{"lang":"en","d":[[5,"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",["LCHAD deficiency","LCHADD","Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency"]],[6,"3-methylcrotonyl-CoA carboxylase deficiency",["3-methylcrotonylglycinuria","MCC deficiency","MCCD"]],[7,"3C syndrome",["Craniocerebellocardiac dysplasia","Ritscher-Schinzel syndrome"]],[8,"47,XYY syndrome",["Double Y syndrome","Jacobs syndrome","XYY syndrome","Y disomy"]],[9,"Tetrasomy X syndrome",["48,XXXX syndrome","Quadruple X","Tetra X"]],[10,"48,XXYY syndrome"],[11,"Pentasomy X syndrome",["49,XXXXX syndrome","Penta-X","Poly-X"]],[13,"6-pyruvoyl-tetrahydropterin synthase deficiency",["Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"]],[14,"Abetalipoproteinemia",["Bassen-Kornzweig disease"]],[15,"Achondroplasia"],[16,"Blue cone monochromatism",["Atypical X-linked achromatopsia","Blue cone monochromacy","Color blindness, blue monocone monochromatic type","S cone monochromacy","S cone monochromatism","X-linked incomplete achromatopsia"]],[17,"Fatal infantile lactic acidosis with methylmalonic aciduria"],[18,"Distal renal tubular acidosis",["Classic RTA","Familial distal primary acidosis","Renal tubular acidosis type 1","dRTA"]],[19,"2-hydroxyglutaric aciduria",["2-hydroxyglutaric acidemia"]],[20,"3-hydroxy-3-methylglutaric aciduria",["3-hydroxy-3-methylglutaryl-CoA lyase deficiency","HMG-CoA lyase deficiency","Hydroxymethylglutaric aciduria"]],[22,"Succinic semialdehyde dehydrogenase deficiency",["4-hydroxybutyric aciduria","Gamma-hydroxybutyric aciduria","SSADH deficiency"]],[23,"Argininosuccinic aciduria",["ASA deficiency","ASL deficiency","Argininosuccinase deficiency","Argininosuccinatelyase deficiency","Argininosuccinic acid lyase deficiency"]],[24,"Fumaric aciduria",["Fumarase deficiency"]],[25,"Glutaryl-CoA dehydrogenase deficiency",["GA1","GCDHD","Glutaric acidemia type 1","Glutaric aciduria type 1","Glutaryl-coenzyme A dehydrogenase deficiency"]],[26,"Methylmalonic acidemia with homocystinuria",["Combined defect in adenosylcobalamin and methylcobalamin synthesis","Methylmalonic aciduria with homocystinuria"]],[27,"Vitamin B12-unresponsive methylmalonic acidemia",["Methylmalonyl-CoA mutase deficiency","Methylmalonyl-Coenzyme A mutase deficiency","Vitamin B12-unresponsive methylmalonic aciduria"]],[28,"Vitamin B12-responsive methylmalonic acidemia",["Adenosylcobalamin deficiency","Vitamin B12-responsive methylmalonic aciduria"]],[29,"Mevalonic aciduria",["Complete mevalonate kinase deficiency","MVA"]],[30,"Hereditary orotic aciduria",["Orotidylic decarboxylase deficiency","Uridine monophosphate synthetase deficiency"]],[31,"Oxoglutaric aciduria",["Alpha-ketoglutarate dehydrogenase deficiency"]],[32,"Glutathione synthetase deficiency",["Pyroglutamicaciduria"]],[33,"Isovaleric acidemia",["Isovaleric acid CoA dehydrogenase deficiency"]],[34,"Pipecolic acidemia",["Hyperpipecolatemia"]],[35,"Propionic acidemia",["Ketotic hyperglycinemia","Propionic aciduria","Propionyl-CoA carboxylase deficiency"]],[36,"Acrocallosal syndrome",["ACS"]],[37,"Acrodermatitis enteropathica",["AEZ","Acrodermatitis enteropathica, zinc deficiency type","Inherited zinc deficiency"]],[38,"Acrokeratoelastoidosis of Costa",["AKE","PPKP3","Punctate palmoplantar hyperkeratosis type 3","Punctate palmoplantar keratoderma type 3"]],[39,"Acromelanosis"],[40,"Acromesomelic dysplasia, Maroteaux type"],[41,"Dyschromatosis symmetrica hereditaria",["Acropigmentation of Dohi"]],[42,"Medium chain acyl-CoA dehydrogenase deficiency",["ACADM deficiency","Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency","MCAD deficiency","MCADD","Medium chain acyl-coenzyme A dehydrogenase deficiency"]],[43,"X-linked adrenoleukodystrophy",["ALD","X-ALD","X-linked ALD"]],[44,"Neonatal adrenoleukodystrophy",["Intermediate PBD-ZSD","Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder","NALD"]],[45,"Adenosine monophosphate deaminase deficiency",["AMP deaminase deficiency","Myoadenylate deaminase deficiency"]],[46,"Adenylosuccinate lyase deficiency",["ADSL deficiency","Adenylosuccinase deficiency"]],[47,"X-linked agammaglobulinemia",["BTK-deficiency","Bruton type agammaglobulinemia"]],[48,"Congenital bilateral absence of vas deferens",["CBAVD","Congenital bilateral agenesis of vas deferens","Congenital bilateral aplasia of vas deferens"]],[49,"Penile agenesis",["Aphallia","Penis agenesis"]],[50,"Aicardi syndrome",["Agenesis of corpus callosum with chorioretinal abnormality"]],[51,"Aicardi-Goutières syndrome",["Encephalopathy with basal ganglia calcification","Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid"]],[52,"Alagille syndrome",["Alagille-Watson syndrome","Arteriohepatic dysplasia","Syndromic bile duct paucity"]],[53,"Albers-Schönberg osteopetrosis",["Osteopetrosis autosomal dominant type 2"]],[54,"X-linked recessive ocular albinism",["OA1","Ocular albinism type 1","Ocular albinism, Nettleship-Falls type","XLOA"]],[55,"Oculocutaneous albinism",["OCA"]],[56,"Alkaptonuria",["Hereditary ochronosis","Homogentisic acid oxidase deficiency"]],[57,"Glycogen storage disease due to aldolase A deficiency",["GSD due to aldolase A deficiency","GSD type 12","GSD type XII","Glycogen storage disease type 12","Glycogen storage disease type XII","Glycogenosis due to aldolase A deficiency","Glycogenosis type 12","Glycogenosis type XII"]],[58,"Alexander disease",["AxD"]],[59,"Allan-Herndon-Dudley syndrome",["AHDS","MCT8 deficiency","Monocarboxylate transporter 8 deficiency","X-linked intellectual disability-hypotonia syndrome"]],[60,"Alpha-1-antitrypsin deficiency",["Alpha-1-proteinase inhibitor deficiency","Alpha1-antitrypsin deficiency"]],[61,"Alpha-mannosidosis",["Lysosomal alpha-D-mannosidase deficiency"]],[62,"Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3",["Alpha-sarcoglycan-related LGMD R3","Alpha-sarcoglycanopathy","Autosomal recessive limb-girdle muscular dystrophy type 2D","LGMD due to alpha-sarcoglycan deficiency","LGMD type 2D","LGMD2D","Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2D"]],[63,"Alport syndrome",["Alport deafness-nephropathy","Alport hearing loss-nephropathy"]],[64,"Alström syndrome"],[65,"Leber congenital amaurosis",["Amaurosis congenita of Leber"]],[67,"Amoebiasis due to Entamoeba histolytica"],[68,"Amoebiasis due to free-living amoebae"],[69,"Amyloidosis"],[70,"Proximal spinal muscular atrophy",["SMA"]],[71,"Chylomicron retention disease",["Anderson disease","CMRD","CRD"]],[72,"Angelman syndrome"],[73,"Gorham-Stout disease",["Gorham disease","Gorham syndrome","Idiopathic massive osteolysis","Progressive massive osteolysis","Vanishing bone disease"]],[74,"Angiostrongyliasis"],[76,"Strongyloidiasis",["Anguilluliasis","Anguillulosis"]],[77,"OBSOLETE: Aniridia"],[78,"Ankylostomiasis",["Ancylostomiasis","Hookworm infection"]],[79,"Congenital alpha2-antiplasmin deficiency"],[80,"Antiphospholipid syndrome",["APLS","Antiphospholipid antibody syndrome","Classic APLS","Classic antiphospholipid syndrome","Hughes syndrome"]],[81,"Antisynthetase syndrome",["AS syndrome","ASS","ASyS","Anti-ARS syndrome","Anti-Jo1 syndrome","Anti-aminoacyl-tRNA synthetase syndrome"]],[82,"Hereditary thrombophilia due to congenital antithrombin deficiency",["Hereditary thrombophilia due to congenital antithrombin 3 deficiency"]],[83,"Antley-Bixler syndrome"],[84,"Fanconi anemia",["Fanconi pancytopenia"]],[85,"Congenital dyserythropoietic anemia",["CDA"]],[86,"Familial abdominal aortic aneurysm"],[87,"Apert syndrome",["ACS1","Acrocephalosyndactyly type 1"]],[88,"Idiopathic aplastic anemia",["Idiopathic bone marrow failure"]],[90,"Argininemia",["Arginase 1 deficiency","Arginase deficiency","Hyperargininemia"]],[91,"Aromatase deficiency",["Congenital estrogen deficiency"]],[92,"Juvenile idiopathic arthritis",["Juvenile chronic arthritis","Juvenile rheumatoid arthritis"]],[93,"Aspartylglucosaminuria",["Aspartylglucosaminidase deficiency"]],[94,"Astrocytoma",["Astrocytic tumor"]],[95,"Friedreich ataxia",["FA","FRDA"]],[96,"Ataxia with vitamin E deficiency",["AVED","Ataxia with isolated vitamin E deficiency","Familial isolated vitamin E deficiency","Friedreich-like ataxia","Isolated vitamin E deficiency"]],[97,"Familial paroxysmal ataxia",["Episodic ataxia type 2"]],[98,"Autosomal recessive spastic ataxia of Charlevoix-Saguenay",["ARSACS","Autosomal recessive spastic ataxia type 6","SPAX6"]],[99,"Autosomal dominant cerebellar ataxia",["ADCA","Autosomal dominant spinocerebellar ataxia"]],[100,"Ataxia-telangiectasia",["Louis-Bar syndrome"]],[101,"Dentatorubral pallidoluysian atrophy",["DRPLA","Dentatorubropallidoluysian atrophy","Naito-Oyanagi disease"]],[102,"Multiple system atrophy",["MSA","Multisystem atrophy"]],[103,"OBSOLETE: Genetic optic atrophy"],[104,"Leber hereditary optic neuropathy",["LHON","Leber optic atrophy"]],[105,"Atresia of urethra",["Urethral atresia"]],[106,"NON RARE IN EUROPE: Autism"],[107,"BOR syndrome",["Branchiootorenal spectrum disorder","Branchiootorenal syndrome","Melnick-Fraser syndrome"]],[108,"Babesiosis"],[109,"Bannayan-Riley-Ruvalcaba syndrome",["BRRS","Myhre-Riley-Smith syndrome"]],[110,"Bardet-Biedl syndrome",["BBS"]],[111,"Barth syndrome",["3-methylglutaconic aciduria type 2","BTHS","Cardioskeletal myopathy with neutropenia and abnormal mitochondria","Cardioskeletal myopathy-neutropenia syndrome","MGA2","X-linked cardioskeletal myopathy and neutropenia"]],[112,"Bartter syndrome",["Renal tubular normotensive hypokalemic alkalosis with hypercalciuria","Salt-losing tubular disorder, Henle's loop type","Salt-wasting tubulopathy, Henle's loop type"]],[113,"Bazex-Dupré-Christol syndrome",["BDCS","Follicular atrophoderma and basal cell carcinomas"]],[114,"Auriculoosteodysplasia"],[115,"Congenital contractural arachnodactyly",["Beals syndrome","Beals-Hecht syndrome","CCA syndrome","Distal arthrogryposis type 9"]],[116,"Beckwith-Wiedemann syndrome",["BWS","Exomphalos-macroglossia-gigantism syndrome","Wiedemann-Beckwith syndrome"]],[117,"Behçet disease"],[118,"Beta-mannosidosis",["Beta-mannosidase deficiency"]],[119,"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4",["Autosomal recessive limb-girdle muscular dystrophy type 2E","Beta-sarcoglycan-related LGMD R4","Beta-sarcoglycanopathy","LGMD due to beta-sarcoglycan deficiency","LGMD type 2E","LGMD2E","Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2E"]],[120,"NON RARE IN EUROPE: Pernicious anemia",["NON RARE IN EUROPE: Acquired pernicious anemia","NON RARE IN EUROPE: Addison-Biermer anemia","NON RARE IN EUROPE: Addisonian anemia","NON RARE IN EUROPE: Biermer anemia","NON RARE IN EUROPE: Biermer disease","NON RARE IN EUROPE: Juvenile onset pernicious anemia"]],[122,"Birt-Hogg-Dubé syndrome",["Hornstein-Knickenberg syndrome"]],[123,"Björnstad syndrome",["Deafness-pili torti-hypogonadism syndrome","Hearing loss-pili torti-hypogonadism syndrome","Crandall syndrome"]],[124,"Diamond-Blackfan anemia",["DBA","Congenital PRCA","Congenital pure red cell aplasia","Diamond-Blackfan anemia syndrome"]],[125,"Bloom syndrome",["BSyn"]],[126,"Blepharophimosis-ptosis-epicanthus inversus syndrome",["BPES"]],[127,"Borjeson-Forssman-Lehmann syndrome",["BFLS","Intellectual disability-epilepsy-endocrine disorders syndrome"]],[128,"Diphyllobothriasis",["Bothriocephalosis"]],[129,"Pseudopelade of Brocq"],[130,"Brugada syndrome",["Ventricular fibrillation, Brugada type"]],[131,"Budd-Chiari syndrome",["BCS"]],[132,"Hereditary butyrylcholinesterase deficiency",["Hereditary pseudocholinesterase deficiency"]],[133,"Chronic beryllium disease",["Berylliosis","Chronic berylliosis","Chronic beryllium lung disease"]],[134,"Beta-ketothiolase deficiency",["3-ketothiolase deficiency","3-oxothiolase deficiency","Alpha methylacetoacetic aciduria","Alpha-methyl-acetoacetyl-CoA thiolase deficiency","Mitochondrial acetoacetyl-coenzyme A thiolase deficiency","T2 deficiency"]],[135,"CACH syndrome",["Childhood ataxia with diffuse central nervous system hypomyelination","Leukoencephalopathy with vanishing white matter","Myelinosis centralis diffusa"]],[136,"CADASIL",["Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy","Hereditary multi-infarct dementia"]],[137,"Congenital disorder of glycosylation",["CDG","Carbohydrate deficient glycoprotein syndrome"]],[138,"CHARGE syndrome",["CHARGE association","Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome","Hall-Hittner syndrome"]],[139,"CHILD syndrome",["CHILD nevus","Congenital hemidysplasia with ichthyosiform erythroderma and limb defects"]],[140,"Campomelic dysplasia",["Campomelic dwarfism"]],[141,"Canavan disease",["ACY2 deficiency","Aminoacylase 2 deficiency","Aspartoacylase deficiency","Spongy degeneration of the brain"]],[142,"Anaplastic thyroid carcinoma"],[143,"Parathyroid carcinoma"],[144,"Lynch syndrome"],[145,"Hereditary breast and/or ovarian cancer syndrome"],[146,"Differentiated thyroid carcinoma",["Papillary or follicular thyroid carcinoma","Well-differentiated thyroid carcinoma"]],[147,"Carbamoyl-phosphate synthetase 1 deficiency",["CPS1 deficiency","CPS1D","Carbamoyl-phosphate synthetase I deficiency","Carbamoyl-phosphate synthetase deficiency"]],[148,"Multiple carboxylase deficiency",["MCD"]],[150,"Nasopharyngeal carcinoma",["NCP","Squamous cell carcinoma of the nasopharynx"]],[151,"OBSOLETE: Familial renal cell carcinoma"],[154,"Familial isolated dilated cardiomyopathy",["Familial or idiopathic dilated cardiomyopathy"]],[155,"NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy",["NON RARE IN EUROPE: Familial isolated hypertrophic obstructive cardiomyopathy","NON RARE IN EUROPE: Familial isolated hypertrophic subaortic stenosis","NON RARE IN EUROPE: Familial or idiopathic hypertrophic subaortic stenosis","NON RARE IN EUROPE: Familila or idiopathic hypertrophic obstructive cardiomyopathy","NON RARE IN EUROPE: Hypertrophic obstructive cardiomyopathy","NON RARE IN EUROPE: Primitive hypertrophic obstructive cardiomyopathy","NON RARE IN EUROPE: Primitive hypertrophic subaortic stenosis"]],[156,"Carnitine palmitoyl transferase 1A deficiency",["CPT1A deficiency","Carnitine palmitoyl transferase IA deficiency","Hepatic carnitine palmitoyl transferase 1 deficiency","Hepatic carnitine palmitoyl transferase I deficiency","L-CPT1 deficiency","L-CPTI deficiency"]],[157,"Carnitine palmitoyltransferase II deficiency",["CPT2","CPTII","Carnitine palmitoyltransferase deficiency type 2"]],[158,"Systemic primary carnitine deficiency",["CDSP","CUD","Carnitine transporter defect","Carnitine uptake deficiency","Deficiency of plasma-membrane carnitine transporter","SPCD"]],[159,"Carnitine-acylcarnitine translocase deficiency",["CACT deficiency"]],[160,"Castleman disease",["Angiofollicular ganglionic hyperplasia","Angiofollicular lymph hyperplasia"]],[162,"Congenital cataract-anterior segment dysgenesis syndrome",["Congenital cataract-ASD syndrome","Congenital cataract-ASGD syndrome","Congenital cataract-ASMD syndrome","Congenital cataract-anterior segment mesenchymal dysgenesis syndrome"]],[163,"Hereditary hyperferritinemia-cataract syndrome",["HHCS","Hereditary hyperferritinemia with cataracts","Hereditary hyperferritinemia-cataract disease"]],[164,"NON RARE IN EUROPE: Cerebral cavernous malformations",["NON RARE IN EUROPE: Brain cavernous angioma","NON RARE IN EUROPE: Brain cavernous hemangioma","NON RARE IN EUROPE: Cerebral cavernoma"]],[165,"Neutral lipid storage disease",["Lipidosis with triglyceride storage disease"]],[166,"Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy",["CMT/HMSN","Charcot-Marie-Tooth hereditary neuropathy"]],[167,"Chédiak-Higashi syndrome",["Chédiak-Higashi disease","Chédiak-Higashi-Steinbrink syndrome"]],[168,"Loose anagen syndrome"],[169,"Ringed hair disease",["Pili annulati"]],[170,"Woolly hair",["Familial woolly hair syndrome","Familial wooly hair syndrome","Hereditary woolly hair syndrome","Hereditary wooly hair syndrome","Wooly hair"]],[171,"Primary sclerosing cholangitis",["PSC"]],[172,"Progressive familial intrahepatic cholestasis",["PFIC"]],[173,"Cholera"],[174,"Metaphyseal chondrodysplasia, Schmid type",["MDSC","SMCD"]],[175,"Cartilage-hair hypoplasia",["Autosomal recessive metaphyseal chondrodysplasia","Metaphyseal chondrodysplasia, McKusick type"]],[176,"Non-rhizomelic chondrodysplasia punctata"],[177,"Rhizomelic chondrodysplasia punctata",["RCDP"]],[178,"Chordoma",["Notochordal sarcoma"]],[179,"Birdshot chorioretinopathy",["Birdshot chorioretinitis","Birdshot retinochoroiditis","Birdshot retinochoroidopathy","Vitiliginous choroiditis"]],[180,"Choroideremia",["CHM","Tapetochoroidal dystrophy"]],[181,"X-linked hypohidrotic ectodermal dysplasia",["Christ-Siemens-Touraine syndrome","XHED"]],[182,"Chromomycosis",["Chromoblastomycosis"]],[183,"Eosinophilic granulomatosis with polyangiitis",["Churg-Strauss syndrome","EGPA","Granulomatous allergic angiitis"]],[184,"Cherubism",["CRBM"]],[185,"Scimitar syndrome",["Congenital pulmonary venolobar syndrome","Epibronchial right pulmonary vein syndrome","Halasz syndrome","Hypogenetic lung syndrome"]],[186,"Primary biliary cholangitis",["Hanot syndrome","PBC","Primary biliary cirrhosis"]],[187,"Citrullinemia"],[188,"Systemic capillary leak syndrome",["Capillary hyperpermeability syndrome","Capillary leak syndrome","Clarkson disease","Idiopathic capillary leak syndrome","SCLS"]],[189,"Hidrotic ectodermal dysplasia",["Clouston syndrome"]],[190,"Coats disease",["Congenital retinal telangiectasia","Leber miliary aneurysm"]],[191,"Cockayne syndrome"],[192,"Coffin-Lowry syndrome",["CLS"]],[193,"Cohen syndrome"],[194,"OBSOLETE: Ocular coloboma"],[195,"Cat-eye syndrome",["CES"]],[198,"Occipital horn syndrome"],[199,"Cornelia de Lange syndrome",["Brachmann-de Lange syndrome"]],[200,"Isolated corpus callosum agenesis"],[201,"Cowden syndrome",["Cowden disease","Multiple hamartoma syndrome"]],[202,"Crandall syndrome",["Alopecia-deafness-hypogonadism syndrome","Alopecia-hearing loss-hypogonadism syndrome","Alopecia-sensorineural deafness-hypogonadism syndrome","Alopecia-sensorineural hearing loss-hypogonadism syndrome"]],[204,"Sporadic Creutzfeldt-Jakob disease",["Sporadic CJD"]],[205,"Crigler-Najjar syndrome",["Bilirubin uridinediphosphate glucuronosyltransferase deficiency","Bilirubin-UGT deficiency"]],[206,"NON RARE IN EUROPE: Crohn disease"],[207,"Crouzon syndrome",["Crouzon craniofacial dysostosis"]],[209,"Cutis laxa"],[210,"Cyclosporiasis"],[211,"Familial cylindromatosis",["Turban tumor syndrome"]],[212,"Cystathioninuria",["Cystathionase deficiency","Cystathionine gamma-lyase deficiency syndrome","Gamma-cystathionase deficiency"]],[213,"Cystinosis",["Protein defect of cystin transport"]],[214,"Cystinuria",["Cystinuria-lysinuria syndrome"]],[215,"Congenital stationary night blindness",["Congenital essential nyctalopia"]],[216,"Neuronal ceroid lipofuscinosis",["CLN disease","NCL","NCL disease"]],[217,"Isolated Dandy-Walker malformation"],[218,"Darier disease",["Darier-White disease","Keratosis follicularis"]],[219,"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6",["Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2F","Autosomal recessive limb-girdle muscular dystrophy type 2F","Delta-sarcoglycan-related LGMD R6","Delta-sarcoglycanopathy","LGMD due to delta-sarcoglycan deficiency","LGMD type 2F","LGMD2F"]],[220,"Denys-Drash syndrome",["Drash syndrome","Wilms tumor-DSD syndrome","Wilms tumor-disorder of sex development syndrome"]],[221,"Dermatomyositis",["Adult dermatomyositis"]],[222,"Erosive pustular dermatosis of the scalp"],[223,"Arginine vasopressin resistance",["Nephrogenic diabetes insipidus"]],[224,"Neonatal diabetes mellitus",["Congenital diabetes mellitus","Diabetes of infancy","Monogenic diabetes of infancy","NDM"]],[225,"NON RARE IN EUROPE: Maternally-inherited diabetes and deafness",["NON RARE IN EUROPE: MIDD","NON RARE IN EUROPE: Maternally-inherited diabetes and hearing loss","NON RARE IN EUROPE: Mitochondrial diabetes"]],[226,"Dihydropteridine reductase deficiency",["Hyperphenylalaninemia due to dihydropteridine reductase deficiency","PKU type 2","Phenylketonuria type 2"]],[227,"Diphallia"],[229,"Familial aortic dissection",["Annuloaortic ectasia","Cystic medial necrosis of aorta"]],[230,"Dopamine beta-hydroxylase deficiency",["DBH deficiency"]],[231,"Dracunculiasis",["Dracunculosis","Guinea worm disease","Medina worm disease","Medinensis"]],[232,"Sickle cell anemia",["Homozygous hemoglobin S","Homozygous sickle cell anemia SS"]],[233,"Duane retraction syndrome",["DRS","DURS","Duane syndrome","Stilling-Turk-Duane syndrome"]],[234,"Dubin-Johnson syndrome",["Dubin-Sprinz disease","Hyperbilirubinemia type 2","Sprinz-Nelson syndrome"]],[235,"Dubowitz syndrome"],[236,"Trisomy 9p syndrome",["Duplication 9p","Duplication of the short arm of chromosome 9","Trisomy of the short arm of chromosome 9"]],[237,"Duplication of urethra"],[238,"OBSOLETE: Digestive duplication"],[239,"Dyggve-Melchior-Clausen disease"],[240,"Léri-Weill dyschondrosteosis",["Léri-Weill syndrome"]],[241,"Dyschromatosis universalis hereditaria"],[242,"46,XY complete gonadal dysgenesis",["46,XY CGD","46,XY pure gonadal dysgenesis","Swyer syndrome"]],[243,"46,XX gonadal dysgenesis",["46,XX complete gonadal dysgenesis","46,XX ovarian dysgenesis","46,XX pure gonadal dysgenesis","Hypergonadotropic ovarian dysgenesis","XX female gonadal dysgenesis","XX-GD"]],[244,"Primary ciliary dyskinesia",["PCD"]],[245,"Nager syndrome",["Mandibulofacial dysostosis with preaxial limb anomalies","NAFD","Nager acrofacial dysostosis","Preaxial acrodysostosis"]],[246,"Postaxial acrofacial dysostosis",["Acrofacial dysostosis, Genee-Wiedemann type","Mandibulofacial dysostosis with postaxial limb anomalies","Miller syndrome","POADS","Postaxial acrodysostosis"]],[247,"Inherited arrhythmogenic cardiomyopathy",["Arrhythmogenic cardiomyopathy","ACM"]],[248,"Autosomal recessive hypohidrotic ectodermal dysplasia",["AR-HED"]],[249,"Fibrous dysplasia of bone"],[250,"Frontonasal dysplasia",["Median cleft face syndrome"]],[251,"Multiple epiphyseal dysplasia",["EDM","MED","Polyepiphyseal dysplasia"]],[252,"OBSOLETE: Spondyloepimetaphyseal dysplasia"],[253,"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia",["SED and SEMD"]],[254,"Spondylometaphyseal dysplasia"],[255,"Dopa-responsive dystonia",["HPD with diurnal fluctuation","Hereditary progressive dystonia with diurnal fluctuation"]],[256,"Early-onset generalized limb-onset dystonia",["Dystonia musculorum deformans","EOTD","Early-onset generalized torsion dystonia","Early-onset isolated dystonia","Early-onset primary dystonia","Early-onset torsion dystonia","Idiopathic torsion dystonia","Oppenheim dystonia"]],[257,"Epidermolysis bullosa simplex with muscular dystrophy",["EBS with muscular dystrophy","EBS-MD","Limb-girdle muscular dystrophy with epidermolysis bullosa simplex"]],[258,"Laminin subunit alpha 2-related congenital muscular dystrophy",["CMD1A","Congenital muscular dystrophy due to laminin alpha2 deficiency","Congenital muscular dystrophy type 1A","MDC1A","Merosin-negative congenital muscular dystrophy"]],[261,"Emery-Dreifuss muscular dystrophy",["EDMD"]],[262,"Duchenne and Becker muscular dystrophy",["Severe dystrophinopathy, Duchenne and Becker type"]],[263,"Limb-girdle muscular dystrophy",["LGMD"]],[264,"Autosomal dominant limb-girdle muscular dystrophy type 1B",["LGMD1B","Limb-girdle muscular dystrophy due to lamin A/C deficiency"]],[265,"Autosomal dominant limb-girdle muscular dystrophy type 1C",["LGMD1C","Limb-girdle muscular dystrophy due to caveolin-3 deficiency"]],[266,"Autosomal dominant limb-girdle muscular dystrophy type 1A",["LGMD1A","Limb-girdle muscular dystrophy due to myotilin deficiency"]],[267,"Calpain-3-related limb-girdle muscular dystrophy R1",["Autosomal recessive limb-girdle muscular dystrophy type 2A","Calpain-3-related LGMD R1","LGMD type 2A","LGMD2A","Limb-girdle muscular dystrophy due to calpain deficiency","Limb-girdle muscular dystrophy type 2A","Primary calpainopathy"]],[268,"Dysferlin-related limb-girdle muscular dystrophy R2",["Autosomal recessive limb-girdle muscular dystrophy type 2B","Dysferlin-related LGMD R2","LGMD due to dysferlin deficiency","LGMD type 2B","LGMD2B","Limb-girdle muscular dystrophy due to dysferlin deficiency","Limb-girdle muscular dystrophy type 2B"]],[269,"Facioscapulohumeral dystrophy",["FSH dystrophy","FSHD","Facioscapulohumeral muscular dystrophy","Facioscapulohumeral myopathy","Landouzy-Dejerine dystrophy","Landouzy-Dejerine myopathy"]],[270,"Oculopharyngeal muscular dystrophy",["OPMD"]],[272,"Congenital muscular dystrophy, Fukuyama type",["FCMD","FKTN-related congenital muscular dystrophy","Fukuyama congenital muscular dystrophy"]],[273,"Steinert myotonic dystrophy",["Myotonic dystrophy type 1","Steinert disease"]],[274,"Bernard-Soulier syndrome",["Hemorrhagiparous thrombocytic dystrophy","Giant platelet syndrome"]],[275,"T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency",["SCID T-B-NK+ due to ARTEMIS deficiency","SCID T-B-NK+ due to DCLRE1C deficiency","SCID T-B-NK+, Athabascan type","SCID T-B-NK+, Athabaskan type","T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency","T-B-NK+ severe combined immunodeficiency, Athabascan type","T-B-NK+ severe combined immunodeficiency, Athabaskan type"]],[276,"T-B+NK- severe combined immunodeficiency due to gamma chain deficiency",["SCIDX1","T-B+K- severe combined immunodeficiency, X-linked","T-B+NK- SCID due to gamma chain deficiency"]],[277,"T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency",["ADA deficiency","T-B-NK- SCID due to adenosine deaminase deficiency"]],[278,"OBSOLETE: Corticobasal degeneration"],[279,"NON RARE IN EUROPE: Age-related macular degeneration"],[280,"Wolf-Hirschhorn syndrome",["4p- syndrome","Distal deletion 4p","Distal monosomy 4p","Telomeric deletion 4p"]],[281,"Monosomy 5p syndrome",["Cri du chat syndrome","Deletion 5p"]],[282,"Frontotemporal dementia",["FTD"]],[283,"Demodicidosis",["Demodicosis"]],[284,"Alveolar echinococcosis",["Echinococcus multilocularis infection"]],[285,"Hypermobile Ehlers-Danlos syndrome",["EDS III","EDS-HT","Ehlers-Danlos syndrome hypermobility type","Ehlers-Danlos syndrome type 3","Hypermobile EDS","hEDS"]],[286,"Vascular Ehlers-Danlos syndrome",["Arterial-ecchymotic EDS","EDS IV","Ehlers-Danlos syndrome type 4","Sack-Barabas syndrome","Vascular EDS","vEDS"]],[287,"Classical Ehlers-Danlos syndrome",["Classical EDS","cEDS"]],[288,"Hereditary elliptocytosis",["HE"]],[289,"Ellis-Van Creveld syndrome",["Chondroectodermal dysplasia","Mesodermic dysplasia"]],[290,"Congenital rubella syndrome",["CRS","Fetal rubella syndrome","Mother-to-child transmission of rubella syndrome"]],[291,"Congenital varicella syndrome",["Antenatal varicella virus infection","Mother-to-child transmission of varicella syndrome"]],[292,"Congenital enterovirus infection",["Antenatal enterovirus infection","Mother-to-child transmission of enterovirus infection"]],[293,"Congenital herpes simplex virus infection",["Antenatal herpes simplex virus infection","Mother-to-child transmission of herpes simplex virus infection"]],[294,"Fetal cytomegalovirus syndrome",["Antenatal CMV infection","Antenatal cytomegalovirus infection","Mother-to-child transmission of cytomegalovirus syndrome"]],[295,"Fetal parvovirus syndrome",["Mother-to-child transmission of parvovirus syndrome","Parvovirus antenatal infection"]],[296,"Ollier disease",["Enchondromatosis Spranger type I","Multiple Enchondromatosis type I","Multiple Enchondromatosis, Ollier type"]],[297,"Tick-borne encephalitis",["TBE"]],[298,"Mitochondrial neurogastrointestinal encephalomyopathy",["MNGIE"]],[300,"Bifunctional enzyme deficiency"],[301,"Ependymal tumor"],[302,"Inherited epidermodysplasia verruciformis",["Lewandowsky-Lutz syndrome","Lutz-Lewandowsky epidermodysplasia verruciformis"]],[303,"Dystrophic epidermolysis bullosa",["DEB","Dermolytic epidermolysis bullosa","Epidermolysis bullosa dystrophica"]],[304,"Epidermolysis bullosa simplex",["EBS"]],[305,"Junctional epidermolysis bullosa",["Epidermolysis bullosa atrophicans","JEB"]],[306,"Self-limited infantile epilepsy",["BFIE","BFIS","Benign familial infantile convulsions","Benign familial infantile epilepsy","Benign familial infantile seizures","SeLIE"]],[307,"Juvenile myoclonic epilepsy",["JME","Juvenile myoclonus epilepsy"]],[308,"Progressive myoclonic epilepsy type 1",["EPM1","Progressive myoclonus epilepsy type 1","ULD","Unverricht-Lundborg disease"]],[309,"OBSOLETE: Familial partial epilepsy"],[310,"Reflex epilepsy"],[312,"Autosomal dominant epidermolytic ichthyosis",["BCIE","Bullous congenital ichthyosiform erythroderma","Bullous congenital ichthyosiform erythroderma of Brock","Bullous ichthyosis","EHK","EI","Epidermolytic hyperkeratosis","Ichthyosis hystrix Brocq type"]],[313,"Lamellar ichthyosis",["LI"]],[314,"Erythroderma desquamativum",["Leiner disease"]],[315,"Erythrokeratoderma ''en cocardes''",["Degos genodermatosis \"en cocardes\""]],[316,"Progressive symmetric erythrokeratodermia",["Darier-Gottron disease","Erythrokeratodermia progressiva symmetrica","Progressive symmetric erythrokeratodermia, Gottron type"]],[317,"Erythrokeratodermia variabilis",["EKV","Erythrokeratodermia variabilis, Mendes da Costa type"]],[318,"Acute erythroid leukemia",["AML M6","Acute myeloid leukemia M6","Erythroleukemia"]],[319,"Skeletal Ewing sarcoma",["Osseous Ewing sarcoma"]],[320,"Apparent mineralocorticoid excess",["11-beta-hydroxysteroid dehydrogenase deficiency type 2","Ulick syndrome"]],[321,"Multiple osteochondromas",["Bessel-Hagen disease","Multiple cartilaginous exostoses"]],[322,"Exstrophy-epispadias complex",["BEEC","Bladder exstrophy-epispadias-cloacal extrophy complex","EEC"]],[323,"NON RARE IN EUROPE: FG syndrome phenotypic spectrum"],[324,"Fabry disease",["Alpha-galactosidase A deficiency","Anderson-Fabry disease","FD"]],[325,"Congenital factor II deficiency",["Dysprothrombinemia","Hypoprothrombinemia","Prothrombin deficiency"]],[326,"Congenital factor V deficiency",["Owren disease","Parahemophilia","Proaccelerin deficiency"]],[327,"Congenital factor VII deficiency",["Congenital proconvertin deficiency","Hypoproconvertinemia"]],[328,"Congenital factor X deficiency",["Congenital Stuart factor deficiency","Stuart-Prower factor deficiency"]],[329,"Congenital factor XI deficiency",["Hemophilia C","PTA deficiency","Plasma thromboplastin antecedent deficiency","Rosenthal factor deficiency","Rosenthal syndrome"]],[330,"Congenital factor XII deficiency",["Congenital Hageman factor deficiency"]],[331,"Congenital factor XIII deficiency",["Fibrin-stabilizing factor deficiency"]],[332,"Congenital intrinsic factor deficiency",["Congenital pernicious anemia","Gastric intrinsic factor deficiency","Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency","IFD","Intrinsic factor deficiency"]],[333,"Farber disease",["Acid ceramidase deficiency","Farber lipogranulomatosis"]],[334,"Hereditary atrial fibrillation"],[335,"Congenital fibrinogen deficiency"],[336,"NON RARE IN EUROPE: Fibromuscular dysplasia of arteries"],[337,"Fibrodysplasia ossificans progressiva",["FOP","Myositis ossificans progressiva","Stone man syndrome"]],[338,"Familial multiple fibrofolliculoma"],[340,"Hemorrhagic fever-renal syndrome",["Hantavirosis","Hantavirus fever"]],[341,"Viral hemorrhagic fever"],[342,"Familial Mediterranean fever",["Benign paroxysmal peritonitis","Benign recurrent polyserositis","FMF","Familial paroxysmal polyserositis","Periodic disease"]],[343,"Hyperimmunoglobulinemia D with periodic fever",["HIDS","Hyper-IgD syndrome","Hyperimmunoglobinemia D with recurrent fever","Hyperimmunoglobulinemia D syndrome","Partial mevalonate kinase deficiency"]],[344,"OBSOLETE: Arbovirus fever"],[345,"Dissecting cellulitis of the scalp"],[346,"Quinquaud folliculitis decalvans"],[347,"Frasier syndrome"],[348,"Fructose-1,6-bisphosphatase deficiency",["FBPase deficiency","Fructose-1,6-diphosphatase deficiency"]],[349,"Fucosidosis",["Alpha-L-fucosidase deficiency"]],[351,"Galactosialidosis",["Goldberg syndrome","Neuraminidase deficiency with beta-galactosidase deficiency"]],[352,"Galactosemia"],[353,"Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5",["Autosomal recessive limb-girdle muscular dystrophy type 2C","Gamma-sarcoglycan-related LGMD R5","Gamma-sarcoglycanopathy","LGMD due to gamma-sarcoglycan deficiency","LGMD type 2C","LGMD2C","Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2C"]],[354,"GM1 gangliosidosis",["Beta-galactosidase-1 deficiency","GLB1 deficiency","Landing disease"]],[355,"Gaucher disease",["Acid beta-glucosidase deficiency","Glucocerebrosidase deficiency"]],[356,"Gerstmann-Straussler-Scheinker syndrome",["Subacute spongiform encephalopathy, Gerstmann-Straussler type"]],[357,"NON RARE IN EUROPE: Gilbert syndrome",["NON RARE IN EUROPE: Familial cholemia","NON RARE IN EUROPE: Hyperbilirubinemia type 1"]],[358,"Gitelman syndrome"],[359,"Pediatric-onset glaucoma of genetic origin",["Hereditary glaucoma"]],[360,"Glioblastoma",["GBM","Glioblastoma multiforme"]],[361,"Familial glucocorticoid deficiency"],[362,"NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency",["NON RARE IN EUROPE: Favism","NON RARE IN EUROPE: G6PD deficiency"]],[364,"Glycogen storage disease due to glucose-6-phosphatase deficiency",["G6P deficiency","GSD due to G6P deficiency","GSD type 1","GSD type I","Glycogen storage disease due to G6P deficiency","Glycogen storage disease type 1","Glycogen storage disease type I","Glycogenosis type 1","Glycogenosis type I","Hepatorenal glycogenosis","Von Gierke disease"]],[365,"Glycogen storage disease due to acid maltase deficiency",["Alpha-1,4-glucosidase acid deficiency","GSD due to acid maltase deficiency","GSD type 2","GSD type II","Glycogen storage disease type 2","Glycogen storage disease type II","Glycogenosis due to acid maltase deficiency","Glycogenosis type 2","Glycogenosis type II","Pompe disease"]],[366,"Glycogen storage disease due to glycogen debranching enzyme deficiency",["Amylo-1,6-glucosidase deficiency","Cori disease","Cori-Forbes disease","Forbes disease","GDE deficiency","GSD due to glycogen debranching enzyme deficiency","GSD type 3","GSDIII","Glycogen storage disease type 3","Glycogen storage disease type III","Glycogenosis due to glycogen debranching enzyme deficiency","Glycogenosis type 3","Glycogenosis type III","Limit dextrinosis"]],[367,"Glycogen storage disease due to glycogen branching enzyme deficiency",["Amylopectinosis","Andersen disease","GSD due to glycogen branching enzyme deficiency","GSD type 4","GSD type IV","Glycogen storage disease type 4","Glycogen storage disease type IV","Glycogenosis due to glycogen branching enzyme deficiency","Glycogenosis type 4","Glycogenosis type IV"]],[368,"Glycogen storage disease due to muscle glycogen phosphorylase deficiency",["GSD due to muscle glycogen phosphorylase deficiency","GSD type 5","GSD type V","Glycogen storage disease type 5","Glycogen storage disease type V","Glycogenosis due to muscle glycogen phosphorylase deficiency","Glycogenosis type 5","Glycogenosis type V","McArdle disease","Myophosphorylase deficiency"]],[369,"Glycogen storage disease due to liver glycogen phosphorylase deficiency",["GSD due to liver glycogen phosphorylase deficiency","GSD type 6","GSD type VI","Glycogen storage disease type 6","Glycogen storage disease type VI","Glycogenosis due to liver glycogen phosphorylase deficiency","Glycogenosis type 6","Glycogenosis type VI","Hepatic glycogen phosphorylase deficiency","Hepatic phosphorylase deficiency","Hers disease","Liver glycogen phosphorylase deficiency"]],[370,"Glycogen storage disease due to phosphorylase kinase deficiency",["GSD due to phosphorylase kinase deficiency","GSD type 9","GSD type IX","Glycogen storage disease due to PhK deficiency","Glycogen storage disease type 9","Glycogen storage disease type IX","Glycogenosis due to phosphorylase kinase deficiency","Glycogenosis type 9","Glycogenosis type IX","Gycogenosis due to PhK deficiency"]],[371,"Glycogen storage disease due to muscle phosphofructokinase deficiency",["GSD due to muscle phosphofructokinase deficiency","GSD type 7","GSD type VII","Glycogen storage disease type 7","Glycogen storage disease type VII","Glycogenosis due to muscle phosphofructokinase deficiency","Glycogenosis type 7","Glycogenosis type VII","Tarui disease"]],[373,"Simpson-Golabi-Behmel syndrome",["DGSX","Golabi-Rosen syndrome","SDYS","SGBS","SGBS1","Simpson dysmorphia syndrome","Simpson-Golabi-Behmel syndrome type 1","X-linked dysplasia gigantism syndrome"]],[374,"Goldenhar syndrome",["Facioauriculovertebral sequence"]],[375,"Anti-glomerular basement membrane disease",["Anti-GBM syndrome"]],[376,"Gordon syndrome",["Camptodactyly-cleft palate-clubfoot syndrome","Distal arthrogryposis type 3","Distal arthrogryposis type IIA"]],[377,"Gorlin syndrome",["Basal cell nevus syndrome","Gorlin-Goltz syndrome","NBCCS","Nevoid basal cell carcinoma syndrome"]],[378,"NON RARE IN EUROPE: Sjögren syndrome",["NON RARE IN EUROPE: Sicca syndrome","NON RARE IN EUROPE: Sjögren-Gougerot syndrome"]],[379,"Chronic granulomatous disease",["CGD","Chronic septic granulomatosis"]],[380,"Greig cephalopolysyndactyly syndrome",["GCPS"]],[381,"Griscelli syndrome",["Chédiak-Higashi-like syndrome","Griscelli-Pruniéras syndrome","Partial albinism-immunodeficiency syndrome"]],[382,"Guanidinoacetate methyltransferase deficiency",["GAMT deficiency"]],[383,"X-linked mixed deafness with perilymphatic gusher",["Conductive deafness with stapes fixation","Nance deafness","X-linked mixed conductive and neurosensory deafness","X-linked mixed conductive and neurosensory hearing loss","X-linked mixed conductive and sensorineural deafness","X-linked mixed conductive and sensorineural hearing loss","X-linked stapes gusher syndrome"]],[384,"Huriez syndrome",["Palmoplantar hyperkeratosis-sclerodactyly syndrome","Palmoplantar keratoderma-sclerodactyly syndrome","Scleroatrophic syndrome","Sclerotylosis"]],[385,"Neurodegeneration with brain iron accumulation",["NBIA"]],[386,"Hepatic cystic hamartoma",["Biliary hamartoma","MHL","Mesenchymal hamartoma of liver","VMC","Von Meyenburg complexes disease"]],[387,"NON RARE IN EUROPE: Hidradenitis suppurativa",["NON RARE IN EUROPE: Acne inversa","NON RARE IN EUROPE: Ectopic acne","NON RARE IN EUROPE: Fox den disease","NON RARE IN EUROPE: Pyoderma fistulans significa","NON RARE IN EUROPE: Verneuil disease"]],[388,"Hirschsprung disease",["Aganglionic megacolon","Colonic aganglionosis","Congenital intestinal aganglionosis","HSCR"]],[389,"Langerhans cell histiocytosis",["Histiocytosis X","Langerhans cell granulomatosis"]],[390,"Histoplasmosis",["Darling disease"]],[391,"Classic Hodgkin lymphoma",["Classic Hodgkin disease"]],[392,"Holt-Oram syndrome",["Atriodigital dysplasia type 1","HOS","Heart-hand syndrome type 1"]],[393,"46,XX testicular difference of sex development",["46,XX testicular DSD","46,XX testicular disorder of sex development","De la Chapelle syndrome","XX, male syndrome"]],[394,"Homocystinuria due to cystathionine beta-synthase deficiency",["CBS-deficient HCU","Classical homocystinuria","Cystathionine beta-synthase deficiency","Cystathionine beta-synthase-deficient homocystinuria","Homocystinuria due to CBS deficiency"]],[395,"Homocystinuria due to methylene tetrahydrofolate reductase deficiency",["MTHFR deficiency","Methylene tetrahydrofolate reductase deficiency"]],[396,"Chronic hiccup"],[397,"Giant cell arteritis",["Horton disease","Temporal arteritis"]],[399,"Huntington disease",["Huntington chorea"]],[400,"Cystic echinococcosis",["Hydatid cyst","Hydatid disease","Hydatidosis"]],[401,"Hymenolepiasis"],[403,"Familial hyperaldosteronism type I",["Dexamethasone-sensitive hypertension","FH-I","FH1","Familial hyperaldosteronism type 1","GRA","Glucocorticoid-remediable aldosteronism","Glucocorticoid-sensitive hypertension"]],[404,"Familial hyperaldosteronism type II",["FH-II","FH2","Familial hyperaldosteronism type 2"]],[405,"Familial hypocalciuric hypercalcemia",["FBH","FBHH","FHH","Familial benign hypercalcemia","Familial benign hypocalciuric hypercalcemia"]],[406,"NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia",["NON RARE IN EUROPE: HeFH"]],[407,"Glycine encephalopathy",["NKA","Non-ketotic hyperglycinemia"]],[408,"Isolated glycerol kinase deficiency",["Hyperglycerolemia"]],[409,"Hyperkeratosis lenticularis perstans",["Flegel disease"]],[411,"Hyperlipoproteinemia type 1",["HLP type 1"]],[412,"Dysbetalipoproteinemia",["Broad-beta disease","Familial dyslipidemia type 3","HLP type 3","Hyperlipidemia type 3","Hyperlipoproteinemia type 3","Remnant hyperlipoproteinemia"]],[413,"NON RARE IN EUROPE: Hyperlipoproteinemia type 4",["NON RARE IN EUROPE: Familial hypertriglyceridemia","NON RARE IN EUROPE: HLP type 4"]],[414,"Gyrate atrophy of choroid and retina",["HOGA","Hyperornithinemia","Hyperornithinemia-gyrate atrophy of choroid and retina syndrome","Ornithine aminotransferase deficiency"]],[415,"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome",["HHH syndrome","ORNT1 deficiency","Ornithine carrier deficiency","Ornithine translocase deficiency","Triple H syndrome"]],[416,"Primary hyperoxaluria"],[417,"Neonatal severe primary hyperparathyroidism",["NSHPT"]],[418,"Congenital adrenal hyperplasia",["CAH"]],[419,"Hyperprolinemia type 1",["Proline oxidase deficiency"]],[422,"Idiopathic/heritable pulmonary arterial hypertension",["Idiopathic and/or familial pulmonary arterial hypertension"]],[423,"Malignant hyperthermia of anesthesia",["Hyperthermia of anesthesia"]],[424,"Familial hyperthyroidism due to mutations in TSH receptor",["Familial non-immune hyperthyroidism","Resistance to thyroid stimulating hormone"]],[425,"Apolipoprotein A-I deficiency",["ApoA-I deficiency","Familial apoA-I deficiency","Familial hypoalphalipoproteinemia"]],[426,"NON RARE IN EUROPE: Familial hypobetalipoproteinemia"],[427,"Familial hypoaldosteronism"],[428,"Autosomal dominant hypocalcemia",["AD hypocalcemia"]],[429,"Hypochondroplasia"],[430,"OBSOLETE: Hypodermyiasis"],[431,"Ichthyosis-male hypogonadism syndrome"],[432,"Normosmic congenital hypogonadotropic hypogonadism",["Normosmic idiopathic hypogonadotropic hypogonadism","nIHH"]],[435,"OBSOLETE: Ito hypomelanosis",["OBSOLETE: HI syndrome","OBSOLETE: Hypomelanosis of Ito","OBSOLETE: Pigmentary mosaicism, Ito type"]],[436,"Hypophosphatasia",["HPP","Phosphoethanolaminuria","Rathbun disease"]],[437,"Hypophosphatemic rickets"],[439,"Isolated right ventricular hypoplasia"],[440,"OBSOLETE: Familial hypospadias"],[441,"Pure autonomic failure",["Bradbury-Eggleston syndrome","Idiopathic orthostatic hypotension","PAF","Pure dysautonomia","Pure idiopatic dysautonomia"]],[442,"Congenital hypothyroidism"],[444,"Marie Unna hereditary hypotrichosis",["Hypotrichosis, Marie Unna type","MUHH","Marie Unna congenital hypotrichosis"]],[446,"Neonatal hemochromatosis"],[447,"Paroxysmal nocturnal hemoglobinuria",["Marchiafava-Micheli disease","PNH"]],[448,"Hemophilia"],[449,"Hepatoblastoma"],[450,"Visceral heterotaxy",["Heterotaxy","Heterotaxy syndrome"]],[452,"X-linked lissencephaly with abnormal genitalia",["X-linked lissencephaly with ambiguous genitalia","X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome","XLAG (X-linked lissencephaly with abnormal genitalia) syndrome"]],[453,"IBIDS syndrome",["Tay syndrome","Trichothiodystrophy type E","Trichothiodystrophy with congenital ichthyosis"]],[454,"Acquired ichthyosis"],[455,"Superficial epidermolytic ichthyosis",["Ichthyosis bullosa of Siemens","SEI"]],[457,"Harlequin ichthyosis",["Autosomal congenital ichthyosis, Harlequin type","HI","Ichthyosis congenita, Harlequin type"]],[461,"Recessive X-linked ichthyosis",["RXLI","Steroid sulfatase deficiency","X-linked ichthyosis","XLI"]],[462,"NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris"],[463,"NON RARE IN EUROPE: Adrenal incidentaloma"],[464,"Incontinentia pigmenti",["Bloch-Siemens syndrome","Bloch-Sulzberger syndrome"]],[465,"Congenital plasminogen activator inhibitor type 1 deficiency",["Congenital PAI-1 deficiency"]],[466,"Fatal familial insomnia",["FFI"]],[467,"Non-acquired combined pituitary hormone deficiency",["Congenital combined pituitary hormone deficiency","Congenital hypopituitarism"]],[469,"Hereditary fructose intolerance",["Hereditary fructose-1-phosphate aldolase deficiency","Hereditary fructosemia"]],[470,"Lysinuric protein intolerance",["Hyperdibasic aminoaciduria","LPI"]],[472,"Isosporiasis",["Cystoisosporiasis"]],[474,"Jeune syndrome",["Asphyxiating thoracic dystrophy of the newborn","JATD","Jeune asphyxiating thoracic dystrophy"]],[475,"Isolated Joubert syndrome",["CPD IV","Cerebelloparenchymal disorder IV","Classic Joubert syndrome","Joubert syndrome type A","Joubert-Boltshauser syndrome","Pure Joubert syndrome"]],[477,"KID syndrome",["Ichthyosis hystrix Rheydt type","KID/HID syndrome","Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome","Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome","Senter syndrome"]],[478,"Kallmann syndrome",["Congenital hypogonadotropic hypogonadism with anosmia","Olfacto-genital pathological sequence"]],[480,"Kearns-Sayre syndrome"],[481,"Kennedy disease",["SBMA","SMAX1","X-linked BSMA","X-linked bulbospinal amyotrophy","X-linked bulbospinal muscular atrophy","X-linked spinal and bulbar muscular atrophy"]],[482,"Kimura disease",["Eosinophilic lymphogranuloma"]],[483,"Congenital high-molecular-weight kininogen deficiency"],[484,"NON RARE IN EUROPE: Klinefelter syndrome",["NON RARE IN EUROPE: 47,XXY syndrome"]],[485,"Kniest dysplasia"],[486,"Autosomal dominant severe congenital neutropenia"],[487,"Krabbe disease",["GALC deficiency","Galactocerebrosidase deficiency","Galactosylceramidase deficiency","Globoid cell leukodystrophy"]],[488,"Urachal cyst"],[489,"NON RARE IN EUROPE: Thyroglossal duct cyst",["NON RARE IN EUROPE: Thyroglossal tract cyst"]],[490,"Omphalomesenteric cyst"],[492,"Proliferating trichilemmal cyst"],[493,"Familial keratoacanthoma",["Hereditary keratoacanthoma","Multiple keratoacanthoma"]],[494,"Keratoderma hereditarium mutilans",["Mutilating keratoderma of Vohwinkel","Mutilating keratoderma plus deafness","Mutilating keratoderma plus hearing loss","PPK mutilans and deafness","PPK mutilans and hearing loss","Vohwinkel syndrome"]],[495,"Transgrediens et progrediens palmoplantar keratoderma",["Greither disease","Keratosis extremitatum hereditaria progrediens","Keratosis palmoplantaris transgrediens et progrediens","Progressive diffuse PPK","Progressive diffuse palmoplantar keratoderma","Transgrediens et progrediens PPK"]],[496,"Thost-Unna palmoplantar keratoderma"],[498,"Keratosis pilaris atrophicans"],[499,"Kerion celsi"],[500,"Noonan syndrome with multiple lentigines",["Cardiomyopathic lentiginosis","Familial multiple lentigines syndrome","LEOPARD syndrome"]],[501,"Lafora disease",["EPM2","PME type 2","Progressive myoclonic epilepsy type 2","Progressive myoclonus epilepsy type 2"]],[502,"Trichorhinophalangeal syndrome type 2",["Langer-Giedion syndrome"]],[503,"Larsen syndrome"],[504,"Creeping myiasis",["Migratory myiasis"]],[505,"Graham Little-Piccardi-Lassueur syndrome",["Graham Little syndrome","Piccardi-Lassueur-Little syndrome"]],[506,"Leigh syndrome",["Infantile subacute necrotizing encephalopathy","Leigh disease"]],[507,"Leishmaniasis"],[508,"Donohue syndrome"],[509,"Leptospirosis"],[510,"Lesch-Nyhan syndrome",["HPRT complete deficiency","HPRT deficiency grade IV","Hypoxanthine guanine phosphoribosyltransferase complete deficiency","Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV"]],[511,"Maple syrup urine disease",["BCKD deficiency","BCKDH deficiency","Branched-chain 2-ketoacid dehydrogenase deficiency","Branched-chain ketoaciduria","MSUD"]],[512,"Metachromatic leukodystrophy",["Arylsulfatase A deficiency","MLD"]],[513,"Acute lymphoblastic leukemia",["ALL","Acute lymphoblastic leukemia/lymphoma","Acute lymphocytic leukemia","Precursor lymphoid neoplasm"]],[514,"Acute monoblastic/monocytic leukemia",["AML M5","Acute monoblastic or monocytic leukemia"]],[517,"Acute myelomonocytic leukemia",["AML M4","AMMoL"]],[518,"Acute megakaryoblastic leukemia",["AMKL","AML M7","Acute megakaryocytic leukemia","Acute myeloid leukemia M7"]],[519,"Acute myeloid leukemia",["AML","Acute myelogenous leukemia"]],[520,"Acute promyelocytic leukemia",["AML M3","AML with t(15;17)(q22;q12);(PML/RARalpha) and variants","APML","Acute myeloblastic leukemia 3","Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants"]],[521,"Chronic myeloid leukemia",["CML","Chronic granulocytic leukemia","Chronic myelogenous leukemia"]],[523,"Hereditary leiomyomatosis and renal cell cancer",["Familial leiomyomatosis and renal cell cancer","Familial leiomyomatosis cutis et uteri","Familial leiomyomatosis with renal carcinoma","Familial multiple cutaneous leiomyomas","HLRCC","Hereditary leiomyomatosis","Hereditary leiomyomatosis with renal carcinoma","Hereditary multiple cutaneous leiomyomas","MCUL","Multiple cutaneous and uterine leiomyomas","Reed syndrome"]],[524,"Li-Fraumeni syndrome"],[525,"Lichen planopilaris",["Follicular lichen planus","LPP","Lichen follicularis","Lichen planus follicularis"]],[526,"Liddle syndrome",["Pseudoaldosteronism"]],[528,"Congenital generalized lipodystrophy",["BSCL","Berardinelli-Seip congenital lipodystrophy","Berardinelli-Seip syndrome","CGL"]],[529,"Roch-Leri mesosomatous lipomatosis"],[530,"Lipoid proteinosis",["Hyalinosis cutis et mucosae","Urbach-Wiethe disease"]],[531,"Miller-Dieker syndrome",["Lissencephaly due to 17p13.3 deletion","Monosomy 17p13.3","Telomeric deletion 17p"]],[533,"Listeriosis",["Listeria infection"]],[534,"Oculocerebrorenal syndrome of Lowe",["Lowe disease","Lowe oculo-cerebro-renal dystrophy","Lowe oculo-cerebro-renal syndrome","Lowe oculocerebrorenal dystrophy","Lowe syndrome","OCRL"]],[535,"Rare cutaneous lupus erythematosus"],[536,"Systemic lupus erythematosus",["Disseminated lupus erythematosus","SLE"]],[537,"Toxic epidermal necrolysis",["Lyell syndrome"]],[538,"Lymphangioleiomyomatosis",["LAM"]],[540,"Familial hemophagocytic lymphohistiocytosis",["Familial HLH"]],[541,"Primary cutaneous CD30+ T-cell lymphoproliferative disease",["Primary cutaneous Ki-1+ T-cell lymphoproliferative disease"]],[542,"Primary cutaneous lymphoma"],[543,"Burkitt lymphoma",["Small non-cleaved cell lymphoma"]],[544,"Diffuse large B-cell lymphoma",["DLBCL"]],[545,"Follicular lymphoma"],[547,"Non-Hodgkin lymphoma",["NHL"]],[548,"Leprosy"],[549,"Legionnaires disease"],[550,"MELAS",["Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes","Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes","Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes"]],[551,"MERRF",["Fukuhara syndrome","Myoclonus epilepsy associated with ragged-red fibres"]],[552,"MODY",["Maturity-onset diabetes of the young"]],[553,"OBSOLETE: Cushing syndrome",["OBSOLETE: Hyperadrenocorticism","OBSOLETE: Hypercortisolism"]],[555,"NON RARE IN EUROPE: Celiac disease",["NON RARE IN EUROPE: Celiac sprue","NON RARE IN EUROPE: Coeliac disease","NON RARE IN EUROPE: Coeliac sprue","NON RARE IN EUROPE: Gluten intolerance","NON RARE IN EUROPE: Gluten-induced enteropathy","NON RARE IN EUROPE: Gluten-sensitive enteropathy","NON RARE IN EUROPE: Idiopathic steatorrhea","NON RARE IN EUROPE: Nontropical sprue"]],[556,"Malakoplakia"],[557,"Non-syndromic anorectal malformation",["Non-syndromic ARM"]],[558,"Marfan syndrome",["MFS"]],[559,"Marinesco-Sjögren syndrome"],[560,"Marshall syndrome"],[561,"Marshall-Smith syndrome",["Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome"]],[562,"McCune-Albright syndrome"],[563,"Peripartum cardiomyopathy",["Postpartum cardiomyopathy"]],[564,"Meckel syndrome",["Dysencephalia splanchnocystica","Meckel-Gruber syndrome"]],[565,"Menkes disease",["MD","Menkes kinky hair disease","Menkes syndrome"]],[566,"Congenital microcoria",["Congenital miosis"]],[567,"22q11.2 deletion syndrome",["22q11DS","CATCH 22","Cayler cardiofacial syndrome","Conotruncal anomaly face syndrome","DiGeorge sequence","DiGeorge syndrome","Microdeletion 22q11.2","Monosomy 22q11","Sedlackova syndrome","Shprintzen syndrome","Takao syndrome","Velocardiofacial syndrome"]],[568,"Microphthalmia, Lenz type",["Lenz microphthalmia"]],[569,"Familial or sporadic hemiplegic migraine"],[570,"Moebius syndrome",["Möbius syndrome"]],[572,"Immunodeficiency by defective expression of MHC class II",["Bare lymphocyte syndrome type 2","MHC class II deficiency"]],[573,"Monilethrix",["Moniliform hair syndrome"]],[574,"21q deletion syndrome",["21q- syndrome","Partial 21q monosomy"]],[575,"Muckle-Wells syndrome",["Neutrophilic urticaria"]],[576,"Mucolipidosis type II",["I-cell disease","Mucolipidosis type II alpha/beta","N-acetylglucosamine 1-phosphotransferase deficiency"]],[577,"Mucolipidosis type III",["Pseudo-Hurler polydystrophy"]],[578,"Mucolipidosis type IV"],[579,"Mucopolysaccharidosis type 1",["Alpha-L-iduronidase deficiency","MPS1","MPSI","Mucopolysaccharidosis type I"]],[580,"Mucopolysaccharidosis type 2",["Hunter syndrome","Iduronate 2-sulfatase deficiency","MPS2","MPSII","Mucopolysaccharidosis type II"]],[581,"Mucopolysaccharidosis type 3",["MPS3","MPSIII","Mucopolysaccharidosis type III","Sanfilippo disease","Sanfilippo syndrome"]],[582,"Mucopolysaccharidosis type 4",["MPS4","MPSIV","Morquio disease","Mucopolysaccharidosis type IV"]],[583,"Mucopolysaccharidosis type 6",["ARSB deficiency","ASB deficiency","Arylsulfatase B deficiency","MPS6","MPSVI","Maroteaux-Lamy disease","Mucopolysaccharidosis type VI","N-acetylgalactosamine 4-sulfatase deficiency"]],[584,"Mucopolysaccharidosis type 7",["Beta-glucuronidase deficiency","MPS7","MPSVII","Mucopolysaccharidosis type VII","Sly disease"]],[585,"Multiple sulfatase deficiency",["Austin disease","MSD","Mucosulfatidosis"]],[586,"Cystic fibrosis",["CF","Mucoviscidosis"]],[587,"Muir-Torre syndrome",["Multiple keratoacanthoma, Muir-Torre type"]],[588,"Muscle-eye-brain disease",["MEB syndrome","Muscle-eye-brain syndrome","Santavuori congenital muscular dystrophy"]],[589,"Myasthenia gravis",["Acquired myasthenia","Autoimmune myasthenia gravis"]],[590,"Congenital myasthenic syndrome",["CMS"]],[591,"Furuncular myiasis",["Furunculoid myiasis","Furunculous myiasis"]],[592,"Macrophagic myofasciitis",["MMF"]],[593,"Myofibrillar myopathy",["MFM"]],[595,"Centronuclear myopathy",["CNM"]],[596,"X-linked centronuclear myopathy",["X-linked myotubular myopathy","XLCNM","XLMTM"]],[597,"Central core disease"],[598,"Multiminicore myopathy",["MmD","Multiminicore disease"]],[599,"Distal myopathy",["Distal muscular dystrophy"]],[600,"Vocal cord and pharyngeal distal myopathy",["Distal myopathy with vocal cord weakness","MATR3-related distal myopathy","VCPDM"]],[602,"GNE myopathy",["DMRV","Distal myopathy with rimmed vacuoles","Distal myopathy, Nonaka type","HIBM2","Hereditary inclusion body myopathy type 2","IBM2","Inclusion body myopathy type 2","Nonaka myopathy","Quadriceps-sparing myopathy"]],[603,"Distal myopathy, Welander type",["WDM"]],[606,"Proximal myotonic myopathy",["Myotonic dystrophy type 2","Proximal myotonic dystrophy","Ricker disease","Ricker syndrome"]],[607,"Nemaline myopathy",["NEM","NM","Nemaline rod myopathy"]],[609,"Tibial muscular dystrophy",["Finnish tibial muscular dystrophy","TMD","Udd myopathy","Distal myopathy, Udd type","Distal titinopathy"]],[610,"Bethlem muscular dystrophy",["Bethlem myopathy","LGMD D5 collagen 6-related dystrophy","LGMD D5 collagen VI-related dystrophy","LGMD R22 collagen 6-related dystrophy","LGMD R22 collagen VI-related dystrophy","Mild form of COL6-related dystrophy","Mild form of collagen VI-related dystrophy"]],[611,"Inclusion body myositis",["IBM","Sporadic inclusion body myositis","sIBM"]],[612,"Potassium-aggravated myotonia",["K+-aggravated myotonia","K-aggravated myotonia","PAM"]],[614,"Thomsen and Becker disease",["Myotonia congenita"]],[615,"Familial atrial myxoma"],[616,"Medulloblastoma"],[617,"Congenital primary megaureter",["Congenital primary megalo-ureter"]],[618,"Familial melanoma"],[619,"NON RARE IN EUROPE: Primary ovarian failure",["NON RARE IN EUROPE: Hypergonadotropic ovarian failure","NON RARE IN EUROPE: Premature menopause","NON RARE IN EUROPE: Premature ovarian failure","NON RARE IN EUROPE: Premature ovarian insufficiency","NON RARE IN EUROPE: Primary ovarian insufficiency"]],[620,"NON RARE IN EUROPE: Common mesentery",["NON RARE IN EUROPE: Universal mesentery"]],[621,"Autosomal recessive methemoglobinemia"],[622,"Homocystinuria without methylmalonic aciduria",["Functional methionine synthase deficiency","Methylcobalamin deficiency"]],[623,"NAME syndrome",["Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome"]],[624,"Familial multiple nevi flammei",["Familial multiple port-wine stains"]],[625,"NON RARE IN EUROPE: Atypical mole",["NON RARE IN EUROPE: Clark nevus","NON RARE IN EUROPE: Dysplastic nevus"]],[626,"Large/giant congenital melanocytic nevus",["LGCMN","Large/giant CMN syndrome","Large/giant congenital pigmented nevus"]],[627,"Nance-Horan syndrome"],[628,"Diastrophic dysplasia",["Diastrophic dwarfism"]],[629,"Short stature due to growth hormone qualitative anomaly",["Kowarski syndrome"]],[631,"Non-acquired isolated growth hormone deficiency",["Congenital IGHD","Congenital isolated GH deficiency","Congenital isolated growth hormone deficiency"]],[632,"Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"],[633,"Laron syndrome",["Complete growth hormone insensitivity","GH receptor deficiency","Growth hormone receptor deficiency","Laron-type dwarfism","Primary GH insensitivity","Primary GH resistance","Primary growth hormone insensitivity","Primary growth hormone resistance","Short stature due to growth hormone resistance"]],[634,"Netherton syndrome",["Bamboo hair syndrome","Comèl-Netherton syndrome","NS"]],[635,"Neuroblastoma"],[636,"Neurofibromatosis type 1",["Nonmosaic NF1","Nonmosaic neurofibromatosis type 1","Von Recklinghausen disease"]],[637,"Full NF2-related schwannomatosis",["Full NF2","Full neurofibromatosis type 2","Nonmosaic NF2-related schwannomatosis","Nonmosaic neurofibromatosis type 2"]],[638,"Neurofibromatosis-Noonan syndrome",["NFNS","Neurofibromatosis type 1-Noonan syndrome"]],[639,"Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG",["Anti-MAG neuropathy","Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein"]],[640,"Hereditary neuropathy with liability to pressure palsies",["Current pressure-sensitive neuropathy","HNPP","Heterozygous microdeletion 17p11.2p12","Potato-grubbing palsy","Tomaculous neuropathy","Tulip-bulb digger's palsy"]],[641,"Multifocal motor neuropathy",["MMN","MMNCB","Multifocal motor neuropathy with conduction block"]],[642,"Hereditary sensory and autonomic neuropathy type 4",["CIPA","Congenital insensitivity to pain with anhidrosis","HSAN4","Hereditary sensory and autonomic neuropathy type IV"]],[643,"Giant axonal neuropathy",["GAN"]],[644,"NARP syndrome",["Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome","Neuropathy-ataxia-retinitis pigmentosa syndrome"]],[646,"Niemann-Pick disease type C"],[647,"Nijmegen breakage syndrome",["AT V1","Ataxia-telangiectasia, variant 1","Berlin breakage syndrome","Immunodeficiency-microcephaly-chromosomal instability syndrome","Microcephaly-immunodeficiency-lymphoid malignancy syndrome","NBS","Seemanova syndrome type 2"]],[648,"Noonan syndrome"],[649,"Norrie disease",["Atrophia bulborum hereditaria","Episkopi blindness","Norrie-Warburg disease"]],[650,"LCAT deficiency",["Lecithin-cholesterol acyltransferase deficiency"]],[651,"NON RARE IN EUROPE: Idiopathic infantile nystagmus",["NON RARE IN EUROPE: Congenital idiopathic nystagmus","NON RARE IN EUROPE: Infantile nystagmus syndrome","NON RARE IN EUROPE: Motor congenital nystagmus"]],[652,"Multiple endocrine neoplasia type 1",["MEN1","Wermer syndrome"]],[653,"Multiple endocrine neoplasia type 2",["MEN2"]],[654,"Nephroblastoma",["Renal embryonic tumor","Wilms tumor"]],[655,"Nephronophthisis"],[656,"Hereditary steroid-resistant nephrotic syndrome",["Familial idiopathic steroid-resistant nephrotic syndrome","Genetic FSGS","Genetic SRNS","Hereditary SRNS","Isolated SRNS","Monogenic SRNS"]],[657,"Congenital isolated hyperinsulinism",["PHHI","Persistent hyperinsulinemic hypoglycemia of infancy"]],[658,"Non-histaminic angioedema",["Angioneurotic edema","Bradykinine-induced angioedema","Non histamine-induced angioedema"]],[659,"Mutilating palmoplantar keratoderma with periorificial keratotic plaques",["Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques","Olmsted syndrome","Palmoplantar and periorificial keratoderma"]],[660,"Omphalocele"],[661,"Congenital central hypoventilation syndrome",["Ondine curse","Ondine syndrome","CCHS","Congenital central alveolar hypoventilation syndrome"]],[662,"Lymphedema with yellow nails",["YNS","Yellow nail syndrome"]],[663,"Mitochondrial DNA-related progressive external ophthalmoplegia",["Maternally-inherited CPEO","Maternally-inherited chronic progressive external ophthalmoplegia","mtDNA-related progressive external ophthalmoplegia"]],[664,"Ornithine transcarbamylase deficiency",["OCT deficiency","OTC deficiency","Ornithine carbamoyltransferase deficiency"]],[665,"Albright hereditary osteodystrophy"],[666,"Osteogenesis imperfecta",["OI","Brittle bone disease","Glass bone disease","Lobstein disease"]],[667,"Autosomal recessive malignant osteopetrosis",["Infantile malignant osteopetrosis"]],[668,"Osteosarcoma",["Osteogenic sarcoma"]],[669,"OBSOLETE: Otopalatodigital syndrome"],[670,"PIBIDS syndrome",["Trichothiodystrophy type F","Trichothiodystrophy-sun sensitivity syndrome"]],[671,"Primary cutis verticis gyrata"],[672,"Pallister-Hall syndrome",["Hypothalamic hamartoblastoma syndrome"]],[673,"Malaria"],[674,"Accessory pancreas"],[675,"Annular pancreas"],[676,"Autosomal dominant hereditary chronic pancreatitis"],[677,"Pancreatoblastoma"],[678,"Papillon-Lefèvre syndrome",["Keratosis palmoplantar-periodontopathy syndrome","PLS"]],[679,"Malignant atrophic papulosis",["Cutaneo-muco-intestinal syndrome","MAP","Papulosis atrophicans maligna"]],[680,"Normokalemic periodic paralysis",["NormoKPP","NormoPP","Normokalemic PP","Periodic paralysis type 3","Potassium-sensitive normokalemic periodic paralysis"]],[681,"Hypokalemic periodic paralysis",["Westphall disease"]],[682,"Hyperkalemic periodic paralysis",["Adynamia episodica hereditaria","Familial hyperPP","Familial hyperkalemic periodic paralysis","Gamstorp disease","Gamstorp episodic adynamy","HYPP","HyperKPP","HyperPP","Hyperkalemic PP","Primary hyperPP","Primary hyperkalemic periodic paralysis"]],[683,"Progressive supranuclear palsy",["PSP syndrome"]],[684,"Paramyotonia congenita of Von Eulenburg",["Paramyotonia congenita"]],[685,"Hereditary spastic paraplegia",["Hereditary spastic paraparesis","SPG","Strümpell-Lorrain disease","Familial spastic paraplegia","HSP"]],[699,"Pearson syndrome",["PMPS","Pearson marrow-pancreas syndrome"]],[700,"Alopecia totalis"],[701,"Alopecia universalis"],[702,"Pelizaeus-Merzbacher disease",["Diffuse familial brain sclerosis","PMD","Pelizaeus-Merzbacher brain sclerosis","Sudanophilic leukodystrophy, Paelizeus-Merzbacher type"]],[703,"Bullous pemphigoid"],[704,"Pemphigus vulgaris"],[705,"Pendred syndrome",["Goiter-deafness syndrome","Goiter-hearing loss syndrome"]],[706,"NON RARE IN EUROPE: Patent arterial duct",["NON RARE IN EUROPE: Persistent patency of the arterial duct","NON RARE IN EUROPE: Patent ductus arteriosus"]],[707,"Plague",["Y. pestis infection","Yersinia pestis infection"]],[708,"Peters anomaly",["Peters congenital glaucoma"]],[709,"Peters plus syndrome",["Krause-Kivlin syndrome","Krause-van Schooneveld-Kivlin syndrome","Peters anomaly with short limb dwarfism"]],[710,"Pfeiffer syndrome",["ACS5","Acrocephalosyndactyly type 5"]],[711,"Glycogen storage disease due to phosphoglucomutase deficiency",["GSD due to phosphoglucomutase deficiency","GSD type 14","GSDXIV","Glycogen storage disease type 14","Glycogen storage disease type XIV","Glycogenosis due to phosphoglucomutase deficiency","Glycogenosis type 14","Glycogenosis type XIV","Phosphoglucomutase 1 deficiency"]],[712,"Hemolytic anemia due to glucophosphate isomerase deficiency",["GPI deficiency","Glucose-6-phosphate isomerase deficiency"]],[713,"Glycogen storage disease due to phosphoglycerate kinase 1 deficiency",["GSD due to phosphoglycerate kinase 1 deficiency","Glycogenosis due to phosphoglycerate kinase 1 deficiency"]],[714,"Hemolytic anemia due to diphosphoglycerate mutase deficiency"],[715,"Glycogen storage disease due to muscle phosphorylase kinase deficiency",["GSD due to muscle phosphorylase kinase deficiency","GSD type 9D","GSD type 9E","GSD type IXd","GSD type IXe","Glycogen storage disease type 9D","Glycogen storage disease type 9E","Glycogen storage disease type IXd","Glycogen storage disease type IXe","Glycogenosis due to muscle phosphorylase kinase deficiency","Glycogenosis type 9D","Glycogenosis type 9E","Glycogenosis type IXd","Glycogenosis type IXe"]],[716,"Phenylketonuria",["PKU"]],[717,"OBSOLETE: Catecholamine-producing tumor"],[718,"Isolated Pierre Robin sequence",["PRS"]],[719,"OBSOLETE: Pili canulati"],[720,"Pili bifurcati"],[721,"Gray platelet syndrome",["Alpha storage pool deficiency","GPS","Platelet alpha-granule deficiency"]],[722,"Hypoplasminogenemia",["Plasminogen deficiency type 1"]],[723,"Pneumocystosis"],[724,"Idiopathic acute eosinophilic pneumonia",["IAEP"]],[725,"Developmental and epileptic encephalopathy with spike-wave activation in sleep",["Epileptic encephalopathy with continuous spike-and-wave during slow sleep","Epileptic encephalopathy with spike-and wave activation in sleep","CSWS","CSWSS syndrome","Continuous spikes and waves during sleep","Continuous spikes and waves during slow-wave sleep","DEE-SWAS"]],[726,"Alpers-Huttenlocher syndrome",["Alpers progressive sclerosing poliodystrophy","Alpers syndrome","Progressive neuronal degeneration of childhood with liver disease"]],[727,"Microscopic polyangiitis",["MPA","Micropolyangiitis","Microscopic polyarteritis"]],[728,"Relapsing polychondritis",["Polychondropathia"]],[729,"Polycythemia vera",["Acquired primary erythrocytosis","Osler-Vaquez disease","PV","Polycythemia rubra vera","Vaquez disease"]],[730,"Autosomal dominant polycystic kidney disease",["ADPKD"]],[731,"Autosomal recessive polycystic kidney disease",["AR-PKD"]],[732,"Polymyositis"],[733,"Familial adenomatous polyposis",["Colorectal adenomatous polyposis","FAP","Familial polyposis coli"]],[734,"Alpha delta granule deficiency",["Alpha dense granule deficiency","Combined alpha-delta platelet storage pool deficiency"]],[735,"Porokeratosis of Mibelli"],[736,"Palmoplantar porokeratosis of Mantoux"],[737,"Porokeratosis plantaris palmaris et disseminata",["Palmar, plantar and disseminated porokeratosis"]],[738,"Porphyria"],[739,"Prader-Willi syndrome",["Prader-Labhart-Willi syndrome"]],[740,"Hutchinson-Gilford progeria syndrome",["HGPS","Progeria"]],[741,"Familial mitral valve prolapse"],[742,"Prolidase deficiency",["Hyperimidodipeptiduria"]],[743,"Severe hereditary thrombophilia due to congenital protein S deficiency",["Autosomal recessive thrombophilia due to congenital protein S deficiency"]],[744,"Proteus syndrome",["Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome"]],[745,"Severe hereditary thrombophilia due to congenital protein C deficiency",["Autosomal recessive thrombophilia due to PC deficiency","Autosomal recessive thrombophilia due to congenital protein C deficiency"]],[746,"Mitochondrial trifunctional protein deficiency",["TFP deficiency","TFPD"]],[747,"Autoimmune pulmonary alveolar proteinosis",["Autoimmune PAP","aPAP"]],[748,"Mendelian susceptibility to mycobacterial diseases",["Idiopathic infection caused by BCG or atypical mycobacteria","MSMD","Mendelian susceptibility to atypical mycobacteria","Mendelian susceptibility to mycobacterial infections"]],[749,"Congenital prekallikrein deficiency"],[750,"Pseudoachondroplasia",["Pseudoachondroplastic dysplasia","Pseudoachondroplastic spondyloepiphyseal dysplasia"]],[751,"NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency"],[752,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",["17-beta-hydroxysteroid dehydrogenase 3 deficiency","17-ketoreductase deficiency","17-ketosteroidreductase deficiency","46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"]],[753,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency",["46,XY DSD due to 5-alpha-reductase 2 deficiency","46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","Pseudovaginal perineoscrotal hypospadias","Steroid 5-alpha-reductase 2 deficiency"]],[754,"Androgen insensitivity syndrome",["AIS","Androgen resistance syndrome","Goldberg-Maxwell syndrome","Morris syndrome","Testicular feminization syndrome"]],[755,"Leydig cell hypoplasia",["46,XY DSD due to LH resistance or LHB deficiency","46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency","46,XY disorder of sex development due to LH resistance