oxidative phosphorylation defect": "ORPHA:570491", "QRSL1-related COXPD": "ORPHA:570491", "Neuromuscular junction disease": "ORPHA:98491", "Ricin poisoning": "ORPHA:570470", "HHV-8-associated multicentric Castleman disease": "ORPHA:570438", "Human herpesvirus-8-associated multicentric Castleman disease": "ORPHA:570438", "Idiopathic multicentric Castleman disease": "ORPHA:570431", "HHV-8-negative multicentric Castleman disease": "ORPHA:570431", "Human herpesvirus-8-negative multicentric Castleman disease": "ORPHA:570431", "Galactose mutarotase deficiency": "ORPHA:570422", "GALM deficiency": "ORPHA:570422", "Galactosemia type 4": "ORPHA:570422", "Bartter syndrome type 5": "ORPHA:570371", "Bartter syndrome type V": "ORPHA:570371", "Transient antenatal Bartter syndrome": "ORPHA:570371", "Genetic peripheral neuropathy": "ORPHA:98497", "Genetic neuromuscular junction disease": "ORPHA:98495", "Rare peripheral neuropathy": "ORPHA:98496", "Acquired motor neuron disease": "ORPHA:98506", "Acquired anterior horn cell disease": "ORPHA:98506", "Genetic motor neuron disease": "ORPHA:98505", "Genetic anterior horn cell disease": "ORPHA:98505", "Motor neuron disease": "ORPHA:98503", "Anterior horn cell disease": "ORPHA:98503", "Cranial nerve and nuclear aplasia": "ORPHA:98518", "Malformation of the cerebellar hemispheres": "ORPHA:98516", "Malformation of the cerebellar vermis": "ORPHA:98514", "Syndromic anorectal malformation": "ORPHA:117573", "Myopathic intestinal pseudoobstruction": "ORPHA:104077", "Leiomyosarcoma of small intestine": "ORPHA:104076", "Adenocarcinoma of the small intestine": "ORPHA:104075", "Adenocarcinoma of the small bowel": "ORPHA:104075", "Metabolic disease with intestinal involvement": "ORPHA:104013", "Rare inflammatory bowel disease": "ORPHA:104012", "Rare tumor of intestine": "ORPHA:104011", "Rare intestinal tumor": "ORPHA:104011", "Rare tumor of bowel": "ORPHA:104011", "Intestinal polyposis syndrome": "ORPHA:104010", "Rare disease involving intestinal motility": "ORPHA:104009", "Short bowel syndrome": "ORPHA:104008", "Congenital enteropathy involving intestinal mucosa development": "ORPHA:104007", "Congenital intestinal disease due to an enzymatic defect": "ORPHA:104006", "Intestinal disease due to fat malabsorption": "ORPHA:104005", "Intestinal disease due to vitamin absorption anomaly": "ORPHA:104004", "Congenital intestinal transport defect": "ORPHA:104003", "Undetermined colitis": "ORPHA:103920", "Autoimmune pancreatitis": "ORPHA:103919", "AIP": "ORPHA:662721", "OBSOLETE: Autoimmune enteropathy type 3": "ORPHA:103917", "Tropical pancreatitis": "ORPHA:103918", "TCP": "ORPHA:103918", "Tropical calcific chronic pancreatitis": "ORPHA:103918", "OBSOLETE: Immunoproliferative small intestinal disease": "ORPHA:103915", "OBSOLETE: IPSID": "ORPHA:103915", "OBSOLETE: Mediterranean lymphoma": "ORPHA:103915", "OBSOLETE: Autoimmune enteropathy type 2": "ORPHA:103916", "Congenital enterocyte heparan sulfate deficiency": "ORPHA:103910", "OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome": "ORPHA:103912", "Congenital sodium diarrhea": "ORPHA:103908", "CSD": "ORPHA:103908", "NHE3 deficiency": "ORPHA:103908", "Na-H exchanger 3 deficiency": "ORPHA:103908", "Non-syndromic congenital sodium diarrhea": "ORPHA:103908", "Sodium/proton exchanger-3 deficiency": "ORPHA:103908", "Trehalase deficiency": "ORPHA:103909", "Isolated trehalose intolerance": "ORPHA:103909", "Chronic diarrhea due to glucoamylase deficiency": "ORPHA:103907", "Maltase-glucoamylase deficiency": "ORPHA:103907", "Acute myeloid leukemia with t(8;21)(q22;q22) translocation": "ORPHA:102724", "AML with t(8;21)(q22;q22) translocation": "ORPHA:102724", "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent": "ORPHA:102379", "AML and myelodysplastic syndromes related to alkylating agent": "ORPHA:102379", "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor": "ORPHA:102381", "AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor": "ORPHA:102381", "Non-syndromic limb malformation": "ORPHA:109011", "Syndrome with limb malformations as a major feature": "ORPHA:109009", "Rare intestinal disease": "ORPHA:117569", "Arthrogryposis syndrome": "ORPHA:109007", "Syndromic respiratory or mediastinal malformation": "ORPHA:108995", "Non-syndromic respiratory or mediastinal malformation": "ORPHA:108993", "Rare disorder due to toxic effects": "ORPHA:108999", "Rare anemia": "ORPHA:108997", "OBSOLETE: Syndromic developmental defect of the eye": "ORPHA:108987", "OBSOLETE: Non-syndromic developmental defect of the eye": "ORPHA:108985", "Syndrome with a central nervous system malformation as a major feature": "ORPHA:108991", "Non-syndromic central nervous system malformation": "ORPHA:108989", "Non-syndromic diaphragmatic or abdominal wall malformation": "ORPHA:108977", "Syndromic diaphragmatic or abdominal wall malformation": "ORPHA:108979", "Syndromic intestinal malformation": "ORPHA:108969", "Non-syndromic visceral malformation": "ORPHA:108971", "Syndromic visceral malformation": "ORPHA:108973", "Syndromic esophageal malformation": "ORPHA:108961", "Non-syndromic gastroduodenal malformation": "ORPHA:108963", "Syndromic gastroduodenal malformation": "ORPHA:108965", "Non-syndromic intestinal malformation": "ORPHA:108967", "Unclassified intestinal pseudoobstruction": "ORPHA:104078", "Non-syndromic esophageal malformation": "ORPHA:108959", "Periodic fever syndrome": "ORPHA:101995", "Immunodeficiency due to a complement cascade protein anomaly": "ORPHA:101992", "Rare epilepsy": "ORPHA:101998", "Primary immunodeficiency": "ORPHA:101997", "Rare ataxia": "ORPHA:102002", "Rare movement disorder": "ORPHA:102003", "Medullar disease": "ORPHA:102000", "Neurovascular malformation": "ORPHA:102006", "Brain inflammatory disease": "ORPHA:102005", "OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells": "ORPHA:101978", "Immunodeficiency predominantly affecting antibody production": "ORPHA:101977", "OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells": "ORPHA:101982", "OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells": "ORPHA:101980", "Congenital neutropenia": "ORPHA:101987", "Constitutional neutropenia": "ORPHA:101987", "Quantitative and/or qualitative congenital phagocyte defect": "ORPHA:101985", "Primary immunodeficiency due to a defect in innate immunity": "ORPHA:101988", "Human herpesvirus 8-related disorder": "ORPHA:102024", "HHV-8-related disorder": "ORPHA:102024", "OBSOLETE: Nuclear cell envelopathy": "ORPHA:102025", "OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis": "ORPHA:102069", "OBSOLETE: Cholestatic hepatic amyloidosis": "ORPHA:102069", "Unexplained periodic fever syndrome": "ORPHA:102237", "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability": "ORPHA:102283", "MCA/MR": "ORPHA:102283", "Multiple congenital anomalies-intellectual disability with or without dysmorphism": "ORPHA:102283", "OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome": "ORPHA:102284", "OBSOLETE: MCA/variable MR": "ORPHA:102284", "OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome": "ORPHA:102284", "Multiple congenital anomalies/dysmorphic syndrome without intellectual disability": "ORPHA:102285", "MCA without intellectual disability": "ORPHA:102285", "Multiple congenital anomalies without intellectual disability with or without dysmorphism": "ORPHA:102285", "Rare syndromic intellectual disability": "ORPHA:102369", "OBSOLETE: Primary glomerular disease": "ORPHA:102373", "Classic lissencephaly": "ORPHA:102009", "Lissencephaly type 1": "ORPHA:102009", "Lissencephaly type 3": "ORPHA:102011", "Other syndrome with lissencephaly as a major feature": "ORPHA:102010", "Complex hereditary spastic paraplegia": "ORPHA:102013", "Complex HSP": "ORPHA:102013", "Complex SPG": "ORPHA:102013", "Complex familial spastic paraplegia": "ORPHA:102013", "Complicated HSP": "ORPHA:102013", "Complicated SPG": "ORPHA:102013", "Complicated familial spastic paraplegia": "ORPHA:102013", "Complicated hereditary spastic paraplegia": "ORPHA:102013", "Pure hereditary spastic paraplegia": "ORPHA:102012", "Pure HSP": "ORPHA:102012", "Pure SPG": "ORPHA:102012", "Pure familial spastic paraplegia": "ORPHA:102012", "Uncomplicated HSP": "ORPHA:102012", "Uncomplicated SPG": "ORPHA:102012", "Uncomplicated familial spastic paraplegia": "ORPHA:102012", "Uncomplicated hereditary spastic paraplegia": "ORPHA:102012", "Autosomal recessive limb-girdle muscular dystrophy": "ORPHA:102015", "Autosomal dominant limb-girdle muscular dystrophy": "ORPHA:102014", "Rickettsial disease": "ORPHA:102021", "Rickettsiae disease": "ORPHA:102021", "Autosomal monosomy syndrome": "ORPHA:102020", "Autosomal deletion": "ORPHA:102020", "Typhus-group rickettsiosis": "ORPHA:102023", "Typhus-group rickettsiae disease": "ORPHA:102023", "Spotted fever rickettsiosis": "ORPHA:102022", "Spotted fever rickettsiae disease": "ORPHA:102022", "Genetic cardiac rhythm disease": "ORPHA:101934", "Anomaly of the mitral subvalvular apparatus": "ORPHA:101932", "Rare non-syndromic intellectual disability": "ORPHA:101685", "Rare NSID": "ORPHA:101685", "Rare hepatic and biliary tract tumor": "ORPHA:101943", "Rare metabolic liver disease": "ORPHA:101940", "Rare biliary tract disease": "ORPHA:101941", "Rare vascular liver disease": "ORPHA:101938", "Rare parenchymal liver disease": "ORPHA:101939", "Rare gastroesophageal disease": "ORPHA:101936", "Rare pancreatic disease": "ORPHA:101937", "Familial isolated congenital asplenia": "ORPHA:101351", "OBSOLETE: Mediterranean spotted fever": "ORPHA:101338", "OBSOLETE: Marseilles fever": "ORPHA:101337", "Rare genetic eye disease": "ORPHA:101435", "Rare genetic ophthalmologic disease": "ORPHA:101435", "Rare urogenital disease": "ORPHA:101433", "OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome": "ORPHA:101356", "Genetic chronic primary adrenal insufficiency": "ORPHA:101960", "Acquired chronic primary adrenal insufficiency": "ORPHA:101963", "Combined T and B cell immunodeficiency": "ORPHA:101972", "OBSOLETE: Rare acquired eye disease": "ORPHA:101949", "Rare eye tumor": "ORPHA:101950", "Rare bronchopulmonary and pleural cavity tumors": "ORPHA:101945", "Rare pulmonary disease": "ORPHA:101944", "Pituitary deficiency": "ORPHA:101957", "Polyendocrinopathy": "ORPHA:101956", "Chronic primary adrenal insufficiency": "ORPHA:101959", "CPAI": "ORPHA:101959", "Chronic adrenocorticoid insufficiency": "ORPHA:101959", "Primary adrenal insufficiency": "ORPHA:101958", "Rare dyslipidemia": "ORPHA:101953", "Rare diabetes mellitus": "ORPHA:101952", "Rare thyroid disease": "ORPHA:101955", "Rare adrenal disease": "ORPHA:101954", "Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency": "ORPHA:664511", "Early-onset severe Hermansky-Pudlak syndrome with deafness": "ORPHA:664511", "Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency": "ORPHA:664511", "Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency": "ORPHA:664511", "HPS10": "ORPHA:664511", "Hermansky-Pudlak syndrome type 10": "ORPHA:664511", "Autosomal recessive dopa-responsive dystonia": "ORPHA:101150", "Autosomal recessive Segawa syndrome": "ORPHA:101150", "DYT5b": "ORPHA:101150", "Tyrosine hydroxylase deficiency": "ORPHA:101150", "Tyrosine hydroxylase-deficient dopa-responsive dystonia": "ORPHA:101150", "Hermansky-Pudlak syndrome due to AP3B1 deficiency": "ORPHA:664500", "HPS2": "ORPHA:664500", "Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency": "ORPHA:664500", "Hermansky-Pudlak syndrome type 2": "ORPHA:664500", "Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency": "ORPHA:664500", "Dystonia 14": "ORPHA:101151", "DYT14": "ORPHA:101151", "Primary hemophagocytic lymphohistiocytosis without hypopigmentation": "ORPHA:664482", "Genetic HLH without hypopigmentation": "ORPHA:664482", "Genetic hemophagocytic lymphohistiocytosis without hypopigmentation": "ORPHA:664482", "Primary HLH without hypopigmentation": "ORPHA:664482", "Spinocerebellar ataxia type 25": "ORPHA:101111", "SCA25": "ORPHA:101111", "Spinocerebellar ataxia type 26": "ORPHA:101112", "SCA26": "ORPHA:101112", "Immune dysregulation disease with immunodeficiency associated with EBV susceptibility": "ORPHA:664456", "Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility": "ORPHA:664456", "Spinocerebellar ataxia type 28": "ORPHA:101109", "SCA28": "ORPHA:101109", "Inherited cancer-predisposing lymphoproliferative syndrome": "ORPHA:664450", "Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome": "ORPHA:664438", "Liang-Wang syndrome": "ORPHA:664438", "Spinocerebellar ataxia type 20": "ORPHA:101110", "SCA20": "ORPHA:101110", "Spinocerebellar ataxia type 22": "ORPHA:101107", "SCA22": "ORPHA:101107", "Spinocerebellar ataxia type 23": "ORPHA:101108", "SCA23": "ORPHA:101108", "Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome": "ORPHA:664430", "SLC4A10-related neurodevelopmental disorder": "ORPHA:664430", "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation": "ORPHA:664416", "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome": "ORPHA:664410", "MEF2C-related