diff --git "a/orpha_concept2id.json" "b/orpha_concept2id.json" new file mode 100644--- /dev/null +++ "b/orpha_concept2id.json" @@ -0,0 +1,25497 @@ +{ + "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" +} \ No newline at end of file