or LHB deficiency","46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"]],[756,"Pseudohypoaldosteronism type 1",["PHA type 1","PHA1"]],[757,"Pseudohypoaldosteronism type 2",["Chloride shunt syndrome","Familial hyperkalemic hypertension","Gordon hyperkalemia-hypertension syndrome","Hyperkalemia-hypertension syndrome, Gordon type","Hypertensive hyperkalemia","Mineralocorticoid resistant hyperkalemia","PHA2","PHAII","Spitzer-Weinstein syndrome"]],[758,"Pseudoxanthoma elasticum",["Gronblad-Strandberg-Touraine syndrome","PXE"]],[759,"NON RARE IN EUROPE: Central precocious puberty",["NON RARE IN EUROPE: CPP","NON RARE IN EUROPE: Gonadotropin-dependant precocious puberty"]],[760,"Purine nucleoside phosphorylase deficiency",["PNP deficiency","PNPase deficiency"]],[761,"Immunoglobulin A vasculitis",["Anaphylactoid purpura","Henoch-Schönlein purpura","IgA vasculitis","Purpura rheumatica","Rheumatoid purpura"]],[763,"Pycnodysostosis",["Pyknodysostosis"]],[764,"Pyomyositis",["Myositis purulenta tropica","Myositis tropicans","PM","Suppurative myositis","Tropical pyomyositis"]],[765,"Pyruvate dehydrogenase deficiency",["PDH","PDHC","Pyruvate dehydrogenase complex deficiency"]],[766,"Hemolytic anemia due to red cell pyruvate kinase deficiency",["Pyruvate kinase deficiency of erythrocytes"]],[767,"Polyarteritis nodosa",["Küssmaul-Maier disease","PAN","Periarteritis nodosa"]],[768,"Congenital long QT syndrome",["Congenital LQTS"]],[769,"Rabson-Mendenhall syndrome"],[770,"Rabies"],[771,"NON RARE IN EUROPE: Ulcerative colitis",["NON RARE IN EUROPE: Ulcerative proctitis","NON RARE IN EUROPE: Ulcerative proctosigmoiditis"]],[772,"Infantile Refsum disease",["IRD","Mild PBD-ZSD","Mild peroxisome biogenesis disorder-Zellweger spectrum disorder"]],[773,"Adult Refsum disease",["Classic Refsum disease","HMSN 4","HMSN IV","Hereditary motor and sensory neuropathy type 4","Hereditary motor and sensory neuropathy type IV","Heredopathia atactica polyneuritiformis","Phytanic-CoA hydroxylase deficiency"]],[774,"Hereditary hemorrhagic telangiectasia",["HHT","Rendu-Osler disease","Rendu-Osler-Weber disease"]],[775,"OBSOLETE: X-linked intellectual disability, Martinez type"],[776,"Lujan-Fryns syndrome",["X-linked intellectual disability with marfanoid habitus"]],[777,"X-linked non-syndromic intellectual disability"],[778,"Rett syndrome"],[779,"Reynolds syndrome",["Primary biliary cirrhosis and systemic scleroderma"]],[780,"Rhabdomyosarcoma"],[781,"Q fever",["Coxiellosis","Infection due to Coxiella burnetii","Nine Mile fever","Quadrilateral fever","Query fever"]],[782,"Axenfeld-Rieger syndrome",["Axenfeld syndrome","Rieger syndrome"]],[783,"Rubinstein-Taybi syndrome",["Broad thumb-hallux syndrome","Broad thumbs-halluces syndrome"]],[785,"Estrogen resistance syndrome"],[786,"Generalized glucocorticoid resistance syndrome"],[790,"Retinoblastoma"],[791,"Retinitis pigmentosa"],[792,"X-linked retinoschisis",["X-linked juvenile retinoschisis","XLRS"]],[793,"SAPHO syndrome",["Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome"]],[794,"Saethre-Chotzen syndrome",["ACS3","Acrocephalosyndactyly type 3","SCS"]],[795,"Rare form of salmonellosis"],[796,"Sandhoff disease"],[797,"Sarcoidosis",["Besnier-Boeck-Schaumann disease","Boeck sarcoid"]],[798,"Schinzel-Giedion syndrome",["SGS"]],[799,"Schizencephaly"],[800,"Schwartz-Jampel syndrome",["Aberfeld syndrome","Burton skeletal dysplasia","Burton syndrome","Catel-Hempel syndrome","Dysostosis enchondralis metaepiphysaria, Catel-Hempel type","Myotonic chondrodystrophy","Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies","Osteochondromuscular dystrophy","SJS","SJS1","Schwartz-Jampel syndrome type 1","Schwartz-Jampel-Aberfeld syndrome"]],[801,"Scleroderma"],[802,"NON RARE IN EUROPE: Multiple sclerosis"],[803,"Amyotrophic lateral sclerosis",["ALS","Charcot disease","Lou Gehrig disease"]],[805,"Tuberous sclerosis complex",["Bourneville syndrome","Tuberous sclerosis"]],[806,"Scott syndrome"],[807,"Sebastian syndrome",["Macrothrombocytopenia with leukocyte inclusions"]],[808,"Seckel syndrome"],[809,"Mixed connective tissue disease",["MCTD","Sharp syndrome"]],[810,"Shigellosis"],[811,"Shwachman-Diamond syndrome",["Pancreatic insufficiency and bone marrow dysfunction","SDS","Shwachman syndrome","Shwachman-Bodian-Diamond syndrome"]],[812,"Sialidosis type 1",["Cherry-red spot-myoclonus syndrome","Lipomucopolysaccharidosis","Normomorphic sialidosis"]],[813,"Silver-Russell syndrome",["Silver-Russell dwarfism"]],[816,"Sjögren-Larsson syndrome",["Fatty acid alcohol oxidoreductase deficiency"]],[817,"Peeling skin syndrome",["Deciduous skin","Familial continuous skin peeling syndrome","Idiopathic deciduous skin","Keratosis exfoliativa congenita","PSS","Peeling skin disease"]],[818,"Smith-Lemli-Opitz syndrome",["7-dehydrocholesterol reductase deficiency","RSH syndrome","SLOS"]],[819,"Smith-Magenis syndrome",["17p11.2 microdeletion syndrome"]],[820,"Sneddon syndrome",["Ehrmann-Sneddon syndrome","Livedo racemosa-cerebrovascular accident syndrome","Livedo reticularis-cerebrovascular accident syndrome"]],[821,"Sotos syndrome",["Cerebral gigantism"]],[822,"Hereditary spherocytosis",["Minkowski-Chauffard disease"]],[823,"Spina bifida and other spinal dysraphisms",["Isolated spina bifida","Isolated spinal dysraphism"]],[824,"Primary myelofibrosis",["Agnogenic myeloid metaplasia","Idiopathic myelofibrosis","Myelofibrosis with myeloid metaplasia","Osteomyelofibrosis"]],[825,"NON RARE IN EUROPE: Ankylosing spondylitis",["NON RARE IN EUROPE: Ankylosing spondylarthritis","NON RARE IN EUROPE: Bechterew syndrome"]],[826,"Sporotrichosis"],[827,"Stargardt disease",["Fundus flavimaculatus","Stargardt 1"]],[828,"Stickler syndrome",["Hereditary progressive arthroophthalmopathy"]],[829,"Adult-onset Still disease",["AOSD","Wissler-Fanconi syndrome"]],[830,"NON RARE IN EUROPE: Stuccokeratosis"],[831,"Congenital cervical spinal stenosis",["Congenital narrowing of cervical spinal canal","Congenital stenosis of the cervical spine"]],[832,"Succinyl-CoA:3-oxoacid CoA transferase deficiency",["OXCT1 deficiency","SCOT deficiency","Succinyl-CoA acetoacetate transferase deficiency","Succinyl-CoA:3-ketoacid CoA transferase deficiency"]],[833,"Encephalopathy due to sulfite oxidase deficiency"],[834,"Free sialic acid storage disease",["FSASD","Free sialic acid storage disorder"]],[838,"Susac syndrome",["Retinocochleocerebral vasculopathy"]],[839,"Congenital nephrotic syndrome, Finnish type",["Finnish congenital nephrosis"]],[840,"Syringocystadenoma papilliferum",["Fistulous vegetative verrucous hydradenoma","Naevus syringocystadenomatosus papilliferus","Papillary syringocystadenoma","SCAP","Syringadenoma papilliferum"]],[841,"Sebocystomatosis",["Steatocystoma multiplex"]],[842,"Testicular seminomatous germ cell tumor",["Seminoma of testis","Seminomatous germ cell tumor of testis","Testicular seminoma"]],[844,"OBSOLETE: Lown-Ganong-Levine syndrome",["OBSOLETE: Atrial tachyarrhythmia with short PR interval","OBSOLETE: LGL syndrome"]],[845,"Tay-Sachs disease",["Beta-hexosaminidase subunit alpha deficiency","GM2 gangliosidosis, Tay-Sachs variant","GM2 gangliosidosis, hexosaminidase A deficiency variant","HEXA disorder"]],[846,"Alpha-thalassemia"],[847,"X-linked alpha-thalassemia-intellectual disability syndrome",["ATR-X syndrome"]],[848,"Beta-thalassemia"],[849,"Glanzmann thrombasthenia"],[850,"May-Hegglin thrombocytopenia",["MHA","May-Hegglin anomaly","May-Hegglin syndrome"]],[851,"Paris-Trousseau thrombocytopenia"],[852,"X-linked isolated thrombocytopenia with normal platelets size"],[853,"Fetal and neonatal alloimmune thrombocytopenia",["FNAIT","NAIT"]],[854,"Non-malignant and non-cirrhotic portal vein thrombosis",["Non-cirrhotic and non-tumoral portal vein thrombosis","Non-malignant non-cirrhotic PVT"]],[855,"NON RARE IN EUROPE: Hashimoto thyroiditis",["NON RARE IN EUROPE: Hashimoto hypothyroidism","NON RARE IN EUROPE: Hashimoto struma"]],[856,"NON RARE IN EUROPE: Tourette syndrome",["NON RARE IN EUROPE: GTS","NON RARE IN EUROPE: Gilles de la Tourette syndrome","NON RARE IN EUROPE: Tourette disease"]],[857,"Townes-Brocks syndrome",["Imperforate anus-hand, foot and ear anomalies syndrome","REAR syndrome","Renal-ear-anal-radial syndrome","Sensorineural deafness with imperforate anus and hypoplastic thumbs","Sensorineural hearing loss with imperforate anus and hypoplastic thumbs","TBS","Townes syndrome"]],[858,"Congenital toxoplasmosis",["Mother-to-child transmission of toxoplasmosis","Toxoplasma embryofetopathy","Toxoplasma embryopathy"]],[859,"Transcobalamin II deficiency",["Inherited deficiency of transcobalamin II"]],[860,"Congenitally uncorrected transposition of the great arteries",["Discordant ventriculoarterial connections","Transposition of the great vessels"]],[861,"Treacher-Collins syndrome",["Franceschetti-Klein syndrome","Mandibulofacial dysostosis without limb anomalies"]],[862,"NON RARE IN EUROPE: Hereditary essential tremor"],[863,"Trichinellosis",["Trichinosis"]],[864,"Trichofolliculoma"],[867,"Familial multiple trichoepithelioma"],[868,"Triose phosphate-isomerase deficiency"],[869,"Triple A syndrome",["2A syndrome","3A syndrome","4A syndrome","AAA syndrome","Achalasia-addisonianism-alacrima syndrome","Adrenal insufficiency-achalasia-alacrima syndrome","Allgrove syndrome","Double A syndrome","Quaternary A syndrome"]],[870,"Down syndrome",["Trisomy 21"]],[871,"Hereditary progressive cardiac conduction defect",["Hereditary Lenègre disease","Hereditary Lev disease","Hereditary Lev-Lenègre disease","Hereditary PCCD","Hereditary bundle branch defect","Hereditary progressive heart block"]],[872,"OBSOLETE: Disorder in the hormonal synthesis with or without goiter"],[873,"Desmoid tumor",["Aggressive fibromatosis","Desmoid type fibromatosis"]],[874,"Primary adult heart tumor",["Adult cardiac tumor","Adult heart tumor"]],[875,"Primary pediatric heart tumor",["Cardiac tumor of child","Heart tumor of child"]],[876,"Yolk sac tumor",["Endodermal sinus tumor"]],[877,"Neuroendocrine neoplasm"],[879,"Tungiasis"],[881,"Turner syndrome",["45,X syndrome","45,X/46,XX syndrome"]],[882,"Tyrosinemia type 1",["FAH deficiency","Fumarylacetoacetase deficiency","Fumarylacetoacetate hydrolase deficiency","Hepatorenal tyrosinemia","Tyrosinemia type I"]],[883,"Extragonadal teratoma"],[884,"Pallister-Killian syndrome",["Isochromosome 12p mosaicism","Isochromosome 12p syndrome"]],[886,"Usher syndrome",["Retinitis pigmentosa-deafness syndrome","Retinitis pigmentosa-hearing loss syndrome","USH"]],[887,"VACTERL/VATER association",["VACTERL association","VATER association","Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association"]],[888,"Van der Woude syndrome",["Cleft lip/palate with mucous cysts of lower lip","Lip-pit syndrome","VWS"]],[889,"Cutaneous small vessel vasculitis",["Cutaneous hypersensitivity vasculitis"]],[890,"Hepatic veno-occlusive disease",["Sinusoidal obstruction syndrome"]],[891,"Familial exudative vitreoretinopathy",["Criswick-Schepens syndrome","FEVR"]],[892,"Von Hippel-Lindau disease",["Familial cerebelloretinal angiomatosis","Lindau disease","VHL","Von Hippel-Lindau syndrome"]],[893,"WAGR syndrome",["Del(11)(p13)","Deletion 11p13","Monosomy 11p13","Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome"]],[894,"Waardenburg syndrome type 1",["WS1","Waardenburg syndrome type I"]],[895,"Waardenburg syndrome type 2",["WS2","Waardenburg syndrome type II"]],[896,"Waardenburg syndrome type 3",["Klein-Waardenburg syndrome","WS3","Waardenburg syndrome type III","Waardenburg syndrome with limb anomalies"]],[897,"Waardenburg-Shah syndrome",["Shah-Waardenburg syndrome","WS4","Waardenburg syndrome type 4","Waardenburg-Hirschsprung syndrome"]],[898,"Wagner disease",["Dominant hyaloideoretinal dystrophy of Wagner","VCAN-related vitreoretinopathy","Vitreoretinal degeneration, Wagner type","Wagner syndrome"]],[899,"Walker-Warburg syndrome",["HARD syndrome","Hydrocephalus-agyria-retinal dysplasia syndrome","WWS"]],[900,"Granulomatosis with polyangiitis",["GPA","Wegener granulomatosis"]],[901,"Wells syndrome",["Eosinophilic cellulitis"]],[902,"Werner syndrome",["Adult progeria","WS"]],[903,"Von Willebrand disease",["Hereditary pseudohaemophilia","Hereditary von Willebrand disease"]],[904,"Williams syndrome",["Deletion 7q11.23","Monosomy 7q11.23","Williams-Beuren syndrome"]],[905,"Wilson disease",["Hepatolenticular degeneration"]],[906,"Wiskott-Aldrich syndrome",["Eczema-thrombocytopenia-immunodeficiency syndrome","WAS"]],[907,"NON RARE IN EUROPE: Wolff-Parkinson-White syndrome",["NON RARE IN EUROPE: Ventricular familial preexcitation syndrome"]],[908,"Fragile X syndrome",["FRAXA syndrome","FXS","FraX syndrome","Martin-Bell syndrome"]],[909,"Cerebrotendinous xanthomatosis",["CTX","Sterol 27-hydroxylase deficiency"]],[910,"Xeroderma pigmentosum"],[911,"Combined immunodeficiency due to ZAP70 deficiency",["Zeta-associated-protein 70 deficiency"]],[912,"Zellweger syndrome",["Cerebrohepatorenal syndrome","Severe PBD-ZSD","Severe peroxisome biogenesis disorder-Zellweger spectrum disorder","ZS"]],[913,"Zollinger-Ellison syndrome",["Gastrinoma"]],[915,"Aarskog-Scott syndrome",["Aarskog syndrome","Faciodigitogenital syndrome","Faciogenital dysplasia"]],[916,"Aase-Smith syndrome type 1",["Aase-Smith I syndrome","Hydrocephalus-cleft palate-joint contractures syndrome"]],[918,"ABCD syndrome",["Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome","Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome"]],[920,"Ablepharon macrostomia syndrome",["AMS"]],[921,"Abruzzo-Erickson syndrome",["CHARGE-like syndrome","Cleft palate-coloboma-deafness syndrome","Cleft palate-coloboma-hearing loss syndrome"]],[922,"Familial nasal acilia"],[924,"NON RARE IN EUROPE: Acanthosis nigricans"],[926,"Acatalasemia",["Catalase deficiency"]],[927,"Hyperammonemia due to N-acetylglutamate synthase deficiency",["NAGS deficiency"]],[929,"Achalasia-microcephaly syndrome"],[930,"Idiopathic achalasia",["Achalasia cardia","Idiopathic achalasia of esophagus","Primary achalasia"]],[931,"Isolated acheiropodia",["Isolated acheiropody"]],[932,"Achondrogenesis"],[935,"Short-limb skeletal dysplasia with severe combined immunodeficiency",["Achondroplasia-SCID syndrome","Achondroplasia-Swiss type agammaglobulinemia syndrome","Achondroplasia-severe combined immunodeficiency syndrome","Immunodeficiency-short limb dwarfism syndrome","Short limb skeletal dysplasia with SCID"]],[936,"Succinic acidemia"],[939,"3-hydroxyisobutyric aciduria"],[941,"D-glyceric aciduria",["D-glycerate kinase deficiency","D-glyceric acidemia"]],[943,"Malonic aciduria",["Deficiency of malonyl-CoA decarboxylase","MLYCD deficiency","Malonic acidemia","Malonyl-CoA decarboxylase deficiency"]],[945,"Acalvaria",["Primary acalvaria"]],[946,"OBSOLETE: Acrocephalosyndactyly",["OBSOLETE: Acrocephalosyndactylia"]],[949,"Acrocraniofacial dysostosis",["Kaplan-Plauchu-Fitch syndrome"]],[950,"Acrodysostosis",["Acrodysostosis with or without multiple hormonal resistance","Acrodysplasia","Arkless-Graham syndrome","Maroteaux-Malamut syndrome"]],[952,"Acrofacial dysostosis, Weyers type",["Curry-Hall syndrome","Weyers acrodental dysostosis","Weyers acrofacial dysostosis"]],[953,"OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type"],[955,"Hajdu-Cheney syndrome",["Acroosteolysis dominant type","Acroosteolysis with osteoporosis and changes in skull and mandible","Arthrodentoosteodysplasia","Cheney syndrome"]],[956,"Acropectororenal dysplasia"],[957,"Acropectorovertebral dysplasia",["F syndrome"]],[958,"Acro-renal-mandibular syndrome",["Split hand/split foot-mandibular hypoplasia syndrome"]],[959,"Acro-renal-ocular syndrome"],[963,"Acromegaly"],[964,"Acromegaly-cutis verticis gyrata-corneal leukoma syndrome"],[965,"Acromegaloid facial appearance syndrome"],[966,"Hypertrichosis-acromegaloid facial appearance syndrome",["HAFF","Hypertrichosis-acromegaloid facial features syndrome","Hypertrichosis-coarse face syndrome"]],[968,"Acromesomelic dysplasia, Hunter-Thompson type",["Acromesomelic dwarfism"]],[969,"Acromicric dysplasia"],[970,"Hereditary sensory and autonomic neuropathy type 2",["Autosomal recessive sensory radicular neuropathy","HSAN2","Hereditary sensory and autonomic neuropathy type II","Neurogenic acroosteolysis"]],[971,"Acrorenal syndrome"],[972,"Hereditary continuous muscle fiber activity"],[973,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral",["Isolated congenital adactyly of hand, unilateral","Isolated digits 2-5 hypodactyly, unilateral","Isolated digits 2-5 oligodactyly, unilateral"]],[974,"Adams-Oliver syndrome",["AOS","Aplasia cutis congenita with distal limb anomalies","Aplasia cutis congenita with terminal transverse limb defects","Congenital scalp defects with distal limb anomalies","Congenital scalp defects with distal limb reduction anomalies"]],[976,"Adenine phosphoribosyltransferase deficiency",["2,8-dihydroxyadenine urolithiasis","APRT deficiency"]],[977,"Adrenomyodystrophy"],[978,"ADULT syndrome",["Acro-dermato-ungual-lacrimal-tooth syndrome","Pigment anomaly-ectrodactyly-hypodontia syndrome"]],[980,"Absence of the pulmonary artery",["Aplasia of pulmonary artery","UAPA","Unilateral Pulmonary Artery Absence","Unilateral pulmonary artery agenesis"]],[981,"Internal carotid absence"],[982,"Pulmonary valve agenesis",["Absent pulmonary valve syndrome","Congenital absence of the pulmonary valve","PVA"]],[983,"Testicular regression syndrome",["ETRS","Embryonic testicular regression syndrome","TRS","Vanishing testes syndrome","Vanishing testis syndrome","XY gonadal agenesis syndrome"]],[984,"Pulmonary agenesis"],[988,"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome",["Absent tibia-polydactyly syndrome","Werner mesomelic spectrum"]],[989,"Hypoglossia-hypodactyly syndrome",["Aglossia-adactylia syndrome","Hanhart syndrome","Jussieu syndrome"]],[990,"Agnathia-holoprosencephaly-situs inversus syndrome"],[991,"PAGOD syndrome",["Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome"]],[994,"Fetal akinesia deformation sequence",["Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome","FADS","Pena-Shokeir syndrome type 1"]],[995,"X-linked fetal akinesia syndrome",["Holmes-Benacerraf syndrome"]],[998,"Albinism-deafness syndrome",["Albinism-hearing loss syndrome"]],[999,"Ermine phenotype",["O'Doherty syndrome","Pigmentary disorder with deafness","Pigmentary disorder with hearing loss"]],[1000,"Ocular albinism with late-onset sensorineural deafness",["Ocular albinism with late-onset sensorineural hearing loss"]],[1001,"2q37 microdeletion syndrome",["Albright hereditary osteodystrophy type 3","Albright hereditary osteodystrophy-like syndrome","Brachydactyly-intellectual disability syndrome","Del(2)(q37)","Deletion 2q37","Monosomy 2q37qter"]],[1002,"NON RARE IN EUROPE: Cluster headache",["NON RARE IN EUROPE: Ciliary neuralgia","NON RARE IN EUROPE: Cluster migraine","NON RARE IN EUROPE: Erythromelalgia of the head","NON RARE IN EUROPE: Erythroprosopalgia of Bing","NON RARE IN EUROPE: Histamine cephalalgia","NON RARE IN EUROPE: Histamine headache","NON RARE IN EUROPE: Histaminic cephalalgia","NON RARE IN EUROPE: Horton headache","NON RARE IN EUROPE: Migrainous neuralgia","NON RARE IN EUROPE: Red migraine"]],[1003,"Scalp defects-postaxial polydactyly syndrome"],[1005,"Alopecia-contractures-dwarfism-intellectual disability syndrome",["ACD-intellectual disability syndrome"]],[1006,"Alopecia antibody deficiency",["Ipp-Gelfand syndrome"]],[1008,"Alopecia-epilepsy-pyorrhea-intellectual disability syndrome",["Shokeir syndrome"]],[1010,"Autosomal dominant palmoplantar keratoderma and congenital alopecia",["Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia","PPK-CA, Stevanovic type","Palmoplantar keratoderma and congenital alopecia, Stevanovic type"]],[1011,"Alopecia-hypogonadism-extrapyramidal syndrome",["Devriendt-Legius-Fryns syndrome"]],[1014,"Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome",["Devriendt-Vandenberghe-Fryns syndrome"]],[1018,"X-linked Alport syndrome-diffuse leiomyomatosis",["Xq22.3 microdeletion syndrome"]],[1019,"Epstein syndrome",["Alport syndrome with macrothrombocytopenia"]],[1020,"Early-onset autosomal dominant Alzheimer disease",["EOFAD","Early-onset familial autosomal dominant Alzheimer disease","Familial Alzheimer disease"]],[1021,"Amaurosis-hypertrichosis syndrome"],[1023,"Congenital generalized hypertrichosis, Ambras type",["Ambras syndrome"]],[1027,"Autosomal recessive amelia"],[1028,"Amelo-onycho-hypohidrotic syndrome",["Ameloonychohypohidrotic ectodermal dysplasia","Ameloonychohypohidrotic syndrome"]],[1031,"Enamel-renal syndrome",["Amelogenesis imperfecta-nephrocalcinosis syndrome"]],[1032,"OBSOLETE: Hyperdibasic aminoaciduria type 1"],[1034,"OBSOLETE: Amniotic bands",["OBSOLETE: ADAM syndrome","OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome"]],[1035,"Beta-mercaptolactate cysteine disulfiduria",["3-mercaptopyruvate sulfurtransferase deficiency","Ampola syndrome","MCDU"]],[1037,"Arthrogryposis multiplex congenita",["AMC","Multiple congenital arthrogryposis"]],[1040,"Metaphyseal anadysplasia",["Maroteaux-Verloes-Stanescu syndrome","Regressive metaphyseal dysplasia"]],[1041,"Hydrops fetalis",["Fetal anasarca","Fetal hydrops","Generalized fetal edema","HF"]],[1044,"OBSOLETE: Anemia due to adenosine triphosphatase deficiency"],[1046,"Lethal hemolytic anemia-genital anomalies syndrome",["Water-West syndrome"]],[1047,"Sideroblastic anemia"],[1048,"Isolated anencephaly/exencephaly"],[1051,"Ramos-Arroyo syndrome",["Corneal anesthesia-deafness-intellectual disability syndrome","Corneal anesthesia-hearing loss-intellectual disability syndrome"]],[1052,"Mosaic variegated aneuploidy syndrome",["Warburton-Anyane-Yeboa syndrome"]],[1053,"Vein of Galen malformation",["VOGM","Vein of Galen arteriovenous malformation"]],[1054,"Aneurysm of sinus of Valsalva",["SOVA","SVA","Sinus of Valsalva aneurysm"]],[1055,"Congenital left ventricular aneurysm"],[1057,"OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome"],[1059,"Blue rubber bleb nevus syndrome",["BRBN","Bean syndrome"]],[1060,"Systemic cystic angiomatosis-Seip syndrome",["Brunzell syndrome"]],[1062,"Hereditary neurocutaneous malformation"],[1063,"Tufted angioma",["Nakagawa angioblastoma"]],[1064,"Aniridia-renal agenesis-psychomotor retardation syndrome",["Sommer-Rathbun-Battles syndrome"]],[1065,"Aniridia-cerebellar ataxia-intellectual disability syndrome",["Gillespie syndrome"]],[1067,"Aniridia-ptosis-intellectual disability-familial obesity syndrome"],[1068,"Aniridia-intellectual disability syndrome",["Walker-Dyson syndrome"]],[1069,"Aniridia-absent patella syndrome"],[1070,"Anisakiasis"],[1071,"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome",["AEC syndrome","Hay-Wells syndrome"]],[1072,"Ankyloblepharon filiforme adnatum-cleft palate syndrome"],[1074,"Ankyloblepharon filiforme adnatum-imperforate anus syndrome",["Aughton-Hufnagle syndrome"]],[1077,"Dental ankylosis",["Ankylosis of teeth"]],[1078,"Thumb stiffness-brachydactyly-intellectual disability syndrome",["Piussan-Lenaerts-Mathieu syndrome"]],[1081,"Coronary artery congenital malformation"],[1083,"Microlissencephaly"],[1084,"Isolated lissencephaly type 1 without known genetic defects"],[1088,"OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome",["OBSOLETE: Rommen-Mueller-Sybert syndrome"]],[1092,"Renal-genital-middle ear anomalies"],[1094,"Anonychia-microcephaly syndrome",["Teebi-Kaurah syndrome"]],[1101,"Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome",["Cassia Stocco dos Santos syndrome"]],[1102,"Anophthalmia-hypothalamo-pituitary insufficiency syndrome",["14q22 microdeletion syndrome","Al Frayh-Facharzt-Haque syndrome","Monosomy 14q22"]],[1104,"Anophthalmia plus syndrome",["Fryns microphthalmia syndrome","Microphthalmia with facial clefting"]],[1106,"Microphthalmia with limb anomalies",["Anophthalmia-syndactyly syndrome","OAS","Ophthalmoacromelic syndrome","Waardenburg anophthalmia syndrome"]],[1110,"Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome"],[1112,"Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome",["Johnson-Munson syndrome"]],[1113,"Aphalangy-syndactyly-microcephaly syndrome"],[1114,"Aplasia cutis congenita"],[1115,"OBSOLETE: Recessive aplasia cutis congenita of limbs"],[1116,"Aplasia cutis congenita-intestinal lymphangiectasia syndrome",["Bronspiegel-Zelnick syndrome"]],[1117,"Aplasia cutis-myopia syndrome",["Gershoni-Baruch-Leibo syndrome"]],[1118,"Fibular aplasia-ectrodactyly syndrome"],[1120,"Lung agenesis-heart defect-thumb anomalies syndrome",["Mardini-Nyhan syndrome"]],[1121,"Radial deficiency-tibial hypoplasia syndrome"],[1122,"Ulnar hypoplasia-split foot syndrome",["Ulnar hypoplasia-lobster-claw deformity of feet syndrome","Van den Berghe-Dequecker syndrome"]],[1123,"Caudal appendage-deafness syndrome",["Caudal appendage-hearing loss syndrome","Lynch-Lee-Murday syndrome"]],[1125,"Ocular motor apraxia, Cogan type",["Oculomotor apraxia, Cogan type"]],[1126,"Aprosencephaly cerebellar dysgenesis"],[1129,"Arachnodactyly-abnormal ossification-intellectual disability syndrome",["Kosztolanyi syndrome"]],[1130,"Arachnodactyly-intellectual disability-dysmorphism syndrome",["De Die-Smulders-Vles-Fryns syndrome"]],[1131,"X-linked mandibulofacial dysostosis",["Mandibulofacial dysostosis, Toriello type","X-linked branchial arch syndrome","X-linked mandibulofacial dysostosis with limb anomalies"]],[1132,"Aortic arch defects"],[1133,"AREDYLD syndrome",["Acrorenal defect-ectodermal dysplasia-diabetes syndrome"]],[1134,"Isolated arrhinia",["Isolated nose agenesis"]],[1135,"Arrhinia-choanal atresia-microphthalmia syndrome"],[1136,"OBSOLETE: Arnold-Chiari malformation type II",["OBSOLETE: Arnold-Chiari malformation type 2","OBSOLETE: Chiari malformation type 2","OBSOLETE: Chiari malformation type II"]],[1137,"OBSOLETE: Pulmonary aortic stenosis obstructive uropathy",["OBSOLETE: Kashani-Strom-Utley syndrome"]],[1138,"Abnormal origin of the pulmonary artery"],[1139,"OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome"],[1143,"Neurogenic arthrogryposis multiplex congenita"],[1144,"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome",["Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome","Distal arthrogryposis type 6"]],[1145,"Infantile-onset X-linked spinal muscular atrophy",["SMAX2","Spinal muscular atrophy with arthrogryposis","X-linked distal arthrogryposis multiplex congenita","X-linked spinal muscular atrophy type 2"]],[1146,"Distal arthrogryposis type 1",["DA1","Digitotalar dysmorphism"]],[1147,"Sheldon-Hall syndrome",["DA2B","Distal arthrogryposis multiplex congenita type 2B","Distal arthrogryposis type 2B","Freeman-Sheldon syndrome variant","SSH"]],[1149,"Kuskokwim syndrome",["Arthrogryposis-like syndrome","Kuskokwim disease"]],[1150,"Arthrogryposis multiplex congenita-whistling face syndrome",["Illum syndrome"]],[1153,"OBSOLETE: Transient neonatal arthrogryposis"],[1154,"Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome",["Distal arthrogryposis type 5","Distal arthrogryposis type IIB","Distal arthrogryposis with ophthalmoplegia","Oculomelic amyoplasia"]],[1155,"OBSOLETE: Arthrogryposis due to muscular dystrophy"],[1159,"Progressive pseudorheumatoid dysplasia",["PPD","Progressive pseudorheumatoid arthropathy of childhood","Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome"]],[1160,"Chylous ascites"],[1162,"NON RARE IN EUROPE: Asperger syndrome"],[1163,"Aspergillosis"],[1164,"Allergic bronchopulmonary aspergillosis",["ABPA","Allergic aspergillosis","Hinson-Pepys disease"]],[1166,"Congenital unilateral hypoplasia of depressor anguli oris",["Isolated asymmetric crying facies"]],[1167,"OBSOLETE: Facial asymmetry-temporal seizures syndrome"],[1168,"Ataxia-oculomotor apraxia type 1",["AOA1"]],[1170,"Autosomal recessive cerebelloparenchymal disorder type 3",["Autosomal recessive spinocerebellar ataxia type 2","SCAR2"]],[1171,"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome",["CAPOS syndrome","Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome"]],[1172,"Autosomal recessive cerebellar ataxia",["ARCA"]],[1173,"Cerebellar ataxia-hypogonadism syndrome",["Gordon-Holmes syndrome","Luteinizing hormone-releasing hormone deficiency with ataxia"]],[1174,"Cerebellar ataxia-ectodermal dysplasia syndrome"],[1175,"X-linked progressive cerebellar ataxia"],[1177,"Early-onset cerebellar ataxia with retained tendon reflexes",["EOCA","EOCARR","Harding ataxia"]],[1178,"Ataxia-tapetoretinal degeneration syndrome"],[1179,"Benign paroxysmal tonic upgaze of childhood with ataxia",["Ouvrier-Billson syndrome"]],[1180,"Ataxia-hypogonadism-choroidal dystrophy syndrome",["Boucher-Neuhäuser syndrome"]],[1182,"Spastic ataxia with congenital miosis",["Autosomal dominant spastic ataxia type 7","SPAX7"]],[1183,"Opsoclonus-myoclonus syndrome",["Ataxo-opso-myoclonus syndrome","Dancing eye syndrome","Dancing eye-dancing feet syndrome","Kinsbourne syndrome","OMA syndrome","OMS","Opsoclonus-myoclonus-ataxia syndrome","POMA syndrome","Paraneoplastic opsoclonus-myoclonus","Paraneoplastic opsoclonus-myoclonus-ataxia syndrome"]],[1184,"Ataxia-photosensitivity-short stature syndrome",["Fenton-Wilkinson-Toselano syndrome"]],[1185,"Spinocerebellar ataxia-dysmorphism syndrome"],[1186,"Infantile-onset spinocerebellar ataxia",["IOSCA","Ohaha syndrome","Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"]],[1187,"Lethal ataxia with deafness and optic atrophy",["Arts syndrome","Lethal ataxia with hearing loss and optic atrophy"]],[1188,"Ataxia-deafness-intellectual disability syndrome",["Ataxia-hearing loss-intellectual disability syndrome","Reardon-Baraitser syndrome"]],[1190,"Atelosteogenesis type I",["AO1","AOI","Atelosteogenesis type 1","Giant cell chondrodysplasia","Spondylo-humero-femoral dysplasia"]],[1192,"Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome",["Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome","Feigenbaum-Bergeron-Richardson syndrome"]],[1193,"Atkin-Flaitz syndrome",["X-linked intellectual disability, Atkin type"]],[1194,"TMEM70-related mitochondrial encephalo-cardio-myopathy",["Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency","Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency","Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency"]],[1195,"Congenital atransferrinemia",["Congenital hypotransferrinemia"]],[1198,"Colonic atresia"],[1199,"Esophageal atresia",["CEA","Congenital esophageal atresia","EA/TEF","Esophageal atresia with or without trachea-esophageal fistula","Oesophageal atresia"]],[1200,"Burn-McKeown syndrome",["Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"]],[1201,"Small bowel atresia",["Atresia of small bowel","Atresia of small intestine","Jejunal atresia","Jejunoileal atresia","SBA","Small intestinal atresia"]],[1202,"Larynx atresia"],[1203,"Duodenal atresia"],[1205,"Mitral atresia"],[1207,"Pulmonary atresia with ventricular septal defect"],[1208,"Pulmonary atresia-intact ventricular septum syndrome"],[1209,"Tricuspid atresia"],[1211,"OBSOLETE: Atrichia-intellectual disability and growth delay syndrome"],[1214,"Progressive hemifacial atrophy",["Hemifacial atrophy","PHA","Parry-Romberg syndrome","Progressive facial hemiatrophy","Romberg syndrome"]],[1215,"Autosomal dominant optic atrophy plus syndrome",["ADOA+","DOA+","Optic atrophy-deafness-polyneuropathy-myopathy syndrome","Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome"]],[1216,"Autosomal dominant congenital benign spinal muscular atrophy",["Autosomal dominant benign distal spinal muscular atrophy","Congenital benign spinal muscular atrophy with contractures","Congenital nonprogressive spinal muscular atrophy"]],[1217,"Spinal atrophy-ophthalmoplegia-pyramidal syndrome",["Hamano-Tsukamoto syndrome"]],[1219,"Aurocephalosyndactyly",["Auralcephalosyndactyly","Kurczynski-Casperson syndrome"]],[1221,"Cheilitis glandularis"],[1223,"Balantidiasis",["Balantidiosis","Ciliary dysentery"]],[1225,"Baller-Gerold syndrome"],[1226,"Bamforth-Lazarus syndrome",["Athyroidal hypothyroidism-spiky hair-cleft palate syndrome","Bamforth syndrome","Hypothyroidism-cleft palate syndrome"]],[1227,"Bangstad syndrome",["Ataxia-diabetes-goiter-gonadal insufficiency syndrome"]],[1228,"Banki syndrome"],[1229,"Pseudo-TORCH syndrome type 1",["Pseudo-TORCH syndrome due to OCLN deficiency","OCLN-related pseudo-TORCH syndrome","BLC-PMG","Band like calcification with simplified gyration and polymicrogyria","Bilateral band-like calcification with polymicrogyria","Microcephaly-intracranial calcification-intellectual disability syndrome","PTORCH1","Pseudo-TORCH syndrome-1"]],[1231,"Barber-Say syndrome",["Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome"]],[1232,"NON RARE IN EUROPE: Barrett esophagus"],[1234,"Bartsocas-Papas syndrome",["Autosomal recessive popliteal pterygium syndrome","Lethal popliteal pterygium syndrome"]],[1235,"OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome",["OBSOLETE: Basan syndrome"]],[1236,"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"],[1237,"Beemer-Ertbruggen syndrome",["Lethal hydrocephalus-cardiac malformation-dense bones syndrome"]],[1239,"Behr syndrome",["Behr complicated familial optic atrophy"]],[1240,"Metaphyseal acroscyphodysplasia",["Bellini syndrome","Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome"]],[1241,"Bencze syndrome",["Hemifacial hyperplasia-strabismus syndrome"]],[1243,"Best vitelliform macular dystrophy",["BMD","BVMD","Best disease","Best macular dystrophy","Early-onset vitelliform macular dystrophy","Juvenile-onset vitelliform macular dystrophy","Polymorphic vitelline macular degeneration","Vitelliform macular dystrophy type 2"]],[1244,"NON RARE IN EUROPE: Bicuspid aortic valve"],[1245,"BIDS syndrome",["Amish brittle hair syndrome","Trichothiodystrophy type D"]],[1246,"Brachydactyly-nystagmus-cerebellar ataxia syndrome",["Biemond syndrome"]],[1247,"Schistosomiasis",["Bilharziasis"]],[1248,"Maxillonasal dysplasia",["Binder syndrome","Maxillonasal dysostosis"]],[1249,"OBSOLETE: Binswanger disease"],[1250,"OBSOLETE: Blaichman syndrome",["OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome"]],[1251,"Blepharofacioskeletal syndrome",["Richieri Costa-Guion Almeida-Rodini syndrome"]],[1252,"Blepharonasofacial malformation syndrome",["Pashayan syndrome","Pashayan-Pruzansky syndrome"]],[1253,"Ascher syndrome",["Blepharochalasis-double lip syndrome"]],[1256,"OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome",["OBSOLETE: Jorgenson-Lenz syndrome"]],[1258,"OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome",["OBSOLETE: Rodini-Richieri Costa syndrome"]],[1259,"Blepharoptosis-myopia-ectopia lentis syndrome"],[1260,"OBSOLETE: Sino-auricular heart block"],[1261,"Bonnemann-Meinecke-Reich syndrome",["Encephalopathy-intracerebral calcification-retinal degeneration syndrome"]],[1262,"Böök syndrome"],[1263,"Boomerang dysplasia"],[1264,"Tricho-retino-dento-digital syndrome",["Bork syndrome","Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome"]],[1266,"Dermato-cardio-skeletal syndrome, Borrone type"],[1267,"Botulism"],[1270,"Bowen-Conradi syndrome",["Bowen syndrome, Hutterite type"]],[1271,"Bowen syndrome"],[1272,"Aymé-Gripp syndrome",["Brachycephaly-deafness-cataract-intellectual disability syndrome","Brachycephaly-hearing loss-cataract-intellectual disability syndrome","Fine-Lubinsky syndrome"]],[1275,"Brachydactyly-elbow wrist dysplasia syndrome",["Brachydactyly-joint dysplasia syndrome","Liebenberg syndrome"]],[1276,"Brachydactyly-arterial hypertension syndrome",["Bilginturan brachydactyly","Bilginturan syndrome","Brachydactyly type E, with short stature and hypertension"]],[1277,"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome",["Stratton-Garcia-Young syndrome"]],[1278,"Brachydactyly-preaxial hallux varus syndrome"],[1292,"Brachymorphism-onychodysplasia-dysphalangism syndrome",["BOD syndrome","Senior syndrome"]],[1293,"Brachyolmia"],[1295,"Brachytelephalangy-dysmorphism-Kallmann syndrome"],[1296,"Lambert syndrome",["Branchial dysplasia-intellectual disability-inguinal hernia syndrome"]],[1297,"Branchio-oculo-facial syndrome",["BOFS"]],[1299,"Branchioskeletogenital syndrome",["BSG syndrome","Elsahy-Waters syndrome"]],[1300,"Autosomal dominant popliteal pterygium syndrome",["Facio-genito-popliteal syndrome","Popliteal web syndrome"]],[1301,"Bronchiectasis-oligospermia syndrome"],[1302,"Cryptogenic organizing pneumonia",["BOOP","Bronchiolitis obliterans organizing pneumonia","COP"]],[1303,"Bronchiolitis obliterans",["Constrictive bronchiolitis","Obliterative bronchiolitis"]],[1304,"Brucellosis"],[1305,"Feingold syndrome",["Brunner-Winter syndrome","Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum","FGLDS","FS","MMT","MODED syndrome","Microcephaly-digital anomalies-normal intelligence syndrome","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome","Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome","ODED syndrome","Oculo-digito-esophageal-duodenal syndrome"]],[1306,"NON RARE IN EUROPE: Buschke-Ollendorff syndrome",["NON RARE IN EUROPE: Disseminated dermatofibrosis with osteopoikilosis"]],[1307,"Distal limb deficiencies-micrognathia syndrome",["10q24 microduplication syndrome","Buttiens-Fryns syndrome"]],[1308,"C syndrome",["OTCS","Opitz C trigonocephaly","Opitz trigonocephaly C syndrome","Opitz trigonocephaly syndrome","Trigonocephaly C syndrome"]],[1309,"Medullary sponge kidney",["Cacchi-Ricci disease","MSK","Precalicial canalicular ectasia"]],[1310,"Caffey disease",["Infantile cortical hyperostosis"]],[1313,"Infantile choroidocerebral calcification syndrome"],[1314,"Symmetrical thalamic calcifications",["Bilateral symmetrical thalamic gliosis"]],[1317,"CAMFAK syndrome",["CAMAK syndrome","Cataract-microcephaly-arthrogryposis-kyphosis syndrome","Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome"]],[1318,"Campomelia, Cumming type",["Cumming syndrome"]],[1319,"Camptobrachydactyly"],[1320,"Idiopathic camptocormia",["Idiopathic camptocormism","Idiopathic progressive lumbar kyphosis"]],[1321,"Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome",["Goodman camptodactyly"]],[1323,"Camptodactyly-joint contractures-facial skeletal defects syndrome",["Rozin camptodactyly syndrome"]],[1325,"Camptodactyly-taurinuria syndrome",["Familial streblodactyly with amino-aciduria"]],[1326,"Camptodactyly syndrome, Guadalajara type 2"],[1327,"Camptodactyly syndrome, Guadalajara type 1"],[1328,"Camurati-Engelmann disease",["Progressive diaphyseal dysplasia"]],[1329,"Complete atrioventricular septal defect",["CAVC","Complete AVSD","Complete atrioventricular canal","Complete atrioventricular canal defect","Complete atrioventricular septal defect with atrial and ventricular components"]],[1330,"Partial atrioventricular septal defect",["PAVC","Partial AVSD","Partial atrioventricular canal defect"]],[1331,"NON RARE IN EUROPE: Familial prostate cancer"],[1332,"Medullary thyroid carcinoma",["MTC"]],[1333,"Familial pancreatic carcinoma",["Familial pancreatic cancer"]],[1334,"Chronic mucocutaneous candidiasis",["CMC"]],[1335,"Pentalogy of Cantrell",["Cantrell deformity","Cantrell syndrome","Thoraco-abdominal syndrome"]],[1336,"Hyperkeratosis-hyperpigmentation syndrome"],[1338,"Heart defect-tongue hamartoma-polysyndactyly syndrome",["Ostravik-Lindemann-Solberg syndrome"]],[1339,"OBSOLETE: Cranioacrofacial syndrome",["OBSOLETE: Grosse syndrome"]],[1340,"Cardiofaciocutaneous syndrome",["CFC syndrome"]],[1342,"Heart-hand syndrome type 3",["Atriodigital dysplasia type 3","Cardiomelic syndrome type 3","Heart-hand syndrome, Spanish type","Heart-limb syndrome type 3"]],[1344,"Isolated atrial standstill",["Isolated atrial cardiomyopathy with heart block"]],[1345,"Cardiomyopathy-cataract-hip spine disease syndrome",["Krasnow-Qazi syndrome"]],[1349,"Mitochondrial DNA-related cardiomyopathy and hearing loss",["Maternally-inherited cardiomyopathy and deafness","mtDNA-related cardiomyopathy and deafness","mtDNA-related cardiomyopathy and hearing loss","tRNA-LYS-related cardiomyopathy-hearing loss syndrome"]],[1350,"Heart-hand syndrome type 2",["Atriodigital dysplasia type 2","Tabatznik syndrome"]],[1352,"Atrioventricular defect-blepharophimosis-radial and anal defect syndrome",["Houlston-Ironton-Temple syndrome"]],[1354,"Heart defects-limb shortening syndrome"],[1355,"Congenital heart defect-round face-developmental delay syndrome",["Sonoda syndrome"]],[1358,"Carey-Fineman-Ziter syndrome",["Myopathy-Moebius-Robin syndrome"]],[1359,"Carney complex",["Carney syndrome","Myxoma-spotty pigmentation-endocrine overactivity syndrome"]],[1361,"Carnosinase deficiency"],[1366,"Autosomal recessive palmoplantar keratoderma and congenital alopecia",["Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia","Cataract-alopecia-sclerodactyly syndrome","PPK-CA, Wallis type","Palmoplantar keratoderma and congenital alopecia, Wallis type"]],[1368,"Cataract-ataxia-deafness syndrome",["Cataract-ataxia-hearing loss syndrome"]],[1369,"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome",["Sengers syndrome"]],[1373,"Cataract-aberrant oral frenula-growth delay syndrome",["Wellesley-Carman-French syndrome"]],[1375,"Cataract-hypertrichosis-intellectual disability syndrome",["CAHMR syndrome"]],[1376,"OBSOLETE: Congenital cataract-ichthyosis syndrome"],[1377,"Cataract-microcornea syndrome"],[1380,"Cataract-nephropathy-encephalopathy syndrome",["Crome syndrome"]],[1381,"OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome",["OBSOLETE: Karandikar-Maria-Kamble syndrome"]],[1383,"Cataract-deafness-hypogonadism syndrome",["Cataract-hearing loss-hypogonadism syndrome","Schaap-Taylor-Baraitser syndrome"]],[1387,"Cataract-intellectual disability-hypogonadism syndrome",["Martsolf syndrome"]],[1388,"Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome",["Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome"]],[1389,"Cortical blindness-intellectual disability-polydactyly syndrome"],[1390,"Night blindness-skeletal anomalies-dysmorphism syndrome",["Hunter-Thompson-Reed syndrome"]],[1393,"Cerebrocostomandibular syndrome"],[1394,"Cerebrofaciothoracic dysplasia",["Pascual-Castroviejo syndrome type 1"]],[1396,"OBSOLETE: Cerebrorenodigital syndrome"],[1397,"Hydrocephaly-cerebellar agenesis syndrome"],[1398,"Isolated cerebellar agenesis",["Near total absence of cerebellum","Subtotal absence of cerebellum"]],[1399,"Richards-Rundle syndrome",["Ketoaciduria-intellectual disability-ataxia-deafness syndrome","Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome"]],[1401,"CHAND syndrome",["Baughman syndrome","CHANDS","Curly hair-ankyloblepharon-nail dysplasia syndrome"]],[1406,"Charlie M syndrome"],[1408,"Hair defect-photosensitivity-intellectual disability syndrome",["Calderón-González-Cantu syndrome"]],[1409,"Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome",["Salamon syndrome"]],[1410,"Uncombable hair syndrome",["Pili trianguli et canaliculi"]],[1412,"Tarsal-carpal coalition syndrome"],[1414,"Cholestasis-lymphedema syndrome",["Aagenaes syndrome"]],[1415,"Hardikar syndrome",["Cholestasis-pigmentary retinopathy-cleft palate syndrome","HDKR","MED12-related Hardikar syndrome"]],[1416,"Familial calcium pyrophosphate deposition",["Calcium pyrophosphate dihydrate crystal deposition disease","Familial CC","Familial CPPD","Familial articular chondrocalcinosis","Hereditary CC","Hereditary articular chondrocalcinosis","Hereditary calcium pyrophosphate deposition"]],[1417,"OBSOLETE: Platyspondylic lethal chondrodysplasia",["OBSOLETE: Akaba-Hayasaka syndrome"]],[1420,"OBSOLETE: Lethal chondrodysplasia, Moerman type",["OBSOLETE: Moerman-Vandenberghe-Fryns syndrome"]],[1421,"OBSOLETE: Lethal chondrodysplasia, Seller type"],[1422,"Chondrodysplasia-difference of sex development syndrome",["Chondrodysplasia-disorder of sex development syndrome","Chondrodysplasia-pseudohermaphroditism syndrome","Nivelon-Nivelon-Mabille syndrome"]],[1423,"Lethal recessive chondrodysplasia",["Maroteaux-Stanescu-Cousin syndrome"]],[1425,"Desbuquois syndrome",["DBQD","Desbuquois dysplasia"]],[1426,"Greenberg dysplasia",["HEM dysplasia","Hydrops-ectopic calcification-motheaten syndrome","Skeletal dysplasia, Greenberg type"]],[1427,"Autosomal recessive otospondylomegaepiphyseal dysplasia",["OSMED"]],[1428,"OBSOLETE: Familial chondromalacia patellae"],[1429,"Benign hereditary chorea",["BHC","Benign familial chorea"]],[1431,"Paroxysmal dyskinesia",["Paroxysmal choreoathetosis","Paroxysmal dystonic choreoathetosis"]],[1432,"Autosomal dominant chorioretinopathy-microcephaly syndrome"],[1433,"Choroidal atrophy-alopecia syndrome",["Moloney syndrome","Regional choroidal atrophy and alopecia"]],[1434,"OBSOLETE: Choroideremia-hypopituitarism syndrome",["OBSOLETE: CHM-hypopituitarism syndrome"]],[1435,"Xq21 microdeletion syndrome",["Ayazi syndrome","Del(X)(q21)","Monosomy Xq21"]],[1436,"X-linked skeletal dysplasia-intellectual disability syndrome",["Christian syndrome"]],[1437,"Ring chromosome 1 syndrome",["Ring 1","Ring chromosome 1","r(1) syndrome"]],[1438,"Ring chromosome 10 syndrome",["Ring 10","Ring chromosome 10"]],[1439,"Ring chromosome 12 syndrome",["Ring 12","Ring chromosome 12"]],[1440,"Ring chromosome 14 syndrome",["Ring 14","Ring chromosome 14"]],[1441,"Ring chromosome 17 syndrome",["Ring 17","Ring chromosome 17"]],[1442,"Ring chromosome 18 syndrome",["Ring 18","Ring chromosome 18"]],[1443,"Ring chromosome 19 syndrome",["Ring 19","Ring chromosome 19"]],[1444,"Ring chromosome 20 syndrome",["Ring 20","Ring chromosome 20"]],[1445,"Ring chromosome 21 syndrome"],[1446,"Ring chromosome 22 syndrome",["Ring 22","Ring chromosome 22","r(22) syndrome"]],[1447,"Ring chromosome 4 syndrome",["Syndrome r(4)","r(4) syndrome","Ring 4","Ring chromosome 4"]],[1448,"Ring chromosome 6 syndrome",["Ring 6","Ring chromosome 6"]],[1449,"Ring chromosome 7 syndrome",["Ring 7","Ring chromosome 7"]],[1450,"Ring chromosome 8 syndrome",["Ring 8","Ring chromosome 8","r(8) syndrome"]],[1451,"CINCA syndrome",["Chronic infantile neurological cutaneous and articular syndrome","IOMID syndrome","Infantile-onset multisystem inflammatory disease","NOMID syndrome","Neonatal-onset multisystem inflammatory disease","Prieur-Griscelli syndrome"]],[1452,"Cleidocranial dysplasia",["Cleidocranial dysostosis"]],[1453,"Cleidorhizomelic syndrome",["Rhizomelic shortness with clavicular defect","Wallis-Zieff-Goldblatt syndrome"]],[1454,"Joubert syndrome with hepatic defect",["COACH syndrome","Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis","Gentile syndrome","JS-H","Joubert syndrome with congenital hepatic fibrosis"]],[1455,"OBSOLETE: Autosomal dominant coarctation of aorta"],[1456,"Middle aortic syndrome",["Abdominal coarctation","Coarctation of the abdominal aorta","MAC","Mid-aortic dysplastic syndrome","Mid-aortic syndrome","Midaortic syndrome","Middle aortic coarctation"]],[1457,"Coarctation of aorta",["Aorta coarctation"]],[1458,"CODAS syndrome",["Cerebrooculodentoauriculoskeletal syndrome"]],[1459,"Celiac disease-epilepsy-cerebral calcification syndrome",["CEC"]],[1460,"Isolated complex III deficiency",["Isolated CoQ-cytochrome C reductase deficiency","Isolated coenzyme Q-cytochrome C reductase deficiency","Isolated mitochondrial respiratory chain complex III deficiency","Isolated ubiquinone-cytochrome C reductase deficiency"]],[1461,"Criss-cross heart",["Criss-cross atrioventricular relationships","Superoinferior ventricles","Twisted atrioventricular connections"]],[1463,"Triatrial heart",["Cor triatriatum"]],[1464,"Univentricular heart",["Double inlet atrioventricular connection"]],[1465,"Coffin-Siris syndrome",["CSS"]],[1466,"COFS syndrome",["Cerebrooculofacioskeletal syndrome","Pena-Shokeir syndrome type 2"]],[1467,"Cogan syndrome"],[1471,"Sorsby syndrome",["Coloboma of macula-brachydactyly type B syndrome"]],[1473,"Uveal coloboma-cleft lip and palate-intellectual disability"],[1474,"Colobomatous-microphthalmia-heart disease-hearing loss syndrome",["Hittner-Hirsch-Kreh syndrome"]],[1475,"Renal coloboma syndrome",["Coloboma of optic nerve with renal disease","Papillo-renal syndrome"]],[1478,"Interatrial communication",["ASD","Atrial septal defect","Interauricular communication"]],[1479,"Atrial septal defect-atrioventricular conduction defects syndrome"],[1480,"NON RARE IN EUROPE: Ventricular septal defect",["NON RARE IN EUROPE: Interventricular communication","NON RARE IN EUROPE: VSD"]],[1482,"Gonococcal conjunctivitis"],[1484,"Contractures-ectodermal dysplasia-cleft lip/palate syndrome",["Ladda-Zonana-Ramer syndrome"]],[1485,"Arthrogryposis-hyperkeratosis syndrome, lethal form",["Johnston-Aarons-Schelley syndrome"]],[1486,"Lethal congenital contracture syndrome type 1",["Herva disease","LCCS1","Multiple contracture syndrome, Finnish type"]],[1487,"Cooks syndrome",["Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome","ODP"]],[1488,"Cooper-Jabs syndrome",["Aural atresia-multiple congenital anomalies-intellectual disability syndrome"]],[1489,"Whooping cough",["Pertussis"]],[1490,"Corneal dystrophy-perceptive deafness syndrome",["CDPD","Corneal dystrophy with progressive deafness","Corneal dystrophy with progressive hearing loss","Corneal dystrophy-perceptive hearing loss syndrome","Harboyan syndrome"]],[1492,"OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome",["OBSOLETE: Ben Ari-Shuper-Mimouni syndrome"]],[1493,"Vici syndrome",["Corpus callosum agenesis-cataract-immunodeficiency syndrome","Dionisi-Vici-Sabetta-Gambarara syndrome"]],[1495,"Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome",["Da Silva syndrome"]],[1496,"Corpus callosum agenesis-neuronopathy syndrome",["Andermann syndrome","Charlevoix disease"]],[1497,"X-linked complicated corpus callosum dysgenesis"],[1499,"OBSOLETE: Cortada-Koussef-Matsumoto syndrome"],[1501,"Adrenocortical carcinoma",["ACC"]],[1505,"Short rib-polydactyly syndrome"],[1506,"Thin ribs-tubular bones-dysmorphism syndrome",["Sharma-Kapoor-Ramji syndrome"]],[1507,"Autosomal recessive Robinow syndrome",["COVESDEM syndrome","Costovertebral segmentation defect-mesomelia syndrome","RRS"]],[1508,"Coxoauricular syndrome"],[1509,"Coxopodopatellar syndrome",["Ischiocoxopodopatellar syndrome","Ischiopatellar dysplasia","Ischiopubicpatellar syndrome","SPS","Scott-Taor syndrome","Small patella syndrome"]],[1512,"Crane-Heise syndrome"],[1513,"Craniodiaphyseal dysplasia"],[1514,"Craniodigital-intellectual disability syndrome",["Scott craniodigital syndrome","Scott-Bryant-Graham syndrome"]],[1515,"Cranioectodermal dysplasia",["CED","Sensenbrenner syndrome"]],[1516,"Non-syndromic bilambdoid and sagittal craniosynostosis",["BLSS","Bilateral lambdoid and sagittal synostosis","Isolated sagittal and bilambdoid craniosynostosis","Non-syndromic sagittal and bilateral lambdoid synostosis"]],[1517,"Cantú syndrome",["Congenital hypertrichosis-acromegaloid facial features spectrum","Congenital hypertrichosis-coarse facial features spectrum","Hypertrichotic osteochondrodysplasia"]],[1519,"SPECC1L-related hypertelorism syndrome",["Brachycephalofrontonasal dysplasia","Teebi hypertelorism syndrome"]],[1520,"Craniofrontonasal dysplasia",["CFND","CFNS","Craniofrontonasal syndrome"]],[1521,"Craniofrontonasal dysplasia-Poland anomaly syndrome",["Webster-Deming syndrome"]],[1522,"Craniometaphyseal dysplasia"],[1524,"Craniomicromelic syndrome"],[1525,"Cranio-osteoarthropathy",["Currarino disease","Currarino idiopathic osteoarthropathy","Reginato-Schiapachasse syndrome"]],[1526,"OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome",["OBSOLETE: Acro-cephalo-synostosis","OBSOLETE: Allain-Babin-Demarquez syndrome"]],[1527,"Craniosynostosis, Philadelphia type"],[1528,"Craniotelencephalic dysplasia"],[1529,"Craniofacial-deafness-hand syndrome",["CDHS","Craniofacial-hearing loss-hand syndrome","Sommer-Young-Wee-Frye syndrome"]],[1530,"OBSOLETE: Craniosynostosis-cataract syndrome"],[1531,"Craniosynostosis"],[1532,"Gómez-López-Hernández syndrome",["Cerebellotrigeminal-dermal dysplasia syndrome","Craniosynostosis-alopecia-brain defect syndrome"]],[1533,"OBSOLETE: Craniosynostosis-fibular aplasia syndrome",["OBSOLETE: Lowry syndrome"]],[1534,"OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type",["OBSOLETE: Imaizumi-Kuroki syndrome"]],[1535,"Craniosynostosis-dysmorphism-brachydactyly syndrome",["Glass-Chapman-Hockley syndrome"]],[1538,"Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome",["Braddock-Jones-Superneau syndrome"]],[1540,"Jackson-Weiss syndrome",["Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome","JWS"]],[1541,"Craniosynostosis, Boston type",["Craniosynostosis, Warman type","Warman-Mulliken-Hayward syndrome"]],[1544,"Benign focal seizures of adolescence",["Adolescent benign focal crisis","BFSA"]],[1545,"Crisponi syndrome"],[1546,"Cryptococcosis"],[1547,"Cryptomicrotia-brachydactyly-excess fingertip arch syndrome",["Cryptomicrotia-brachydactyly syndrome","Tonoki-Ohura-Niikawa syndrome"]],[1548,"Cryptorchidism-arachnodactyly-intellectual disability syndrome",["Van Benthem-Driessen-Hanveld syndrome"]],[1549,"OBSOLETE: Cryptosporidiosis"],[1551,"Familial benign copper deficiency",["Familial benign hypocupremia"]],[1552,"Currarino syndrome",["Currarino triad"]],[1553,"Curry-Jones syndrome",["Corpus callosum agenesis-polysyndactyly syndrome"]],[1555,"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome",["Beare-Stevenson cutis gyrata syndrome"]],[1556,"Cutis marmorata telangiectatica congenita",["CMTC"]],[1557,"Cutis verticis gyrata-intellectual disability syndrome",["McDowall syndrome"]],[1560,"Cysticercosis"],[1561,"Fatal infantile cytochrome C oxidase deficiency",["Fatal infantile COX deficiency","Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency"]],[1562,"OBSOLETE: Dacryocystitis-osteopoikilosis syndrome",["OBSOLETE: Gunal-Seber-Basaran syndrome"]],[1563,"Dahlberg-Borer-Newcomer syndrome",["Dahlberg syndrome","Lymphedema-hypoparathyroidism syndrome"]],[1564,"Dandy-Walker malformation-facial hemangioma syndrome",["Dandy-Walker malformation-facial haemangioma syndrome"]],[1566,"Dandy-Walker malformation-postaxial polydactyly syndrome",["DWM with postaxial polydactyly","Pierquin syndrome"]],[1568,"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome",["Pettigrew Syndrome","AP1S2-related neurodevelopmental disorder","AP1S2-related X-linked intellectual disability"]],[1569,"De Sanctis-Cacchione syndrome",["Xeroderma pigmentosum with neurologic manifestation"]],[1570,"Symbrachydactyly of hands and feet",["De Smet-Fabry-Fryns syndrome"]],[1571,"Knobloch syndrome",["Knobloch-Layer syndrome","Retinal detachment-occipital encephalocele syndrome"]],[1572,"OBSOLETE: Common variable immunodeficiency",["OBSOLETE: CVID"]],[1573,"Hypotrichosis with juvenile macular degeneration",["HJMD","Hypotrichosis with juvenile macular dystrophy"]],[1574,"Retinal degeneration-nanophthalmos-glaucoma syndrome",["Mackay-Shek-Carr syndrome"]],[1575,"OBSOLETE: Infantile striatothalamic degeneration"],[1576,"Infantile bilateral striatal necrosis",["Infantile striatonigral degeneration","Infantile striatonigral necrosis","IBSN"]],[1577,"OBSOLETE: Infantile thalamic degeneration"],[1578,"Pterin-4 alpha-carbinolamine dehydratase deficiency",["Hyperphenylalaninemia due to dehydratase deficiency","Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency","Hyperphenylalaninemia with primapterinuria"]],[1580,"Distal deletion 10p syndrome",["Distal monosomy 10p","Monosomy 10pter","Telomeric deletion 10p"]],[1581,"Non-distal deletion 10q syndrome",["Non-distal monosomy 10q","Non-telomeric monosomy 10q"]],[1587,"Monosomy 13q14 syndrome",["Del(13)(q14)","Deletion 13q14"]],[1590,"Distal deletion 13q syndrome",["13q32 deletion","Deletion 13q32","Distal monosomy 13q","Monosomy 13q32","Telomeric deletion 13q"]],[1596,"Distal deletion 15q syndrome",["15q26 deletion syndrome","Distal monosomy 15q","Monosomy 15q26","Telomeric 15q deletion syndrome"]],[1597,"Distal deletion 17q syndrome",["Distal monosomy 17q","Monosomy 17qter","Telomeric deletion 17q"]],[1598,"Monosomy 18p syndrome",["18p- syndrome","De Grouchy syndrome type 1"]],[1600,"Monosomy 18q syndrome",["18q deletion syndrome","18q- syndrome","De Grouchy syndrome type 2","Deletion 18q"]],[1606,"1p36 deletion syndrome",["Del(1)(p36)","Deletion 1p36","Deletion 1pter","Monosomy 1p36","Monosomy 1pter","Subtelomeric 1p36 deletion"]],[1611,"OBSOLETE: Deletion 20p",["OBSOLETE: Monosomy 20p"]],[1617,"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion",["Del(2)(q24)","Monosomy 2q24"]],[1620,"Distal deletion 3p syndrome",["3p deletion syndrome","3p- syndrome","Distal monosomy 3p","Monosomy 3pter","Telomeric monosomy 3p"]],[1621,"3q13 microdeletion syndrome",["Del(3)(q13)","Monosomy 3q13"]],[1625,"OBSOLETE: Deletion 4q",["OBSOLETE: Monosomy 4q"]],[1627,"Deletion 5q35 syndrome",["Del (5)(q35)","Del (5)(qter)","Distal 5q deletion","Monosomy 5q35","Telomeric deletion 5q"]],[1636,"Distal monosomy 7q36 syndrome",["Distal deletion 7q36","Monosomy 7qter","Telomeric deletion 7q36"]],[1642,"Distal deletion 9p syndrome",["Distal monosomy 9p","Monosomy 9pter","Telomeric deletion 9p"]],[1643,"Xp22.3 microdeletion syndrome",["Del(X)(p23)"]],[1646,"Chromosome Y microdeletion syndrome",["Male infertility due to chromosome Y microdeletion","Microdeletion of the AZF region on the Y chromosome"]],[1647,"Oculocerebrocutaneous syndrome",["Delleman syndrome","Delleman-Oorthuys syndrome","Leichtman-Wood-Rohn syndrome","OCCS","Orbital cyst with cerebral and focal dermal malformations"]],[1648,"NON RARE IN EUROPE: Dementia with Lewy body",["NON RARE IN EUROPE: Cortical Lewy body disease","NON RARE IN EUROPE: DLB","NON RARE IN EUROPE: Diffuse Lewy body disease","NON RARE IN EUROPE: Lewy body dementia"]],[1651,"OBSOLETE: Dennis-Cohen syndrome"],[1652,"Dent disease",["Dent syndrome","Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis","Renal Fanconi syndrome with nephrocalcinosis and renal stones","X-linked recessive hypercalciuric hypophosphatemic rickets","X-linked recessive nephrolithiasis"]],[1653,"Dentin dysplasia",["DD"]],[1654,"OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome"],[1655,"Müllerian derivatives-lymphangiectasia-polydactyly syndrome",["Urioste syndrome"]],[1656,"Dermatitis herpetiformis",["Duhring-Brocq disease"]],[1657,"Dermatoosteolysis, Kirghizian type"],[1658,"Absence of fingerprints-congenital milia syndrome",["Absence of dermatoglyphics-congenital milia syndrome","Baird syndrome","Basan-Baird syndrome"]],[1659,"Dermatoleukodystrophy",["Cutis laxa-leukodystrophy"]],[1660,"Dermoodontodysplasia"],[1661,"X-linked corneal dermoid",["Corneal dystrophy epithelial-short stature syndrome","Guízar Vázquez-Luengas-Muñoz syndrome"]],[1662,"Restrictive dermopathy",["Lethal hyperkeratosis-contracture syndrome","Lethal restrictive dermopathy","Lethal tight skin-contracture syndrome"]],[1664,"OBSOLETE: Embryonary disorganization syndrome"],[1665,"Sporadic fetal brain disruption sequence"],[1666,"Dextrocardia"],[1667,"Wolcott-Rallison syndrome",["Early-onset diabetes mellitus with multiple epiphyseal dysplasia","WRS"]],[1670,"Chronic diarrhea with villous atrophy"],[1671,"Split cord malformation type I",["Diastematomyelia","SCM type 1","SCM type I","Split cord malformation type 1"]],[1672,"Diencephalic syndrome",["Diencephalic cachexia","Diencephalic syndrome of childhood","Diencephalic syndrome of emaciation","Russell diencephalic cachexia","Russell syndrome"]],[1674,"Digitorenocerebral syndrome",["DRC syndrome","Eronen-Somer-Gustafsson syndrome"]],[1675,"Dihydropyrimidine dehydrogenase deficiency",["Familial pyrimidinemia"]],[1676,"Idiopathic pulmonary artery dilatation"],[1677,"Familial idiopathic dilatation of the right atrium"],[1678,"Dincsoy-Salih-Patel syndrome",["Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome"]],[1679,"Diphtheria"],[1680,"OBSOLETE: Spastic diplegia, infantile type",["OBSOLETE: Little syndrome"]],[1681,"Diprosopus",["Craniofacial duplication","Diprosopia"]],[1682,"Arterial dissection-lentiginosis syndrome"],[1683,"Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome"],[1685,"Distomatosis",["Distomiasis","Fluke infection"]],[1686,"Cardiac diverticulum"],[1692,"Mosaic trisomy 1 syndrome",["Mosaic trisomy chromosome 1","Trisomy 1 mosaicism"]],[1695,"Non-distal duplication 10q syndrome",["Non-distal trisomy 10q","Non-telomeric trisomy 10q"]],[1698,"Mosaic trisomy 12 syndrome",["Mosaic trisomy chromosome 12","Trisomy 12 mosaicism"]],[1699,"Trisomy 12p syndrome",["Duplication 12p"]],[1702,"Non-distal duplication 13q syndrome",["Non-distal trisomy 13q","Non-telomeric trisomy 13q"]],[1703,"Mosaic trisomy 14 syndrome",["Mosaic trisomy chromosome 14","Trisomy 14 mosaicism"]],[1705,"Distal duplication 14q syndrome",["Telomeric duplication 14q","Trisomy 14qter"]],[1706,"Mosaic trisomy 15 syndrome",["Mosaic trisomy chromosome 15","Trisomy 15 mosaicism"]],[1707,"Distal duplication 15q syndrome",["Distal trisomy 15q","Telomeric duplication 15q","Trisomy 15qter"]],[1708,"Mosaic trisomy 16 syndrome",["Mosaic trisomy chromosome 16","Trisomy 16 mosaicism"]],[1711,"Mosaic trisomy 17 syndrome",["Mosaic trisomy chromosome 17","Trisomy 17 mosaicism"]],[1713,"17p11.2 microduplication syndrome",["Potocki-Lupski syndrome","Trisomy 17p11.2"]],[1715,"Trisomy 18p syndrome",["Duplication 18p","Duplication of the short arm of chromosome 18","Trisomy of the short arm of chromosome 18"]],[1716,"Distal duplication 18q syndrome",["Distal trisomy 18q","Telomeric duplication 18q","Trisomy 18qter"]],[1717,"Distal duplication 19q syndrome",["Distal trisomy 19q","Telomeric duplication 19q","Trisomy 19qter"]],[1723,"Mosaic trisomy 2 syndrome",["Mosaic trisomy chromosome 2","Trisomy 2 mosaicism"]],[1724,"Mosaic trisomy 20 syndrome",["Mosaic trisomy chromosome 20","Trisomy 20 mosaicism"]],[1727,"22q11.2 duplication syndrome",["22q11.2 microduplication syndrome","Dup(22)(q11)","Duplication 22q11.2","Trisomy 22q11.2"]],[1738,"Trisomy 4p syndrome",["Duplication 4p","Duplication of the short arm of chromosome 4","Trisomy of the short arm of chromosome 4"]],[1739,"OBSOLETE: Duplication 4q",["OBSOLETE: Trisomy 4q"]],[1742,"Trisomy 5p syndrome",["Duplication 5p","Duplication of the short arm of chromosome 5","Trisomy of the short arm of chromosome 5"]],[1745,"Distal duplication 6p syndrome",["Distal trisomy 6p","Telomeric duplication 6p","Trisomy 6pter"]],[1747,"Mosaic trisomy 7 syndrome",["Mosaic trisomy chromosome 7","Trisomy 7 mosaicism"]],[1752,"Trisomy 8q syndrome",["Duplication 8q"]],[1756,"Caudal duplication",["Dipygus","Split notochord syndrome"]],[1757,"Fibular dimelia-diplopodia syndrome",["Leg duplication-mirror foot syndrome"]],[1759,"Thoraco-abdominal enteric duplication"],[1762,"Proximal Xq28 duplication syndrome",["MECP2 duplication syndrome","X-linked intellectual disability syndrome, Lubs type"]],[1764,"Familial dysautonomia",["HSAN3","Hereditary sensory and autonomic neuropathy type 3","Hereditary sensory and autonomic neuropathy type III","Riley-Day syndrome"]],[1765,"OBSOLETE: Dyschondrosteosis-nephritis syndrome"],[1766,"Dysequilibrium syndrome",["CAMRQ syndrome","Cerebellar ataxia-intellectual disability-dysequilibrium syndrome","Non-progressive cerebellar ataxia-intellectual disability syndrome","UTS","Uner Tan syndrome"]],[1767,"Familial progressive vestibulocochlear dysfunction"],[1768,"Familial caudal dysgenesis",["Rudd-Klimek syndrome"]],[1770,"XY type gonadal dysgenesis-associated anomalies syndrome"],[1772,"45,X/46,XY mixed gonadal dysgenesis",["45,X/46,XY MGD","45,X0/46,XY MGD","45,X0/46,XY mixed gonadal dysgenesis"]],[1773,"Sacrococcygeal dysgenesis association"],[1775,"Dyskeratosis congenita",["DC","DKC","Zinsser-Engman-Cole syndrome"]],[1777,"Temtamy syndrome",["Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome","Temtamy-Shalash syndrome"]],[1778,"Facial dysmorphism-shawl scrotum-joint laxity syndrome",["Seaver-Cassidy syndrome"]],[1779,"Dysmorphism-cleft palate-loose skin syndrome"],[1780,"Thakker-Donnai syndrome",["Dysmorphism-multiple structural anomalies syndrome"]],[1782,"Dysosteosclerosis"],[1784,"Acrofrontofacionasal dysostosis",["Richieri-Costa-Colletto syndrome"]],[1786,"Acrofacial dysostosis, Catania type",["Opitz-Caltabiano syndrome"]],[1787,"Acrofacial dysostosis, Palagonia type"],[1788,"Acrofacial dysostosis, Rodríguez type"],[1789,"OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome",["OBSOLETE: Van Biervliet-Hendrickx-van Ertbruggen syndrome"]],[1790,"Hypomandibular faciocranial dysostosis"],[1791,"Frontofacionasal dysplasia",["Gollop syndrome"]],[1792,"Humerospinal dysostosis"],[1794,"Oculomaxillofacial dysostosis",["Richieri-Costa-Gorlin syndrome"]],[1795,"OBSOLETE: Peripheral dysostosis"],[1797,"Autosomal dominant spondylocostal dysostosis",["Autosomal dominant spondylocostal dysplasia"]],[1798,"Craniofacial dysostosis-diaphyseal hyperplasia syndrome",["Autosomal dominant osteosclerosis, Stanescu type","Dysostosis, Stanescu type","Stanescu osteosclerosis"]],[1799,"Familial developmental dysphasia",["Billard-Toutain-Maheut syndrome","FOXP2-associated dysphasia"]],[1800,"OBSOLETE: Craniofaciocervical osteoglyphic dysplasia",["OBSOLETE: Bazopoulou-Kyrkanidou syndrome"]],[1801,"Kyphomelic dysplasia"],[1802,"Ghosal hematodiaphyseal dysplasia",["Ghosal syndrome","Diaphyseal dysplasia-anemia syndrome"]],[1803,"Thoracomelic dysplasia",["Rivera-Perez-Salas syndrome","Thoracolimb dysplasia, Rivera type"]],[1804,"Dyssegmental dysplasia-glaucoma syndrome"],[1806,"Ectodermal dysplasia-blindness syndrome"],[1807,"Focal facial dermal dysplasia type III",["FFDD type III","FFDD3","Focal facial dermal dysplasia 3, Setleis type","Setleis syndrome"]],[1808,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",["Christianson-Fourie syndrome"]],[1809,"Hidrotic ectodermal dysplasia, Halal type",["Halal-Setton-Wang syndrome","Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome"]],[1810,"Autosomal dominant hypohidrotic ectodermal dysplasia",["AD-HED"]],[1811,"Odontomicronychial dysplasia"],[1812,"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"],[1816,"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome",["Berlin syndrome","Ectodermal dysplasia, Berlin type"]],[1818,"Ectodermal dysplasia, trichoodontoonychial type"],[1819,"OBSOLETE: Epimetaphyseal skeletal dysplasia"],[1822,"Dysplasia epiphysealis hemimelica",["Trevor disease"]],[1823,"OBSOLETE: Localized epiphyseal dysplasia"],[1824,"Lowry-Wood syndrome",["Epiphyseal dysplasia-microcephaly-nystagmus syndrome"]],[1825,"Epiphyseal dysplasia-hearing loss-dysmorphism syndrome",["Epiphyseal dysplasia-deafness-dysmorphism syndrome","Finucane-Kurtz-Scott syndrome"]],[1826,"Frontometaphyseal dysplasia"],[1827,"Acromelic frontonasal dysplasia",["AFND","Acromelic frontonasal dysostosis","Toriello syndrome"]],[1830,"Schimke immuno-osseous dysplasia",["Schimke syndrome","Spondyloepiphyseal dysplasia-nephrotic syndrome"]],[1831,"De Hauwere syndrome",["De Hauwere-Chitty syndrome","Iris dysplasia-hypertelorism-deafness syndrome","Iris dysplasia-hypertelorism-hearing loss syndrome"]],[1832,"Osteosclerotic bone dysplasia",["Raine syndrome"]],[1834,"Axial mesodermal dysplasia spectrum",["Blastogenesis defect","Russell-Weaver-Bull syndrome"]],[1836,"Mesomelic dysplasia, Kantaputra type",["Kantaputra mesomelic dysplasia","MDK","Mesomelic dysplasia, Thai type"]],[1837,"Metaphyseal chondrodysplasia, Rosenberg type",["Rosenberg-Lohr syndrome"]],[1838,"Metaphyseal dysplasia without hypotrichosis",["Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome"]],[1839,"Hereditary mucoepithelial dysplasia",["Urban-Schosser-Spohn syndrome"]],[1842,"OBSOLETE: Bone dysplasia, lethal Holmgren type",["OBSOLETE: Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type"]],[1844,"OBSOLETE: Bone dysplasia, Azouz type"],[1848,"Renal agenesis, bilateral"],[1849,"OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome"],[1850,"Renal dysplasia-megalocystis-sirenomelia syndrome",["Selig-Benacerraf-Greene syndrome"]],[1851,"Multicystic dysplastic kidney",["MCDK","Multicystic renal dysplasia"]],[1852,"OBSOLETE: X-linked retinal dysplasia"],[1855,"Spondyloenchondrodysplasia",["SPENCD","Spondyloenchondromatosis","Spondylometaphyseal dysplasia with enchondromatous changes"]],[1856,"Spondyloperipheral dysplasia-short ulna syndrome"],[1858,"Skeletal dysplasia-epilepsy-short stature syndrome",["Gurrieri-Sammito-Bellussi syndrome"]],[1860,"Thanatophoric dysplasia type 1",["TD1","Thanatophoric dwarfism type 1"]],[1861,"Thoracic dysplasia-hydrocephalus syndrome"],[1863,"NON RARE IN EUROPE: Trochlear dysplasia",["NON RARE IN EUROPE: Femoral trochlear groove insufficiency","NON RARE IN EUROPE: Hypoplasia of the femoral trochlea"]],[1864,"OBSOLETE: Congenital valvular dysplasia"],[1865,"Dyssegmental dysplasia, Silverman-Handmaker type"],[1866,"Focal, segmental or multifocal dystonia"],[1867,"Hereditary bullous dystrophy, macular type"],[1871,"Progressive cone dystrophy",["Cone