syndrome": "ORPHA:664410", "Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language": "ORPHA:664410", "OBSOLETE: Non-secreting chemodectoma": "ORPHA:101106", "Common arterial trunk with pulmonary dominance and interrupted aortic arch": "ORPHA:665058", "OBSOLETE: Kenya tick typhus": "ORPHA:101336", "OBSOLETE: Kenya tick-bite fever": "ORPHA:101336", "Isolated congenital femoral bifurcation": "ORPHA:667589", "Isolated congenital distal femoral duplication": "ORPHA:667589", "OBSOLETE: Indian tick typhus": "ORPHA:101335", "Common arterial trunk with aortic dominance": "ORPHA:665044", "African tick typhus": "ORPHA:101334", "Neonatal renal venous thrombosis": "ORPHA:664912", "NRVT": "ORPHA:664912", "Neonatal RVT": "ORPHA:664912", "Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome": "ORPHA:664923", "NEDMABA disorder": "ORPHA:664923", "Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies": "ORPHA:664923", "Nicolau syndrome": "ORPHA:664787", "Embolia cutis medicamentosa": "ORPHA:664787", "Livedo-like dermatitis": "ORPHA:664787", "Porphyria cutanea tarda": "ORPHA:101330", "PCT": "ORPHA:101330", "Trigeminal trophic syndrome": "ORPHA:664901", "TTS": "ORPHA:664901", "Trigeminal neuropathy with nasal ulceration": "ORPHA:664901", "Trigeminal neurotrophic ulceration": "ORPHA:664901", "Trophic ulceration of the ala nasi": "ORPHA:664901", "EBV-induced lymphoproliferative disease due to TET2 deficiency": "ORPHA:664729", "Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency": "ORPHA:664729", "EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature": "ORPHA:664734", "Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature": "ORPHA:664734", "EBV-induced lymphoproliferative disease due to CD137 deficiency": "ORPHA:664726", "Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency": "ORPHA:664726", "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome": "ORPHA:101206", "APV/ADA, Fallot type": "ORPHA:101206", "Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome": "ORPHA:101206", "PVA/ADA, Fallot type": "ORPHA:101206", "EBV-induced lymphoproliferative disease due to PRKCD deficiency": "ORPHA:664711", "EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency": "ORPHA:664711", "EBV-induced lymphoproliferative disease due to RASGRP1 deficiency": "ORPHA:664699", "Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency": "ORPHA:664699", "Duodenal duplication": "ORPHA:662473", "Charcot-Marie-Tooth disease type 1F": "ORPHA:101085", "CMT1F": "ORPHA:101085", "Small intestine duplication": "ORPHA:662456", "Small bowel duplication": "ORPHA:662456", "Placenta accreta spectrum disorder": "ORPHA:662721", "Abnormally invasive placenta": "ORPHA:662721", "PAI": "ORPHA:662721", "PAS": "ORPHA:658574", "Placenta accreta spectrum": "ORPHA:662721", "Jejuno-ileal duplication": "ORPHA:662480", "X-linked hyper-IgM syndrome": "ORPHA:101088", "HIGM1": "ORPHA:101088", "Hyper-IgM syndrome due to CD40 ligand deficiency": "ORPHA:101088", "Hyper-IgM syndrome due to CD40L deficiency": "ORPHA:101088", "Hyper-IgM syndrome type 1": "ORPHA:101088", "XHIGM": "ORPHA:101088", "Gallbladder duplication": "ORPHA:662388", "Charcot-Marie-Tooth disease type 1A": "ORPHA:101081", "CMT1A": "ORPHA:101081", "Microduplication 17p12": "ORPHA:101081", "Gastric duplication": "ORPHA:662376", "Stomach duplication": "ORPHA:662376", "Charcot-Marie-Tooth disease type 1B": "ORPHA:101082", "CMT1B": "ORPHA:101082", "Pyloric duplication": "ORPHA:662405", "Congenital double pylorus": "ORPHA:662405", "Duplication cyst of the pyloric canal": "ORPHA:662405", "Duplication cyst of the pylorus": "ORPHA:662405", "Charcot-Marie-Tooth disease type 1C": "ORPHA:101083", "CMT1C": "ORPHA:101083", "Colonic duplication": "ORPHA:662392", "Duplication of the colon": "ORPHA:662392", "Charcot-Marie-Tooth disease type 1D": "ORPHA:101084", "CMT1D": "ORPHA:101084", "Frey syndrome": "ORPHA:662240", "Auriculo-temporal syndrome": "ORPHA:662240", "Auriculotemporal syndrome": "ORPHA:662240", "Baillarger syndrome": "ORPHA:662240", "Dupuy syndrome": "ORPHA:662240", "Gustatory hyperhidrosis": "ORPHA:662240", "X-linked Charcot-Marie-Tooth disease type 3": "ORPHA:101077", "CMT3X": "ORPHA:101077", "CMTX3": "ORPHA:101077", "X-linked Charcot-Marie-Tooth disease type 4": "ORPHA:101078", "CMT4X": "ORPHA:101078", "CMTX4": "ORPHA:101078", "Cowchock syndrome": "ORPHA:101078", "Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome": "ORPHA:662234", "Radio-Tartaglia syndrome": "ORPHA:662234", "SPEN-related neurodevelopmental disorder": "ORPHA:662234", "NESCAV syndrome": "ORPHA:662367", "Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome": "ORPHA:662367", "Grisel syndrome": "ORPHA:662255", "Atlantoaxial non-traumatic subluxation": "ORPHA:662255", "Mucopolysaccharidosis type 10": "ORPHA:662216", "Mucopolysaccharidosis type X, MSP type X,MPS10 Mucopolysaccharidosis due to ARSK deficiency": "ORPHA:662216", "Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome": "ORPHA:662207", "HNRPH1-related neurodevelopmental disorder": "ORPHA:662207", "Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects": "ORPHA:662207", "Episodic memory defect leukoencephalopathy": "ORPHA:662229", "Hippocampal memory defect leukoencephalopathy": "ORPHA:662229", "White matter hyperintensities-Episodic memory defect leukoencephalopathy": "ORPHA:662229", "X-linked Charcot-Marie-Tooth disease type 1": "ORPHA:101075", "CMT1X": "ORPHA:101075", "CMTX1": "ORPHA:101075", "X-linked Charcot-Marie-Tooth disease type 2": "ORPHA:101076", "CMTX2": "ORPHA:101076", "MGP-related spondyloepiphyseal dysplasia": "ORPHA:664377", "MGP-related SED": "ORPHA:664377", "Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome": "ORPHA:664377", "Charcot-Marie-Tooth disease type 2H": "ORPHA:101102", "AR-CMT2C": "ORPHA:101102", "Autosomal recessive axonal CMT4C2": "ORPHA:101102", "Axonal Charcot-Marie-Tooth disease with pyramidal involvement": "ORPHA:101102", "CMT2H": "ORPHA:101102", "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation": "ORPHA:664401", "Charcot-Marie-Tooth disease type 2B2": "ORPHA:101101", "AR-CMT2B2": "ORPHA:101101", "Autosomal recessive axonal CMT4C3": "ORPHA:101101", "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2": "ORPHA:101101", "6q25.1 microdeletion syndrome": "ORPHA:664404", "Marin-Amat syndrome": "ORPHA:101104", "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness": "ORPHA:101097", "ARCMT2K": "ORPHA:101097", "Autosomal recessive axonal CMT4C4": "ORPHA:101097", "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K": "ORPHA:101097", "Soft and hard cleft palate": "ORPHA:664372", "Combined form of soft and hard cleft palate": "ORPHA:664372", "Isolated cleft of the soft and hard palate": "ORPHA:664372", "OBSOLETE: Aregenerative anemia": "ORPHA:101096", "Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome": "ORPHA:662762", "ARPC4-related syndrome": "ORPHA:662762", "Hyper-IgM syndrome type 3": "ORPHA:101090", "HIGM3": "ORPHA:101090", "Hyper-IgM syndrome due to CD40 deficiency": "ORPHA:101090", "Vasa previa": "ORPHA:662786", "Hyper-IgM syndrome type 2": "ORPHA:101089", "AID deficiency": "ORPHA:101089", "Activation-induced cytidine deaminase deficiency": "ORPHA:101089", "HIGM2": "ORPHA:101089", "Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome": "ORPHA:662829", "Hyper-IgM syndrome type 5": "ORPHA:101092", "HIGM5": "ORPHA:101092", "Hyper-IgM syndrome due to UNG deficiency": "ORPHA:101092", "Hyper-IgM syndrome due to uracil N-glycosylase": "ORPHA:101092", "Acute megakaryoblastic leukemia in adult": "ORPHA:662934", "AMKL in adult": "ORPHA:662934", "AML M7 in adult": "ORPHA:662934", "Acute megakaryocytic leukemia in adult": "ORPHA:662934", "Acute myeloid leukemia M7 in adult": "ORPHA:662934", "Hyper-IgM syndrome type 4": "ORPHA:101091", "HIGM4": "ORPHA:101091", "Hobnail hemangioma": "ORPHA:675362", "HH": "ORPHA:675362", "THH": "ORPHA:675362", "Targetoid hemosiderotic hemangioma": "ORPHA:675362", "Anastomosing haemangioma": "ORPHA:675359", "OBSOLETE: Microlissencephaly type B": "ORPHA:101052", "Spinocerebellar ataxia type 27B": "ORPHA:675216", "Familial hypocalciuric hypercalcemia type 2": "ORPHA:101049", "FHH type 2": "ORPHA:101049", "Familial hypocalciuric hypercalcemia type 3": "ORPHA:101050", "FHH type 3": "ORPHA:101050", "Bilateral diffuse uveal melanocytic proliferation disease": "ORPHA:674968", "BDUMP": "ORPHA:674968", "Paraneoplastic uveal melanocytic hyperplasia": "ORPHA:674968", "Isolated segmental infantile hemangioma": "ORPHA:675380", "Large segmental hemangioma": "ORPHA:675380", "Segmental hemangioma of infancy": "ORPHA:675380", "Microvenular haemangioma": "ORPHA:675369", "MVH": "ORPHA:675369", "Congenital aortic valve dysplasia": "ORPHA:101043", "Isolated angioid streaks": "ORPHA:674943", "Torpedo Maculopathy": "ORPHA:674935", "Atypical macular coloboma": "ORPHA:674935", "Congenital hypomelanotic freckle": "ORPHA:674935", "Paramacular albinotic spot syndrome": "ORPHA:674935", "Solitary hypopigmented nevus of the retinal pigment epithelium": "ORPHA:674935", "TM": "ORPHA:674935", "Perifoveal exudative vascular anomalous complex": "ORPHA:674930", "PEVAC": "ORPHA:674930", "Familial hypofibrinogenemia": "ORPHA:101041", "OBSOLETE: Taussig-Bing syndrome": "ORPHA:101042", "Isolated retinal racemose hemangioma": "ORPHA:674924", "Isolated retinal arteriovenous aneurysm 3": "ORPHA:674924", "RRH": "ORPHA:674924", "Choroidal osteoma": "ORPHA:674965", "Stellate multiform amelanotic choroidopathy": "ORPHA:674958", "SMACH": "ORPHA:674958", "Serous maculopathy due to aspecific choroidopathy": "ORPHA:674958", "Multiple evanescent white dot syndrome": "ORPHA:674953", "MEWDS": "ORPHA:674953", "Diffuse unilateral subacute neuroretinitis": "ORPHA:674947", "DUSN": "ORPHA:674947", "Unilateral wipe-out syndrome": "ORPHA:674947", "Autosomal dominant epilepsy with auditory features": "ORPHA:101046", "ADEAF": "ORPHA:101046", "ADLTE": "ORPHA:101046", "ADPEAF": "ORPHA:101046", "Autosomal dominant lateral temporal lobe epilepsy": "ORPHA:101046", "Partial epilepsy with auditory aura": "ORPHA:101046", "Partial epilepsy with auditory features": "ORPHA:101046", "Congenital stromal corneal dystrophy": "ORPHA:101068", "CSCD": "ORPHA:101068", "Congenital hereditary stromal dystrophy": "ORPHA:101068", "Witschel dystrophy": "ORPHA:101068", "Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency": "ORPHA:675767", "SCN-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency": "ORPHA:675767", "Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to signal recognition protein 54 deficiency": "ORPHA:675767", "Unilateral hemispheric polymicrogyria": "ORPHA:101071", "Bilateral frontoparietal polymicrogyria": "ORPHA:101070", "Acquired elastotic haemangioma": "ORPHA:675597", "Epithelioid hemangioma": "ORPHA:675396", "ALHE": "ORPHA:675396", "Angiolymphoid hyperplasia with eosinophilia": "ORPHA:675396", "EH": "ORPHA:675396", "May-Thurner syndrome": "ORPHA:675404", "Cockett syndrome": "ORPHA:675404", "MTS": "ORPHA:675404", "TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome": "ORPHA:675628", "INFLTR8": "ORPHA:675628", "Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome": "ORPHA:675628", "Situs inversus totalis": "ORPHA:101063", "Complete situs inversus": "ORPHA:101063", "Complete situs inversus viscerum": "ORPHA:101063", "Situs inversus": "ORPHA:101063", "Intraoral basal cell carcinoma": "ORPHA:667678", "Basal cell carcinoma of the buccal mucosa": "ORPHA:667678", "Basal cell carcinoma of the oral cavity": "ORPHA:667678", "IOBCC intramucosal basal cell carcinoma": "ORPHA:667678", "Breast implant-associated anaplastic large cell lymphoma": "ORPHA:667662", "Breast implant-associated ALCL": "ORPHA:667662", "Seroma-associated ALCL": "ORPHA:667662", "Craniosynostosis-facial dysmorphism-brachydactyly syndrome": "ORPHA:672979", "TCF12-related syndromic craniosynostosis": "ORPHA:672979", "Malignant vascular tumor": "ORPHA:673466", "Metastatic vascular neoplasm": "ORPHA:673466", "Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome": "ORPHA:672985", "ZIC1-related syndromic craniosynostosis": "ORPHA:672985", "Mediterranean macrothrombocytopenia": "ORPHA:101022", "Cleft hard palate": "ORPHA:101023", "Borderline vascular tumor": "ORPHA:673473", "Intermediate tumors": "ORPHA:673473", "Locally aggressive tumors": "ORPHA:673473", "Benign vascular tumor": "ORPHA:673470", "Autosomal dominant spastic paraplegia type 29": "ORPHA:101009", "SPG29": "ORPHA:101009", "Autosomal spastic paraplegia type 30": "ORPHA:101010", "SPG30": "ORPHA:101010", "Autosomal dominant spastic paraplegia type 31": "ORPHA:101011", "SPG31": "ORPHA:101011", "Romano-Ward syndrome": "ORPHA:101016", "Romano-Ward long QT syndrome": "ORPHA:101016", "Classic pilocytic astrocytoma": "ORPHA:673580", "Juvenile pilocytic astrocytoma": "ORPHA:673580", "Pilocytic astrocytoma with histological features of anaplasia": "ORPHA:673585", "Anaplastic pilocytic