dystrophy"]],[1872,"Cone rod dystrophy"],[1873,"Jalili syndrome",["Cone rod dystrophy-amelogenesis imperfecta syndrome"]],[1875,"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome",["Bassoe syndrome"]],[1876,"Oculogastrointestinal muscular dystrophy",["Visceral myopathy-familial external ophthalmoplegia syndrome"]],[1877,"Muscular dystrophy-white matter spongiosis syndrome"],[1878,"TRIM32-related limb-girdle muscular dystrophy R8",["Autosomal recessive limb-girdle muscular dystrophy type 2H","LGMD due to TRIM32 deficiency","LGMD type 2H","LGMD2H","Limb-girdle muscular dystrophy due to TRIM32 deficiency","Limb-girdle muscular dystrophy type 2H","Sarcotubular myopathy","TRIM32-related LGMD R8"]],[1879,"Melorheostosis with osteopoikilosis",["MSBD syndrome","Mixed sclerosing bone dystrophy"]],[1880,"Ebstein malformation of the tricuspid valve",["Ebstein anomaly of the tricuspid valve"]],[1882,"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome",["ANOTHER syndrome","HEDH syndrome"]],[1883,"Ectodermal dysplasia-sensorineural deafness syndrome",["Ectodermal dysplasia-sensorineural hearing loss syndrome"]],[1884,"Ectopia lentis-chorioretinal dystrophy-myopia syndrome",["Noble-Bass-Sherman syndrome"]],[1885,"Isolated ectopia lentis",["Ectopia lentis syndrome","Familial ectopia lentis"]],[1888,"Ectrodactyly-ectodermal dysplasia without clefting syndrome",["EEC syndrome without cleft lip/palate"]],[1889,"Ectrodactyly-cleft palate syndrome",["ECP syndrome"]],[1891,"Intellectual disability-spasticity-ectrodactyly syndrome",["Jancar syndrome"]],[1892,"Ectrodactyly-polydactyly syndrome"],[1894,"Ectrodactyly-spina bifida-cardiopathy syndrome",["Kasznica-Carlson-Coppedge syndrome"]],[1895,"Edinburgh malformation syndrome",["Typus Edinburgensis"]],[1896,"EEC syndrome",["Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome"]],[1897,"EEM syndrome",["Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"]],[1899,"Arthrochalasia Ehlers-Danlos syndrome",["Arthrochalasia EDS","Arthrochalasis multiplex congenita","EDS VII","Ehlers-Danlos syndrome type 7","Ehlers-Danlos syndrome, arthrochalasia type","aEDS"]],[1900,"Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency",["Cutis hyperelastica","EDS VIA","Ehlers-Danlos syndrome type 6A","Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency","Lysyl hydroxylase-deficient EDS","Ocular-scoliotic EDS","kEDS-PLOD1"]],[1901,"Dermatosparaxis Ehlers-Danlos syndrome",["Dermatosparaxis EDS","Ehlers-Danlos syndrome type 7C","Human dermatosparaxis EDS VIIC","dEDS"]],[1902,"Ehrlichiosis"],[1906,"Fetal valproate spectrum disorder",["Fetal valproate syndrome","Fetal valproic acid syndrome","Valproic acid embryopathy"]],[1908,"Aminopterin/methotrexate embryofetopathy",["Aminopterin embryopathy syndrome","Fetal aminopterin syndrome"]],[1909,"Indomethacin embryofetopathy",["Fetal indomethacin syndrome"]],[1910,"Fetal iodine syndrome"],[1911,"Cocaine embryofetopathy",["Fetal cocaine syndrome"]],[1912,"Fetal hydantoin syndrome",["Fetal dihydantoin syndrome","Phenytoin embryofetopathy"]],[1913,"Fetal trimethadione syndrome"],[1914,"Vitamin K antagonist embryofetopathy",["Vitamin K antagonist embryopathy","Warfarin embryofetopathy","Warfarin embryopathy","di Sala syndrome"]],[1915,"Fetal alcohol syndrome",["ARND","Alcohol-related birth defects","Alcohol-related neurodevelopmental disorder","FAS","FASD","Fetal alcohol spectrum disorders","ARBD"]],[1916,"Diethylstilbestrol syndrome",["DES syndrome","Diethylstilbestrol embryofetopathy","Distilbene embryofetopathy","DES embryofetopathy"]],[1917,"Fetal methylmercury syndrome",["Congenital Minamata disease","Fetal methylmercury poisoning","Intrauterine methylmercury poisoning","Prenatal methylmercury poisoning"]],[1918,"Fetal minoxidil syndrome",["Minoxidil antenatal exposure"]],[1919,"Phenobarbital embryopathy"],[1920,"Toluene embryopathy"],[1923,"Methimazole embryofetopathy",["MMI/CMZ embryofetopathy","MMI/CMZ embryopathy","Methimazole/carbimazole embryofetopathy","Methimazole/carbimazole embryopathy"]],[1926,"Diabetic embryopathy",["Diabetes-induced teratogenicity"]],[1927,"Emery-Nelson syndrome",["Hand and foot deformity-flat facies syndrome"]],[1928,"Congenital lobar emphysema",["Congenital lobar hyperinflation","Infantile lobar hyperinflation"]],[1929,"Rasmussen syndrome",["Rasmussen subacute encephalitis"]],[1930,"Herpes simplex virus encephalitis",["HSE","HSV encephalitis","HSVE","Herpes simplex meningo-encephalitis","Herpes simplex neuroinvasion","Herpetic encephalitis"]],[1931,"Frontal encephalocele",["Anterior encephalocele"]],[1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",["Booth-Haworth-Dilling syndrome","Mitochondrial encephalomyopathy-aminoacidopathy syndrome","mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"]],[1934,"Early infantile developmental and epileptic encephalopathy",["EIDEE","Early infantile epileptic encephalopathy with suppression-bursts","Ohtahara syndrome"]],[1935,"Early myoclonic encephalopathy",["Early myoclonic encephalopathy with suppression-bursts"]],[1937,"Eng-Strom syndrome",["Short stature-locking fingers syndrome"]],[1939,"OBSOLETE: Envenomization by Bothrops lanceolatus",["OBSOLETE: Envenomization by the Martinique lancehead viper"]],[1940,"Shoulder and thorax deformity-congenital heart disease syndrome"],[1941,"Juvenile absence epilepsy",["JAE"]],[1942,"Epilepsy with myoclonic-atonic seizures",["Doose syndrome","EMAS","EMAtS","Epilepsy with myoclonic-astatic seizures","MAE","Myoclonic atonic epilepsy","Myoclonic-astatic epilepsy in early childhood"]],[1943,"Early-onset progressive encephalopathy with migrant continuous myoclonus"],[1945,"Self-limited epilepsy with centrotemporal spikes",["BECRS","BECTS","BRE","Benign epilepsy of childhood with centrotemporal spikes","Benign familial epilepsy of childhood with rolandic spikes","Benign rolandic epilepsy","Centrotemporal epilepsy","Rolandic epilepsy","SeLECTS"]],[1946,"Amelocerebrohypohidrotic syndrome",["Epilepsy-dementia-amelogenesis imperfecta syndrome","Kohlschütter-Tönz syndrome"]],[1947,"Northern epilepsy",["CLN8 disease, Northern epilepsy variant","NCL, Northern epilepsy variant","Neuronal ceroid lipofuscinosis, Northern epilepsy variant","Progressive epilepsy-intellectual disability syndrome, Finnish type"]],[1948,"Epilepsy-microcephaly-skeletal dysplasia syndrome",["Battaglia-Neri syndrome"]],[1949,"Self-limited neonatal epilepsy",["BFNS","Benign familial neonatal convulsions","Benign familial neonatal epilepsy","Benign familial neonatal seizures","SeLNE"]],[1951,"Epilepsy-telangiectasia syndrome"],[1952,"Epiphyseal stippling-osteoclastic hyperplasia syndrome",["Pacman dysplasia"]],[1954,"Congenital lethal erythroderma"],[1955,"Spinocerebellar ataxia type 34",["Erythrokeratodermia with ataxia","SCA34","Spinocerebellar ataxia and erythrokeratodermia"]],[1956,"OBSOLETE: Erythromelalgia"],[1957,"Esthesioneuroblastoma",["Olfactory neuroblastoma"]],[1959,"Evans syndrome",["Immune pancytopenia","Autoimmune hemolytic anemia and autoimmune thrombocytopenia"]],[1962,"Exostoses-anetodermia-brachydactyly type E syndrome"],[1964,"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome",["Char-Douglas-Dungan syndrome"]],[1968,"Flat face-microstomia-ear anomaly syndrome",["Blepharophimosis-telecanthus-microstomia syndrome","Simosa craniofacial syndrome","Simosa-Penchaszadeh-Bustos syndrome"]],[1969,"Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome",["FACES syndrome","Friedman-Goodman syndrome"]],[1970,"Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome"],[1972,"Lethal faciocardiomelic dysplasia"],[1973,"Faciocardiorenal syndrome",["Eastman-Bixler syndrome"]],[1974,"Autosomal recessive faciodigitogenital syndrome",["Aarskog-like syndrome","Facio-digito-genital syndrome, Kuwait type","Teebi-Naguib-Alawadi syndrome"]],[1979,"Lipodystrophy due to peptidic growth factors deficiency",["Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency","Hoepffner-Dreyer-Reimers syndrome","Werner-like syndrome due to combined growth factor deficiency"]],[1980,"Bilateral striopallidodentate calcinosis",["BSPDC","Cerebrovascular ferrocalcinosis","Idiopathic basal ganglia calcification","PFBC","Primary familial brain calcification"]],[1981,"Fanconi syndrome-ichthyosis-dysmorphism syndrome",["Deal-Barrat-Dillon syndrome"]],[1983,"NON RARE IN EUROPE: Chronic fatigue syndrome",["NON RARE IN EUROPE: Chronic fatigue immune dysfunction syndrome","NON RARE IN EUROPE: Myalgic encephalomyelitis"]],[1984,"Fechtner syndrome",["Alport syndrome with leukocyte inclusions and macrothrombocytopenia"]],[1986,"Gollop-Wolfgang complex",["Bifid femur-monodactylous ectrodactyly syndrome"]],[1987,"Isolated femoral agenesis/hypoplasia",["CFD","CSF","Isolated congenital femoral deficiency","Isolated congenital short femur","Isolated femoral intercalary meromelia"]],[1988,"Femoral-facial syndrome",["FFS","FHUFS","Femoral hypoplasia-unusual facies syndrome"]],[1991,"Cleft lip with or without cleft palate",["Tessier cleft number 1,2"]],[1993,"Pai syndrome",["Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome"]],[1995,"OBSOLETE: Cleft lip-retinopathy syndrome",["OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome","OBSOLETE: Cleft lip-cone rod dystrophy syndrome","OBSOLETE: Cleft lip-progressive retinopathy syndrome"]],[1997,"Blepharo-cheilo-odontic syndrome",["BCD syndrome","Blepharocheilodontic syndrome","Clefting-ectropion-conical teeth syndrome","Ectropion inferior-cleft lip and/or palate syndrome","Elschnig syndrome","Lagophthalmia-cleft lip and palate syndrome"]],[2001,"Cleft lip/palate-intestinal malrotation-cardiopathy syndrome",["McPherson-Clemens syndrome"]],[2003,"Cleft lip/palate-deafness-sacral lipoma syndrome",["Cleft lip/palate-hearing loss-sacral lipoma syndrome","Lowry-Yong syndrome"]],[2004,"Laryngotracheoesophageal cleft",["LC","LTEC","Laryngo-tracheo-esophageal cleft","Laryngo-tracheo-esophageal diastema"]],[2005,"OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome",["OBSOLETE: Novak syndrome"]],[2006,"Median cleft lip/mandible",["Median cleft lower facial stage","Median cleft of the lower lip and mandible","Median mandibular cleft"]],[2007,"Alar cartilages hypoplasia-coloboma-telecanthus syndrome"],[2008,"Acrocardiofacial syndrome",["ACFS","CCGE syndrome","Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome"]],[2010,"Cleft palate-stapes fixation-oligodontia syndrome"],[2013,"Cleft palate-large ears-small head syndrome",["Say-Barber-Hobbs syndrome"]],[2014,"Cleft palate"],[2015,"Cleft palate-short stature-vertebral anomalies syndrome",["Mathieu-De Broca-Bony syndrome"]],[2016,"Cleft palate-lateral synechia syndrome",["CPLS syndrome"]],[2017,"Sternal cleft",["Sternum bifidum","Cleft sternum"]],[2019,"Femur-fibula-ulna complex",["FFU complex","Femur-fibula-ulna dysostosis","Femur-fibula-ulna syndrome"]],[2020,"Congenital fiber-type disproportion myopathy",["CFTDM"]],[2021,"Fibrochondrogenesis"],[2022,"Endocardial fibroelastosis",["Endomyocardial fibroelastosis"]],[2023,"Undifferentiated pleomorphic sarcoma",["UPS"]],[2024,"Hereditary gingival fibromatosis",["Autosomal dominant gingival fibromatosis","Autosomal dominant gingival hyperplasia","Hereditary gingival hyperplasia"]],[2025,"Gingival fibromatosis-facial dysmorphism syndrome"],[2026,"Gingival fibromatosis-hypertrichosis syndrome",["CGHT","Congenital generalized hypertrichosis terminalis","Hirsutism-congenital gingival hyperplasia syndrome","Hypertrichosis with or without gingival hyperplasia"]],[2027,"Gingival fibromatosis-progressive deafness syndrome",["Gingival fibromatosis-progressive hearing loss syndrome","Jones syndrome"]],[2028,"Juvenile hyaline fibromatosis",["Murray-Puretic-Drescher syndrome","Puretic syndrome"]],[2029,"Multiple non-ossifying fibromatosis",["Jaffe-Campanacci syndrome"]],[2030,"Fibrosarcoma"],[2031,"Hepatic fibrosis-renal cysts-intellectual disability syndrome",["Thompson-Baraitser syndrome"]],[2032,"Idiopathic pulmonary fibrosis",["IPF"]],[2033,"OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome"],[2034,"Filariasis"],[2035,"Lymphatic filariasis"],[2036,"Scalp-ear-nipple syndrome",["Finlay-Marks syndrome"]],[2037,"Congenital aortopulmonary window",["Congenital aortopulmonary artery fistula","Congenital aortopulmonary septal defect"]],[2038,"Pulmonary arteriovenous malformation",["PAVM"]],[2039,"OBSOLETE: Congenital systemic arteriovenous fistula"],[2040,"Congenital respiratory-biliary fistula"],[2041,"Coronary arterial fistula"],[2042,"OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome"],[2044,"Floating-Harbor syndrome"],[2045,"FLOTCH syndrome",["Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome"]],[2047,"Flynn-Aird syndrome"],[2048,"Foix-Chavany-Marie syndrome",["Bilateral anterior opercular syndrome","Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation","Facio-pharyngo-glosso-masticatory diplegia"]],[2050,"Cole-Carpenter syndrome",["Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome"]],[2051,"Fraser-like syndrome"],[2052,"Fraser syndrome",["Cryptophthalmos-syndactyly syndrome"]],[2053,"Freeman-Sheldon syndrome",["Craniocarpotarsal dysplasia","Craniocarpotarsal dystrophy","Distal arthrogryposis type 2A","Freeman-Burian syndrome","Whistling face syndrome"]],[2054,"OBSOLETE: Osteochondritis of tarsal/metatarsal bone"],[2055,"Growth deficiency-brachydactyly-dysmorphism syndrome",["Frias syndrome"]],[2056,"Essential fructosuria",["Fructokinase deficiency","Ketohexokinase deficiency"]],[2057,"Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome",["Frydman-Cohen-Karmon syndrome"]],[2058,"Fryns-Smeets-Thiry syndrome"],[2059,"Fryns syndrome",["Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome"]],[2060,"Fukuda-Miyanomae-Nakata syndrome"],[2062,"Progressive non-infectious anterior vertebral fusion",["Copenhagen syndrome","PAVF"]],[2063,"Splenogonadal fusion-limb defects-micrognathia syndrome",["SGFLD syndrome"]],[2064,"Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome",["Faulk-Epstein-Jones syndrome"]],[2065,"Galloway-Mowat syndrome",["Galloway syndrome","Microcephaly-hiatus hernia-nephrotic syndrome","Nephrosis-neuronal dysmigration syndrome"]],[2066,"Gamma-aminobutyric acid transaminase deficiency",["GABA transaminase deficiency"]],[2067,"GAPO syndrome",["Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome"]],[2069,"Gastrocutaneous syndrome"],[2070,"Eosinophilic gastroenteritis",["EGE","Eosinophilic enteritis","Eosinophilic gastroenterocolitis"]],[2072,"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",["Cardiovascular Gaucher disease","Gaucher disease type 3C","Gaucher-like disease"]],[2073,"Narcolepsy type 1",["Gélineau disease","Hypocretin/orexin deficiency syndrome","Narcolepsy-cataplexy"]],[2074,"Gemignani syndrome",["Spinocerebellar ataxia-amyotrophy-deafness syndrome","Spinocerebellar ataxia-amyotrophy-hearing loss syndrome"]],[2075,"Genitopalatocardiac syndrome",["Gardner-Silengo-Wachtel syndrome"]],[2076,"X-linked intellectual disability-epilepsy syndrome"],[2077,"German syndrome",["Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome"]],[2078,"Geroderma osteodysplastica"],[2081,"Cerebral gigantism-jaw cysts syndrome",["Cramer-Niederdellmann syndrome"]],[2083,"Prominent glabella-microcephaly-hypogenitalism syndrome",["MacDermot-Winter syndrome"]],[2084,"Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome",["GEMSS syndrome"]],[2085,"Glaucoma-sleep apnea syndrome"],[2086,"Optic pathway glioma"],[2087,"Glomerulonephritis-sparse hair-telangiectasis syndrome"],[2088,"Fanconi-Bickel syndrome",["GSD due to GLUT2 deficiency","Glycogen storage disease due to GLUT2 deficiency","Glycogenosis due to GLUT2 deficiency"]],[2089,"Glycogen storage disease due to hepatic glycogen synthase deficiency",["GSD due to hepatic glycogen synthase deficiency","GSD type 0a","Glycogen storage disease due to liver glycogen synthase deficiency","Glycogen storage disease type 0a","Glycogenosis type 0a"]],[2090,"GMS syndrome",["Goniodysgenesis-intellectual disability-short stature syndrome"]],[2091,"Multinodular goiter-cystic kidney-polydactyly syndrome",["Daneman-Davy-Mancer syndrome","Thyroid-renal-digital anomalies"]],[2092,"Focal dermal hypoplasia",["Goltz syndrome","Goltz-Gorlin syndrome"]],[2095,"Gorlin-Chaudhry-Moss syndrome",["Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome","Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome","Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome","GCM syndrome"]],[2097,"Grant syndrome"],[2098,"Acromesomelic dysplasia, Grebe type",["Chondrodysplasia, Grebe type"]],[2099,"OBSOLETE: Grix-Blankenship-Peterson syndrome",["OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome"]],[2101,"Grubben-de Cock-Borghgraef syndrome",["Developmental delay-hypotonia-extremities hypertrophy syndrome"]],[2102,"GTP cyclohydrolase I deficiency",["GTPCH deficiency","Hyperphenylalaninemia due to GTP cyclohydrolase deficiency"]],[2103,"Guillain-Barré syndrome",["GBS","Guillain-Barré-Strohl syndrome"]],[2104,"Dysmorphism-pectus carinatum-joint laxity syndrome",["Guízar Vázquez-Sánchez-Manzano syndrome"]],[2107,"Hall-Riggs syndrome"],[2108,"Hallermann-Streiff syndrome",["François dyscephalic syndrome","Oculomandibulofacial syndrome"]],[2109,"Severe Hallermann-Streiff syndrome",["Hallermann-Streiff-François syndrome, severe form","Severe Hallermann-Streiff-François syndrome","Dennis-Fairhurst-Moore syndrome"]],[2110,"Hallux varus-preaxial polysyndactyly syndrome",["Kleiner-Holmes syndrome"]],[2111,"Cystic hamartoma of lung and kidney",["Graham-Boyle-Troxell syndrome"]],[2112,"OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome"],[2113,"Congenital hypothalamic hamartoma syndrome",["CHHS"]],[2114,"Hip dysplasia, Beukes type",["BFHD","Beukes familial hip dysplasia","Cilliers-Beighton syndrome","Premature degenerative osteoarthropathy of the hip"]],[2115,"Harrod syndrome",["Cranio-facio-digito-genital syndrome"]],[2116,"Hartnup disease",["Aminoaciduria, Hartnup type","Hartnup disorder"]],[2117,"Hartsfield syndrome",["Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome"]],[2118,"Hawkinsinuria",["4-HPPD deficiency","4-alpha-hydroxyphenylpyruvate hydroxylase deficiency","4-hydroxyphenylpyruvic acid dioxygenase deficiency"]],[2119,"HEC syndrome",["Hydrocephalus-endocardial fibroelastosis-cataract syndrome"]],[2120,"OBSOLETE: Heckenlively syndrome"],[2122,"Kaposiform hemangioendothelioma"],[2123,"Multifocal infantile hemangioma with extracutenous involvement",["Diffuse neonatal hemangiomatosis","Multifocal infantile haemangioma with extracutenous involvement"]],[2124,"Cavernous hemangiomas of face-supraumbilical midline raphe syndrome",["Cavernous haemangiomas of face-supraumbilical midline raphe syndrome"]],[2125,"Sacral hemangiomas-multiple congenital abnormalities syndrome"],[2126,"Solitary fibrous tumor",["SFT"]],[2128,"Isolated hemihyperplasia",["Hemi 3 syndrome","Hemicorporal hypertrophy","Isolated hemihypertrophy"]],[2129,"OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome",["OBSOLETE: HIPO syndrome"]],[2130,"Non-syndromic hemimelia",["Non-syndromic longitudinal meromelia"]],[2131,"Alternating hemiplegia of childhood",["AHC"]],[2132,"Hemoglobin C disease",["HbCC disease"]],[2133,"Hemoglobin E disease"],[2134,"Atypical hemolytic uremic syndrome",["Atypical HUS","aHUS"]],[2135,"Cutaneous mastocytosis-deafness-microtia syndrome",["Cutaneous mastocytosis-hearing loss-microtia syndrome","Mastocytosis-short stature-deafness syndrome","Mastocytosis-short stature-hearing loss syndrome"]],[2136,"Hennekam syndrome",["Lymphedema-lymphangiectasia-intellectual disability syndrome"]],[2137,"Autoimmune hepatitis",["AIH"]],[2138,"46,XX ovotesticular difference of sex development",["46,XX ovotesticular DSD","46,XX ovotesticular disorder of sex development"]],[2139,"Hernández-Aguirre Negrete syndrome",["Intellectual disability-epilepsy-bulbous nose syndrome"]],[2140,"Congenital diaphragmatic hernia",["CDH"]],[2141,"Diaphragmatic defect-limb deficiency-skull defect syndrome",["Froster-Huch syndrome"]],[2143,"Donnai-Barrow syndrome",["DBS/FOAR syndrome","Diaphragmatic hernia-exomphalos-hypertelorism syndrome","Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome","Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome","FOAR syndrome","Facio-oculo-acoustico-renal syndrome","Holmes-Schepens syndrome","Syndrome of ocular and facial anomalies, telecanthus and deafness","Syndrome of ocular and facial anomalies, telecanthus and hearing loss"]],[2145,"Craniosynostosis, Herrmann-Opitz type"],[2148,"Lissencephaly type 1 due to doublecortin gene mutation",["X-linked lissencephaly type 1"]],[2149,"Nodular neuronal heterotopia"],[2150,"Hirschsprung disease-type D brachydactyly syndrome"],[2151,"Hirschsprung disease-ganglioneuroblastoma syndrome"],[2152,"Mowat-Wilson syndrome",["Hirschsprung disease-intellectual disability syndrome"]],[2153,"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome",["Al Gazali-Donnai-Muller syndrome"]],[2155,"Hirschsprung disease-deafness-polydactyly syndrome",["Hirschsprung disease-hearing loss-polydactyly syndrome","Santos-Mateus-Leal syndrome"]],[2156,"OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome",["OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome"]],[2157,"Histidinemia",["HAL deficiency","HIS deficiency","Histidase deficiency","Histidine ammonia-lyase deficiency","Histidinuria","Hyperhistidinemia"]],[2158,"Histidinuria-renal tubular defect syndrome"],[2161,"OBSOLETE: Holoacardius amorphus"],[2162,"Holoprosencephaly",["HPE"]],[2163,"Holoprosencephaly-craniosynostosis syndrome",["Camero-Lituania-Cohen syndrome","Genoa syndrome"]],[2165,"Holoprosencephaly-caudal dysgenesis syndrome"],[2166,"Holoprosencephaly-postaxial polydactyly syndrome",["Pseudo-trisomy 13 syndrome"]],[2167,"Holzgreve syndrome",["Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome","Holzgreve-Wagner-Rehder syndrome"]],[2168,"Homocarnosinosis",["Homocarnosinase deficiency"]],[2169,"Methylcobalamin deficiency type cblE",["Functional methionine synthase deficiency type cblE"]],[2170,"Methylcobalamin deficiency type cblG",["Functional methionine synthase deficiency type cblG"]],[2172,"Microcephaly-glomerulonephritis-marfanoid habitus syndrome"],[2174,"Hunter-Carpenter-McDonald syndrome"],[2176,"Infantile systemic hyalinosis"],[2177,"Hydranencephaly"],[2180,"Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome",["Ferlini-Ragno-Calzolari syndrome","Waaler-Aarskog syndrome"]],[2181,"Hydrocephaly-tall stature-joint laxity syndrome",["Daish-Hardman-Lamont syndrome"]],[2182,"Hydrocephalus with stenosis of the aqueduct of Sylvius",["Bickers-Adams syndrome","HSAS","X-linked HSAS","X-linked acqueductal stenosis","X-linked hydrocephalus","X-linked hydrocephalus with stenosis of aqueduct of Sylvius"]],[2183,"Hydrocephalus-obesity-hypogonadism syndrome",["Sengers-Hamel-Otten syndrome"]],[2184,"Hydrocephaly-low insertion umbilicus syndrome",["Palmer-Pagon syndrome"]],[2185,"Congenital hydrocephalus"],[2186,"Hydrocephalus-blue sclerae-nephropathy syndrome",["Daentl-Townsend-Siegel syndrome"]],[2189,"Hydrolethalus"],[2190,"OBSOLETE: Congenital hydronephrosis"],[2194,"OBSOLETE: Anti-HLA hyperimmunization"],[2195,"Dicarboxylic aminoaciduria",["Glutamate-aspartate transport defect"]],[2196,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement",["FHHNC with severe ocular involvement","Hypercalciuria-bilateral macular coloboma syndrome","Meier-Blumberg-Imahorn syndrome"]],[2197,"Idiopathic hypercalciuria"],[2198,"Palmoplantar keratoderma-esophageal carcinoma syndrome",["Bennion-Patterson syndrome","Howell-Evans syndrome","Keratosis palmoplantaris-esophageal carcinoma syndrome","Palmoplantar hyperkeratosis-esophageal carcinoma syndrome","Tylosis-oesophageal carcinoma syndrome"]],[2199,"Epidermolytic palmoplantar keratoderma",["Diffuse erythrodermic palmoplantar keratoderma, Voerner type","Diffuse erythrodermic palmoplantar keratoderma, Vörner type","EPPK","Epidermolytic palmoplantar keratoderma of Voerner","Epidermolytic palmoplantar keratoderma of Vörner"]],[2200,"Focal palmoplantar and gingival keratoderma",["Focal palmoplantar and gingival hyperkeratosis"]],[2201,"Palmoplantar keratoderma-spastic paralysis syndrome",["Palmoplantar hyperkeratosis-spastic paralysis syndrome","Powell-Venencie-Gordon syndrome"]],[2202,"Palmoplantar keratoderma-deafness syndrome",["PPK-deafness syndrome","Palmoplantar hyperkeratosis-deafness syndrome","Palmoplantar hyperkeratosis-hearing loss syndrome","Palmoplantar keratoderma-hearing loss syndrome"]],[2203,"Hyperlysinemia",["Hyperlysinemia type I","Lysine alpha-ketoglutarate reductase deficiency"]],[2204,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type",["Kozlowski-Tsuruta syndrome"]],[2206,"Ankylosing vertebral hyperostosis with tylosis"],[2207,"Familial primary hyperparathyroidism"],[2209,"Maternal phenylketonuria syndrome",["Hyperphenylalaninemic embryopathy","Maternal PKU syndrome","Maternal hyperphenylalaninemia","Phenylketonuric embryopathy"]],[2211,"Hypertelorism-hypospadias-polysyndactyly syndrome",["Acrofrontofacionasal dysostosis type 2","Acrofrontofacionasal syndrome type 2","Naguib-Richieri-Costa syndrome"]],[2213,"Hypertelorism-microtia-facial clefting syndrome",["Bixler-Christian-Gorlin syndrome","HMC syndrome"]],[2215,"Multiple pterygium-malignant hyperthermia syndrome",["Froster-Iskenius-Waterson-Hall syndrome","Malignant hyperthermia-arthrogryposis-torticollis syndrome"]],[2216,"Maternal hyperthermia-induced birth defects"],[2218,"Cervical hypertrichosis-peripheral neuropathy syndrome"],[2220,"Hypertrichosis cubiti",["Hairy elbows syndrome","MacDermot-Patton-Williams syndrome"]],[2221,"Acquired hypertrichosis lanuginosa"],[2222,"Hypertrichosis lanuginosa congenita",["Hypertrichosis universalis"]],[2224,"Hypertryptophanemia"],[2227,"NON RARE IN EUROPE: Hypodontia",["NON RARE IN EUROPE: Tooth agenesis"]],[2228,"Hypodontia-dysplasia of nails syndrome",["Hypodontia-nail dysgenesis syndrome","Tooth and nail syndrome","Witkop syndrome"]],[2229,"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome",["Cardiogenital syndrome","Malouf syndrome","Najjar syndrome"]],[2230,"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome",["Salti-Salem syndrome"]],[2232,"Primary hypergonadotropic hypogonadism-partial alopecia syndrome",["Al Awadi-Farag-Teebi syndrome"]],[2233,"Hypogonadism-mitral valve prolapse-intellectual disability syndrome",["Cantalamessa-Baldini-Ambrosi syndrome"]],[2234,"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome",["Sohval-Soffer syndrome"]],[2235,"Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome",["Chang-Davidson-Carlson syndrome"]],[2237,"Hypoparathyroidism-sensorineural deafness-renal disease syndrome",["Barakat syndrome","HDR syndrome","Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome"]],[2238,"Familial isolated hypoparathyroidism"],[2239,"Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"],[2241,"Megacystis-microcolon-intestinal hypoperistalsis syndrome",["Berdon syndrome","MMIHS","Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome"]],[2243,"Hypopituitarism-micropenis-cleft lip/palate syndrome"],[2244,"Hypopituitarism-microphthalmia syndrome",["Kaplowitz-Bodurtha syndrome"]],[2245,"OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome"],[2246,"Cerebellar hypoplasia-tapetoretinal degeneration syndrome"],[2248,"Hypoplastic left heart syndrome",["HLHS"]],[2249,"Ulna hypoplasia-intellectual disability syndrome"],[2250,"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome",["Bosma arhinia-microphthalmia syndrome","Bosma-Henkin-Christiansen syndrome"]],[2251,"Thumb deformity-alopecia-pigmentation anomaly syndrome",["Sparse hair-short stature-skin anomalies syndrome"]],[2252,"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome",["Schmitt-Gillenwater-Kelly syndrome"]],[2253,"Foveal hypoplasia-presenile cataract syndrome",["O'Donnell-Pappas syndrome"]],[2254,"Pontocerebellar hypoplasia type 1",["Norman disease","PCH1"]],[2255,"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome",["PACHD","Pancreatic agenesis and congenital heart defects syndrome","Yorifuji-Okuno syndrome"]],[2256,"Fibulo-ulnar hypoplasia-renal anomalies syndrome",["Saito-Kuba-Tsuruta syndrome"]],[2257,"Primary pulmonary hypoplasia"],[2258,"OBSOLETE: Congenital unilateral pulmonary hypoplasia"],[2260,"Oligomeganephronia",["Oligomeganephronic renal hypoplasia"]],[2261,"Hypospadias-intellectual disability, Goldblatt type syndrome",["Goldblatt-Wallis syndrome"]],[2266,"Hypotrichosis-intellectual disability, Lopes type",["Lopes-Marques de Faria syndrome"]],[2267,"OBSOLETE: Ichthyosis-cheek-eyebrow syndrome",["OBSOLETE: Sidransky-Feinstein-Goodman syndrome"]],[2268,"ICF syndrome",["Immunodeficiency-centromeric instability-facial anomalies syndrome","Immunodeficiency-centromeric instability-facial dysmorphism syndrome"]],[2269,"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome",["Jagell-Holmgren-Hofer syndrome"]],[2271,"Congenital ichthyosis-microcephalus-tetraplegia syndrome",["Congenital ichthyosis-microcephalus-quadriplegia syndrome"]],[2272,"Ichthyosis-oral and digital anomalies syndrome",["Clayton Smith-Donnai syndrome"]],[2273,"Ichthyosis follicularis-alopecia-photophobia syndrome",["IFAP syndrome","Ichthyosis follicularis-atrichia-photophobia syndrome"]],[2274,"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome",["Dykes-Marks-Harper syndrome"]],[2278,"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome",["Passwell-Goodman-Siprkowski syndrome"]],[2282,"Dysmorphism-short stature-deafness-difference of sex development syndrome",["Dysmorphism-short stature-deafness-disorder of sex development syndrome","Dysmorphism-short stature-hearing loss-disorder of sex development syndrome","Ieshima-Koeda-Inagaki syndrome"]],[2284,"OBSOLETE: Primary T cell immunodeficiency"],[2285,"Primary basilar invagination",["Bull-Nixon syndrome"]],[2286,"OBSOLETE: Solitary median maxillary central incisor syndrome",["OBSOLETE: SMMCI","OBSOLETE: Single upper central incisor"]],[2287,"Fused mandibular incisors"],[2289,"Neuronal intranuclear inclusion disease"],[2290,"Microvillus inclusion disease",["Congenital microvillous atrophy","Congenital microvillus atrophy","MVID","Microvillous inclusion disease"]],[2291,"Congenital velopharyngeal incompetence"],[2292,"OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome"],[2295,"Familial articular hypermobility syndrome",["Familial joint instability syndrome","Familial joint laxity","Joint instability syndrome"]],[2297,"Insulin-resistance syndrome type A"],[2298,"Insulin-resistance syndrome type B"],[2299,"Aortic arch interruption"],[2300,"Isolated multiple intestinal atresia"],[2301,"Congenital short bowel syndrome"],[2302,"Asbestos intoxication",["Asbestosis"]],[2305,"Isotretinoin syndrome",["Isotretinoin embryopathy","Retinoic acid embryopathy","Retinoids embryopathy"]],[2306,"Isotretinoin-like syndrome",["Kawashima syndrome","Microtia-aortic arch syndrome"]],[2307,"IVIC syndrome",["Oculo-oto-radial syndrome","Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"]],[2308,"Jacobsen syndrome",["11q terminal deletion syndrome","Chromosome 11q deletion syndrome","Del(11)(q23.3)","Del(11)(qter)","Distal deletion 11q","Distal monosomy 11q","Monosomy 11qter","Telomeric deletion 11q"]],[2309,"Pachyonychia congenita",["PC"]],[2310,"Absence deformity of leg-cataract syndrome"],[2311,"Autosomal recessive spondylocostal dysostosis",["Jarcho-Levin syndrome"]],[2312,"Transient familial neonatal hyperbilirubinemia",["Lucey-Driscoll syndrome"]],[2314,"Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency",["AD-HIES due to STAT3 deficiency","Autosomal dominant HIES due to STAT3 deficiency","Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency","Buckley syndrome","Job syndrome"]],[2315,"Johanson-Blizzard syndrome",["JBS"]],[2316,"Johnson neuroectodermal syndrome",["Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome","Alopecia-anosmia-deafness-hypogonadism syndrome","Johnson-McMillin syndrome"]],[2318,"Joubert syndrome with oculorenal defect",["Arima syndrome","CORS","Cerebellooculorenal syndrome","Dekaban-Arima syndrome","JS type B","JS-OR","Joubert syndrome with Senior-Loken syndrome"]],[2319,"Juberg-Hayward syndrome",["Cleft lip/palate-abnormal thumbs-microcephaly syndrome","Orocraniodigital syndrome"]],[2321,"Jung syndrome"],[2322,"Kabuki syndrome",["Kabuki make-up syndrome","Niikawa-Kuroki syndrome"]],[2323,"Sanjad-Sakati syndrome",["HRD syndrome","Hypoparathyroidism-intellectual disability-dysmorphism syndrome","Hypoparathyroidism-short stature-intellectual disability-seizures syndrome","Richardson-Kirk syndrome","SSS"]],[2324,"Osteopenia-intellectual disability-sparse hair syndrome",["Kaler-Garrity-Stern syndrome"]],[2325,"Epidermolysis bullosa simplex with anodontia/hypodontia",["EBS with anodontia/hypodontia","Kallin syndrome"]],[2326,"Kallmann syndrome-heart disease syndrome"],[2328,"Kapur-Toriello syndrome",["Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome"]],[2329,"Karsch-Neugebauer syndrome",["Split hand/split foot-nystagmus syndrome"]],[2330,"Kasabach-Merritt phenomenon",["Haemangioma-thrombocytopenia syndrome","Hemangioma-thrombocytopenia syndrome"]],[2331,"Kawasaki disease",["Mucocutaneous lymph node syndrome"]],[2332,"KBG syndrome",["ANKRD11-related disorder","Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome"]],[2333,"Kenny-Caffey syndrome",["Kenny syndrome"]],[2334,"Autosomal dominant keratitis",["Hereditary keratitis"]],[2335,"NON RARE IN EUROPE: Isolated keratoconus"],[2337,"Diffuse palmoplantar keratoderma, Bothnian type",["Diffuse palmoplantar keratoderma, Bothnia type","NEPPK, Bothnia type","NEPPK, Bothnian type"]],[2338,"Isolated punctate palmoplantar keratoderma",["Isolated punctate PPK","Isolated punctate palmoplantar hyperkeratosis"]],[2339,"Keratosis follicularis-dwarfism-cerebral atrophy syndrome"],[2340,"Keratosis follicularis spinulosa decalvans"],[2342,"Haim-Munk syndrome",["Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome","Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome","Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome"]],[2343,"OBSOLETE: Isolated cloverleaf skull syndrome"],[2345,"Isolated Klippel-Feil syndrome",["Congenital cervical vertebral fusion","Congenital fused cervical segments","Klippel-Feil malformation","Klippel-Feil sequence"]],[2346,"OBSOLETE: Angioosteohypertrophic syndrome",["OBSOLETE: Klippel-Trénaunay-Weber syndrome"]],[2347,"Lethal Kniest-like dysplasia"],[2348,"Familial partial lipodystrophy, Dunnigan type",["Dunnigan syndrome","FPLD2","Familial partial lipodystrophy type 2"]],[2349,"Muscular pseudohypertrophy-hypothyroidism syndrome",["Hoffmann syndrome","Kocher-Debré-Semelaigne syndrome"]],[2351,"Kousseff syndrome",["Sacral meningocele-conotruncal heart defects syndrome"]],[2352,"Kozlowski-Brown-Hardwick syndrome"],[2353,"Schilbach-Rott syndrome",["BRSS","Hypotelorism-cleft palate-hypospadias syndrome"]],[2355,"Kumar-Levick syndrome",["Nail dysplasia-camptodactyly-brachydactyly type B syndrome"]],[2356,"NON RARE IN EUROPE: Arachnoid cyst"],[2357,"Bronchogenic cyst"],[2363,"Lacrimoauriculodentodigital syndrome",["LADD syndrome","LARD syndrome","Lacrimoauriculoradiodental syndrome","Levy-Hollister syndrome"]],[2364,"Glycogen storage disease due to lactate dehydrogenase deficiency",["GSD due to lactate dehydrogenase deficiency","Glycogenosis due to lactate dehydrogenase deficiency","LDH deficiency"]],[2368,"Gastroschisis",["Laparoschisis"]],[2369,"Limb body wall complex",["Body stalk anomaly","LBWC syndrome"]],[2370,"Larsen-like osseous dysplasia-short stature syndrome"],[2371,"Lethal Larsen-like syndrome"],[2372,"Laryngocele"],[2373,"Congenital laryngomalacia"],[2374,"Isolated congenital laryngeal web"],[2375,"Laryngeal abductor paralysis-intellectual disability syndrome",["Plott syndrome"]],[2377,"Laurence-Moon syndrome",["LMS"]],[2378,"Laurin-Sandrow syndrome",["Mirror hands and feets-nasal defects syndrome","Sandrow syndrome"]],[2379,"Early-onset parkinsonism-intellectual disability syndrome",["Laxova-Opitz syndrome","Waisman syndrome"]],[2380,"Legg-Calvé-Perthes disease",["Aseptic necrosis of the capital femoral epiphysis","Osteochondrosis of the capital femoral epiphysis","Perthes disease"]],[2382,"Lennox-Gastaut syndrome"],[2386,"Leukoencephalopathy-palmoplantar keratoderma syndrome"],[2387,"Leukonychia totalis"],[2388,"Choreoacanthocytosis",["ChAc","Chorea-acanthocytosis","Levine-Critchley syndrome"]],[2389,"Lewis-Pashayan syndrome",["Cleft lip/palate-ectrodactyly syndrome"]],[2390,"Lichtenstein syndrome"],[2391,"Congenitally short costocoracoid ligament"],[2394,"Pyruvate dehydrogenase E3 deficiency",["DLD deficiency","Dihydrolipoamide dehydrogenase deficiency","E3-deficient maple syrup urine disease"]],[2396,"Encephalocraniocutaneous lipomatosis",["Haberland syndrome"]],[2398,"Multiple symmetric lipomatosis",["Cephalothoracic lipodystrophy","Familial benign cervical lipomatosis","Launois-Bensaude lipomatosis","Madelung disease"]],[2399,"Nasopalpebral lipoma-coloboma syndrome"],[2400,"Peripheral motor neuropathy-dysautonomia syndrome",["Lisker-Garcia-Ramos syndrome"]],[2404,"Loiasis"],[2405,"Thickened earlobes-conductive deafness syndrome",["Escher-Hirt syndrome","Thickened earlobes-conductive hearing loss syndrome"]],[2406,"Locked-in syndrome",["LIS","Pseudocoma"]],[2407,"Laryngo-onycho-cutaneous syndrome",["LOC syndrome","LOGIC syndrome","Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome","Shabbir syndrome"]],[2408,"Lowe-Kohn-Cohen syndrome",["Deafness-nephritis-ano-rectal malformation syndrome","Hearing loss-nephritis-ano-rectal malformation syndrome"]],[2409,"Lowry-MacLean syndrome"],[2410,"Hypergonadotropic hypogonadism-cataract syndrome",["Lubinsky syndrome"]],[2412,"Dislocation of the hip-dysmorphism syndrome",["Collins-Pope syndrome"]],[2414,"Congenital pulmonary lymphangiectasia",["Pulmonary lymphangiomatosis"]],[2415,"Rare lymphatic malformation",["LM","Lymphangioma"]],[2416,"Congenital primary lymphedema without systemic or visceral involvement"],[2419,"Lymphedema-ptosis syndrome"],[2420,"Primary pulmonary lymphoma"],[2427,"Macrocephaly-short stature-paraplegia syndrome",["Volcke-Soekarman syndrome"]],[2429,"Macrocephaly-spastic paraplegia-dysmorphism syndrome",["Fryns macrocephaly"]],[2430,"Congenital macroglossia"],[2431,"Central bilateral macrogyria"],[2432,"Macrosomia-microphthalmia-cleft palate syndrome",["Teebi-Al Saleh-Hassoon syndrome"]],[2435,"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome",["Westerhof-Beemer-Cormane syndrome"]],[2437,"Czeizel-Losonci syndrome",["Split hand with obstructive uropathy, spina bifida and diaphragmatic defects","Split hand-urinary anomalies-spina bifida syndrome"]],[2438,"Hand-foot-genital syndrome",["HFGS","Hand-foot-uterus syndrome"]],[2439,"Patterson-Stevenson-Fontaine syndrome",["Patterson-Stevenson syndrome","Split foot deformity-mandibulofacial dysostosis syndrome"]],[2440,"Isolated split hand-split foot malformation",["Ectrodactyly","SHFM","Split hand foot malformation"]],[2442,"X-linked lymphoproliferative disease",["Duncan disease","Purtilo syndrome","XLP"]],[2443,"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies",["Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies","OXPHOS disease due to nDNA anomalies","OXPHOS disease due to nuclear DNA anomalies"]],[2444,"Congenital pulmonary airway malformation",["CCAM","CPAM","Congenital cystic adenomatoid malformation of the lung","Congenital cystic adenomatous malformation of the lung","Congenital cystic disease of the lung"]],[2445,"Conotruncal heart malformations"],[2447,"Congenital mitral malformation"],[2451,"Mucocutaneous venous malformations",["Cutaneous and mucosal venous malformation","VMCM"]],[2452,"OBSOLETE: Vascular malposition"],[2453,"Malpuech syndrome",["3MC3 syndrome","Malpuech facial clefting syndrome"]],[2454,"OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome",["OBSOLETE: Stalker-Chitayat syndrome"]],[2456,"Familial supernumerary nipples",["Isolated polythelia"]],[2457,"Mandibuloacral dysplasia",["MAD"]],[2458,"OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome",["OBSOLETE: Opitz-Reynolds-Fitzgerald syndrome"]],[2459,"Mansonelliasis",["Mansonellosis"]],[2460,"Van den Ende-Gupta syndrome",["Marden-Walker-like syndrome","VDEGS"]],[2461,"Marden-Walker syndrome"],[2462,"Shprintzen-Goldberg syndrome",["Marfanoid craniosynostosis syndrome","SGS"]],[2463,"Marfanoid habitus-autosomal recessive intellectual disability syndrome",["Fragoso-Cantú syndrome"]],[2464,"Marfanoid syndrome, De Silva type"],[2466,"MASA syndrome",["Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome"]],[2467,"Systemic mastocytosis"],[2470,"Matthew-Wood syndrome",["Anophthalmia-pulmonary hypoplasia syndrome","PDAC syndrome","Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome","Spear syndrome"]],[2471,"McDonough syndrome"],[2473,"McKusick-Kaufman syndrome",["Hydrometrocolpos-postaxial polydactyly syndrome","Kaufman-Mckusick syndrome"]],[2474,"OBSOLETE: McLain-Dekaban syndrome",["OBSOLETE: Intellectual disability-coloboma-slimness syndrome"]],[2475,"White forelock with malformations"],[2476,"Dysraphism-cleft lip/palate-limb reduction defects syndrome",["Medeira-Dennis-Donnai syndrome"]],[2477,"Isolated megalencephaly"],[2478,"Megalencephalic leukoencephalopathy with subcortical cysts",["MLC","Megalencephalic leukodystrophy","Megalencephaly-cystic leukodystrophy syndrome","Vacuolating megalencephalic leukoencephalopathy with subcortical cysts","Van der Knaap syndrome"]],[2479,"Megalocornea-intellectual disability syndrome",["MMR syndrome","Neuhäuser syndrome"]],[2481,"Neurocutaneous melanocytosis",["NCM","Neurocutaneous melanosis"]],[2482,"Melhem-Fahl syndrome"],[2483,"Melkersson-Rosenthal syndrome"],[2484,"Melnick-Needles syndrome",["Melnick-Needles osteodysplasty"]],[2485,"Melorheostosis"],[2486,"Transverse limb deficiency-hemangioma syndrome"],[2487,"Lower limb malformation-hypospadias syndrome",["Fried-Goldberg-Mundel syndrome"]],[2489,"Upper limb defect-eye and ear abnormalities syndrome"],[2491,"Müllerian duct anomalies-limb anomalies syndrome"],[2492,"FATCO syndrome",["Fibular aplasia-tibial campomelia-oligosyndactyly syndrome","Hecht-Scott syndrome"]],[2494,"Ménétrier disease",["Giant hypertrophic gastritis","Hypoproteinemic hypertrophic gastropathy"]],[2495,"Meningioma"],[2496,"Mesomelia-synostoses syndrome",["8q13 microdeletion syndrome","Del(8)q(13)","Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type","Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type","Monosomy 8q13","Verloes-David syndrome"]],[2497,"Upper limb mesomelic dysplasia, type Fryns",["Fryns-Hofkens-Fabry syndrome"]],[2498,"Syndactyly type 8",["Fusion of metacarpals 4 and 5"]],[2499,"Metachondromatosis"],[2500,"Acrogeria",["Acrogeria, Gottron type","Acrometageria","Gottron syndrome"]],[2501,"Metaphyseal chondrodysplasia, Spahr type"],[2502,"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome",["Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome"]],[2504,"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"],[2505,"Multiple benign circumferential skin creases on limbs",["CCSF","Circumferential skin creases, Kunze type","Congenital circumferential skin folds","Kunze-Riehm syndrome"]],[2506,"Michels syndrome",["3MC1 syndrome","Oculopalatoskeletal syndrome"]],[2507,"OBSOLETE: Mickleson syndrome"],[2508,"Corpus callosum agenesis-abnormal genitalia syndrome",["ACC-abnormal genitalia syndrome","Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome","Proud syndrome","Proud-Levine-Carpenter syndrome"]],[2510,"Micro syndrome",["WARBM","Warburg micro syndrome"]],[2511,"Microbrachycephaly-ptosis-cleft lip syndrome",["Richieri Costa-Guion Almeida-Ramos syndrome"]],[2512,"Autosomal recessive primary microcephaly",["MCPH","Microcephalia vera","Microcephaly vera","True microcephaly"]],[2513,"Microcephaly-albinism-digital anomalies syndrome",["Castro Gago-Pombo-Novo syndrome"]],[2514,"Autosomal dominant primary microcephaly"],[2515,"Microcephaly-cardiomyopathy syndrome",["Winship-Viljoen-Leary syndrome"]],[2516,"Microcephaly-cardiac defect-lung malsegmentation syndrome",["Ellis-Yale-Winter syndrome"]],[2518,"Autosomal recessive chorioretinopathy-microcephaly syndrome",["Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome"]],[2519,"Microcephaly-seizures-intellectual disability-heart disease syndrome"],[2521,"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome"],[2522,"Microcephaly-cervical spine fusion anomalies syndrome"],[2523,"Microcephaly-brain defect-spasticity-hypernatremia syndrome",["Franek-Bocker-Kahlen syndrome"]],[2524,"Pontocerebellar hypoplasia type 2",["PCH2"]],[2526,"Microcephaly-chorioretinopathy-lymphedema syndrome"],[2528,"Microcephaly-microcornea syndrome, Seemanova type",["Seemanova-Lesny syndrome"]],[2533,"Microcephaly-deafness-intellectual disability syndrome",["Kawashima-Tsuji syndrome","Microcephaly-hearing loss-intellectual disability syndrome"]],[2535,"OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome"],[2536,"Microcornea-glaucoma-absent frontal sinuses syndrome"],[2538,"Microgastria-limb reduction defect syndrome"],[2542,"Isolated microphthalmia-anophthalmia-coloboma",["Isolated MAC"]],[2543,"OBSOLETE: Microphthalmia-cataract syndrome",["OBSOLETE: Congenital cataract-microphthalmia syndrome"]],[2547,"Microphthalmia-microtia-fetal akinesia syndrome",["Thomas-Jewett-Raines syndrome"]],[2549,"Oculoauriculovertebral spectrum with radial defects",["Hemifacial microsomia-radial defects syndrome","Moeschler-Clarren syndrome"]],[2551,"Microspherophakia-metaphyseal dysplasia syndrome",["Verloes-Van Maldergem-de Marneffe syndrome"]],[2552,"Microsporidiosis"],[2554,"Ear-patella-short stature syndrome",["Meier-Gorlin syndrome"]],[2556,"Microphthalmia with linear skin defects syndrome",["MCOPS7","MIDAS syndrome","MLS syndrome","Microphthalmia-dermal aplasia-sclerocornea syndrome","Syndromic microphthalmia type 7"]],[2557,"Mietens syndrome",["Intellectual disability, Mietens-Weber type"]],[2558,"Mikati-Najjar-Sahli syndrome",["Microcephaly-hypergonadotropic hypogonadism-short stature syndrome"]],[2560,"Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"],[2561,"Pyramidal molars-abnormal upper lip syndrome",["Ackerman fused molar roots syndrome"]],[2563,"MOMO syndrome",["Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome","Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome"]],[2564,"Tetramelic monodactyly",["Sommer-Hines syndrome"]],[2565,"Mononen-Karnes-Senac syndrome",["Skeletal dysplasia-brachydactyly syndrome"]],[2566,"Chronic Epstein-Barr virus infection syndrome",["CAEBV syndrome","Chronic EBV infection syndrome"]],[2569,"Moore-Federman syndrome",["Dwarfism-stiff joint-ocular abnormalities syndrome"]],[2570,"Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome",["Morse-Rawnsley-Sargent syndrome"]],[2571,"Woods-Black-Norbury syndrome"],[2572,"Spastic ataxia-corneal dystrophy syndrome",["Bedouin spastic ataxia syndrome","Mousa-Al Din-Al Nassar syndrome","Spastic ataxia-ocular anomalies syndrome"]],[2573,"Moyamoya disease",["Idiopathic Moyamoya disease"]],[2574,"Moynahan syndrome",["Alopecia-epilepsy-intellectual disability syndrome, Moynahan type"]],[2575,"Cystic fibrosis-gastritis-megaloblastic anemia syndrome",["Lubani-Al Saleh-Teebi syndrome"]],[2576,"Mulibrey nanism",["MUL","Mulibrey growth disorder","Muscle-liver-brain-eye nanism"]],[2578,"Mayer-Rokitansky-Küster-Hauser syndrome type 2",["Atypical MRKH syndrome","MRKH syndrome type 2","MURCS association","Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"]],[2579,"Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome",["Furukawa-Takagi-Nakao syndrome"]],[2580,"OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome"],[2582,"Myalgia-eosinophilia syndrome associated with tryptophan"],[2583,"Mycetoma",["Madura foot"]],[2584,"Classic mycosis fungoides",["Mycosis fungoides, Alibert-Bazin type"]],[2585,"Ataxia-pancytopenia syndrome",["ATXPC syndrome","Myelocerebellar disorder","SAMD9L-related ataxia-pancytopenia syndrome"]],[2587,"Myeloperoxidase deficiency",["MPO deficiency"]],[2588,"Myhre syndrome",["Facial dysmorphism-intellectual disability-short stature-deafness syndrome","Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome","Myhre-LAPS syndrome","Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome"]],[2589,"Myoclonus-cerebellar ataxia-deafness syndrome",["Myoclonus-cerebellar ataxia-hearing loss syndrome"]],[2590,"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome",["Hereditary myoclonus-progressive distal muscular atrophy syndrome","Jankovic-Rivera syndrome","SMA-PME"]],[2591,"Infantile myofibromatosis"],[2593,"Tubular aggregate myopathy"],[2596,"Myopathy and diabetes mellitus"],[2597,"Mitochondrial myopathy-lactic acidosis-deafness syndrome",["Mitochondrial myopathy-lactic acidosis-hearing loss syndrome"]],[2598,"Mitochondrial myopathy and sideroblastic anemia",["MLASA","Myopathy, lactic acidosis and sideroblastic anemia"]],[2601,"OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome"],[2604,"Familial visceral myopathy",["Familial hollow visceral myopathy","Hereditary hollow visceral myopathy","Megaduodenum and/or megacystis"]],[2608,"N syndrome"],[2609,"Isolated complex I deficiency",["Isolated NADH-CoQ reductase deficiency","Isolated NADH-coenzyme Q reductase deficiency","Isolated NADH-ubiquinone reductase deficiency","Isolated mitochondrial respiratory chain complex I deficiency"]],[2611,"Linear verrucous nevus syndrome",["Linear hamartoma syndrome"]],[2612,"Linear nevus sebaceus syndrome",["Nevus sebaceus of Jadassohn","Nevus sebaceus syndrome","Organoid nevus syndrome","Schimmelpenning syndrome","Solomon syndrome"]],[2613,"Nail-patella-like renal disease",["Salcedo syndrome"]],[2614,"Nail-patella syndrome",["Onychoosteodysplasia","Turner-Kieser syndrome"]],[2615,"Nakajo-Nishimura syndrome",["Amyotrophy-fat tissue anomaly syndrome","Secondary hypertrophic osteoperiostosis with pernio"]],[2616,"3M syndrome",["3-M syndrome","Yakut short stature syndrome"]],[2617,"Microcephalic primordial dwarfism, Montreal type",["Bird-headed dwarfism, Montreal type"]],[2619,"Brachydactylous dwarfism, Mseleni type",["Mseleni joint disease"]],[2621,"OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome",["OBSOLETE: Christian-Rosenberg syndrome"]],[2623,"Geleophysic dysplasia",["Geleophysic dwarfism"]],[2626,"OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome",["OBSOLETE: Blethen-Wenick-Hawkins syndrome"]],[2631,"Mesomelic dwarfism-cleft palate-camptodactyly syndrome",["Mesomelic dysplasia, Kozlowski-Reardon type","Mesomelic dysplasia, Reardon type","Reardon-Hall-Slaney syndrome"]],[2632,"Langer mesomelic dysplasia",["Mesomelic dwarfism, Langer type"]],[2633,"Mesomelic dysplasia, Nievergelt type",["Mesomelic dwarfism, Nievergelt type","Nievergelt syndrome"]],[2634,"Mesomelic dwarfism, Reinhardt-Pfeiffer type",["Reinhardt-Pfeiffer mesomelic dysplasia","Reinhardt-Pfeiffer syndrome"]],[2635,"Metatropic dysplasia",["Metatropic dwarfism"]],[2636,"Microcephalic osteodysplastic primordial dwarfism types I and III",["MOPD types I and III","Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type","Primordial microcephalic dwarfism, Crachami type","Taybi-Linder syndrome"]],[2637,"Microcephalic osteodysplastic primordial dwarfism type II",["MOPD type II","Majewski osteodysplastic primordial dwarfism type II"]],[2639,"Fibular aplasia-complex brachydactyly syndrome",["Du Pan syndrome"]],[2640,"Lethal short-limb dwarfism, McAlister-Crane type",["McAlister-Crane syndrome"]],[2641,"OBSOLETE: Micromelic dwarfism, Fryns type"],[2643,"Microcephalic primordial dwarfism, Toriello type"],[2645,"Osteoglosphonic dysplasia",["Osteoglophonic dwarfism"]],[2646,"Parastremmatic dysplasia",["Parastremmatic dwarfism"]],[2649,"Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome",["Richieri Costa-Guion Almeida syndrome"]],[2650,"OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome",["OBSOLETE: Mollica-Pavone-Antener syndrome"]],[2653,"OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome",["OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome","OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome","OBSOLETE: Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome"]],[2654,"Syndesmodysplasic dwarfism",["Laplane-Fontaine-Lagardere syndrome"]],[2655,"Thanatophoric dysplasia",["TD"]],[2658,"Lenz-Majewski hyperostotic dysplasia",["Lenz-Majewski hyperostotic dwarfism","Lenz-Majewski syndrome"]],[2661,"Dwarfism-tall vertebrae syndrome"],[2662,"Keipert syndrome",["Nasodigitoacoustic syndrome"]],[2663,"Nathalie syndrome",["Deafness-cataract-skeletal anomalies syndrome","Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome"]],[2665,"Congenital mesoblastic nephroma"],[2666,"Adult familial nephronophthisis-spastic quadriparesia syndrome"],[2668,"Nephropathy-deafness-hyperparathyroidism syndrome",["Edwards-Patton-Dilly syndrome","Nephropathy-hearing loss-hyperparathyroidism syndrome"]],[2669,"Nephrosis-deafness-urinary tract-digital malformations syndrome",["Braun-Bayer syndrome","Nephrosis-hearing loss-urinary tract-digital malformations syndrome"]],[2670,"Pierson syndrome",["Microcoria-congenital nephrosis syndrome"]],[2671,"Neu-Laxova syndrome"],[2672,"Neuhauser-Eichner-Opitz syndrome",["Recurrent encephalophathy of childhood"]],[2673,"Neurofaciodigitorenal syndrome",["Freire Maia-Pinheiro-Opitz syndrome"]],[2674,"Cyprus facial-neuromusculoskeletal syndrome"],[2675,"OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome",["OBSOLETE: Maccario-Mena syndrome"]],[2676,"Neuroectodermal-endocrine syndrome",["Oerter-Friedman-Anderson syndrome"]],[2677,"OBSOLETE: Neuroepithelioma"],[2678,"Familial isolated café-au-lait macules",["CALs syndrome isolated","Familial CALMs isolated","Familial isolated CALSs","Familial isolated café-au-lait spots","Multiple isolated café-au-lait spots","Multiple isolated café-au-lait syndrome"]],[2679,"OBSOLETE: Infantile axonal neuropathy"],[2680,"Hypomyelination neuropathy-arthrogryposis syndrome"],[2686,"Cyclic neutropenia"],[2687,"Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome"],[2688,"Adult idiopathic neutropenia",["Adult chronic idiopathic neutropenia"]],[2689,"Intermittent neutropenia"],[2690,"Neutropenia-monocytopenia-deafness syndrome",["Neutropenia-monocytopenia-hearing loss syndrome"]],[2691,"Nevo syndrome",["Cerebral gigantism, Nevo type"]],[2694,"OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome"],[2695,"Bifid nose"],[2697,"Arthrogryposis-renal dysfunction-cholestasis syndrome",["ARC syndrome"]],[2698,"Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome",["Bart-Pumphrey syndrome","Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome","Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome","Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome"]],[2699,"Median nodule of the upper lip"],[2700,"Noma",["Cancrum oris"]],[2701,"Noonan syndrome-like disorder with loose anagen hair",["Mazzanti syndrome","NS/LAH"]],[2703,"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome",["Nova syndrome"]],[2704,"Urofacial syndrome",["Hydronephrosis-inverted smile syndrome","Inverted smile-neurogenic bladder syndrome","Ochoa facial syndrome","Ochoa syndrome","Partial facial palsy with urinary abnormalities"]],[2705,"OBSOLETE: Oculocerebral dysplasia",["OBSOLETE: Behrens-Baumann-Vogel syndrome","OBSOLETE: Microphthalmia-optic nerve aplasia syndrome"]],[2706,"OBSOLETE: Oculocerebroacral syndrome"],[2707,"Oculocerebrofacial syndrome, Kaufman type"],[2708,"OBSOLETE: Oculocerebroosseous syndrome",["OBSOLETE: Plum syndrome"]],[2709,"Oculodental syndrome, Rutherfurd type",["Gingival hypertrophy-corneal dystrophy","Rutherfurd syndrome"]],[2710,"Oculodentodigital dysplasia",["Meyer-Schwickerath syndrome","Meyer-Schwickerath-Weyers syndrome","ODDD syndrome","ODOD syndrome","Oculo-dento-digital dysplasia","Oculodentodigital syndrome","Oculodentodigitalis dysplasia","Oculodentoosseous dysplasia","Osseous-oculo-dental dysplasia"]],[2712,"Oculofaciocardiodental syndrome",["Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome","OFCD syndrome"]],[2713,"Oculoosteocutaneous syndrome"],[2714,"Oculo-palato-cerebral syndrome",["Oculo-palato-cerebral dwarfism"]],[2715,"Severe oculo-renal-cerebellar syndrome",["Hunter-Jurenka-Thompson syndrome","ORC syndrome","Oculorenocerebellar syndrome"]],[2716,"OBSOLETE: Oculo-skeletal-renal syndrome"],[2717,"Oculotrichoanal syndrome",["MOTA syndrome","Manitoba oculotrichoanal syndrome","Marles syndrome","Marles-Greenberg-Persaud syndrome"]],[2718,"Oculotrichodysplasia",["Cecato de Lima-Pinheiro syndrome"]],[2719,"Oculocerebral hypopigmentation syndrome, Cross type",["Cross syndrome"]],[2720,"Oculocerebral hypopigmentation syndrome, Preus type"],[2721,"Odonto-onycho-dermal dysplasia",["OODD"]],[2722,"Odonto-onycho dysplasia-alopecia syndrome"],[2723,"Odontotrichomelic syndrome",["Freire-Maia syndrome"]],[2724,"Odontomatosis-aortae esophagus stenosis syndrome",["Bader syndrome"]],[2725,"Eye defects-arachnodactyly-cardiopathy syndrome",["Al Gazali-Al Talabani syndrome","Al Gazali-Lytle syndrome"]],[2728,"Blepharophimosis-intellectual disability syndrome, Ohdo type",["BMRS, Ohdo type","Blepharophimosis syndrome, Ohdo type","Ohdo syndrome","Ohdo-Madokoro-Sonoda syndrome"]],[2729,"Okamoto syndrome"],[2730,"Postaxial tetramelic oligodactyly"],[2731,"Taurodontia-absent teeth-sparse hair syndrome"],[2732,"Olivopontocerebellar atrophy-deafness syndrome",["Olivopontocerebellar atrophy-hearing loss syndrome"]],[2733,"Omodysplasia"],[2736,"Lethal omphalocele-cleft palate syndrome",["Czeizel syndrome"]],[2737,"Onchocerciasis"],[2739,"Onycho-tricho-dysplasia-neutropenia syndrome",["Itin syndrome","ONMR syndrome","Trichothiodystrophy type G"]],[2741,"Ophthalmomandibulomelic dysplasia",["OMM syndrome","Pillay syndrome"]],[2742,"OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome"],[2743,"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome",["Levic-Stefanovic-Nikolic syndrome"]],[2744,"Horizontal gaze palsy with progressive scoliosis",["HGPPS","Progressive external ophthalmoplegia and scoliosis"]],[2745,"Opitz GBBB syndrome",["Hypertelorism-hypospadias syndrome","Hypertelorism-oesophageal abnormality-hypospadias syndrome","Hypospadias-dysphagia syndrome","Opitz BBB/G syndrome","Opitz BBBG syndrome","Opitz G/BBB syndrome","Opitz-Frias syndrome"]],[2746,"Opsismodysplasia"],[2749,"Oromandibular-limb hypogenesis syndrome",["Oroacral syndrome"]],[2750,"Orofaciodigital syndrome type 1",["OFD1","OFDI","OFDSI","Oral-facial-digital syndrome type 1","Papillon-Léage-Psaume syndrome"]],[2751,"Orofaciodigital syndrome type 2",["Oral-facial-digital syndrome type 2","Mohr syndrome","OFD2"]],[2752,"Orofaciodigital syndrome type 3",["OFD3","Oral-facial-digital syndrome type 3","Sugarman syndrome"]],[2753,"Orofaciodigital syndrome type 4",["Baraitser-Burn syndrome","Mohr-Majewski syndrome","OFD4","Oral-facial-digital syndrome type 4"]],[2754,"Orofaciodigital syndrome type 6",["Joubert syndrome with oral-facial-digital syndrome","Joubert syndrome with orofaciodigital defect","OFD6","Oral-facial-digital syndrome type 6","Polydactyly-cleft lip/palate-psychomotor retardation syndrome","Váradi syndrome","Váradi-Papp syndrome"]],[2755,"Orofaciodigital syndrome type 8",["OFD8","Oral-facial-digital syndrome type 8","Oral-facial-digital syndrome, Edwards type","Orofaciodigital syndrome, Edwards type"]],[2756,"OBSOLETE: Orofaciodigital syndrome type 10",["OBSOLETE: Figuera syndrome","OBSOLETE: OFD10","OBSOLETE: Oral-facial-digital syndrome type 10","OBSOLETE: Orofaciodigital syndrome with fibular aplasia"]],[2759,"Imperforate oropharynx-costovertebral anomalies syndrome",["Seghers syndrome"]],[2760,"OSLAM syndrome",["Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome"]],[2762,"Progressive osseous heteroplasia",["Familial ectopic ossification","POH"]],[2763,"Osteocraniostenosis",["Gracile bone dysplasia","Osteocraniosplenic syndrome"]],[2764,"Osteochondritis dissecans",["König disease"]],[2765,"OBSOLETE: Hypertrichotic osteochondrodysplasia"],[2767,"Carpotarsal osteochondromatosis",["Maroteaux-Le Merrer-Bensahel syndrome"]],[2768,"Blount disease",["Infantile tibia vara","Osteochondrosis deformans tibiae","Tibia vara Blount"]],[2769,"Familial osteodysplasia, Anderson type"],[2770,"Nasu-Hakola disease",["NHD","PLO-SL","PLOSL","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"]],[2771,"Bruck syndrome",["Osteogenesis imperfecta-congenital joint contractures syndrome"]],[2772,"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome"],[2773,"Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome",["Al Gazali-Nair syndrome"]],[2774,"Multicentric carpo-tarsal osteolysis with or without nephropathy",["Idiopathic multicentric osteolysis with or without nephropathy"]],[2775,"Autosomal recessive carpotarsal osteolysis",["Hereditary multicentric osteolysis"]],[2776,"Autosomal recessive distal osteolysis syndrome",["Distal osteolysis-short stature-intellectual disability syndrome","Petit-Fryns syndrome"]],[2777,"Osteomesopyknosis",["Axial osteosclerosis","Osteomesopycnosis"]],[2778,"OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis",["OBSOLETE: Juvenile CRMO"]],[2779,"Osteopathia striata-pigmentary dermopathy-white forelock syndrome",["Whyte-Murphy syndrome"]],[2780,"Osteopathia striata-cranial sclerosis syndrome",["Hyperostosis generalisata with striations","Robinow-Unger syndrome"]],[2781,"Osteopetrosis and related disorders"],[2783,"Autosomal dominant osteopetrosis type 1"],[2785,"Osteopetrosis with renal tubular acidosis",["Carbonic anhydrase 2 deficiency","Guibaud-Vainsel syndrome","Marble brain disease","Mixed RTA","Mixed renal tubular acidosis","Renal tubular acidosis type 3"]],[2786,"Osteoporosis-oculocutaneous hypopigmentation syndrome",["Hernández-Fragoso syndrome","OOCHS"]],[2787,"OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome",["OBSOLETE: Heide syndrome"]],[2788,"Osteoporosis-pseudoglioma syndrome",["OPPG"]],[2789,"Lateral meningocele syndrome",["Lehman syndrome"]],[2790,"Endosteal hyperostosis, Worth type",["Autosomal dominant osteosclerosis, Worth type","Worth syndrome"]],[2791,"Otodental syndrome",["Globodontia","Otodental dysplasia"]],[2792,"Otofaciocervical syndrome",["Fara-Chlupackova syndrome","OFC syndrome"]],[2793,"Otoonychoperoneal syndrome"],[2794,"NON RARE IN EUROPE: Familial otosclerosis"],[2795,"Fowler urethral sphincter dysfunction syndrome",["Fowler syndrome","Fowler-Christmas-Chapple syndrome"]],[2796,"Pachydermoperiostosis",["PDP","Touraine-Solente-Gole syndrome"]],[2798,"Pachygyria-intellectual disability-epilepsy syndrome",["Kuzniecky syndrome"]],[2800,"Extramammary Paget disease"],[2801,"Juvenile Paget disease",["Familial osteoectasia","Hereditary hyperphosphatasia","Hyperostosis corticalis deformans juvenilis","JPG"]],[2802,"X-linked sideroblastic anemia and spinocerebellar ataxia",["Pagon-Bird-Detter syndrome","X-linked sideroblastic anemia with ataxia","XLSA-A"]],[2804,"W syndrome",["Pallister-W syndrome"]],[2805,"Partial pancreatic agenesis",["Congenital pancreatic agenesis","Partial agenesis of the pancreas"]],[2806,"Subacute sclerosing leukoencephalitis",["Dawson encephalitis","SSPE","Subacute inclusion body encephalitis","Subacute sclerosing panencephalitis","Van Bogaert disease","Van Bogaert encephalitis"]],[2807,"Papilloma of choroid plexus",["CPP","Choroid plexus papilloma"]],[2808,"Laryngeal abductor paralysis",["Familial vocal cord dysfunction","Gerhardt syndrome"]],[2809,"Familial recurrent peripheral facial palsy",["Familial recurrent Bell palsy"]],[2810,"NON RARE IN EUROPE: Idiopathic facial palsy",["NON RARE IN EUROPE: Bell palsy"]],[2812,"Parana hard skin syndrome",["Hard skin syndrome, Parana type"]],[2815,"Spastic paraparesis-deafness syndrome",["Spastic paraparesis-hearing loss syndrome","Wells-Jankovic syndrome"]],[2816,"Spastic paraplegia-epilepsy-intellectual disability syndrome",["SPEMR"]],[2818,"Spastic paraplegia-glaucoma-intellectual disability syndrome"],[2819,"Spastic paraplegia-facial-cutaneous lesions syndrome",["Bahemuka-Brown syndrome"]],[2820,"Spastic paraplegia-nephritis-deafness syndrome",["Fitzsimmons-Walson-Mellor syndrome","Spastic paraplegia-nephritis-hearing loss syndrome"]],[2821,"Spastic paraplegia-neuropathy-poikiloderma syndrome",["Antinolo-Nieto-Borrego syndrome"]],[2822,"Autosomal recessive spastic paraplegia type 11",["Nakamura-Osame syndrome","SPG11","Spastic paraplegia-intellectual disability-thin corpus callosum syndrome"]],[2823,"OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome",["OBSOLETE: Fitzsimmons-Guilbert syndrome"]],[2824,"Paraplegia-intellectual disability-hyperkeratosis syndrome",["Fitzsimmons-McLachlan-Gilbert syndrome"]],[2825,"PARC syndrome",["Poikiloderma-alopecia-retrognathism-cleft palate syndrome"]],[2826,"Spastic paraplegia-precocious puberty syndrome"],[2828,"Young-onset Parkinson disease",["Early-onset Parkinson disease","YOPD"]],[2829,"Partington-Anderson syndrome"],[2831,"Rhizomelic dysplasia, Patterson-Lowry type"],[2832,"Short tarsus-absence of lower eyelashes syndrome",["Lopes-Gorlin syndrome"]],[2833,"Stiff skin syndrome"],[2834,"Wrinkly skin syndrome",["WSS","Wrinkled skin syndrome"]],[2835,"Pectus excavatum-macrocephaly-dysplastic nails syndrome",["Zori-Stalker-Williams syndrome"]],[2836,"PEHO syndrome",["Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy"]],[2837,"Pellagra-like skin rash-neurological manifestations syndrome"],[2838,"Renal caliceal diverticuli-deafness syndrome",["Renal caliceal diverticuli-hearing loss syndrome"]],[2839,"Pelvis-shoulder dysplasia",["Kosenow syndrome","Scapuloiliac dysostosis"]],[2840,"Pelvic dysplasia-arthrogryposis of lower limbs syndrome",["Ray-Peterson-Scott syndrome"]],[2841,"Hailey-Hailey disease",["Benign chronic familial pemphigus"]],[2842,"Penoscrotal transposition"],[2843,"Pentosuria",["Essential pentosuria","Xylitol dehydrogenase deficiency"]],[2846,"Congenital pericardium anomaly"],[2847,"Pericardial and diaphragmatic defect"],[2848,"Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome",["Arthropathy-camptodactyly syndrome","CACP syndrome","Pericarditis-arthropathy-camptodactyly syndrome"]],[2849,"Perlman syndrome",["Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome"]],[2850,"Alopecia-intellectual disability syndrome",["Perniola-Krajewska-Carnevale syndrome"]],[2853,"Serpentine fibula-polycystic kidneys syndrome",["Exner syndrome"]],[2854,"Fuhrmann syndrome",["Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome","Fuhrmann-Rieger-de Sousa syndrome"]],[2855,"Perrault syndrome",["XX gonadal dysgenesis-deafness syndrome","XX gonadal dysgenesis-hearing loss syndrome"]],[2856,"Persistent Müllerian duct syndrome",["PMDS","Persistent Müllerian derivatives"]],[2860,"OBSOLETE: Preeyasombat-Varavithya syndrome",["OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome"]],[2861,"OBSOLETE: Short stature-microcephaly-heart defect syndrome",["OBSOLETE: D'Ercole syndrome"]],[2863,"Short stature-wormian bones-dextrocardia syndrome",["Stratton-Parker syndrome"]],[2864,"OBSOLETE: Short stature-prognathism-short femoral necks syndrome"],[2865,"Short stature-webbed neck-heart disease syndrome",["Al Gazali-Aziz-Salem syndrome"]],[2866,"Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome",["Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome","Thong-Douglas-Ferrante syndrome"]],[2867,"Short stature, Brussels type",["Mievis-Verellen-Dumoulin syndrome"]],[2868,"Short stature-valvular heart disease-characteristic facies syndrome"],[2869,"Peutz-Jeghers syndrome",["Hamartomatous intestinal polyposis","PJS"]],[2870,"NON RARE IN EUROPE: Peyronie syndrome",["NON RARE IN EUROPE: Induratio penis plastica","NON RARE IN EUROPE: Plastic induration of penis"]],[2871,"Pfeiffer-Palm-Teller syndrome"],[2872,"Cardiocranial syndrome, Pfeiffer type",["Craniosynostosis-congenital heart disease-intellectual disability syndrome","Pfeiffer-Singer-Zschiesche syndrome"]],[2874,"Phakomatosis pigmentokeratotica"],[2875,"Phakomatosis pigmentovascularis"],[2876,"PHAVER syndrome",["Powell-Chandra-Saal syndrome"]],[2878,"OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome",["OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome","OBSOLETE: Stoll-Lévy-Francfort syndrome"]],[2879,"Phocomelia, Schinzel type",["Al Awadi-Raas-Rothschild syndrome","Aplasia/hypoplasia of limbs and pelvis","Congenital absence of ulna and fibula","Severe limb deficit"]],[2880,"Phosphoenolpyruvate carboxykinase deficiency",["PEPCK deficiency"]],[2881,"Cutaneous photosensitivity-lethal colitis syndrome"],[2882,"Sitosterolemia",["Sisterolemia","Phytosterolemia"]],[2884,"Piebaldism"],[2885,"Piebald trait-neurologic defects syndrome",["Telfer-Sugar-Jaeger syndrome"]],[2886,"TARP syndrome",["Pierre Robin sequence-congenital heart defect-talipes syndrome","Pierre Robin syndrome-congenital heart defect-talipes syndrome","Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome"]],[2888,"Pierre Robin syndrome-faciodigital anomaly syndrome",["Chitayat-Meunier-Hodgkinson syndrome","Pierre Robin sequence-faciodigital anomaly syndrome"]],[2889,"Pili torti",["Twisted hair"]],[2890,"Pili torti-onychodysplasia syndrome"],[2891,"Pili torti-developmental delay-neurological abnormalities syndrome"],[2892,"Pilodental dysplasia-refractive errors syndrome",["Euhidrotic ectodermal dysplasia","Kopysc-Barczyk-Krol syndrome"]],[2894,"OBSOLETE: Pilotto syndrome"],[2895,"Pinsky-Di George-Harley syndrome",["Microphthalmia-intellectual disability syndrome"]],[2896,"Pitt-Hopkins syndrome"],[2897,"Pityriasis rubra pilaris"],[2898,"X-linked intellectual disability-plagiocephaly syndrome",["Hyde Forster-McCarthy-Berry syndrome"]],[2899,"Brachyolmia-amelogenesis imperfecta syndrome",["Platyspondyly-amelogenesis imperfecta syndrome","Verloes-Bourguignon syndrome"]],[2900,"Leri pleonosteosis"],[2901,"Neuralgic amyotrophy",["Acute brachial plexus neuritis","Brachial plexus neuritis","Immune brachial plexus neuropathy","Mononeuritis multiplex with brachial predilection","Neuralgic shoulder amyotrophy"]],[2902,"Idiopathic chronic eosinophilic pneumonia",["Chronic eosinophilic pneumonia"]],[2903,"Familial spontaneous pneumothorax"],[2905,"POEMS syndrome",["Crow-Fukase syndrome","Osteosclerotic myeloma","PEP syndrome","Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome","Takatsuki syndrome"]],[2907,"Hereditary acrokeratotic poikiloderma",["Weary syndrome"]],[2908,"Kindler epidermolysis bullosa",["Congenital bullous poikiloderma","Kindler syndrome","Poikiloderma of Kindler"]],[2909,"Rothmund-Thomson syndrome",["Poikiloderma of Rothmund-Thomson","RTS"]],[2911,"Poland syndrome",["Poland anomaly","Poland sequence"]],[2912,"Poliomyelitis"],[2913,"Non-syndromic polydactyly"],[2916,"Postaxial polydactyly-dental and vertebral anomalies syndrome"],[2917,"Polydactyly-myopia syndrome",["Czeizel-Brooser syndrome"]],[2919,"Orofaciodigital syndrome type 5",["OFD5","Oral-facial-digital syndrome type 5","Orofaciodigital syndrome, Thurston type","Polydactyly postaxial with median cleft of upper lip","Thurston syndrome"]],[2920,"Oliver syndrome",["Postaxial polydactyly-intellectual disability syndrome"]],[2921,"Preaxial polydactyly-colobomata-intellectual disability syndrome",["Pfeiffer-Mayer syndrome"]],[2924,"Isolated polycystic liver disease",["ADPCLD","Autosomal dominant polycystic liver disease","PCLD"]],[2925,"OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome"],[2926,"Digital extensor muscle aplasia-polyneuropathy",["Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy","Hamanishi-Ueba-Tsuji syndrome","Polyneuropathy-hand defect syndrome"]],[2928,"Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome",["Lundberg syndrome"]],[2929,"Juvenile polyposis syndrome",["JIP","JPS","Juvenile gastrointestinal polyposis","Juvenile intestinal polyposis"]],[2930,"Cronkhite-Canada syndrome",["Gastrointestinal polyposis-ectodermal changes syndrome","Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome"]],[2932,"Chronic inflammatory demyelinating polyneuropathy",["CIDP","Chronic inflammatory demyelinating polyradiculoneuropathy"]],[2934,"Polysyndactyly-cardiac malformation syndrome",["Bonneau syndrome"]],[2935,"Crossed polysyndactyly"],[2940,"Porencephaly"],[2941,"Porencephaly-cerebellar hypoplasia-internal malformations syndrome",["Bonnemann-Meinecke syndrome"]],[2942,"Postpoliomyelitis syndrome",["Postpolio syndrome","Postpoliomyelitic syndrome"]],[2946,"Brachydactyly-long thumb syndrome",["Brachydactyly, long thumb type"]],[2947,"Triphalangeal thumbs-brachyectrodactyly syndrome",["Carnevale-Hernández-del Castillo-Torres syndrome"]],[2950,"Triphalangeal thumb-polysyndactyly syndrome",["TPT-PS syndrome"]],[2951,"Absent thumb-short stature-immunodeficiency syndrome"],[2952,"Adducted thumbs-arthrogryposis syndrome, Christian type"],[2953,"Musculocontractural Ehlers-Danlos syndrome",["Adducted thumb-clubfoot syndrome","Distal arthrogryposis with peculiar facies and hydronephrosis","Dündar syndrome","Ehlers-Danlos syndrome, Kosho type","Musculocontractural EDS","mcEDS"]],[2956,"Acrodysplasia scoliosis",["Brachydactyly-scoliosis-carpal fusion syndrome","Prata-Liberal-Goncalves syndrome"]],[2957,"Guttmacher syndrome",["Preaxial deficiency-postaxial polydactyly-hypospadias syndrome"]],[2958,"X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome",["Prieto-Badia-Mulas syndrome"]],[2959,"Progeria-short stature-pigmented nevi syndrome",["Mulvihill-Smith syndrome"]],[2962,"De Barsy syndrome",["Cutis laxa-corneal clouding-intellectual disability syndrome","Progeroid syndrome, De Barsy type"]],[2963,"Progeroid syndrome, Petty type",["Petty syndrome","Petty-Laxova-Wiedemann syndrome"]],[2964,"Autosomal dominant prognathism"],[2965,"Prolactinoma",["Lactotroph adenoma","PRL-secreting pituitary adenoma","PRLoma","Pituitary lactotrophic adenoma","Prolactin-secreting pituitary adenoma"]],[2966,"Properdin deficiency"],[2967,"Haptocorrin deficiency",["TCI deficiency","Transcobalamin I deficiency"]],[2968,"Leukocyte adhesion deficiency",["LAD"]],[2969,"Proteus-like syndrome"],[2970,"Prune belly syndrome",["Abdominal muscle deficiency syndrome","Eagle-Barret syndrome","Obrinsky syndrome","Triad syndrome"]],[2971,"Peroxisomal acyl-CoA oxidase deficiency",["Pseudo-NALD","Pseudo-neonatal adrenoleukodystrophy","Pseudoadrenoleukodystrophy"]],[2972,"Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome",["Stoelinga-de Koomen-Davis syndrome"]],[2973,"46,XX difference of sex development-anorectal anomalies syndrome",["46,XX disorder of sex development-anorectal anomalies syndrome"]],[2975,"46,XX difference of sex development-skeletal anomalies syndrome",["46,XX disorder of sex development-skeletal anomalies syndrome"]],[2976,"Pseudoleprechaunism syndrome, Patterson type",["Patterson pseudoleprechaunism syndrome","Patterson syndrome"]],[2978,"Chronic intestinal pseudoobstruction syndrome",["CIPO","CIPO syndrome","CIPS","CIP syndrome"]],[2980,"Acrootoocular syndrome",["Pseudopapilledema-blepharophimosis-hand anomalies syndrome"]],[2981,"Pseudo-Zellweger syndrome",["Thiolase deficiency"]],[2982,"46,XX difference of sex development",["46,XX DSD","46,XX disorder of sex development"]],[2983,"Difference of sex development-intellectual disability syndrome",["Disorder of sex development-intellectual disability syndrome","Verloes-Gillerot-Fryns syndrome"]],[2985,"Pseudoprogeria syndrome",["Absent eyebrows and eyelashes-intellectual disability syndrome","Hal-Berg-Rudolph syndrome"]],[2987,"Antecubital pterygium syndrome"],[2988,"Pterygium colli-intellectual disability-digital anomalies syndrome",["Khalifa-Graham syndrome"]],[2989,"Familial pterygium of the conjunctiva"],[2990,"Autosomal recessive multiple pterygium syndrome",["Autosomal recessive non-lethal multiple pterygium syndrome","EVMPS","Escobar syndrome","Escobar variant multiple pterygium syndrome"]],[2994,"Short stature-craniofacial anomalies-genital hypoplasia syndrome",["Haspeslagh-Fryns-Muelenaere syndrome"]],[2995,"Baraitser-Winter cerebrofrontofacial syndrome"],[2997,"Ptosis-vocal cord paralysis syndrome",["Tucker syndrome"]],[2998,"Carnevale syndrome",["3MC2 syndrome","Carnevale-Krajewska-Fischetto syndrome","Mingarelli syndrome","OSA syndrome","Oculo-skeletal-abdominal syndrome","Ptosis-strabismus-rectus abdominis diastasis syndrome"]],[2999,"Ptosis-strabismus-ectopic pupils syndrome",["McPherson-Hall syndrome"]],[3000,"Familial peripheral male-limited precocious puberty",["FMPP","Familial gonadotropin-independent male-limited sexual precocity","Male-limited precocious puberty","Testotoxicosis"]],[3002,"Immune thrombocytopenia",["ITP","Immune thrombocytopenic purpura"]],[3003,"Pyknoachondrogenesis",["Camera syndrome"]],[3004,"Mirror polydactyly-vertebral segmentation-limbs defects syndrome"],[3005,"Pyle disease",["Metaphyseal dysplasia, Pyle type","SFRP4-related Pyle disease"]],[3006,"Pyridoxine-dependent-developmental and epileptic encephalopathy",["Antiquitin deficiency","PD-DEE","Vitamin B6-dependent seizures"]],[3008,"Pyruvate carboxylase deficiency",["Ataxia with lactic acidosis type 2","Ataxia with lactic acidosis type II","Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency","Leigh syndrome due to PC deficiency","Leigh syndrome due to pyruvate carboxylase deficiency"]],[3010,"Qazi-Markouizos syndrome",["Dysharmonic skeletal maturation-muscular fiber disproportion syndrome"]],[3011,"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome",["Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome"]],[3013,"Radiculomegaly of canine teeth- congenital cataract",["Marashi-Gorlin syndrome"]],[3015,"Radio-renal syndrome"],[3016,"Absent radius-anogenital anomalies syndrome"],[3018,"Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome",["Rambaud-Gallian syndrome","Rambaud-Gallian-Touchard syndrome"]],[3019,"Ramon syndrome",["Cherubism-gingival fibromatosis-intellectual disability syndrome"]],[3020,"Ramsay Hunt syndrome",["Facial nerve palsy due to VZV","Facial nerve palsy due to herpes zoster infection","Facial nerve paralysis due to VZV"]],[3021,"RAPADILINO syndrome"],[3022,"Rapp-Hodgkin syndrome",["Ectodermal dysplasia syndrome, Rapp-Hodgkin type","Ectodermal dysplasia, Rapp-Hodgkin type","Hypohidrotic ectodermal dysplasia- cleft lip/palate syndrome","RHS"]],[3023,"External auditory canal atresia-vertical talus-hypertelorism syndrome",["Rasmussen-Johnsen-Thomsen syndrome"]],[3026,"Radial ray hypoplasia-choanal atresia syndrome",["Goldblatt-Viljoen syndrome"]],[3027,"Caudal regression syndrome",["Caudal dysgenesis syndrome","Caudal dysplasia","Caudal regression sequence"]],[3029,"NON RARE IN EUROPE: Horseshoe kidney"],[3032,"NPHP3-related Meckel-like syndrome",["Goldston syndrome","Meckel syndrome type 7","Meckel-like syndrome type 1","Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome"]],[3033,"Renal tubular dysgenesis",["Primitive renal tubule syndrome","Renotubular dysgenesis"]],[3034,"Delayed membranous cranial ossification",["Gonzales-del Angel syndrome"]],[3035,"Growth delay-hydrocephaly-lung hypoplasia syndrome",["Game-Friedman-Paradice syndrome"]],[3038,"Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome",["Mehes syndrome"]],[3041,"Intellectual disability-balding-patella luxation-acromicria syndrome",["Scholte-Begeer-van Essen syndrome"]],[3042,"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome",["Primrose syndrome"]],[3043,"OBSOLETE: Intellectual disability-unusual facies syndrome",["OBSOLETE: Morillo Cucci-Passarge syndrome"]],[3044,"Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"],[3046,"OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type",["OBSOLETE: Davis-Lafer syndrome"]],[3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type",["Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome","SBBYS variant of Ohdo syndrome","SBBYSS","Say-Barber-Biesecker-Young-Simpson syndrome"]],[3050,"OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome",["OBSOLETE: Medrano-Roldan syndrome"]],[3051,"Nicolaides-Baraitser syndrome",["Intellectual disability-sparse hair-brachydactyly syndrome"]],[3052,"X-linked intellectual disability-seizures-psoriasis syndrome",["Tranebjaerg-Svejgaard syndrome"]],[3055,"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome",["Young-Hughes syndrome"]],[3056,"X-linked intellectual disability, Brooks type"],[3057,"Monoamine oxidase A deficiency",["Brunner syndrome"]],[3059,"X-linked intellectual disability, Gu type",["MRX35"]],[3061,"OBSOLETE: X-linked intellectual disability, Raynaud type"],[3062,"OBSOLETE: X-linked intellectual disability, Schutz type"],[3063,"X-linked intellectual disability, Snyder type",["Snyder-Robinson syndrome"]],[3064,"OBSOLETE: X-linked intellectual disability, Wittner type"],[3065,"X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome"],[3067,"OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome"],[3068,"Intellectual disability-myopathy-short stature-endocrine defect syndrome",["Chudley-Rozdilsky syndrome"]],[3071,"Costello syndrome",["FCS syndrome","Faciocutaneoskeletal syndrome"]],[3074,"Intellectual disability-short stature-hypertelorism syndrome",["Stoll-Géraudel-Chauvin syndrome"]],[3077,"X-linked intellectual disability-psychosis-macroorchidism syndrome",["Lindsay-Burn syndrome","PPM-X"]],[3078,"Severe X-linked intellectual disability, Gustavson type",["Gustavson syndrome"]],[3079,"Intellectual disability, Buenos-Aires type",["Mutchinick syndrome"]],[3080,"Intellectual disability, Wolff type",["Wolff-Zimmermann syndrome"]],[3082,"Intellectual disability-polydactyly-uncombable hair syndrome",["Kozlowski-Krajewska syndrome"]],[3084,"Mirhosseini-Holmes-Walton syndrome",["Pigmentary retinopathy-intellectual disability syndrome"]],[3085,"Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome",["Edwards-Sethi syndrome","Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome","Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome"]],[3086,"Autosomal dominant vitreoretinochoroidopathy",["ADVIRC"]],[3087,"Retinohepatoendocrinologic syndrome"],[3088,"Revesz syndrome",["Dyskeratosis congenita with bilateral exudative retinopathy","Retinopathy-anemia-central nervous system anomalies syndrome","Revesz-DeBuse syndrome"]],[3090,"Congenital pulmonary venous return anomaly",["Congenital pulmonary venous connection anomaly"]],[3091,"Congenital systemic veins anomaly"],[3092,"Fixed subaortic stenosis"],[3093,"Congenital aortic valve stenosis"],[3095,"Atypical Rett syndrome",["Atypical RTT","Rett syndrome variant"]],[3096,"Reye syndrome"],[3097,"Meacham syndrome",["Meacham-Winn-Culler syndrome","Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome"]],[3098,"Rhizomelic syndrome, Urbach type"],[3099,"Rheumatic fever",["Acute rheumatic fever"]],[3101,"Richieri Costa-da Silva syndrome",["Myotonia-intellectual disability-skeletal anomalies syndrome"]],[3102,"Richieri Costa-Pereira syndrome",["Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome","Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome"]],[3103,"Roberts syndrome",["Pseudothalidomide syndrome","Roberts-SC phocomelia syndrome","SC phocomelia","SC pseudothalidomide syndrome"]],[3104,"Robin sequence-oligodactyly syndrome",["Pierre Robin sequence-oligodactyly syndrome"]],[3105,"Robinow-like syndrome",["Saal-Greenstein syndrome"]],[3106,"Robinow-Sorauf syndrome"],[3107,"Autosomal dominant Robinow syndrome"],[3109,"Mayer-Rokitansky-Küster-Hauser syndrome",["MRKH syndrome","Rokitansky syndrome"]],[3110,"Rombo syndrome"],[3111,"Rotor syndrome",["Hyperbilirubinemia, Rotor type"]],[3112,"Patella aplasia-coxa vara-tarsal synostosis syndrome"],[3115,"Roussy-Lévy syndrome",["Hereditary areflexic dystasia, Roussy-Lévy type"]],[3118,"Rudiger syndrome"],[3121,"Ruvalcaba syndrome"],[3122,"OBSOLETE: Sinus node disease-myopia syndrome"],[3123,"Brittle hair syndrome, Sabinas type",["Brittle hair-mental deficiency syndrome","Trichothiodystrophy type B"]],[3124,"Saccharopinuria",["Hyperlysinemia type II","Saccharopine dehydrogenase deficiency"]],[3128,"OBSOLETE: Sakati-Nyhan syndrome",["OBSOLETE: ACPS III","OBSOLETE: ACPS with leg hypoplasia","OBSOLETE: Acrocephalopolysyndactyly type 3","OBSOLETE: Sakati syndrome","OBSOLETE: Sakati-Nyhan-Tisdale syndrome"]],[3129,"Sarcosinemia",["Sarcosine dehydrogenase complex deficiency"]],[3130,"Satoyoshi syndrome",["Komuragaeri disease"]],[3132,"Say-Barber-Miller syndrome",["Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome"]],[3133,"OBSOLETE: Say-Field-Coldwell syndrome",["OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome"]],[3134,"SCARF syndrome"],[3135,"NON RARE IN EUROPE: Scheuermann's disease",["NON RARE IN EUROPE: Scheuermann juvenile kyphosis","NON RARE IN EUROPE: Spinal osteochondrosis"]],[3137,"Alpha-N-acetylgalactosaminidase deficiency",["NAGA deficiency","Schindler disease"]],[3138,"Ulnar-mammary syndrome",["Pallister ulnar-mammary syndrome","Schinzel syndrome","UMS"]],[3140,"NON RARE IN EUROPE: Schizophrenia"],[3143,"Autoimmune polyendocrinopathy type 2",["APS type 2","APS2","Autoimmune polyendocrine syndrome type 2","Autoimmune polyglandular syndrome type 2","Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome","Schmidt syndrome"]],[3144,"Schneckenbecken dysplasia",["Chondrodysplasia with snail-like pelvis","SLC35D1-CDG"]],[3145,"Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome",["Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome"]],[3148,"Malignant peripheral nerve sheath tumor",["MPNST","Malignant neurilemmoma","Malignant neurofibroma","Malignant schwannoma","Neurofibrosarcoma","Neurogenic sarcoma"]],[3151,"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"],[3152,"Sclerosteosis",["Cortical hyperostosis-syndactyly syndrome"]],[3153,"NON RARE IN EUROPE: Adolescent idiopathic scoliosis"],[3156,"Senior-Loken syndrome",["Nephronophthisis with retinal dystrophy","Renal dysplasia-retinal aplasia syndrome","SLSN"]],[3157,"Septo-optic dysplasia spectrum",["De Morsier syndrome","SOD","Septo-optic dysplasia"]],[3160,"OBSOLETE: Vascular disruption sequence"],[3161,"Congenital pulmonary sequestration",["Congenital bronchopulmonary sequestration"]],[3162,"Sézary syndrome",["Sézary lymphoma"]],[3163,"SHORT syndrome",["Lipodystrophy-Rieger anomaly-diabetes syndrome","Rieger anomaly-partial lipodystrophy syndrome"]],[3164,"Omphalocele syndrome, Shprintzen-Goldberg type"],[3165,"Eosinophilic fasciitis",["Diffuse fasciitis with eosinophilia","Shulman syndrome"]],[3166,"Sialuria",["Sialuria, French type"]],[3167,"Siegler-Brewer-Carey syndrome"],[3168,"Sillence syndrome"],[3169,"Sirenomelia"],[3172,"Eyebrow duplication-syndactyly syndrome"],[3173,"Infantile spasms-broad thumbs syndrome",["Tsao-Ellingson syndrome"]],[3175,"X-linked spasticity-intellectual disability-epilepsy syndrome"],[3176,"Spina bifida-hypospadias syndrome"],[3177,"Spinocerebellar degeneration-corneal dystrophy syndrome",["Der Kaloustian-Jarudi-Khoury syndrome"]],[3180,"Spondylocamptodactyly syndrome"],[3181,"Sprengel deformity",["High scapula"]],[3184,"Steatocystoma multiplex-natal teeth syndrome"],[3185,"NON RARE IN EUROPE: Polycystic ovary syndrome",["NON RARE IN EUROPE: PCOS","NON RARE IN EUROPE: Polycystic ovarian syndrome","NON RARE IN EUROPE: Stein-Leventhal syndrome"]],[3186,"Holoprosencephaly-radial heart renal anomalies syndrome",["Steinfeld syndrome"]],[3188,"Congenital pulmonary veins atresia or stenosis"],[3189,"Congenital pulmonary valvar stenosis",["Congenital stenosis of pulmonary valve"]],[3190,"Subpulmonary stenosis"],[3191,"Subaortic stenosis-short stature syndrome",["Onat syndrome"]],[3192,"Supravalvular pulmonary stenosis"],[3193,"Supravalvular aortic stenosis",["SVAS"]],[3194,"Corneodermatoosseous syndrome",["CDO syndrome","Stern-Lubinsky-Durrie syndrome"]],[3195,"Sternal malformation-vascular dysplasia syndrome"],[3196,"Steroid dehydrogenase deficiency-dental anomalies syndrome",["Lyngstadaas syndrome"]],[3197,"Hereditary hyperekplexia",["Congenital stiff man syndrome","Familial startle disease","Hereditary hyperexplexia","Kok disease","Stiff baby syndrome"]],[3198,"Stiff person spectrum disorder",["Moersch-Woltman syndrome","SMS","SPS","Stiff man spectrum disorder"]],[3199,"Stimmler syndrome"],[3200,"Arthrogryposis-ectodermal dysplasia syndrome",["Stoll-Alembik-Finck syndrome"]],[3201,"Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome",["Stoll-Kieny-Dott syndrome"]],[3202,"Dehydrated hereditary stomatocytosis",["Hereditary xerocytosis"]],[3203,"Overhydrated hereditary stomatocytosis"],[3204,"Stormorken-Sjaastad-Langslet syndrome",["Stormorken syndrome","Thrombocytopathy-asplenia-miosis syndrome"]],[3205,"Sturge-Weber syndrome",["Encephalofacial angiomatosis","Encephalotrigeminal angiomatosis","SWS","Sturge-Weber-Dimitri syndrome","Sturge-Weber-Krabbe angiomatosis","Sturge-Weber-Krabbe syndrome"]],[3206,"Stüve-Wiedemann syndrome",["Neonatal Schwartz-Jampel syndrome","SJS2","STWS","SWS","Schwartz-Jampel syndrome type 2","Stüve-Wiedemann dysplasia","Stüve-Wiedemann syndrome type 1"]],[3207,"White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome",["Curatolo-Cilio-Pessagno syndrome"]],[3208,"Isolated succinate-CoQ reductase deficiency",["Isolated mitochondrial respiratory chain complex II deficiency","Isolated succinate dehydrogenase deficiency","Isolated succinate-coenzyme Q reductase deficiency","Isolated succinate-ubiquinone reductase deficiency"]],[3210,"Summitt syndrome"],[3212,"Autosomal dominant optic atrophy and congenital deafness",["Autosomal dominant optic atrophy and congenital hearing loss","Konigsmark-Knox-Hussels syndrome"]],[3213,"Deafness-opticoacoustic nerve atrophy-dementia syndrome",["Jensen syndrome","hearing loss-opticoacoustic nerve atrophy-dementia syndrome"]],[3214,"Deaf blind hypopigmentation syndrome, Yemenite type",["Warburg-Thomsen syndrome","Yemenite deaf-blind hypopigmentation syndrome"]],[3215,"OBSOLETE: Deafness-white hair-contractures-papillomas syndrome",["OBSOLETE: Davenport-Donlan syndrome"]],[3216,"Conductive deafness-malformed external ear syndrome",["Conductive hearing loss-malformed external ear syndrome","Mengel-Konigsmark syndrome"]],[3217,"Deafness-small bowel diverticulosis-neuropathy syndrome",["Groll-Hirschowitz syndrome","Hearing loss-small bowel diverticulosis-neuropathy syndrome"]],[3218,"Deafness-epiphyseal dysplasia-short stature syndrome",["Chitty-Hall-Baraitser syndrome","Hearing loss-epiphyseal dysplasia-short stature syndrome"]],[3219,"Fountain syndrome",["Deafness-skeletal dysplasia-coarse face with full lips syndrome","Deafness-skeletal dysplasia-lip granuloma syndrome","Hearing loss-skeletal dysplasia-coarse face with full lips syndrome","Hearing loss-skeletal dysplasia-lip granuloma syndrome"]],[3220,"Deafness-enamel hypoplasia-nail defects syndrome",["Hearing loss-enamel hypoplasia-nail defects syndrome","Heimler syndrome"]],[3221,"Generalized resistance to thyroid hormone",["Deafness-thyroid hormone resistance syndrome","Hearing loss-thyroid hormone resistance syndrome","Refetoff syndrome"]],[3222,"Phosphoribosylpyrophosphate synthetase superactivity",["PRPP synthetase superactivity","PRPS1 superactivity"]],[3224,"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome",["Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome","Pfeiffer-Kapferer syndrome"]],[3225,"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome",["Tungland-Bellman syndrome"]],[3226,"Deafness-lymphedema-leukemia syndrome",["Emberger syndrome","Hearing loss-lymphedema-leukemia syndrome"]],[3228,"OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome",["OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome","OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome"]],[3229,"OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome"],[3230,"Deafness-oligodontia syndrome",["Hearing loss-oligodontia syndrome"]],[3231,"Deafness-onychodystrophy syndrome",["Hearing loss-onychodystrophy syndrome"]],[3232,"Deafness-ear malformation-facial palsy syndrome",["Hearing loss-ear malformation-facial palsy syndrome","Sellars-Beighton syndrome"]],[3233,"Cochleosaccular degeneration-cataract syndrome"],[3235,"Progressive deafness with stapes fixation",["Progressive hearing loss with stapes fixation","Stapedo-vestibular ankylosis","Thies-Reis syndrome"]],[3236,"Conductive deafness-ptosis-skeletal anomalies syndrome",["Conductive hearing loss-ptosis-skeletal anomalies syndrome","Jackson-Barr syndrome"]],[3237,"Multiple synostoses syndrome",["Deafness-Hermann type symphalangism syndrome","Facio-audio-symphalangism","Hearing loss-Hermann type symphalangism syndrome","Symphalangism-brachydactyly syndrome","WL syndrome"]],[3238,"Cardiospondylocarpofacial syndrome",["Forney syndrome","Forney-Robinson-Pascoe syndrome","Mitral regurgitation-deafness-skeletal anomalies syndrome","Mitral regurgitation-hearing loss-skeletal anomalies syndrome"]],[3239,"Deafness-vitiligo-achalasia syndrome",["Hearing loss-vitiligo-achalasia syndrome"]],[3240,"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome",["Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome"]],[3241,"Deafness-craniofacial syndrome",["Hearing loss-craniofacial syndrome"]],[3242,"Renpenning syndrome",["X-linked intellectual disability due to PQBP1 mutations","X-linked intellectual disability, Renpenning type"]],[3243,"Sweet syndrome",["Acute febrile neutrophilic dermatosis"]],[3246,"Symphalangism with multiple anomalies of hands and feet",["Learman syndrome"]],[3248,"Isolated distal symphalangism"],[3250,"Proximal symphalangism",["Symphalangism, Cushing type"]],[3253,"Cleft lip/palate-ectodermal dysplasia syndrome",["CLPED1","Cleft lip/palate-syndactyly-pili torti syndrome","Syndactyly-ectodermal dysplasia-cleft/lip palate","Zlotogora-Ogur syndrome"]],[3255,"Filippi syndrome",["Type 1 syndactyly-microcephaly-intellectual disability syndrome"]],[3258,"Cenani-Lenz syndrome",["Cenani syndactyly","Cenani-Lenz syndactyly","Syndactyly type 7"]],[3259,"Syndactyly-polydactyly-ear lobe syndrome"],[3260,"Idiopathic hypereosinophilic syndrome"],[3261,"Autoimmune lymphoproliferative syndrome",["ALPS","Canale-Smith syndrome"]],[3262,"Dobrow syndrome",["Syngnathia-multiple anomalies syndrome"]],[3263,"Syngnathia-cleft palate syndrome"],[3265,"Isolated humero-radial synostosis",["Isolated congenital humeroradial fusion"]],[3266,"Isolated humero-radio-ulnar synostosis",["Isolated congenital humero-radioulnar fusion"]],[3267,"OBSOLETE: Familial lambdoid synostosis"],[3268,"Radioulnar synostosis-microcephaly-scoliosis syndrome",["Giuffré-Tsukahara syndrome","Tsukahara syndrome"]],[3269,"Isolated radio-ulnar synostosis",["Isolated congenital radioulnar fusion"]],[3270,"Radioulnar synostosis-developmental delay-hypotonia syndrome",["Der Kaloustian-McIntosh-Silver syndrome"]],[3271,"Radio-ulnar synostosis-retinal pigment abnormalities syndrome",["Buntinx-Lormans-Martin syndrome"]],[3273,"Synovial sarcoma",["Synovialosarcoma"]],[3274,"Granulomatous arthritis of childhood",["Autoinflammatory granulomatosis of childhood","Granulomatous inflammatory arthritis, dermatitis, and uveitis","Granulomatous synovitis-uveitis syndrome","PGA","Pediatric granulomatous arthritis"]],[3275,"Spondylocarpotarsal synostosis",["Synspondylism"]],[3276,"Disorder of plasmalogens biosynthesis"],[3280,"Syringomyelia"],[3282,"Multifocal atrial tachycardia",["Chaotic atrial tachycardia","MAT"]],[3283,"His bundle tachycardia",["JET","Junctional ectopic tachycardia"]],[3284,"OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome"],[3286,"Catecholaminergic polymorphic ventricular tachycardia",["Bidirectional ventricular tachycardia induced by catecholamine","CPVT","Malignant paroxysmal ventricular tachycardia","Polymorphic ventricular tachycardia induced by catecholamines"]],[3287,"Takayasu arteritis"],[3289,"NON RARE IN EUROPE: Taurodontism"],[3291,"Teebi-Shaltout syndrome"],[3292,"Tel Hashomer camptodactyly syndrome",["Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome"]],[3293,"Telecanthus-hypertelorism-strabismus-pes cavus syndrome"],[3294,"Extensor tendons of finger anomalies",["Hapnes-Boman-Skeie syndrome"]],[3299,"Tetanus"],[3301,"Tetraamelia-multiple malformations syndrome",["PAPPA syndrome","PAPPAS","Zimmer phocomelia"]],[3303,"Tetralogy of Fallot"],[3304,"Fallot complex-intellectual disability-growth delay syndrome",["Bindewald-Ulmer-Müller syndrome"]],[3305,"Tetraploidy syndrome"],[3306,"Inverted duplicated chromosome 15 syndrome",["Duplication/inversion 15q11","Inv dup (15) syndrome","Isodicentric chromosome 15 syndrome","Non-distal tetrasomy 15q","Non-telomeric tetrasomy 15q","idic (15) syndrome"]],[3307,"Tetrasomy 18p syndrome",["Isochromosome 18p"]],[3309,"Tetrasomy 5p syndrome",["Isochromosome 5p"]],[3310,"Tetrasomy 9p syndrome",["Isochromosome 9p"]],[3311,"OBSOLETE: Infantile symmetrical thalamic degeneration"],[3312,"Thalidomide embryopathy",["Fetal thalidomide syndrome"]],[3313,"OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome",["OBSOLETE: Thiele syndrome"]],[3314,"Thiemann disease, familial form",["Aseptic necrosis of phalangeal epiphyses","Osteochondrosis of phalangeal epiphyses"]],[3316,"Thomas syndrome",["Potter sequence-cleft lip/palate-cardiopathy syndrome"]],[3317,"Thoracolaryngopelvic dysplasia",["Barnes syndrome"]],[3318,"Essential thrombocythemia",["ET","Essential thrombocytosis"]],[3319,"Congenital amegakaryocytic thrombocytopenia",["CAMT"]],[3320,"Thrombocytopenia-absent radius syndrome",["TAR syndrome"]],[3322,"Hoyeraal-Hreidarsson syndrome",["Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome"]],[3323,"Braddock-Carey syndrome",["Thrombocytopenia-Robin sequence syndrome"]],[3324,"Familial thrombomodulin anomalies"],[3325,"Classic heparin-induced thrombocytopenia",["Classic HAT","Classic HIT","Classic heparin-associated thrombocytopenia","HITT","Heparin-induced-immune thrombocytopenia"]],[3326,"Thymic-renal-anal-lung dysplasia"],[3327,"Thyrocerebrorenal syndrome",["Cutler-Bass-Romshe syndrome"]],[3328,"Absent tibia-polydactyly-arachnoid cyst syndrome",["Holmes-Collins syndrome"]],[3329,"Tibial aplasia-ectrodactyly syndrome",["Aplasia of tibia with split-hand/split-foot deformity","SHFLD syndrome","SHFM associated with aplasia of long bones","Split hand/foot malformation with long bone deficiency","Split-hand/foot malformation associated with aplasia of long bones","TH-SHFM","Tibial hemimelia with split hand/foot malformation","Tibial hemimelia-ectrodactyly syndrome"]],[3331,"OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome",["OBSOLETE: Chitty-Hall-Webb syndrome"]],[3332,"Hypoplastic tibiae-postaxial polydactyly syndrome",["Hypoplastic tibia-polydactyly syndrome","Werner mesomelic syndrome"]],[3333,"Connective tissue dysplasia, Spellacy type",["Spellacy-Gibbs-Watts syndrome"]],[3336,"TomÚ-Brunet-Fardeau syndrome"],[3337,"Primary Fanconi renotubular syndrome",["DeToni-Debré-Fanconi syndrome","Primary Fanconi renal syndrome"]],[3338,"Toriello-Carey syndrome",["Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome"]],[3339,"Oculoectodermal syndrome",["Aplasia cutis congenita-epibulbar dermoids syndrome","Toriello Lacassie Droste syndrome"]],[3340,"OBSOLETE: Torres-Aybar syndrome"],[3341,"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"],[3342,"Arterial tortuosity syndrome",["ATS"]],[3343,"Toxocariasis"],[3344,"Weismann-Netter syndrome",["Anterior bowing of legs with dwarfism","Toxopachyosteose diaphysaire tibio-peroniere","WNS","Weismann-Netter-Stuhl syndrome"]],[3346,"Tracheal agenesis",["Tracheal atresia"]],[3347,"Mounier-Kühn syndrome",["Congenital tracheobronchomegaly","Idiopathic tracheobronchomegaly","Tracheobronchomegaly"]],[3348,"Tracheobronchopathia osteochondroplastica",["Tracheopathia osteoplastica"]],[3349,"Treft-Sanborn-Carey syndrome",["Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome","Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome"]],[3350,"Tremor-nystagmus-duodenal ulcer syndrome",["Neuhauser-Daly-Magnelli syndrome"]],[3351,"Trichodental syndrome",["Kersey syndrome"]],[3352,"Tricho-dento-osseous syndrome",["TDO syndrome"]],[3353,"Trichodermodysplasia-dental alterations syndrome",["Pinheiro-Freire Maia-Miranda syndrome"]],[3354,"OBSOLETE: Tricho-oculo-dermo-vertebral syndrome",["OBSOLETE: Alves-dos Santos-Castelo syndrome","OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome"]],[3355,"Trichoodontoonychial dysplasia",["Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region"]],[3357,"OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly",["OBSOLETE: Trueb-Burg-Bottani syndrome"]],[3360,"OBSOLETE: Trichodermal syndrome-intellectual disability syndrome",["OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome"]],[3361,"Trichodysplasia-xeroderma syndrome"],[3362,"OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome",["OBSOLETE: Goldstein-Hutt syndrome"]],[3363,"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome",["Long eyelashes-intellectual disability syndrome","Oliver-McFarlane syndrome"]],[3365,"Trigonocephaly-broad thumbs syndrome",["Hunter-Rudd-Hoffmann syndrome"]],[3366,"Non-syndromic metopic craniosynostosis",["Isolated metopic craniosynostosis","Isolated trigonocephaly","Non-syndromic metopic suture synostosis"]],[3368,"Trigonocephaly-bifid nose-acral anomalies syndrome"],[3369,"Trigonocephaly-short stature-developmental delay syndrome",["Say-Meyer syndrome"]],[3374,"Unilateral ocular duplication",["Triophthalmia","Triopia","Unilateral diplophthalmia","Unilateral diplophthalmos"]],[3375,"Trisomy X syndrome",["47,XXX syndrome","Triplo-X syndrome","XXX syndrome"]],[3376,"Triploidy syndrome"],[3377,"Trismus-pseudocamptodactyly syndrome",["Distal arthrogryposis type 7","Dutch-Kentucky syndrome","Hecht syndrome","Hecht-Beals syndrome"]],[3378,"Trisomy 13 syndrome",["Patau syndrome"]],[3379,"Distal duplication 17q syndrome",["Distal trisomy 17q","Telomeric duplication 17q","Trisomy 17qter"]],[3380,"Trisomy 18 syndrome",["Chromosome 18 duplication","Edwards syndrome"]],[3383,"Humerus trochlea hypoplasia"],[3384,"Common arterial trunk",["CAT","Common aorticopulmonary trunk","Common truncus arteriosus","Persistent truncus arteriosus","Truncus arteriosus","Truncus arteriosus communis"]],[3385,"African trypanosomiasis",["Sleeping sickness"]],[3386,"American trypanosomiasis",["Chagas disease"]],[3387,"Isolated anterior cervical hypertrichosis",["Hairy throat syndrome","Tsukahara-Kajii syndrome"]],[3388,"Neural tube defect"],[3389,"Tuberculosis"],[3390,"Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome"],[3391,"Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome",["Ectodermal dysplasia-adrenal cyst syndrome","Tuffli-Laxova syndrome"]],[3392,"Tularemia"],[3394,"Soft tissue sarcoma",["Malignant mesenchymal tumor","Malignant soft tissue tumor","Soft part sarcoma"]],[3398,"Thymic epithelial neoplasm",["TEN","Thymic epithelial tumor"]],[3399,"Germ cell tumor"],[3400,"Aorto-ventricular tunnel"],[3402,"Transient tyrosinemia of the newborn",["Transient tyrosinemia of the neonate"]],[3403,"Uhl anomaly"],[3404,"Ulbright-Hodes syndrome",["Renal dysplasia-limb defects syndrome","Renal dysplasia-mesomelia-radiohumeral fusion syndrome"]],[3405,"Umbilical cord ulceration-intestinal atresia syndrome"],[3406,"Ulerythema ophryogenesis"],[3408,"Upington disease",["Hip dysplasia-enchondromata-ecchondroma syndrome"]],[3409,"Urban-Rogers-Meyer syndrome",["Intellectual disability-short stature-hand contractures-genital anomalies syndrome","Prader-Willi habitus-osteopenia-camptodactyly syndrome"]],[3411,"Double uterus-hemivagina-renal agenesis syndrome",["Double uterus and obstructed hemivagina syndrome","HWW syndrome","Herlyn-Werner-Wunderlich syndrome","OHVIRA syndrome","Obstructed hemivagina and ipsilateral renal anomaly"]],[3412,"VACTERL with hydrocephalus",["Sujansky-Leonard syndrome"]],[3416,"Hyperostosis corticalis generalisata",["Hyperphosphatasemia tarda","Van Buchem disease"]],[3417,"OBSOLETE: Van den Bosch syndrome"],[3419,"OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome"],[3421,"Cerebroretinal vasculopathy",["CRV","Grand-Kaine-Fulling syndrome"]],[3423,"Vasquez-Hurst-Sotos syndrome",["Hypogonadism-gynecomastia-X-linked intellectual disability syndrome"]],[3424,"Velo-facial-skeletal syndrome"],[3426,"Double outlet right ventricle",["DORV"]],[3427,"Double outlet left ventricle",["DOLV"]],[3429,"Verloove Vanhorick-Brubakk syndrome",["Cleft lip-limb and heart malformations syndrome"]],[3433,"Microcephaly-brachydactyly-kyphoscoliosis syndrome",["Viljoen-Kallis-Voges syndrome"]],[3434,"MMEP syndrome",["MCOPS8","Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome","Syndromic microphthalmia type 8","Viljoen-Smart syndrome"]],[3435,"NON RARE IN EUROPE: Vitiligo"],[3437,"Vogt-Koyanagi-Harada disease",["Uveomenigitic syndrome"]],[3438,"Biliary tract malformation-renal failure syndrome",["Cholestatic jaundice-renal tubular insufficiency syndrome","Lutz-Richner-Landolt syndrome"]],[3439,"Von Voss-Cherstvoy syndrome",["DK phocomelia syndrome","Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome"]],[3440,"Waardenburg syndrome"],[3444,"Watson syndrome",["Pulmonic stenosis with 'café-au-lait' spots"]],[3446,"Weaver-like syndrome"],[3447,"Weaver syndrome",["EZH2-related overgrowth syndrome"]],[3448,"Weaver-Williams syndrome"],[3449,"Weill-Marchesani syndrome"],[3450,"Weissenbacher-Zweymuller syndrome",["Pierre Robin sequence-fetal chondrodysplasia syndrome","Pierre Robin syndrome-fetal chondrodysplasia syndrome"]],[3451,"West syndrome",["Intellectual disability-hysarrhytmia syndrome"]],[3452,"Whipple disease",["Intestinal lipodystrophy"]],[3453,"Autoimmune polyendocrinopathy type 1",["APECED syndrome","APS type 1","APS1","Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome","Autoimmune polyendocrine syndrome type 1","Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome","Autoimmune polyglandular syndrome type 1","HAM syndrome","Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome","MEDAC syndrome","Multiple endocrine deficiency-Addison disease-candidiasis syndrome"]],[3454,"Wieacker-Wolff syndrome",["Foot contractures-muscle atrophy-oculomotor apraxia syndrome"]],[3455,"Wiedemann-Rautenstrauch syndrome",["Neonatal progeroid syndrome"]],[3456,"Wildervanck syndrome",["Cervicooculoacoustic syndrome"]],[3459,"Wilson-Turner syndrome",["WTS","X-linked intellectual disability-gynecomastia-obesity syndrome"]],[3460,"Torg-Winchester syndrome"],[3463,"Wolfram syndrome",["Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome","Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome","DIDMOAD syndrome","Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome","Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome"]],[3464,"Woodhouse-Sakati syndrome",["Diabetes-hypogonadism-deafness-intellectual disability syndrome","Diabetes-hypogonadism-hearing loss-intellectual disability syndrome"]],[3465,"Worster-Drought syndrome",["Congenital suprabulbar paresis"]],[3466,"WT limb-blood syndrome"],[3467,"Hereditary xanthinuria",["Classic xanthinuria","Xanthic urolithiasis","Xanthine stone disease"]],[3469,"XK aprosencephaly syndrome",["Garcia-Lurie syndrome","XK syndrome","XK-aprosencephaly"]],[3471,"Young syndrome",["Azoospermia-sinopulmonary infections syndrome","Sinusitis-infertility syndrome"]],[3472,"Yunis-Varon syndrome",["Cleidocranial dysplasia-micrognathia-absent thumbs syndrome"]],[3473,"Zimmermann-Laband syndrome",["Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome","Laband syndrome"]],[3474,"CHIME syndrome",["Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome","Congenital disorder of glycosylation due to PIGL deficiency","Neuroectodermal dysplasia, CHIME type","Neuroectodermal syndrome, Zunich type","PIGL-CDG","Zunich-Kaye syndrome"]],[25968,"OBSOLETE: Self-limited childhood occipital epilepsy",["OBSOLETE: Benign occipital epilepsy"]],[25980,"X-linked myopathy with excessive autophagy",["XMEA"]],[26106,"Hereditary diffuse gastric cancer",["FDGC","Familial diffuse cancer of stomach","Familial diffuse gastric cancer","HDGC","Hereditary diffuse cancer of stomach","Hereditary diffuse gastric adenocarcinoma"]],[26137,"Juvenile temporal arteritis",["JTA","Non-giant cell granulomatous temporal arteritis with eosinophilia"]],[26348,"Acquired prothrombin deficiency",["Acquired hypoprothrombinemia"]],[26349,"Protein S acquired deficiency"],[26790,"Pseudomyxoma peritonei",["Adenomucinosis","Gelatinous ascites","PMP"]],[26791,"Multiple acyl-CoA dehydrogenase deficiency",["Glutaric acidemia type 2","Glutaric aciduria type 2","MAD deficiency","MADD"]],[26792,"Short chain acyl-CoA dehydrogenase deficiency",["ACADS deficiency","SCAD deficiency","SCADD"]],[26793,"Very long chain acyl-CoA dehydrogenase deficiency",["VLCAD deficiency","VLCADD"]],[26823,"NON RARE IN EUROPE: Pigment-dispersion syndrome"],[28378,"Tyrosinemia type 2",["Keratosis palmoplantaris-corneal dystrophy syndrome","Oculocutaneous tyrosinemia","Richner-Hanhart syndrome","Tyrosinemia due to TAT deficiency","Tyrosinemia due to tyrosine aminotransferase deficiency","Tyrosinemia type II"]],[28455,"OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus"],[29072,"Hereditary pheochromocytoma-paraganglioma",["Familial pheochromocytoma-paraganglioma"]],[29073,"Multiple myeloma",["Kahler disease","Medullary plasmacytoma","Myelomatosis","Plasma cell myeloma"]],[29207,"Reactive arthritis",["Fiessinger-Leroy disease"]],[29822,"Spontaneous periodic hypothermia",["Episodic spontaneous hypothermia","Shapiro syndrome"]],[30391,"Isolated biliary atresia",["Isolated atresia of bile ducts","Non-syndromic biliary atresia"]],[30924,"Primary hypomagnesemia with secondary hypocalcemia",["Hypomagnesemia caused by selective magnesium malabsorption","Hypomagnesemia intestinal type 1","Intestinal hypomagnesemia with secondary hypocalcemia","PHSH","HOMG1","HSH"]],[30925,"Hereditary arginine vasopressin deficiency",["Hereditary CDI","Hereditary neurogenic diabetes insipidus"]],[31043,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement",["FHHNC without severe ocular involvement","HOMG3","Renal hypomagnesemia type 3"]],[31112,"Dermatofibrosarcoma protuberans",["DFSP"]],[31142,"NON RARE IN EUROPE: Oral erosive lichen"],[31150,"Tangier disease",["ATP-binding cassette transporter A1 deficiency","Analphalipoproteinemia"]],[31153,"Hypoalphalipoproteinemia"],[31154,"Hypobetalipoproteinemia"],[31202,"Melioidosis",["Burkholderia pseudomallei infection"]],[31204,"Nocardiosis"],[31205,"Rat-bite fever"],[31709,"Infantile convulsions and choreoathetosis",["ICCA syndrome","Paroxysmal kinesigenic dyskinesia and infantile convulsions"]],[31740,"Hypersensitivity pneumonitis",["Extrinsic allergic alveolitis"]],[31824,"Colchicine poisoning"],[31825,"Methanol poisoning"],[31826,"Ethylene glycol poisoning"],[31827,"Paraquat poisoning"],[31828,"Digitalis poisoning"],[31837,"Pulmonary venoocclusive disease"],[32960,"Tumor necrosis factor receptor 1 associated periodic syndrome",["Familial Hibernian fever","TNF receptor 1-associated periodic syndrome","TRAPS syndrome"]],[33001,"Lymphedema-distichiasis syndrome"],[33067,"Metaphyseal chondrodysplasia, Jansen type"],[33069,"Dravet syndrome",["SMEI","Severe myoclonic epilepsy of infancy","Severe myoclonus epilepsy of infancy"]],[33108,"Lethal multiple pterygium syndrome",["LMPS","Autosomal recessive lethal multiple pterygium syndrome"]],[33110,"Autosomal non-syndromic agammaglobulinemia",["Autosomal non-syndromic hypogammaglobulinemia","Non-syndromic agammaglobulinemia, non-Bruton type"]],[33111,"Granulomatous slack skin"],[33208,"Idiopathic hypersomnia",["Idiopathic excessive sleepiness"]],[33226,"Waldenström macroglobulinemia"],[33271,"NON RARE IN EUROPE: Non-alcoholic fatty liver disease",["NON RARE IN EUROPE: NAFLD"]],[33276,"Kaposi sarcoma"],[33314,"Jessner lymphocytic infiltration of the skin",["Jessner-Kanof lymphocytic infiltration of the skin"]],[33355,"Reticular dysgenesis",["AK2 deficiency","De Vaal disease","SCID with sensorineural deafness","SCID with sensorineural hearing loss","Severe combined immunodeficiency with sensorineural deafness","Severe combined immunodeficiency with sensorineural hearing loss"]],[33364,"Trichothiodystrophy"],[33402,"Pediatric hepatocellular carcinoma",["Childhood-onset HCC","Childhood-onset hepatocellular carcinoma","Pediatric HCC"]],[33408,"Bullous lichen planus"],[33409,"NON RARE IN EUROPE: Lichen sclerosus",["NON RARE IN EUROPE: Lichen sclerosus et atrophicus"]],[33445,"Neuroectodermal melanolysosomal disease",["Elejalde neuroectodermal melanolysosomal disease"]],[33475,"Meningococcal meningitis"],[33543,"Kleine-Levin syndrome"],[33572,"5-oxoprolinase deficiency",["Oxoprolinuria due to oxoprolinase deficiency"]],[33573,"Gamma-glutamyl transpeptidase deficiency",["Gamma-glutamyl transferase deficiency","Glutathionuria"]],[33574,"Glutamate-cysteine ligase deficiency",["Gamma-glutamylcysteine synthetase deficiency"]],[33577,"Nodular non-suppurative panniculitis",["Idiopathic lobular panniculitis","Idiopathic nodular panniculitis","Pfeiffer-Weber-Christian syndrome","Relapsing febrile nodular nonsuppurative panniculitis","Relapsing febrile nodular panniculitis","WCD","Weber-Christian disease","Weber-Christian panniculitis"]],[34145,"Immunoglobulin A nephropathy",["Berger disease","IgA nephropathy"]],[34149,"Autosomal dominant tubulointerstitial kidney disease",["ADTKD","Familial juvenile hyperuricemic nephropathy","MCKD","Medullary cystic kidney disease"]],[34217,"Naxos disease",["KWWH type I","Keratoderma with woolly hair type I","Keratosis palmoplantaris with arrythmogenic cardiomyopathy","Naxos syndrome","Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy","Palmoplantar keratoderma with arrythmogenic cardiomyopathy"]],[34412,"NON RARE IN EUROPE: HAIR-AN syndrome",["NON RARE IN EUROPE: Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome"]],[34514,"Telethonin-related limb-girdle muscular dystrophy R7",["Autosomal recessive limb-girdle muscular dystrophy type 2G","LGMD due to telethonin deficiency","LGMD type 2G","LGMD2G","Limb-girdle muscular dystrophy due to telethonin deficiency","Limb-girdle muscular dystrophy type 2G","Telethonin-related LGMD R7"]],[34515,"FKRP-related limb-girdle muscular dystrophy R9",["Autosomal recessive limb-girdle muscular dystrophy type 2I","FKRP-related LGMD R9","LGMD due to FKRP deficiency","LGMD type 2I","LGMD2I","Limb-girdle muscular dystrophy due to FKRP deficiency","Limb-girdle muscular dystrophy type 2I"]],[34516,"DNAJB6-related limb-girdle muscular dystrophy D1",["Autosomal dominant limb-girdle muscular dystrophy type 1D","DNAJB6-related LGMD D1","LGMD type 1D","LGMD1D","Limb-girdle muscular dystrophy type 1D"]],[34517,"Autosomal dominant limb-girdle muscular dystrophy type 1E",["LGMD1E"]],[34520,"Congenital muscular dystrophy with integrin alpha-7 deficiency",["Congenital muscular dystrophy with ITGA7 deficiency"]],[34521,"Distal myopathy with early respiratory muscle involvement"],[34526,"OBSOLETE: Genetic primary hypomagnesemia"],[34527,"OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia"],[34528,"Autosomal dominant primary hypomagnesemia with hypocalciuria",["HOMG2","Isolated autosomal dominant hypomagnesemia","Isolated renal magnesium wasting","Renal hypomagnesemia type 2"]],[34533,"Corneal dystrophy"],[34587,"Danon disease",["GSD due to LAMP-2 deficiency","GSD, type 2B","GSD, type IIb","Glycogen storage disease due to LAMP-2 deficiency","Glycogen storage disease, type 2B","Glycogen storage disease, type IIb","Glycogenosis due to LAMP-2 deficiency","Lysosomal glycogen storage disease with normal acid maltase activity"]],[34592,"Immunodeficiency by defective expression of MHC class I",["Bare lymphocyte syndrome type 1","MHC class I deficiency"]],[35056,"NON RARE IN EUROPE: Trimethylaminuria",["NON RARE IN EUROPE: Fish-odor syndrome"]],[35061,"OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes"],[35062,"Severe disseminated cytomegalovirus infection in immunocompetent patients",["Severe disseminated CMV infection in immunocompetent patients"]],[35063,"Fulminant viral hepatitis"],[35064,"OBSOLETE: Lethal idiopathic viral infection"],[35065,"OBSOLETE: Idiopathic severe pneumococcemia"],[35066,"NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis",["NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidiasis"]],[35069,"PLA2G6-related neurodegeneration, infantile-onset",["INAD","Infantile neuroaxonal dystrophy","Infantile PLAN","Infantile phospholipase A2-associated neurodegeneration","Seitelberger disease","PLA2G6-associated neurodegeneration, infantile-onset"]],[35078,"T-B+NK- severe combined immunodeficiency due to JAK3 deficiency",["T-B+NK- SCID due to JAK3 deficiency"]],[35093,"Non-syndromic sagittal craniosynostosis",["Isolated sagittal craniosynostosis","Isolated scaphocephaly","Non-syndromic sagittal suture synostosis"]],[35098,"OBSOLETE: Isolated plagiocephaly",["OBSOLETE: Non-syndromic unicoronal synostosis","OBSOLETE: Synostotic plagiocephaly"]],[35099,"Non-syndromic bicoronal craniosynostosis",["Non-syndromic bilateral coronal suture synostosis","Isolated bicoronal craniosynostosis","Isolated synostotic brachycephaly"]],[35107,"Desmosterolosis"],[35120,"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency",["P5N deficiency","UMPH1 deficiency","Uridine 5'-monophosphate hydrolase deficiency"]],[35121,"Lysosomal acid phosphatase deficiency"],[35122,"Congenital sucrase-isomaltase deficiency",["CSID","Congenital sucrose intolerance","Disaccharide intolerance"]],[35123,"OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency",["OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10","OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency","OBSOLETE: HSD deficiency"]],[35125,"Epidermal nevus syndrome",["Epidermal hamartoma syndrome"]],[35173,"X-linked dominant chondrodysplasia punctata",["CDPX2","CDPXD","CPXD","Chondrodystrophia calcificans congenita","Conradi-Hünermann-Happle syndrome","X-linked chondrodysplasia punctata type 2"]],[35612,"Isolated complete colobomatous microphthalmia",["Nanophthalmos","Nanophthalmia"]],[35656,"Coenzyme Q10 deficiency",["CoQ10 deficiency","Primary coenzyme Q10 deficiency","Primary ubiquinone deficiency"]],[35664,"ALDH18A1-related De Barsy syndrome",["Neurocutaneous syndrome, Bicknell type","P5CS deficiency","Delta-1-pyrroline 5-carboxylate synthetase deficiency"]],[35686,"Serpiginous choroiditis",["Geographic helicoid peripapillary choroidopathy"]],[35687,"Erdheim-Chester disease"],[35688,"OBSOLETE: Madelung deformity"],[35689,"Primary lateral sclerosis",["Adult-onset PLS","Adult-onset primary lateral sclerosis","PLS"]],[35696,"Mitochondrial disorder due to a defect in mitochondrial protein synthesis",["COXPD","Combined OXPHOS defect","Combined OXPHOS deficiency","Combined oxidative phosphorylation defect"]],[35698,"Mitochondrial DNA depletion syndrome",["mtDNA depletion syndrome"]],[35701,"3-hydroxy-3-methylglutaryl-CoA synthase deficiency",["HMG-CoA synthase deficiency"]],[35704,"L-Arginine:glycine amidinotransferase deficiency",["AGAT deficiency"]],[35705,"Neurometabolic disorder due to serine deficiency",["Serine deficiency"]],[35706,"Glutaric acidemia type 3",["Glutaric aciduria type 3","Glutaryl-CoA oxidase deficiency"]],[35708,"Aromatic L-amino acid decarboxylase deficiency",["AADC deficiency"]],[35710,"Glucose-galactose malabsorption",["CGGM","Congenital glucose-galactose malabsorption","GGM","SGLT1 deficiency"]],[35737,"Morning glory disc anomaly",["Ectasic coloboma","Morning glory syndrome"]],[35807,"Malignant germ cell tumor of ovary",["MOGCT","Malignant ovarian germ cell tumor","Ovarian germ cell cancer"]],[35808,"Malignant sex cord stromal tumor of ovary",["Malignant ovarian SCST","Malignant ovarian sex cord-stromal tumor"]],[35858,"Imerslund-Gräsbeck syndrome",["Familial megaloblastic anemia","Selective cobalamin malabsorption with proteinuria"]],[35878,"Hyperinsulinism-hyperammonemia syndrome",["HI/HA syndrome"]],[35889,"Acute opioid intoxication"],[35909,"Combined deficiency of factor V and factor VIII",["F5F8D","FV and FVIII combined deficiency"]],[35981,"Polymicrogyria"],[36204,"Intestinal lymphangiectasia"],[36205,"OBSOLETE: Collagenous colitis"],[36234,"Bacterial toxic-shock syndrome",["Bacterial TSS"]],[36235,"Staphylococcal scarlet fever"],[36236,"Staphylococcal scalded skin syndrome",["Generalized exfoliative disease","SSSS"]],[36237,"Bullous impetigo"],[36238,"Staphylococcal necrotizing pneumonia"],[36258,"Buerger disease",["Thromboangiitis obliterans"]],[36273,"Gastric linitis plastica",["Borrmann gastric cancer type 4","Linitis plastica of the stomach"]],[36297,"NON RARE IN EUROPE: Anorexia nervosa"],[36355,"Bleeding disorder due to P2Y12 defect",["Bleeding disorder due to ADP platelet receptor P2Y12 defect"]],[36367,"Distal deletion 1q syndrome",["Monosomy 1qter","Telomeric deletion 1q","Distal monosomy 1q"]],[36382,"OBSOLETE: Familial cervical artery dissection",["OBSOLETE: Familial CAD","OBSOLETE: Hereditary CAD","OBSOLETE: Hereditary cervical artery dissection"]],[36383,"COL4A1/2-related familial vascular leukoencephalopathy",["COL4A-related brain small vessel disease with hemorrhage","COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome","COL4A1/COL4A2-related familial vascular leukoencephalopathy"]],[36386,"Hereditary sensory and autonomic neuropathy type 1",["Hereditary sensory and autonomic neuropathy type I","HSAN1"]],[36387,"Genetic epilepsy with febrile seizure plus",["GEFS+","Generalized epilepsy with febrile seizures plus"]],[36388,"Paraneoplastic neurologic syndrome",["PNS"]],[36397,"Adiposis dolorosa",["Adiposalgia","Adipose tissue rheumatism","Dercum disease","Lipomatosis dolorosa"]],[36412,"Hypocomplementemic urticarial vasculitis",["Anti-C1q vasculitis","Mac Duffie hypocomplementemic urticarial vasculitis","Mac Duffie syndrome","McDuffie hypocomplementemic urticarial vasculitis","McDuffie syndrome"]],[36414,"OBSOLETE: Brain stem tumor"],[36426,"Stevens-Johnson syndrome",["Dermatostomatitis, Stevens Johnson type"]],[36899,"Myoclonus-dystonia syndrome",["Alcohol-responsive dystonia","Hereditary essential myoclonus","Myoclonic dystonia"]],[36913,"Autoimmune hypoparathyroidism"],[37042,"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome",["Autoimmune enteropathy type 1","IPEX"]],[37202,"Interstitial cystitis",["Bladder pain syndrome","IC/BPS","IC/PBS","Interstitial cystitis/bladder pain syndrome","Interstitial cystitis/painful bladder syndrome","Painful bladder syndrome"]],[37553,"Andersen-Tawil syndrome",["Andersen syndrome","LQT7","Long QT syndrome type 7"]],[37559,"Acquired kinky hair syndrome"],[37612,"Episodic ataxia type 1",["Episodic ataxia with myokymia"]],[37629,"Neonatal neutropenia"],[37748,"Schnitzler syndrome",["Chronic urticaria with gammopathy","Chronic urticaria with macroglobulinemia"]],[38874,"Dihydropyrimidinuria",["Dihydropyrimidinase deficiency"]],[39041,"Omenn syndrome",["Combined immunodeficiency with hypereosinophilia"]],[39044,"OBSOLETE: Uveal melanoma",["OBSOLETE: Melanoma of uvea"]],[39812,"Graft versus host disease",["GvHD"]],[40050,"NON RARE IN EUROPE: Psoriatic arthritis"],[40366,"Acitretin/etretinate embryopathy",["Fetal acitretin/etretinate syndrome","Retinoid embryopathy"]],[40923,"Eales disease",["Idiopathic retinal perivasculitis","Idiopathic retinal vasculitis"]],[41751,"Bietti crystalline dystrophy",["BCD","Bietti crystalline corneoretinal dystrophy","Bietti crystalline retinopathy"]],[41842,"NON RARE IN EUROPE: Fibromyalgia"],[42062,"Iminoglycinuria"],[42642,"PFAPA syndrome",["Marshall syndrome with periodic fever","Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"]],[42665,"Tietz syndrome",["Hypopigmentation-deafness syndrome","Hypopigmentation-hearing loss syndrome"]],[42738,"Severe congenital neutropenia"],[42775,"PHACE syndrome",["PHACES syndrome","Pascual-Castroviejo syndrome type 2"]],[43115,"Hereditary myopathy with lactic acidosis due to ISCU deficiency",["ISCU-related myopathy","Myopathy due to succinate dehydrogenase and aconitase deficiency","Myopathy with exercise intolerance, Swedish type"]],[43116,"Serotonin syndrome",["Serotonergic syndrome","Serotonin storm","Serotonin toxicity","Serotonin toxidrome"]],[43117,"Acute tricyclic antidepressant poisoning"],[43119,"Acute poisoning by drugs with membrane-stabilizing effect"],[43393,"Lambert-Eaton myasthenic syndrome"],[44890,"Gastrointestinal stromal tumor",["GIST","Gastrointestinal stromal sarcoma"]],[45358,"Congenital fibrosis of extraocular muscles",["FEOM"]],[45360,"NON RARE IN EUROPE: Menière disease"],[45448,"Miyoshi myopathy"],[45452,"Idiopathic neonatal atrial flutter"],[45453,"Incessant infant ventricular tachycardia"],[46059,"Lathosterolosis",["Sterol C5-desaturase deficiency"]],[46135,"Primary central nervous system lymphoma",["PCNSL","Primary CNS lymphoma","Primary brain lymphoma"]],[46348,"Paroxysmal extreme pain disorder",["Familial rectal pain"]],[46484,"Oligodendroglial tumor"],[46485,"Superficial pemphigus"],[46486,"Mucous membrane pemphigoid",["Cicatricial pemphigoid","Mucosal pemphigoid","Mucosynechial pemphigoid"]],[46487,"Epidermolysis bullosa acquisita",["Acquired epidermolysis bullosa"]],[46488,"Linear IgA dermatosis"],[46489,"OBSOLETE: Bullous systemic lupus erythematosus",["OBSOLETE: BSLE"]],[46532,"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome",["HPFH-beta-thalassemia syndrome"]],[46627,"Char syndrome",["Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits"]],[46658,"Primordial short stature-microdontia-opalescent and rootless teeth syndrome"],[46724,"Brain arteriovenous malformation, nidus type",["Cerebral arteriovenous malformation"]],[47044,"Hereditary papillary renal cell carcinoma",["HPRC"]],[47045,"Familial cold urticaria",["FCAS","FCU","Familial cold autoinflammatory syndrome"]],[47159,"Proximal renal tubular acidosis",["Renal tubular acidosis type 2","pRTA"]],[47612,"Felty syndrome",["Splenomegaly-neutropenia-rheumatoid arthritis syndrome"]],[48104,"Pyoderma gangrenosum"],[48162,"Lewis-Sumner syndrome",["MADSAM","Multifocal acquired demyelinating sensory and motor neuropathy"]],[48372,"Nodular regenerative hyperplasia of the liver",["Non-cirrhotic nodulation"]],[48377,"Subcorneal pustular dermatosis",["Pustulosis subcornealis","Sneddon-Wilkinson disease","Subcorneal pustular dermatitis"]],[48431,"Congenital cataracts-facial dysmorphism-neuropathy syndrome",["CCFDN"]],[48435,"Postinfectious vasculitis"],[48471,"Lissencephaly"],[48652,"Phelan-McDermid syndrome"],[48686,"Primary effusion lymphoma",["Body cavity-based lymphoma","PEL"]],[48736,"Embryonal carcinoma of the central nervous system",["Embryonal carcinoma of the CNS"]],[48818,"Aceruloplasminemia",["Hereditary ceruloplasmin deficiency"]],[48918,"Focal myositis",["Focal nodular myositis","Inflammatory pseudotumor of skeletal muscle"]],[49041,"IgG4-related retroperitoneal fibrosis",["Idiopathic retroperitoneal fibrosis","Ormond disease"]],[49042,"Dentinogenesis imperfecta",["DGI","DGI without OI","DI","Dentinogenesis imperfecta without osteogenesis imperfecta","Non-syndromic DGI","Non-syndromic dentinogenesis imperfecta","Opalescent teeth without OI","Opalescent teeth without osteogenesis imperfecta"]],[49382,"Achromatopsia",["ACHM","Complete or incomplete color blindness","Pingelapese blindness","Rod monochromacy","Rod monochromatism","Total color blindness"]],[49566,"Acquired purpura fulminans"],[49804,"Lichen amyloidosis",["Amyloid lichen","Lichen amyloidosus"]],[49827,"Thiamine-responsive megaloblastic anemia syndrome",["Rogers syndrome","TRMA","Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness","Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss"]],[50251,"Pleural mesothelioma"],[50809,"Talo-patello-scaphoid osteolysis",["Singh-Williams-McAlister syndrome"]],[50810,"Microlissencephaly-micromelia syndrome",["Basel-Vanagaite-Sirota syndrome"]],[50811,"Lipodystrophy-intellectual disability-deafness syndrome",["Lipodystrophy-intellectual disability-hearing loss syndrome","Rajab-Spranger syndrome"]],[50812,"Zellweger-like syndrome without peroxisomal anomalies",["Ahn-Lerman-Sagie syndrome"]],[50814,"Craniolenticulosutural dysplasia",["Boyadjiev-Jabs syndrome"]],[50815,"Branchiogenic deafness syndrome",["Branchiogenic hearing loss syndrome","Mégarbané-Loiselet syndrome"]],[50816,"Spondylometaphyseal dysplasia with combined immunodeficiency",["Roifman-Melamed syndrome","SPENCDI","Spondyloenchondrodysplasia with immune dysregulation"]],[50817,"Duane anomaly-myopathy-scoliosis syndrome",["Verloes-Deprez syndrome"]],[50838,"NON RARE IN EUROPE: Carpal tunnel syndrome"],[50839,"Cat-scratch disease",["Bartonellosis due to Bartonella henselae infection"]],[50918,"Kikuchi-Fujimoto disease",["Histiocytic necrotizing lymphadenitis","Kikuchi disease"]],[50920,"OBSOLETE: Multiple fibroadenoma of the breast",["OBSOLETE: Mammary polyadenomatosis"]],[50942,"Striate palmoplantar keratoderma",["Keratosis palmoplantaris striata","Keratosis palmoplantaris striata et areata","Keratosis palmoplantaris varians of Wachters"]],[50943,"Keratolytic winter erythema",["Erythrokeratolysis hiemalis","Oudtshoorn disease"]],[50944,"Schöpf-Schulz-Passarge syndrome",["Eccrine tumors-ectodermal dysplasia","Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome","Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome","Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome","SSPS"]],[50945,"Blomstrand lethal chondrodysplasia",["BLC","BOCD","Blomstrand chondrodysplasia","Blomstrand osteochondrodysplasia","Chondrodysplasia, Blomstrand type"]],[51013,"OBSOLETE: Melanoma-pancreatic cancer syndrome"],[51083,"Congenital short QT syndrome",["Congenital SQTS"]],[51084,"Torsade-de-pointes syndrome with short coupling interval"],[51188,"Ethylmalonic encephalopathy"],[51208,"Formiminoglutamic aciduria",["FTCD deficiency","Formiminotransferase cyclodeaminase deficiency","Glutamate formiminotransferase deficiency"]],[51577,"Cobblestone lissencephaly",["Lissencephaly type 2"]],[51608,"Generalized arterial calcification of infancy",["Idiopathic infantile arterial calcification","Idiopathic obliterative arteriopathy","Infantile arteriosclerosis","Occlusive infantile arteriopathy"]],[51636,"WHIM syndrome",["WILM","Warts-hypogammaglobulinemia-infections-myelokathexis syndrome","Warts-infections-leukopenia-myelokatexis syndrome"]],[51890,"Anterior cutaneous nerve entrapment syndrome",["ACNES","Intercostal nerve syndrome","Rectus abdominis syndrome"]],[52022,"Potocki-Shaffer syndrome",["11p11.2 deletion","Proximal 11p deletion syndrome"]],[52047,"Braddock syndrome",["Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency"]],[52054,"Craniosynostosis-intracranial calcifications syndrome",["Longman-Tolmie syndrome"]],[52055,"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",["Graham-Cox syndrome"]],[52056,"Ulnar/fibula ray defect-brachydactyly syndrome",["Morava-Mehes syndrome"]],[52183,"Premature chromosome condensation with microcephaly and intellectual disability"],[52368,"Mohr-Tranebjaerg syndrome",["Hearing loss-dystonia-optic neuronopathy syndrome","DDON syndrome","Deafness-dystonia-optic neuronopathy syndrome"]],[52416,"Mantle cell lymphoma",["LCM","MCL","Mantle zone lymphoma"]],[52417,"MALT lymphoma",["Extranodal marginal zone B-cell lymphoma","MALToma","Mucosa-associated lymphatic tissue lymphoma","Mucosa-associated lymphoid tissue lymphoma"]],[52427,"Retinitis punctata albescens",["RPA"]],[52428,"Congenital muscular dystrophy type 1C",["CMD1C","MDC1C"]],[52429,"Branchiootic syndrome"],[52430,"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia",["IBMPFD","Limb-girdle muscular dystrophy with Paget disease of bone","Pagetoid amyotrophic lateral sclerosis","Pagetoid neuroskeletal syndrome"]],[52503,"X-linked creatine transporter deficiency",["Creatine transporter deficiency","SLC6A8 deficiency"]],[52530,"Pseudo-von Willebrand disease",["PT-VWD","Platelet type-von Willebrand disease","Pseudo-von Willebrand disease type 2B"]],[52662,"Rare teratologic disease",["Acquired embryofetopathy"]],[52688,"Myelodysplastic syndrome"],[52759,"Vasculitis",["Systemic vasculitis"]],[52901,"Isolated follicle stimulating hormone deficiency",["Isolated FSH deficiency"]],[52994,"Orbital leiomyoma"],[53035,"Caroli disease"],[53271,"Muenke syndrome"],[53296,"Familial cutaneous collagenoma"],[53347,"Brody myopathy"],[53351,"X-linked dystonia-parkinsonism",["DYT3","Lubag","Lubag syndrome","XDP"]],[53372,"Hereditary geniospasm",["Hereditary chin myoclonus","Hereditary chin-trembling","Familial trembling of the chin"]],[53540,"Goldmann-Favre syndrome",["ESCS","Enhanced S-cone syndrome","Retinoschisis with early nyctalopia"]],[53583,"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity",["DYT9","Episodic choreoathetosis/spasticity"]],[53689,"Congenital chloride diarrhea"],[53690,"Congenital lactase deficiency"],[53691,"Congenital cornea plana"],[53693,"GRACILE syndrome",["Fellman disease","Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"]],[53696,"Arthrogryposis-anterior horn cell disease syndrome",["AAHD","Vuopala disease"]],[53697,"Gnathodiaphyseal dysplasia",["GDD"]],[53698,"Myosin storage myopathy",["Hyaline body myopathy"]],[53715,"Familial tumoral calcinosis"],[53719,"OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2",["OBSOLETE: Bonnet-Dechaume-Blanc syndrome","OBSOLETE: CAMS2","OBSOLETE: Wyburn-Mason syndrome"]],[53721,"Spinal arteriovenous metameric syndrome",["Cobb syndrome","Cutaneomeningospinal angiomatosis","SAMS 1-31"]],[53739,"Distal hereditary motor neuropathy",["Distal spinal muscular atrophy","dHMN","dSMA"]],[54028,"Plummer-Vinson syndrome",["Kelly-Paterson syndrome","Sideropenic dysphagia"]],[54057,"Thrombotic thrombocytopenic purpura",["Moschcowitz disease","TTP"]],[54238,"Myotonic dystrophy type 3"],[54247,"Posterior cortical atrophy",["Benson syndrome","Biparietal Alzheimer disease","PCA"]],[54251,"Aseptic abscess syndrome",["Aseptic abscesses syndrome","Aseptic systemic abscesses","Corticosteroid-sensitive aseptic abscess syndrome","Disseminated aseptic abscesses"]],[54260,"Left ventricular noncompaction",["Spongy myocardium","LVNC","Left ventricular hypertrabeculation"]],[54272,"Hepatocellular adenoma"],[54368,"Sarcocystosis",["Sarcosporidiosis"]],[54370,"Primary membranoproliferative glomerulonephritis",["Mesangiocapillary glomerulonephritis","Primary MPGN"]],[54595,"Craniopharyngioma"],[55595,"TNP03-related limb-girdle muscular dystrophy D2",["Autosomal dominant limb-girdle muscular dystrophy type 1F","LGMD type 1F","LGMD1F","Limb-girdle muscular dystrophy type 1F"]],[55596,"HNRNPDL-related limb-girdle muscular dystrophy D3",["Autosomal dominant limb-girdle muscular dystrophy type 1G","HNRNPDL-related LGMD D3","LGMD type 1G","LGMD1G","Limb-girdle muscular dystrophy type 1G"]],[55654,"Hypotrichosis simplex",["Hereditary hypotrichosis simplex"]],[55655,"Pneumococcal meningitis"],[55880,"Chondrosarcoma"],[55881,"Adamantinoma",["Adamantinoma of long bones"]],[56044,"Carcinoma of gallbladder and extrahepatic biliary tract",["Carcinoma of gallbladder and EBT"]],[56304,"Atelosteogenesis type II",["AO2","AOII","Atelosteogenesis type 2","De la Chapelle dysplasia","Neonatal osseous dysplasia type 1"]],[56305,"Atelosteogenesis type III",["AO3","AOIII","Atelosteogenesis type 3"]],[56425,"Cold agglutinin disease",["CAD","CAS","Chronic cold agglutinin disease","Cold agglutinin syndrome"]],[56965,"Progressive bulbar paralysis of childhood",["Fazio-Londe disease","Progressive bulbar palsy of childhood"]],[56970,"Human prion disease",["TSE","Transmissible spongiform encephalopathy"]],[57145,"SUNCT syndrome",["Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing"]],[57146,"Rare hepatic disease"],[57194,"OBSOLETE: Aseptic osteitis"],[57196,"Medial condensing osteitis of the clavicle",["Osteitis condensans of the clavicle"]],[57777,"NON RARE IN EUROPE: Cirrhotic cardiomyopathy"],[57782,"Mazabraud syndrome",["Myxoma with fibrous dysplasia"]],[58017,"Classic hairy cell leukemia",["HCL-C","Leukemic reticuloendotheliosis"]],[58040,"Osteoblastoma"],[58208,"NON RARE IN EUROPE: Pericarditis"],[58220,"OBSOLETE: Microscopic colitis"],[59135,"Laing distal myopathy",["Distal myopathy type 1","MPD1"]],[59181,"Sorsby fundus dystrophy",["SMD","Sorsby macular dystrophy","Sorsby pseudoinflammatory fundus dystrophy"]],[59298,"Schilder disease",["Myelinoclastic diffuse sclerosis"]],[59303,"Neonatal ichthyosis-sclerosing cholangitis syndrome",["IHSC","Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome","NISCH syndrome"]],[59305,"Gestational trophoblastic neoplasm",["GTN"]],[59306,"McLeod neuroacanthocytosis syndrome",["MLS","X-linked McLeod syndrome"]],[59315,"Isolated rhombencephalosynapsis"],[60014,"Argyria",["Silver staining"]],[60015,"Enlarged parietal foramina",["Catlin marks","Fenestrae parietales symmetricae","Foramina parietalia permagna","Hereditary cranium bifidum","Symmetric parietal foramina"]],[60025,"Pulmonary alveolar microlithiasis"],[60026,"Pulmonary nodular lymphoid hyperplasia",["Pulmonary pseudolymphoma"]],[60030,"Loeys-Dietz syndrome",["Aortic aneurysm syndrome due to TGF-beta receptors anomalies"]],[60032,"Recurrent respiratory papillomatosis"],[60033,"Idiopathic bronchiectasis"],[60039,"Pudendal nerve entrapment syndrome",["Alcock syndrome","Pudendal algia","Pudendal neuralgia","Pudendal neuralgia by pudendal nerve entrapment","Pudendal neuropathic pain syndrome","Pudendal neuropathy","Pudendalgia"]],[60040,"Megalencephaly-capillary