astrocytoma": "ORPHA:673585", "OBSOLETE: Peters anomaly-cataract syndrome": "ORPHA:101033", "Proteoglycan-related bone disorder": "ORPHA:674499", "OBSOLETE: Zlotogura-Martinez syndrome": "ORPHA:101036", "Syndrome with congenital phagocyte functional defect as a major feature": "ORPHA:674648", "Syndrome with congenital functional defect of phagocyte as a major feature": "ORPHA:674648", "Syndrome with constitutional functional phagocyte defect as a major feature": "ORPHA:674648", "Actinomyopathy-associated syndromic thrombocytopenia": "ORPHA:674653", "ACTB-AST": "ORPHA:674653", "Early-onset autoinflammatory syndrome due to A20 haploinsufficiency": "ORPHA:674762", "Early-onset AID due to HA20": "ORPHA:674762", "Early-onset autoinflammatory disorder due to HA20": "ORPHA:674762", "Early-onset autoinflammatory syndrome associated with TNFAIP3": "ORPHA:674762", "HA20-related monogenic Behcet-like disease": "ORPHA:674762", "Non-syndromic congenital phagocyte functional defect": "ORPHA:674896", "Non-syndromic congenital functional defect of phagocytes": "ORPHA:674896", "Non-syndromic constitutional functional phagocyte defect": "ORPHA:674896", "Female restricted epilepsy with intellectual disability": "ORPHA:101039", "EFMR": "ORPHA:101039", "Juberg-Hellman syndrome": "ORPHA:101039", "Intravascular papillary endothelial hyperplasia": "ORPHA:673525", "IPEH": "ORPHA:673525", "Masson's hemangioma": "ORPHA:673525", "Masson's tumor": "ORPHA:673525", "Masson's vegetant intravascular hemangiendothelioma": "ORPHA:673525", "Reactive papillary endothelial hyperplasia": "ORPHA:673525", "Vegetant intravascular hemangioendothelioma": "ORPHA:673525", "Littoral cell hemangioma of the spleen": "ORPHA:673538", "LCA": "ORPHA:673538", "Littoral cell angioma": "ORPHA:673538", "Transaldolase deficiency": "ORPHA:101028", "TALDO deficiency": "ORPHA:101028", "Papillary hemangioma": "ORPHA:673543", "Papillary capillary hemangioma": "ORPHA:673543", "Subependymal nodular heterotopia": "ORPHA:101030", "Sub-cortical nodular heterotopia": "ORPHA:101029", "Pseudomyogenic hemangioendothelioma": "ORPHA:673556", "Eccrine angiomatous hamartoma": "ORPHA:673568", "EAH": "ORPHA:673568", "Eccrine angiomatous nevus": "ORPHA:673568", "Reactive angioendotheliomatosis": "ORPHA:673574", "Cutaneous reactive dermatoses": "ORPHA:673574", "RA": "ORPHA:673574", "RAE": "ORPHA:100057", "Autosomal dominant spastic paraplegia type 3": "ORPHA:100984", "Autosomal dominant spastic paraplegia type 3A": "ORPHA:100984", "SPG3A": "ORPHA:100984", "Str\u00fcmpell disease": "ORPHA:100984", "Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome": "ORPHA:685067", "ARED14": "ORPHA:685067", "Autosomal recesive ectodermal dysplasia 14": "ORPHA:685067", "Pediatric acute respiratory distress syndrome": "ORPHA:685082", "PARDS": "ORPHA:685082", "Pediatric ARDS": "ORPHA:685082", "Combined immunodeficiency due to TBX1 deficiency": "ORPHA:685017", "Autosomal recessive pure spastic paraplegia": "ORPHA:100982", "Autosomal recessive pure HSP": "ORPHA:100982", "Autosomal recessive pure SPG": "ORPHA:100982", "Autosomal recessive uncomplicated HSP": "ORPHA:100982", "Autosomal recessive uncomplicated SPG": "ORPHA:100982", "Autosomal recessive uncomplicated spastic paraplegia": "ORPHA:100982", "Autosomal recessive complex spastic paraplegia": "ORPHA:100981", "Autosomal recessive complex HSP": "ORPHA:100981", "Autosomal recessive complex SPG": "ORPHA:100981", "Autosomal recessive complicated HSP": "ORPHA:100981", "Autosomal recessive complicated SPG": "ORPHA:100981", "Autosomal recessive complicated spastic paraplegia": "ORPHA:100981", "Primary pericardial mesothelioma": "ORPHA:685004", "PPM": "ORPHA:685004", "Primary malignant pericardial mesothelioma": "ORPHA:685004", "Autosomal dominant pure spastic paraplegia": "ORPHA:100980", "Autosomal dominant pure HSP": "ORPHA:100980", "Autosomal dominant pure SPG": "ORPHA:100980", "Autosomal dominant uncomplicated HSP": "ORPHA:100980", "Autosomal dominant uncomplicated SPG": "ORPHA:100980", "Autosomal dominant uncomplicated spastic paraplegia": "ORPHA:100980", "Mesothelioma of the tunica vaginalis": "ORPHA:685010", "Malignant mesothelioma of the tunica vaginalis": "ORPHA:685010", "Autosomal dominant complex spastic paraplegia": "ORPHA:100979", "Autosomal dominant complex HSP": "ORPHA:100979", "Autosomal dominant complex SPG": "ORPHA:100979", "Autosomal dominant complicated HSP": "ORPHA:100979", "Autosomal dominant complicated SPG": "ORPHA:100979", "Autosomal dominant complicated spastic paraplegia": "ORPHA:100979", "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome": "ORPHA:100978", "Benallegue-Lacete syndrome": "ORPHA:100978", "Malformation of the anal canal and the rectum": "ORPHA:684757", "Post 5-alpha-reductase inhibitors treatment syndrome": "ORPHA:686468", "Post-selective serotonin reuptake inhibitor sexual dysfunction": "ORPHA:686475", "PSSD": "ORPHA:686475", "Post-SSRI sexual dysfunction": "ORPHA:686475", "Autosomal dominant spastic paraplegia type 10": "ORPHA:100991", "SPG10": "ORPHA:100991", "OBSOLETE: Autosomal dominant spastic paraplegia type 9": "ORPHA:100990", "OBSOLETE: SPG9": "ORPHA:100990", "Non-fibrotic hypersensitivity pneumonitis": "ORPHA:686462", "Fibrotic hypersensitivity pneumonitis": "ORPHA:686465", "Autosomal dominant spastic paraplegia type 8": "ORPHA:100989", "SPG8": "ORPHA:100989", "Autosomal dominant spastic paraplegia type 6": "ORPHA:100988", "SPG6": "ORPHA:100988", "IFNG-responsive severe mendelian susceptibility to mycobacterial diseases": "ORPHA:686447", "IFNG-responsive severe MSMD": "ORPHA:686447", "Interferon gamma-responsive severe mendelian susceptibility to mycobacterial diseases": "ORPHA:686447", "Autosomal recessive spastic paraplegia type 5A": "ORPHA:100986", "SPG5A": "ORPHA:100986", "Autosomal dominant spastic paraplegia type 4": "ORPHA:100985", "SPG4": "ORPHA:100985", "10p15 microdeletion syndrome": "ORPHA:687424", "Del(10)(p15)": "ORPHA:687424", "Deletion 10p15": "ORPHA:687424", "Autosomal dominant spastic paraplegia type 19": "ORPHA:100999", "SPG19": "ORPHA:100999", "Autosomal recessive spastic paraplegia type 20": "ORPHA:101000", "Childhood-onset spastic paraparesis-distal muscle wasting syndrome": "ORPHA:101000", "SPG20": "ORPHA:101000", "Troyer syndrome": "ORPHA:101000", "Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome": "ORPHA:686999", "PLAAT3-related lipodystrophy syndrome": "ORPHA:686999", "X-linked spastic paraplegia type 16": "ORPHA:100997", "SPG16": "ORPHA:100997", "Isolated congenital cholesteatoma of the middle ear": "ORPHA:686556", "CCME": "ORPHA:686556", "CMEC": "ORPHA:686556", "Congenital middle ear cholesteatoma": "ORPHA:686556", "Autosomal dominant spastic paraplegia type 17": "ORPHA:100998", "SPG17": "ORPHA:100998", "Silver syndrome": "ORPHA:100998", "Spastic paraplegia-amyotrophy of hands and feet": "ORPHA:100998", "Autosomal recessive spastic paraplegia type 14": "ORPHA:100995", "SPG14": "ORPHA:100995", "MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome": "ORPHA:686495", "Autosomal recessive spastic paraplegia type 15": "ORPHA:100996", "Hereditary spastic paraparesis type 15": "ORPHA:100996", "Kjellin syndrome": "ORPHA:100996", "SPG15": "ORPHA:100996", "Spastic paraplegia-retinal degeneration syndrome": "ORPHA:100996", "RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome": "ORPHA:686488", "RNU4-2-related neurodevelopmental syndrome": "ORPHA:686488", "Autosomal dominant spastic paraplegia type 12": "ORPHA:100993", "SPG12": "ORPHA:100993", "BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome": "ORPHA:686482", "BPTF-related NEDDFL": "ORPHA:686482", "BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies": "ORPHA:686482", "Autosomal dominant spastic paraplegia type 13": "ORPHA:100994", "SPG13": "ORPHA:100994", "Combined immunodeficiency with normal Ig and poor specific antibody response": "ORPHA:688563", "CID with normal Ig and poor specific antibody response": "ORPHA:688563", "Combined immunodeficiency with normal immunoglobulins and poor specific antibody response": "ORPHA:688563", "Autosomal recessive spastic paraplegia type 27": "ORPHA:101007", "SPG27": "ORPHA:101007", "Reticular dysgenesis-like severe combined immunodeficiency": "ORPHA:688543", "Activated RAC2-associated severe combined immunodeficiency": "ORPHA:688543", "Activated Rac2 defect": "ORPHA:688543", "Non-syndromic reticular dysgenesis": "ORPHA:688543", "Reticular dysgenesis-like SCID": "ORPHA:688543", "Autosomal recessive spastic paraplegia type 28": "ORPHA:101008", "SPG28": "ORPHA:101008", "Splenic venous malformation": "ORPHA:688523", "Splenic cavernous malformation": "ORPHA:688523", "Splenic slow flow venous malformation": "ORPHA:688523", "Venous malformation of the spleen": "ORPHA:688523", "Autosomal recessive spastic paraplegia type 25": "ORPHA:101005", "Autosomal recessive spastic paraplegia-disc herniation syndrome": "ORPHA:101005", "SPG25": "ORPHA:101005", "Autosomal recessive spastic paraplegia type 26": "ORPHA:101006", "GM2 synthase deficiency": "ORPHA:101006", "SPG26": "ORPHA:101006", "Multisystem Langerhans cell histiocytosis": "ORPHA:687741", "Multisystem Langerhans cell granulomatosis": "ORPHA:687741", "Multisystem histiocytosis X": "ORPHA:687741", "Single-system multifocal Langerhans cell histiocytosis": "ORPHA:687738", "Single-system multifocal Langerhans cell granulomatosis": "ORPHA:687738", "Single-system multifocal histiocytosis X": "ORPHA:687738", "Autosomal recessive spastic paraplegia type 23": "ORPHA:101003", "Lison syndrome": "ORPHA:101003", "SPG23": "ORPHA:101003", "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome": "ORPHA:101003", "Pulmonary Langerhans cell histiocytosis": "ORPHA:687733", "PLCH": "ORPHA:687733", "Single-system Langerhans cell granulomatosis": "ORPHA:687733", "Single-system pulmonary Langerhans cell histiocytosis": "ORPHA:687733", "Single-system pulmonary histiocytosis X": "ORPHA:687733", "Autosomal recessive spastic paraplegia type 24": "ORPHA:101004", "SPG24": "ORPHA:101004", "Unifocal Langerhans cell histiocytosis": "ORPHA:687730", "Unifocal Langerhans cell granulomatosis": "ORPHA:687730", "Unifocal histiocytosis X": "ORPHA:687730", "Autosomal recessive spastic paraplegia type 21": "ORPHA:101001", "Mast syndrome": "ORPHA:101001", "SPG21": "ORPHA:101001", "10p13-p14 deletion syndrome": "ORPHA:687695", "Del(10)(p13p14)": "ORPHA:687695", "Deletion 10p13-p14": "ORPHA:687695", "Well-differentiated papillary mesothelial tumour of the pleura": "ORPHA:675822", "Rare thyroid carcinoma": "ORPHA:100088", "Localized pleural mesothelioma": "ORPHA:675833", "Diffused pleural mesothelioma": "ORPHA:675837", "Adrenal/paraganglial tumor": "ORPHA:100091", "Pleural mesothelioma in situ": "ORPHA:675841", "Rare parathyroid tumor": "ORPHA:100090", "Primary hepatic neuroendocrine carcinoma": "ORPHA:100085", "Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome": "ORPHA:675775", "Middle ear neuroendocrine tumor": "ORPHA:100084", "Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN": "ORPHA:675782", "Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5": "ORPHA:675782", "Rare thyroid tumor": "ORPHA:100087", "Adenomatoid tumour of the pleura": "ORPHA:675814", "Gallbladder neuroendocrine tumor": "ORPHA:100086", "Combined immunodeficiency due to FOXN1 haploinsufficiency": "ORPHA:676039", "Neuroendocrine tumor with other location": "ORPHA:100101", "Thymic tumor": "ORPHA:100100", "X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency": "ORPHA:676125", "DEX": "ORPHA:676125", "Deficiency in ELF4, X-linked": "ORPHA:676125", "X-AIDE": "ORPHA:676125", "X-linked autoinflammatory and immunodeficiency disease associated with ELF4": "ORPHA:676125", "X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency": "ORPHA:676125", "Adenomatoid tumour of the peritoneum": "ORPHA:675976", "Carcinoid syndrome": "ORPHA:100093", "Malignant carcinoid syndrome": "ORPHA:100093", "Primary benign peritoneal tumor": "ORPHA:676030", "Gastroenteropancreatic neuroendocrine neoplasm": "ORPHA:100092", "GEP-NEN": "ORPHA:100092", "Well-differentiated papillary mesothelial tumour of the peritoneum": "ORPHA:676033", "Peritoneal mesothelioma in situ": "ORPHA:676036", "Multiple polyglandular tumor": "ORPHA:100094", "Porphyria due to ALA dehydratase deficiency": "ORPHA:100924", "ALAD porphyria": "ORPHA:100924", "Porphyria due to ALAD deficiency": "ORPHA:100924", "Porphyria due to delta-aminolevulinate dehydratase deficiency": "ORPHA:100924", "Porphyria of Doss": "ORPHA:100924", "Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome": "ORPHA:684216", "BEFAHRS": "ORPHA:684216", "Beck-Fahrner syndrome": "ORPHA:684216", "Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome": "ORPHA:684216", "TET3 deficiency": "ORPHA:684216", "TET3-related Beck-Fahrner syndrome": "ORPHA:684216", "OBSOLETE: Nuclear oculomotor paralysis": "ORPHA:100932", "NON RARE IN EUROPE: Gonorrhea": "ORPHA:100642", "NOCGUS syndrome": "ORPHA:684305", "Neuro-oculo-cardio-genito-urinary