malformation-polymicrogyria syndrome",["MCAP","MCM","MCMTC","Macrocephaly-capillary malformation syndrome","Macrocephaly-cutis marmorata telangiectatica congenita syndrome","Megalencephaly-capillary malformation syndrome","Megalencephaly-cutis marmorata telangiectatica congenita syndrome"]],[60041,"Congenital heart block",["Congenital atrioventricular block"]],[63259,"Iniencephaly"],[63260,"Craniorachischisis"],[63261,"HERNS syndrome",["Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome"]],[63269,"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis",["Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome"]],[63273,"FLNC-related handgrip and calf weakness-distal myopathy",["Distal ABD-filaminopathy"]],[63275,"Pemphigoid gestationis",["Gestational pemphigoid"]],[63440,"OBSOLETE: Isolated oxycephaly",["OBSOLETE: Acrocephaly","OBSOLETE: Hypsicephaly","OBSOLETE: Hypsocephaly","OBSOLETE: Pyrgocephaly","OBSOLETE: Turricephaly"]],[63442,"Angel-shaped phalango-epiphyseal dysplasia",["ASPED"]],[63443,"Rare epithelial tumor of stomach",["Rare gastric epithelial tumor"]],[63446,"Acrocapitofemoral dysplasia"],[63454,"Pattern dystrophy",["Patterned dystrophy of the retinal pigment epithelium"]],[63455,"Paraneoplastic pemphigus"],[63862,"Schisis association"],[63999,"IgG4-related mediastinitis",["Fibrosing mediastinitis","Mediastinal fibrosis","Sclerosing mediastinitis"]],[64280,"Childhood absence epilepsy",["Pyknolepsy"]],[64542,"Acrofacial dysostosis, Kennedy-Teebi type",["Kennedy-Teebi syndrome"]],[64545,"Benign idiopathic neonatal seizures",["BINS","Benign nonfamilial neonatal seizures"]],[64686,"Tolosa-Hunt syndrome",["Painful ophthalmoplegia"]],[64692,"Bartonella bacilliformis infection",["Bartonellosis due to infection with Bartonella bacilliformis","Carrion disease"]],[64694,"Trench fever",["Bartonellosis due to Bartonella quintana infection"]],[64720,"Leiomyosarcoma"],[64722,"Granulomatous mastitis",["IGM","Idiopathic granulomatous mastitis"]],[64734,"Iridocorneal endothelial syndrome",["ICE syndrome"]],[64738,"NON RARE IN EUROPE: Non rare thrombophilia"],[64739,"Ovarian hyperstimulation syndrome",["OHSS"]],[64740,"NON RARE IN EUROPE: Recurrent acute pancreatitis"],[64741,"Pulmonary blastoma",["Pneumoblastoma"]],[64742,"Pleuropulmonary blastoma"],[64743,"Hepatoportal sclerosis",["Obliterative portal venopathy"]],[64744,"IgG4-related thyroid disease",["Riedel disease","Riedel thyroiditis"]],[64745,"Pruritic urticarial papules and plaques of pregnancy",["PUPPP","Polymorphic eruption of pregnancy"]],[64746,"Autosomal dominant Charcot-Marie-Tooth disease type 2",["Autosomal dominant axonal Charcot-Marie-Tooth disease","CMT2","Hereditary motor and sensory neuropathy type 2"]],[64747,"X-linked Charcot-Marie-Tooth disease",["CMTX","X-linked hereditary motor and sensory neuropathy"]],[64748,"Dejerine-Sottas syndrome",["Charcot-Marie-Tooth disease type 3","HMSN 3","HMSN III","Hereditary motor and sensory neuropathy type 3","Hereditary motor and sensory neuropathy type III"]],[64749,"Charcot-Marie-Tooth disease type 4",["AR-CMT1","Autosomal recessive demyelinating Charcot-Marie-Tooth","CMT4"]],[64751,"Hereditary motor and sensory neuropathy type 5",["Charcot-Marie-Tooth disease-pyramidal features syndrome","HMSN 5","HMSN V","Hereditary motor and sensory neuropathy type V"]],[64752,"Hereditary sensory and autonomic neuropathy type 5",["CIP","Congenital insensitivity to pain and thermal analgesia","HSAN5","Hereditary sensory and autonomic neuropathy type V"]],[64753,"Spinocerebellar ataxia with axonal neuropathy type 2",["AOA2","Ataxia-oculomotor apraxia type 2","SCAN 2","SCAR1"]],[64754,"Nevus comedonicus syndrome"],[64755,"Becker nevus syndrome",["Becker melanosis","Becker naevus syndrome","Pigmentary hairy epidermal nevus","Pigmented hairy epidermal naevus","Pigmented hairy epidermal nevus"]],[65250,"NON RARE IN EUROPE: Perineural cyst",["NON RARE IN EUROPE: Tarlov cyst"]],[65279,"OBSOLETE: Lymphocytic colitis"],[65282,"Carvajal syndrome",["KWWH type II","Keratoderma with woolly hair type II","Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome"]],[65283,"Timothy syndrome",["LQT8","Long QT syndrome type 8","Long QT syndrome-syndactyly syndrome"]],[65284,"Biotin-thiamine-responsive basal ganglia disease",["BBGD","BTBGD","Biotin-responsive basal ganglia disease"]],[65285,"Lhermitte-Duclos disease",["Dysplastic gangliocytoma of the cerebellum","LDD"]],[65286,"3q29 microdeletion syndrome",["3q subtelomere deletion syndrome","3qter deletion","Del(3)(q29)","Monosomy 3q29","Monosomy 3qter"]],[65287,"Beta-ureidopropionase deficiency",["Beta-alanine synthase deficiency"]],[65288,"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome",["Pancreatic and cerebellar agenesis"]],[65681,"Vaginal atresia"],[65682,"Benign recurrent intrahepatic cholestasis",["BRIC","Summerskill-Walshe-Tygstrup syndrome"]],[65683,"Isolated focal cortical dysplasia",["Epilepsy due to FCD"]],[65684,"Monomelic amyotrophy",["Benign focal amyotrophy","Hirayama disease","JMADUE","Juvenile muscular atrophy of distal upper extremity","Juvenile muscular atrophy of the distal upper limb"]],[65720,"Arthrogryposis-severe scoliosis syndrome",["Distal arthrogryposis type 4","Distal arthrogryposis type IID"]],[65743,"Autosomal dominant multiple pterygium syndrome",["Distal arthrogryposis type 8"]],[65748,"Multiple self-healing squamous epithelioma",["Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type","Ferguson-Smith disease","MSSE","Multiple keratoacanthoma, Ferguson-Smith type","Self-healing squamous epithelioma type 1"]],[65753,"Charcot-Marie-Tooth disease type 1",["Autosomal dominant demyelinating Charcot-Marie-Tooth disease","CMT1","Charcot-Marie-Tooth neuropathy type 1","Hereditary motor and sensory neuropathy type 1"]],[65759,"Carpenter syndrome",["ACPS2","Acrocephalopolysyndactyly type 2"]],[65798,"Goodman syndrome",["ACPS4","Acrocephalopolysyndactyly type 4"]],[66518,"Short fifth metacarpals-insulin resistance syndrome"],[66529,"Tako-Tsubo cardiomyopathy",["Ampulla cardiomyopathy","Apical ballooning syndrome","Ballooning cardiomyopathy","Broken heart syndrome","Stress cardiomyopathy","Tako-Tsubo syndrome","Takotsubo cardiomyopathy","Takotsubo syndrome","Transient left ventricular apical ballooning syndrome"]],[66624,"PANDAS",["Pediatric autoimmune disorders associated with Streptococcus infections","Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections"]],[66625,"Cerebrooculonasal syndrome"],[66627,"Tenosynovial giant cell tumor",["Diffuse-type GCT","Diffuse-type giant cell tumor","TGCT","TSGCT"]],[66628,"Obesity due to congenital leptin deficiency"],[66629,"Goldberg-Shprintzen megacolon syndrome",["GOSHS","Megacolon-microcephaly syndrome"]],[66630,"Congenital pseudoarthrosis of the clavicle",["Congenital pseudarthrosis of the clavicle"]],[66631,"CEDNIK syndrome",["Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome"]],[66633,"Sensorineural hearing loss-early graying-essential tremor syndrome",["Sensorineural deafness-early graying-essential tremor syndrome"]],[66634,"Dilated cardiomyopathy with ataxia",["3-methylglutaconic aciduria type 5","DCMA syndrome","MGA5"]],[66637,"Diaphanospondylodysostosis",["DSD"]],[66646,"Cutaneous mastocytosis"],[66661,"Mast cell sarcoma"],[66662,"Extracutaneous mastocytoma"],[67036,"Autosomal dominant optic atrophy and cataract",["Autosomal dominant optic atrophy type 3","OPA3, autosomal dominant"]],[67037,"Squamous cell carcinoma of head and neck",["HNSCC","Head and neck squamous cell carcinoma"]],[67038,"B-cell chronic lymphocytic leukemia",["B-CLL","B-cell chronic lymphoid leukemia","CLL","CLL/SLL","Chronic lymphocytic leukemia","Small lymphocytic lymphoma"]],[67039,"Segmental odontomaxillary dysplasia"],[67041,"Hyaluronidase deficiency",["MPS9","MPSIX","Mucopolysaccharidosis type 9","Mucopolysaccharidosis type IX"]],[67042,"Late-onset retinal degeneration",["Autosomal dominant late-onset retinal degeneration","LORD"]],[67043,"Amoebic keratitis"],[67044,"Thrombocytopenia with congenital dyserythropoietic anemia",["Congenital dyserythropoietic anemia with thombocytopenia","X-linked congenital dyserythropoietic anemia with thrombocytopenia","XDAT"]],[67045,"X-linked intellectual disability with isolated growth hormone deficiency",["MRGH"]],[67046,"3-methylglutaconic aciduria type 1",["3-methylglutaconyl-CoA hydratase deficiency","3MG-CoA hydratase deficiency","MGA1"]],[67047,"3-methylglutaconic aciduria type 3",["Autosomal recessive optic atrophy plus syndrome","Autosomal recessive optic atrophy type 3","Costeff optic atrophy syndrome","Costeff syndrome","Infantile optic atrophy with chorea and spastic paraplegia","MGA3"]],[67048,"3-methylglutaconic aciduria type 4",["MGA4"]],[68329,"Rare maxillo-facial surgical disease",["Rare maxillofacial anomaly"]],[68334,"Rare hemorrhagic disorder due to a constitutional coagulation factors defect",["Rare bleeding disorder due to a constitutional coagulation factors defect","Rare coagulopathy due to a constitutional coagulation factors defect"]],[68335,"Rare chromosomal anomaly"],[68336,"Rare genetic tumor"],[68341,"Multiple congenital anomalies/dysmorphic syndrome"],[68346,"Rare genetic skin disease",["Rare genodermatosis"]],[68347,"Tumor of hematopoietic and lymphoid tissues"],[68354,"Rare sleep disorder"],[68356,"Leukodystrophy"],[68361,"Rare deafness",["Rare hearing loss"]],[68362,"Rare vascular disease"],[68363,"Rare dystonia",["Rare dystonic disorder"]],[68364,"Hemoglobinopathy"],[68366,"Lysosomal disease"],[68367,"Rare inborn error of metabolism",["Rare metabolic disease"]],[68373,"Peroxisomal disease"],[68378,"Congenital limb malformation"],[68380,"Mitochondrial disease"],[68381,"Neuromuscular disease"],[68383,"Rare constitutional aplastic anemia"],[68385,"Neurometabolic disease"],[68388,"OBSOLETE: Neurofibromatosis"],[68402,"Rare parkinsonian disorder",["Rare hypokinetic movement disorder"]],[68411,"Rare bone tumor"],[68415,"Rare parathyroid disease and phosphocalcic metabolism anomaly"],[68416,"Rare infectious disease"],[68419,"Rare vascular anomaly"],[69028,"Dysostosis with brachydactyly"],[69061,"Idiopathic steroid-sensitive nephrotic syndrome"],[69063,"Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization",["Alloimmune neonatal renal disease","FMAIG","Fetomaternal alloimmunization with antenatal glomerulopathies","Neonatal glomerulopathy due to neprilysin alloimmunization","Neonatal membranous glomerulopathy with maternal NEP deficiency","Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency"]],[69076,"Familial renal glucosuria",["Familial renal glycosuria","SGLT2 deficiency"]],[69077,"Rhabdoid tumor",["Malignant rhabdoid tumor"]],[69078,"Liposarcoma"],[69082,"Odonto-tricho-ungual-digito-palmar syndrome",["Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type","OTUDP syndrome"]],[69083,"Ectodermal dysplasia with natal teeth, Turnpenny type"],[69084,"Pure hair and nail ectodermal dysplasia",["HNED","Hair-nail ectodermal dysplasia","PHNED"]],[69085,"Limb-mammary syndrome",["LMS"]],[69087,"Naegeli-Franceschetti-Jadassohn syndrome",["NFJ syndrome","Naegeli syndrome"]],[69088,"Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome",["OL-HED-ID"]],[69125,"Anonychia with flexural pigmentation"],[69126,"PAPA syndrome",["FRA","Familial recurrent arthritis","Pyogenic arthritis-pyoderma gangrenosum-acne syndrome"]],[69127,"NON RARE IN EUROPE: Immunoglobulin A deficiency",["NON RARE IN EUROPE: IgA deficiency","NON RARE IN EUROPE: IgAD","NON RARE IN EUROPE: SIgAD","NON RARE IN EUROPE: Selective immunoglobulin A deficiency"]],[69663,"Low phospholipid-associated cholelithiasis",["ABCB4-related cholelithiasis","LPAC"]],[69665,"Intrahepatic cholestasis of pregnancy",["Gravidic intrahepatic cholestasis","Pregnancy-related cholestasis","Recurrent intrahepatic cholestasis of pregnancy"]],[69723,"Tyrosinemia type 3",["Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency","Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency","Tyrosinemia due to HPD deficiency","Tyrosinemia type III"]],[69735,"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome",["Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome"]],[69736,"Bilateral acute depigmentation of the iris",["BADI"]],[69737,"Bosley-Salih-Alorainy syndrome"],[69739,"Athabaskan brainstem dysgenesis syndrome",["ABSD","Athabascan brainstem dysgenesis syndrome","Navajo brainstem syndrome"]],[69744,"Circumscribed palmoplantar hypokeratosis",["Circumscribed acral hypokeratosis"]],[69745,"Warty dyskeratoma",["Follicular dyskeratoma"]],[70470,"OBSOLETE: Hyperlipoproteinemia type 5",["OBSOLETE: HLP type 5","OBSOLETE: Major hyperlipidemia"]],[70472,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",["COX deficiency, French-Canadian type","Cytochrome C oxidase deficiency, French-Canadian type","Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type","Leigh syndrome, French-Canadian type","Leigh syndrome, Saguenay-Lac-Saint-Jean type","SLSJ-COX deficiency"]],[70474,"Leigh syndrome with cardiomyopathy",["Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency","Cardiomyopathy with myopathy due to COX deficiency","Leigh disease with myopathy"]],[70475,"Radiation proctitis"],[70476,"Vernal keratoconjunctivitis",["Spring catarrh"]],[70482,"Carcinoma of esophagus",["Esophageal carcinoma"]],[70567,"Cholangiocarcinoma",["Bile duct cancer","CCA"]],[70568,"Post-transplant lymphoproliferative disease",["PTLD"]],[70573,"Small cell lung cancer",["SCLC"]],[70578,"Adult acute respiratory distress syndrome",["Adult ARDS"]],[70587,"Infant acute respiratory distress syndrome",["Hyaline membrane disease","Infant ARDS","Infant respiratory distress syndrome","Neonatal respiratory distress syndrome"]],[70588,"Meconium aspiration syndrome"],[70589,"Bronchopulmonary dysplasia",["BPD"]],[70590,"Infantile apnea",["Apnea in full-term infants","Apnea of infancy"]],[70591,"Chronic thromboembolic pulmonary hypertension",["CTEPH"]],[70592,"Transient predisposition to invasive pyogenic bacterial infection"],[70593,"Immunodeficiency due to selective anti-polysaccharide antibody deficiency",["SPAD","Selective anti-polysaccharide antibody deficiency","Specific anti-polysaccharide antibody deficiency","Specific polysaccharide antibody deficiency"]],[70594,"Dopa-responsive dystonia due to sepiapterin reductase deficiency",["Autosomal recessive sepiapterin reductase-deficient DRD","DRD due to SRD","SPR deficiency","Sepiapterin reductase deficiency"]],[70595,"Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome",["SANDO"]],[70596,"Congenital Epstein-Barr virus infection",["Antenatal EBV infection","Antenatal Epstein-Barr virus infection","Congenital EBV infection","Mother-to-child transmission of Epstein-Barr virus infection"]],[71198,"Rare pulmonary hypertension"],[71202,"Rare hemorrhagic disorder due to a constitutional platelet anomaly",["Rare bleeding disorder due to a constitutional platelet anomaly","Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia","Rare coagulopathy due to a constitutional platelet anomaly","Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia","Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia"]],[71203,"Autoimmune thrombocytopenia"],[71209,"Rare soft tissue tumor",["Rare mesenchymal tumor"]],[71211,"Neuromyelitis optica spectrum disorder",["Devic disease","NMOSD"]],[71212,"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",["Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency","Hyperinsulinism due to SCHAD deficiency","Hyperinsulinism due to glutamodehydrogenase deficiency","SCHAD deficiency"]],[71213,"Retinal cavernous hemangioma",["Cavernous hemangioma of the retina","RCH"]],[71267,"Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome",["Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome"]],[71269,"OBSOLETE: Benign exophthalmos syndrome",["OBSOLETE: BES"]],[71270,"OBSOLETE: Auriculoocular anomalies-cleft lip syndrome"],[71271,"Split hand-split foot-deafness syndrome",["Split hand-split foot-hearing loss syndrome"]],[71272,"Sandifer syndrome"],[71273,"Renal nutcracker syndrome",["Left renal vein entrapment syndrome","RNS"]],[71274,"Disseminated peritoneal leiomyomatosis",["DPL","Diffuse peritoneal leiomyomatosis","LPD","Leiomyomatosis peritonealis disseminate"]],[71275,"Rh deficiency syndrome",["Rh-null syndrome"]],[71276,"Silent sinus syndrome",["CMA grade 3","Chronic maxillary atelectasis grade III","Imploding antrum syndrome"]],[71277,"Classic glucose transporter type 1 deficiency syndrome",["Classic GLUT1 deficiency syndrome","Classic GLUT1-DS","De Vivo disease","Encephalopathy due to GLUT1 deficiency"]],[71278,"Congenital brain dysgenesis due to glutamine synthetase deficiency",["Inherited GS deficiency","Inherited glutamine synthetase deficiency"]],[71279,"CANOMAD syndrome",["CANDA syndrome","Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome","Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies"]],[71281,"Rare central nervous system and retinal vascular disease"],[71289,"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome",["ATRUS syndrome"]],[71290,"Familial platelet disorder with associated myeloid malignancy",["FPD/AML","FPDMM","FPS/AML","Familial platelet disorder with predisposition to acute myelogenous leukemia","Familial platelet disorder with predisposition to myeloid malignancy","Familial platelet disorder with propensity to acute myeloid leukemia","Familial thrombocytopenia with propensity to acute myelogenous leukemia","RUNX1 familial platelet disorder","RUNX1 familial platelet disorder with associated myeloid malignancies","RUNX1-FPD","RUNX1-FPDMM"]],[71291,"Hereditary vascular retinopathy",["HVR","Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome"]],[71493,"Familial thrombocytosis",["Familial thrombocythemia","Hereditary thrombocythemia"]],[71505,"Cancer-associated retinopathy",["CAR syndrome","Paraneoplastic retinopathy"]],[71516,"OBSOLETE: Mixed dystonia"],[71517,"Rapid-onset dystonia-parkinsonism",["DYT12","Dystonia 12"]],[71518,"Benign paroxysmal torticollis of infancy"],[71519,"Psychogenic movement disorders",["Psychogenic dystonia"]],[71526,"Obesity due to pro-opiomelanocortin deficiency",["POMC deficiency"]],[71528,"Obesity due to prohormone convertase I deficiency",["PCI deficiency"]],[71529,"Obesity due to melanocortin 4 receptor deficiency",["MC4R deficiency"]],[71859,"Rare genetic neurological disorder"],[71862,"OBSOLETE: Inherited retinal disorder",["OBSOLETE: Retinal dystrophy"]],[71864,"Muscular channelopathy"],[73014,"Intractable diarrhea of infancy",["IDI"]],[73217,"Müllerian aplasia",["Aplasia of the Müllerian ducts","Müllerian duct failure"]],[73220,"X-linked intellectual disability-hypotonic face syndrome"],[73223,"Global developmental delay-osteopenia-ectodermal defect syndrome"],[73224,"Kidney tubulopathy-dilated cardiomyopathy syndrome"],[73229,"HANAC syndrome",["Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome","Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome"]],[73230,"Ossification anomalies-psychomotor developmental delay syndrome"],[73245,"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"],[73246,"Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome"],[73247,"NON RARE IN EUROPE: Eosinophilic esophagitis",["NON RARE IN EUROPE: EoE"]],[73256,"Central neurocytoma"],[73260,"Paracoccidioidomycosis"],[73263,"Zygomycosis",["Mucormycosis"]],[73267,"Non-24-hour sleep-wake syndrome",["Hypernychthemeral syndrome"]],[73271,"Bleeding diathesis due to a collagen receptor defect"],[73272,"Growth delay due to insulin-like growth factor type 1 deficiency",["Growth delay-deafness-intellectual disability syndrome","Growth delay-hearing loss-intellectual disability syndrome","IGF-1 deficiency","Primary insulin-like growth factor deficiency"]],[73273,"Growth delay due to insulin-like growth factor I resistance",["Resistance to IGF-1"]],[73274,"OBSOLETE: Acquired hemophilia"],[73423,"Acute ackee fruit intoxication",["Acute intoxication by Blighia sapida","Jamaican vomiting sickness","Jamaican vomiting syndrome"]],[75110,"Myiasis"],[75233,"Wolman disease"],[75234,"Cholesteryl ester storage disease",["Cholesterol ester storage disease"]],[75249,"Familial isolated restrictive cardiomyopathy",["Familial or idiopathic restrictive cardiomyopathy"]],[75325,"Osteosclerosis-ichthyosis-premature ovarian failure syndrome",["Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome"]],[75326,"Familial isolated retinal arteriolar tortuosity",["Familial retinal arteriolar tortuosity","Retinal arteriolar tortuosity","Retinal hemorrhage with vascular tortuosity","Tortuosity of retinal arteries"]],[75327,"North Carolina macular dystrophy",["CAPE dystrophy","CAPED","Central areolar pigment epithelial dystrophy","Central retinal pigment epithelial dystrophy","MCDR1","NCMD","North Carolina macular dystrophy, retinal 1","Progressive foveal dystrophy"]],[75373,"Progressive bifocal chorioretinal atrophy",["CRAPB","PBCRA"]],[75374,"Bradyopsia",["PERRS","Prolonged electroretinal response suppression"]],[75376,"Autosomal dominant drusen",["ADD","DHRD","Dominant drusen","Dominant radial drusen","Doyne honeycomb retinal dystrophy","Familial drusen","Malattia leventinese"]],[75377,"Central areolar choroidal dystrophy",["Areolar atrophy of the macula","CACD","Central areolar choroidal sclerosis"]],[75378,"Oligocone trichromacy",["Oligocone syndrome"]],[75381,"Cystoid macular dystrophy",["Autosomal dominant cystoid macular edema","DCMD","Familial macular edema"]],[75382,"Oguchi disease",["Congenital stationary night blindness, Oguchi type","Oguchi syndrome"]],[75389,"Brain malformation-congenital heart disease-postaxial polydactyly syndrome",["Goossens-Devriendt syndrome"]],[75391,"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",["Primary immunodeficiency due to MCM4 deficiency"]],[75392,"Periodontal Ehlers-Danlos syndrome",["EDS VIII","Ehlers-Danlos syndrome type 8","Ehlers-Danlos syndrome, periodontitis type","Periodontal EDS","pEDS"]],[75496,"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome",["B4GALT7-related spondylodysplastic EDS","EDS progeroid type 1","EDS with short stature and limb anomalies","spEDS-B4GALT7"]],[75497,"X-linked Ehlers-Danlos syndrome",["X-linked EDS","EDS V","Ehlers-Danlos syndrome type 5"]],[75501,"OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type",["OBSOLETE: EDS X","OBSOLETE: Ehlers-Danlos syndrome type 10","OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality","OBSOLETE: Ehlers-Danlos syndrome, fibronectin-deficient"]],[75508,"Angioosteohypotrophic syndrome",["Phlebectatic osteohypoplastic angiodysplasia","Servelle-Martorell syndrome"]],[75563,"X-linked sideroblastic anemia",["XLSA"]],[75564,"Acquired idiopathic sideroblastic anemia",["AISA","Primary acquired sideroblastic anemia","RARS","Refractory anemia with ringed sideroblasts"]],[75565,"Tropical endomyocardial fibrosis",["Davies disease","TEMF"]],[75566,"Loeffler endocarditis",["Eosinophilic endocarditis"]],[75567,"Primary progressive freezing gait",["PPFG"]],[75789,"SIBIDS syndrome",["Trichothiodystrophy-osteosclerosis syndrome"]],[75790,"Pollitt syndrome",["Trichorrhexis nodosa syndrome","Trichothiodystrophy type C","Trichothiodystrophy-neurocutaneous syndrome syndrome"]],[75840,"Ullrich congenital muscular dystrophy",["UCMD","Ullrich scleroatonic muscular dystrophy"]],[75857,"6q terminal deletion syndrome"],[75858,"MORM syndrome",["Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome"]],[77240,"Primary lymphedema"],[77241,"OBSOLETE: Lymphedema praecox"],[77242,"OBSOLETE: Lymphedema tarda"],[77243,"NON RARE IN EUROPE: Lipedema"],[77258,"Trichorhinophalangeal syndrome type 1"],[77259,"Gaucher disease type 1",["Non-cerebral juvenile Gaucher disease"]],[77260,"Gaucher disease type 2",["Acute neuronopathic Gaucher disease","Infantile cerebral Gaucher disease"]],[77261,"Gaucher disease type 3",["Cerebral juvenile and adult form of Gaucher disease","Chronic neuronopathic Gaucher disease","Gaucher disease, subacute neuronopathic type"]],[77292,"Infantile neurovisceral acid sphingomyelinase deficiency",["Infantile neurovisceral ASMD","NPD-A","Niemann-Pick disease type A"]],[77293,"Chronic visceral acid sphingomyelinase deficiency",["Chronic visceral ASMD","NPD-B","Niemann-Pick disease type B"]],[77295,"Odontoleukodystrophy",["Dentoleukoencephalopathy","Leukodystrophy with oligodontia"]],[77296,"Morgagni-Stewart-Morel syndrome",["Hyperostosis frontalis interna"]],[77297,"Majeed syndrome",["Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome"]],[77298,"Anophthalmia/microphthalmia-esophageal atresia syndrome",["MCOPS3","Syndromic microphthalmia type 3"]],[77299,"Microphthalmia-brain atrophy syndrome",["MCOPS10","MOBA syndrome","Syndromic microphthalmia type 10"]],[77300,"Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome"],[77301,"Monosomy 9q22.3 syndrome",["Microdeletion 9q22.3"]],[77302,"Oculo-oto-facial dysplasia"],[77303,"OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect",["OBSOLETE: CVID due to an intrinsic B cell defect"]],[77304,"OBSOLETE: Not NOTCH3-related small vessel disease of the brain"],[77828,"Genetic obesity"],[77830,"Rare genetic odontologic disease"],[79022,"Simpson-Golabi-Behmel syndrome type 2",["Lethal variant of Simpson-Golabi-Behmel syndrome","SGBS2"]],[79062,"Disorder of amino acid and other organic acid metabolism"],[79076,"Juvenile polyposis of infancy",["Infantile juvenile polyposis syndrome"]],[79078,"IgG4-related dacryoadenitis and sialadenitis",["Chronic dacryoadenitis and sialadenitis","Mikulicz disease"]],[79083,"PPARG-related familial partial lipodystrophy",["FPLD3","Familial partial lipodystrophy type 3","PPARG-related FPLD"]],[79084,"Familial partial lipodystrophy, Köbberling type",["FPLD1","Familial partial lipodystrophy type 1"]],[79085,"AKT2-related familial partial lipodystrophy",["AKT2-related FPLD"]],[79086,"Acquired generalized lipodystrophy",["Acquired lipoatrophic diabetes","Lawrence syndrome","Lawrence-Seip syndrome"]],[79087,"Acquired partial lipodystrophy",["Barraquer-Simons syndrome","Progressive cephalothoracic lipodystrophy"]],[79088,"Localized lipodystrophy"],[79091,"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome",["HIBM3","Hereditary inclusion body myopathy type 3","IBM3","Inclusion body myopathy type 3"]],[79093,"OBSOLETE: Foix-Alajouanine syndrome",["OBSOLETE: Angiodysgenetic necrotizing myelopathy","OBSOLETE: Familial osteosclerosis with abnormalities of the nervous system and meninges","OBSOLETE: Subacute angiohypertrophic myelomalacia","OBSOLETE: Subacute ascending necrotizing myelitis","OBSOLETE: Subacute necrotizing myelitis"]],[79094,"Grange syndrome",["Grange occlusive arterial syndrome","Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome"]],[79095,"Congenital bile acid synthesis defect type 4",["2-methylacyl-CoA racemase deficiency","AMACR deficiency","Alpha-methyl-acyl-CoA racemase deficiency","BASD4","Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome"]],[79096,"Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy",["P5PD-DEE","PNPO-related neonatal epileptic encephalopathy","Pyridoxal phosphate-dependent seizures","Pyridoxal phosphate-responsive seizures","Pyridoxamine 5'-phosphate oxidase deficiency"]],[79097,"Folinic acid-responsive seizures"],[79098,"Sympathetic ophthalmia",["Sympathetic uveitis"]],[79099,"Interstitial granulomatous dermatitis with arthritis",["Ackerman dermatitis syndrome","Ackerman syndrome","IGDA"]],[79100,"Atrophoderma vermiculata",["Folliculitis ulerythematosa reticulate"]],[79101,"Hyperprolinemia type 2",["Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency"]],[79102,"Thyrotoxic periodic paralysis",["Thyrotoxic hypokalemic periodic paralysis"]],[79105,"Myxofibrosarcoma",["Fibromyxosarcoma","Myxoid malignant fibrous histiocytoma"]],[79106,"Eiken syndrome"],[79107,"Developmental malformations-deafness-dystonia syndrome",["Developmental malformations-hearing loss-dystonia syndrome"]],[79113,"Mandibulofacial dysostosis-microcephaly syndrome",["MFDM syndrome","Mandibulofacial dysostosis, Guion-Almeida type"]],[79118,"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"],[79124,"Hepatic veno-occlusive disease-immunodeficiency syndrome",["VODI syndrome"]],[79126,"Acute interstitial pneumonia",["Acute interstitial pneumonitis","Hamman-Rich syndrome"]],[79127,"Respiratory bronchiolitis-interstitial lung disease syndrome",["RB-ILD"]],[79128,"Lymphoid interstitial pneumonia",["Lymphocytic interstitial pneumonia"]],[79129,"Trichodysplasia-amelogenesis imperfecta syndrome"],[79132,"OBSOLETE: Sparse hair-short stature-skin anomalies syndrome"],[79133,"Focal facial dermal dysplasia type I",["Bitemporal aplasia cutis congenita","Brauer syndrome","FFDD type I","FFDD1","Focal facial dermal dysplasia 1, Brauer type","Focal facial dermal dysplasia type 1"]],[79134,"DEND syndrome",["Developmental delay-epilepsy-neonatal diabetes syndrome"]],[79135,"Episodic ataxia type 3",["Episodic ataxia-vertigo-tinnitus-myokymia syndrome"]],[79136,"Episodic ataxia type 4",["PATX","Periodic vestibulocerebellar ataxia"]],[79137,"Generalized epilepsy-paroxysmal dyskinesia syndrome",["GEPD"]],[79138,"Bickerstaff brainstem encephalitis"],[79139,"Japanese encephalitis"],[79140,"Cutaneous neuroendocrine carcinoma",["MCC","Merkel cell carcinoma"]],[79141,"Hereditary painful callosities",["PPK nummularis","Plamoplantar hyperkeratosis nummularis","Plamoplantar keratoderma nummularis","Keratosis palmoplantaris nummularis"]],[79142,"NON RARE IN EUROPE: Familial Dupuytren contracture"],[79143,"Isolated congenital anonychia",["Isolated anonychia"]],[79144,"Isolated congenital onychodysplasia",["COIF","COIF syndrome","Congenital onychodysplasia of the index fingers","Iso-Kikuchi syndrome"]],[79145,"Dowling-Degos disease",["Reticular pigment anomaly of flexures"]],[79146,"Familial progressive hyperpigmentation",["Melanosis diffusa congenita","Melanosis universalis hereditaria","Universal melanosis"]],[79147,"Familial reactive perforating collagenosis"],[79148,"Elastosis perforans serpiginosa"],[79149,"Dermochondrocorneal dystrophy",["François syndrome"]],[79150,"Linear and whorled nevoid hypermelanosis",["LWNH"]],[79151,"Acrokeratosis verruciformis of Hopf",["AKV of Hopf"]],[79152,"Disseminated superficial actinic porokeratosis"],[79153,"Idiopathic trachyonychia"],[79154,"2-aminoadipic 2-oxoadipic aciduria",["Alpha-aminoadipic aciduria"]],[79155,"Hydroxykynureninuria",["Kynureninase deficiency","Xanthurenic aciduria"]],[79156,"Seizures-intellectual disability due to hydroxylysinuria syndrome"],[79157,"2-methylbutyryl-CoA dehydrogenase deficiency",["2-methylbutyric aciduria","Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency","SBCAD deficiency","Short/branched-chain acyl-coA dehydrogenase deficiency"]],[79158,"Cerebral organic aciduria"],[79159,"Isobutyryl-CoA dehydrogenase deficiency",["Isobutyric aciduria"]],[79161,"Disorder of carbohydrate metabolism"],[79163,"Classic organic aciduria"],[79166,"Disorder of amino acid absorption and transport"],[79167,"Disorder of urea cycle metabolism and ammonia detoxification"],[79168,"Disorder of bile acid synthesis"],[79169,"Disorder of neurotransmitter metabolism and transport"],[79171,"Disorder of cobalamin metabolism and transport"],[79172,"Creatine deficiency syndrome",["CCDS","CDS","Cerebral creatine deficiency syndrome"]],[79173,"Disorder of methionine cycle and sulfur amino acid metabolism",["Cytosolic methyl group transfer or sulfur amino acid metabolism disorder"]],[79174,"Disorder of fatty acid oxidation and ketone body metabolism"],[79175,"Disorder of gamma-aminobutyric acid metabolism",["Disorder of GABA metabolism"]],[79177,"Gluconeogenesis disorder"],[79178,"Glucose transport disorder"],[79179,"Disorder of glycerol metabolism"],[79181,"Disorder of histidine metabolism"],[79183,"Disorder of ketolysis"],[79185,"Disorder of ornithine or proline metabolism"],[79186,"Disorder of pentose phosphate metabolism"],[79187,"Disorder of peptide metabolism"],[79188,"Peroxisomal beta-oxidation disorder"],[79189,"Peroxisome biogenesis disorder",["PBD-ZSD","Peroxisome biogenesis disorder spectrum","Peroxisome biogenesis disorder-Zellweger spectrum disorder"]],[79190,"Disorder of phenylalanin or tyrosine metabolism"],[79191,"Disorder of purine metabolism"],[79192,"Disorder of pyridoxine metabolism"],[79193,"Disorder of pyrimidine metabolism"],[79194,"Disorder of serine or glycine metabolism"],[79195,"Sterol biosynthesis disorder"],[79196,"Disorder of the gamma-glutamyl cycle"],[79197,"Disorder of branched-chain amino acid metabolism"],[79200,"Disorder of energy metabolism"],[79201,"Glycogen storage disease",["GSD","Glycogenosis"]],[79204,"Lipid storage disease"],[79207,"Disorder of lysosomal amino acid transport"],[79211,"OBSOLETE: Combined hyperlipidemia",["OBSOLETE: Combined hyperlipoproteinemia","OBSOLETE: Mixed hyperlipidemia","OBSOLETE: Mixed hyperlipoproteinemia"]],[79212,"Mucolipidosis"],[79213,"Mucopolysaccharidosis"],[79214,"Disorder of biogenic amine metabolism and transport"],[79215,"Oligosaccharidosis"],[79217,"Other metabolic disease with skin involvement"],[79219,"Metabolic disease involving other neurotransmitter deficiency"],[79224,"Disorder of purine or pyrimidine metabolism"],[79225,"Sphingolipidosis"],[79226,"Sterol metabolism disorder"],[79230,"HJV or HAMP-related hemochromatosis",["Hemochromatosis type 2","Juvenile hemochromatosis"]],[79233,"Hypoxanthine guanine phosphoribosyltransferase partial deficiency",["HPRT deficiency, grade I","HPRT partial deficiency","HPRT-related gout","HPRT-related hyperuricemia","HPRT1 partial deficiency","Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency","Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I","Kelley-Seegmiller syndrome"]],[79234,"Crigler-Najjar syndrome type 1",["Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1","Bilirubin-UGT deficiency type 1"]],[79235,"Crigler-Najjar syndrome type 2",["Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2","Bilirubin-UGT deficiency type 2"]],[79237,"Galactokinase deficiency",["GALK deficiency","GALK deficiency galactosemia","Galactokinase deficiency galactosemia","Galactosemia type II","Type 2 galactosemia","Type II galactosemia","Galactosemia type 2"]],[79238,"Galactose epimerase deficiency",["GALE deficiency","GALE deficiency galactosemia","Galactose epimerase deficiency galactosemia","Galactosemia type 3","Galactosemia type III","Type 3 galactosemia","Type III galactosemia","UDP-galactose-4-epimerase deficiency","Uridine diphosphate galactose-4-epimerase deficiency"]],[79239,"Classic galactosemia"],[79240,"Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency",["GSD due to liver and muscle phosphorylase kinase deficiency","GSD type 9B","GSD type IXb","Glycogen storage disease type 9B","Glycogen storage disease type IXb","Glycogenosis due to liver and muscle phosphorylase kinase deficiency","Glycogenosis type 9B","Glycogenosis type IXb"]],[79241,"Biotinidase deficiency",["Juvenile-onset multiple carboxylase deficiency","Late-onset multiple carboxylase deficiency"]],[79242,"Holocarboxylase synthetase deficiency",["Early-onset multiple carboxylase deficiency","Neonatal multiple carboxylase deficiency"]],[79243,"Pyruvate dehydrogenase E1-alpha deficiency",["PDHAD","Pyruvate decarboxylase deficiency","Pyruvate dehydrogenase complex E1 component subunit alpha deficiency"]],[79244,"Pyruvate dehydrogenase E2 deficiency",["Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency","Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency","Pyruvate dehydrogenase complex component E2 deficiency"]],[79246,"Pyruvate dehydrogenase phosphatase deficiency",["PDH phosphatase deficiency"]],[79253,"Mild phenylketonuria",["Mild PKU","Variant PKU","Variant phenylketonuria","mPKU"]],[79254,"Classic phenylketonuria",["Classic PKU"]],[79255,"GM1 gangliosidosis type 1",["Infantile GM1 gangliosidosis","Norman-Landing disease"]],[79256,"GM1 gangliosidosis type 2",["Juvenile GM1 gangliosidosis","Late-infantile GM1 gangliosidosis"]],[79257,"GM1 gangliosidosis type 3",["Adult-onset GM1 gangliosidosis"]],[79258,"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia",["G6P deficiency type 1a","GSD due to G6P deficiency type 1a","GSD due to G6P deficiency type Ia","GSD type 1a","GSDIa","Glycogen storage disease due to G6P deficiency type Ia","Glycogen storage disease type 1a","Glycogenosis due to glucose-6-phosphatase deficiency type 1a","Glycogenosis due to glucose-6-phosphatase deficiency type Ia","Glycogenosis type Ia"]],[79259,"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib",["G6P deficiency type Ib","G6P translocase deficiency","G6PT deficiency","GSD due to G6P deficiency type 1b","GSD due to G6P deficiency type Ib","GSD due to G6PT deficiency","GSD type 1 non a","GSD type 1b","GSD type Ib","GSDIb","Glycogen storage disease due to G6P deficiency type Ib","Glycogen storage disease type 1b","Glycogen storage disease type Ib","Glycogenosis due to glucose-6-phosphatase deficiency type 1b","Glycogenosis due to glucose-6-phosphatase transport defect type Ib","Glycogenosis type 1b","Glycogenosis type Ib"]],[79260,"Glycogen storage disease type 1c",["Type 1C glycogenosis"]],[79261,"Glycogen storage disease type 1d",["Type 1D glycogenosis"]],[79262,"OBSOLETE: Adult neuronal ceroid lipofuscinosis",["OBSOLETE: ANCL","OBSOLETE: Adult CLN disease","OBSOLETE: Adult NCL","OBSOLETE: Adult NCL disease","OBSOLETE: Kufs disease"]],[79263,"OBSOLETE: Infantile neuronal ceroid lipofuscinosis",["OBSOLETE: Hagberg-Santavuori disease","OBSOLETE: INCL","OBSOLETE: Infantile NCL","OBSOLETE: Santavuori disease","OBSOLETE: Santavuori-Haltia disease"]],[79264,"OBSOLETE: Juvenile neuronal ceroid lipofuscinosis",["OBSOLETE: Batten disease","OBSOLETE: JNCL","OBSOLETE: Juvenile CLN disease","OBSOLETE: Juvenile NCL","OBSOLETE: Juvenile NCL disease","OBSOLETE: Spielmeyer-Vogt disease"]],[79269,"Sanfilippo syndrome type A",["Heparan sulfamidase deficiency","MPS3A","MPSIIIA","Mucopolysaccharidosis type 3A","Mucopolysaccharidosis type IIIA"]],[79270,"Sanfilippo syndrome type B",["MPS3B","MPSIIIB","Mucopolysaccharidosis type 3B","Mucopolysaccharidosis type IIIB","N-acetyl-alpha-glucosaminidase deficiency"]],[79271,"Sanfilippo syndrome type C",["HGSNAT deficiency","Heparan-alpha-glucosaminide N-acetyltransferase deficiency","MPS3C","MPSIIIC","Mucopolysaccharidosis type 3C","Mucopolysaccharidosis type IIIC"]],[79272,"Sanfilippo syndrome type D",["GNS deficiency","Glucosamine N-acetyl-6-sulfatase deficiency","MPS3D","MPSIIID","Mucopolysaccharidosis type 3D","Mucopolysaccharidosis type IIID"]],[79273,"Hereditary coproporphyria"],[79276,"Acute intermittent porphyria"],[79277,"Congenital erythropoietic porphyria",["CEP","Günther disease"]],[79278,"Autosomal erythropoietic protoporphyria",["EPP"]],[79279,"Alpha-N-acetylgalactosaminidase deficiency type 1",["NAGA deficiency type 1","Schindler disease type 1"]],[79280,"Alpha-N-acetylgalactosaminidase deficiency type 2",["Adult-onset Alpha-N-acetylgalactosaminidase deficiency","Kanzaki disease","NAGA deficiency type 2","Schindler disease type 2"]],[79281,"Alpha-N-acetylgalactosaminidase deficiency type 3",["NAGA deficiency type 3","Schindler disease type 3"]],[79282,"Methylmalonic acidemia with homocystinuria, type cblC",["CblC defect","Cobalamin C defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC","Methylmalonic aciduria with homocystinuria, type cblC"]],[79283,"Methylmalonic acidemia with homocystinuria, type cblD",["CblD defect","Cobalamin D defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD","Methylmalonic aciduria with homocystinuria, type cblD"]],[79284,"Methylmalonic acidemia with homocystinuria type cblF",["CblF defect","Cobalamin F defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF","Lysosomal membrane cobalamin transporter deficiency","Methylmalonic aciduria with homocystinuria, type cblF"]],[79289,"Niemann-Pick disease type D",["Niemann-Pick disease, Nova Scotia type"]],[79292,"Fish-eye disease",["FED","Partial LCAT deficiency"]],[79293,"Familial LCAT deficiency",["Complete LCAT deficiency","FLD","Norum disease"]],[79298,"Diazoxide-resistant focal hyperinsulinism",["Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form"]],[79299,"Congenital glucokinase-related hyperinsulinism",["Glucokinase-related hyperinsulinemic hypoglycemia"]],[79301,"Congenital bile acid synthesis defect type 1",["3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency","BASD1"]],[79302,"Congenital bile acid synthesis defect type 3",["BASD3","Oxysterol 7-alpha-hydroxylase deficiency"]],[79303,"Congenital bile acid synthesis defect type 2",["BASD2","Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency"]],[79304,"Progressive familial intrahepatic cholestasis type 2",["BSEP deficiency","PFIC2"]],[79305,"Progressive familial intrahepatic cholestasis type 3",["PFIC3"]],[79306,"Progressive familial intrahepatic cholestasis type 1",["Byler disease","FIC1 deficiency","PFIC1"]],[79310,"Vitamin B12-responsive methylmalonic acidemia type cblA",["Vitamin B12-responsive methylmalonic aciduria type cblA"]],[79311,"Vitamin B12-responsive methylmalonic acidemia type cblB",["Vitamin B12-responsive methylmalonic aciduria, type cblB"]],[79312,"Vitamin B12-unresponsive methylmalonic acidemia type mut-",["Partial deficiency of methylmalonyl-CoA mutase","Vitamin B12-unresponsive methylmalonic aciduria type mut-"]],[79314,"L-2-hydroxyglutaric aciduria",["L-2-HGA","L-2-hydroxyglutaric acidemia"]],[79315,"D-2-hydroxyglutaric aciduria",["D-2-HGA","D-2-hydroxyglutaric acidemia"]],[79316,"OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency",["OBSOLETE: PEPCK1 deficiency"]],[79317,"OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency",["OBSOLETE: PEPCK2 deficiency"]],[79318,"PMM2-CDG",["CDG syndrome type Ia","CDG-Ia","CDG1A","Carbohydrate deficient glycoprotein syndrome type Ia","Congenital disorder of glycosylation type 1a","Congenital disorder of glycosylation type Ia","Phosphomannomutase 2 deficiency"]],[79319,"MPI-CDG",["CDG syndrome type Ib","CDG-Ib","CDG1B","Carbohydrate deficient glycoprotein syndrome type Ib","Congenital disorder of glycosylation type 1b","Congenital disorder of glycosylation type Ib","Phosphomannose isomerase deficiency"]],[79320,"ALG6-CDG",["CDG syndrome type Ic","CDG-Ic","CDG1C","Carbohydrate deficient glycoprotein syndrome type Ic","Congenital disorder of glycosylation type 1c","Congenital disorder of glycosylation type Ic","Glucosyltransferase 1 deficiency"]],[79321,"ALG3-CDG",["CDG syndrome type Id","CDG-Id","CDG1D","Carbohydrate deficient glycoprotein syndrome type Id","Congenital disorder of glycosylation type 1d","Congenital disorder of glycosylation type Id","Mannosyltransferase 6 deficiency"]],[79322,"DPM1-CDG",["CDG syndrome type Ie","CDG-Ie","CDG1E","Carbohydrate deficient glycoprotein syndrome type Ie","Congenital disorder of glycosylation type 1e","Congenital disorder of glycosylation type Ie","Dol-P-mannosyltransferase deficiency"]],[79323,"MPDU1-CDG",["CDG syndrome type If","CDG-If","CDG1F","Carbohydrate deficient glycoprotein syndrome type If","Congenital disorder of glycosylation type 1f","Congenital disorder of glycosylation type If"]],[79324,"ALG12-CDG",["Congenital disorder of glycosylation type Ig","Mannosyltransferase 8 deficiency","CDG syndrome type Ig","CDG-Ig","CDG1G","Carbohydrate deficient glycoprotein syndrome type Ig","Congenital disorder of glycosylation type 1g"]],[79325,"ALG8-CDG",["CDG syndrome type Ih","CDG-Ih","CDG1H","Carbohydrate deficient glycoprotein syndrome type Ih","Congenital disorder of glycosylation type 1h","Congenital disorder of glycosylation type Ih","Glucosyltransferase 2 deficiency"]],[79326,"ALG2-CDG",["CDG syndrome type Ii","CDG-Ii","CDG1I","Carbohydrate deficient glycoprotein syndrome type Ii","Congenital disorder of glycosylation type 1i","Congenital disorder of glycosylation type Ii","Mannosyltransferase 2 deficiency"]],[79327,"ALG1-CDG",["Carbohydrate deficient glycoprotein syndrome type Ik","Congenital disorder of glycosylation type 1k","Congenital disorder of glycosylation type Ik","Mannosyltransferase 1 deficiency","CDG syndrome type Ik","CDG-Ik","CDG1K"]],[79328,"ALG9-CDG",["CDG syndrome type IL","CDG-IL","CDG1L","Carbohydrate deficient glycoprotein syndrome type IL","Congenital disorder of glycosylation type 1L","Mannosyltransferase 7-9 deficiency"]],[79329,"MGAT2-CDG",["CDG syndrome type IIa","CDG-IIa","CDG2A","Carbohydrate deficient glycoprotein syndrome type IIa","Congenital disorder of glycosylation type 2a","Congenital disorder of glycosylation type IIa","N-acetylglucosaminyltransferase 2 deficiency"]],[79330,"MOGS-CDG",["CDG syndrome type IIb","CDG-IIb","CDG2B","Carbohydrate deficient glycoprotein syndrome type IIb","Congenital disorder of glycosylation type 2b","Congenital disorder of glycosylation type IIb","Glucosidase 1 deficiency"]],[79332,"B4GALT1-CDG",["Beta-1,4-galactosyltransferase deficiency","CDG syndrome type IId","CDG-IId","CDG2D","Carbohydrate deficient glycoprotein syndrome type IId","Congenital disorder of glycosylation type 2d","Congenital disorder of glycosylation type IId"]],[79333,"COG7-CDG",["CDG syndrome type IIe","CDG-IIe","CDG2E","Carbohydrate deficient glycoprotein syndrome type IIe","Congenital disorder of glycosylation type 2e","Congenital disorder of glycosylation type IIe"]],[79344,"OBSOLETE: Chondrodysplasia punctata, Sheffield type"],[79345,"Brachytelephalangic chondrodysplasia punctata"],[79346,"Chondrodysplasia punctata, tibial-metacarpal type"],[79347,"Chondrodysplasia punctata, Toriello type",["Toriello-Higgins-Miller syndrome"]],[79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",["PSPH deficiency, infantile/juvenile form"]],[79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",["PHGDH deficiency, infantile/juvenile form"]],[79353,"Epidermal disease"],[79354,"Ichthyosis"],[79355,"Erythrokeratoderma"],[79356,"Acrokeratoderma"],[79357,"Hereditary palmoplantar keratoderma",["Hereditary PPK","Hereditary keratosis palmoplantaris","Hereditary palmoplantar hyperkeratosis"]],[79358,"Porokeratosis"],[79359,"Other epidermal disorder"],[79360,"Other genetic epidermal disease"],[79361,"Inherited epidermolysis bullosa",["Epidermolysis bullosa hereditaria","Hereditary epidermolysis bullosa"]],[79362,"Epidermal appendage anomaly"],[79363,"Hair anomaly"],[79364,"Alopecia"],[79365,"Rare disorder with hypertrichosis"],[79366,"Isolated hair shaft abnormality"],[79367,"Syndromic hair shaft abnormality"],[79368,"Nail anomaly"],[79369,"Isolated nail anomaly"],[79370,"Syndromic nail anomaly"],[79372,"Sebaceous gland anomaly"],[79373,"Ectodermal dysplasia syndrome",["Ectodermal dysplasia"]],[79374,"Pigmentation anomaly of the skin"],[79375,"Hyperpigmentation of the skin"],[79376,"Hypopigmentation of the skin"],[79377,"Dermis disorder"],[79378,"Dermis elastic tissue disorder"],[79379,"Skin vascular disease"],[79380,"Mixed dermis disorder"],[79381,"Other dermis disorder"],[79382,"Subcutaneous tissue disease"],[79383,"OBSOLETE: Lymphedema"],[79384,"Rare urticaria"],[79385,"Unclassified genetic skin disorder"],[79386,"Rare skin tumor or hamartoma"],[79387,"Metabolic disease with skin involvement"],[79388,"Mucopolysaccharidosis with skin involvement",["MPS with skin involvement"]],[79389,"Premature aging"],[79390,"Rare photodermatosis",["Rare skin photosensitivity"]],[79391,"Immune deficiency with skin involvement"],[79394,"Congenital ichthyosiform erythroderma",["CIE","Erythrodermic ichthyosis","Non-bullous congenital ichthyosiform erythroderma"]],[79395,"Keratoderma hereditarium mutilans with ichthyosis",["Camisa disease","Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome","Loricrin keratoderma","Vohwinkel syndrome with ichthyosis"]],[79396,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",["Autosomal dominant generalized EBS, severe form","Epidermolysis bullosa simplex herpetiformis","Epidermolysis bullosa simplex, Dowling-Meara type"]],[79397,"Epidermolysis bullosa simplex with mottled pigmentation",["EBS with mottled pigmentation","EBS-MP"]],[79399,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form",["Autosomal dominant generalized EBS, intermediate form","Epidermolysis bullosa simplex, Koebner type","Epidermolysis bullosa simplex, Köbner type"]],[79400,"Localized epidermolysis bullosa simplex",["EBS-loc","Epidermolysis bullosa simplex of palms and soles","Epidermolysis bullosa simplex, Weber-Cockayne type","Localized EBS"]],[79401,"PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement",["PLEC-related intermediate EBS without extracutaneous involvement"]],[79402,"Intermediate generalized junctional epidermolysis bullosa",["Generalized atrophic benign epidermolysis bullosa","Generalized junctional epidermolysis bullosa, non-Herlitz type","Intermediate generalized JEB","Junctional epidermolysis bullosa generalisata mitis","Junctional epidermolysis bullosa, Disentis type"]],[79403,"Junctional epidermolysis bullosa with pyloric atresia",["Carmi syndrome","JEB with pyloric atresia","JEB-PA"]],[79404,"Severe generalized junctional epidermolysis bullosa",["Epidermolysis bullosa letalis","JEB-H","Junctional epidermolysis bullosa generalisata gravis","Junctional epidermolysis bullosa, Herlitz type","Junctional epidermolysis bullosa, Herlitz-Pearson type","Severe generalized JEB"]],[79405,"Junctional epidermolysis bullosa inversa",["JEB inversa","JEB-I"]],[79406,"Late-onset junctional epidermolysis bullosa",["Epidermolysis bullosa progressiva","JEB-lo","Late-onset JEB"]],[79407,"Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type",["DDEB, Cockayne-Touraine type"]],[79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",["Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis","Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type","Generalized RDEB, severe form","RDEB generalisata gravis","RDEB, Hallopeau-Siemens type","Severe generalized RDEB"]],[79409,"Recessive dystrophic epidermolysis bullosa inversa",["RDEB inversa","RDEB-I"]],[79410,"Localized dystrophic epidermolysis bullosa, pretibial form",["DEB-Pt","Localized DEB, pretibial form"]],[79411,"Self-improving dystrophic epidermolysis bullosa",["Self-improving DEB","Transient bullous dermolysis of the newborn"]],[79414,"Woolly hair nevus",["Wooly hair nevus"]],[79428,"OBSOLETE: Familial segmental neurofibromatosis"],[79429,"OBSOLETE: Familial spinal neurofibromatosis"],[79430,"Hermansky-Pudlak syndrome",["HPS"]],[79431,"Oculocutaneous albinism type 1A",["OCA1A","Tyrosinase-negative oculocutaneous albinism"]],[79432,"Oculocutaneous albinism type 2",["OCA2"]],[79433,"Oculocutaneous albinism type 3",["OCA3","Red oculocutaneous albinism","Rufous oculocutaneous albinism","Xanthous oculocutaneous albinism"]],[79434,"Oculocutaneous albinism type 1B",["OCA1B","Oculocutaneous albinism, Amish type","Platinum oculocutaneous albinism","Yellow oculocutaneous albinism"]],[79435,"Oculocutaneous albinism type 4",["OCA4"]],[79443,"Pseudohypoparathyroidism type 1A",["AHO-PHP syndrome Ia","Albright hereditary osteodystrophy-PHP syndrome Ia"]],[79444,"Pseudohypoparathyroidism type 1C"],[79445,"Pseudopseudohypoparathyroidism",["AHO-PPHP syndrome","Albright hereditary osteodystrophy-PPHP syndrome"]],[79446,"Multiple pterygium syndrome, Aslan type"],[79447,"X-linked lethal multiple pterygium syndrome"],[79450,"Non-hereditary congenital primary lymphedema"],[79452,"Milroy disease",["Hereditary lymphedema type I","Nonne-Milroy lymphedema"]],[79455,"Cutaneous mastocytoma",["Cutaneous local mastocytoma","Multiple mastocytoma","Solitary mastocytoma"]],[79456,"Diffuse cutaneous mastocytosis",["DCM","Diffuse cutaneous maculopapulous mastocytosis"]],[79457,"Maculopapular cutaneous mastocytosis",["Urticaria pigmentosa"]],[79458,"Oley syndrome",["Congenital hypotrichosis-milia syndrome"]],[79459,"OBSOLETE: Follicular atrophoderma-basal cell carcinoma"],[79466,"Inflammatory linear verrucous epidermal nevus",["ILVEN"]],[79467,"Verrucous nevus"],[79468,"Acanthokeratolytic verrucous nevus"],[79473,"Variegate porphyria",["Porphyria variegata","Protoporphyrinogen oxidase deficiency"]],[79474,"Atypical Werner syndrome",["Atypical progeroid syndrome"]],[79476,"Griscelli syndrome type 1",["Griscelli-Pruniéras syndrome type 1","Hypopigmentation-neurologic impairment syndrome"]],[79477,"Griscelli syndrome type 2",["Griscelli-Pruniéras syndrome type 2","Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome"]],[79478,"Griscelli syndrome type 3",["Griscelli-Pruniéras syndrome type 3"]],[79479,"Pemphigus vegetans"],[79480,"Pemphigus erythematosus",["Seborrheic pemphigus","Senear-Usher syndrome"]],[79481,"Pemphigus foliaceus"],[79482,"Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome",["Akesson syndrome"]],[79483,"Phakomatosis cesioflammea",["Phakomatosis pigmentovascularis type 2"]],[79484,"Phakomatosis cesiomarmorata",["Phakomatosis pigmentovascularis type 5"]],[79485,"Phakomatosis spilorosea",["Phakomatosis pigmentovascularis type 3"]],[79486,"Cystic hygroma"],[79489,"Macrocystic lymphatic malformation",["Cavernous lymphangioma","Cavernous lymphatic malformation","Macrocystic lymphangioma"]],[79490,"Microcystic lymphatic malformation",["Capillary lymphangioma","Capillary lymphatic malformation","Cutaneous lymphangioma circumscriptum","Microcystic infiltrating lymphatic malformation","Microcystic lymphangioma","Superficial lymphangioma","Superficial lymphatic malformation"]],[79492,"Pili gemini",["Pili multigemini"]],[79493,"Brooke-Spiegler syndrome",["CYLD cutaneous syndrome"]],[79495,"X-linked congenital generalized hypertrichosis",["Congenital generalized hypertrichosis, Macias-Flores type","Macias Flores-Garcia Cruz-Rivera syndrome"]],[79499,"Autosomal dominant deafness-onychodystrophy syndrome",["Autosomal dominant hearing loss-onychodystrophy syndrome","DDOD syndrome"]],[79500,"DOORS syndrome",["Autosomal recessive deafness-onychodystrophy syndrome","Autosomal recessive hearing loss-onychodystrophy syndrome","DOOR syndrome","Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome","Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome","Deafness-onychoosteodystrophy-intellectual disability syndrome","Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome","Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome","Hearing loss-onychoosteodystrophy-intellectual disability syndrome"]],[79501,"Punctate palmoplantar keratoderma type 1",["Buschke-Fischer-Brauer syndrome","Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type","PPKP1"]],[79502,"Punctate palmoplantar keratoderma type 2",["PPKP2","PPPP","Porokeratosis punctata palmaris et plantaris","Punctate palmoplantar hyperkeratosis type 2"]],[79503,"Ichthyosis hystrix of Curth-Macklin",["Ichthyosis hystrix, Curth-Macklin type"]],[79504,"Ichthyosis hystrix gravior",["Ichthyosis, Lambert type"]],[79506,"OBSOLETE: Cholesterol-ester transfer protein deficiency",["OBSOLETE: CEPT deficiency","OBSOLETE: Familial hyperalphalipoproteinemia type I"]],[79507,"Hypotonia-failure to thrive-microcephaly syndrome",["LTC4 synthase deficiency","Leukotriene C4 synthase deficiency"]],[79643,"Autosomal recessive hyperinsulinism due to SUR1 deficiency",["Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency"]],[79644,"Autosomal recessive hyperinsulinism due to Kir6.2 deficiency",["Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"]],[79651,"Mild hyperphenylalaninemia",["Mild HPA","Non-PKU HPA","mHPA"]],[79665,"Gardner syndrome"],[79669,"Autoimmune bullous skin disease"],[82004,"Ehlers-Danlos syndrome with periventricular heterotopia",["EDS with periventricular heterotopia","Filamin A-related EDS with periventricular nodular heterotopia"]],[83001,"Urogenital tract malformation"],[83311,"Rocky Mountain spotted fever"],[83312,"Rickettsialpox"],[83313,"Boutonneuse fever",["Mediterranean spotted fever"]],[83314,"Epidemic typhus"],[83315,"Murine typhus",["Endemic typhus","Flea-borne typhus"]],[83316,"Pseudotyphus of California"],[83317,"Scrub typhus",["Tsutsugamushi disease","Tsutsugamushi fever"]],[83330,"Proximal spinal muscular atrophy type 1",["Infantile spinal muscular atrophy","Infantile-onset spinal muscular atrophy","SMA type 1","SMA type I","SMA-I","SMA1","Werdnig-Hoffmann disease"]],[83418,"Proximal spinal muscular atrophy type 2",["Intermediate spinal muscular atrophy","SMA type 2","SMA type II","SMA-II","SMA2"]],[83419,"Proximal spinal muscular atrophy type 3",["Juvenile spinal muscular atrophy","Kugelberg-Welander disease","SMA type 3","SMA type III","SMA-III","SMA3"]],[83420,"Proximal spinal muscular atrophy type 4",["SMA type 4","SMA type IV","SMA-IV","SMA4","Spinal muscular atrophy, adult form"]],[83449,"NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome",["NON RARE IN EUROPE: SIADH"]],[83450,"Regional odontodysplasia",["Ghost teeth"]],[83451,"Florid cemento-osseous dysplasia",["Florid osseous dysplasia","Focal cemento-osseous dysplasia"]],[83452,"Complex regional pain syndrome",["Sudeck's atrophy","Causalgia","Reflex sympathetic dystrophy","Algodystrophy","Algoneurodystrophy"]],[83453,"Vulvovaginal gingival syndrome"],[83454,"Glomuvenous malformation",["Glomangiomatosis","Hereditary multiple glomangiomas","Multiple glomus tumors","VMGLOM","Venous malformations with glomus cells"]],[83461,"Congenital primary aphakia"],[83463,"Microtia"],[83465,"Narcolepsy type 2",["Narcolepsy without cataplexy"]],[83467,"Morvan syndrome",["Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome","Morvan fibrillary chorea"]],[83468,"Solitary bone cyst",["Juvenile bone cyst"]],[83469,"Desmoplastic small round cell tumor",["DSRCT"]],[83471,"T-cell immunodeficiency with thymic aplasia",["Isolated aplasia/hypoplasia of the thymus","Isolated congenital athymia","Isolated congenital thymic aplasia/hypoplasia","Isolated thymic defect due to thymic aplasia/hypoplasia","Nezelof syndrome"]],[83472,"CAMOS syndrome",["Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome","SCAR5"]],[83473,"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome",["MPPH syndrome"]],[83476,"West-Nile encephalitis",["West-Nile fever"]],[83482,"Mycoplasma encephalitis"],[83483,"La Crosse encephalitis",["Californian encephalitis"]],[83484,"St. Louis encephalitis",["Saint Louis encephalitis"]],[83593,"Western equine encephalitis",["Western equine encephalomyelitis"]],[83594,"Eastern equine encephalitis",["Eastern equine encephalomyelitis"]],[83595,"Colorado tick fever",["American mountain fever","Colorado tick encephalitis","Colorado tick-borne disease","Mountain fever","Mountain tick fever"]],[83597,"Acute disseminated encephalomyelitis",["ADEM","Acute demyelinating encephalomyelitis","Acute disseminated encephalitis"]],[83600,"Encephalitis lethargica",["Von Economo encephalitis"]],[83601,"Steroid-responsive encephalopathy associated with autoimmune thyroiditis",["Hashimoto encephalitis","SREAT"]],[83616,"Rubella panencephalitis"],[83617,"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome"],[83618,"Severe dilated cardiomyopathy due to lamin A/C mutation",["Severe dilated cardiomyopathy with or without myopathy"]],[83619,"Macrostomia-preauricular tags-external ophthalmoplegia syndrome"],[83620,"Enteric anendocrinosis",["Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells"]],[83628,"LUMBAR syndrome",["Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome","PELVIS syndrome","Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome","SACRAL syndrome"]],[83629,"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome",["H-SMD","Hypomyelination-spondyloepimetaphyseal dysplasia syndrome","Leukoencephalopathy-SEMD syndrome","Leukoencephalopathy-metaphyseal chondrodysplasia syndrome"]],[83639,"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency",["Congenital disorder of glycosylation due to PIGM deficiency","PIGM-CDG"]],[83642,"Microcytic anemia with liver iron overload"],[83648,"OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome"],[84064,"Trichohepatoenteric syndrome",["Phenotypic diarrhea","SD/THE","Syndromic diarrhea","Syndromic diarrhea/Tricho-hepato-enteric syndrome","Tricho-hepato-enteric syndrome"]],[84065,"Idiopathic malabsorption due to bile acid synthesis defects",["Idiopathic bile acid malabsorption"]],[84081,"Senior-Boichis syndrome",["Boichis disease","Nephronophthisis-hepatic fibrosis syndrome"]],[84085,"Hinman syndrome",["HAS","HS","Hinman-Allen syndrome","Non-neurogenic neurogenic bladder","Occult neuropathic bladder"]],[84087,"Collagen type III glomerulopathy",["Collagenofibrotic glomerulopathy"]],[84090,"Fibronectin glomerulopathy",["GFND","Glomerulopathy with fibronectin deposits"]],[84093,"Hereditary thermosensitive neuropathy"],[84096,"OBSOLETE: Unknown leukodystrophy"],[84132,"Desmin-related myopathy with Mallory body-like inclusions",["Early-onset desmin-related myopathy"]],[84142,"Isaacs syndrome",["Continuous muscle fiber activity syndrome","Isaacs-Mertens syndrome","Quantal squander syndrome"]],[84271,"Sporadic idiopathic steroid-resistant nephrotic syndrome",["Sporadic idiopathic nephrosis"]],[85102,"Perineurioma"],[85110,"Familial encephalopathy with neuroserpin inclusion bodies",["FENIB"]],[85112,"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome",["Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome"]],[85128,"Bothnia retinal dystrophy",["Västerbotten dystrophy"]],[85136,"Cystic leukoencephalopathy without megalencephaly",["CLWM"]],[85138,"Addison disease",["Autoimmune Addison disease","Autoimmune adrenalitis","Classic Addison disease","Primary Addison disease","Primary adrenal insufficiency"]],[85142,"NON RARE IN EUROPE: Aldosterone-producing adenoma",["NON RARE IN EUROPE: Aldosterone-secreting adenoma","NON RARE IN EUROPE: Aldosteronoma","NON RARE IN EUROPE: Conn adenoma","NON RARE IN EUROPE: Primary aldosteronism due to Conn adenoma"]],[85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",["Kaeser syndrome","Stark-Kaeser syndrome"]],[85162,"Facial onset sensory and motor neuronopathy",["FOSMN syndrome"]],[85163,"Hypomyelination-congenital cataract syndrome"],[85164,"Camptodactyly-tall stature-scoliosis-hearing loss syndrome",["CATSHL syndrome","Camptodactyly-tall stature-scoliosis-deafness syndrome"]],[85165,"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome",["SADDAN"]],[85166,"Platyspondylic dysplasia, Torrance type",["PLSD-T","Platyspondylic dysplasia, Torrance-Luton type","Platyspondylic lethal skeletal dysplasia, Torrance type"]],[85167,"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",["SMD-CRD"]],[85168,"Craniofacial conodysplasia"],[85169,"Familial digital arthropathy-brachydactyly"],[85170,"Mesomelic dysplasia, Savarirayan type",["Mesomelic dysplasia with absent fibulas and triangular tibias","Triangular tibia-fibular aplasia syndrome"]],[85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type"],[85173,"IMAGe syndrome",["Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome"]],[85174,"Pseudodiastrophic dysplasia"],[85175,"Astley-Kendall dysplasia"],[85179,"Infantile osteopetrosis with neuroaxonal dysplasia"],[85182,"Diaphyseal medullary stenosis-bone malignancy syndrome",["Bone dysplasia-medullary fibrosarcoma syndrome","Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome","Hardcastle syndrome"]],[85184,"Craniometadiaphyseal dysplasia, wormian bone type"],[85186,"Endosteal sclerosis-cerebellar hypoplasia syndrome"],[85188,"Metaphyseal dysplasia, Braun-Tinschert type"],[85191,"Singleton-Merten dysplasia",["Singleton-Merten syndrome"]],[85192,"Calvarial doughnut lesions-bone fragility syndrome",["Familial doughnut lesions of skull"]],[85193,"Idiopathic juvenile osteoporosis",["IJO","Juvenile osteoporosis"]],[85194,"Spondylo-ocular syndrome"],[85195,"Familial expansile osteolysis",["Hereditary expansile polyostotic osteolytic dysplasia","McCabe disease"]],[85196,"Nodulosis-arthropathy-osteolysis syndrome",["NAO syndrome"]],[85197,"Genochondromatosis type 1"],[85198,"Dysspondyloenchondromatosis"],[85199,"Craniosynostosis-anal anomalies-porokeratosis syndrome",["CAP syndrome","CDAGS syndrome"]],[85200,"Ischio-vertebral syndrome",["Ischiospinal dysostosis","Ischiovertebral dysplasia"]],[85201,"Genitopatellar syndrome",["Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome"]],[85202,"Keutel syndrome",["Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome"]],[85203,"Acropectoral syndrome",["ACRP syndrome","Syndactyly-preaxial polydactyly-sternal deformity syndrome"]],[85212,"Fetal Gaucher disease",["Perinatal lethal Gaucher disease"]],[85273,"X-linked intellectual disability, Abidi type"],[85274,"Ahmad syndrome",["Intellectual developmental disorder, X-linked, syndromic 7","MRXS7","X-linked intellectual disability, Ahmad type"]],[85275,"Microphthalmia-ankyloblepharon-intellectual disability syndrome",["MCOPS4","Syndromic microphthalmia type 4"]],[85276,"X-linked intellectual disability, Armfield type",["Armfield syndrome"]],[85277,"X-linked intellectual disability, Cantagrel type"],[85278,"Christianson syndrome",["X-linked Angelman-like syndrome"]],[85279,"KDM5C-related syndromic X-linked intellectual disability",["Claes-Jensen syndrome"]],[85280,"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"],[85281,"OBSOLETE: MECP2 duplication syndrome",["OBSOLETE: Lubs-Arena syndrome","OBSOLETE: X-linked intellectual disability, Lubs type","OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome"]],[85282,"MEHMO syndrome",["X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome"]],[85283,"X-linked intellectual disability, Miles-Carpenter type"],[85284,"BRESEK syndrome",["BRESHECK syndrome"]],[85285,"X-linked intellectual disability, Schimke type"],[85286,"X-linked intellectual disability, Shashi type",["Syndromic X-linked intellectual disability type 11"]],[85287,"X-linked intellectual disability, Siderius type"],[85288,"X-linked intellectual disability, Stocco Dos Santos type"],[85289,"X-linked intellectual disability, Vitale type"],[85290,"X-linked intellectual disability, Wilson type"],[85291,"X-linked intellectual disability, Wittwer type",["Wittwer syndrome"]],[85292,"X-linked spinocerebellar ataxia type 4",["SCAX4","X-linked ataxia-dementia syndrome"]],[85293,"X-linked intellectual disability, Cabezas type",["Cabezas syndrome"]],[85294,"X-linked epilepsy-learning disabilities-behavior disorders syndrome"],[85295,"HSD10 disease, atypical type",["HSD10 deficiency, atypical type","Syndromic X-linked intellectual disability type 10","X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome"]],[85297,"X-linked spinocerebellar ataxia type 3",["SCAX3","X-linked ataxia-deafness syndrome","X-linked ataxia-hearing loss syndrome"]],[85317,"X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"],[85318,"OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome"],[85319,"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"],[85320,"X-linked intellectual disability-macrocephaly-macroorchidism syndrome",["Johnson syndrome"]],[85321,"Deafness-intellectual disability syndrome, Martin-Probst type",["Hearing loss-intellectual disability syndrome, Martin-Probst type","Martin-Probst syndrome","X-linked deafness-intellectual disability syndrome","X-linked hearing loss-intellectual disability syndrome"]],[85322,"X-linked intellectual disability, Pai type"],[85323,"X-linked intellectual disability, Seemanova type"],[85324,"X-linked intellectual disability, Shrimpton type",["MRXS9"]],[85325,"X-linked intellectual disability, Stevenson type"],[85326,"X-linked intellectual disability, Stoll type"],[85327,"X-linked intellectual disability-acromegaly-hyperactivity syndrome"],[85328,"X-linked intellectual disability, Turner type"],[85329,"X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"],[85330,"X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome"],[85331,"OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome"],[85332,"X-linked intellectual disability-retinitis pigmentosa syndrome",["Aldred syndrome","Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion","Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)","Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3"]],[85333,"X-linked intellectual disability-spastic paraplegia with iron deposits syndrome",["Arena syndrome"]],[85334,"X-linked neurodegenerative syndrome, Bertini type"],[85335,"Fried syndrome"],[85336,"X-linked neurodegenerative syndrome, Hamel type"],[85337,"X-linked intellectual disability, Zorick type"],[85338,"X-linked intellectual disability-ataxia-apraxia syndrome"],[85408,"Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis",["Juvenile polyarthritis without rheumatoid factor","Juvenile rheumatoid factor-negative polyarthritis","Rheumatoid factor-negative polyarticular JIA"]],[85410,"Oligoarticular juvenile idiopathic arthritis",["Oligoarticular JIA","Pauciarticular chronic arthritis"]],[85414,"Systemic-onset juvenile idiopathic arthritis",["Still disease","Systemic-onset JIA"]],[85435,"Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis",["Juvenile idiopathic rheumatoid factor-positive polyarthritis","Juvenile polyarthritis with rheumatoid factor","Rheumatoid factor-positive polyarticular JIA"]],[85436,"Psoriasis-related juvenile idiopathic arthritis",["Juvenile psoriatic arthritis","Psoriasis-related JIA"]],[85438,"Enthesitis-related juvenile idiopathic arthritis",["Enthesitis-related JIA","Juvenile ERA"]],[85442,"Short stature-pituitary and cerebellar defects-small sella turcica syndrome"],[85443,"AL amyloidosis",["Light-chain amyloidosis"]],[85445,"AA amyloidosis",["Inflammatory amyloidosis","Reactive amyloidosis"]],[85446,"Wild type ABeta2M amyloidosis",["ABeta2Mwt amyloidosis","Dialysis-related amyloidosis","Dialysis-related arthropathy","Wild type ABeta2-microglobulinic amyloidosis"]],[85447,"ATTRV30M amyloidosis",["ATTRV30M-related amyloidosis","Hereditary ATTRV30M-related amyloidosis"]],[85448,"AGel amyloidosis",["Familial amyloid polyneuropathy type IV","Familial amyloidosis, Finnish type","Gelsolin amyloidosis","Hereditary amyloidosis, Finnish type"]],[85450,"Hereditary amyloidosis with primary renal involvement",["Amyloidosis, Ostertag type","Familial amyloid nephropathy","Familial renal amyloidosis","Hereditary amyloid nephropathy","Hereditary renal amyloidosis"]],[85451,"ATTRV122I amyloidosis",["ATTRV122I-related amyloidosis"]],[85453,"X-linked reticulate pigmentary disorder",["XLPDR","Familial cutaneous amyloidosis","PDR","Partington disease","X-linked cutaneous amyloidosis"]],[85458,"Hereditary cerebral amyloid angiopathy",["HCHWA","Hereditary cerebral hemorrhage with amyloidosis"]],[86309,"DPAGT1-CDG",["CDG syndrome type Ij","CDG-Ij","CDG1J","Carbohydrate deficient glycoprotein syndrome type Ij","Congenital disorder of glycosylation type 1j","Congenital disorder of glycosylation type Ij","Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency"]],[86788,"X-linked severe congenital neutropenia"],[86789,"Isolated patella aplasia/hypoplasia",["PTLAH"]],[86795,"Localized lichen myxedematosus",["Papular mucinosis"]],[86797,"Atypical lichen myxedematosus",["Intermediate lichen myxedematosus"]],[86812,"POMT1-related limb-girdle muscular dystrophy R11",["Autosomal recessive limb-girdle muscular dystrophy type 2K","LGMD type 2K","LGMD2K","Limb-girdle muscular dystrophy type 2K","Limb-girdle muscular dystrophy-intellectual disability syndrome","POMT1-related LGMD R11"]],[86813,"Helicoid peripapillary chorioretinal degeneration",["Atrophia areata","SCRA","Sveinsson chorioretinal atrophy"]],[86814,"Familial adult myoclonic epilepsy",["ADCME","Autosomal dominant cortical myoclonus and epilepsy","BAFME","Benign adult familial myoclonus epilepsy","FAME","FCMTE","Familial cortical myoclonic tremor and epilepsy"]],[86815,"Aplasia of lacrimal and salivary glands",["ALSG","Congenital absence of lacrimal puncta and salivary glands"]],[86816,"Congenital analbuminemia"],[86817,"Hemolytic anemia due to adenylate kinase deficiency"],[86818,"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome",["AMME syndrome","ATS-MR","AMME complex"]],[86819,"Atrichia with papular lesions",["Papular atrichia"]],[86820,"Familial avascular necrosis of femoral head",["Familial osteonecrosis of the femoral head"]],[86821,"Lissencephaly type 3-familial fetal akinesia sequence syndrome"],[86822,"Lissencephaly type 3-metacarpal bone dysplasia syndrome"],[86823,"Lissencephaly with cerebellar hypoplasia",["LCH"]],[86829,"Chronic neutrophilic leukemia"],[86830,"Chronic myeloproliferative disease, unclassifiable",["CMPD-U","Undifferentiated myeloproliferative disease"]],[86834,"Juvenile myelomonocytic leukemia",["JMML","Juvenile chronic myelomonocytic leukemia"]],[86836,"Refractory cytopenia with multilineage dysplasia"],[86839,"Myelodysplastic neoplasm with increased blasts",["MDS with excess blasts","MDS-IB","RAEB","Refractory anemia with excess blasts"]],[86841,"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality",["5q- syndrome"]],[86843,"Acute panmyelosis with myelofibrosis",["Acute myelodysplasia with myelofibrosis","Acute myelofibrosis"]],[86845,"Acute myeloid leukaemia with myelodysplasia-related features",["AML with multilineage dysplasia","AML with myelodysplasia-related features","Acute myeloid leukemia with multilineage dysplasia"]],[86846,"Therapy related acute myeloid leukemia and myelodysplastic syndrome",["Secondary AML","Secondary acute myeloid leukemia","Therapy-related AML and myelodysplastic syndrome"]],[86849,"Acute basophilic leukemia"],[86850,"Myeloid sarcoma",["Chloroma","Extramedullary myeloid tumor","Granulocytic sarcoma"]],[86851,"Acute leukemia of ambiguous lineage",["Acute leukemia of indeterminate lineage","Hybrid acute leukemia","Mixed lineage acute leukemia"]],[86852,"B-cell prolymphocytic leukemia",["B-PLL"]],[86854,"Splenic marginal zone lymphoma",["SMZL"]],[86855,"Plasmacytoma",["Solitary plasmacytoma"]],[86861,"Non-amyloid monoclonal immunoglobulin deposition disease",["Non-amyloid MIDD","Randall disease"]],[86864,"Heavy chain disease",["HCD"]],[86867,"Nodal marginal zone B-cell lymphoma",["NMZL"]],[86869,"Lymphomatoid granulomatosis",["LYG"]],[86870,"Blastic plasmacytoid dendritic cell neoplasm",["BPDCN"]],[86871,"T-cell prolymphocytic leukemia",["T-PLL","T-cell chronic lymphocytic leukemia"]],[86872,"T-cell large granular lymphocyte leukemia",["Proliferation of large granular lymphocytes","T-LGL","T-cell LGL leukemia"]],[86873,"Aggressive NK-cell leukemia",["ANKCL","Aggressive NK-cell lymphoma","NK-cell LGL leukemia","NK-cell large granular lymphocyte leukemia"]],[86875,"Adult T-cell leukemia/lymphoma",["ATLL"]],[86879,"Extranodal nasal NK/T cell lymphoma",["Angiocentric T-cell lymphoma","Lethal midline granuloma","NK/T-cell lymphoma","NKTCL","Nasal T/natural killer-cell lymphoma"]],[86880,"Enteropathy-associated T-cell lymphoma",["EATL","ETTL","Enteropathy-associated T-cell lymphoma type 1","Enteropathy-type T-cell lymphoma","Intestinal T-cell lymphoma"]],[86882,"Hepatosplenic T-cell lymphoma"],[86884,"Subcutaneous panniculitis-like T-cell lymphoma",["SPTCL","Subcutaneous panniculitic T-cell lymphoma"]],[86885,"Primary cutaneous peripheral T-cell lymphoma not otherwise specified",["Primary cutaneous peripheral T-cell lymphoma NOS","Primary cutaneous unspecified peripheral T-cell lymphoma"]],[86886,"Angioimmunoblastic T-cell lymphoma",["Immunoblastic lymphadenopathy","Lymphogranulomatosis X","T-cell lymphoma, AILD type","AILT"]],[86893,"Nodular lymphocyte predominant Hodgkin lymphoma",["NLPHL"]],[86896,"Histiocytic sarcoma"],[86897,"Langerhans cell sarcoma"],[86900,"Interdigitating dendritic cell sarcoma",["Interdigitating cell sarcoma","Reticulum cell sarcoma"]],[86902,"Follicular dendritic cell sarcoma"],[86903,"Dendritic cell sarcoma not otherwise specified"],[86904,"Methotrexate-associated lymphoproliferative disorders",["MTX-LPD","MTX-associated lymphoproliferative disorders"]],[86906,"Gelastic seizures with hypothalamic hamartoma",["GS-HH","Hypothalamic hamartoma with gelastic seizures"]],[86908,"Hemiconvulsion-hemiplegia-epilepsy syndrome",["IHHS","HHE","HHE syndrome"]],[86909,"Myoclonic epilepsy of infancy",["Benign myoclonic epilepsy of infancy","Benign myoclonus epilepsy of infancy","MEI"]],[86911,"Epilepsy with myoclonic absences"],[86913,"OBSOLETE: Myoclonic epilepsy in non-progressive encephalopathies",["OBSOLETE: Myoclonic status in non-progressive encephalopathies","OBSOLETE: Myoclonus epilepsy in non-progressive encephalopathies"]],[86914,"Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome"],[86915,"Lymphedema-atrial septal defects-facial changes syndrome",["Irons-Bhan syndrome","Irons-Bianchi syndrome"]],[86917,"OBSOLETE: Lymphedema-cleft palate syndrome"],[86918,"Diffuse palmoplantar keratoderma-acrocyanosis syndrome",["Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome"]],[86919,"Keratosis palmaris et plantaris-clinodactyly syndrome",["Palmoplantar keratoderma-clinodactyly syndrome"]],[86920,"Dermatopathia pigmentosa reticularis"],[86923,"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type",["Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type","PPK, Gamborg-Nielsen type"]],[87277,"Rare intellectual disability"],[87503,"Mal de Meleda",["Meleda disease"]],[87876,"Sialidosis type 2",["Infantile dysmorphic sialidosis"]],[87884,"Rare non-syndromic genetic deafness",["Rare isolated genetic deafness","Rare isolated genetic hearing loss","Rare non-syndromic genetic hearing loss"]],[88616,"Autosomal recessive non-syndromic intellectual disability",["AR-NSID","NS-ARID"]],[88618,"S-adenosylhomocysteine hydrolase deficiency"],[88619,"Familial acute necrotizing encephalopathy",["ADANE","Recurrent acute necrotizing encephalopathy"]],[88620,"Isolated congenital anosmia"],[88621,"Ichthyosis-prematurity syndrome",["Congenital ichthyosis type 4","IPS"]],[88628,"Posterior column ataxia-retinitis pigmentosa syndrome",["Autosomal recessive posterior column ataxia and retinitis pigmentosa","PCARP"]],[88629,"Tritanopia",["Blue colour blindness","Congenital tritanopia","Tritan colour blindness"]],[88630,"Terminal osseous dysplasia-pigmentary defects syndrome"],[88632,"Anterior segment developmental anomaly",["Anterior segment dysgenesis"]],[88633,"Superior limbic keratoconjunctivitis",["SLK","Theodore superior limbic keratoconjunctivitis","Theodore syndrome"]],[88635,"Vacuolar myopathy with sarcoplasmic reticulum protein aggregates",["Myopathy due to calsequestrin and SERCA1 protein overload","Vacuolar aggregate myopathy"]],[88636,"Aortic dilatation-joint hypermobility-arterial tortuosity syndrome"],[88637,"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome",["4H syndrome"]],[88639,"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency",["HIBCH deficiency","Methacrylic aciduria","Valine metabolic defect"]],[88642,"Congenital insensitivity to pain-anosmia-neuropathic arthropathy",["SCN9A-related congenital insensitivity to pain"]],[88643,"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"],[88644,"Autosomal recessive ataxia, Beauce type",["ARCA1","Autosomal recessive cerebellar ataxia type 1","SCAR8"]],[88659,"Autosomal dominant progressive nephropathy with hypertension"],[88660,"Hypertension due to gain-of-function mutations in the mineralocorticoid receptor",["Early-onset hypertension with exacerbation in pregnancy","Pseudohyperaldosteronism type 2"]],[88661,"Amelogenesis imperfecta"],[88673,"Hepatocellular carcinoma",["HCC"]],[88917,"X-linked Alport syndrome"],[88918,"Autosomal dominant Alport syndrome"],[88919,"Autosomal recessive Alport syndrome"],[88924,"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis",["PKDTS","TSC2/PKD1 contiguous gene syndrome","Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome"]],[88938,"Pseudohypoaldosteronism type 2A",["PHA2A"]],[88939,"Pseudohypoaldosteronism type 2B",["PHA2B"]],[88940,"Pseudohypoaldosteronism type 2C",["PHA2C"]],[88949,"MUC1-related autosomal dominant tubulointerstitial kidney disease",["ADTKD-MUC1","MCKD1","MUC1-related medullary cystic kidney disease","MUCI-related ADTKD","Medullary cystic kidney disease type 1"]],[88950,"UMOD-related autosomal dominant tubulointerstitial kidney disease",["ADTKD-UMOD","Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation","Familial juvenile hyperuricemic nephropathy type 1","MCKD2","Medullary cystic kidney disease type 2","UAKD","UMOD kidney disease","UMOD-related ADTKD","Uromodulin-associated kidney disease"]],[88991,"Rare congenital heart disease",["CHD","Rare congenital non-syndromic heart malformation"]],[88993,"Esophageal malformation",["Malformation of the esophagus"]],[89043,"Rare dementia"],[89826,"Rare skin disease"],[89832,"OBSOLETE: Syndromic lymphedema"],[89833,"Palmoplantar keratoderma with tonotubular keratin"],[89838,"Autosomal recessive generalized epidermolysis bullosa simplex",["Autosomal recessive generalized EBS"]],[89839,"OBSOLETE: Epidermolysis bullosa simplex superficialis",["OBSOLETE: EBSS"]],[89840,"OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type",["OBSOLETE: JEN-nH"]],[89841,"OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa",["OBSOLETE: Centripetal dystrophic epidermolysis bullosa","OBSOLETE: Centripetal recessive dystrophic epidermolysis bullosa","OBSOLETE: RDEB, centripetalis"]],[89842,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",["Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis","Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type","Generalized RDEB, intermediate form","RDEB, non-Hallopeau-Siemens type"]],[89843,"Dystrophic epidermolysis bullosa pruriginosa",["DEB pruriginosa","DEB-Pr","Pruriginous dystrophic epidermolysis bullosa"]],[89844,"Lissencephaly syndrome, Norman-Roberts type",["Microlissencephaly type A"]],[89845,"OBSOLETE: Idiopathic hydrops fetalis"],[89936,"X-linked hypophosphatemia",["X-linked hypophosphatemic rickets","XLH"]],[89937,"Autosomal dominant hypophosphatemic rickets",["ADHR","Autosomal dominant hypophosphatemia"]],[89938,"Bartter syndrome type 4",["Bartter syndrome type IV","Bartter syndrome with sensorineural deafness","Bartter syndrome with sensorineural hearing loss"]],[89939,"NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis",["NON RARE IN EUROPE: Renal tubular acidosis type 4"]],[90000,"Erythema elevatum diutinum"],[90001,"X-linked cone dysfunction syndrome with myopia",["Bornholm eye disease"]],[90002,"Undifferentiated connective tissue syndrome",["UCTD"]],[90003,"Inflammatory pseudotumor of the liver"],[90020,"Parkinson-dementia complex of Guam",["G-PDC","Guam disease","Guam parkinsonism-dementia complex","Lytico-Bodig disease"]],[90021,"Radiation myelitis"],[90022,"OBSOLETE: Cardiomyopathy-renal anomalies syndrome"],[90023,"Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency",["Primary immunodeficiency syndrome due to LAMTOR2 deficiency","Primary immunodeficiency syndrome due to P14 deficiency","Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency"]],[90024,"Deafness with labyrinthine aplasia, microtia, and microdontia",["Hearing loss with labyrinthine aplasia, microtia, and microdontia","LAMM syndrome","Microdontia-type I microtia-deafness syndrome","Microdontia-type I microtia-hearing loss syndrome"]],[90025,"Non-syndromic syndactyly"],[90026,"Primary erythromelalgia",["Primary erythermalgia"]],[90030,"Hemolytic anemia due to glutathione reductase deficiency"],[90031,"Non-spherocytic hemolytic anemia due to hexokinase deficiency"],[90033,"Autoimmune hemolytic anemia, warm type",["Warm AIHA","wAHA","wAIHA"]],[90035,"Paroxysmal cold hemoglobinuria",["Donath-Landsteiner hemolytic anemia","Donath-Landsteiner syndrome","PCH"]],[90036,"Mixed-type autoimmune hemolytic anemia",["Mixed AIHA"]],[90037,"Drug-induced autoimmune hemolytic anemia",["Drug-induced AIHA"]],[90038,"Shiga toxin-associated hemolytic uremic syndrome",["D+ HUS","EHEC-HUS","Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli","Hemolytic uremic syndrome with diarrhea","STEC-HUS","Shiga-like toxin-associated HUS","Stx-HUS","Typical HUS","Typical hemolytic uremic syndrome"]],[90039,"Hemoglobin D disease"],[90041,"OBSOLETE: Gaisböck syndrome",["OBSOLETE: Stress erythrocytosis","OBSOLETE: Stress polycythemia"]],[90042,"Primary familial and congenital erythrocytosis",["Primary hereditary and congenital polycythemia","Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation","PFCE","PFCP","Primary hereditary and congenital erythrocytosis","Primary familial and congenital polycythemia","Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation","Primary familial and congenital polycythemia due to erythropoietin receptor mutation","Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation"]],[90044,"Familial pseudohyperkalemia"],[90045,"Hereditary folate malabsorption",["Congenital folate malabsorption"]],[90050,"Retinopathy of prematurity",["ROP","Retrolental fibroplasia"]],[90051,"Sepsis in premature infants"],[90052,"Recurrent hepatitis C virus induced liver disease in liver transplant recipients"],[90053,"Complications after hematopoietic stem cell transplantation",["Complications after HSCT"]],[90055,"OBSOLETE: Rejection after corneal transplantation"],[90056,"Moderate and severe traumatic brain injury"],[90058,"Spinal cord injury"],[90059,"Sudden sensorineural hearing loss",["Secondary acute sensorineural hearing loss"]],[90060,"Diffuse alveolar hemorrhage"],[90061,"Non-infectious posterior uveitis",["Non-infectious choroiditis"]],[90062,"Acute liver failure",["Acute hepatic failure","Fulminant hepatic failure"]],[90064,"Acute peripheral arterial occlusion"],[90065,"Acquired aneurysmal subarachnoid hemorrhage"],[90066,"Pneumonia caused by Pseudomonas aeruginosa infection"],[90068,"Cocaine intoxication"],[90069,"Systemic monochloroacetate poisoning"],[90070,"OBSOLETE: Methotrexate poisoning",["OBSOLETE: Methotrexate intoxication"]],[90073,"Hepatitis B reinfection following liver transplantation"],[90076,"Partial deep dermal and full thickness burns"],[90077,"Other acquired skin disease"],[90078,"Invasive infections due to vancomycin-resistant enterococci",["Invasive infections due to VRE"]],[90079,"OBSOLETE: Anthracycline extravasation"],[90080,"Scarring in glaucoma filtration surgical procedures"],[90081,"AIDS wasting syndrome"],[90103,"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome",["CMT-deafness-intellectual disability syndrome","Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome","Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers","Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers"]],[90114,"Autosomal dominant intermediate Charcot-Marie-Tooth disease",["CMTDI"]],[90117,"Hereditary motor and sensory neuropathy, Okinawa type",["HMSNP","Hereditary motor and sensory neuropathy, proximal type"]],[90118,"Severe early-onset axonal neuropathy due to MFN2 deficiency",["AR-CMT2, Ouvrier type","Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type","SEOAN due to MFN2 deficiency"]],[90119,"Hereditary motor and sensory neuropathy with acrodystrophy",["AR-CMT2 with acrodystrophy","Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy","Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy","HMSN with acrodystrophy"]],[90120,"Hereditary motor and sensory neuropathy type 6",["CMT6","Charcot-Marie-Tooth disease type 6","HMSN 6","HMSN VI","Hereditary motor and sensory neuropathy type VI","Peripheral neuropathy and optic atrophy"]],[90153,"Mandibuloacral dysplasia with type A lipodystrophy",["MADA"]],[90154,"Mandibuloacral dysplasia with type B lipodystrophy"],[90156,"Centrifugal lipodystrophy",["Lipodystrophia centrifugalis abdominalis infantilis"]],[90157,"Drug-induced localized lipodystrophy",["Lipoatrophy caused by injected drug"]],[90158,"Idiopathic localized lipodystrophy"],[90159,"Panniculitis-induced localized lipodystrophy"],[90160,"Pressure-induced localized lipoatrophy",["Lipoatrophia semicircularis","Semicircular lipoatrophy"]],[90185,"Non-hereditary late-onset primary lymphedema",["Meige-like disease"]],[90186,"Meige disease",["Hereditary lymphedema type II","Meige lymphedema"]],[90280,"Chilblain lupus"],[90281,"Discoid lupus erythematosus"],[90282,"Hypertrophic or verrucous lupus erythematosus"],[90283,"Lupus erythematosus tumidus",["Intermittent cutaneous lupus"]],[90285,"Lupus erythematosus panniculitis",["Lupus erythematosus profundus"]],[90287,"OBSOLETE: Maculopapular lupus rash"],[90289,"Localized scleroderma",["Localized fibrosing scleroderma"]],[90290,"CREST syndrome",["Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome"]],[90291,"Systemic sclerosis",["Systemic scleroderma"]],[90301,"Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"],[90307,"Parkes Weber syndrome"],[90308,"Capillary-lymphatic-venous malformation with segmental distribution",["CLVM with segmental distribution","KTS","Klippel-Trénaunay syndrome"]],[90309,"OBSOLETE: Ehlers-Danlos syndrome type 1",["OBSOLETE: EDS I"]],[90318,"OBSOLETE: Ehlers-Danlos syndrome type 2",["OBSOLETE: EDS II"]],[90321,"Cockayne syndrome type 1",["Cockayne syndrome type I"]],[90322,"Cockayne syndrome type 2",["Cockayne syndrome type II"]],[90324,"Cockayne syndrome type 3",["Cockayne syndrome type III"]],[90338,"Margarita island ectodermal dysplasia"],[90339,"OBSOLETE: Rosselli-Gulienetti syndrome"],[90340,"Blau syndrome"],[90341,"Early-onset sarcoidosis"],[90342,"Xeroderma pigmentosum variant",["XPV"]],[90345,"OBSOLETE: Unclassified metaphyseal chondrodysplasia"],[90348,"Autosomal dominant cutis laxa",["ADCL"]],[90349,"Autosomal recessive cutis laxa type 1",["ARCL1","Autosomal recessive cutis laxa with severe systemic involvement","Autosomal recessive cutis laxa, pulmonary emphysema type"]],[90350,"Autosomal recessive cutis laxa type 2",["ARCL2","Cutis laxa with joint laxity and developmental delay"]],[90354,"Brittle cornea syndrome",["Ehlers-Danlos syndrome type 6B"]],[90362,"Primary intestinal lymphangiectasia",["Waldmann disease"]],[90363,"Secondary intestinal lymphangiectasia"],[90368,"Hypotrichosis simplex of the scalp",["Hereditary hypotrichosis simplex of the scalp"]],[90389,"Telangiectasia macularis eruptiva perstans"],[90390,"Anonychia-onychodystrophy syndrome"],[90393,"Nodular lichen myxedematosus",["Atypical tuberous myxedema of Jadassohn-Dosseker"]],[90394,"Discrete papular lichen myxedematosus"],[90395,"Papular mucinosis of infancy",["Cutaneous mucinosis of infancy"]],[90396,"Acral persistent papular mucinosis"],[90397,"Self-healing papular mucinosis"],[90398,"Localized lichen myxedematosus with mixed features of different subtypes"],[90399,"Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms"],[90400,"Scleromyxedema without monoclonal gammopathy"],[90625,"X-linked non-syndromic genetic deafness",["X-linked non-syndromic sensorineural deafness","X-linked non-syndromic sensorineural hearing loss","Non-syndromic genetic DFNX","X-linked isolated neurosensory deafness","X-linked isolated neurosensory hearing loss","X-linked isolated sensorineural deafness","X-linked isolated sensorineural hearing loss","X-linked non-syndromic genetic hearing loss","X-linked non-syndromic neurosensory deafness","X-linked non-syndromic neurosensory hearing loss"]],[90635,"Autosomal dominant non-syndromic genetic deafness",["Autosomal dominant non-syndromic neurosensory hearing loss","Autosomal dominant non-syndromic sensorineural deafness","Autosomal dominant non-syndromic sensorineural hearing loss","Non-syndromic genetic DFNA","Autosomal dominant isolated neurosensory deafness","Autosomal dominant isolated neurosensory hearing loss","Autosomal dominant isolated sensorineural deafness","Autosomal dominant isolated sensorineural hearing loss","Autosomal dominant non-syndromic genetic hearing loss","Autosomal dominant non-syndromic neurosensory deafness"]],[90636,"Autosomal recessive non-syndromic genetic deafness",["Autosomal recessive isolated neurosensory deafness","Autosomal recessive isolated neurosensory hearing loss","Autosomal recessive isolated sensorineural deafness","Autosomal recessive isolated sensorineural hearing loss","Autosomal recessive non-syndromic genetic hearing loss","Autosomal recessive non-syndromic neurosensory deafness","Autosomal recessive non-syndromic neurosensory hearing loss","Autosomal recessive non-syndromic sensorineural deafness","Autosomal recessive non-syndromic sensorineural hearing loss","Non-syndromic genetic DFNB"]],[90641,"Mitochondrial non-syndromic sensorineural deafness",["Isolated mitochondrial neurosensory deafness","Isolated mitochondrial neurosensory hearing loss","Isolated mitochondrial sensorineural deafness","Isolated mitochondrial sensorineural hearing loss","Mitochondrial non-syndromic neurosensory deafness","Mitochondrial non-syndromic neurosensory hearing loss","Mitochondrial non-syndromic sensorineural hearing loss"]],[90642,"Rare syndromic genetic deafness",["Rare syndromic genetic hearing loss"]],[90646,"Deafness-hypogonadism syndrome",["Hearing loss-hypogonadism syndrome"]],[90647,"Jervell and Lange-Nielsen syndrome",["Long QT interval-deafness syndrome","Long QT interval-hearing loss syndrome"]],[90649,"Orofaciodigital syndrome type 7",["OFD7","Oral-facial-digital syndrome type 7","Whelan syndrome"]],[90650,"Otopalatodigital syndrome type 1",["OPD I syndrome","OPD syndrome 1","Taybi syndrome"]],[90652,"Otopalatodigital syndrome type 2",["OPD II syndrome","OPD syndrome 2"]],[90653,"Stickler syndrome type 1"],[90654,"Stickler syndrome type 2"],[90658,"Charcot-Marie-Tooth disease type 1E",["CMT1E","Charcot-Marie-Tooth disease-deafness syndrome","Charcot-Marie-Tooth disease-hearing loss syndrome"]],[90673,"Hypothyroidism due to TSH receptor mutations"],[90674,"Isolated thyroid-stimulating hormone deficiency",["Isolated TSH deficiency","Isolated thyrotropin deficiency"]],[90692,"Rare endocrine growth disease"],[90695,"Non-acquired panhypopituitarism",["Genetic panhypopituitarism"]],[90771,"Difference of sex development",["DSD","Disorder of sex development"]],[90776,"46,XX difference of sex development induced by fetal androgens excess",["46,XX DSD induced by fetal androgens excess","46,XX disorder of sex development induced by fetal androgens excess"]],[90783,"46,XY difference of sex development due to a testosterone synthesis defect",["46,XY DSD due to a testosterone synthesis defect","46,XY disorder of sex development due to a testosterone synthesis defect"]],[90786,"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect",["46,XY DSD due to adrenal and testicular steroidogenesis defect","46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect"]],[90787,"46,XY difference of sex development due to testicular steroidogenesis defect",["46,XY DSD due to testicular steroidogenesis defect","46,XY disorder of sex development due to testicular steroidogenesis defect"]],[90790,"Congenital lipoid adrenal hyperplasia due to STAR deficency",["CLAH","LCAH","Lipoid CAH"]],[90791,"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency",["CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency"]],[90793,"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency",["CAH due to 17-alpha-hydroxylase deficiency","Combined 17-hydroxylase/17,20-lyase deficiency"]],[90794,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",["Classic 21-OHD CAH"]],[90795,"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency",["CAH due to 11-beta-hydroxylase deficiency","CYP11B1 deficiency"]],[90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",["46,XY disorder of sex development due to isolated 17,20-lyase deficiency"]],[90797,"Partial androgen insensitivity syndrome",["PAIS","Partial androgen resistance syndrome"]],[90970,"Primary lipodystrophy"],[91024,"Autosomal recessive axonal hereditary motor and sensory neuropathy",["AR-CMT2","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2"]],[91088,"Other metabolic disease"],[91127,"Adenovirus infection in immunocompromised patients"],[91128,"OBSOLETE: Graft rejection after lung transplantation"],[91129,"Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome"],[91130,"Cardiomyopathy-hypotonia-lactic acidosis syndrome"],[91131,"DK1-CDG",["CDG syndrome type Im","CDG-Im","CDG1M","Carbohydrate deficient glycoprotein syndrome type Im","Congenital disorder of glycosylation type 1m","Congenital disorder of glycosylation type Im","Dolichol kinase deficiency","Hypotonia and ichthyosis due to dolichol phosphate deficiency"]],[91132,"Ichthyosis-hypotrichosis syndrome",["Hypotrichosis-congenital ichthyosis syndrome","IFAH syndrome","IHS","Ichthyosis-follicular atrophoderma-hypotrichosis syndrome","Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome"]],[91133,"OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome",["OBSOLETE: Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome"]],[91135,"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency",["PXE-like syndrome","Pseudoxanthoma elasticum-like syndrome"]],[91136,"Acquired monoclonal Ig light chain-associated Fanconi syndrome",["Acquired Fanconi syndrome secondary to monoclonal gammopathy","Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome"]],[91137,"Immunotactoid or fibrillary glomerulopathy",["Immunotactoid or fibrillary glomerulonephritis"]],[91138,"Cryoglobulinemic vasculitis",["Essential cryoglobulinemia","Essential mixed cryoglobulinemia","Mixed cryoglobulinemia","Primary cryoglobulinemia"]],[91139,"Simple cryoglobulinemia",["Cryoglobulinemia type 1"]],[91140,"Unspecified juvenile idiopathic arthritis",["Unspecified JIA"]],[91144,"46,XX difference of sex development induced by maternal-derived androgen",["46,XX DSD induced by maternal-derived androgen","46,XX disorder of sex development induced by maternal-derived androgen"]],[91347,"TSH-secreting pituitary adenoma",["Thyrotroph adenoma","Pituitary thyrotrophic adenoma","TSH-oma","Thyroid stimulating hormone-secreting pituitary adenoma"]],[91348,"Functioning gonadotropic adenoma",["Functioning pituitary gonadotropic adenoma","Gonadotroph adenoma"]],[91349,"Non-functioning pituitary adenoma",["NFPA"]],[91350,"Pituitary deficiency due to Rathke cleft cysts"],[91351,"Pituitary dermoid and epidermoid cysts"],[91352,"Germinoma of the central nervous system"],[91353,"OBSOLETE: Choristoma"],[91354,"Pituitary deficiency due to empty sella turcica syndrome",["Hypopituitarism due to empty sella turcica syndrome"]],[91355,"Sheehan syndrome"],[91357,"Duplication of the esophagus"],[91358,"Congenital esophageal diverticulum",["Congenital esophageal pouch"]],[91359,"Chronic pneumonitis of infancy",["CPI"]],[91364,"Non-specific interstitial pneumonia",["NSIP","Non-specific idiopathic interstitial pneumonia"]],[91365,"OBSOLETE: Secondary ciliary dyskinesia",["OBSOLETE: Acquired ciliary dyskinesia"]],[91378,"Hereditary angioedema",["Familial angioneurotic edema","HAE","Hereditary angioneurotic edema","Hereditary bradykinine-induced angioedema","Hereditary non histamine-induced angioedema"]],[91385,"Acquired angioedema",["AAE","Acquired C1 inhibitor deficiency","Acquired angioneurotic edema","Acquired bradykinine-induced angioedema","Acquired non histamine-induced angioedema"]],[91387,"Familial thoracic aortic aneurysm and aortic dissection",["FTAAD","Familial TAAD","Familial non-syndromic thoracic aortic aneurysm and aortic dissection","Hereditary TAAD","Hereditary thoracic aortic aneurysm and aortic dissection","Non-syndromic heritable thoracic aortic disease"]],[91396,"Isolated cryptophthalmia"],[91397,"Isolated ankyloblepharon filiforme adnatum"],[91411,"Congenital ptosis"],[91412,"Marcus-Gunn syndrome",["Jaw-winking syndrome","Mandibulo-palpebral synkinesis-ptosis syndrome","Marcus-Gunn phenomenon"]],[91413,"Congenital Horner syndrome",["Congenital Claude-Bernard-Horner syndrome"]],[91414,"Pilomatrixoma",["Epithelioma calcificans of Malherbe","Pilomatricoma"]],[91415,"OBSOLETE: Familial capillary hemangioma"],[91416,"Isolated congenital alacrima"],[91481,"Ring dermoid of cornea",["Ring dermoid syndrome"]],[91483,"Rieger anomaly"],[91489,"Isolated congenital megalocornea",["Congenital anterior megalophthalmia"]],[91490,"Isolated congenital sclerocornea"],[91491,"Congenital ectropion uveae"],[91492,"Early onset non-syndromic cataract"],[91494,"Macular coloboma-cleft palate-hallux valgus syndrome"],[91495,"Persistent hyperplastic primary vitreous",["Congenital retinal detachment","NCRNA disease","Non-syndromic congenital retinal non-attachment","PFVS","PHPV","Persistent fetal vasculature syndrome"]],[91496,"Snowflake vitreoretinal degeneration"],[91498,"Familial congenital palsy of trochlear nerve"],[91500,"Tubulointerstitial nephritis and uveitis syndrome",["Dobrin syndrome","TINU syndrome"]],[91546,"Lyme disease",["Lyme borreliosis"]],[91547,"Relapsing fever"],[92050,"Congenital tufting enteropathy",["IED","Intestinal epithelial dysplasia"]],[93100,"Renal agenesis, unilateral"],[93101,"Renal hypoplasia"],[93108,"Renal dysplasia",["Kidney dysplasia"]],[93109,"Congenital megacalycosis"],[93110,"Posterior urethral valve",["PUV"]],[93111,"HNF1B-related autosomal dominant tubulointerstitial kidney disease",["ADTKD-HNF1B","HNF1B-MODY","HNF1B-related nephropathy","MODY5","Maturity-onset diabetes of the young type 5","RCAD syndrome","Renal cysts and diabetes syndrome","Renal dysfunction-early-onset diabetes syndrome"]],[93114,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type E",["CMTDIE","Charcot-Marie-Tooth disease-nephropathy syndrome"]],[93126,"Pauci-immune glomerulonephritis"],[93160,"Hypocalcemic vitamin D-resistant rickets",["HVDRR","Hereditary vitamin D-resistant rickets","VDDR II","VDRR II","Vitamin D-dependent rickets type II","Vitamin D-resistant rickets type II"]],[93164,"Transient pseudohypoaldosteronism",["Secondary pseudohypoaldosteronism","TPHA"]],[93172,"Renal dysplasia, unilateral",["Kidney dysplasia, unilateral"]],[93173,"Renal dysplasia, bilateral",["Kidney dysplasia, bilateral"]],[93176,"Unilateral congenital megacalycosis"],[93177,"Congenital bilateral megacalycosis"],[93178,"OBSOLETE: Partial prune belly syndrome"],[93206,"OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis",["OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis"]],[93207,"OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change",["OBSOLETE: Steroid-sensitive MCNS"]],[93209,"OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation"],[93213,"OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis",["OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis"]],[93214,"OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation"],[93216,"OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes"],[93217,"OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis"],[93218,"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis",["OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis"]],[93220,"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis"],[93221,"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes"],[93222,"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation"],[93256,"Fragile X-associated tremor/ataxia syndrome",["FXTAS syndrome"]],[93258,"Pfeiffer syndrome type 1",["Classic Pfeiffer syndrome"]],[93259,"Pfeiffer syndrome type 2"],[93260,"Pfeiffer syndrome type 3"],[93262,"Crouzon syndrome-acanthosis nigricans syndrome",["Crouzon-dermoskeletal syndrome"]],[93267,"Cloverleaf skull-multiple congenital anomalies syndrome"],[93268,"Short rib-polydactyly syndrome, Beemer-Langer type",["Short rib-polydactyly syndrome type 4"]],[93269,"Short rib-polydactyly syndrome, Majewski type",["Short rib-polydactyly syndrome type 2"]],[93270,"Short rib-polydactyly syndrome, Saldino-Noonan type",["Short rib-polydactyly syndrome type 1"]],[93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",["Short rib-polydactyly syndrome type 3"]],[93274,"Thanatophoric dysplasia type 2",["Cloverleaf skull-micromelic bone dysplasia syndrome","TD2","Thanatophoric dwarfism type 2","Thanatophoric dwarfism-cloverleaf skull syndrome"]],[93275,"Thanatophoric dysplasia, Glasgow variant"],[93276,"Polyostotic fibrous dysplasia"],[93277,"Monostotic fibrous dysplasia",["Jaffe-Lichtenstein disease"]],[93279,"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"],[93280,"Spondyloepiphyseal dysplasia, Omani type"],[93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",["Spondyloepimetaphyseal dysplasia, Pakistani type"]],[93283,"Spondyloepiphyseal dysplasia, Kimberley type"],[93284,"Spondyloepiphyseal dysplasia tarda"],[93292,"Adenoma of pancreas",["Pancreatic adenoma"]],[93293,"Okihiro syndrome",["Duane-radial ray syndrome"]],[93296,"Achondrogenesis type 2",["Achondrogenesis, Langer-Saldino type"]],[93297,"Hypochondrogenesis"],[93298,"Achondrogenesis type 1B",["Achondrogenesis, Parenti-Fraccaro type"]],[93299,"Achondrogenesis type 1A",["Achondrogenesis, Houston-Harris type"]],[93301,"Brachyolmia type 1, Hobaek type"],[93302,"Brachyolmia, Maroteaux type",["Brachyolmia type 2"]],[93303,"Brachyolmia type 1, Toledo type"],[93304,"Autosomal dominant brachyolmia",["Brachyolmia type 3"]],[93307,"Multiple epiphyseal dysplasia type 4",["Autosomal recessive multiple epiphyseal dysplasia","EDM4","MED4","Polyepiphyseal dysplasia type 4","rMED"]],[93308,"Multiple epiphyseal dysplasia type 1",["EDM1","MED1","Polyepiphyseal dysplasia type 1"]],[93311,"Multiple epiphyseal dysplasia type 5",["BHMED","Bilateral hereditary micro-epiphyseal dysplasia","EDM5","MED5","Polyepiphyseal dysplasia type 5"]],[93313,"OBSOLETE: Multiple epiphyseal dysplasia, unclassified type"],[93314,"Spondylometaphyseal dysplasia, Kozlowski type"],[93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",["Spondylometaphyseal dysplasia, Sutcliffe type"]],[93316,"Spondylometaphyseal dysplasia, Schmidt type",["Spondylometaphyseal dysplasia with severe genu valgum","Spondylometaphyseal dysplasia, Algerian type"]],[93317,"Spondylometaphyseal dysplasia, Sedaghatian type"],[93320,"Isolated ulnar hemimelia",["Isolated congenital longitudinal deficiency of the ulna","Isolated ulnar clubhand","Isolated ulnar deficiency of forearm","Isolated ulnar longitudinal meromelia"]],[93321,"Isolated radial hemimelia",["Isolated congenital longitudinal deficiency of the radius","Isolated radial club hand","Isolated radial longitidinal meromelia","Isolated radial ray agenesis"]],[93322,"Isolated tibial hemimelia",["Isolated congenital absence of tibia","Isolated congenital aplasia and dysplasia of the tibia with intact fibula","Isolated congenital longitudinal deficiency of the tibia","Isolated tibial longitudinal meromelia"]],[93323,"Isolated fibular hemimelia",["Isolated congenital longitudinal deficiency of the fibula","Isolated fibular deficiency","Isolated fibular longitudinal meromelia"]],[93324,"Autosomal recessive Kenny-Caffey syndrome"],[93325,"Autosomal dominant Kenny-Caffey syndrome"],[93328,"Autosomal dominant omodysplasia"],[93329,"Autosomal recessive omodysplasia",["Micromelic dysplasia-dislocation of radius syndrome"]],[93333,"Pelviscapular dysplasia",["Cousin syndrome","Familial pelvis-scapular dysplasia"]],[93334,"Postaxial polydactyly type A"],[93335,"Postaxial polydactyly type B"],[93336,"Polydactyly of a triphalangeal thumb",["PPD2","Preaxial polydactyly type 2"]],[93337,"Polydactyly of an index finger",["PPD3","Preaxial polydactyly type 3"]],[93338,"Polysyndactyly",["PPD4","Preaxial polydactyly type 4"]],[93339,"Polydactyly of a biphalangeal thumb and/or hallux",["PPD1","Preaxial polydactyly type 1"]],[93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type"],[93347,"Anauxetic dysplasia",["Spondyloepimetaphyseal dysplasia, Menger type","Spondyloepimetaphyseal dysplasia, anauxetic type"]],[93349,"X-linked spondyloepimetaphyseal dysplasia"],[93351,"Spondyloepimetaphyseal dysplasia, Irapa type",["SEMD, Irapa type"]],[93352,"Spondyloepimetaphyseal dysplasia, Shohat type",["SEMD, Shohat type"]],[93356,"Spondyloepimetaphyseal dysplasia, Missouri type",["SEMD type 2","SEMD, Missouri type","Spondyloepimetaphyseal dysplasia type 2"]],[93357,"SPONASTRIME dysplasia",["Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia","Spondyloepimetaphyseal dysplasia, Sponastrime type"]],[93358,"Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"],[93359,"OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity"],[93360,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",["SEMD-MD","SEMDJL2","Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type","Spondyloepimetaphyseal dysplasia with joint laxity type 2","Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type"]],[93365,"OBSOLETE: CINCA syndrome with NLRP3 mutations"],[93367,"OBSOLETE: CINCA syndrome without NLRP3 mutations"],[93372,"Familial hypocalciuric hypercalcemia type 1",["FHH type 1"]],[93382,"Brachydactyly type A6",["Acromesomelic dysplasia, Osebold-Remondini type","Osebold-Remondini syndrome"]],[93383,"Brachydactyly type B"],[93384,"Brachydactyly type C"],[93385,"NON RARE IN EUROPE: Brachydactyly type D"],[93387,"Brachydactyly type E"],[93388,"Brachydactyly type A1",["Brachydactyly, Farabee type"]],[93389,"Brachydactyly type A5"],[93393,"NON RARE IN EUROPE: Brachydactyly type A3",["NON RARE IN EUROPE: Brachydactyly-clinodactyly","NON RARE IN EUROPE: Brachymesophalangy V"]],[93394,"Brachydactyly type A4",["Brachydactyly, Temtamy type","Brachymesophalangy II and V"]],[93395,"Ballard syndrome",["Brachydactyly, combined B and E types","Pitt-Williams brachydactyly"]],[93396,"Brachydactyly type A2",["Brachydactyly, Mohr-Wriedt type"]],[93397,"Brachydactyly type A7",["Brachydactyly, Smorgasbord type"]],[93398,"Genochondromatosis type 2"],[93399,"Juvenile sialidosis type 2"],[93400,"Congenital sialidosis type 2"],[93402,"Syndactyly type 1"],[93403,"Syndactyly type 2",["Synpolydactyly"]],[93404,"Syndactyly type 3",["SD3","Syndactyly of fingers 4 and 5"]],[93405,"Syndactyly type 4",["Polysyndactyly, Haas type"]],[93406,"Syndactyly type 5",["Postaxial syndactyly with metacarpal synostosis","SD5"]],[93409,"Brachydactyly-syndactyly, Zhao type"],[93419,"Rare bone disease"],[93420,"FGFR3-related chondrodysplasia"],[93421,"Type 2 collagen-related bone disorder"],[93422,"Type 11 collagen-related bone disorder"],[93423,"Sulfation-related bone disorder"],[93424,"OBSOLETE: Perlecan-related bone disorder"],[93425,"Filamin-related bone disorder",["Bone filaminopathy"]],[93426,"Ciliopathies with major skeletal involvement",["SRP","Short rib dysplasia"]],[93427,"OBSOLETE: Metatropic dysplasias"],[93429,"Multiple epiphyseal dysplasia and pseudoachondroplasia"],[93430,"Multiple metaphyseal dysplasia"],[93434,"Spondylodysplastic dysplasia"],[93435,"OBSOLETE: Moderate spondylodysplastic dysplasia"],[93436,"Acromelic dysplasia"],[93437,"Acromesomelic dysplasia"],[93438,"Mesomelic and rhizo-mesomelic dysplasia"],[93439,"Campomelic dysplasia and related disorders",["Bent bone dysplasia"]],[93440,"Slender bone dysplasia"],[93441,"Primary bone dysplasia with multiple joint dislocations",["Primary osteodysplasia with multiple joint dislocations","Primary skeletal dysplasia with multiple joint dislocations"]],[93442,"Chondrodysplasia punctata",["CDP"]],[93443,"Neonatal osteosclerotic dysplasia"],[93444,"Primary bone dysplasia with increased bone density",["Primary osteodysplasia with increased bone density","Primary skeletal dysplasia with increased bone density","Sclerosing bone dysplasia"]],[93445,"OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement"],[93446,"Primary bone dysplasia with decreased bone density",["Primary osteodysplasia with decreased bone density","Primary skeletal dysplasia with decreased bone density"]],[93447,"Primary bone dysplasia with defective bone mineralization",["Primary osteodysplasia with defective bone mineralization","Primary skeletal dysplasia with defective bone mineralization"]],[93448,"Lysosomal storage disease with skeletal involvement",["Dysostosis multiplex"]],[93449,"Primary osteolysis"],[93450,"Primary bone dysplasia with disorganized development of skeletal components",["Primary osteodysplasia with disorganized development of skeletal components","Primary skeletal dysplasia with disorganized development of skeletal components"]],[93451,"Cleidocranial dysplasia and isolated cranial ossification defect"],[93452,"OBSOLETE: Craniosynostosis syndrome or cranial ossification disease"],[93453,"Dysostosis with predominant craniofacial involvement"],[93454,"Dysostosis with predominant vertebral and costal involvement"],[93455,"Patellar dysostosis"],[93456,"OBSOLETE: Brachydactyly group",["OBSOLETE: Brachydactyly with or without extraskeletal manifestations"]],[93457,"Non-syndromic limb reduction defect",["Non-syndromic limb hypoplasia"]],[93458,"Non-syndromic polydactyly, syndactyly and/or hyperphalangy"],[93459,"Syndrome with synostosis or other joint formation defect"],[93460,"Overgrowth syndrome"],[93461,"Chromosomal disease with overgrowth"],[93465,"Lethal chondrodysplasia"],[93466,"OBSOLETE: Limb-girdle bone anomaly"],[93469,"OBSOLETE: Harmonic micromelia"],[93470,"OBSOLETE: Dysharmonic micromelia"],[93471,"OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly"],[93472,"OBSOLETE: Dysmorphic syndrome associated with bone anomaly"],[93473,"Hurler syndrome",["Hurler disease","MPS1H","MPSIH","Mucopolysaccharidosis type 1H","Mucopolysaccharidosis type IH"]],[93474,"Scheie syndrome",["MPS1S","MPSIS","Mucopolysaccharidosis type 1S","Mucopolysaccharidosis type IS"]],[93476,"Hurler-Scheie syndrome",["MPS1H/S","MPSIH/S","Mucopolysaccharidosis type 1H/S","Mucopolysaccharidosis type IH/S"]],[93545,"Renal or urinary tract malformation",["CAKUT","Congenital anomalies of kidney and urinary tract"]],[93546,"Non-syndromic renal or urinary tract malformation"],[93547,"Syndromic renal or urinary tract malformation"],[93548,"Glomerular disease"],[93550,"OBSOLETE: Basement membrane disease"],[93551,"OBSOLETE: Secondary glomerular disease"],[93552,"Pediatric systemic lupus erythematosus",["SLE, pediatric onset"]],[93554,"Mixed cryoglobulinemia type II",["MC type II"]],[93555,"Mixed cryoglobulinemia type III",["MC type III"]],[93556,"Heavy chain deposition disease",["HCDD"]],[93557,"Light and heavy chain deposition disease",["LHCDD"]],[93558,"Light chain deposition disease",["LCDD"]],[93559,"C3 deposition glomerulonephritis without proliferation"],[93560,"AApoAI amyloidosis",["Apolipoprotein A-I amyloidosis","Familial amyloid nephropathy due to apolipoprotein A-I variant","Familial renal amyloidosis due to apolipoprotein A-I variant","Hereditary amyloid nephropathy due to apolipoprotein A-I variant","Hereditary renal amyloidosis due to apolipoprotein A-I variant"]],[93561,"ALys amyloidosis",["Familial amyloid nephropathy due to lysozyme variant","Familial renal amyloidosis due to lysozyme variant","Hereditary amyloid nephropathy due to lysozyme variant","Hereditary renal amyloidosis due to lysozyme variant","Lysozyme amyloidosis"]],[93562,"AFib amyloidosis",["Familial amyloid nephropathy due to fibrinogen A alpha-chain variant","Fibrinogen A alpha-chain amyloidosis","Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant","Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant"]],[93564,"OBSOLETE: Pediatric polyarteritis nodosa",["OBSOLETE: PAN, pediatric onset"]],[93566,"OBSOLETE: Pediatric Sjögren syndrome"],[93567,"OBSOLETE: Pediatric systemic sclerosis",["OBSOLETE: Pediatric systemic scleroderma"]],[93568,"Juvenile polymyositis",["Juvenile PM"]],[93569,"NON RARE IN EUROPE: Polymyalgia rheumatica",["NON RARE IN EUROPE: Rhizomelic pseudopolyarthritis"]],[93571,"Dense deposit disease",["Membranoproliferative glomerulonephritis type 2"]],[93573,"Thrombotic microangiopathy",["TMA"]],[93575,"OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly",["OBSOLETE: Atypical HUS with C3 anomaly","OBSOLETE: D- HUS with C3 anomaly","OBSOLETE: Hemolytic uremic syndrome without diarrhea with C3 anomaly","OBSOLETE: aHUS with C3 anomaly"]],[93576,"OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly",["OBSOLETE: Atypical HUS with MCP/CD46 anomaly","OBSOLETE: D- HUS with MCP/CD46 anomaly","OBSOLETE: Hemolytic uremic syndrome without diarrhea with MCP/CD46 anomaly","OBSOLETE: aHUS with MCP/CD46 anomaly"]],[93578,"OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly",["OBSOLETE: Atypical HUS with B factor anomaly","OBSOLETE: D- HUS with B factor anomaly","OBSOLETE: Hemolytic uremic syndrome without diarrhea with B factor anomaly","OBSOLETE: aHUS with B factor anomaly"]],[93579,"OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly",["OBSOLETE: Atypical HUS with H factor anomaly","OBSOLETE: D- HUS with H factor anomaly","OBSOLETE: Hemolytic uremic syndrome without diarrhea with H factor anomaly","OBSOLETE: aHUS with H factor anomaly"]],[93580,"OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly",["OBSOLETE: Atypical HUS with I factor anomaly","OBSOLETE: D- HUS with I factor anomaly","OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly","OBSOLETE: Partial factor I deficiency","OBSOLETE: aHUS with I factor anomaly"]],[93581,"Atypical hemolytic uremic syndrome with anti-factor H antibodies",["Atypical HUS with anti-factor H antibodies","aHUS with anti-factor H antibodies","aHUS with neutralizing autoantibodies against factor H"]],[93583,"Congenital thrombotic thrombocytopenic purpura",["Congenital ADAMTS-13 deficiency","Congenital TTP","Familial TTP","Upshaw-Schulman syndrome","cTTP"]],[93585,"Immune-mediated thrombotic thrombocytopenic purpura",["Acquired TTP","Acquired thrombotic thrombocytopenic purpura","Autoimmune thrombotic thrombocytopenic purpura","Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies","aTTP","iTTP"]],[93587,"Genetic cystic renal disease",["Hereditary cystic renal disease"]],[93589,"Late-onset nephronophthisis"],[93591,"Infantile nephronophthisis",["Autosomal recessive infantile NPHP","Autosomal recessive infantile nephronophthisis"]],[93592,"Juvenile nephronophthisis"],[93593,"Nephropathy secondary to a storage or other metabolic disease"],[93594,"OBSOLETE: Alpha-1-antichymotrypsin deficiency"],[93598,"Primary hyperoxaluria type 1",["Glycolic aciduria","Peroxisomal alanine-glyoxylate aminotransferase deficiency"]],[93599,"Primary hyperoxaluria type 2",["D-glycerate dehydrogenase deficiency","L-glyceric aciduria"]],[93600,"Primary hyperoxaluria type 3"],[93601,"Xanthinuria type I",["XDH deficiency","XO deficiency","XOR deficiency","Xanthine dehydrogenase deficiency","Xanthine oxidase deficiency","Xanthine oxidoreductase deficiency"]],[93602,"Xanthinuria type II",["XDH and AOX dual deficiency","Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency"]],[93603,"Rare renal tubular disease"],[93604,"OBSOLETE: Antenatal Bartter syndrome",["OBSOLETE: Bartter syndrome, furosemide type","OBSOLETE: Bartter syndrome, furosemide-amiloride type","OBSOLETE: Hyperprostaglandin E syndrome"]],[93605,"Bartter syndrome type 3",["Bartter syndrome type III"]],[93606,"Nephrogenic syndrome of inappropriate antidiuresis",["NSIAD"]],[93607,"Autosomal recessive proximal renal tubular acidosis",["AR pRTA","Proximal renal tubular acidosis with ocular abnormalities and intellectual disability"]],[93608,"Autosomal dominant distal renal tubular acidosis",["AD dRTA"]],[93609,"Autosomal recessive distal renal tubular acidosis without deafness",["AR dRTA without deafness","AR dRTA without hearing loss","Autosomal recessive distal renal tubular acidosis without hearing loss","Distal renal tubular acidosis type 1c","dRTA type 1c"]],[93610,"Distal renal tubular acidosis with anemia",["dRTA with anemia"]],[93611,"Autosomal recessive distal renal tubular acidosis with deafness",["AR dRTA with deafness","AR dRTA with hearing loss","Autosomal recessive distal RTA with deafness","Autosomal recessive distal renal tubular acidosis with hearing loss","Distal renal tubular acidosis type 1b","dRTA type 1b"]],[93612,"Cystinuria type A"],[93613,"Cystinuria type B"],[93614,"Hematological disorder with renal involvement"],[93616,"Hemoglobin H disease",["Alpha-thalassemia intermedia","HbH disease"]],[93618,"Rare cause of hypertension"],[93619,"Rare renal tumor"],[93622,"Dent disease type 1"],[93623,"Dent disease type 2"],[93626,"Rare renal disease"],[93665,"Autoinflammatory syndrome"],[93668,"OBSOLETE: Adult chronic recurrent multifocal osteomyelitis",["OBSOLETE: Adult CRMO"]],[93672,"Juvenile dermatomyositis",["Juvenile DM"]],[93682,"OBSOLETE: Pediatric Castleman disease"],[93685,"Unicentric Castleman disease",["Localized Castleman disease"]],[93686,"OBSOLETE: Multicentric Castleman disease",["OBSOLETE: MCD","OBSOLETE: Multicentric giant lymph node hyperplasia"]],[93688,"OBSOLETE: Non-idiopathic juvenile arthritis"],[93890,"Rare developmental defect during embryogenesis",["Malformation syndrome"]],[93921,"Full schwannomatosis",["Full NF3","Full SWN","Full neurofibromatosis type 3","Neurilemmomatosis","Nonmosaic schwannomatosis"]],[93924,"Lobar holoprosencephaly"],[93925,"Alobar holoprosencephaly"],[93926,"Midline interhemispheric variant of holoprosencephaly",["MIH","MIH type HPE","MIHF","MIHV","Middle interhemispheric fusion variant","Middle interhemispheric variant of holoprosencephaly","Syntelencephaly"]],[93928,"Isolated epispadias"],[93929,"Cloacal exstrophy",["OEIS complex","Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"]],[93930,"Classic bladder exstrophy",["Classic exstrophy of the bladder"]],[93932,"FG syndrome type 1",["Opitz-Kaveggia syndrome"]],[93937,"OBSOLETE: Terminal transverse defects of arm",["OBSOLETE: Congenital limb amputation"]],[93938,"Laryngotracheoesophageal cleft type 1",["LTEC I","LTEC1","Laryngo-tracheo-esophageal cleft type 1"]],[93939,"Laryngotracheoesophageal cleft type 2",["LTEC II","LTEC2","Laryngo-tracheo-esophageal cleft type 2"]],[93940,"Laryngotracheoesophageal cleft type 3",["LTEC III","LTEC3","Laryngo-tracheo-esophageal cleft type 3"]],[93941,"Laryngotracheoesophageal cleft type 4",["LTEC IV","LTEC4","Laryngo-tracheo-esophageal cleft type 4"]],[93942,"OBSOLETE: Superior celosomia"],[93943,"Corpus callosum dysgenesis-hypopituitarism syndrome"],[93944,"X-linked intellectual disability, Fichera type"],[93945,"X-linked intellectual disability, Porteous type"],[93946,"Hamel cerebro-palato-cardiac syndrome"],[93947,"X-linked intellectual disability, Golabi-Ito-Hall type"],[93950,"X-linked intellectual disability, Sutherland-Haan type"],[93951,"OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome"],[93952,"X-linked intellectual disability, Hedera type",["MRXSH"]],[93953,"Familial thyroglossal duct cyst"],[93955,"OBSOLETE: Benign essential blepharospasm",["OBSOLETE: Primary blepharospasm"]],[93956,"OBSOLETE: Truncal dystonia"],[93957,"OBSOLETE: Limb dystonia"],[93958,"Oromandibular dystonia"],[93961,"OBSOLETE: Laryngeal dyskinesia",["OBSOLETE: Laryngeal dystonia","OBSOLETE: Spasmodic dysphonia"]],[93962,"OBSOLETE: Cervical dystonia"],[93963,"OBSOLETE: Autosomal dominant focal dystonia, DYT7 type",["OBSOLETE: Adult-onset focal torsion dystonia","OBSOLETE: Adult-onset idiopathic torsion dystonia","OBSOLETE: DYT7"]],[93964,"Blepharospasm-oromandibular dystonia syndrome",["Meige dystonia","Meige syndrome"]],[93968,"Meningocele"],[93969,"Open spinal dysraphism with a myelomeningocele",["MMC","Myelomeningocele"]],[93970,"Holmes-Gang syndrome"],[93971,"Chudley-Lowry-Hoar syndrome",["Chudley-Lowry syndrome"]],[93972,"Juberg-Marsidi syndrome"],[93973,"Carpenter-Waziri syndrome"],[93974,"Smith-Fineman-Myers syndrome"],[93975,"OBSOLETE: Renier-Gabreels-Jasper syndrome"],[93976,"Anotia"],[94056,"Isolated humero-ulnar synostosis",["Isolated congenital humeroulnar fusion"]],[94058,"Neovascular glaucoma"],[94059,"Uremic pruritus"],[94061,"OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome"],[94062,"NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome"],[94063,"12q14 microdeletion syndrome",["Del(12)(q14)","Deletion 12q14","Monosomy 12q14","Osteopoikilosis-short stature-intellectual disability syndrome"]],[94064,"Deafness-infertility syndrome",["DIS","Hearing loss-infertility syndrome"]],[94065,"15q24 microdeletion syndrome",["Del(15)(q24)","Monosomy 15q24"]],[94066,"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"],[94068,"Spondyloepiphyseal dysplasia congenita",["Congenital spondyloepiphyseal dysplasia","SEDC","Spranger-Wiedemann disease"]],[94075,"Severe immune-mediated enteropathy",["Autoimmune enteropathy","Immune-mediated protracted diarrhea of infancy"]],[94080,"Non-functioning paraganglioma",["Non-secreting paraganglioma"]],[94083,"Partington syndrome",["Partington-Mulley syndrome","X-linked intellectual disability-dystonia-dysarthria syndrome"]],[94084,"Cerebro-oculo-facial-lymphatic syndrome",["Fryns-Aftimos syndrome"]],[94086,"Blue diaper syndrome",["Drummond syndrome","Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"]],[94087,"Cytophagic histiocytic panniculitis",["CHP","Winkelmann cytophagic panniculitis"]],[94088,"Hereditary renal hypouricemia",["Familial renal hypouricemia"]],[94089,"Pseudohypoparathyroidism type 1B"],[94090,"Pseudohypoparathyroidism type 2"],[94091,"Mills syndrome"],[94093,"Neuroleptic malignant syndrome"],[94095,"OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome",["OBSOLETE: Casamassima-Morton-Nance syndrome"]],[94122,"Cerebellar ataxia, Cayman type",["Cayman ataxia"]],[94124,"Spinocerebellar ataxia with axonal neuropathy type 1",["SCAN1"]],[94125,"Recessive mitochondrial ataxia syndrome",["MIRAS"]],[94145,"Autosomal dominant cerebellar ataxia type I",["ADCA1","ADCAI","Autosomal dominant cerebellar ataxia type 1","Cerebellar plus syndrome"]],[94147,"Spinocerebellar ataxia type 7",["Ataxia with pigmentary retinopathy","Cerebellar syndrome-pigmentary maculopathy syndrome","SCA7"]],[94148,"Autosomal dominant cerebellar ataxia type III",["ADCA3","ADCAIII","Autosomal dominant cerebellar ataxia type 3","Pure cerebellar syndrome-mild pyramidal signs syndrome"]],[94149,"Autosomal dominant cerebellar ataxia type IV",["ADCA4","ADCAIV","Autosomal dominant cerebellar ataxia type 4"]],[94150,"Anonychia congenita totalis"],[95157,"Acute hepatic porphyria"],[95159,"Hepatoerythropoietic porphyria",["HEP"]],[95161,"OBSOLETE: Chronic hepatic porphyria"],[95232,"Lissencephaly due to LIS1 mutation",["PAFAH1B1-related lissencephaly"]],[95409,"Acute adrenal insufficiency",["Acute adrenal failure","Acute adrenocortical insufficiency","Addisonian crisis","Adrenal crisis","Adrenocortical crisis"]],[95426,"OBSOLETE: Chronic pain requiring intraspinal analgesia"],[95427,"Secondary short bowel syndrome"],[95428,"COG8-CDG",["CDG syndrome type IIh","CDG-IIh","CDG2H","Carbohydrate deficient glycoprotein syndrome type IIh","Congenital disorder of glycosylation type 2h","Congenital disorder of glycosylation type IIh"]],[95429,"Angioma serpiginosum"],[95430,"Congenital tracheomalacia",["Congenital major airway collapse"]],[95431,"Twin to twin transfusion syndrome",["Feto-fetal transfusion syndrome"]],[95432,"Primary progressive aphasia",["Mesulam syndrome","PPA"]],[95433,"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome",["Autosomal recessive spinocerebellar ataxia type 3","Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome","SCABD","SCAR3"]],[95434,"Autosomal recessive cerebellar ataxia-movement disorder syndrome",["SCAR4","SCASI"]],[95443,"Mesocardia",["Midline heart"]],[95448,"Congenital aortic valve atresia"],[95449,"OBSOLETE: Congenital aortic valve insufficiency"],[95455,"Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum",["Epidermal necrolysis","SJS-TEN"]],[95457,"Tricuspid valve agenesis",["Congenital unguarded tricuspid orifice"]],[95458,"OBSOLETE: Tricuspid valve prolapse"],[95459,"Congenital tricuspid stenosis"],[95461,"Straddling or overriding tricuspid valve"],[95462,"Accessory tricuspid valve tissue"],[95463,"Anomaly of the tricuspid subvalvular apparatus"],[95464,"Congenital mitral valve insufficiency and/or stenosis"],[95465,"Cleft mitral valve"],[95474,"Double-orifice mitral valve"],[95483,"Univentricular cardiopathy"],[95484,"OBSOLETE: Aneurysm or dilatation of ascending aorta"],[95485,"Arterial duct anomaly",["Patent ductus arteriosus anomalies"]],[95486,"Premature closure of the arterial duct",["Premature closure of the patent ductus arteriosus"]],[95487,"NON RARE IN EUROPE: Atypical arterial duct",["NON RARE IN EUROPE: Atypical patent ductus arteriosus"]],[95488,"Non-acquired pituitary hormone deficiency"],[95491,"Congenital coronary artery aneurysm",["Congenital coronary aneurysm"]],[95493,"OBSOLETE: Abnormal origin or aberrant course of coronary artery"],[95494,"Combined pituitary hormone deficiencies, genetic forms",["Familial congenital hypopituitarism","Multiple pituitary hormone deficiencies, genetic forms"]],[95495,"Disease associated with non-acquired combined pituitary hormone deficiency"],[95496,"Pituitary stalk interruption syndrome",["Ectopic neurohypophysis","PSIS"]],[95498,"Congenital anomaly of superior vena cava",["Congenital anomaly of superior caval vein","Congenital anomaly of the SVC"]],[95499,"Congenital anomaly of the inferior vena cava",["Congenital anomaly of the IVC","Congenital anomaly of the inferior caval vein"]],[95500,"Congenital anomaly of the coronary sinus"],[95501,"OBSOLETE: Congenital central diabetes insipidus"],[95502,"Acquired pituitary hormone deficiency"],[95503,"Pituitary hormone deficiency of tumoral origin"],[95504,"OBSOLETE: Metastatic pituitary hormone deficiency"],[95505,"Pituitary hormone deficiency of meningeal origin"],[95506,"Primary hypophysitis",["Autoimmune hypophysitis"]],[95507,"Congenital anomaly of hepatic vein"],[95510,"Atrial appendage anomaly",["Atrial auricle anomaly"]],[95512,"Adenohypophysitis",["Anterior pituitary hypophysitis"]],[95513,"Panhypophysitis",["Infundibulo-panhypophysitis"]],[95611,"Pituitary hormone deficiency of vascular origin"],[95613,"Pituitary apoplexy",["Pituitary tumor apoplexy"]],[95614,"OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage"],[95615,"OBSOLETE: Pituitary deficiency secondary to an anevrysm"],[95617,"Pituitary hormone deficiency secondary to a granulomatous disease"],[95618,"Pituitary hormone deficiency secondary to storage disease"],[95619,"Post-traumatic pituitary deficiency"],[95621,"OBSOLETE: Postsurgical hypopituitarism"],[95622,"OBSOLETE: Radiation-induced hypopituitarism"],[95623,"OBSOLETE: Posttraumatic hypopituitarism"],[95625,"OBSOLETE: Posttraumatic diabetes insipidus"],[95626,"Acquired arginine vasopressin deficiency",["Acquired CDI","Acquired neurogenic diabetes insipidus"]],[95698,"NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",["NON RARE IN EUROPE: NCAH"]],[95699,"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency",["Congenital adrenal hyperplasia due to cytochrome POR deficiency","POR deficiency","PORD"]],[95700,"Familial adrenal hypoplasia with absent pituitary luteinizing hormone",["Familial adrenal hypoplasia with absent pituitary LH","Familial adrenal hypoplasia, miniature type"]],[95701,"OBSOLETE: Congenital adrenal hypoplasia of maternal cause"],[95702,"X-linked adrenal hypoplasia congenita",["X-linked AHC","X-linked congenital adrenal hypoplasia"]],[95706,"Non-syndromic posterior hypospadias",["Hypospadias, severe form","Perineal, scrotal or penoscrotal hypospadias"]],[95707,"Idiopathic isolated micropenis"],[95708,"Rare precocious puberty"],[95709,"Rare acquired premature ovarian failure"],[95710,"Rare non-acquired premature ovarian failure"],[95711,"Congenital hypothyroidism due to developmental anomaly",["Primary congenital hypothyroidism due to developmental anomaly"]],[95712,"Thyroid ectopia"],[95713,"Athyreosis"],[95714,"Primary congenital hypothyroidism without thyroid developmental anomaly"],[95715,"Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies"],[95716,"Familial thyroid dyshormonogenesis",["Thyroid dyshormonogenesis"]],[95717,"Idiopathic congenital hypothyroidism"],[95718,"Congenital thyroid malformation without hypothyroidism"],[95719,"Thyroid hemiagenesis"],[95720,"Thyroid hypoplasia"],[95721,"OBSOLETE: Thyroid pyramidal lobe"],[95854,"OBSOLETE: Levocardia",["OBSOLETE: Isolated levocardia"]],[96055,"Tetrasomy 21 syndrome",["Isochromosome 21"]],[96059,"Mosaic trisomy 4 syndrome",["Mosaic trisomy chromosome 4","Trisomy 4 mosaicism"]],[96060,"Mosaic trisomy 5 syndrome",["Mosaic trisomy chromosome 5","Trisomy 5 mosaicism"]],[96061,"Mosaic trisomy 8 syndrome",["Mosaic trisomy chromosome 8","Trisomy 8 mosaicism","Warkany syndrome"]],[96063,"Mosaic trisomy 10 syndrome",["Mosaic trisomy chromosome 10","Trisomy 10 mosaicism"]],[96068,"Mosaic trisomy 22 syndrome",["Mosaic trisomy chromosome 22","Trisomy 22 mosaicism"]],[96069,"Distal duplication 1p36 syndrome",["Distal trisomy 1p36","Telomeric duplication 1p36","Trisomy 1pter"]],[96070,"Distal duplication 2p syndrome",["Trisomy 2pter","Distal trisomy 2p","Telomeric duplication 2p"]],[96071,"Distal duplication 3p syndrome",["Distal trisomy 3p","Telomeric duplication 3p","Trisomy 3pter"]],[96072,"4p16.3 microduplication syndrome",["Distal duplication 4p","Distal trisomy 4p","Telomeric duplication 4p","Trisomy 4pter"]],[96074,"Distal duplication 7p syndrome",["Distal trisomy 7p","Telomeric duplication 7p","Trisomy 7pter"]],[96076,"Beckwith-Wiedemann syndrome due to 11p15 microduplication"],[96078,"16p13.3 microduplication syndrome",["Distal duplication 16p","Distal trisomy 16p","Dup(16)(p13.3)","Telomeric duplication 16p","Trisomy 16pter"]],[96092,"8p inverted duplication/deletion syndrome",["Invdupdel(8p)","Inverted 8p duplication/deletion syndrome"]],[96094,"Distal duplication 2q syndrome",["Distal trisomy 2q","Telomeric duplication 2q","Trisomy 2qter"]],[96095,"3q26 microduplication syndrome",["Dup(3)(q26)","Dup(3q) syndrome","Trisomy 3q26"]],[96096,"Distal duplication 4q syndrome",["Distal trisomy 4q","Telomeric duplication 4q","Trisomy 4qter"]],[96097,"Distal duplication 5q syndrome",["Distal trisomy 5q","Telomeric duplication 5q","Trisomy 5qter"]],[96098,"Distal duplication 6q syndrome",["Distal trisomy 6q","Telomeric duplication 6q","Trisomy 6qter"]],[96100,"Distal duplication 8q syndrome",["Distal trisomy 8q","Telomeric duplication 8q","Trisomy 8qter"]],[96101,"Distal duplication 9q syndrome",["Distal trisomy 9q","Telomeric duplication 9q","Trisomy 9qter"]],[96102,"Distal duplication 10q syndrome",["Distal trisomy 10q","Telomeric duplication 10q","Trisomy 10qter"]],[96103,"Distal duplication 11q syndrome",["Telomeric duplication 11q","Trisomy 11qter","Distal trisomy 11q"]],[96105,"Distal duplication 13q syndrome",["Distal trisomy 13q","Telomeric duplication 13q","Trisomy 13qter"]],[96106,"Distal duplication 16q syndrome",["Distal trisomy 16q","Telomeric duplication 16q","Trisomy 16qter"]],[96107,"Distal duplication 20q syndrome",["Distal trisomy 20q","Telomeric duplication 20q","Trisomy 20qter"]],[96109,"Distal duplication 22q syndrome",["Distal trisomy 22q","Telomeric duplication 22q","Trisomy 22qter"]],[96112,"Non-distal duplication 9q syndrome",["Non-distal trisomy 9q","Non-telomeric trisomy 9q"]],[96121,"7q11.23 microduplication syndrome",["Dup(7)(q11.23)","Trisomy 7q11.23"]],[96123,"Monosomy 22 syndrome",["Del(22)","Deletion 22"]],[96125,"Distal deletion 6p syndrome",["6p subtelomeric deletion syndrome","6p25 microdeletion syndrome","Distal deletion 6p25","Monosomy 6p25","Monosomy 6pter"]],[96126,"Distal deletion 7p syndrome",["Distal monosomy 7p","Monosomy 7pter","Telomeric deletion 7p"]],[96129,"Distal deletion 19p syndrome",["Distal deletion 19p13.3","Distal monosomy 19p13.3","Telomeric deletion 19p"]],[96136,"OBSOLETE: Non-distal monosomy 7p",["OBSOLETE: Non-distal deletion 7p","OBSOLETE: Non-telomeric monosomy 7p"]],[96145,"Distal deletion 4q syndrome",["Distal monosomy 4q","Monosomy 4qter","Telomeric deletion 4q"]],[96147,"Kleefstra syndrome due to 9q34 microdeletion",["9q subtelomeric deletion syndrome","9qSTDS","Kleefstra syndrome due to 9q subtelomeric deletion","Kleefstra syndrome due to del(9)(q34)","Kleefstra syndrome due to monosomy 9q34"]],[96148,"Distal deletion 10q syndrome",["Deletion 10qter","Distal monosomy 10q","Monosomy 10qter","Telomeric deletion 10q"]],[96149,"Distal deletion 12q syndrome",["Distal monosomy 12q","Monosomy 12qter","Telomeric deletion 12q"]],[96150,"Distal deletion 14q syndrome",["Distal monosomy 14q","Telomeric deletion 14q"]],[96152,"OBSOLETE: Distal monosomy 20q",["OBSOLETE: Distal deletion 20q","OBSOLETE: Monosomy 20qter","OBSOLETE: Telomeric deletion 20q"]],[96160,"Non-distal deletion 12q syndrome",["Non-distal monosomy 12q","Non-telomeric monosomy 12q"]],[96164,"OBSOLETE: Non-distal monosomy 20q",["OBSOLETE: Non-distal deletion 20q","OBSOLETE: Non-telomeric monosomy 20q"]],[96167,"Recombinant 8 syndrome",["Duplication 8q/deletion 8p","Rec(8) syndrome","Rec8 syndrome","Recombinant chromosome 8 syndrome","San Luis Valley syndrome"]],[96168,"Monosomy 13q34 syndrome",["Del(13)(q34)","Distal deletion 13q34","Subtelomeric deletion 13q34"]],[96169,"Koolen-De Vries syndrome",["KdVS"]],[96170,"Emanuel syndrome",["Der(22)t(11;22) syndrome","Supernumerary der(22) syndrome"]],[96171,"Ring chromosome 2 syndrome",["Ring 2","Ring chromosome 2"]],[96172,"Ring chromosome 3 syndrome",["Ring 3","Ring chromosome 3"]],[96173,"Ring chromosome 9 syndrome",["Ring 9","Ring chromosome 9"]],[96175,"Ring chromosome 11 syndrome",["RC11","Ring 11","Ring chromosome 11","r(11) syndrome"]],[96176,"Ring chromosome 13 syndrome",["Ring 13","Ring chromosome 13"]],[96177,"Ring chromosome 15 syndrome",["Ring 15","Ring chromosome 15"]],[96178,"Ring chromosome 16 syndrome",["Ring 16","Ring chromosome 16"]],[96179,"Maternal uniparental disomy of chromosome 2 syndrome",["UPD(2)mat"]],[96180,"Maternal uniparental disomy of chromosome 4 syndrome",["UPD(4)mat"]],[96181,"Maternal uniparental disomy of chromosome 6 syndrome",["UPD(6)mat"]],[96182,"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7",["UPD(7)mat"]],[96183,"Maternal