syndrome": "ORPHA:684305", "Neurooculocardiogenitourinary syndrome": "ORPHA:684305", "FRAXE intellectual disability": "ORPHA:100973", "Intellectual disability associated with fragile site FRAXE": "ORPHA:100973", "FRAXF syndrome": "ORPHA:100974", "Hypertrophic olivary degeneration": "ORPHA:684290", "HOD": "ORPHA:684290", "Isolated anal canal duplication": "ORPHA:684752", "ACD": "ORPHA:684752", "2q13 microdeletion syndrome": "ORPHA:684742", "del2q13 syndrome": "ORPHA:684742", "Bathing suit ichthyosis": "ORPHA:100976", "BSI": "ORPHA:100976", "Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome": "ORPHA:684232", "Den Hoed-De Boer-Voisin syndrome": "ORPHA:684232", "Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome": "ORPHA:684226", "KMT5B haploinsufficiency neurodevelopmental disorder": "ORPHA:684226", "Isolated growth hormone deficiency type IV": "ORPHA:684247", "Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome": "ORPHA:684240", "KABAMAS": "ORPHA:684240", "Kaya-Barakat-Masson syndrome": "ORPHA:684240", "F12-related hereditary angioedema with normal C1Inh": "ORPHA:100054", "F12-related HAE with normal C1 inhibitor": "ORPHA:100054", "HAE 3": "ORPHA:100054", "HAE-III": "ORPHA:100054", "Hereditary angioedema type 3": "ORPHA:100054", "Hereditary angioneurotic edema type 3": "ORPHA:100054", "Inherited estrogen-associated angioedema": "ORPHA:100054", "Inherited estrogen-associated angioneurotic edema": "ORPHA:100054", "Inherited estrogen-dependent angioedema": "ORPHA:100054", "Inherited estrogen-dependent angioneurotic edema": "ORPHA:100054", "Hereditary angioedema type 2": "ORPHA:100051", "HAE 2": "ORPHA:100051", "HAE-II": "ORPHA:100051", "Hereditary angioneurotic edema type 2": "ORPHA:100051", "Renin-angiotensin-aldosterone system-blocker-induced angioedema": "ORPHA:100057", "ACE inhibitor-related acquired angioedema": "ORPHA:100057", "ACEI-related acquired angioedema": "ORPHA:100057", "Acquired angioedema with normal C1 inhibitor": "ORPHA:100057", "Acquired angioedema with normal C1INH": "ORPHA:100057", "RAAS-blocker-induced angioedema": "ORPHA:100057", "RAAS-blocker-induced angioneurotic edema": "ORPHA:100057", "Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema": "ORPHA:100057", "Acquired angioedema type 1": "ORPHA:100056", "Acquired angioneurotic edema type 1": "ORPHA:100056", "Acquired angioedema type 2": "ORPHA:100055", "AAE 2": "ORPHA:100055", "AAE II": "ORPHA:100055", "Acquired angioneurotic edema type 2": "ORPHA:100055", "Semantic dementia": "ORPHA:100069", "Semantic primary progressive aphasia": "ORPHA:100069", "Semantic variant PPA": "ORPHA:100069", "Progressive non-fluent aphasia": "ORPHA:100070", "Agramatic variant of PPA": "ORPHA:100070", "Agramatic variant of primary progressive aphasia": "ORPHA:100070", "Non-fluent variant PPA": "ORPHA:100070", "Waterhouse-Friderichsen syndrome": "ORPHA:100067", "Neurogenic thoracic outlet syndrome": "ORPHA:100073", "NTOS": "ORPHA:100073", "Neurogenic TOS": "ORPHA:100073", "Neurogenic cervical rib syndrome": "ORPHA:100073", "Neurogenic costoclavicular syndrome": "ORPHA:100073", "Neurogenic thoracic outlet compression syndrome": "ORPHA:100073", "Neuroendocrine tumor of stomach": "ORPHA:100075", "GNET": "ORPHA:100075", "Gastric NET": "ORPHA:100075", "Gastric neuroendocrine tumor": "ORPHA:100075", "NET of stomach": "ORPHA:100075", "Mosaic trisomy 3 syndrome": "ORPHA:100071", "Mosaic trisomy chromosome 3": "ORPHA:100071", "Trisomy 3 mosaicism": "ORPHA:100071", "OBSOLETE: True vascular thoracic outlet syndrome": "ORPHA:100072", "Ileal neuroendocrine tumor": "ORPHA:100078", "Ileal neuroendocrine neoplasm": "ORPHA:100078", "Neuroendocrine neoplasm of appendix": "ORPHA:100079", "Appendiceal NEN": "ORPHA:100079", "Appendiceal neuroendocrine neoplasm": "ORPHA:100079", "NEN of appendix": "ORPHA:100079", "Duodenal neuroendocrine tumor": "ORPHA:100076", "Jejunal neuroendocrine tumor": "ORPHA:100077", "Jejunal neuroendocrine neoplasm": "ORPHA:100077", "Neuroendocrine tumor of anal canal": "ORPHA:100082", "NET of anal canal": "ORPHA:100082", "Laryngeal neuroendocrine tumor": "ORPHA:100083", "Neuroendocrine tumor of the colon": "ORPHA:100080", "Colonic NET": "ORPHA:100080", "NET of the colon": "ORPHA:100080", "Neuroendocrine neoplasm of the colon": "ORPHA:100080", "Neuroendocrine tumor of the rectum": "ORPHA:100081", "NET of the rectum": "ORPHA:100081", "Rectal NET": "ORPHA:100081", "Rectal neuroendocrine tumor": "ORPHA:100081", "Combined immunodeficiency with low immunoglobulins": "ORPHA:688571", "CID with low Ig": "ORPHA:688571", "Combined immunodeficiency low Ig": "ORPHA:688571", "Myelodysplastic neoplasm with increased blasts type 2": "ORPHA:100020", "MDS-IB2": "ORPHA:100020", "RAEB-2": "ORPHA:100020", "Refractory anemia with excess blasts type 2": "ORPHA:100020", "Myelodysplastic neoplasm with increased blasts type 1": "ORPHA:100019", "MDS-IB1": "ORPHA:100019", "RAEB-1": "ORPHA:100019", "Refractory anemia with excess blasts type 1": "ORPHA:100019", "Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome": "ORPHA:688581", "MFHIEN": "ORPHA:688581", "Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome": "ORPHA:688581", "Combined immunodeficiency due to RELB deficiency": "ORPHA:688594", "CID due to RELB deficiency": "ORPHA:688594", "Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency": "ORPHA:688594", "Extramedullary soft tissue plasmacytoma": "ORPHA:100022", "Turnpenny-Fry syndrome": "ORPHA:688642", "PCGF2-related disorder": "ORPHA:688642", "TPFS": "ORPHA:688642", "Primary plasmacytoma of the bone": "ORPHA:100021", "Mu-heavy chain disease": "ORPHA:100024", "mu-HCD": "ORPHA:100024", "Isolated adrenal medullary hyperplasia": "ORPHA:688649", "Isolated AMH": "ORPHA:688649", "Gamma-heavy chain disease": "ORPHA:100026", "Franklin disease": "ORPHA:100026", "Gamma-HCD": "ORPHA:100026", "Alpha-heavy chain disease": "ORPHA:100025", "Alpha-HCD": "ORPHA:100025", "IPSID": "ORPHA:100025", "Immunoproliferative small intestinal disease": "ORPHA:100025", "Mediterranean lymphoma": "ORPHA:100025", "Scarlet fever": "ORPHA:688995", "Scarlatina": "ORPHA:688995", "Isolated spontaneous vertebral artery dissection": "ORPHA:689001", "CeAD": "ORPHA:689001", "SCAD": "ORPHA:689001", "Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome": "ORPHA:689021", "Anoctamin-5-related myopathy pseudometabolic phenotype": "ORPHA:689021", "Hypocalcified amelogenesis imperfecta": "ORPHA:100032", "Amelogenesis imperfecta type 3": "ORPHA:100032", "Hypoplastic amelogenesis imperfecta": "ORPHA:100031", "Amelogenesis imperfecta type 1": "ORPHA:100031", "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism": "ORPHA:100034", "Amelogenesis imperfecta type 4": "ORPHA:100034", "Hypomaturation amelogenesis imperfecta": "ORPHA:100033", "Amelogenesis imperfecta type 2": "ORPHA:100033", "IFH1-related hereditary spastic paraplegia": "ORPHA:689231", "Solitary necrotic nodule of the liver": "ORPHA:100035", "Hepatic solitary necrotic nodule": "ORPHA:100035", "RNASEH2B-related hereditary spastic paraplegia": "ORPHA:689234", "Acquired hypothalamic obesity": "ORPHA:689401", "Poirier-Bienvenue neurodevelopmental syndrome": "ORPHA:689397", "Familial pseudohyperkalemia type 1": "ORPHA:100039", "Shashi-Pena syndrome": "ORPHA:689408", "OBSOLETE: Familial pseudohyperkalemia type 2": "ORPHA:100040", "Adenoid ameloblastoma": "ORPHA:689430", "AA": "ORPHA:689430", "OBSOLETE: Familial pseudohyperkalemia, Cardiff type": "ORPHA:100041", "Okur-Chung neurodevelopmental syndrome": "ORPHA:689422", "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A": "ORPHA:100043", "CMTDIA": "ORPHA:100043", "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B": "ORPHA:100044", "CMTDIB": "ORPHA:100044", "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C": "ORPHA:100045", "CMTDIC": "ORPHA:100045", "Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome": "ORPHA:689829", "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D": "ORPHA:100046", "CMTDID": "ORPHA:100046", "Structural heart defects-renal anomalies syndrome": "ORPHA:689822", "SHDRA syndrome": "ORPHA:689822", "Severe congenital heart defects-renal anomalies syndome": "ORPHA:689822", "Esophageal duplication cyst": "ORPHA:100047", "Tubular duplication of the esophagus": "ORPHA:100048", "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies": "ORPHA:100049", "Primary ILD specific to childhood due to pulmonary surfactant protein anomalies": "ORPHA:100049", "Hereditary angioedema type 1": "ORPHA:100050", "HAE 1": "ORPHA:100050", "HAE-I": "ORPHA:100050", "Hereditary angioneurotic edema type 1": "ORPHA:100050", "Lissencephaly with cerebellar hypoplasia type F": "ORPHA:100016", "Lissencephaly with cerebellar hypoplasia type E": "ORPHA:100015", "Mandibuloacral dysplasia associated to MTX2": "ORPHA:647667", "MADaM": "ORPHA:647667", "MDPS": "ORPHA:647667", "Mandibuloacral dysplasia progeroid syndrome": "ORPHA:647667", "Multiple epiphyseal dysplasia type 7": "ORPHA:647676", "CANT1-related multiple epiphyseal dysplasia": "ORPHA:647676", "EDM7": "ORPHA:647676", "MED7": "ORPHA:647676", "Intermediate collagen VI-related muscular dystrophy": "ORPHA:646113", "Intermediate COL6-RD": "ORPHA:646113", "Lissencephaly with cerebellar hypoplasia type B": "ORPHA:100012", "Dysplastic cortical hyperostosis, Al-Gazali type": "ORPHA:646136", "Lissencephaly with cerebellar hypoplasia type A": "ORPHA:100011", "Dysplastic cortical hyperostosis": "ORPHA:646139", "Lissencephaly with cerebellar hypoplasia type D": "ORPHA:100014", "CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome": "ORPHA:646278", "CDK13-related disorder": "ORPHA:646278", "Lissencephaly with cerebellar hypoplasia type C": "ORPHA:100013", "Multifocal tuberculosis": "ORPHA:645854", "ACys amyloidosis": "ORPHA:100008", "CST3-related amyloidosis": "ORPHA:100008", "Cystatin amyloidosis": "ORPHA:100008", "HCHWA, Icelandic type": "ORPHA:100008", "Hereditary cerebral hemorrhage with amyloidosis, Icelandic type": "ORPHA:100008", "Hereditary cystatin C amyloid angiopathy": "ORPHA:100008", "Primary tuberculosis of the digestive system": "ORPHA:645859", "Primary genito-urinary tuberculosis": "ORPHA:645874", "Urogenital tuberculosis": "ORPHA:645874", "Collagen VI-related congenital muscular dystrophy": "ORPHA:646098", "COL6-RD": "ORPHA:646098", "Primary tuberculous lymphadenitis": "ORPHA:645807", "Primary tuberculous lymphadenopathy": "ORPHA:645807", "Primary pulmonary tuberculosis": "ORPHA:645814", "Tuberculosis of respiratory system": "ORPHA:645814", "Intraneural perineurioma": "ORPHA:100003", "Primary bone and joint tuberculosis": "ORPHA:645822", "Primary musculoskeletal tuberculosis": "ORPHA:645822", "ABeta amyloidosis, Dutch type": "ORPHA:100006", "ABetaE22Q amyloidosis": "ORPHA:100006", "HCHWA, Dutch type": "ORPHA:100006", "HCHWA-D": "ORPHA:100006", "Hereditary cerebral hemorrhage with amyloidosis, Dutch type": "ORPHA:100006", "Primary cutaneous tuberculosis": "ORPHA:645849", "Primary skin tuberculosis": "ORPHA:645849", "Congenital esophageal stenosis": "ORPHA:645749", "Congenital oesophageal stenosis": "ORPHA:645749", "Reticular perineurioma": "ORPHA:100000", "Spontaneous intestinal perforation": "ORPHA:645793", "FIP": "ORPHA:645793", "Focal intestinal perforation": "ORPHA:645793", "Isolated perforation": "ORPHA:645793", "Neonatal focal intestinal perforation": "ORPHA:645793", "SIP": "ORPHA:645793", "Sclerosing perineurioma": "ORPHA:100001", "Extraneural perineurioma": "ORPHA:100002", "Soft tissue perineurioma": "ORPHA:100002", "Amyopathic dermatomyositis": "ORPHA:645617", "Dermatomyositis sine myositis": "ORPHA:645617", "Complex regional pain syndrome type 1": "ORPHA:99995", "Algodystrophy": "ORPHA:99995", "Reflex sympathetic dystrophy": "ORPHA:99995", "Classical dermatomyositis": "ORPHA:645613", "Adermatopathic dermatomyositis": "ORPHA:645626", "Dermatomyositis sine dermatitis": "ORPHA:645626", "Hemi-myeloschisis": "ORPHA:645393", "Split cord malformation associated with myeloschisis": "ORPHA:645393", "Relapsing epidemic typhus": "ORPHA:99991", "Hemi-myelomeningocele": "ORPHA:645388", "Open split-cord malformation": "ORPHA:645388", "True myeloschisis": "ORPHA:645401", "Myeloschisis": "ORPHA:645398", "Complex regional pain syndrome type 2": "ORPHA:99994", "Causalgia": "ORPHA:99994", "Conus spinal cord lipoma": "ORPHA:645367", "OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome": "ORPHA:99987", "Dorsal spinal cord lipoma": "ORPHA:645362", "Conus sparing spinal cord lipoma": "ORPHA:645362", "True myelomeningocele": "ORPHA:645383", "True MMC": "ORPHA:645383", "Intermediate DEND syndrome": "ORPHA:99989", "Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form": "ORPHA:99989", "Myelic limited dorsal malformation": "ORPHA:645378", "MyeLDM": "ORPHA:645378", "Brill-Zinsser disease": "ORPHA:99990", "Brill disease": "ORPHA:99990", "Recrudescent typhus": "ORPHA:99990", "Saccular limited dorsal myeloschisis": "ORPHA:645354", "Saccular