uniparental disomy of chromosome 9 syndrome",["UPD(9)mat"]],[96184,"Temple syndrome due to maternal uniparental disomy of chromosome 14",["UPD(14)mat"]],[96185,"Maternal uniparental disomy of chromosome 16 syndrome",["UPD(16)mat"]],[96186,"Maternal uniparental disomy of chromosome 20 syndrome",["Maternal UPD(20)","UPD(20)mat"]],[96187,"Maternal uniparental disomy of chromosome 21 syndrome",["UPD(21)mat"]],[96188,"Maternal uniparental disomy of chromosome 22 syndrome",["UPD(22)mat"]],[96190,"Paternal uniparental disomy of chromosome 5 syndrome",["UPD(5)pat"]],[96191,"Paternal uniparental disomy of chromosome 6 syndrome",["UPD(6)pat"]],[96192,"Paternal uniparental disomy of chromosome 7 syndrome",["UPD(7)pat"]],[96193,"Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11",["Mosaic paternal uniparental disomy of chromosome 11","UPD(11)pat"]],[96194,"Paternal uniparental disomy of chromosome 20 syndrome",["Paternal UPD(20)","UPD(20)pat"]],[96195,"Paternal uniparental disomy of chromosome 21 syndrome",["UPD(21)pat"]],[96201,"X small rings syndrome"],[96210,"Rare genetic deafness",["Rare genetic hearing loss"]],[96253,"Cushing disease",["Corticotroph pituitary adenoma","Pituitary corticotroph micro-adenoma","Pituitary-dependent Cushing syndrome"]],[96256,"Somatotropic adenoma",["Somatotropinoma"]],[96263,"48,XXXY syndrome"],[96264,"49,XXXXY syndrome"],[96265,"Leydig cell hypoplasia due to complete LH resistance",["46,XY disorder of sex development due to complete luteinizing hormone resistance","Leydig cell hypoplasia due to complete LH receptor inactivation","Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation","Leydig cell hypoplasia due to complete luteinizing hormone resistance","46,XY DSD due to complete LH receptor inactivation","46,XY DSD due to complete LH resistance","46,XY DSD due to complete luteinizing hormone receptor inactivation","46,XY DSD due to complete luteinizing hormone resistance","46,XY disorder of sex development due to complete LH receptor inactivation","46,XY disorder of sex development due to complete LH resistance","46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation"]],[96266,"Leydig cell hypoplasia due to partial LH resistance",["46,XY DSD due to partial LH receptor inactivation","46,XY DSD due to partial LH resistance","46,XY DSD due to partial luteinizing hormone resistance","46,XY disorder of sex developement due to partial LH receptor inactivation","46,XY disorder of sex developement due to partial LH resistance","46,XY disorder of sex developement due to partial luteinizing hormone resistance","Leydig cell hypoplasia due to partial LH receptor inactivation","Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation","Leydig cell hypoplasia due to partial luteinizing hormone resistance"]],[96269,"Isolated partial vaginal agenesis",["Congenital absence of vagina"]],[96321,"Polyploidy syndrome"],[96325,"Isochromosome Y syndrome"],[96333,"Rare otorhinolaryngological malformation"],[96334,"Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14",["UPD(14)pat"]],[96344,"Rare gynecologic or obstetric disease"],[96346,"Anorectal malformation",["ARM"]],[96369,"OBSOLETE: Early-onset schizophrenia"],[97120,"Distal arthrogryposis"],[97214,"Eisenmenger syndrome"],[97229,"Riboflavin transporter deficiency",["Brown-Vialetto-van Laere syndrome"]],[97230,"Solar urticaria"],[97231,"Ligneous conjunctivitis",["Conjunctivitis lignosa"]],[97232,"Fingerprint body myopathy"],[97234,"Glycogen storage disease due to phosphoglycerate mutase deficiency",["DiMauro disease","GSD due to phosphoglycerate mutase 2 deficiency","GSD type 10","Glycogen storage disease due to PGAM2 deficiency","Glycogen storage disease due to phosphoglycerate mutase 2 deficiency","Glycogen storage disease, type 10","Glycogen storage disease, type X","Glycogenosis due to phosphoglycerate mutase 2 deficiency","Muscle phosphoglycerate mutase deficiency","Myopathy due to phosphoglycerate mutase deficiency","PGAM deficiency","PGAM-M deficiency"]],[97238,"Rippling muscle disease"],[97239,"Reducing body myopathy"],[97240,"Zebra body myopathy"],[97242,"Congenital muscular dystrophy",["CMD","MDC"]],[97244,"Rigid spine syndrome",["Rigid spine congenital muscular dystrophy"]],[97245,"Congenital myopathy"],[97249,"Pontocerebellar hypoplasia type 3",["Cerebellar atrophy with progressive microcephaly","PCH3"]],[97252,"Mega-cisterna magna"],[97253,"Neuroendocrine tumor of pancreas",["PNET","Pancreatic NET","Pancreatic neuroendocrine tumor","Well-differentiated NEN of pancreas","Well-differentiated neuroendocrine neoplasm of pancreas","Well-differentiated pancreatic NEN","Well-differentiated pancreatic neuroendocrine neoplasm"]],[97261,"GRFoma",["GRF tumor","Growth hormone releasing factor tumor"]],[97275,"Encephalitis"],[97278,"PPoma",["Pancreatic polypeptidoma"]],[97279,"Insulinoma"],[97280,"Glucagonoma",["Glucagonoma syndrome"]],[97282,"VIPoma",["Diarrheogenic islet cell tumor","Pancreatic cholera","VIP-secreting tumor","Verner-Morrison syndrome","WDHA syndrome","Watery diarrhea-hypokalemia-achlorhydria syndrome"]],[97283,"Somatostatinoma"],[97285,"Thyroid lymphoma"],[97286,"Carney-Stratakis syndrome",["Carney dyad","Carney-Stratakis dyad","GIST-paraganglioma dyad","Paraganglioma and gastric stromal sarcoma"]],[97287,"Bronchial neuroendocrine tumor",["Bronchial NET"]],[97289,"Thymic neuroendocrine tumor"],[97290,"Familial papillary thyroid carcinoma with renal papillary neoplasia",["PTC-RCC"]],[97292,"Cardiogenic shock"],[97293,"Rare benign ovarian tumor"],[97295,"Furlong syndrome",["Marfanoid habitus-craniosynostosis syndrome"]],[97297,"Bohring-Opitz syndrome",["BOS syndrome","Bohring syndrome","C-like syndrome","Oberklaid-Danks syndrome","Opitz trigonocephaly-like syndrome"]],[97330,"Thoracic outlet syndrome",["TOS","Thoracic outlet compression syndrome"]],[97332,"Kienbock disease",["Aseptic necrosis of the lunate bone","Lunatomalacia","Osteochondrosis of the lunate bone","Progressive avascular necrosis of the lunate bone"]],[97335,"Osgood-Schlatter disease",["Aseptic necrosis of the tibial tubercle","Osteochondrosis of the tibial tubercle"]],[97336,"Panner disease",["Aseptic necrosis of the capital humerus","Osteochondrosis of the capital humerus"]],[97337,"Sinding-Larsen-Johansson disease",["Aseptic necrosis of patella","Osteochondrosis of patella"]],[97338,"Melanoma of soft tissue",["Clear cell sarcoma of the tendons and aponeuroses"]],[97339,"Dural sinus malformation with arteriovenous shunt",["Cranial dural arteriovenous fistula","Dural sinus malformation with arteriovenous fistulae"]],[97340,"Hunter-McAlpine syndrome"],[97341,"Persistent placoid maculopathy"],[97342,"OBSOLETE: Argyrophilic grain disease",["OBSOLETE: Braak disease"]],[97345,"ABri amyloidosis",["Familial dementia, British type"]],[97346,"ADan amyloidosis",["Familial dementia, Danish type"]],[97349,"Postencephalitic parkinsonism"],[97352,"Pellagra"],[97353,"Dementia pugilistica",["Boxer's dementia","Chronic traumatic encephalopathy","Punch-drunk syndrome"]],[97354,"NON RARE IN EUROPE: Wernicke encephalopathy",["NON RARE IN EUROPE: Dementia due to thiamine deficiency"]],[97355,"Caribbean parkinsonism",["Atypical parkinsonism in the Caribbean"]],[97360,"Robinow syndrome",["Acral dysostosis with facial and genital abnormalities","Fetal face syndrome","Mesomelic dwarfism-small genitalia syndrome","Robinow dwarfism","Robinow-Silverman-Smith syndrome"]],[97361,"Renal hypoplasia, unilateral"],[97362,"Renal hypoplasia, bilateral"],[97363,"Unilateral multicystic dysplastic kidney",["Unilateral MCDK","Unilateral multicystic renal dysplasia"]],[97364,"Bilateral multicystic dysplastic kidney",["Bilateral MCDK","Bilateral multicystic renal dysplasia"]],[97365,"NON RARE IN EUROPE: Solitary renal cyst",["NON RARE IN EUROPE: Simple kidney cyst"]],[97366,"Multiloculated renal cyst",["Multilocular cyst of the kidney","Multilocular renal cyst"]],[97367,"Renal tubular dysgenesis due to twin-twin transfusion"],[97368,"Drug-related renal tubular dysgenesis"],[97369,"Renal tubular dysgenesis of genetic origin"],[97548,"Right isomerism",["Ivemark syndrome","RAI","Right atrial isomerism"]],[97552,"Steroid-sensitive nephrotic syndrome without renal biopsy"],[97555,"OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy"],[97556,"Congenital and infantile nephrotic syndrome"],[97557,"NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis",["NON RARE IN EUROPE: Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome"]],[97560,"Primary membranous glomerulonephritis",["Idiopathic membranous glomerulonephritis","Primary membranous nephropathy"]],[97562,"NON RARE IN EUROPE: Benign familial hematuria"],[97563,"Pauci-immune glomerulonephritis with ANCA",["Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody"]],[97564,"Pauci-immune glomerulonephritis without ANCA",["Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis","Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody"]],[97566,"Non-amyloid fibrillary glomerulopathy",["Congo red-negative amyloidosis-like glomerulopathy","Non-amyloid fibrillary glomerulonephritis"]],[97567,"Immunotactoid glomerulopathy",["Immunotactoid glomerulonephritis"]],[97569,"OBSOLETE: Unclassified glomerulonephritis"],[97593,"Pseudohypoparathyroidism"],[97598,"Congenital renal artery stenosis",["Congenital renovascular hypoplasia"]],[97599,"OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis"],[97668,"OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency"],[97678,"Maternal uniparental disomy of chromosome 13 syndrome",["UPD(13)mat"]],[97685,"17q11 microdeletion syndrome",["Del(17)(q11)","Monosomy 17q11","NF1 microdeletion syndrome","Neurofibromatosis type 1 microdeletion syndrome"]],[97927,"OBSOLETE: Peripheral resistance to thyroid hormones"],[97929,"Rare cardiac disease"],[97935,"Rare gastroenterologic disease"],[97944,"Gastroduodenal malformation",["Malformation of the stomach and the duodenum"]],[97945,"Intestinal malformation",["Malformation of the intestine"]],[97955,"Rare respiratory disease"],[97957,"Respiratory or thoracic malformation"],[97962,"Rare surgical thoracic disease"],[97965,"Rare surgical cardiac disease"],[97966,"Rare ophthalmic disorder"],[97978,"Rare endocrine disease"],[97992,"Rare hematologic disease"],[98004,"Rare immune disease"],[98006,"Rare neurologic disease",["Rare nervous system disease"]],[98010,"Infectious disease of the nervous system"],[98022,"Rare headache"],[98023,"Rare systemic or rheumatologic disease"],[98026,"Rare odontologic disease"],[98027,"Rare disease with odontological manifestation"],[98028,"Rare circulatory system disease"],[98033,"Rare neurologic disease with psychiatric involvement"],[98036,"Rare otorhinolaryngologic disease"],[98038,"Cranial malformation"],[98039,"Digestive tract malformation"],[98041,"Visceral malformation of the liver, biliary tract, pancreas or spleen"],[98043,"Diaphragmatic or abdominal wall malformation"],[98044,"Central nervous system malformation"],[98045,"Respiratory or mediastinal malformation"],[98047,"Rare infertility"],[98048,"Rare male infertility"],[98049,"Rare female infertility"],[98050,"Rare allergic disease",["Rare allergy"]],[98052,"Rare allergic respiratory disease",["Rare respiratory allergy"]],[98053,"Rare genetic disease"],[98054,"Rare genetic cardiac disease"],[98056,"Rare genetic renal disease"],[98057,"Rare tumor",["Rare neoplasm"]],[98058,"Rare urinary tract tumor",["Rare urinary tract cancer","Rare urinary tract neoplasm"]],[98059,"Rare digestive tumor",["Rare digestive cancer","Rare digestive neoplasm"]],[98060,"Rare respiratory tumor",["Rare respiratory cancer","Rare respiratory neoplasm"]],[98061,"Rare otorhinolaryngologic tumor",["Rare ORL cancer","Rare ORL neoplasm","Rare ORL tumor"]],[98062,"Rare nervous system tumor",["Rare nervous system neoplasm"]],[98063,"Rare gynecological tumor",["Rare gynaecological cancer","Rare gynaecological neoplasm"]],[98064,"OBSOLETE: Rare disease in physical medicine and rehabilitation"],[98068,"OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly"],[98069,"OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy"],[98070,"OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine"],[98071,"OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation"],[98073,"OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia"],[98074,"Gonadal dysgenesis of gynecological interest"],[98078,"46,XX difference of sex development induced by androgens excess",["46,XX DSD induced by androgens excess","46,XX disorder of sex development induced by androgens excess"]],[98085,"46,XY difference of sex development",["46,XY DSD","46,XY disorder of sex development"]],[98086,"46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue",["46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue"]],[98087,"Syndrome with 46,XY difference of sex development",["Syndrome with 46,XY DSD","Syndrome with 46,XY disorder of sex development"]],[98095,"Autosomal recessive congenital cerebellar ataxia"],[98096,"Autosomal recessive metabolic cerebellar ataxia"],[98097,"Autosomal recessive cerebellar ataxia due to a DNA repair defect"],[98098,"Autosomal recessive degenerative and progressive cerebellar ataxia"],[98099,"Autosomal recessive syndromic cerebellar ataxia"],[98101,"OBSOLETE: Pore-loop channelopathy"],[98102,"OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect"],[98103,"OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect"],[98104,"OBSOLETE: Channelopathy due to a transient receptor potential channel defect"],[98105,"OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels"],[98106,"OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect"],[98107,"OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect"],[98108,"OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect"],[98109,"OBSOLETE: Non-pore-loop channelopathy"],[98110,"OBSOLETE: Channelopathy due to an epithelial sodium channel defect"],[98111,"OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect"],[98112,"OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect"],[98113,"OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly"],[98114,"OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly"],[98115,"OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly"],[98116,"OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly"],[98117,"OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly"],[98118,"OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly"],[98119,"OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly"],[98120,"OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly"],[98121,"OBSOLETE: Cys-loop receptor channelopathy"],[98122,"OBSOLETE: Channelopathy due to a neuronal glycine receptor defect"],[98123,"OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect"],[98124,"OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect"],[98125,"OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect"],[98127,"Autosomal anomaly syndrome"],[98130,"Autosomal trisomy syndrome",["Autosomal duplication"]],[98131,"Total autosomal trisomy syndrome"],[98132,"Partial autosomal duplication/triplication syndrome",["Partial autosomal trisomy/tetrasomy"]],[98141,"Total autosomal monosomy syndrome"],[98142,"Partial autosomal deletion syndrome",["Partial autosomal monosomy"]],[98152,"Autosomal uniparental disomy syndrome"],[98153,"Maternal uniparental disomy syndrome"],[98154,"Paternal uniparental disomy syndrome"],[98155,"Sex-chromosome anomaly syndrome",["Allosome anomaly"]],[98156,"Sex-chromosome number anomaly syndrome",["Allosome number anomaly"]],[98157,"Sex-chromosome structural anomaly syndrome",["Allosome structural anomaly"]],[98158,"Chromosome Y structural anomaly syndrome"],[98159,"Chromosome X structural anomaly syndrome"],[98167,"OBSOLETE: Diabetes associated to exocrine pancreas neoplasia"],[98196,"Malformation syndrome with hamartosis",["Dysmorphologic diseases with phakomatosis"]],[98203,"Combined dystonia",["Dystonia-plus syndrome"]],[98204,"OBSOLETE: Heredodegenerative disease with dystonia as a major feature"],[98249,"Ehlers-Danlos syndrome",["EDS"]],[98252,"Infectious encephalitis"],[98253,"OBSOLETE: Postinfectious encephalitis"],[98255,"Chronic encephalitis"],[98257,"OBSOLETE: Neonatal epilepsy syndrome"],[98258,"OBSOLETE: Infantile epilepsy syndrome"],[98259,"Childhood-onset epilepsy syndrome"],[98260,"OBSOLETE: Adolescent-onset epilepsy syndrome"],[98261,"Progressive myoclonic epilepsy",["Progressive myoclonus epilepsy","PME"]],[98267,"Genetic non-syndromic obesity",["Monogenic obesity due to a leptin-melanocortin pathway anomaly"]],[98274,"Myeloproliferative neoplasm",["MPD","MPN","Myeloproliferative disorder"]],[98275,"Myelodysplastic/myeloproliferative disease"],[98277,"Acute myeloid leukemia with recurrent genetic anomaly",["AML with recurrent genetic anomaly"]],[98282,"Plasma cell tumor"],[98287,"Histiocytic and dendritic cell tumor"],[98288,"Macrophage or histiocytic tumor"],[98289,"Dendritic cell tumor"],[98290,"Immunodeficiency-associated lymphoproliferative disease"],[98291,"Lymphoproliferative disease associated with primary immune disease"],[98292,"Mastocytosis"],[98293,"Hodgkin lymphoma"],[98296,"OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly"],[98297,"OBSOLETE: Ichthyosis associated with a protein catabolism anomaly"],[98298,"OBSOLETE: Ichthyosis associated with a peroxisomal disease"],[98299,"OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly"],[98300,"Idiopathic interstitial pneumonia"],[98301,"Laminopathy"],[98305,"Genetic lipodystrophy"],[98306,"Familial partial lipodystrophy",["FPLD"]],[98307,"Acquired lipodystrophy"],[98309,"OBSOLETE: Male infertility with impaired virilization"],[98310,"OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder"],[98311,"OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia"],[98312,"OBSOLETE: Male infertility with impaired virilization due to a testicular disorder"],[98313,"Male infertility due to gonadal dysgenesis",["Male infertility due to testicular dysgenesis"]],[98314,"OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect"],[98315,"OBSOLETE: Male infertility with impaired virilization due to a viral orchitis"],[98316,"OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma"],[98317,"OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related"],[98318,"OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin"],[98319,"OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity"],[98320,"OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease"],[98321,"OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease"],[98322,"OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure"],[98323,"OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease"],[98324,"OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness"],[98325,"OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis"],[98326,"OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder"],[98327,"OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease"],[98328,"OBSOLETE: Male infertility with normal virilization"],[98329,"OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect"],[98330,"OBSOLETE: Male infertility with normal virilization due to androgen administration"],[98331,"OBSOLETE: Male infertility with normal virilization due to a testicular defect"],[98332,"OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect"],[98333,"OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism"],[98334,"OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele"],[98335,"OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect"],[98336,"OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection"],[98337,"OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation"],[98338,"OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug"],[98339,"OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin"],[98340,"OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity"],[98341,"OBSOLETE: Male infertility with normal virilization due to a systemic disease"],[98342,"OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury"],[98343,"Male infertility due to obstructive azoospermia",["Male infertility due to impaired sperm transport"]],[98345,"OBSOLETE: Rare idiopathic male infertility"],[98349,"Autosomal dominant isolated diffuse palmoplantar keratoderma",["Autosomal dominant isolated diffuse palmoplantar hyperkeratosis"]],[98352,"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature",["Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature"]],[98353,"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature",["Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature"]],[98356,"Autosomal recessive isolated diffuse palmoplantar keratoderma",["Autosomal recessive isolated diffuse palmoplantar hyperkeratosis"]],[98357,"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature",["Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature"]],[98360,"Constitutional anemia due to iron metabolism disorder"],[98362,"Constitutional sideroblastic anemia"],[98363,"Rare hemolytic anemia"],[98364,"Rare constitutional hemolytic anemia due to a red cell membrane anomaly"],[98365,"Hereditary stomatocytosis",["Hereditary stomatocytic disease"]],[98366,"Constitutional hemolytic anemia due to acanthocytosis",["Constitutional hemolytic anemia due to acanthocytic disorder"]],[98369,"Rare constitutional hemolytic anemia due to an enzyme disorder"],[98370,"Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies"],[98372,"Hemolytic anemia due to a disorder of glycolytic enzymes"],[98374,"Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder",["Hemolytic anemia due to an erythroenzymopathy"]],[98375,"Autoimmune hemolytic anemia",["AHA","AIHA"]],[98396,"Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder"],[98408,"Constitutional megaloblastic anemia due to folate metabolism disorder"],[98415,"Vitamin B12- and folate-independent constitutional megaloblastic anemia"],[98421,"Primary acquired red cell aplasia",["Primary autoimmune red cell aplasia"]],[98427,"Erythrocytosis",["Polycythemia"]],[98428,"OBSOLETE: Secondary polycythemia",["OBSOLETE: Secondary erythrocytosis"]],[98429,"Rare coagulation disorder"],[98434,"Hereditary combined deficiency of vitamin K-dependent clotting factors",["Hereditary combined deficiency of factors II, VII, IX and X"]],[98435,"OBSOLETE: Protease inhibitor anomaly"],[98454,"OBSOLETE: Platelet storage pool disease",["OBSOLETE: SPD"]],[98455,"Alpha granule disease"],[98456,"Dense granule disease",["Delta granule disease"]],[98464,"OBSOLETE: X-linked syndromic intellectual disability"],[98468,"OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly"],[98469,"OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly"],[98470,"OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly"],[98472,"Skeletal muscle disease"],[98473,"Muscular dystrophy"],[98482,"Idiopathic inflammatory myopathy",["IMM","Idiopathic inflammatory myositis"]],[98486,"Metabolic myopathy"],[98491,"Neuromuscular junction disease"],[98494,"Acquired neuromuscular junction disease"],[98495,"Genetic neuromuscular junction disease"],[98496,"Rare peripheral neuropathy"],[98497,"Genetic peripheral neuropathy"],[98503,"Motor neuron disease",["Anterior horn cell disease"]],[98505,"Genetic motor neuron disease",["Genetic anterior horn cell disease"]],[98506,"Acquired motor neuron disease",["Acquired anterior horn cell disease"]],[98514,"Malformation of the cerebellar vermis"],[98516,"Malformation of the cerebellar hemispheres"],[98518,"Congenital cranial dysinnervation disorder",["CCDD"]],[98519,"OBSOLETE: Posterior fossa malformation"],[98520,"OBSOLETE: Cystic malformation of the posterior fossa"],[98523,"Pontocerebellar hypoplasia",["PCH","Pontoneocerebellar atrophy","Pontoneocerebellar hypoplasia"]],[98527,"OBSOLETE: Tauopathy"],[98528,"OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration"],[98529,"OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa"],[98530,"OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa"],[98531,"OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa"],[98532,"OBSOLETE: Tauopathy with a major tau at 60 kDa"],[98534,"Neurodegenerative disease with dementia"],[98535,"Frontotemporal degeneration with dementia"],[98538,"Ataxia with dementia"],[98539,"Early-onset ataxia with dementia"],[98540,"Late-onset ataxia with dementia"],[98542,"Infectious disease with dementia"],[98543,"Metabolic disease with dementia"],[98544,"Cerebral lipidosis with dementia"],[98549,"Rare cerebrovascular dementia"],[98553,"Developmental defect of the eye"],[98554,"OBSOLETE: Major induction processes eye anomaly"],[98555,"Microphthalmia-anophthalmia-coloboma",["Anophthalmia-microphthalmia syndrome"]],[98557,"Syndromic aniridia"],[98558,"OBSOLETE: Rare eye disease due to a differentiation anomaly"],[98559,"OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease"],[98560,"Rare palpebral disorder"],[98561,"Congenital malformation of the eyelid"],[98562,"Cryptophthalmia"],[98563,"Microblepharon-ablephara syndrome"],[98564,"Eyelid border anomaly"],[98565,"Syndromic ankyloblepharon filiforme adnatum",["Syndromic ankyloblepharon"]],[98566,"Syndromic eyelid coloboma",["Syndromic palpebral coloboma"]],[98567,"Rare eyelid malposition disorder",["Eyelids malposition disorder"]],[98568,"OBSOLETE: Congenital entropion"],[98569,"OBSOLETE: Secondary entropion"],[98570,"Congenital ectropion"],[98571,"Secondary ectropion"],[98572,"OBSOLETE: Canthal anomaly"],[98573,"OBSOLETE: Epicanthal fold"],[98574,"Syndromic epicanthus"],[98575,"Syndromic telecanthus"],[98576,"Syndromic outer canthal malposition",["Malposition of external canthus"]],[98577,"OBSOLETE: Kinetic eyelid anomaly"],[98578,"Rare disorder with ptosis"],[98579,"OBSOLETE: Congenital upper palpebral retraction"],[98580,"OBSOLETE: Palpebral tumor"],[98581,"OBSOLETE: Palpebral epidermal tumor"],[98582,"OBSOLETE: Benign tumor of palpebral epidermis"],[98583,"OBSOLETE: Precancerous lesion of palpebral epidermis"],[98584,"OBSOLETE: Malignant tumor of palpebral epidermis"],[98585,"OBSOLETE: Palpebral sebaceous gland tumor"],[98586,"OBSOLETE: Pigmented palpebral tumor"],[98587,"OBSOLETE: Palpebral lentiginosis"],[98588,"OBSOLETE: Palpebral nevus"],[98589,"OBSOLETE: Palpebral malignant melanoma"],[98590,"OBSOLETE: Palpebral piliary tumor"],[98591,"OBSOLETE: Mesenchymatous palpebral tumor"],[98592,"OBSOLETE: Palpebral tumor with a vascular malformation"],[98593,"OBSOLETE: Neurogenic palpebral tumor"],[98594,"Rare eyebrow/eyelash disorder",["Rare eyebrow/eyelashes anomaly"]],[98595,"OBSOLETE: Eyebrow/eyelashes hypertrichosis"],[98596,"OBSOLETE: Eyebrow hypertrophy"],[98597,"OBSOLETE: Eyelashes hypertrophy",["OBSOLETE: Eyelashes polytrichia","OBSOLETE: Eyelashes trichomegalia"]],[98598,"OBSOLETE: Congenital absence of the eyebrow/eyelashes"],[98599,"OBSOLETE: Eyebrow/eyelashes structural anomaly"],[98600,"OBSOLETE: Eyebrow/eyelashes distichiasis"],[98601,"OBSOLETE: Eyebrow/eyelashes pigmentation anomaly"],[98602,"Rare disorder of the lacrimal apparatus",["Rare lacrimal system disease"]],[98603,"OBSOLETE: Secretory apparatus of the lacrimal system anomaly"],[98604,"Congenital alacrima"],[98605,"Lacrimal drainage system anomaly",["Excretory apparatus of the lacrimal system anomaly"]],[98606,"Syndromic orbital border hypoplasia",["Urrets-Zavalia syndrome"]],[98608,"OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system"],[98609,"EEC syndrome and related disorders",["EEC syndrome and related syndrome","Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders"]],[98610,"Rare disorder with conjunctival involvement as a major feature"],[98611,"OBSOLETE: Conjunctival vascular anomaly"],[98612,"OBSOLETE: Conjunctival hemangioma or hemolymphangioma"],[98613,"OBSOLETE: Conjunctival telangiectasia"],[98614,"OBSOLETE: Conjunctival lymphangiectasia"],[98615,"OBSOLETE: Pigmented conjunctival lesion"],[98616,"OBSOLETE: Conjunctival tumor"],[98617,"OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma"],[98618,"Rare refraction anomaly"],[98619,"Rare isolated myopia"],[98620,"OBSOLETE: Syndromic myopia"],[98621,"Rare hyperopia and astigmatism"],[98622,"Syndromic hyperopia"],[98623,"Syndromic keratoconus"],[98625,"Superficial corneal dystrophy",["Anterior corneal dystrophy"]],[98626,"Stromal corneal dystrophy"],[98627,"Posterior corneal dystrophy"],[98628,"Syndromic corneal dystrophy"],[98629,"OBSOLETE: Rare glaucoma"],[98631,"Congenital malformation of the eye with glaucoma as a major feature"],[98632,"OBSOLETE: Glaucoma associated with neural crest cell migration anomaly"],[98633,"OBSOLETE: Goniodysgenesis"],[98634,"Anterior segment developmental anomaly without extraocular manifestations"],[98635,"Corneodysgenesis",["Corneogoniodysgenesis"]],[98636,"OBSOLETE: Corneoiridogoniodysgenesis"],[98637,"OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly"],[98638,"Rare disease with glaucoma as a major feature"],[98639,"Rare lens disease"],[98640,"Rare disorder with lens opacification",["Rare cataract"]],[98641,"Syndromic cataract"],[98642,"Chromosomal anomaly with cataract"],[98643,"OBSOLETE: Systemic disease with cataract"],[98644,"Metabolic disease with cataract"],[98645,"OBSOLETE: Cerebral disease with cataract"],[98646,"Renal disease with cataract"],[98647,"OBSOLETE: Cardiac disease with cataract"],[98648,"Musculoskeletal disease with cataract"],[98649,"Dentocutaneous disease with cataract"],[98650,"Craniofacial anomaly with cataract"],[98652,"Lens size anomaly"],[98653,"Lens position anomaly"],[98655,"Lens shape anomaly"],[98657,"OBSOLETE: Genetic vitreous-retinal disease"],[98658,"Color-vision disease"],[98661,"OBSOLETE: Syndromic rod-cone dystrophy",["OBSOLETE: Syndromic retinitis pigmentosa"]],[98662,"OBSOLETE: Unclassified familial retinal dystrophy"],[98664,"OBSOLETE: Genetic macular dystrophy"],[98665,"OBSOLETE: Colobomatous and areolar dystrophy"],[98666,"OBSOLETE: Unclassified primitive or secondary maculopathy"],[98667,"OBSOLETE: Disease predisposing to age-related macular degeneration"],[98668,"Vitreoretinopathy"],[98669,"OBSOLETE: Congenital vitreoretinal dysplasia"],[98670,"OBSOLETE: Vitreoretinal degeneration"],[98671,"Hereditary optic neuropathy"],[98672,"Autosomal dominant optic atrophy",["ADOA","DOA"]],[98673,"Autosomal dominant optic atrophy, classic form",["Autosomal dominant optic atrophy, Kjer type","Kjer optic atrophy","Optic atrophy type 1"]],[98675,"OBSOLETE: Autosomal recessive optic atrophy"],[98676,"Autosomal recessive isolated optic atrophy",["Autosomal recessive non-syndromic optic atrophy"]],[98677,"OBSOLETE: Autosomal recessive syndromic optic atrophy"],[98678,"OBSOLETE: X-linked recessive optic atrophy"],[98681,"Rare disorder with strabismus"],[98682,"NON RARE IN EUROPE: Essential strabismus"],[98683,"Syndromic disorder with strabismus",["Syndrome with a symptomatic strabismus"]],[98684,"Craniostenosis with strabismus"],[98685,"Rare oculomotor nerve disorder"],[98686,"Congenital trochlear nerve palsy",["Congenital CNIV palsy","Congenital fourth cranial nerve palsy","Congenital superior oblique palsy"]],[98687,"Supranuclear eye movement disorder"],[98688,"Oculomotor apraxia"],[98689,"OBSOLETE: Myopathy with eye involvement"],[98690,"OBSOLETE: Myasthenic syndrome with eye involvement"],[98691,"OBSOLETE: Abnormal eye movements"],[98692,"OBSOLETE: Nervous system anomaly with eye involvement"],[98693,"OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly"],[98694,"OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly"],[98695,"OBSOLETE: Mitochondrial disease with eye involvement"],[98696,"OBSOLETE: Genodermatosis with ocular features"],[98697,"OBSOLETE: Genetic keratinization disorder associated with ocular features"],[98698,"OBSOLETE: Ichthyosis associated with ocular features"],[98699,"OBSOLETE: Syndromic ichthyosis associated with ocular features"],[98700,"OBSOLETE: Pigmentation disorder with eye involvement"],[98701,"OBSOLETE: Phakomatosis with eye involvement"],[98702,"OBSOLETE: Connective tissue disease with eye involvement"],[98703,"OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features"],[98704,"OBSOLETE: Onycho-patellar syndrome with eye involvement"],[98706,"Oculocutaneous or ocular albinism"],[98708,"OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism"],[98709,"OBSOLETE: Ectodermal malformation syndrome associated with ocular features"],[98710,"OBSOLETE: Metabolic disease associated with ocular features"],[98711,"OBSOLETE: Metabolic disease with corneal opacity"],[98712,"OBSOLETE: Metabolic disease with cataract"],[98713,"OBSOLETE: Metabolic disease with pigmentary retinitis"],[98714,"OBSOLETE: Metabolic disease with macular cherry-red spot"],[98715,"Uveitis"],[98716,"Heart position anomaly"],[98717,"Transposition of the great arteries and conotruncal cardiac anomaly"],[98718,"Aortic malformation"],[98719,"Pulmonary artery or pulmonary branch anomaly"],[98720,"Atrioventricular valve anomaly"],[98721,"Congenital tricuspid malformation"],[98722,"Atrioventricular septal defect",["AVSD","Atrioventricular canal defect"]],[98723,"Hypoplastic right heart syndrome"],[98724,"Congenital anomaly of the great arteries",["Congenital aorta, aortic arch or pulmonary arteries anomaly"]],[98725,"Ascending aorta anomaly"],[98726,"OBSOLETE: Pulmonary artery/pulmonary branch anomaly"],[98727,"Rare atrial defect and interatrial communication",["Atrial defect and interauricular communication"]],[98729,"Congenital pulmonary veins anomaly"],[98730,"OBSOLETE: Atrioventricular discordance"],[98731,"OBSOLETE: Congenital arteriovenous fistula"],[98732,"OBSOLETE: Syndrome associated with a congenital cardiopathy"],[98733,"Noonan syndrome and Noonan-related syndrome"],[98734,"OBSOLETE: Cardioskeletal syndrome"],[98736,"OBSOLETE: Genetic neurological channelopathy"],[98737,"Genetic neurological muscular channelopathy"],[98738,"Neurological muscular channelopathy due to a genetic sodium channel defect"],[98739,"Neurological muscular channelopathy due to a genetic chloride channel defect"],[98740,"Neurological muscular channelopathy due to a genetic calcium channel defect"],[98741,"Neurological muscular channelopathy due to a genetic potassium channel defect"],[98742,"Neurological muscular channelopathy due to a genetic ryanodine receptor defect"],[98743,"Genetic neurological channelopathy of the central nervous system"],[98744,"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect"],[98745,"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect"],[98746,"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect"],[98747,"Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect"],[98748,"Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect"],[98749,"Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect"],[98750,"Autoimmune neurological channelopathy"],[98751,"OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect"],[98752,"OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect"],[98753,"OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect"],[98754,"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15",["UPD(15)mat"]],[98755,"Spinocerebellar ataxia type 1",["SCA1"]],[98756,"Spinocerebellar ataxia type 2",["SCA2"]],[98757,"Spinocerebellar ataxia type 3",["Azorean disease of the nervous system","MJD","Machado disease","Machado-Joseph disease","Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia","SCA3"]],[98758,"Spinocerebellar ataxia type 6",["SCA6"]],[98759,"Spinocerebellar ataxia type 17",["HDL4","Huntington disease-like 4","SCA17"]],[98760,"Spinocerebellar ataxia type 8",["SCA8"]],[98761,"Spinocerebellar ataxia type 10",["SCA10"]],[98762,"Spinocerebellar ataxia type 12",["SCA12"]],[98763,"Spinocerebellar ataxia type 14",["SCA14"]],[98764,"Spinocerebellar ataxia type 27A",["SCA27A"]],[98765,"Spinocerebellar ataxia type 4",["SCA4"]],[98766,"Spinocerebellar ataxia type 5",["SCA5"]],[98767,"Spinocerebellar ataxia type 11",["SCA11"]],[98768,"Spinocerebellar ataxia type 13",["SCA13"]],[98769,"Spinocerebellar ataxia type 15/16",["SCA15/16"]],[98770,"Spinocerebellar ataxia type 16",["SCA16"]],[98771,"Spinocerebellar ataxia type 18",["SCA18"]],[98772,"Spinocerebellar ataxia type 19/22",["SCA19/22"]],[98773,"Spinocerebellar ataxia type 21",["SCA21"]],[98784,"Sleep-related hypermotor epilepsy",["ADNFLE","Autosomal dominant nocturnal frontal lobe epilepsy","Autosomal dominant sleep-related hypermotor epilepsy","SHE"]],[98788,"Pitt-Rogers-Danks syndrome",["Intellectual disability-dysmorphism-intrauterine growth retardation syndrome"]],[98791,"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16",["ATR syndrome linked to chromosome 16","ATR syndrome, deletion type","ATR-16 syndrome","Alpha thalassemia-intellectual disability syndrome, deletion type"]],[98793,"Prader-Willi syndrome due to paternal 15q11q13 deletion"],[98794,"Angelman syndrome due to maternal 15q11q13 deletion",["Angelman syndrome due to maternal monosomy 15q11q13"]],[98795,"Angelman syndrome due to paternal uniparental disomy of chromosome 15",["UPD(15)pat"]],[98797,"Isochromosomy Yp syndrome"],[98798,"Isochromosomy Yq syndrome"],[98805,"Primary dystonia, DYT4 type",["DYT4","Hereditary whispering dysphonia"]],[98806,"Primary dystonia, DYT6 type",["DYT6","Generalized cervical and upper-limb-onset dystonia","Idiopathic torsion dystonia of mixed type"]],[98807,"Primary dystonia, DYT13 type",["DYT13","Primary dystonia with mixed phenotype","Primary torsion dystonia with predominant craniocervical or upper limb onset"]],[98808,"Autosomal dominant dopa-responsive dystonia",["Autosomal dominant Segawa syndrome","DYT5a","GTPCH1-deficient DRD","GTPCH1-deficient dopa-responsive dystonia","HPD with marked diurnal fluctuation","Hereditary progressive dystonia with marked diurnal fluctuation"]],[98809,"Paroxysmal kinesigenic dyskinesia",["Familial PKD","Familial paroxysmal kinesigenic dyskinesia","Paroxysmal kinesigenic choreathetosis"]],[98810,"Paroxysmal non-kinesigenic dyskinesia",["Paroxystic non-kinesigenic choreoathetosis"]],[98811,"Paroxysmal exertion-induced dyskinesia",["DYT18","Dystonia 18","PED"]],[98812,"Paroxysmal hypnogenic dyskinesia",["Nocturnal paroxysmal dystonia","Paroxysmal hypnagogic dyskinesia","Paroxysmal hypnagogic dystonia","Paroxysmal nocturnal dyskinesia"]],[98813,"Hypohidrotic ectodermal dysplasia with immunodeficiency",["HED-ID"]],[98815,"Self-limited epilepsy with autonomic seizures",["Benign childhood occipital epilepsy, Panayiotopoulos type","Early-onset benign childhood occipital epilepsy","Panayiotopoulos syndrome","SeLEAS"]],[98816,"Childhood occipital visual epilepsy",["COVE","Idiopathic chilldhood occipital epilepsy-Gastaut type","Late-onset benign childhood occipital epilepsy"]],[98818,"Landau-Kleffner syndrome",["Acquired epileptic aphasia","LKS"]],[98819,"Familial temporal lobe epilepsy"],[98820,"Familial focal epilepsy with variable foci",["FFEVF","Familial partial epilepsy with variable foci"]],[98823,"Chronic myelomonocytic leukemia",["CMML"]],[98824,"Atypical chronic myeloid leukemia",["Subacute myeloid leukemia"]],[98825,"Unclassified myelodysplastic/myeloproliferative disease",["Unclassified mixed myelodysplastic/myeloproliferatic syndrome"]],[98826,"Myelodysplastic neoplasm with low blasts",["MDS-LB","Refractory anemia"]],[98827,"Unclassified myelodysplastic syndrome"],[98829,"Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)",["AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"]],[98831,"Acute myeloid leukemia with 11q23 abnormalities",["AML with 11q23 abnormalities"]],[98832,"Acute myeloid leukemia with minimal differentiation",["AML M0","Minimally differentiated acute myeloblastic leukemia"]],[98833,"Acute myeloblastic leukemia without maturation",["AML M1","Acute myeloblastic leukemia M1"]],[98834,"Acute myeloblastic leukemia with maturation",["AML M2","Acute myeloblastic leukemia M2"]],[98835,"Acute undifferentiated leukemia",["Acute myeloid leukemia, minimal differentiation, FAB M0"]],[98836,"Bilineal acute leukemia"],[98837,"Acute biphenotypic leukemia"],[98838,"Primary mediastinal large B-cell lymphoma",["Large cell lymphoma of the mediastinum","Med-DLBCL","Mediastinal diffuse large-cell lymphoma with sclerosis","Primary mediastinal clear cell lymphoma of B-cell type"]],[98839,"Intravascular large B-cell lymphoma",["Angioendotheliomatosis proliferans systemisata","Angiotropic large cell lymphoma","Intravascular lymphomatosis","Malignant angioendotheliomatosis","Tappeiner-Pfleger disease"]],[98841,"Anaplastic large cell lymphoma",["ALCL","CD30 positive anaplastic large cell lymphoma","Ki-1 positive anaplastic large cell lymphoma","Primary systemic ALCL","sACL"]],[98842,"Lymphomatoid papulosis",["LyP"]],[98843,"Classic Hodgkin lymphoma, nodular sclerosis type"],[98844,"Classic Hodgkin lymphoma, mixed cellularity type"],[98845,"Classic Hodgkin lymphoma, lymphocyte-rich type"],[98846,"Classic Hodgkin lymphoma, lymphocyte-depleted type"],[98848,"Indolent systemic mastocytosis"],[98849,"Systemic mastocytosis with associated hematologic neoplasm",["SM-AHN","SM-AHNMD","Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease"]],[98850,"Aggressive systemic mastocytosis"],[98851,"Mast cell leukemia"],[98852,"Desquamative interstitial pneumonia"],[98853,"Autosomal dominant Emery-Dreifuss muscular dystrophy",["EDMD2"]],[98855,"Autosomal recessive Emery-Dreifuss muscular dystrophy",["EDMD3"]],[98856,"Charcot-Marie-Tooth disease type 2B1",["AR-CMT2B1","Autosomal recessive Charcot-Marie-Tooth disease type 2B1","Autosomal recessive axonal CMT4C1"]],[98861,"Primary ciliary dyskinesia, Kartagener type",["Dextrocardia-bronchiectasis-sinusitis syndrome","Immotile cilia syndrome, Kartagener type","Kartagener syndrome","Siewert syndrome"]],[98863,"X-linked Emery-Dreifuss muscular dystrophy"],[98864,"Common hereditary elliptocytosis"],[98865,"Homozygous hereditary elliptocytosis"],[98866,"OBSOLETE: Spherocytic elliptocytosis"],[98867,"Hereditary pyropoikilocytosis"],[98868,"Southeast Asian ovalocytosis",["Hereditary ovalocytosis","Melanesian elliptocytosis","Melanesian ovalocytosis","SAO","Stomatocytic elliptocytosis"]],[98869,"Congenital dyserythropoietic anemia type I",["CDA I","CDA type 1","CDA type I","Congenital dyserythropoietic anemia type 1"]],[98870,"Congenital dyserythropoietic anemia type III",["CDA III","CDA type 3","CDA type III","Congenital dyserythropoietic anemia type 3"]],[98871,"Transient erythroblastopenia of childhood",["Transient acquired pure red cell aplasia"]],[98872,"Primary acquired pure red cell aplasia",["Primary acquired PRCA"]],[98873,"Congenital dyserythropoietic anemia type II",["CDA II","CDA type 2","CDA type II","Congenital dyserythropoietic anemia type 2","Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)","SEC23B-CDG"]],[98878,"Hemophilia A",["Congenital F8 deficiency","Congenital FVIII deficiency","Congenital Factor VIII deficiency"]],[98879,"Hemophilia B",["Congenital F9 deficiency","Congenital factor IX deficiency","Christmas disease"]],[98880,"Familial afibrinogenemia"],[98881,"Familial dysfibrinogenemia"],[98885,"Bleeding diathesis due to glycoprotein VI deficiency"],[98886,"Bleeding diathesis due to integrin alpha2-beta1 deficiency"],[98888,"X-linked complex spastic paraplegia",["Complex X-linked HSP","Complex X-linked SPG","Complicated X-linked HSP","Complicated X-linked SPG","X-linked complicated spastic paraplegia"]],[98889,"Bilateral perisylvian polymicrogyria"],[98890,"Early-onset X-linked optic atrophy",["OPA2","Optic atrophy type 2","Non-Leber type optic atrophy with early-onset"]],[98892,"Periventricular nodular heterotopia",["PVNH"]],[98893,"Congenital muscular dystrophy type 1B",["CMD1B","MDC1B"]],[98894,"Congenital muscular dystrophy type 1D",["MDC1D"]],[98895,"Becker muscular dystrophy",["BMD","Becker dystrophinopathy"]],[98896,"Duchenne muscular dystrophy",["DMD","Severe dystrophinopathy, Duchenne type"]],[98897,"Oculopharyngodistal myopathy",["OPDM","Oculopharyngeal distal myopathy"]],[98902,"Amish nemaline myopathy"],[98904,"Congenital myopathy with excess of thin filaments",["Actin myopathy"]],[98905,"Congenital multicore myopathy with external ophthalmoplegia"],[98907,"Neutral lipid storage disease with ichthyosis",["CDS","Chanarin-Dorfman syndrome","DCS","Dorfman-Chanarin syndrome","NLSDI"]],[98908,"Neutral lipid storage disease with myopathy",["Adipose triglyceride lipase deficiency","NLSDM","Neutral lipid storage disease type M","Neutral lipid storage disease with myopathy without ichthyosis"]],[98909,"Desminopathy",["Desmin-related myofibrillar myopathy"]],[98910,"Alpha-crystallinopathy",["CRYAB-related myofobrillar myopathy"]],[98911,"Distal myotilinopathy"],[98912,"Late-onset distal myopathy, Markesbery-Griggs type",["ZASP-related myofibrillar myopathy"]],[98913,"Postsynaptic congenital myasthenic syndrome"],[98914,"Presynaptic congenital myasthenic syndrome"],[98915,"Synaptic congenital myasthenic syndrome"],[98916,"Acute inflammatory demyelinating polyradiculoneuropathy",["AIDP","Acute idiopathic demyelinating polyneuropathy","Acute inflammatory polyneuropathy","GBS, acute inflammatory demyelinating polyradiculoneuropathic form","Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form"]],[98917,"Acute motor and sensory axonal neuropathy",["AMSAN","Acute motor-sensory axonal GBS","Acute motor-sensory axonal Guillain-Barré syndrome"]],[98918,"Acute motor axonal neuropathy",["AMAN","Acute pure motor GBS","Acute pure motor Guillain-Barré syndrome"]],[98919,"Miller Fisher syndrome",["Cranial variant of GBS","Cranial variant of Guillain-Barré syndrome","Fisher syndrome"]],[98920,"Spinal muscular atrophy with respiratory distress type 1",["Autosomal recessive distal spinal muscular atrophy type 1","Autosomal recessive spinal muscular atrophy with respiratory distress","Diaphragmatic spinal muscular atrophy","Distal hereditary motor neuropathy type 6","Distal-HMN type 6","SIANRF","SMARD1","Severe infantile axonal neuropathy with respiratory failure type 1","dHMN6","dSMA1"]],[98922,"Blake pouch cyst"],[98932,"OBSOLETE: Shy-Drager syndrome",["OBSOLETE: MSA-urinary dysfunction syndrome","OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome"]],[98933,"Multiple system atrophy, parkinsonian type",["MSA, parkinsonian type","MSA-p"]],[98934,"Huntington disease-like 2",["HDL2"]],[98938,"Isolated colobomatous microphthalmia",["Isolated microphthalmia with colobomatous cyst"]],[98941,"OBSOLETE: Von Hippel anomaly"],[98942,"Coloboma of choroid and retina"],[98943,"Coloboma of eye lens"],[98944,"Coloboma of iris"],[98945,"Coloboma of macula"],[98946,"Coloboma of eyelid"],[98947,"Coloboma of optic disc",["Coloboma of optic papilla"]],[98948,"Congenital symblepharon"],[98949,"Complete cryptophthalmia"],[98950,"Partial cryptophthalmia"],[98951,"Inverse Marcus-Gunn phenomenon"],[98954,"Meesmann corneal dystrophy",["Juvenile hereditary epithelial dystrophy of Meesmann","MECD"]],[98955,"Lisch epithelial corneal dystrophy",["Band-shaped and whorled microcystic dystrophy of the corneal epithelium","LECD"]],[98956,"Epithelial basement membrane dystrophy",["Anterior basement membrane dystrophy","Cogan microcystic epithelial dystrophy","EBMD","Map-dot-fingerprint dystrophy"]],[98957,"Gelatinous drop-like corneal dystrophy",["GDCD","Primary familial amyloidosis of the cornea","Subepithelial amyloidosis of the cornea"]],[98958,"Climatic droplet keratopathy",["Honey-droplet corneal dystrophy"]],[98959,"Subepithelial mucinous corneal dystrophy",["SMCD"]],[98960,"Thiel-Behnke corneal dystrophy",["Anterior limiting membrane dystrophy type 2","Anterior limiting membrane dystrophy type II","Corneal dystrophy of Bowman layer type 2","Corneal dystrophy of Bowman layer type II","Curly fiber corneal dystrophy","Honeycomb corneal dystrophy","TBCD","Waardenburg-Jonker corneal dystrophy"]],[98961,"Reis-Bücklers corneal dystrophy",["Anterior limiting membrane dystrophy type 1","Anterior limiting membrane dystrophy type I","Atypical granular corneal dystrophy","Corneal dystrophy of Bowman layer type 1","Corneal dystrophy of Bowman layer type I","Geographic corneal dystrophy","Granular corneal dystrophy type 3","Granular corneal dystrophy type III","RBCD","Superficial granular corneal dystrophy"]],[98962,"Granular corneal dystrophy type I",["Classic GCD","Classic granular corneal dystrophy","Corneal dystrophy Groenouw type I","GCD1","GCDI","Granular corneal dystrophy type 1"]],[98963,"Granular corneal dystrophy type II",["Avellino corneal dystrophy","GCD2","GCDII","Granular corneal dystrophy type 2","Granular-lattice corneal dystrophy"]],[98964,"Lattice corneal dystrophy type I",["Biber-Haab-Dimmer dystrophy","Classic lattice corneal dystrophy","LCD1","LCDI","Lattice corneal dystrophy type 1"]],[98967,"Schnyder corneal dystrophy",["Crystalline stromal dystrophy","Hereditary crystalline stromal dystrophy of Schnyder","SCCD","SCD","Schnyder crystalline corneal dystrophy","Schnyder crystalline dystrophy sine crystals"]],[98968,"Central discoid corneal dystrophy"],[98969,"Macular corneal dystrophy",["Corneal dystrophy Groenouw type II","Fehr corneal dystrophy","MCD"]],[98970,"Fleck corneal dystrophy",["FCD","François-Neetens speckled corneal dystrophy"]],[98971,"Posterior amorphous corneal dystrophy",["PACD","Posterior amorphous stromal dystrophy"]],[98972,"Central cloudy dystrophy of François",["CCDF","Central cloudy corneal dystrophy of François"]],[98973,"Posterior polymorphous corneal dystrophy",["PPCD","Posterior polymorphous dystrophy","Schlichting dystrophy"]],[98974,"Fuchs endothelial corneal dystrophy",["Endoepithelial corneal dystrophy","FECD","Late hereditary endothelial dystrophy"]],[98975,"Congenital hereditary endothelial dystrophy type I",["Autosomal dominant CHED","Autosomal dominant congenital hereditary endothelial dystrophy","CHED1","CHEDI","Congenital hereditary endothelial dystrophy type 1"]],[98976,"Congenital glaucoma",["Buphthalmia","Buphthalmos","Buphthalmus","Primary congenital glaucoma"]],[98977,"Juvenile glaucoma"],[98978,"Axenfeld anomaly"],[98979,"Chandler syndrome"],[98980,"Cogan-Reese syndrome"],[98981,"Essential iris atrophy"],[98983,"OBSOLETE: Congenital cataract, Volkmann type"],[98984,"Pulverulent cataract",["Coppock-like cataract","Dusty cataract"]],[98985,"Early-onset sutural cataract",["Early-onset cataract with Y-shaped suture opacities"]],[98986,"OBSOLETE: Coppock-like cataract"],[98987,"OBSOLETE: Cataract, Hutterite type"],[98988,"Early-onset anterior polar cataract",["Early-onset anterior subcapsular cataract"]],[98989,"Cerulean cataract",["Blue-dot cataract"]],[98990,"Coralliform cataract"],[98991,"Early-onset nuclear cataract"],[98992,"Early-onset partial cataract"],[98993,"Early-onset posterior polar cataract"],[98994,"Total early-onset cataract"],[98995,"Early-onset zonular cataract"],[99000,"Adult-onset foveomacular vitelliform dystrophy",["AOFMD","AVMD","Adult-onset foveomacular dystrophy","Adult-onset foveomacular dystrophy with choroidal neovascularization","Adult-onset vitelliform macular dystrophy","Gass disease","Pseudo-Best disease","Pseudo-vitelliform macular dystrophy"]],[99001,"Butterfly-shaped pigment dystrophy",["Butterfly-shaped pattern dystrophy","Butterfly-shaped pigmentary macular dystrophy"]],[99002,"Reticular dystrophy of the retinal pigment epithelium"],[99003,"Multifocal pattern dystrophy simulating fundus flavimaculatus",["Multifocal pattern dystrophy simulating Stargardt disease"]],[99004,"Fundus pulverulentus"],[99012,"OBSOLETE: Autosomal recessive optic atrophy, OPA6 type"],[99013,"Spastic paraplegia type 7",["SPG7"]],[99014,"X-linked Charcot-Marie-Tooth disease type 5",["CMT5X","CMTX5"]],[99015,"Spastic paraplegia type 2",["SPG2","Spastic gait type 2","Spastic paraparesis type 2","X-linked spastic paraplegia type 2"]],[99022,"OBSOLETE: Niemann-Pick disease type E"],[99027,"Adult-onset autosomal dominant leukodystrophy",["ADLD","Adult-onset autosomal dominant demyelinating leukodystrophy"]],[99042,"Congenitally uncorrected transposition of the great arteries with coarctation",["Congenitally uncorrected transposition of the great vessels with coarctation","TGA with coarctation"]],[99043,"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis",["DORV with subaortic or doubly committed VSD with pulmonary stenosis","DORV, Fallot type","Double outlet right ventricle, Fallot type"]],[99044,"Double outlet right ventricle with subaortic ventricular septal defect"],[99045,"Double outlet right ventricle with subpulmonary ventricular septal defect",["DORV-TGA","Double outlet right ventricle with transposition of the great arteries","Taussig-Bing syndrome","DORV with subpulmonary VSD"]],[99046,"Double outlet right ventricle with non-committed subpulmonary ventricular septal defect",["DORV with non-committed subpulmonary VSD"]],[99047,"Double outlet right ventricle with doubly committed ventricular septal defect"],[99048,"Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome",["APV/PDA, non-Fallot type"]],[99049,"Pulmonary artery coming from patent ductus arteriosus"],[99050,"Abnormal origin of right or left pulmonary artery from the aorta",["Hemitruncus arteriosus","Pulmonary artery coming from the aorta"]],[99051,"Discrete fixed membranous subaortic stenosis"],[99052,"Discrete fibromuscular subaortic stenosis"],[99053,"Tunnel subaortic stenosis"],[99054,"Valvular pulmonary stenosis"],[99055,"Congenital anomaly of the tricuspid valve chordae",["Congenital anomaly of tricuspid chordae tendineae","Congenital anomaly of tricuspid tendinous chords"]],[99056,"Parachute tricuspid valve"],[99057,"Congenital mitral stenosis"],[99058,"Hypoplasia of the mitral valve annulus"],[99059,"Congenital supravalvular mitral ring"],[99060,"Congenital unguarded mitral orifice"],[99061,"Accessory mitral valve tissue"],[99062,"Mitral valve agenesis"],[99063,"Shone complex"],[99064,"Straddling and/or overriding mitral valve"],[99066,"OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome",["OBSOLETE: CAVC-left heart obstruction syndrome"]],[99067,"Complete atrioventricular septal defect with ventricular hypoplasia",["CAVC with ventricular hypoplasia","Complete AVSD with ventricular hypoplasia","Complete atrioventricular canal defect with ventricular hypoplasia","Complete atrioventricular septal defect with ventricular imbalance","Unbalanced complete atrioventricular canal"]],[99068,"Complete atrioventricular septal defect-tetralogy of Fallot",["CAVC-tetralogy of Fallot","Complete AVSD-tetralogy of Fallot","Complete atrioventricular canal defect-tetralogy of Fallot"]],[99069,"OBSOLETE: Univentricular heart with single atrio-ventricular valve"],[99070,"Aorto-right ventricular tunnel"],[99071,"Aorto-left ventricular tunnel"],[99072,"Congenital patent ductus arteriosus aneurysm"],[99075,"Encircling double aortic arch"],[99076,"Persistent fifth aortic arch"],[99077,"Kommerell diverticulum"],[99078,"Neuhauser anomaly"],[99079,"Cervical aortic arch"],[99081,"Right aortic arch"],[99082,"Dysphagia lusoria"],[99083,"Pulmonary artery hypoplasia",["PAH","Unilateral Pulmonary Artery Hypoplasia"]],[99084,"Peripheral pulmonary stenosis",["Branch pulmonary artery stenosis","Pulmonary branch stenosis"]],[99085,"OBSOLETE: Coronary artery intramyocardial course"],[99086,"OBSOLETE: Aortopulmonary coronary arterial course"],[99087,"Coronary ostial stenosis or atresia",["COSA","Congenital coronary arterial orifice stenosis or atresia","Congenital stenosis or atresia of a coronary ostium"]],[99088,"OBSOLETE: Intramural coronary arterial course"],[99089,"Abnormal number of coronary ostia"],[99090,"Malposition of a coronary ostium"],[99092,"Interventricular septum aneurysm"],[99094,"Laubry-Pezzi syndrome",["VSD with aortic insufficiency","Ventricular septal defect with aortic insufficiency"]],[99095,"Congenital Gerbode defect",["Left ventricular-to-right atrial communication"]],[99096,"OBSOLETE: Multiple ventricular septal defects"],[99097,"OBSOLETE: Single ventricular septal defect"],[99098,"Cor triatriatum dexter",["Cor triatriatum dextrum","Divided right atrium"]],[99099,"Cor triatriatum sinister",["Cor triatriatum sinistrum","Divided left atrium"]],[99100,"Juxtaposition of the atrial appendages",["Juxtaposition of the atrial auricles"]],[99101,"Ectasia of the right atrial appendage",["Dilatation of the right atrial appendage","Dilatation of the right atrial auricle","Ectasia of the right atrial auricle"]],[99102,"Ectasia of the left atrial appendage",["Dilatation of the left atrial appendage","Dilatation of the left auricle","Ectasia of the left auricle"]],[99103,"Atrial septal defect, ostium secundum type",["ASD, ostium secundum type"]],[99104,"Atrial septal defect, coronary sinus type",["ASD, coronary sinus type","Unroofed coronary sinus"]],[99105,"Atrial septal defect, sinus venosus type",["ASD, sinus venosus type"]],[99106,"Atrial septal defect, ostium primum type",["ASD, ostium primum type"]],[99107,"Atrial septal aneurysm"],[99108,"NON RARE IN EUROPE: Patent foramen ovale"],[99109,"Persistent left superior vena cava connecting through coronary sinus to left-sided atrium",["Persistent left SVC connecting through coronary sinus to left-sided atrium"]],[99110,"Right superior vena cava connecting to left-sided atrium",["Right SVC connecting to left-sided atrium","Right superior caval vein connecting to left-sided atrium"]],[99111,"Persistent left superior vena cava connecting to the roof of left-sided atrium",["Persistent left SVC connecting to left-sided atrium","Persistent left SVC connecting to the roof of left-sided atrium","Persistent left superior vena cava connecting to left-sided atrium"]],[99112,"Absence of innominate vein",["Absence of brachiocephalic vein"]],[99113,"Subaortic course of innominate vein",["Subaortic course of brachiocephalic vein"]],[99114,"Agenesis of the superior vena cava",["Absence of the SVC","Absence of the superior caval vein","Absence of the superior vena cava","Agenesis of the SVC","Agenesis of the superior caval vein"]],[99117,"Coronary sinus stenosis"],[99118,"Coronary sinus atresia"],[99119,"Right inferior vena cava connecting to left-sided atrium",["Right IVC connecting to left-sided atrium","Right inferior caval vein connecting to left-sided atrium"]],[99120,"Persistent eustachian valve"],[99121,"Azygos continuation of the inferior vena cava",["Azygos continuation of the IVC","Azygos continuation of the inferior caval vein","Inferior vena cava interruption with azygos continuation"]],[99122,"Congenital stenosis of the inferior vena cava",["Congenital stenosis of the IVC","Congenital stenosis of the inferior caval vein"]],[99123,"Inferior vena cava interruption without azygos continuation",["IVC interruption","Inferior caval vein interruption"]],[99124,"Congenital partial pulmonary venous return anomaly"],[99125,"Congenital total pulmonary venous return anomaly"],[99126,"Congenital pulmonary vein atresia",["CPVA","Congenital PVA"]],[99129,"Congenital complete agenesis of pericardium"],[99130,"Congenital partial agenesis of pericardium"],[99131,"Pleuro-pericardial cyst"],[99134,"OBSOLETE: Intermediate stomatocytosis syndrome"],[99135,"6-phosphogluconate dehydrogenase deficiency"],[99138,"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"],[99139,"OBSOLETE: Unstable hemoglobin disease"],[99141,"Lymphedema-posterior choanal atresia syndrome"],[99142,"Microcephaly-cutis verticis gyrata-lymphedema syndrome"],[99143,"OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome"],[99146,"OBSOLETE: Platelet function disease associated with renal insufficiency"],[99147,"Acquired von Willebrand syndrome",["Acquired von Willebrand disease"]],[99151,"NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging"],[99166,"NON RARE IN EUROPE: Familial combined hyperlipoproteinemia"],[99169,"Epiblepharon"],[99170,"Tarsal kink syndrome"],[99171,"Isolated congenital ectropion"],[99172,"Euryblepharon"],[99176,"Congenital eyelid retraction"],[99177,"Isolated distichiasis"],[99179,"Kandori fleck retina"],[99226,"Monosomy X syndrome"],[99228,"Mosaic monosomy X syndrome"],[99324,"Paternal uniparental disomy of chromosome 13 syndrome",["UPD(13)pat"]],[99329,"48,XYYY syndrome"],[99330,"49,XYYYY syndrome"],[99361,"Isolated familial medullary thyroid carcinoma",["Hereditary isolated MTC","Isolated familial MTC"]],[99408,"Pituitary adenoma"],[99413,"Turner syndrome due to structural X chromosome anomalies"],[99429,"Complete androgen insensitivity syndrome",["CAIS","Complete androgen resistance syndrome"]],[99642,"Spondyloepimetaphyseal dysplasia, Handigodu type"],[99645,"Dappled diaphyseal dysplasia"],[99646,"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria",["MC-HGA"]],[99647,"Cheirospondyloenchondromatosis",["Enchondromatosis Spranger, type VI","Generalized enchondromatosis with platyspondyly"]],[99648,"OBSOLETE: Non-progressive congenital heart block"],[99649,"OBSOLETE: Generalized epilepsy and praxis-induced seizures"],[99650,"OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy"],[99651,"OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder"],[99654,"OBSOLETE: Fibrocalculous pancreatopathy",["OBSOLETE: FCPD","OBSOLETE: Fibrocalculous pancreatic diabetes","OBSOLETE: Tropical pancreatic diabetes"]],[99657,"Primary dystonia, DYT2 type",["DYT2"]],[99662,"OBSOLETE: Posterior fossa tumors"],[99663,"OBSOLETE: Vestibular torticollis"],[99664,"OBSOLETE: Trochlear nerve palsy"],[99665,"NON RARE IN EUROPE: Ventral hernia"],[99666,"OBSOLETE: Atlantoaxial subluxation"],[99672,"Fried's tooth and nail syndrome"],[99688,"Dermotrichic syndrome"],[99694,"Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome"],[99701,"Mesial temporal lobe epilepsy with hippocampal sclerosis",["HS-MTLE","Hippocampal sclerosis-related mesial temporal lobe epilepsy","MTLE-HS"]],[99704,"Early-onset obesity-hyperphagia-severe developmental delay syndrome",["OBHD"]],[99706,"OBSOLETE: Progeria-associated arthropathy"],[99710,"Punctate acrokeratoderma freckle-like pigmentation"],[99715,"MASS syndrome",["Mitral valve-aorta-skeleton-skin syndrome"]],[99718,"Leber plus disease",["LHON plus disease"]],[99722,"OBSOLETE: Sporadic achalasia"],[99723,"OBSOLETE: Familial esophageal achalasia"],[99725,"Pituitary gigantism",["Hypophyseal gigantism","Infantile and juvenile forms of acromegaly"]],[99731,"Isolated sulfite oxidase deficiency",["ISOD","Sulfocysteinuria"]],[99732,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency",["Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase","MOCOD"]],[99734,"Myotonia fluctuans",["Exercise-induced delayed-onset myotonia","Fluctuating myotonia"]],[99735,"Myotonia permanens"],[99736,"Acetazolamide-responsive myotonia",["ACZ-responsive congenital myotonia","ACZ-responsive myotonia","Acetazolamide-responsive congenital myotonia","Myotonia-painful contractions syndrome","Painful congenital myotonia","Painful myotonia"]],[99739,"Rare familial disorder with hypertrophic cardiomyopathy",["Rare familial disorder with hypertrophic obstructive cardiomyopathy","Rare familial disorder with hypertrophic subaortic stenosis"]],[99741,"King-Denborough syndrome",["Koussef-Nichols syndrome"]],[99742,"Amish lethal microcephaly"],[99745,"Typhoid",["Typhoid fever","Typhoidal salmonellosis"]],[99748,"Pontiac fever",["Non-pneumonic Legionnaires' disease"]],[99749,"Kostmann syndrome",["Infantile agranulocytosis","Severe congenital neutropenia type 3"]],[99750,"Atypical progressive supranuclear palsy syndrome",["Atypical PSP syndrome"]],[99756,"Alveolar rhabdomyosarcoma"],[99757,"Embryonal rhabdomyosarcoma"],[99763,"OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1",["OBSOLETE: 18-hydroxylase deficiency","OBSOLETE: 18-oxidase deficiency","OBSOLETE: Aldosterone synthase deficiency","OBSOLETE: CMO I","OBSOLETE: CMO II","OBSOLETE: Corticosterone methyloxidase deficiency type I","OBSOLETE: FHHA1"]],[99764,"OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2",["OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2","OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene","OBSOLETE: FHHA2"]],[99771,"Bifid uvula",["Bifidity of the uvula","Uvular cleft"]],[99772,"Cleft velum",["Cleft soft palate","Cleft velum palatinum"]],[99776,"Mosaic trisomy 9 syndrome",["Mosaic trisomy chromosome 9","Trisomy 9 mosaicism"]],[99777,"Achalasia-alacrimia syndrome"],[99781,"OBSOLETE: Familial articular chondrocalcinosis type 1",["OBSOLETE: CCAL1"]],[99782,"OBSOLETE: Familial articular chondrocalcinosis type 2",["OBSOLETE: CCAL2"]],[99789,"Dentin dysplasia type I",["DD-I","DTDP1","Radicular dentin dysplasia"]],[99791,"Dentin dysplasia type II",["DD-II","DTDP2"]],[99792,"Dentin dysplasia-sclerotic bones syndrome"],[99796,"Subcortical band heterotopia",["Subcortical laminar heterotopia"]],[99797,"Anodontia"],[99798,"Oligodontia",["Selective tooth agenesis"]],[99802,"Hemimegalencephaly",["Unilateral megalencephaly"]],[99803,"Haddad syndrome",["Congenital central alveolar hypoventilation-Hirschsprung disease syndrome","Ondine-Hirschsprung disease","Ondine-Hirschsprung syndrome"]],[99806,"Oculootodental syndrome",["OOD"]],[99807,"PEHO-like syndrome"],[99810,"Familial porencephaly"],[99811,"Neuronal intestinal pseudoobstruction"],[99812,"LIG4 syndrome",["DNA ligase IV syndrome","SCID with macrocephaly due to DNA ligase IV deficiency"]],[99817,"Non-polyposis Turcot syndrome"],[99818,"Turcot syndrome with polyposis"],[99819,"Familial gestational hyperthyroidism"],[99824,"Lassa fever",["LF","Lassa hemorrhagic fever"]],[99825,"Nipah virus disease",["Nipah encephalitis","Nipah fever"]],[99826,"Marburg hemorrhagic fever",["Green monkey disease","MHF","Marburg virus disease"]],[99827,"Crimean-Congo hemorrhagic fever",["CCHF","Congo fever","Congo hemorrhagic fever","Crimean hemorrhagic fever"]],[99828,"Dengue fever",["DF","Dengue virus infection"]],[99829,"Yellow fever",["Bronze John","YF","Yellow Jack"]],[99831,"OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect",["OBSOLETE: CVID due to an intrinsic T cell defect"]],[99832,"Resistance to thyrotropin-releasing hormone syndrome",["Central hypothyroidism due to TRH receptor deficiency","TRH resistance syndrome"]],[99842,"Leukocyte adhesion deficiency type I",["LAD-I"]],[99843,"Leukocyte adhesion deficiency type II",["CDG syndrome type IIc","CDG-IIc","CDG2C","LAD-II","Rambam-Hasharon syndrome","SLC35C1-CDG"]],[99844,"Leukocyte adhesion deficiency type III",["LAD-1 variant","LAD-III","Leukocyte adhesion deficiency-1 variant"]],[99845,"Genetic recurrent myoglobinuria"],[99846,"Autosomal dominant myoglobinuria"],[99849,"Glycogen storage disease due to muscle beta-enolase deficiency",["GSD due to muscle beta-enolase deficiency","GSDXIII","Glycogenosis due to muscle beta-enolase deficiency","Glycogenosis type 13","Muscle enolase deficiency","Muscular enolase deficiency"]],[99852,"Ravine syndrome",["Progressive encephalopathy with severe infantile anorexia","Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome"]],[99853,"Ovarioleukodystrophy"],[99854,"Cree leukoencephalopathy"],[99856,"Primary syringomyelia",["Congenital syringomyelia"]],[99857,"Secondary syringomyelia"],[99858,"Idiopathic syringomyelia"],[99859,"OBSOLETE: Posttraumatic syringomyelia"],[99860,"Precursor B-cell acute lymphoblastic leukemia",["B-ALL","Precursor B-cell acute lymphoblastic leukemia/lymphoma","Precursor B-cell acute lymphocytic leukemia","Precursor B-cell acute lymphocytic leukemia/lymphoma"]],[99861,"Precursor T-cell acute lymphoblastic leukemia",["Precursor T-cell acute lymphoblastic leukemia/lymphoma","Precursor T-cell acute lymphocytic leukemia","Precursor T-cell acute lymphocytic leukemia/lymphoma","T-ALL"]],[99864,"OBSOLETE: Classic seminoma"],[99865,"Spermatocytic seminoma"],[99866,"OBSOLETE: Metastatic spermatocytic seminoma"],[99867,"Thymoma"],[99868,"Thymic carcinoma"],[99869,"Thymic neuroendocrine carcinoma"],[99870,"OBSOLETE: Letterer-Siwe disease",["OBSOLETE: Acute and disseminated Langerhans cell histiocytosis"]],[99871,"OBSOLETE: Eosinophilic granuloma",["OBSOLETE: Chronic and localized Langerhans cell histiocytosis"]],[99872,"OBSOLETE: Hashimoto-Pritzker syndrome",["OBSOLETE: Congenital Langerhans cell histiocytosis"]],[99873,"OBSOLETE: Hand-Schüller-Christian disease",["OBSOLETE: Chronic multifocal Langerhans cell histiocytosis","OBSOLETE: Multifocal eosinophilic granuloma"]],[99874,"OBSOLETE: Adult pulmonary Langerhans cell histiocytosis",["OBSOLETE: Pulmonary histiocytosis X"]],[99875,"OBSOLETE: Ehlers-Danlos syndrome type 7A",["OBSOLETE: EDS VIIA"]],[99876,"OBSOLETE: Ehlers-Danlos syndrome type 7B",["OBSOLETE: EDS VIIB"]],[99877,"OBSOLETE: Familial parathyroid adenoma"],[99878,"OBSOLETE: Primary parathyroid hyperplasia",["OBSOLETE: Familial parathyroid hyperplasia","OBSOLETE: Hereditary parathyroid hyperplasia"]],[99879,"Familial isolated hyperparathyroidism",["FIHPT"]],[99880,"Hyperparathyroidism-jaw tumor syndrome",["HPT-JT"]],[99885,"Isolated