LDM": "ORPHA:645354", "OBSOLETE: Familial restrictive cardiomyopathy type 2": "ORPHA:99986", "Intramedullary non-dysraphic spinal cord lipoma": "ORPHA:645359", "OBSOLETE: Familial restrictive cardiomyopathy type 1": "ORPHA:99985", "Non-saccular limited dorsal myeloschisis": "ORPHA:645343", "Flat LDM": "ORPHA:645343", "Non-saccular LDM": "ORPHA:645343", "Segmental arterial mediolysis": "ORPHA:645350", "Cutaneous myiasis": "ORPHA:99983", "Terminal myelocystocele": "ORPHA:645337", "Non-terminal myelocystocele": "ORPHA:645340", "Apnea of prematurity": "ORPHA:99981", "Isolated filum lipoma": "ORPHA:645325", "Lipoma of the filum terminale": "ORPHA:645325", "Retained medullary cord": "ORPHA:645334", "Saccular spinal dysraphism with a stalk to the dome": "ORPHA:645319", "Klatskin tumor": "ORPHA:99978", "Hilar CCA": "ORPHA:99978", "Hilar cholangiocarcinoma": "ORPHA:99978", "Isolated transitional filum lipoma": "ORPHA:645322", "Squamous cell carcinoma of the esophagus": "ORPHA:99977", "ESCC": "ORPHA:99977", "Esophageal epidermoid carcinoma": "ORPHA:99977", "Esophageal squamous cell carcinoma": "ORPHA:99977", "Lipomatous non-saccular limited dorsal myeloschisis": "ORPHA:645300", "Lipomatous flat LDM": "ORPHA:645300", "Lipomatous flat limited dorsal myeloschisis": "ORPHA:645300", "Lipomatous non-saccular LDM": "ORPHA:645300", "Adenocarcinoma of the esophagus": "ORPHA:99976", "Esophageal adenocarcinoma": "ORPHA:99976", "Fibroneural non-saccular limited dorsal myeloschisis": "ORPHA:645310", "Fibroneural flat LDM": "ORPHA:645310", "Fibroneural flat limited dorsal myeloschisis": "ORPHA:645310", "Fibroneural non-saccular LDM": "ORPHA:645310", "Posterior extramedullary conus spinal cord lipoma": "ORPHA:645294", "OBSOLETE: TACI-related selective deficiency of IgA": "ORPHA:99974", "Extramedullary conus spinal cord lipoma": "ORPHA:645297", "OBSOLETE: Immunoglobulin A2 deficiency": "ORPHA:99973", "OBSOLETE: IgA2 deficiency": "ORPHA:99973", "Terminal extramedullary conus spinal cord lipoma": "ORPHA:645288", "OBSOLETE: Immunoglobulin A1 deficiency": "ORPHA:99972", "OBSOLETE: IgA1 deficiency": "ORPHA:99972", "Transitional extramedullary conus spinal cord lipoma": "ORPHA:645291", "Well-differentiated liposarcoma": "ORPHA:99971", "ALT": "ORPHA:99971", "Atypical lipoma": "ORPHA:99971", "Atypical lipomatous tumor": "ORPHA:99971", "WDLS": "ORPHA:99971", "Chaotic conus spinal cord lipoma": "ORPHA:645285", "Pleomorphic liposarcoma": "ORPHA:99969", "Anomaly of the filum": "ORPHA:645282", "Dedifferentiated liposarcoma": "ORPHA:99970", "DDLS": "ORPHA:99970", "Fibrolipomatous filum anomaly": "ORPHA:645279", "Myxoid/round cell liposarcoma": "ORPHA:99967", "MRCLS": "ORPHA:99967", "Spinal cord lipoma": "ORPHA:645276", "Dysraphic spinal cord lipoma": "ORPHA:645273", "O'Sullivan-McLeod syndrome": "ORPHA:99965", "Open spinal dysraphism with a posterior meningocele": "ORPHA:645270", "Atypical teratoid rhabdoid tumor": "ORPHA:99966", "ATRT": "ORPHA:99966", "Closed spinal dysraphism": "ORPHA:645202", "Closed spina bifida": "ORPHA:645202", "Occult spina bifida": "ORPHA:645202", "Spina bifida occulta": "ORPHA:645202", "Limited dorsal myeloschisis": "ORPHA:645196", "LDM": "ORPHA:645196", "Benign recurrent intrahepatic cholestasis type 2": "ORPHA:99961", "BRIC type 2": "ORPHA:99961", "BRIC2": "ORPHA:99961", "Dysraphism with stalk": "ORPHA:645193", "Spinal dermal sinus": "ORPHA:645188", "Dermal sinus tract": "ORPHA:645188", "Benign recurrent intrahepatic cholestasis type 1": "ORPHA:99960", "BRIC type 1": "ORPHA:99960", "BRIC1": "ORPHA:99960", "Hao-Fountain syndrome": "ORPHA:643549", "HAFOUS": "ORPHA:643549", "Hao-Fountain syndrome due to USP7 mutation": "ORPHA:643538", "HAFOUS due to USP7 mutation": "ORPHA:643538", "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome": "ORPHA:643503", "Charcot-Marie-Tooth disease type 4B1": "ORPHA:99955", "CMT4B1": "ORPHA:99955", "Charcot-Marie-Tooth disease type 4B2": "ORPHA:99956", "CMT4B2": "ORPHA:99956", "Charcot-Marie-Tooth disease type 4A": "ORPHA:99948", "CMT4A": "ORPHA:99948", "Autosomal dominant Charcot-Marie-Tooth disease type 2A2": "ORPHA:99947", "CMT2A2": "ORPHA:99947", "Charcot-Marie-Tooth disease type 4D": "ORPHA:99950", "CMT4D": "ORPHA:99950", "HMSN, Lom type": "ORPHA:99950", "HMSN-Lom": "ORPHA:99950", "Hereditary motor and sensory neuropathy, Lom type": "ORPHA:99950", "Central precocious puberty in male": "ORPHA:649929", "CPP in boy": "ORPHA:649929", "CPP in male": "ORPHA:649929", "Central precocious puberty in boy": "ORPHA:649929", "Charcot-Marie-Tooth disease type 4C": "ORPHA:99949", "CMT4C": "ORPHA:99949", "Charcot-Marie-Tooth disease type 4F": "ORPHA:99952", "CMT4F": "ORPHA:99952", "Charcot-Marie-Tooth disease type 4E": "ORPHA:99951", "Autosomal recessive congenital hypomyelinating neuropathy": "ORPHA:99951", "CMT4E": "ORPHA:99951", "Charcot-Marie-Tooth disease type 4H": "ORPHA:99954", "CMT4H": "ORPHA:99954", "Charcot-Marie-Tooth disease type 4G": "ORPHA:99953", "CMT4G": "ORPHA:99953", "HMSNR": "ORPHA:99953", "Hereditary motor and sensory neuropathy, Russe Type": "ORPHA:99953", "Non-syndromic bridging bronchus": "ORPHA:648992", "Autosomal dominant Charcot-Marie-Tooth disease type 2F": "ORPHA:99940", "CMT2F": "ORPHA:99940", "Autosomal dominant Charcot-Marie-Tooth disease type 2E": "ORPHA:99939", "CMT2E": "ORPHA:99939", "Non-syndromic congenital bronchial atresia": "ORPHA:649010", "Non-syndromic CBA": "ORPHA:649010", "Autosomal dominant Charcot-Marie-Tooth disease type 2I": "ORPHA:99942", "CMT2I": "ORPHA:99942", "Bronchial malformation": "ORPHA:649014", "Autosomal dominant Charcot-Marie-Tooth disease type 2G": "ORPHA:99941", "CMT2G": "ORPHA:99941", "Rare adrenocortical nodular disease": "ORPHA:649017", "Autosomal dominant Charcot-Marie-Tooth disease type 2K": "ORPHA:99944", "CMT2K": "ORPHA:99944", "Isolated left bronchial isomerism": "ORPHA:649029", "Left bronchial isomerism without heterotaxy": "ORPHA:649029", "Autosomal dominant Charcot-Marie-Tooth disease type 2J": "ORPHA:99943", "CMT2J": "ORPHA:99943", "Autosomal dominant Charcot-Marie-Tooth disease type 2A1": "ORPHA:99946", "CMT2A1": "ORPHA:99946", "Autosomal dominant Charcot-Marie-Tooth disease type 2L": "ORPHA:99945", "CMT2L": "ORPHA:99945", "Idiopathic pulmonary hemosiderosis": "ORPHA:99931", "Central retinal artery occlusion": "ORPHA:648684", "CRAO": "ORPHA:648684", "Heiner syndrome": "ORPHA:99932", "Cow's milk hypersensitivity": "ORPHA:99932", "Idiopathic catatonia": "ORPHA:648919", "Idiopathic catatonic syndrome": "ORPHA:648919", "Isolated catatonia": "ORPHA:648919", "Isolated catatonic syndrome": "ORPHA:648919", "Pleuropulmonary blastoma type 1": "ORPHA:99933", "Pleuropulmonary blastoma type 2": "ORPHA:99934", "Pleuropulmonary blastoma type 3": "ORPHA:99935", "Autosomal dominant Charcot-Marie-Tooth disease type 2B": "ORPHA:99936", "CMT2B": "ORPHA:99936", "Autosomal dominant Charcot-Marie-Tooth disease type 2C": "ORPHA:99937", "CMT2C": "ORPHA:99937", "Autosomal dominant Charcot-Marie-Tooth disease type 2D": "ORPHA:99938", "CMT2D": "ORPHA:99938", "Ferroportin disease": "ORPHA:648562", "Rare scleritis": "ORPHA:648559", "Digenic hemochromatosis": "ORPHA:648581", "Invasive mole": "ORPHA:99925", "Non-HFE-related hemochromatosis": "ORPHA:648569", "Gestational choriocarcinoma": "ORPHA:99926", "Infectious scleritis": "ORPHA:648665", "Hydatidiform mole": "ORPHA:99927", "Molar pregnancy": "ORPHA:99927", "Placental site trophoblastic tumor": "ORPHA:99928", "PSST": "ORPHA:99928", "Immune-mediated scleritis": "ORPHA:648681", "Idiopathic scleritis": "ORPHA:648675", "Secondary pulmonary hemosiderosis": "ORPHA:99930", "Streptococcal toxic-shock syndrome": "ORPHA:99918", "Streptococcal TSS": "ORPHA:99918", "Theca steroid-producing cell malignant tumor of ovary, not further specified": "ORPHA:99917", "Theca (steroid-producing) cell cancer, not further specified": "ORPHA:99917", "Malignant Sertoli-Leydig cell tumor of the ovary": "ORPHA:99916", "Androblastoma": "ORPHA:99916", "Arrhenoblastoma": "ORPHA:99916", "Ovarian Sertoli-Leydig cell cancer": "ORPHA:99916", "Ovarian malignant Sertoli-Leydig cell tumor": "ORPHA:99916", "Virilizing ovarian tumor": "ORPHA:99916", "Malignant granulosa cell tumor of the ovary": "ORPHA:99915", "Granulosa cell cancer": "ORPHA:99915", "Granulosa cell malignant tumor": "ORPHA:99915", "Ocular cicatricial pemphigoid": "ORPHA:99922", "Chronic graft versus host disease": "ORPHA:99921", "Acute graft versus host disease": "ORPHA:99920", "Staphylococcal toxic-shock syndrome": "ORPHA:99919", "Staphylococcal TSS": "ORPHA:99919", "OBSOLETE: Occupational allergic alveolitis": "ORPHA:99909", "OBSOLETE: Pigeon-breeder lung disease": "ORPHA:99908", "OBSOLETE: Bird fancier lung": "ORPHA:99908", "OBSOLETE: House allergic alveolitis": "ORPHA:99907", "Gynandroblastoma": "ORPHA:99914", "Extragonadal non-dysgerminomatous germ cell tumor": "ORPHA:99913", "Ovarian dysgerminoma": "ORPHA:99912", "Dysgerminoma of ovary": "ORPHA:99912", "Dysgerminomatous germ cell cancer of the ovary": "ORPHA:99912", "Keratitis fugax hereditaria": "ORPHA:647815", "KFH": "ORPHA:647815", "Keratoendotheliitis fugax hereditaria": "ORPHA:647815", "Acyl-CoA dehydrogenase 9 deficiency": "ORPHA:99901", "ACAD9 deficiency": "ORPHA:99901", "Cardiac-urogenital syndrome": "ORPHA:647811", "MYRF-related cardiac urogenital syndrome": "ORPHA:647811", "Combined immunodeficiency due to FCHO1 deficiency": "ORPHA:647804", "Long chain acyl-CoA dehydrogenase deficiency": "ORPHA:99900", "LCAD": "ORPHA:99900", "Conjoined twins": "ORPHA:647916", "Siamese twins": "ORPHA:647916", "Streptobacillary rat-bite fever": "ORPHA:99905", "OBSOLETE: Farmer's lung disease": "ORPHA:99906", "SLC40A1-related hemochromatosis": "ORPHA:647834", "Spirillary rat-bite fever": "ORPHA:99903", "Sodoku": "ORPHA:99903", "Idiopathic pregnancy-associated osteoporosis": "ORPHA:647823", "Idiopathic premenopausal osteoporosis associated with pregnancy": "ORPHA:647823", "Osteoporosis of pregnancy": "ORPHA:647823", "PAO": "ORPHA:647823", "PLO": "ORPHA:647823", "Pregnancy and lactation-associated osteoporosis": "ORPHA:647823", "Pregnancy induced osteoporosis": "ORPHA:647823", "Isolated primary pigmented nodular adrenocortical disease": "ORPHA:647772", "Isolated PPNAD": "ORPHA:647772", "i-PPNAD": "ORPHA:647772", "OBSOLETE: ACTH-independent Cushing syndrome": "ORPHA:99893", "OBSOLETE: Adrenal Cushing syndrome": "ORPHA:99893", "OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome": "ORPHA:99893", "OBSOLETE: Corticotropin-independent Cushing syndrome": "ORPHA:99893", "Rare adrenocortical nodular disease with Cushing syndrome as a major feature": "ORPHA:647768", "Adrenal Cushing syndrome": "ORPHA:647758", "Adrenal CS": "ORPHA:647758", "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome": "ORPHA:647681", "ERF-related syndromic craniosynostosis": "ORPHA:647681", "ACTH-dependent Cushing syndrome": "ORPHA:99892", "ACTH-dependent CS": "ORPHA:99892", "Adrenocorticotropic hormone-dependent Cushing syndrome": "ORPHA:99892", "Corticotropin-dependent Cushing syndrome": "ORPHA:99892", "MYT1L-related developmental delay-intellectual disability-obesity syndrome": "ORPHA:647799", "MYT1L-associated neurodevelopmental disorder": "ORPHA:647799", "Isolated persistent urogenital sinus": "ORPHA:647794", "Isolated PUGS": "ORPHA:647794", "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency": "ORPHA:99898", "MSMD due to complete IFNgammaR1 deficiency": "ORPHA:99898", "MSMD due to complete interferon gamma receptor 1 deficiency": "ORPHA:99898", "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency": "ORPHA:99898", "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome": "ORPHA:647788", "DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome": "ORPHA:647788", "DHX30-related neurodevelopmental disorder": "ORPHA:647788", "Isolated micronodular adrenocortical disease": "ORPHA:647782", "i-MAD": "ORPHA:647782", "Familial isolated hyperparathyroidism": "ORPHA:99879", "FIHPT": "ORPHA:99879", "Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency": "ORPHA:656283", "AR CID due to complete GP130 deficiency": "ORPHA:656283", "AR CID due to complete IL6ST deficiency": "ORPHA:656283", "Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency": "ORPHA:656283", "Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency": "ORPHA:656283", "St\u00fcve-Wiedemann syndrome type 2": "ORPHA:656283", "1p36.33 duplication syndrome": "ORPHA:656279", "Hyperparathyroidism-jaw tumor syndrome": "ORPHA:99880", "HPT-JT": "ORPHA:99880", "Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency": "ORPHA:656313", "AD CID due to partial GP130 deficiency": "ORPHA:656313", "AD CID due to partial IL6ST deficiency": "ORPHA:656313", "Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency": "ORPHA:656313", "Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency": "ORPHA:656313", "Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency": "ORPHA:656300", "AR CID due to partial GP130 deficiency": "ORPHA:656300", "AR CID due to partial IL6ST deficiency": "ORPHA:656300", "Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency": "ORPHA:656300", "Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency": "ORPHA:656300", "OBSOLETE: Ehlers-Danlos syndrome type 7A": "ORPHA:99875", "OBSOLETE: EDS VIIA": "ORPHA:99875", "PBX1-related congenital anomalies of kidney and urinary tract syndrome": "ORPHA:656130", "PBX1-related syndromic CAKUT": "ORPHA:656130", "OBSOLETE: Ehlers-Danlos syndrome type 7B": "ORPHA:99876", "OBSOLETE: EDS VIIB": "ORPHA:99876", "Segmental spinal dysgenesis": "ORPHA:656126", "SSD": "ORPHA:656126", "OBSOLETE: Familial parathyroid adenoma": "ORPHA:99877", "OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome": "ORPHA:656273", "OBSOLETE: Primary parathyroid hyperplasia": "ORPHA:99878", "OBSOLETE: Familial parathyroid hyperplasia": "ORPHA:99878", "OBSOLETE: Hereditary parathyroid hyperplasia": "ORPHA:99878", "Intellectual disability-cupped ears syndrome": "ORPHA:656135", "Snijders Blok-Fisher syndrome": "ORPHA:656135", "Acute megakaryoblastic leukemia in children with Down syndrome": "ORPHA:99887", "Acute megakaryoblastic leukemia in children with trisomy 21": "ORPHA:99887", "DS-AMKL in children with Down syndrome": "ORPHA:99887", "DS-AMKL in children with trisomy 21": "ORPHA:99887", "16q22 deletion syndrome": "ORPHA:658540", "NON RARE IN EUROPE: Adrenocortical adenoma": "ORPHA:99888", "Autosomal dominant combined immunodeficiency due to ERBIN deficiency": "ORPHA:656912", "AD-CID due to ERBIN deficiency": "ORPHA:656912", "Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency": "ORPHA:656912", "Cushing syndrome due to ectopic ACTH secretion": "ORPHA:99889", "Adrenocorticotropic hormone secretion syndrome": "ORPHA:99889", "Ectopic ACTH secreting tumor": "ORPHA:99889", "Ectopic Cushing syndrome": "ORPHA:99889", "Occult ectopic ACTH secretion": "ORPHA:99889", "Paraneoplastic Cushing syndrome": "ORPHA:99889", "Idiopathic small fibers neuropathy": "ORPHA:658549", "Idiopathic-SFN": "ORPHA:658549", "Embryonal tumor with multilayered rosettes": "ORPHA:656417", "ETMR": "ORPHA:656417", "Autosomal recessive combined immunodeficiency due to IL6R deficiency": "ORPHA:656326", "AR CID due to IL6R deficiency": "ORPHA:656326", "Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency": "ORPHA:656326", "Isolated permanent neonatal diabetes mellitus": "ORPHA:99885", "Isolated PNDM": "ORPHA:99885", "Transient neonatal diabetes mellitus": "ORPHA:99886", "TNDM": "ORPHA:99886", "OBSOLETE: Classic seminoma": "ORPHA:99864", "CHD4-related neurodevelopmental disorder": "ORPHA:653712", "CHD4-related neurodevelopmental syndrome": "ORPHA:653712", "Sifrim-Hitz-Weiss syndrome": "ORPHA:653712", "Digenic Alport syndrome": "ORPHA:653722", "OBSOLETE: Metastatic spermatocytic seminoma": "ORPHA:99866", "Autosomal recessive limb-girdle muscular dystrophy, type 28": "ORPHA:653725", "LGMD, type 28": "ORPHA:653725", "LGMDR28": "ORPHA:653725", "Limb-girdle, type 28R": "ORPHA:653725", "Spermatocytic seminoma": "ORPHA:99865", "Congenital insensitivity to pain syndrome, Marsili type": "ORPHA:653728", "Marsili syndrome": "ORPHA:653728", "Precursor B-cell acute lymphoblastic leukemia": "ORPHA:99860", "B-ALL": "ORPHA:99860", "Precursor B-cell acute lymphoblastic leukemia/lymphoma": "ORPHA:99860", "Precursor B-cell acute lymphocytic leukemia": "ORPHA:99860", "Precursor B-cell acute lymphocytic leukemia/lymphoma": "ORPHA:99860", "OBSOLETE: Posttraumatic syringomyelia": "ORPHA:99859", "Autoinflammatory syndrome with acne and/or hidradenitis suppurativa": "ORPHA:653434", "Lymphocytic mastitis": "ORPHA:653698", "Lymphocytic mastopathy": "ORPHA:653698", "Sclerosing lymphocytic lobulitis": "ORPHA:653698", "Precursor T-cell acute lymphoblastic leukemia": "ORPHA:99861", "Precursor T-cell acute lymphoblastic leukemia/lymphoma": "ORPHA:99861", "Precursor T-cell acute lymphocytic leukemia": "ORPHA:99861", "Precursor T-cell acute lymphocytic leukemia/lymphoma": "ORPHA:99861", "T-ALL": "ORPHA:99861", "Cone rod dystrophy-short stature syndrome": "ORPHA:653709", "OBSOLETE: Hashimoto-Pritzker syndrome": "ORPHA:99872", "OBSOLETE: Congenital Langerhans cell histiocytosis": "ORPHA:99872", "OBSOLETE: Eosinophilic granuloma": "ORPHA:99871", "OBSOLETE: Chronic and localized Langerhans cell histiocytosis": "ORPHA:99871", "OBSOLETE: Adult pulmonary Langerhans cell histiocytosis": "ORPHA:99874", "OBSOLETE: Pulmonary histiocytosis X": "ORPHA:99874", "Atrophic papulosis": "ORPHA:656071", "Degos disease": "ORPHA:656071", "K\u00f6hlmeier-Degos disease": "ORPHA:656071", "Benign atrophic papulosis": "ORPHA:656085", "BAP": "ORPHA:656085", "OBSOLETE: Hand-Sch\u00fcller-Christian disease": "ORPHA:99873", "OBSOLETE: Chronic multifocal Langerhans cell histiocytosis": "ORPHA:99873", "OBSOLETE: Multifocal eosinophilic granuloma": "ORPHA:99873", "Thymic carcinoma": "ORPHA:99868", "Malignant thymoma": "ORPHA:99868", "X-linked combined immunodeficiency due to SASH3 deficiency": "ORPHA:653751", "X-linked CID due to SASH3 deficiency": "ORPHA:653751", "Thymoma": "ORPHA:99867", "Primary thymic epithelial neoplasm": "ORPHA:99867", "Primary thymic epithelial tumor": "ORPHA:99867", "Jansen-de Vries syndrome": "ORPHA:653767", "Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome": "ORPHA:653767", "JDVS": "ORPHA:653767", "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency": "ORPHA:653880", "Crotonase deficiency": "ORPHA:653880", "ECHS1D": "ORPHA:653880", "OBSOLETE: Letterer-Siwe disease": "ORPHA:99870", "OBSOLETE: Acute and disseminated Langerhans cell histiocytosis": "ORPHA:99870", "Thymic neuroendocrine carcinoma": "ORPHA:99869", "Cleft palate-congenital heart defect-intellectual disability syndrome": "ORPHA:652519", "Glycogen storage disease due to muscle beta-enolase deficiency": "ORPHA:99849", "GSD due to muscle beta-enolase deficiency": "ORPHA:99849", "GSDXIII": "ORPHA:99849", "Glycogenosis due to muscle beta-enolase deficiency": "ORPHA:99849", "Glycogenosis type 13": "ORPHA:99849", "Muscle enolase deficiency": "ORPHA:99849", "Muscular enolase deficiency": "ORPHA:99849", "Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation": "ORPHA:652514", "Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa": "ORPHA:652510", "Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome": "ORPHA:652487", "Genetic recurrent myoglobinuria": "ORPHA:99845", "Rare peripheral precocious puberty in female": "ORPHA:650187", "Autosomal dominant myoglobinuria": "ORPHA:99846", "Genetic central precocious puberty": "ORPHA:650182", "Genetic CPP": "ORPHA:650182", "Leukocyte adhesion deficiency type II": "ORPHA:99843", "CDG syndrome type IIc": "ORPHA:99843", "CDG-IIc": "ORPHA:99843", "CDG2C": "ORPHA:99843", "LAD-II": "ORPHA:99843", "Rambam-Hasharon syndrome": "ORPHA:99843", "SLC35C1-CDG": "ORPHA:99843", "Non-genetic central precocious puberty in male": "ORPHA:650102", "Non-genetic CPP in boy": "ORPHA:650102", "Non-genetic CPP in male": "ORPHA:650102", "Non-genetic central precocious puberty in boy": "ORPHA:650102", "Leukocyte adhesion deficiency type III": "ORPHA:99844", "LAD-1 variant": "ORPHA:99844", "LAD-III": "ORPHA:99844", "Leukocyte adhesion deficiency-1 variant": "ORPHA:99844", "Secondary syringomyelia": "ORPHA:99857", "Idiopathic subglottic stenosis": "ORPHA:652681", "iSGS": "ORPHA:652681", "Primary inferior vena cava aneurysm": "ORPHA:652678", "Idiopathic syringomyelia": "ORPHA:99858", "Primary superior vena cava aneurysm": "ORPHA:652668", "SVCA": "ORPHA:652668", "Primary syringomyelia": "ORPHA:99856", "Congenital syringomyelia": "ORPHA:99856", "Monomorphic epitheliotropic intestinal T-cell lymphoma": "ORPHA:652658", "Enteropathy-associated T-cell lymphoma type 2": "ORPHA:652658", "MEITL": "ORPHA:652658", "Ovarioleukodystrophy": "ORPHA:99853", "Nodal T-follicular helper cell lymphoma, follicular type": "ORPHA:652650", "Follicular T-cell Lymphoma": "ORPHA:652650", "Follicular helper T-cell lymphoma, follicular type": "ORPHA:652650", "Nodal T-cell lymphoma with TFH phenotype": "ORPHA:652650", "Nodal TFH lymphoma, follicular type": "ORPHA:652650", "nTFHL-F": "ORPHA:652650", "Adult-onset progressive leukoencephalopathy-early-onset deafness": "ORPHA:652532", "Adult-onset progressive leukoencephalopathy-early-onset hearing loss": "ORPHA:652532", "Cree leukoencephalopathy": "ORPHA:99854", "Non-syndromic supernumerary kidneys": "ORPHA:652528", "Non-syndromic accessory kidneys": "ORPHA:652528", "Non-syndromic accessory kydney": "ORPHA:652528", "Non-syndromic supernumerary kidney": "ORPHA:652528", "Ravine syndrome": "ORPHA:99852", "Progressive encephalopathy with severe infantile anorexia": "ORPHA:99852", "Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome": "ORPHA:99852", "Periodic fever-immunodeficiency-thrombocytopenia syndrome": "ORPHA:652522", "PFITS": "ORPHA:652522", "Resistance to thyrotropin-releasing hormone syndrome": "ORPHA:99832", "Central hypothyroidism due to TRH receptor deficiency": "ORPHA:99832", "TRH resistance syndrome": "ORPHA:99832", "OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect": "ORPHA:99831", "OBSOLETE: CVID due to an intrinsic T cell defect": "ORPHA:99831", "Yellow fever": "ORPHA:99829", "Bronze John": "ORPHA:99829", "YF": "ORPHA:99829", "Yellow Jack": "ORPHA:99829", "Dengue fever": "ORPHA:99828", "DF": "ORPHA:99828", "Dengue virus infection": "ORPHA:99828", "Crimean-Congo hemorrhagic fever": "ORPHA:99827", "CCHF": "ORPHA:99827", "Congo fever": "ORPHA:99827", "Congo hemorrhagic fever": "ORPHA:99827", "Crimean hemorrhagic fever": "ORPHA:99827", "Secondary central precocious puberty in male": "ORPHA:650092", "Secondary CPP in boy": "ORPHA:650092", "Secondary CPP in male": "ORPHA:650092", "Secondary central precocious puberty in boy": "ORPHA:650092", "Leukocyte adhesion deficiency type I": "ORPHA:99842", "LAD-I": "ORPHA:99842", "Genetic central precocious puberty in male": "ORPHA:650097", "Genetic CPP in boy": "ORPHA:650097", "Genetic CPP in male": "ORPHA:650097", "Genetic central precocious puberty in boy": "ORPHA:650097", "Secondary central precocious puberty in female": "ORPHA:650082", "Secondary CPP in female": "ORPHA:650082", "Secondary CPP in girl": "ORPHA:650082", "Secondary central precocious puberty in girl": "ORPHA:650082", "Primary central precocious puberty in male": "ORPHA:650087", "Primary CPP in boy": "ORPHA:650087", "Primary CPP in male": "ORPHA:650087", "Primary central precocious puberty in boy": "ORPHA:650087", "Rare central precocious puberty in female": "ORPHA:650070", "Rare CPP in female": "ORPHA:650070", "Rare central precocious puberty in girl": "ORPHA:650070", "Genetic central precocious puberty in female": "ORPHA:650077", "Genetic CPP in female": "ORPHA:650077", "Genetic CPP in girl": "ORPHA:650077", "Genetic central precocious puberty in girl": "ORPHA:650077", "Rare central precocious puberty": "ORPHA:650063", "Gonadotropin-dependant precocious puberty": "ORPHA:650063", "Rare CPP": "ORPHA:650063", "Neuronal intestinal pseudoobstruction": "ORPHA:99811", "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome": "ORPHA:660017", "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation": "ORPHA:660012", "NR4A2-related neurodevelopmental syndrome": "ORPHA:660012", "LIG4 syndrome": "ORPHA:99812", "DNA ligase IV deficiency": "ORPHA:99812", "Ligase 4 syndrome": "ORPHA:99812", "Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome": "ORPHA:660021", "AMOTL1-related syndrome": "ORPHA:660021", "Psittacosis": "ORPHA:660053", "Ornithosis": "ORPHA:660053", "Parrot disease": "ORPHA:660053", "Parrot fever": "ORPHA:660053", "MBD4-related tumor predisposition syndrome": "ORPHA:661526", "Non-polyposis Turcot syndrome": "ORPHA:99817", "Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency": "ORPHA:661412", "Turcot syndrome with polyposis": "ORPHA:99818", "Phelan-McDermid syndrome due to SHANK3 mutation": "ORPHA:662172", "Familial gestational hyperthyroidism": "ORPHA:99819", "Phelan-McDermid syndrome due to 22q13.3 deletion": "ORPHA:662169", "22q13.3 deletion": "ORPHA:662169", "Chromosome 22q13.3 deletion syndrome": "ORPHA:662169", "Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome": "ORPHA:662179", "Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome": "ORPHA:662179", "Nabais Sa-de Vries type 1 syndrome": "ORPHA:662179", "Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome": "ORPHA:662175", "Nabais Sa-de Vries type 2 syndrome": "ORPHA:662175", "Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome": "ORPHA:662189", "HNRNPR-related neurodevelopmental disorder": "ORPHA:662189", "Congenital muscular dystrophy-cataract-intellectual disability syndrome": "ORPHA:662184", "INPP5K-related syndrome": "ORPHA:662184", "Lassa fever": "ORPHA:99824", "LF": "ORPHA:99824", "Lassa hemorrhagic fever": "ORPHA:99824", "Neurodevelopmental delay-intellectual disability-skeletal defects syndrome": "ORPHA:662198", "HNRNPH2-Related Neurodevelopmental Disorder": "ORPHA:662198", "Nipah virus disease": "ORPHA:99825", "Nipah encephalitis": "ORPHA:99825", "Nipah fever": "ORPHA:99825", "Marburg hemorrhagic fever": "ORPHA:99826", "Green monkey disease": "ORPHA:99826", "MHF": "ORPHA:99826", "Marburg virus disease": "ORPHA:99826", "Yersinia pseudotuberculosis infection": "ORPHA:659707", "Y. pseudotuberculosis infection": "ORPHA:659707", "Subcortical band heterotopia": "ORPHA:99796", "Subcortical laminar heterotopia": "ORPHA:99796", "Rare yersiniosis": "ORPHA:659712", "Oligodontia": "ORPHA:99798", "Selective tooth agenesis": "ORPHA:99798", "Anodontia": "ORPHA:99797", "Ocular surface squamous neoplasia": "ORPHA:659744", "OSSN": "ORPHA:659744", "Oroya fever": "ORPHA:659756", "Verruga peruana": "ORPHA:659759", "Peruvian warts": "ORPHA:659759", "Hemimegalencephaly": "ORPHA:99802", "Unilateral megalencephaly": "ORPHA:99802", "Wormian bones-micrognathia-abnormal dentition-progeroid syndrome": "ORPHA:659873", "LEMD2-associated nuclear envelopathy with early progeroid appearance": "ORPHA:659873", "Marbach-Rustad progeroid syndrome": "ORPHA:659873", "Haddad syndrome": "ORPHA:99803", "Congenital central alveolar hypoventilation-Hirschsprung disease syndrome": "ORPHA:99803", "Ondine-Hirschsprung disease": "ORPHA:99803", "Ondine-Hirschsprung syndrome": "ORPHA:99803", "Oculootodental syndrome": "ORPHA:99806", "OOD": "ORPHA:99806", "Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome": "ORPHA:659904", "PRR12-related neuroocular syndrome": "ORPHA:659904", "PEHO-like syndrome": "ORPHA:99807", "Glanders": "ORPHA:659908", "Burkholderia mallei infection": "ORPHA:659908", "Equinia": "ORPHA:659908", "Malleus": "ORPHA:659908", "Familial porencephaly": "ORPHA:99810", "Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome": "ORPHA:659975", "Neurodevelopmental disorder with hearing loss and spastic quadriplegia": "ORPHA:659975", "Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome": "ORPHA:659975", "Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome": "ORPHA:659975", "Cohen-Gibson syndrome": "ORPHA:659396", "EED-related overgrowth syndrome": "ORPHA:659396", "OBSOLETE: Familial articular chondrocalcinosis type 1": "ORPHA:99781", "OBSOLETE: CCAL1": "ORPHA:99781", "OBSOLETE: Familial articular chondrocalcinosis type 2": "ORPHA:99782", "OBSOLETE: CCAL2": "ORPHA:99782", "PRC-2 complex-related overgrowth spectrum": "ORPHA:659387", "Early-onset immune dysregulation due to DOCK11 complete deficiency": "ORPHA:658951", "Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency": "ORPHA:658951", "Single isolated optic neuritis": "ORPHA:659626", "Isolated single optic neuritis": "ORPHA:659626", "SION": "ORPHA:659626", "Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome": "ORPHA:659609", "RAC3-related syndrome": "ORPHA:659609", "Imagawa-Matsumoto syndrome": "ORPHA:659463", "SUZ12-related overgrowth syndrome": "ORPHA:659463", "Harderoporphyria": "ORPHA:659672", "Dentin dysplasia type I": "ORPHA:99789", "DD-I": "ORPHA:99789", "DTDP1": "ORPHA:99789", "Radicular dentin dysplasia": "ORPHA:99789", "Rauch-Steindl syndrome": "ORPHA:659642", "NSD2-related syndrome": "ORPHA:659642", "Relapsing isolated optic neuritis": "ORPHA:659634", "Isolated relapsing optic neuritis": "ORPHA:659634", "Isolated relapsing optic neuropathy": "ORPHA:659634", "RION": "ORPHA:659634", "Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome": "ORPHA:659702", "ARCN1-related syndrome": "ORPHA:659702", "Hepatic cutaneous porphyria": "ORPHA:659698", "Hepatic porphyria": "ORPHA:659694", "Dentin dysplasia type II": "ORPHA:99791", "DD-II": "ORPHA:99791", "DTDP2": "ORPHA:99791", "Erythropoietic porphyria": "ORPHA:659681", "Dentin dysplasia-sclerotic bones syndrome": "ORPHA:99792", "Rowell syndrome": "ORPHA:658584", "Eyelid sebaceous carcinoma": "ORPHA:658590", "OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2": "ORPHA:99764", "OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2": "ORPHA:99764", "OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene": "ORPHA:99764", "OBSOLETE: FHHA2": "ORPHA:99764", "OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1": "ORPHA:99763", "OBSOLETE: 18-hydroxylase deficiency": "ORPHA:99763", "OBSOLETE: 18-oxidase deficiency": "ORPHA:99763", "OBSOLETE: Aldosterone synthase deficiency": "ORPHA:99763", "OBSOLETE: CMO I": "ORPHA:99763", "OBSOLETE: CMO II": "ORPHA:99763", "OBSOLETE: Corticosterone methyloxidase deficiency type I": "ORPHA:99763", "OBSOLETE: FHHA1": "ORPHA:99763", "Isolated pulmonary artery sling": "ORPHA:658574", "Isolated anomalous left pulmonary artery": "ORPHA:658574", "Isolated left pulmonary artery sling": "ORPHA:658574", "Non-transplant-related bronchiolitis obliterans": "ORPHA:658612", "COQ7-related distal hereditary motor neuropathy": "ORPHA:658778", "DNMT3A-related microcephalic dwarfism": "ORPHA:658595", "HESJAS": "ORPHA:658595", "Heyn-Sproul-Jackson syndrome": "ORPHA:658595", "Microcephaly-short stature-intellectual disability syndrome": "ORPHA:658595", "Transplant-related bronchiolitis obliterans": "ORPHA:658602", "BOS": "ORPHA:658602", "Bronchiolitis obliterans syndrome": "ORPHA:658602", "Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency": "ORPHA:658813", "CIMAH": "ORPHA:658813", "Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia": "ORPHA:658813", "Methylenetetrahydrofolate dehydrogenase 1 deficiency": "ORPHA:658813", "Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome": "ORPHA:658843", "Cleft velum": "ORPHA:99772", "Cleft soft palate": "ORPHA:99772", "Cleft velum palatinum": "ORPHA:99772", "Greig cephalopolysyndactyly-contiguous gene syndrome": "ORPHA:658805", "GCP-CGS": "ORPHA:658805", "Atrophoderma of Pasini and Pierini": "ORPHA:658810", "Bifid uvula": "ORPHA:99771", "Bifidity of the uvula": "ORPHA:99771", "Uvular cleft": "ORPHA:99771", "Clonorchiasis": "ORPHA:658917", "Achalasia-alacrimia syndrome": "ORPHA:99777", "Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency": "ORPHA:658946", "Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency": "ORPHA:658946", "Fasciolopsiasis": "ORPHA:658909", "Mosaic trisomy 9 syndrome": "ORPHA:99776", "Mosaic trisomy chromosome 9": "ORPHA:99776", "Trisomy 9 mosaicism": "ORPHA:99776", "Paragonimiasis": "ORPHA:658913", "Autosomal recessive spastic paraplegia type 82": "ORPHA:631073", "Autosomal recessive spastic paraplegia type 83": "ORPHA:631076", "Autosomal recessive spastic paraplegia type 84": "ORPHA:631079", "Autosomal recessive spastic paraplegia type 85": "ORPHA:631082", "Autosomal dominant spastic paraplegia type 80": "ORPHA:631068", "Spinocerebellar ataxia type 49": "ORPHA:631106", "Spinocerebellar ataxia type 48": "ORPHA:631103", "Spinocerebellar ataxia type 44": "ORPHA:631095", "Autosomal recessive spastic paraplegia type 87": "ORPHA:631088", "Autosomal recessive spastic paraplegia type 86": "ORPHA:631085", "Cancer of unknown primary site": "ORPHA:631251", "CUP": "ORPHA:631251", "Carcinoma of unknown primary": "ORPHA:631251", "Carcinoma of unknown primary origin": "ORPHA:631251", "Metastases without primary tumor": "ORPHA:631251", "Mitchell Syndrome": "ORPHA:631248", "Rare andrological tumor": "ORPHA:626609", "Mosaic NF2-related schwannomatosis": "ORPHA:634475", "MNF2": "ORPHA:634475", "Mosaic NF2": "ORPHA:634475", "Mosaic neurofibromatosis type 2": "ORPHA:634475", "Mosaic schwannomatosis": "ORPHA:634492", "MNF3": "ORPHA:634492", "Mosaic SWN": "ORPHA:634492", "Mosaic neurilemmomatosis": "ORPHA:634492", "Mosaic neurofibromatosis type 3": "ORPHA:634492", "Mosaic Legius syndrome": "ORPHA:634511", "Mosaic NF1-like syndrome": "ORPHA:634511", "Mosaic neurofibromatosis 1-like syndrome": "ORPHA:634511", "Neurofibromatosis/schwannomatosis": "ORPHA:634518", "NF/SWN": "ORPHA:634518", "Mosaic neurofibromatosis type 1": "ORPHA:634461", "MNF1": "ORPHA:634461", "Mosaic NF1": "ORPHA:634461", "Isolated proximal femoral focal deficiency": "ORPHA:633228", "CPFD": "ORPHA:633228", "Isolated congenital proximal femoral deficiency": "ORPHA:633228", "PFFD": "ORPHA:633228", "Isolated optic nerve aplasia": "ORPHA:637064", "Isolated optic nerve hypoplasia": "ORPHA:637061", "Autosomal recessive myosin storage myopathy": "ORPHA:636970", "MSMB": "ORPHA:636970", "Autosomal dominant myosin storage myopathy": "ORPHA:636965", "MSMA": "ORPHA:636965", "Borna virus encephalitis": "ORPHA:637051", "Bornavirus encephalitis": "ORPHA:637051", "SMARCA2-related blepharophimosis-intellectual disability syndrome": "ORPHA:637013", "Invasive candidiasis": "ORPHA:636945", "Disseminated candidiasis": "ORPHA:636945", "Systemic candidiasis": "ORPHA:636945", "Vascular Ehlers-Danlos-polymicrogyria syndrome": "ORPHA:636941", "Vascular EDS with polymicrogyria": "ORPHA:636941", "Endemic pemphigus foliaceus": "ORPHA:636955", "Fogo selvagem": "ORPHA:636955", "Glaucomatocyclitic crisis disease": "ORPHA:636950", "Posner-Schlossman syndrome": "ORPHA:636950", "Endogenous Cushing syndrome": "ORPHA:641613", "Endogenous CS": "ORPHA:641613", "Neonatal compartment syndrome": "ORPHA:641829", "CVIC": "ORPHA:641829", "Congenital Volkmann ischemic contracture syndrome": "ORPHA:641829", "NCS": "ORPHA:641829", "Neonatal Volkmann ischemic contracture syndrome": "ORPHA:641829", "Syndrome de Volkmann cong\u00e9nital": "ORPHA:641829", "Childhood-onset schizophrenia": "ORPHA:641496", "COS": "ORPHA:641496", "VEOS": "ORPHA:641496", "Very early-onset schizophrenia": "ORPHA:641496", "PsAPASH syndrome": "ORPHA:641390", "Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome": "ORPHA:641390", "Central nervous system tuberculosis": "ORPHA:641396", "CNS tuberculosis": "ORPHA:641396", "PAPASH syndrome": "ORPHA:641380", "Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome": "ORPHA:641380", "PASS syndrome": "ORPHA:641385", "Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome": "ORPHA:641385", "B-lymphoblastic leukemia/lymphoma with t(17;19)": "ORPHA:641375", "Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency": "ORPHA:641368", "AR-HIES due to ZNF341 deficiency": "ORPHA:641368", "Autosomal recessive HIES due to ZNF341 deficiency": "ORPHA:641368", "Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency": "ORPHA:641368", "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)": "ORPHA:641372", "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome": "ORPHA:641353", "HPDL-related Leigh-like encephalopathy": "ORPHA:641353", "HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome": "ORPHA:641353", "Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome": "ORPHA:641361", "Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome": "ORPHA:641361", "Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome": "ORPHA:641361", "Imprinting disorders": "ORPHA:641343", "Immunotherapy induced hypophysitis": "ORPHA:641350", "Perrault syndrome type 2": "ORPHA:642976", "XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations": "ORPHA:642976", "Autosomal recessive ataxia due to PEX2 deficiency": "ORPHA:642965", "Mild peroxisomal disorder due to PEX2 deficiency": "ORPHA:642965", "Autosomal recessive ataxia due to PEX16 deficiency": "ORPHA:642954", "Mild peroxisomal disorder due to PEX16 deficiency": "ORPHA:642954", "Perrault syndrome type 1": "ORPHA:642945", "XX gonadal dysgenesis-deafness syndrome-without neurological manifestations": "ORPHA:642945", "Cushing syndrome due to cortisol-producing adrenocortical adenoma": "ORPHA:642788", "CS due to cortisol-producing adrenocortical adenoma": "ORPHA:642788", "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation": "ORPHA:642763", "H1-4-related neurodevelopmental disorder": "ORPHA:642763", "Rahman syndrome": "ORPHA:642763", "PUM1-related cerebellar ataxia": "ORPHA:642747", "Adult-onset SCA47": "ORPHA:642747", "Adult-onset spinocerebellar ataxia type 47": "ORPHA:642747", "OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature": "ORPHA:642737", "Fragile X-associated primary ovarian insufficiency": "ORPHA:642691", "FXPOI": "ORPHA:642691", "Fragile X-associated POF": "ORPHA:642691", "Fragile X-associated POI": "ORPHA:642691", "Fragile X-associated premature ovarian failure": "ORPHA:642691", "POF associated with fragile X premutation": "ORPHA:642691", "POI associated with fragile X premutation": "ORPHA:642691", "Premature ovarian failure associated with fragile X premutation": "ORPHA:642691", "Primary ovarian insufficiency associated with fragile X premutation": "ORPHA:642691", "CHD8 overgrowth syndrome": "ORPHA:642675", "CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome": "ORPHA:642675", "Chromodomain helicase DNA binding protein 8 overgrowth syndrome": "ORPHA:642675", "Familial hyperaldosteronism type IV": "ORPHA:642671", "FH4": "ORPHA:642671", "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type": "ORPHA:642099", "SEMD-JL1": "ORPHA:642099", "SEMDJL1": "ORPHA:642099", "Spondyloepimetaphyseal dysplasia with joint laxity type 1": "ORPHA:642099", "EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity": "ORPHA:642085", "EXOC6B-SEMD-JL": "ORPHA:642085", "SEMD-JL3": "ORPHA:642085", "SEMDJL3": "ORPHA:642085", "Spondyloepimetaphyseal dysplasia with joint laxity type 3": "ORPHA:642085", "Primary pulmonary vein stenosis": "ORPHA:642071", "Congenital pulmonary vein stenosis": "ORPHA:642071", "PPVS": "ORPHA:642071", "OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor": "ORPHA:642013", "OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor": "ORPHA:642013", "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome": "ORPHA:632603", "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome": "ORPHA:633021", "Kilquist syndrome": "ORPHA:633021", "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome": "ORPHA:633024", "Delpire-McNeill syndrome": "ORPHA:633024", "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome": "ORPHA:633004", "Diets-Jongmans Syndrome": "ORPHA:633004", "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome": "ORPHA:633014", "Preaxial digit brachydactyly-webbed fingers": "ORPHA:633211", "Preaxial brachydactyly, PAX3 type": "ORPHA:633211", "Invasive scopulariopsis infection": "ORPHA:633124", "Intellectual disability-early-onset cataract-microcephaly syndrome": "ORPHA:633035", "Baralle-Macken syndrome": "ORPHA:633035", "CPE-related Prader-Willi-like syndrome": "ORPHA:633028", "BDV syndrome": "ORPHA:633028", "Blakemore-Durmaz-Vasileiou syndrome": "ORPHA:633028", "PAICS deficiency": "ORPHA:633099", "Phosphoribosylaminoimidazole carboxylase deficiency": "ORPHA:633099", "Split cord malformation, composite type": "ORPHA:633076", "Split cord malformation type 1.5": "ORPHA:633076", "Split cord malformation, intermediate type": "ORPHA:633076", "Split cord malformation, mixed type": "ORPHA:633076", "Spastic paraparesis-cataracts-speech delay syndrome": "ORPHA:615938", "Fatty acyl-CoA reductase 1 superactivity": "ORPHA:615938", "Granuloma faciale": "ORPHA:615943", "Facial granuloma of Lever": "ORPHA:615943", "Granuloma of Lever": "ORPHA:615943", "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster": "ORPHA:615986", "Lethal 1p36.33 deletion syndrome": "ORPHA:615986", "Chronic intervillositis of unknown etiology": "ORPHA:615970", "CIUE": "ORPHA:615970", "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation": "ORPHA:615983", "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome": "ORPHA:615954", "Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome": "ORPHA:615954", "Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome": "ORPHA:615954", "Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate": "ORPHA:615964", "Acute reversible leukoencephalopathy due to SLC13A3 deficiency": "ORPHA:615964", "Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency": "ORPHA:615964", "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome": "ORPHA:617449", "Classic eosinophilic pustular folliculitis": "ORPHA:617408", "Classic EPF": "ORPHA:617408", "Ofuji disease": "ORPHA:617408", "Painful legs and moving toes syndrome": "ORPHA:617440", "PLMT syndrome": "ORPHA:617440", "Rare disorder related to monochorionic twin pregnancy": "ORPHA:617307", "Amniotic fluid embolism": "ORPHA:617304", "Rare disorder due to inadequate sharing of the placenta": "ORPHA:617313", "Rare disorder due to unbalanced inter-twin blood transfusion": "ORPHA:617310", "Twin anemia-polycythemia sequence": "ORPHA:617294", "TAPS": "ORPHA:617294", "Rare disorder without a determined diagnosis after full investigation": "ORPHA:616874", "Fully investigated rare disorder without a determined diagnosis": "ORPHA:616874", "Selective intrauterine growth restriction": "ORPHA:617301", "Selective fetal growth restriction": "ORPHA:617301", "sFGR": "ORPHA:617301", "sIUGR": "ORPHA:617301", "Twin-reversed arterial perfusion sequence": "ORPHA:617297", "TRAP": "ORPHA:617297", "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome": "ORPHA:621758", "FINCA": "ORPHA:621758", "Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome": "ORPHA:621758", "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation": "ORPHA:620371", "Gitelman-like kidney tubulopathy due to mtDNA mutation": "ORPHA:620371", "EGF-related primary hypomagnesemia with intellectual disability": "ORPHA:620368", "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome": "ORPHA:620363", "Bartter syndrome type 1": "ORPHA:620217", "Bartter syndrome type I": "ORPHA:620217", "Bartter syndrome type 2": "ORPHA:620220", "Bartter syndrome type II": "ORPHA:620220", "Non-syndromic bicoronal and sagittal craniosynostosis": "ORPHA:620205", "Isolated bicoronal and sagittal craniosynostosis": "ORPHA:620205", "Non-syndromic sagittal and bilateral coronal synostosis": "ORPHA:620205", "Non-syndromic pansynostosis": "ORPHA:620212", "Isolated pansynostosis": "ORPHA:620212", "Non-syndromic synostosis of all cranial vault sutures": "ORPHA:620212", "Non-syndromic metopic and sagittal craniosynostosis": "ORPHA:620192", "Isolated metopic and sagittal craniosynostosis": "ORPHA:620192", "Non-syndromic metopic and sagittal suture synostosis": "ORPHA:620192", "Non-syndromic bicoronal and metopic craniosynostosis": "ORPHA:620198", "Isolated bicoronal and metopic craniosynostosis": "ORPHA:620198", "Non-syndromic bilateral coronal and metopic suture synostosis": "ORPHA:620198", "Non-syndromic bilambdoid craniosynostosis": "ORPHA:620178", "Isolated bilambdoid craniosynostosis": "ORPHA:620178", "Isolated pachycephaly": "ORPHA:620178", "Non-syndromic bilateral lambdoid synostosis": "ORPHA:620178", "Non-syndromic unicoronal and sagittal craniosynostosis": "ORPHA:620186", "Isolated unicoronal and sagittal craniosynostosis": "ORPHA:620186", "Non-syndromic unilateral coronal and sagittal suture synostosis": "ORPHA:620186", "Non-syndromic multisutural craniosynostosis": "ORPHA:620152", "Isolated multisutural craniosynostosis": "ORPHA:620152", "Non-syndromic multiple suture synostosis": "ORPHA:620152", "Non-syndromic non-specific multisutural craniosynostosis": "ORPHA:620158", "Isolated non-specific multisutural craniosynostosis": "ORPHA:620158", "Non-syndromic non-specific multiple suture synostosis": "ORPHA:620158", "Non-syndromic unifrontosphenoidal craniosynostosis": "ORPHA:620139", "Isolated unifrontosphenoidal craniosynostosis": "ORPHA:620139", "Isolated unilateral sphenofrontal suture synostosis": "ORPHA:620139", "Non-syndromic unilateral frontosphenoidal suture synostosis": "ORPHA:620139", "Non-syndromic unisquamosal craniosynostosis": "ORPHA:620146", "Isolated unisquamosal craniosynostosis": "ORPHA:620146", "Non-syndromic unilateral squamosal suture synostosis": "ORPHA:620146", "Non-syndromic unicoronal craniosynostosis": "ORPHA:620102", "Isolated frontal plagiocephaly": "ORPHA:620102", "Isolated unicoronal craniosynostosis": "ORPHA:620102", "Non-syndromic anterior synostotic plagiocephaly": "ORPHA:620102", "Non-syndromic frontoparietal craniosynostosis": "ORPHA:620102", "Non-syndromic hemicoronal craniosynostosis": "ORPHA:620102", "Non-syndromic unilateral coronal synostosis": "ORPHA:620102", "Non-syndromic unilambdoid craniosynostosis": "ORPHA:620113", "Isolated occipital plagiocephaly": "ORPHA:620113", "Isolated unilamboid craniosynostosis": "ORPHA:620113", "Non-syndromic posterior synostotic plagiocephaly": "ORPHA:620113", "Non-syndromic unilateral lambdoid synostosis": "ORPHA:620113", "Non-syndromic unisutural craniosynostosis": "ORPHA:620096", "Isolated unisutural craniosynostosis": "ORPHA:620096", "Non-syndromic single suture synostosis": "ORPHA:620096", "Non-specific autoimmune cerebellar ataxia without characteristic antibodies": "ORPHA:624268", "Non-specific autoimmune CA without characteristic antibodies": "ORPHA:624268", "PACA": "ORPHA:624268", "Primary Autoimmune Cerebellar Ataxia": "ORPHA:624268", "Non-specific autoimmune cerebellar ataxia with characteristic antibodies": "ORPHA:624259", "Non-specific autoimmune CA with characteristic antibodies": "ORPHA:624259", "Non-specific autoimmune brainstem encephalitis with characteristic antibodies": "ORPHA:624199", "Non-specific autoimmune rhombencephalitis with characteristic antibodies": "ORPHA:624199", "Non-specific autoimmune rhomboencephalitis with characteristic antibodies": "ORPHA:624199", "Paraneoplastic isolated brainstem encephalitis": "ORPHA:624190", "Paraneoplastic isolated rhombencephalitis": "ORPHA:624190", "Paraneoplastic isolated rhomboencephalitis": "ORPHA:624190", "Postinfectious cerebellitis": "ORPHA:624244", "ACA": "ORPHA:624244", "APCA": "ORPHA:624244", "Acute cerebellar ataxia": "ORPHA:624244", "Acute postinfectious cerebellar ataxia": "ORPHA:624244", "PIC": "ORPHA:624244", "Para-infectious cerebellitis": "ORPHA:624244", "Non-specific autoimmune brainstem encephalitis without characteristic antibodies": "ORPHA:624216", "Non-specific autoimmune rhombencephalitis without characteristic antibodies": "ORPHA:624216", "Non-specific autoimmune rhomboencephalitis without characteristic antibodies": "ORPHA:624216", "Body integrity dysphoria": "ORPHA:623789", "BID": "ORPHA:623789", "BIID": "ORPHA:623789", "Body integrity identity disorder": "ORPHA:623789", "Acute flaccid myelitis": "ORPHA:623801", "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies": "ORPHA:624166", "Non-specific supratentorial AE with characteristic antibodies": "ORPHA:624166", "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies": "ORPHA:624178", "Non-specific supratentorial AE without characteristic antibodies": "ORPHA:624178", "Autoimmune limbic encephalitis": "ORPHA:623615", "ALE": "ORPHA:623615", "Paraneoplastic cerebellar degeneration": "ORPHA:623626", "Paraneoplastic cerebellar ataxia": "ORPHA:623626", "Rapidely progressive cerebellar syndrome": "ORPHA:623626", "Subacute cerebellar degeneration": "ORPHA:623626", "Immune-mediated cerebellar ataxia": "ORPHA:623638", "Autoimmune cerebellitis": "ORPHA:623638", "IMCA": "ORPHA:623638", "MIR140-related spondyloepiphyseal dysplasia": "ORPHA:623695", "MIR140-related SED": "ORPHA:623695", "Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses": "ORPHA:623695", "X-linked severe syndromic thoracic aortic aneurysm and dissection": "ORPHA:622925", "Meester-Loeys syndrome": "ORPHA:622925", "X-linked severe syndromic TAAD": "ORPHA:622925", "SBDS-related severe neonatal spondylometaphyseal dysplasia": "ORPHA:622934", "SBDS-related severe neonatal SMD": "ORPHA:622934", "Spondylometaphyseal dysplasia, Sedaghatian-like type": "ORPHA:622934", "Autoimmune encephalitis": "ORPHA:622014", "AE": "ORPHA:622014", "AIE": "ORPHA:622014", "Superior mesenteric artery syndrome": "ORPHA:622099", "SMAS": "ORPHA:622099", "Wilkie syndrome": "ORPHA:622099", "Genetic autoinflammatory syndrome with skin involvement": "ORPHA:622720", "Rare genetic nevus": "ORPHA:622914", "Acid sphingomyelinase deficiency": "ORPHA:618899", "ASMD": "ORPHA:618899", "Chronic neurovisceral acid sphingomyelinase deficiency": "ORPHA:618891", "Chronic neurovisceral ASMD": "ORPHA:618891", "NPD-A/B": "ORPHA:618891", "Niemann-Pick disease type A/B": "ORPHA:618891", "Conjunctival malignant melanoma": "ORPHA:617910", "Conjunctival melanoma": "ORPHA:617910", "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia": "ORPHA:617916", "F12-associated cold autoinflammatory syndrome": "ORPHA:617919", "FACAS": "ORPHA:617919", "Hemophilia B Leyden": "ORPHA:617930", "F9 deficiency, Leyden type": "ORPHA:617930", "Factor IX deficiency, Leyden type": "ORPHA:617930", "Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency": "ORPHA:619941", "Congenital neutropenia-CID due to MKL1 deficiency": "ORPHA:619941", "Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency": "ORPHA:619941", "MKL1-related neutrophil motility defect": "ORPHA:619941", "SAMD9L-associated autoinflammatory syndrome": "ORPHA:619367", "SAMD9L-SAAD": "ORPHA:619367", "Familial hyperinflammatory lymphoproliferative immunodeficiency": "ORPHA:619953", "HEM1 deficiency syndrome": "ORPHA:619953", "NCKAP1L-associated hyperinflammatory disorder": "ORPHA:619953", "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency": "ORPHA:619948", "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency": "ORPHA:619948", "SOCS1-related autoinflammatory syndrome": "ORPHA:619948", "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome": "ORPHA:619979", "CADINS disease": "ORPHA:619972", "CARD11-associated atopy with dominant interference of NF-kB signaling syndrome": "ORPHA:619972", "Rare hereditary connective tissue disease": "ORPHA:619249", "Narcolepsy": "ORPHA:619284", "Narcolepsy with or without cataplexy": "ORPHA:619284", "Inherited hematologic cancer-predisposing syndrome": "ORPHA:619340", "NOCARH syndrome": "ORPHA:619363", "Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome": "ORPHA:619363", "Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome": "ORPHA:619363", "NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin": "ORPHA:619360", "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome": "ORPHA:619233", "Dias-Logan syndrome": "ORPHA:619233", "Rare hereditary autoinflammatory disease": "ORPHA:619238" }