permanent neonatal diabetes mellitus",["Isolated PNDM"]],[99886,"Transient neonatal diabetes mellitus",["TNDM"]],[99887,"Acute megakaryoblastic leukemia in children with Down syndrome",["Acute megakaryoblastic leukemia in children with trisomy 21","DS-AMKL in children with Down syndrome","DS-AMKL in children with trisomy 21"]],[99888,"NON RARE IN EUROPE: Adrenocortical adenoma"],[99889,"Cushing syndrome due to ectopic ACTH secretion",["Adrenocorticotropic hormone secretion syndrome","Ectopic ACTH secreting tumor","Ectopic Cushing syndrome","Occult ectopic ACTH secretion","Paraneoplastic Cushing syndrome"]],[99892,"ACTH-dependent Cushing syndrome",["ACTH-dependent CS","Adrenocorticotropic hormone-dependent Cushing syndrome","Corticotropin-dependent Cushing syndrome"]],[99893,"OBSOLETE: ACTH-independent Cushing syndrome",["OBSOLETE: Adrenal Cushing syndrome","OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome","OBSOLETE: Corticotropin-independent Cushing syndrome"]],[99898,"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency",["MSMD due to complete IFNgammaR1 deficiency","MSMD due to complete interferon gamma receptor 1 deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency"]],[99900,"Long chain acyl-CoA dehydrogenase deficiency",["LCAD"]],[99901,"Acyl-CoA dehydrogenase 9 deficiency",["ACAD9 deficiency"]],[99903,"Spirillary rat-bite fever",["Sodoku"]],[99905,"Streptobacillary rat-bite fever"],[99906,"OBSOLETE: Farmer's lung disease"],[99907,"OBSOLETE: House allergic alveolitis"],[99908,"OBSOLETE: Pigeon-breeder lung disease",["OBSOLETE: Bird fancier lung"]],[99909,"OBSOLETE: Occupational allergic alveolitis"],[99912,"Ovarian dysgerminoma",["Dysgerminoma of ovary","Dysgerminomatous germ cell cancer of the ovary"]],[99913,"Extragonadal non-dysgerminomatous germ cell tumor"],[99914,"Gynandroblastoma"],[99915,"Malignant granulosa cell tumor of the ovary",["Granulosa cell cancer","Granulosa cell malignant tumor"]],[99916,"Malignant Sertoli-Leydig cell tumor of the ovary",["Androblastoma","Arrhenoblastoma","Ovarian Sertoli-Leydig cell cancer","Ovarian malignant Sertoli-Leydig cell tumor","Virilizing ovarian tumor"]],[99917,"Theca steroid-producing cell malignant tumor of ovary, not further specified",["Theca (steroid-producing) cell cancer, not further specified"]],[99918,"Streptococcal toxic-shock syndrome",["Streptococcal TSS"]],[99919,"Staphylococcal toxic-shock syndrome",["Staphylococcal TSS"]],[99920,"Acute graft versus host disease"],[99921,"Chronic graft versus host disease"],[99922,"Ocular cicatricial pemphigoid"],[99925,"Invasive mole"],[99926,"Gestational choriocarcinoma"],[99927,"Hydatidiform mole",["Molar pregnancy"]],[99928,"Placental site trophoblastic tumor",["PSST"]],[99930,"Secondary pulmonary hemosiderosis"],[99931,"Idiopathic pulmonary hemosiderosis"],[99932,"Heiner syndrome",["Cow's milk-induced pulmonary hypersensitivity syndrome"]],[99933,"Pleuropulmonary blastoma type 1"],[99934,"Pleuropulmonary blastoma type 2"],[99935,"Pleuropulmonary blastoma type 3"],[99936,"Autosomal dominant Charcot-Marie-Tooth disease type 2B",["CMT2B"]],[99937,"Autosomal dominant Charcot-Marie-Tooth disease type 2C",["CMT2C"]],[99938,"Autosomal dominant Charcot-Marie-Tooth disease type 2D",["CMT2D"]],[99939,"Autosomal dominant Charcot-Marie-Tooth disease type 2E",["CMT2E"]],[99940,"Autosomal dominant Charcot-Marie-Tooth disease type 2F",["CMT2F"]],[99941,"Autosomal dominant Charcot-Marie-Tooth disease type 2G",["CMT2G"]],[99942,"Autosomal dominant Charcot-Marie-Tooth disease type 2I",["CMT2I"]],[99943,"Autosomal dominant Charcot-Marie-Tooth disease type 2J",["CMT2J"]],[99944,"Autosomal dominant Charcot-Marie-Tooth disease type 2K",["CMT2K"]],[99945,"Autosomal dominant Charcot-Marie-Tooth disease type 2L",["CMT2L"]],[99946,"Autosomal dominant Charcot-Marie-Tooth disease type 2A1",["CMT2A1"]],[99947,"Autosomal dominant Charcot-Marie-Tooth disease type 2A2",["CMT2A2"]],[99948,"Charcot-Marie-Tooth disease type 4A",["CMT4A"]],[99949,"Charcot-Marie-Tooth disease type 4C",["CMT4C"]],[99950,"Charcot-Marie-Tooth disease type 4D",["CMT4D","HMSN, Lom type","HMSN-Lom","Hereditary motor and sensory neuropathy, Lom type"]],[99951,"Charcot-Marie-Tooth disease type 4E",["Autosomal recessive congenital hypomyelinating neuropathy","CMT4E"]],[99952,"Charcot-Marie-Tooth disease type 4F",["CMT4F"]],[99953,"Charcot-Marie-Tooth disease type 4G",["CMT4G","HMSNR","Hereditary motor and sensory neuropathy, Russe Type"]],[99954,"Charcot-Marie-Tooth disease type 4H",["CMT4H"]],[99955,"Charcot-Marie-Tooth disease type 4B1",["CMT4B1"]],[99956,"Charcot-Marie-Tooth disease type 4B2",["CMT4B2"]],[99960,"Benign recurrent intrahepatic cholestasis type 1",["BRIC type 1","BRIC1"]],[99961,"Benign recurrent intrahepatic cholestasis type 2",["BRIC type 2","BRIC2"]],[99965,"O'Sullivan-McLeod syndrome"],[99966,"Atypical teratoid rhabdoid tumor",["ATRT"]],[99967,"Myxoid/round cell liposarcoma",["MRCLS"]],[99969,"Pleomorphic liposarcoma",["PLS"]],[99970,"Dedifferentiated liposarcoma",["DDLS"]],[99971,"Well-differentiated liposarcoma",["ALT","Atypical lipoma","Atypical lipomatous tumor","WDLS"]],[99972,"OBSOLETE: Immunoglobulin A1 deficiency",["OBSOLETE: IgA1 deficiency"]],[99973,"OBSOLETE: Immunoglobulin A2 deficiency",["OBSOLETE: IgA2 deficiency"]],[99974,"OBSOLETE: TACI-related selective deficiency of IgA"],[99976,"Adenocarcinoma of the oesophagus and oesophagogastric junction",["Adenocarcinoma of the esophagus and the gastroesophageal junction","Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction"]],[99977,"Squamous cell carcinoma of the esophagus",["ESCC","Esophageal epidermoid carcinoma","Esophageal squamous cell carcinoma"]],[99978,"Perihilar cholangiocarcinoma",["Hilar CCA","Hilar cholangiocarcinoma","Klatskin tumor"]],[99981,"Apnea of prematurity"],[99983,"Cutaneous myiasis"],[99985,"OBSOLETE: Familial restrictive cardiomyopathy type 1"],[99986,"OBSOLETE: Familial restrictive cardiomyopathy type 2"],[99987,"OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome"],[99989,"Intermediate DEND syndrome",["Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form"]],[99990,"Brill-Zinsser disease",["Brill disease","Recrudescent typhus"]],[99991,"Relapsing epidemic typhus"],[99994,"OBSOLETE: Complex regional pain syndrome type 2"],[99995,"OBSOLETE: Complex regional pain syndrome type 1"],[100000,"Reticular perineurioma"],[100001,"Sclerosing perineurioma"],[100002,"Extraneural perineurioma",["Soft tissue perineurioma"]],[100003,"Intraneural perineurioma"],[100006,"ABeta amyloidosis, Dutch type",["ABetaE22Q amyloidosis","HCHWA, Dutch type","HCHWA-D","Hereditary cerebral hemorrhage with amyloidosis, Dutch type"]],[100008,"ACys amyloidosis",["CST3-related amyloidosis","Cystatin amyloidosis","HCHWA, Icelandic type","Hereditary cerebral hemorrhage with amyloidosis, Icelandic type","Hereditary cystatin C amyloid angiopathy"]],[100011,"Lissencephaly with cerebellar hypoplasia type A"],[100012,"Lissencephaly with cerebellar hypoplasia type B"],[100013,"Lissencephaly with cerebellar hypoplasia type C"],[100014,"Lissencephaly with cerebellar hypoplasia type D"],[100015,"Lissencephaly with cerebellar hypoplasia type E"],[100016,"Lissencephaly with cerebellar hypoplasia type F"],[100019,"Myelodysplastic neoplasm with increased blasts type 1",["MDS-IB1","RAEB-1","Refractory anemia with excess blasts type 1"]],[100020,"Myelodysplastic neoplasm with increased blasts type 2",["MDS-IB2","RAEB-2","Refractory anemia with excess blasts type 2"]],[100021,"Primary plasmacytoma of the bone"],[100022,"Extramedullary soft tissue plasmacytoma"],[100024,"Mu-heavy chain disease",["mu-HCD"]],[100025,"Alpha-heavy chain disease",["Immunoproliferative small intestinal disease","Mediterranean lymphoma","Alpha-HCD","IPSID"]],[100026,"Gamma-heavy chain disease",["Franklin disease","Gamma-HCD"]],[100031,"Hypoplastic amelogenesis imperfecta",["Amelogenesis imperfecta type 1"]],[100032,"Hypocalcified amelogenesis imperfecta",["Amelogenesis imperfecta type 3"]],[100033,"Hypomaturation amelogenesis imperfecta",["Amelogenesis imperfecta type 2"]],[100034,"Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism",["Amelogenesis imperfecta type 4"]],[100035,"Solitary necrotic nodule of the liver",["Hepatic solitary necrotic nodule"]],[100039,"Familial pseudohyperkalemia type 1"],[100040,"OBSOLETE: Familial pseudohyperkalemia type 2"],[100041,"OBSOLETE: Familial pseudohyperkalemia, Cardiff type"],[100043,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type A",["CMTDIA"]],[100044,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B",["CMTDIB"]],[100045,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type C",["CMTDIC"]],[100046,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D",["CMTDID"]],[100047,"Isolated esophageal duplication cyst"],[100048,"Isolated tubular duplication of the esophagus"],[100049,"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies",["Primary ILD specific to childhood due to pulmonary surfactant protein anomalies"]],[100050,"Hereditary angioedema type 1",["Hereditary angioneurotic edema type 1","HAE 1","HAE-I"]],[100051,"Hereditary angioedema type 2",["HAE 2","HAE-II","Hereditary angioneurotic edema type 2"]],[100054,"F12-related hereditary angioedema with normal C1Inh",["F12-related HAE with normal C1 inhibitor","HAE 3","HAE-III","Hereditary angioedema type 3","Hereditary angioneurotic edema type 3","Inherited estrogen-associated angioedema","Inherited estrogen-associated angioneurotic edema","Inherited estrogen-dependent angioedema","Inherited estrogen-dependent angioneurotic edema"]],[100055,"Acquired angioedema type 2",["AAE 2","AAE II","Acquired angioneurotic edema type 2"]],[100056,"Acquired angioedema type 1",["Acquired angioneurotic edema type 1"]],[100057,"Renin-angiotensin-aldosterone system-blocker-induced angioedema",["ACE inhibitor-related acquired angioedema","ACEI-related acquired angioedema","Acquired angioedema with normal C1 inhibitor","Acquired angioedema with normal C1INH","RAAS-blocker-induced angioedema","RAAS-blocker-induced angioneurotic edema","RAE","Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema"]],[100067,"Waterhouse-Friderichsen syndrome"],[100069,"Semantic dementia",["Semantic primary progressive aphasia","Semantic variant PPA"]],[100070,"Progressive non-fluent aphasia",["Agramatic variant of PPA","Agramatic variant of primary progressive aphasia","Non-fluent variant PPA"]],[100071,"Mosaic trisomy 3 syndrome",["Mosaic trisomy chromosome 3","Trisomy 3 mosaicism"]],[100072,"OBSOLETE: True vascular thoracic outlet syndrome"],[100073,"Neurogenic thoracic outlet syndrome",["NTOS","Neurogenic TOS","Neurogenic cervical rib syndrome","Neurogenic costoclavicular syndrome","Neurogenic thoracic outlet compression syndrome"]],[100075,"Neuroendocrine tumor of stomach",["GNET","Gastric NET","Gastric neuroendocrine tumor","NET of stomach"]],[100076,"Duodenal neuroendocrine tumor"],[100077,"Jejunal neuroendocrine tumor",["Jejunal neuroendocrine neoplasm"]],[100078,"Ileal neuroendocrine tumor",["Ileal neuroendocrine neoplasm"]],[100079,"Neuroendocrine neoplasm of appendix",["Appendiceal NEN","Appendiceal neuroendocrine neoplasm","NEN of appendix"]],[100080,"Neuroendocrine tumor of the colon",["Colonic NET","NET of the colon","Neuroendocrine neoplasm of the colon"]],[100081,"Neuroendocrine tumor of the rectum",["NET of the rectum","Rectal NET","Rectal neuroendocrine tumor"]],[100082,"Neuroendocrine tumor of anal canal",["NET of anal canal"]],[100083,"Laryngeal neuroendocrine tumor"],[100084,"Middle ear neuroendocrine tumor"],[100085,"Primary hepatic neuroendocrine carcinoma"],[100086,"Gallbladder neuroendocrine tumor"],[100087,"Rare thyroid tumor"],[100088,"Rare thyroid carcinoma"],[100090,"Rare parathyroid tumor"],[100091,"Adrenal/paraganglial tumor"],[100092,"Gastroenteropancreatic neuroendocrine neoplasm",["GEP-NEN"]],[100093,"Carcinoid syndrome",["Malignant carcinoid syndrome"]],[100094,"Multiple polyglandular tumor"],[100100,"Thymic tumor"],[100101,"Neuroendocrine tumor with other location"],[100642,"NON RARE IN EUROPE: Gonorrhea"],[100924,"Porphyria due to ALA dehydratase deficiency",["ALAD porphyria","Porphyria due to ALAD deficiency","Porphyria due to delta-aminolevulinate dehydratase deficiency","Porphyria of Doss"]],[100932,"OBSOLETE: Nuclear oculomotor paralysis"],[100973,"FRAXE intellectual disability",["Intellectual disability associated with fragile site FRAXE"]],[100974,"FRAXF syndrome"],[100976,"Bathing suit ichthyosis",["BSI"]],[100978,"Cloverleaf skull-asphyxiating thoracic dysplasia syndrome",["Benallegue-Lacete syndrome"]],[100979,"Autosomal dominant complex spastic paraplegia",["Autosomal dominant complex HSP","Autosomal dominant complex SPG","Autosomal dominant complicated HSP","Autosomal dominant complicated SPG","Autosomal dominant complicated spastic paraplegia"]],[100980,"Autosomal dominant pure spastic paraplegia",["Autosomal dominant pure HSP","Autosomal dominant pure SPG","Autosomal dominant uncomplicated HSP","Autosomal dominant uncomplicated SPG","Autosomal dominant uncomplicated spastic paraplegia"]],[100981,"Autosomal recessive complex spastic paraplegia",["Autosomal recessive complex HSP","Autosomal recessive complex SPG","Autosomal recessive complicated HSP","Autosomal recessive complicated SPG","Autosomal recessive complicated spastic paraplegia"]],[100982,"Autosomal recessive pure spastic paraplegia",["Autosomal recessive pure HSP","Autosomal recessive pure SPG","Autosomal recessive uncomplicated HSP","Autosomal recessive uncomplicated SPG","Autosomal recessive uncomplicated spastic paraplegia"]],[100984,"Autosomal dominant spastic paraplegia type 3",["Autosomal dominant spastic paraplegia type 3A","SPG3A","Strümpell disease"]],[100985,"Autosomal dominant spastic paraplegia type 4",["SPG4"]],[100986,"Autosomal recessive spastic paraplegia type 5A",["SPG5A"]],[100988,"Autosomal dominant spastic paraplegia type 6",["SPG6"]],[100989,"Autosomal dominant spastic paraplegia type 8",["SPG8"]],[100990,"OBSOLETE: Autosomal dominant spastic paraplegia type 9",["OBSOLETE: SPG9"]],[100991,"Autosomal dominant spastic paraplegia type 10",["SPG10"]],[100993,"Autosomal dominant spastic paraplegia type 12",["SPG12"]],[100994,"Autosomal dominant spastic paraplegia type 13",["SPG13"]],[100995,"Autosomal recessive spastic paraplegia type 14",["SPG14"]],[100996,"Kjellin syndrome",["Autosomal recessive spastic paraplegia type 15","Hereditary spastic paraparesis type 15","SPG15","Spastic paraplegia-retinal degeneration syndrome"]],[100997,"X-linked spastic paraplegia type 16",["SPG16"]],[100998,"Autosomal dominant spastic paraplegia type 17",["SPG17","Silver syndrome","Spastic paraplegia-amyotrophy of hands and feet"]],[100999,"Autosomal dominant spastic paraplegia type 19",["SPG19"]],[101000,"Autosomal recessive spastic paraplegia type 20",["Childhood-onset spastic paraparesis-distal muscle wasting syndrome","SPG20","Troyer syndrome"]],[101001,"Autosomal recessive spastic paraplegia type 21",["Mast syndrome","SPG21"]],[101003,"Autosomal recessive spastic paraplegia type 23",["Lison syndrome","SPG23"]],[101004,"Autosomal recessive spastic paraplegia type 24",["SPG24"]],[101005,"Autosomal recessive spastic paraplegia type 25",["Autosomal recessive spastic paraplegia-disc herniation syndrome","SPG25"]],[101006,"Autosomal recessive spastic paraplegia type 26",["GM2 synthase deficiency","SPG26"]],[101007,"Autosomal recessive spastic paraplegia type 27",["SPG27"]],[101008,"Autosomal recessive spastic paraplegia type 28",["SPG28"]],[101009,"Autosomal dominant spastic paraplegia type 29",["SPG29"]],[101010,"Autosomal spastic paraplegia type 30",["SPG30"]],[101011,"Autosomal dominant spastic paraplegia type 31",["SPG31"]],[101016,"Isolated congenital long QT syndrome",["Romano-Ward long QT syndrome","Isolated congenital LQTS"]],[101022,"Mediterranean macrothrombocytopenia"],[101023,"Cleft hard palate"],[101028,"Transaldolase deficiency",["TALDO deficiency"]],[101029,"Sub-cortical nodular heterotopia"],[101030,"Subependymal nodular heterotopia"],[101033,"OBSOLETE: Peters anomaly-cataract syndrome"],[101036,"OBSOLETE: Zlotogura-Martinez syndrome"],[101039,"Female restricted epilepsy with intellectual disability",["EFMR","Juberg-Hellman syndrome"]],[101041,"Familial hypofibrinogenemia"],[101042,"OBSOLETE: Taussig-Bing syndrome"],[101043,"Congenital aortic valve dysplasia"],[101046,"Epilepsy with auditory features",["ADEAF","ADLTE","ADPEAF","Autosomal dominant epilepsy with auditory features","Autosomal dominant lateral temporal lobe epilepsy","EAF","Partial epilepsy with auditory aura","Partial epilepsy with auditory features"]],[101049,"Familial hypocalciuric hypercalcemia type 2",["FHH type 2"]],[101050,"Familial hypocalciuric hypercalcemia type 3",["FHH type 3"]],[101052,"OBSOLETE: Microlissencephaly type B"],[101063,"Situs inversus totalis",["Complete situs inversus","Complete situs inversus viscerum","Situs inversus"]],[101068,"Congenital stromal corneal dystrophy",["CSCD","Congenital hereditary stromal dystrophy","Witschel dystrophy"]],[101070,"Bilateral frontoparietal polymicrogyria"],[101071,"Unilateral hemispheric polymicrogyria"],[101075,"X-linked Charcot-Marie-Tooth disease type 1",["CMT1X","CMTX1"]],[101076,"X-linked Charcot-Marie-Tooth disease type 2",["CMTX2"]],[101077,"X-linked Charcot-Marie-Tooth disease type 3",["CMT3X","CMTX3"]],[101078,"X-linked Charcot-Marie-Tooth disease type 4",["CMT4X","CMTX4","Cowchock syndrome"]],[101081,"Charcot-Marie-Tooth disease type 1A",["CMT1A","Microduplication 17p12"]],[101082,"Charcot-Marie-Tooth disease type 1B",["CMT1B"]],[101083,"Charcot-Marie-Tooth disease type 1C",["CMT1C"]],[101084,"Charcot-Marie-Tooth disease type 1D",["CMT1D"]],[101085,"Charcot-Marie-Tooth disease type 1F",["CMT1F"]],[101088,"X-linked hyper-IgM syndrome",["HIGM1","Hyper-IgM syndrome due to CD40 ligand deficiency","Hyper-IgM syndrome due to CD40L deficiency","Hyper-IgM syndrome type 1","XHIGM"]],[101089,"Hyper-IgM syndrome type 2",["AID deficiency","Activation-induced cytidine deaminase deficiency","HIGM2"]],[101090,"Hyper-IgM syndrome type 3",["HIGM3","Hyper-IgM syndrome due to CD40 deficiency"]],[101091,"Hyper-IgM syndrome type 4",["HIGM4"]],[101092,"Hyper-IgM syndrome type 5",["HIGM5","Hyper-IgM syndrome due to UNG deficiency","Hyper-IgM syndrome due to uracil N-glycosylase"]],[101096,"OBSOLETE: Aregenerative anemia"],[101097,"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness",["ARCMT2K","Autosomal recessive axonal CMT4C4","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K"]],[101101,"Charcot-Marie-Tooth disease type 2B2",["AR-CMT2B2","Autosomal recessive axonal CMT4C3","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2"]],[101102,"Charcot-Marie-Tooth disease type 2H",["AR-CMT2C","Autosomal recessive axonal CMT4C2","Axonal Charcot-Marie-Tooth disease with pyramidal involvement","CMT2H"]],[101104,"Marin-Amat syndrome"],[101106,"OBSOLETE: Non-secreting chemodectoma"],[101107,"Spinocerebellar ataxia type 22",["SCA22"]],[101108,"Spinocerebellar ataxia type 23",["SCA23"]],[101109,"Spinocerebellar ataxia type 28",["SCA28"]],[101110,"Spinocerebellar ataxia type 20",["SCA20"]],[101111,"Spinocerebellar ataxia type 25",["SCA25"]],[101112,"Spinocerebellar ataxia type 26",["SCA26"]],[101150,"Autosomal recessive dopa-responsive dystonia",["Autosomal recessive Segawa syndrome","DYT5b","Tyrosine hydroxylase deficiency","Tyrosine hydroxylase-deficient dopa-responsive dystonia"]],[101151,"Dystonia 14",["DYT14"]],[101206,"Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome",["APV/ADA, Fallot type","Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome","PVA/ADA, Fallot type"]],[101330,"Porphyria cutanea tarda",["PCT"]],[101334,"African tick typhus"],[101335,"OBSOLETE: Indian tick typhus"],[101336,"OBSOLETE: Kenya tick typhus",["OBSOLETE: Kenya tick-bite fever"]],[101337,"OBSOLETE: Marseilles fever"],[101338,"OBSOLETE: Mediterranean spotted fever"],[101351,"Familial isolated congenital asplenia"],[101356,"OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome"],[101433,"Rare urogenital disease"],[101435,"Rare genetic eye disease",["Rare genetic ophthalmologic disease"]],[101685,"Rare non-syndromic intellectual disability",["Rare NSID"]],[101932,"Anomaly of the mitral subvalvular apparatus"],[101934,"Genetic cardiac rhythm disease"],[101936,"Rare gastroesophageal disease"],[101937,"Rare pancreatic disease"],[101938,"Rare vascular liver disease"],[101939,"Rare parenchymal liver disease"],[101940,"Rare metabolic liver disease"],[101941,"Rare biliary tract disease"],[101943,"Rare hepatic and biliary tract tumor"],[101944,"Rare pulmonary disease"],[101945,"Rare bronchopulmonary and pleural cavity tumors"],[101949,"OBSOLETE: Rare acquired eye disease"],[101950,"Rare eye tumor"],[101952,"Rare diabetes mellitus"],[101953,"Rare dyslipidemia"],[101954,"Rare adrenal disease"],[101955,"Rare thyroid disease"],[101956,"Polyendocrinopathy"],[101957,"Pituitary deficiency"],[101958,"Primary adrenal insufficiency"],[101959,"Chronic primary adrenal insufficiency",["CPAI","Chronic adrenocorticoid insufficiency"]],[101960,"Genetic chronic primary adrenal insufficiency"],[101963,"Acquired chronic primary adrenal insufficiency"],[101972,"Combined T and B cell immunodeficiency"],[101977,"Immunodeficiency due to predominantly antibodies defect",["PAD","Predominantly antibodies deficiency"]],[101978,"OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells"],[101980,"OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells"],[101982,"OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells"],[101985,"Quantitative and/or qualitative congenital phagocyte defect"],[101987,"Congenital neutropenia",["Constitutional neutropenia"]],[101988,"Primary immunodeficiency due to a defect in innate immunity"],[101992,"Immunodeficiency due to a complement cascade protein anomaly"],[101995,"Periodic fever syndrome"],[101997,"Primary immunodeficiency"],[101998,"Rare epilepsy"],[102000,"Medullar disease"],[102002,"Rare ataxia"],[102003,"Rare movement disorder"],[102005,"Brain inflammatory disease"],[102006,"Neurovascular malformation"],[102009,"Classic lissencephaly",["Lissencephaly type 1"]],[102010,"Other syndrome with lissencephaly as a major feature"],[102011,"Lissencephaly type 3"],[102012,"Pure hereditary spastic paraplegia",["Pure HSP","Pure SPG","Pure familial spastic paraplegia","Uncomplicated HSP","Uncomplicated SPG","Uncomplicated familial spastic paraplegia","Uncomplicated hereditary spastic paraplegia"]],[102013,"Complex hereditary spastic paraplegia",["Complex HSP","Complex SPG","Complex familial spastic paraplegia","Complicated HSP","Complicated SPG","Complicated familial spastic paraplegia","Complicated hereditary spastic paraplegia"]],[102014,"Autosomal dominant limb-girdle muscular dystrophy"],[102015,"Autosomal recessive limb-girdle muscular dystrophy"],[102020,"Autosomal monosomy syndrome",["Autosomal deletion"]],[102021,"Rickettsial disease",["Rickettsiae disease"]],[102022,"Spotted fever rickettsiosis",["Spotted fever rickettsiae disease"]],[102023,"Typhus-group rickettsiosis",["Typhus-group rickettsiae disease"]],[102024,"Human herpesvirus 8-related disorder",["HHV-8-related disorder"]],[102025,"OBSOLETE: Nuclear cell envelopathy"],[102069,"OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis",["OBSOLETE: Cholestatic hepatic amyloidosis"]],[102237,"Unexplained periodic fever syndrome"],[102283,"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability",["MCA/MR","Multiple congenital anomalies-intellectual disability with or without dysmorphism"]],[102284,"OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",["OBSOLETE: MCA/variable MR","OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"]],[102285,"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability",["MCA without intellectual disability","Multiple congenital anomalies without intellectual disability with or without dysmorphism"]],[102369,"Rare syndromic intellectual disability"],[102373,"OBSOLETE: Primary glomerular disease"],[102379,"Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent",["AML and myelodysplastic syndromes related to alkylating agent"]],[102381,"Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor",["AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"]],[102724,"Acute myeloid leukemia with t(8;21)(q22;q22) translocation",["AML with t(8;21)(q22;q22) translocation"]],[103907,"Chronic diarrhea due to glucoamylase deficiency",["Maltase-glucoamylase deficiency"]],[103908,"Congenital sodium diarrhea",["CSD","NHE3 deficiency","Na-H exchanger 3 deficiency","Non-syndromic congenital sodium diarrhea","Sodium/proton exchanger-3 deficiency"]],[103909,"Trehalase deficiency",["Isolated trehalose intolerance"]],[103910,"Congenital enterocyte heparan sulfate deficiency"],[103912,"OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome"],[103915,"OBSOLETE: Immunoproliferative small intestinal disease",["OBSOLETE: IPSID","OBSOLETE: Mediterranean lymphoma"]],[103916,"OBSOLETE: Autoimmune enteropathy type 2"],[103917,"OBSOLETE: Autoimmune enteropathy type 3"],[103918,"Tropical pancreatitis",["TCP","Tropical calcific chronic pancreatitis"]],[103919,"Autoimmune pancreatitis",["AIP"]],[103920,"OBSOLETE: Undetermined colitis"],[104003,"Congenital intestinal transport defect"],[104004,"Intestinal disease due to vitamin absorption anomaly"],[104005,"Intestinal disease due to fat malabsorption"],[104006,"Congenital intestinal disease due to an enzymatic defect"],[104007,"Congenital enteropathy involving intestinal mucosa development"],[104008,"Short bowel syndrome"],[104009,"Rare disease involving intestinal motility"],[104010,"Intestinal polyposis syndrome"],[104011,"Rare tumor of intestine",["Rare intestinal tumor","Rare tumor of bowel"]],[104012,"Rare monogenic inflammatory bowel disease",["Rare monogenic IBD"]],[104013,"Metabolic disease with intestinal involvement"],[104075,"Adenocarcinoma of the small intestine",["Adenocarcinoma of the small bowel"]],[104076,"Leiomyosarcoma of small intestine"],[104077,"Myopathic intestinal pseudoobstruction"],[104078,"Unclassified intestinal pseudoobstruction"],[108959,"Non-syndromic esophageal malformation"],[108961,"Syndromic esophageal malformation"],[108963,"Non-syndromic gastroduodenal malformation"],[108965,"Syndromic gastroduodenal malformation"],[108967,"Non-syndromic intestinal malformation"],[108969,"Syndromic intestinal malformation"],[108971,"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen"],[108973,"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen"],[108977,"Non-syndromic diaphragmatic or abdominal wall malformation"],[108979,"Syndromic diaphragmatic or abdominal wall malformation"],[108985,"OBSOLETE: Non-syndromic developmental defect of the eye"],[108987,"OBSOLETE: Syndromic developmental defect of the eye"],[108989,"OBSOLETE: Non-syndromic central nervous system malformation"],[108991,"OBSOLETE: Syndrome with a central nervous system malformation as a major feature"],[108993,"Non-syndromic respiratory or mediastinal malformation"],[108995,"Syndromic respiratory or mediastinal malformation"],[108997,"Rare anemia"],[108999,"Rare disorder due to toxic effects"],[109007,"Arthrogryposis syndrome"],[109009,"Syndrome with limb malformations as a major feature"],[109011,"Non-syndromic limb malformation"],[117569,"Rare intestinal disease"],[117573,"Syndromic anorectal malformation"],[137577,"Neonatal hypoxic and ischemic brain injury",["HIE","Hypoxic and ischemic brain injury in the newborn","Hypoxic-ischemic encephalopathy","Perinatal hypoxia"]],[137583,"Vulvar intraepithelial neoplasia",["VIN","Vulvar intraepithelial tumor"]],[137586,"OBSOLETE: Herpes simplex virus keratitis",["OBSOLETE: HSV keratitis","OBSOLETE: Herpetic keratitis"]],[137593,"Infectious epithelial keratitis"],[137596,"Neurotrophic keratopathy",["Neurotrophic keratitis"]],[137599,"Herpes simplex virus stromal keratitis"],[137602,"Corneal endotheliitis"],[137605,"Legius syndrome",["NF1-like syndrome","Neurofibromatosis 1-like syndrome","Nonmosaic LGSS","Nonmosaic Legius syndrome"]],[137608,"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome",["SOLAMEN syndrome"]],[137617,"Nephrogenic systemic fibrosis",["Nephrogenic fibrosing dermopathy"]],[137622,"Intractable diarrhea-choanal atresia-eye anomalies syndrome"],[137625,"Glycogen storage disease due to muscle and heart glycogen synthase deficiency",["GSD due to muscle and heart glycogen synthase deficiency","GSD type 0b","Glycogen storage disease type 0b","Glycogenosis due to muscle and heart glycogen synthase deficiency","Glycogenosis type 0b"]],[137628,"Cardiac anomalies-heterotaxy syndrome"],[137631,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"],[137634,"Overgrowth-macrocephaly-facial dysmorphism syndrome"],[137639,"Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome",["Ataxia-delayed dentition-hypomyelination syndrome"]],[137653,"Microcephaly-digital anomalies-intellectual disability syndrome",["Kelly-Kirson-Wyatt syndrome"]],[137658,"Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome",["Woods-Crouchman-Huson syndrome"]],[137667,"Capillary malformation-arteriovenous malformation",["CM-AVM"]],[137672,"Pellucid marginal degeneration"],[137675,"Histiocytoid cardiomyopathy",["Foamy myocardial transformation of infancy","Infantile cardiomyopathy with histiocytoid change","Infantile xanthomatous cardiomyopathy","Oncocytic cardiomyopathy"]],[137678,"Spondyloepiphyseal dysplasia with metatarsal shortening",["Czech dysplasia, metatarsal type","SED with metatarsal shortening"]],[137681,"Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",["Hepatoencephalopathy due to COXPD1"]],[137686,"Asherman syndrome"],[137698,"Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk",["CMV disease in patients with impaired cell mediated immunity deemed at risk"]],[137754,"Aminoacylase 1 deficiency",["ACY1D","N-acyl-L-amino acid amidohydrolase deficiency","N-acyl-aliphatic-L-amino acid amidohydrolase deficiency"]],[137776,"Lethal congenital contracture syndrome type 2",["LCCS2","Multiple contracture syndrome, Israeli-Bedouin type"]],[137783,"Lethal congenital contracture syndrome type 3",["LCCS3"]],[137807,"Primary cutaneous amyloidosis",["PLCA","Primary localized cutaneous amyloidosis"]],[137810,"Nodular cutaneous amyloidosis",["PLCNA","Primary localized cutaneous nodular amyloidosis"]],[137814,"Macular amyloidosis"],[137817,"Arachnoiditis",["Adhesive arachnoiditis","Chronic arachnoiditis"]],[137820,"NON RARE IN EUROPE: Extrapelvic endometriosis",["NON RARE IN EUROPE: Endometriosis outside pelvis"]],[137831,"X-linked intellectual disability-cerebellar hypoplasia syndrome",["OPHN1 syndrome","Oligophrenin-1 syndrome"]],[137834,"Frank-Ter Haar syndrome",["Ter Haar syndrome"]],[137839,"Lemierre syndrome",["Lemierre postanginal sepsis","Postanginal sepsis secondary to orophyngeal infection","Septic phlebitis of the internal jugular vein"]],[137862,"Martínez-Frías syndrome",["Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome"]],[137867,"Madras motor neuron disease",["MMND"]],[137871,"OBSOLETE: Laminopathy type Decaudain-Vigouroux",["OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy"]],[137888,"Auriculocondylar syndrome",["Question mark ear syndrome"]],[137893,"Male infertility due to large-headed multiflagellar polyploid spermatozoa",["Macrocephalic sperm head syndrome","Male infertility due to macrozoospermia"]],[137898,"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome",["LBSL","Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome"]],[137902,"OBSOLETE: Isolated optic nerve hypoplasia/aplasia"],[137905,"Syndromic optic nerve hypoplasia"],[137908,"Hypotonia with lactic acidemia and hyperammonemia",["COXPD5","Combined oxidative phosphorylation defect type 5"]],[137911,"Autism-facial port-wine stain syndrome"],[137914,"Choanal atresia"],[137917,"Choanal atresia, unilateral"],[137920,"Choanal atresia, bilateral"],[137923,"OBSOLETE: Cervicofacial lymphatic malformation"],[137926,"Primary laryngeal lymphangioma"],[137929,"Neonatal brainstem dysfunction"],[137932,"Congenital laryngeal palsy",["Congenital vocal cord paralysis"]],[137935,"Airway infantile hemangioma",["Airway infantile haemangioma","Laryngotracheal angioma"]],[138041,"Pierre Robin syndrome associated with collagen disease",["Pierre Robin sequence associated with collagen disease"]],[138044,"Rare disease with Pierre Robin syndrome"],[138047,"Pierre Robin syndrome associated with a chromosomal anomaly",["Pierre Robin sequence associated with a chromosomal anomaly"]],[138050,"Pierre Robin syndrome associated with branchial archs anomalies",["Pierre Robin sequence associated with branchial archs anomalies"]],[138055,"Pierre Robin syndrome associated with bone disease",["Pierre Robin sequence associated with bone disease"]],[138059,"Teratogenic Pierre Robin syndrome",["Teratogenic Pierre Robin sequence"]],[138063,"OBSOLETE: Syndrome associated with Pierre Robin syndrome",["OBSOLETE: Syndrome associated with Pierre Robin sequence"]],[138066,"OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies",["OBSOLETE: Pierre Robin sequence associated with miscellaneous anomalies"]],[138069,"OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome",["OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence"]],[138072,"OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome"],[138076,"OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly"],[138080,"OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome"],[138084,"OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation"],[138095,"OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies"],[138101,"OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies"],[138104,"OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies"],[138109,"OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies"],[138112,"OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies"],[138115,"OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease"],[138118,"OBSOLETE: Acquired alimentary behavior disorder of infancy"],[138221,"OBSOLETE: Rare sucking/swallowing disorder"],[139006,"OBSOLETE: Sequence or association"],[139009,"Developmental anomaly of metabolic origin"],[139012,"Rare bone development disorder",["Rare skeletal development disorder"]],[139015,"OBSOLETE: Chondrodysplastic malformation syndrome"],[139018,"OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones"],[139021,"Malformation syndrome with short stature"],[139024,"Overgrowth/obesity syndrome"],[139027,"Rare developmental defect with skin/mucosae involvement"],[139030,"Rare developmental defect with connective tissue involvement"],[139033,"Progeroid syndrome"],[139036,"Branchial arch or oral-acral syndrome"],[139039,"Orofacial clefting syndrome"],[139042,"Malformation syndrome with odontal and/or periodontal component"],[139373,"OBSOLETE: Recessive hereditary methemoglobinemia type 1",["OBSOLETE: NADH-cytochrome b5reductase deficiency type 1","OBSOLETE: NADH-diaphorase deficiency type 1","OBSOLETE: Recessive congenital methemoglobinemia type 1"]],[139380,"OBSOLETE: Recessive hereditary methemoglobinemia type 2",["OBSOLETE: NADH-cytochrome b5reductase deficiency type 2","OBSOLETE: NADH-diaphorase deficiency type 2","OBSOLETE: Recessive congenital methemoglobinemia type 2"]],[139390,"Non-syndromic craniosynostosis",["Isolated craniosynostosis"]],[139393,"Syndromic craniosynostosis"],[139396,"X-linked cerebral adrenoleukodystrophy",["X-CALD"]],[139399,"Adrenomyeloneuropathy"],[139402,"Drug reaction with eosinophilia and systemic symptoms",["DRESS syndrome","Drug rash with eosinophilia and systemic symptoms"]],[139406,"Encephalopathy due to prosaposin deficiency",["Combined prosaposin deficiency"]],[139411,"Carney triad"],[139414,"Congenital panfollicular nevus"],[139417,"Acute transverse myelitis"],[139420,"OBSOLETE: Secondary acute transverse myelitis",["OBSOLETE: Disease-associated transverse myelitis"]],[139423,"Idiopathic acute transverse myelitis"],[139426,"Perioral myoclonia with absences",["POMA"]],[139431,"Epilepsy with eyelid myoclonia",["EMA","EMEA","Eyelid myoclonia with and without absences","Jeavons syndrome"]],[139436,"Multicentric reticulohistiocytosis",["Giant cell histiocytomatosis","Lipoid dermatoarthritis"]],[139441,"Hypomyelination with atrophy of basal ganglia and cerebellum",["H-ABC"]],[139444,"Leukoencephalopathy with bilateral anterior temporal lobe cysts"],[139447,"Progressive cavitating leukoencephalopathy"],[139450,"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome",["Balikova-Vermeesch syndrome"]],[139455,"Autosomal recessive bestrophinopathy",["Retinopathy, Burgess-Black type"]],[139466,"SERKAL syndrome",["Sex reversion-kidneys, adrenal and lung dysgenesis syndrome"]],[139471,"Microphthalmia with brain and digit anomalies",["Bakrania-Ragge syndrome","MCOPS6","Syndromic microphthalmia type 6"]],[139474,"17q11.2 microduplication syndrome",["Dup(17)(q11.2)","Grisart-Destrée syndrome","Trisomy 17q11.2"]],[139477,"Al-Gazali-Dattani syndrome"],[139480,"Autosomal recessive spastic paraplegia type 39",["SPG39","Spastic paraplegia due to NTE mutation","Spastic paraplegia due to neuropathy target esterase mutation"]],[139485,"Autosomal recessive ataxia due to ubiquinone deficiency",["ARCA2","Autosomal recessive ataxia due to coenzyme Q10 deficiency","Autosomal recessive cerebellar ataxia type 2","Autosomal recessive spinocerebellar ataxia type 9","SCAR9"]],[139491,"OBSOLETE: Hemochromatosis type 4",["OBSOLETE: Autosomal dominant hereditary hemochromatosis","OBSOLETE: Ferroportin disease","OBSOLETE: Hemochromatosis due to defect in ferroportin"]],[139498,"NON RARE IN EUROPE: Hemochromatosis type 1",["NON RARE IN EUROPE: C282Y/C282Y hemochromatosis","NON RARE IN EUROPE: Classic hemochromatosis","NON RARE IN EUROPE: HFE-related hemochromatosis"]],[139507,"Dietary iron overload disease",["African iron overload","Bantu siderosis"]],[139512,"Neuropathy with hearing impairment"],[139515,"Charcot-Marie-Tooth disease type 4J",["CMT4J"]],[139518,"Distal hereditary motor neuropathy type 1",["Autosomal dominant distal juvenile spinal muscular atrophy type 1","dHMN1"]],[139525,"Distal hereditary motor neuropathy type 2",["Distal spinal muscular atrophy type 2","dHMN2","dSMA2"]],[139536,"Distal hereditary motor neuropathy type 5",["Distal HMN V","Distal hereditary motor neuropathy type V","Distal spinal muscular atrophy type 5","dHMN5"]],[139547,"Distal spinal muscular atrophy type 3",["Autosomal recessive distal spinal muscular atrophy type 3","Distal hereditary motor neuropathy type 3 and type 4","dHMN3 and dHMN4","dSMA3"]],[139552,"Distal hereditary motor neuropathy, Jerash type",["Autosomal recessive distal spinal muscular atrophy type 2","dHMNJ"]],[139557,"X-linked distal spinal muscular atrophy type 3",["ATP7A-related distal motor neuropathy","DSMAX","SMAX3","X-linked dHMN3","X-linked dSMA3","X-linked distal hereditary motor neuropathy type 3"]],[139564,"Hereditary sensory and autonomic neuropathy type 1B",["HSAN with cough and gastroesophageal reflux","HSAN1B","Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux","Hereditary sensory and autonomic neuropathy type IB"]],[139573,"Hereditary sensory and autonomic neuropathy with deafness and global delay",["HSAN with deafness and global delay","HSAN with hearing loss and global delay","Hereditary sensory and autonomic neuropathy with hearing loss and global delay"]],[139578,"Mutilating hereditary sensory neuropathy with spastic paraplegia",["Mutilating HSAN with spastic paraplegia"]],[139583,"X-linked hereditary sensory and autonomic neuropathy with deafness",["X-linked HSAN with deafness","X-linked HSAN with hearing loss","X-linked auditory neuropathy with peripheral sensory neuropathy type 1","X-linked hereditary sensory and autonomic neuropathy with hearing loss"]],[139589,"Distal hereditary motor neuropathy type 7",["Distal spinal muscular atrophy with vocal cord paralysis","dHMN7"]],[140162,"Inherited cancer-predisposing syndrome"],[140286,"Secondary hypoparathyroidism due to impaired parathormon secretion"],[140428,"OBSOLETE: Hereditary iron overload with neurologic manifestation"],[140432,"OBSOLETE: Hereditary iron overload with anemia"],[140436,"Familial intraosseous vascular malformation",["Hereditary intraosseous vascular malformation","VMOS"]],[140450,"OBSOLETE: Hereditary motor and sensory neuropathy",["OBSOLETE: HMSN"]],[140453,"Autosomal dominant hereditary demyelinating motor and sensory neuropathy"],[140456,"Autosomal dominant hereditary axonal motor and sensory neuropathy"],[140459,"Autosomal recessive hereditary demyelinating motor and sensory neuropathy"],[140462,"OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy"],[140465,"Autosomal dominant distal hereditary motor neuropathy",["Autosomal dominant dHMN","Autosomal dominant distal spinal muscular atrophy"]],[140468,"Autosomal recessive distal hereditary motor neuropathy",["Autosomal recessive dHMN","Autosomal recessive dSMA","Autosomal recessive distal spinal muscular atrophy"]],[140471,"Hereditary sensory and autonomic neuropathy",["HSAN"]],[140474,"Autosomal dominant hereditary sensory and autonomic neuropathy"],[140477,"Autosomal recessive hereditary sensory and autonomic neuropathy"],[140481,"Autosomal dominant slowed nerve conduction velocity"],[140500,"OBSOLETE: Neurological channelopathy"],[140503,"OBSOLETE: Channelopathy"],[140653,"Neuro-ophthalmological disease"],[140874,"Joubert syndrome",["JS"]],[140896,"Severe acute respiratory syndrome",["SARS","SARS-1"]],[140905,"Hyperlipidemia due to hepatic triacylglycerol lipase deficiency",["Hyperlipidemia due to HL deficiency","Hyperlipidemia due to HTGL deficiency","Hyperlipidemia due to hepatic lipase deficiency","Hyperlipidemia due to hepatic triglyceride lipase deficiency"]],[140908,"Brachydactyly type B2"],[140917,"Stapes ankylosis with broad thumbs and toes",["Teunissen-Cremers syndrome"]],[140922,"Titin-related limb-girdle muscular dystrophy R10",["Autosomal recessive limb-girdle muscular dystrophy type 2J","LGMD type 2J","LGMD2J","Limb-girdle muscular dystrophy type 2J","Titin-related LGMD R10"]],[140927,"Self-limited neonatal/infantile epilepsy",["BFNIS","Benign familial neonatal-infantile seizures","Benign neonatal-infantile epilepsy","SeLFNIE"]],[140933,"Linear atrophoderma of Moulin"],[140936,"Lelis syndrome",["Ectodermal dysplasia-acanthosis nigricans syndrome"]],[140941,"Short stature due to primary acid-labile subunit deficiency"],[140944,"CLOVES syndrome",["Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome","Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"]],[140949,"Low-flow priapism"],[140952,"Syndactyly-telecanthus-anogenital and renal malformations syndrome",["STAR syndrome"]],[140957,"Autosomal dominant macrothrombocytopenia"],[140963,"Bilateral microtia-deafness-cleft palate syndrome",["Bilateral microtia-hearing loss-cleft palate syndrome"]],[140966,"Palmoplantar keratoderma, Nagashima type",["PPK, Nagashima type","Palmoplantar hyperkeratosis, Nagashima type"]],[140969,"Saldino-Mainzer syndrome",["Conorenal syndrome","Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome"]],[140976,"RHYNS syndrome",["Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"]],[140989,"Primary angiitis of the central nervous system",["Isolated angiitis of the central nervous system","PACNS","PCNSV","Primary central nervous system vasculitis","Primary vasculitis of the central nervous system"]],[140997,"Orofaciodigital syndrome",["OFD","Oral-facial-digital syndrome"]],[141000,"Orofaciodigital syndrome type 11",["OFD11","Oral-facial-digital syndrome type 11","Oral-facial-digital syndrome, Gabrielli type","Orofaciodigital syndrome, Gabrielli type"]],[141007,"Orofaciodigital syndrome type 9",["OFD9","Oral-facial-digital syndrome type 9","Oral-facial-digital syndrome with retinal abnormalities","Orofaciodigital syndrome with retinal abnormalities"]],[141013,"First branchial cleft anomaly",["First branchial cleft cyst","First branchial cleft fistula"]],[141022,"Second branchial cleft anomaly",["Second branchial cleft cyst","Second branchial cleft fistula"]],[141030,"Third branchial cleft anomaly",["Third branchial cleft cyst","Third branchial cleft fistula"]],[141037,"Fourth branchial cleft anomaly",["Fourth branchial cleft cyst","Fourth branchial cleft fistula"]],[141046,"Cervical dermoid cyst",["Dermoid cyst of the neck"]],[141051,"Facial dermoid cyst",["Dermoid cyst of the face"]],[141061,"Commissural lip fistula"],[141064,"Isolated lower lip fistula",["Isolated lower lip pits","Non-syndromic familial congenital lower lip pits"]],[141067,"Cervicofacial fibrochondroma"],[141071,"Isolated digestive duplication cyst of the tongue",["Enteric duplication cyst of the tongue","Foregut duplication cyst of the tongue","Gastric duplication cyst of the tongue"]],[141074,"External auditory canal aplasia/hypoplasia",["External auditory canal stenosis/atresia"]],[141077,"Epignathus",["Oropharyngeal teratoma"]],[141083,"Nasolacrimal duct cyst",["Dacryocele","Dacryocystocele","Nasolacrimal mucocele"]],[141091,"Polyrrhinia",["Double nose","Polyrhinia"]],[141096,"Supernumerary nostril",["Accessory nostril"]],[141099,"Proboscis lateralis",["Congenital tubular nose"]],[141103,"Nasal dermoid cyst",["Nasal dermoid sinus cyst"]],[141107,"Nasopharyngeal teratoma",["Teratoma of the nasopharynx"]],[141112,"Nasal glial heterotopia",["Nasal glioma"]],[141115,"Nasal ganglioglioma"],[141118,"Nasal encephalocele"],[141121,"Congenital subglottic stenosis"],[141124,"Congenital laryngeal cyst"],[141127,"Congenital tracheal stenosis"],[141132,"Craniofacial microsomia",["OAVS","OAV spectrum","Oculoauriculovertebral spectrum","Oculo-auriculo-vertebral spectrum"]],[141136,"Otomandibular syndrome",["First branchial arch syndrome","Hemifacial microsomia","Laterofacial microsomia","Otomandibular dysostosis"]],[141145,"Hemifacial hyperplasia",["Hemifacial hypertrophy"]],[141148,"Hemifacial myohyperplasia"],[141152,"Isolated congenital hypoglossia/aglossia"],[141163,"Glossopalatine ankylosis",["Cosack syndrome"]],[141168,"OBSOLETE: Frontonasal arteriovenous malformation"],[141171,"OBSOLETE: Maxillary arteriovenous malformation",["OBSOLETE: Arteriovenous malformation of maxilla"]],[141174,"OBSOLETE: Mandibular arteriovenous malformation",["OBSOLETE: Arteriovenous malformation of mandible"]],[141179,"Non-involuting congenital hemangioma",["NICH","Non-involuting congenital haemangioma"]],[141184,"Rapidly involuting congenital hemangioma",["RICH","Rapidly involuting congenital haemangioma"]],[141189,"Cerebrofacial arteriovenous metameric syndrome",["CAMS"]],[141194,"OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1",["OBSOLETE: CAMS1"]],[141199,"OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3",["OBSOLETE: CAMS3"]],[141209,"Generalized lymphatic anomaly",["Diffuse lymphangioma","Diffuse lymphangiomatosis","Disseminated lymphangioma","Disseminated lymphangiomatosis","Disseminated lymphatic malformation","GLA","Diffuse lymphatic malformation"]],[141214,"Isolated congenital syngnathia",["Isolated congenital maxillomandibular fusion"]],[141219,"Nasal dorsum fistula"],[141229,"Facial cleft",["Craniofacial cleft"]],[141234,"Median facial cleft",["Midline facial cleft","Tessier number 0-14 and 30 facial cleft"]],[141239,"Median cleft of the upper lip and maxilla"],[141242,"Paramedian nasal cleft",["Alar cleft","Alar rim cleft","Cleft nose","Isolated cleft of the ala nasi","Isolated coloboma of the nose","Tessier number 1 cleft"]],[141253,"Oblique facial cleft",["Orbitofacial cleft"]],[141258,"Tessier number 4 facial cleft"],[141261,"Tessier number 5 facial cleft"],[141265,"Tessier number 6 facial cleft"],[141269,"Lateral facial cleft"],[141276,"Tessier number 7 facial cleft",["Commissural facial cleft","Transverse facial cleft"]],[141288,"Midline cervical cleft"],[141291,"Cleft lip and alveolus"],[141327,"OBSOLETE: Orofaciodigital syndrome type 12",["OBSOLETE: Moran-Barroso syndrome","OBSOLETE: OFD12","OBSOLETE: Oral-facial-digital syndrome type 12"]],[141330,"OBSOLETE: Orofaciodigital syndrome type 13",["OBSOLETE: Degner syndrome","OBSOLETE: OFD13","OBSOLETE: Oral-facial-digital syndrome type 13"]],[141333,"Biemond syndrome type 2",["Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome"]],[155832,"Rare head and neck malformation"],[155835,"Cysts and fistulae of the face and oral cavity"],[155838,"Pinnae fistula or cyst"],[155867,"Paramedian facial cleft",["Tessier number 1-1 and 2-12 facial cleft"]],[155878,"Submucosal cleft palate"],[155884,"Coloboma of superior eyelid",["Superior palpebral coloboma"]],[155889,"Coloboma of inferior eyelid",["Inferior palpebral coloboma"]],[155896,"Otomandibular dysplasia"],[155899,"Mandibulofacial dysostosis",["Bilateral and symmetric oto-mandibular dysplasia"]],[156005,"Primary early-onset glaucoma"],[156071,"OBSOLETE: Keratoconus"],[156140,"Predominantly large-vessel vasculitis"],[156143,"Predominantly medium-vessel vasculitis"],[156146,"Predominantly small-vessel vasculitis"],[156149,"Immune complex mediated vasculitis"],[156152,"Anti-neutrophil cytoplasmic antibody-associated vasculitis",["AAV","ANCA-associated vasculitis","Antineutrophil cytoplasmic antibody-associated vasculitis"]],[156156,"Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy"],[156159,"Isolated dystonia",["Pure dystonia"]],[156162,"Renal ciliopathy"],[156165,"Retinal ciliopathy"],[156168,"Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene",["Retinal ciliopathy due to mutation in RP1 gene"]],[156171,"Retinal ciliopathy due to mutation in the RPGR gene"],[156174,"Retinal ciliopathy due to mutation in the RPGRIP gene"],[156177,"Retinal ciliopathy due to mutation in Usher gene"],[156180,"Retinal ciliopathy due to mutation in nephronophthisis gene"],[156183,"Retinal ciliopathy due to mutation in Bardet-Biedl gene"],[156202,"Otomandibular dysplasia associated with monogenic syndromes"],[156207,"Macroglossia"],[156212,"Hypoglossia/aglossia"],[156215,"Oromandibular-limb anomalies syndrome"],[156224,"Paralytic facial malformation"],[156230,"OBSOLETE: Facial arteriovenous malformation"],[156237,"Syndrome or malformation associated with head and neck malformations"],[156243,"Pinnae and external auditory canal anomaly"],[156246,"Nose and cavum anomaly"],[156249,"Larynx anomaly"],[156252,"Tracheal anomaly"],[156532,"Rare syndrome with cardiac malformations"],[156601,"Rare genetic hepatic disease"],[156604,"Genetic parenchymatous liver disease"],[156607,"Genetic biliary tract disease"],[156610,"Rare genetic respiratory disease"],[156619,"Rare genetic urogenital disease"],[156622,"Genetic urogenital tract malformation"],[156629,"Rare genetic cause of hypertension"],[156638,"Rare genetic endocrine disease"],[156643,"Genetic endocrine growth disease"],[156723,"Piepkorn dysplasia",["Short ribs-craniosynostosis-polysyndactyly syndrome"]],[156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",["SEMD, MATN3-related","SEMD, matrilin-3 type"]],[156731,"Dyssegmental dysplasia, Rolland-Desbuquois type"],[157215,"Hereditary hypophosphatemic rickets with hypercalciuria",["HHRH"]],[157713,"Congenital or early infantile CACH syndrome"],[157716,"Late infantile CACH syndrome"],[157719,"Juvenile or adult CACH syndrome"],[157769,"OBSOLETE: Situs ambiguus",["OBSOLETE: Incomplete situs inversus","OBSOLETE: Partial situs inversus","OBSOLETE: Situs ambiguous"]],[157788,"Hypospadias-hypertelorism-coloboma and deafness syndrome",["Hypospadias-hypertelorism-coloboma and hearing loss syndrome"]],[157791,"Epithelioid hemangioendothelioma",["EHE"]],[157794,"Hereditary mixed polyposis syndrome",["HMPS"]],[157798,"Serrated polyposis syndrome",["Hyperplastic polyposis syndrome"]],[157801,"Mesoaxial synostotic syndactyly with phalangeal reduction",["MSSD","Syndactyly type 9","Syndactyly, Malik-Percin type"]],[157808,"Isolated pseudoarthrosis of the limbs",["Congenital pseudoarthrosis of the limbs","Isolated congenital pseudarthrosis of the limbs"]],[157820,"Cold-induced sweating syndrome",["CISS"]],[157823,"Klüver-Bucy syndrome"],[157826,"Congenital epulis",["Congenital gingival cell tumor","Congenital granular cell tumor","Neumann tumor"]],[157832,"Craniorhiny"],[157835,"Paroxysmal hemicrania"],[157843,"Trigeminal autonomic cephalalgia"],[157846,"Neuroferritinopathy",["Adult basal ganglia disease","Ferritin-related neurodegeneration","Hereditary ferritinopathy"]],[157850,"Pantothenate kinase-associated neurodegeneration",["Hallervorden-Spatz syndrome","NBIA1","Neurodegeneration with brain iron accumulation type 1","PKAN"]],[157855,"HARP syndrome",["Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome"]],[157941,"Huntington disease-like 1",["Early-onset prion disease with prominent psychiatric features","HDL1"]],[157946,"Huntington disease-like 3",["HDL3"]],[157949,"Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect",["CID with granulomas and/or autoimmunity due to RAG defect","Combined immunodeficiency with granulomas and/or autoimmunity due to recombination activating gene defect"]],[157954,"ANE syndrome",["Alopecia-progressive neurological defect-endocrinopathy syndrome"]],[157962,"Oculoauricular syndrome, Schorderet type"],[157965,"SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome",["SCD-EDS","SLC39A13-related spEDS","SLC39A13-related spondylodysplastic EDS","Spondylocheirodysplastic Ehlers-Danlos syndrome","spEDS-SLC39A13"]],[157973,"Congenital muscular dystrophy due to LMNA mutation",["L-CMD","LMNA-related congenital muscular dystrophy"]],[157980,"NON RARE IN EUROPE: Bladder cancer"],[157987,"Non-Langerhans cell histiocytosis"],[157991,"Generalized eruptive histiocytosis",["Generalized eruptive histiocytoma"]],[157997,"Benign cephalic histiocytosis"],[158000,"Juvenile xanthogranuloma",["JXG"]],[158003,"Xanthoma disseminatum",["Montgomery syndrome"]],[158008,"Papular xanthoma"],[158011,"Necrobiotic xanthogranuloma"],[158014,"Rosaï-Dorfman disease",["Sinus histiocytosis with massive lymphadenopathy","Destombes-Rosaï-Dorfman disease","Rosaï-Dorfman-Destombes disease","SHML"]],[158019,"Indeterminate cell histiocytosis",["Indeterminate dendritic cell neoplasm","Indeterminate dendritic cell tumor"]],[158022,"Progressive nodular histiocytosis"],[158025,"Hereditary progressive mucinous histiocytosis"],[158029,"OBSOLETE: Sea-blue histiocytosis"],[158032,"Hemophagocytic syndrome",["HLH","Hemophagocytic lymphohistiocytosis"]],[158038,"Primary hemophagocytic lymphohistiocytosis",["Genetic HLH","Genetic hemophagocytic lymphohistiocytosis","Primary HLH"]],[158041,"Secondary hemophagocytic lymphohistiocytosis",["Acquired hemophagocytic lymphohistiocytosis","Reactive hemophagocytic syndrome"]],[158048,"Hemophagocytic syndrome associated with an infection",["IAHS","VAHS","Virus-associated hemophagocytic syndrome"]],[158057,"Acquired hemophagocytic lymphohistiocytosis associated with malignant disease"],[158061,"Macrophage activation syndrome"],[158124,"Genetic dementia"],[158266,"Huntington disease-like syndrome",["Huntington disease phenocopy syndrome"]],[158300,"Rare genetic hematologic disease"],[158661,"OBSOLETE: Suprabasal epidermolysis bullosa simplex"],[158665,"OBSOLETE: Basal epidermolysis bullosa simplex"],[158668,"Ectodermal dysplasia-skin fragility syndrome",["McGrath syndrome"]],[158673,"Localized dystrophic epidermolysis bullosa, acral form",["Localized DEB, acral form"]],[158676,"Localized dystrophic epidermolysis bullosa, nails only",["Localized DEB, nails only"]],[158681,"Epidermolysis bullosa simplex with circinate migratory erythema",["EBS with circinate migratory erythema","EBS-migr"]],[158684,"Epidermolysis bullosa simplex with pyloric atresia",["EBS with pyloric atresia","EBS-PA"]],[158687,"Lethal acantholytic erosive disorder"],[158766,"Typical urticaria pigmentosa"],[158769,"Plaque-form urticaria pigmentosa"],[158772,"Nodular urticaria pigmentosa"],[158775,"Smoldering systemic mastocytosis"],[158778,"Isolated bone marrow mastocytosis"],[158793,"OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia"],[158796,"OBSOLETE: Classic mast cell leukemia"],[158799,"OBSOLETE: Aleukemic mast cell leukemia"],[160148,"Cap polyposis",["Cap inflammatory polyposis","Eroded polypoid hyperplasia","Inflammatory myoglandular polyps","Polypoid prolapsing folds"]],[162516,"Isolated congenital nasal pyriform aperture stenosis",["Isolated apertura pyriformis stenosis","Isolated nasal pyriform aperture hypoplasia"]],[162521,"OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly",["OBSOLETE: Apertura pyriformis with holoprosencephaly"]],[162526,"Isolated congenital auditory ossicle malformation",["Congenital auditory ossicle malformation without external ear abnormality"]],[163209,"Non-syndromic cerebral malformation due to abnormal neuronal migration",["Brain malformation due to abnormal neuronal migration"]],[163525,"Subacute cutaneous lupus erythematosus"],[163528,"OBSOLETE: Acute cutaneous lupus erythematosus"],[163531,"Chronic cutaneous lupus erythematosus"],[163582,"Rare bacterial infectious disease"],[163585,"Rare viral disease"],[163588,"Rare parasitic disease"],[163591,"Rare mycosis"],[163596,"Hemoglobin Bart's fetalis syndrome",["HBHF","Haemoglobin Bart's disease","Haemoglobin Bart's hydrops fetalis","Hb Bart's hydrops fetalis syndrome","Hemoglobin Bart's disease","Hemoglobin Bart's hydrops fetalis","Homozygous alpha0-thalassemia","Alpha-thalassemia hydrops fetalis","Alpha-thalassemia major","BHFS"]],[163631,"Bile acid synthesis defect with cholestasis and malabsorption"],[163634,"Maffucci syndrome",["Enchondromatosis Spranger type II","Multiple Enchondromatosis type II","Multiple Enchondromatosis, Maffucci Type"]],[163637,"Rare disorder related with pregnancy, childbirth and puerperium"],[163649,"Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome",["Spondyloepiphyseal dysplasia, Nishimura type"]],[163654,"Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome",["SED-BDS","Spondyloepiphyseal dysplasia, Cantu type","Tattoo dysplasia"]],[163662,"Spondyloepiphyseal dysplasia, Reardon type"],[163665,"Spondyloepiphyseal dysplasia tarda, Kohn type"],[163668,"Spondyloepiphyseal dysplasia, MacDermot type",["Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome","Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome"]],[163673,"Spondyloepiphyseal dysplasia, Byers type",["Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome"]],[163678,"OBSOLETE: Unclassified spondylometaphyseal dysplasia"],[163681,"CNTNAP2-related developmental and epileptic encephalopathy",["CDFE syndrome","CDFES","CNTNAP2-related DEE","Cortical dysplasia-focal epilepsy syndrome"]],[163684,"Leukoencephalopathy-dystonia-motor neuropathy syndrome"],[163690,"Hypotonia-cystinuria syndrome",["HCS"]],[163693,"2p21 microdeletion syndrome",["2p21 deletion syndrome","Del(2)(p21)","Monosomy 2p21"]],[163696,"Action myoclonus-renal failure syndrome",["AMRF","EPM4","Myoclonus-nephropathy syndrome","Progressive myoclonic epilepsy type 4","Progressive myoclonus epilepsy type 4"]],[163699,"Alveolar soft tissue sarcoma",["ASPS","Alveolar soft part sarcoma"]],[163703,"Febrile infection-related epilepsy syndrome",["DESC syndrome","Devastating epileptic encephalopathy in school-aged children","FIRES","Fever-induced refractory epileptic encephalopathy in school-aged children","AERRPS","Acute encephalitis with refractory repetitive partial seizures","Acute non-herpetic encephalitis with severe refractory status epilepticus"]],[163708,"Cryptogenic late-onset epileptic spasms",["Late-onset infantile spasms"]],[163717,"Familial mesial temporal lobe epilepsy",["FLTLE"]],[163721,"Rolandic epilepsy-speech dyspraxia syndrome"],[163727,"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome",["Rolandic epilepsy exercise-induced dystonia"]],[163746,"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease",["Neurologic Waardenburg-Shah syndrome","PCWH","WS4 plus"]],[163892,"OBSOLETE: Limbic encephalitis"],[163895,"OBSOLETE: Paraneoplastic limbic encephalitis"],[163898,"OBSOLETE: Classic paraneoplastic limbic encephalitis",["OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens"]],[163903,"OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens"],[163908,"OBSOLETE: Limbic encephalitis with LGI1 antibodies",["OBSOLETE: Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies"]],[163914,"OBSOLETE: Limbic encephalitis with nCMAgs antibodies",["OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies"]],[163918,"OBSOLETE: Non-paraneoplastic limbic encephalitis"],[163921,"Posttransplant acute limbic encephalitis",["PALE"]],[163924,"OBSOLETE: Non-herpetic acute limbic encephalitis"],[163927,"Pustulosis palmaris et plantaris",["Palmoplantar pustulosis","LPP","Localized pustular psoriasis","PPP"]],[163931,"Acrodermatitis continua of Hallopeau"],[163934,"Atopic keratoconjunctivitis"],[163937,"X-linked intellectual disability, Najm type",["MICPCH","X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome"]],[163953,"X-linked intellectual disability, Raymond type"],[163956,"X-linked intellectual disability, Nascimento type",["X-linked intellectual disability-nail dystrophy-seizures syndrome"]],[163961,"X-linked cerebral-cerebellar-coloboma syndrome",["X-linked intellectual disability, Kroes type"]],[163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",["X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome"]],[163971,"X-linked intellectual disability, Cilliers type",["X-linked intellectual disability-microcephaly-testicular failure syndrome"]],[163976,"X-linked intellectual disability, Van Esch type"],[163979,"X-linked intellectual disability-craniofacioskeletal syndrome"],[163982,"X-linked intellectual disability-spastic quadriparesis syndrome"],[163985,"Hyperekplexia-epilepsy syndrome"],[163988,"OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type"],[164001,"Rare odontal or periodontal disorder"],[164004,"Middle and/or inner ear anomaly"],[164726,"Acute myeloid leukemia and myelodysplastic syndromes related to radiation",["AML and myelodysplastic syndromes related to radiation"]],[164736,"Familial advanced sleep-phase syndrome",["FASPS"]],[164823,"Rare acquired aplastic anemia"],[165652,"Rare genetic gastroenterological disease"],[165655,"Genetic intestinal disease"],[165658,"Genetic gastro-esophageal disease"],[165661,"Genetic pancreatic disease"],[165704,"Non-syndromic urogenital tract malformation"],[165707,"Syndromic urogenital tract malformation"],[165711,"Rare abdominal surgical disease"],[165805,"Familial mesial temporal lobe epilepsy with febrile seizures"],[165955,"Wound myiasis",["Traumatic myiasis"]],[165958,"Cavitary myiasis"],[165961,"OBSOLETE: Subcutaneous myiasis"],[165985,"Diazoxide-sensitive diffuse hyperinsulinism",["Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form"]],[165988,"Diazoxide-resistant diffuse hyperinsulinism",["Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form"]],[165991,"Exercise-induced hyperinsulinism",["EIHI","Exercise-induced hyperinsulinemic hypoglycemia","Hyperinsulinism due to SLC16A1 deficiency","Hyperinsulinism due to monocarboxylate transporter 1 deficiency"]],[165994,"Pituitary resistance to thyroid hormone",["PRTH","Selective pituitary resistance to thyroid hormone"]],[166002,"Multiple epiphyseal dysplasia due to collagen 9 anomaly"],[166011,"Multiple epiphyseal dysplasia, Beighton type",["Multiple epiphyseal dysplasia-myopia-deafness syndrome","Multiple epiphyseal dysplasia-myopia-hearing loss syndrome"]],[166016,"Multiple epiphyseal dysplasia, Lowry type",["Multiple epiphyseal dysplasia with Robin phenotype"]],[166024,"Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome",["Multiple epiphyseal dysplasia, Al-Gazali type"]],[166029,"Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome"],[166032,"Multiple epiphyseal dysplasia-miniepiphyses syndrome"],[166035,"Brachydactyly-short stature-retinitis pigmentosa syndrome"],[166038,"Metaphyseal chondrodysplasia, Kaitila type"],[166063,"Pontocerebellar hypoplasia type 4",["Fatal infantile encephalopathy with olivopontocerebellar hypoplasia","Olivopontocerebellar hypoplasia","PCH4"]],[166068,"Pontocerebellar hypoplasia type 5",["PCH5","Fetal-onset olivopontocerebellar hypoplasia"]],[166073,"Pontocerebellar hypoplasia type 6",["Fatal infantile encephalopathy with mitochondrial respiratory chain defects","PCH6"]],[166078,"Von Willebrand disease type 1"],[166081,"Von Willebrand disease type 2"],[166084,"Von Willebrand disease type 2A"],[166087,"Von Willebrand disease type 2B"],[166090,"Von Willebrand disease type 2M"],[166093,"Von Willebrand disease type 2N"],[166096,"Von Willebrand disease type 3"],[166100,"Autosomal dominant otospondylomegaepiphyseal dysplasia",["AD OSMED","Stickler syndrome type 3","Stickler syndrome, non-ocular type"]],[166105,"FASTKD2-related infantile mitochondrial encephalomyopathy"],[166108,"Birk-Barel syndrome",["Birk-Barel Intellectual Disability-Dimorphism syndrome","Intellectual disability-hypotonia-facial dysmorphism syndrome","KCNK9 imprinting syndrome"]],[166113,"Bazex syndrome",["Acrokeratosis of Bazex","Acrokeratosis paraneoplastica","Acrokeratosis paraneoplastica of Bazex"]],[166119,"Isolated osteopoikilosis"],[166260,"Dentinogenesis imperfecta type 2",["Capdepont teeth","DGI-2","DI-2","Dentinogenesis imperfecta, Shields type 2"]],[166265,"Dentinogenesis imperfecta type 3",["Dentinogenesis imperfecta, Shields type 3"]],[166272,"Odontochondrodysplasia",["Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome","Goldblatt chondrodysplasia","Goldblatt syndrome","ODCD"]],[166277,"Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia",["Suarez-Stickler syndrome"]],[166282,"Hereditary sick sinus syndrome"],[166286,"Porokeratotic eccrine ostial and dermal duct nevus",["Comedo nevus of the palm","Porokeratotic eccrine nevus"]],[166291,"Dirofilariasis"],[166295,"Benign non-familial infantile seizures"],[166299,"Benign partial epilepsy of infancy with complex partial seizures"],[166302,"Benign partial epilepsy with secondarily generalized seizures in infancy"],[166305,"OBSOLETE: Benign infantile seizures associated with mild gastroenteritis"],[166308,"Benign infantile focal epilepsy with midline spikes and waves during sleep",["BIMSE"]],[166311,"Benign partial infantile seizures"],[166409,"Photosensitive occipital lobe epilepsy",["POLE"]],[166412,"Hot water reflex epilepsy",["HWE"]],[166415,"Audiogenic epilepsy"],[166418,"Eating reflex epilepsy",["Eating epilepsy","Eating seizures"]],[166421,"Orgasm-induced epilepsy"],[166424,"Thinking epilepsy"],[166427,"Startle epilepsy"],[166430,"Micturition-induced epilepsy"],[166433,"Epilepsy with reading-induced seizures",["EwRIS"]],[166457,"OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis"],[166463,"Epilepsy syndrome"],[166466,"Neurocutaneous syndrome with epilepsy"],[166469,"Chromosomal anomaly with epilepsy as a major feature"],[166472,"Monogenic disease with epilepsy"],[166475,"Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes"],[166478,"Cerebral malformation with epilepsy"],[166481,"Metabolic diseases with epilepsy"],[166484,"Inflammatory and autoimmune disease with epilepsy"],[166487,"Cerebral diseases of vascular origin with epilepsy"],[166490,"Infectious disease with epilepsy"],[166775,"Rare hemorrhagic disorder due to an acquired coagulation factor defect",["Rare bleeding disorder due to an acquired coagulation factor defect","Rare coagulopathy due to an acquired coagulation factor defect"]],[167635,"Scleromyxedema",["Arndt-Gottron disease","Generalized lichenoid papular eruption","Generalized papular and sclerodermoid lichen myxedematosus"]],[167714,"Unclassified acute myeloid leukemia",["Unclassified AML"]],[167759,"Hereditary dentin defect"],[167762,"Rare disease with dentinogenesis imperfecta"],[167848,"Rare cardiomyopathy"],[168194,"Rare cardiac tumor"],[168443,"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"],[168448,"Spondyloepimetaphyseal dysplasia, Bieganski type"],[168451,"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome",["SEMDAD"]],[168454,"NANS-CDG",["SEMD, Geneviève type","SEMDG","N-acetylneuraminic acid-9-phosphate synthase deficiency","Spondyloepimetaphyseal dysplasia Camera-Genevieve type","Spondyloepimetaphyseal dysplasia, Geneviève type"]],[168486,"OBSOLETE: Congenital neuronal ceroid lipofuscinosis",["OBSOLETE: Congenital NCL"]],[168491,"OBSOLETE: Late infantile neuronal ceroid lipofuscinosis",["OBSOLETE: Jansky-Bielschowsky disease","OBSOLETE: LINCL","OBSOLETE: Late infantile NCL"]],[168544,"Spondylometaphyseal dysplasia, Golden type",["X-linked spondylometaphyseal dysplasia"]],[168549,"Axial spondylometaphyseal dysplasia"],[168552,"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"],[168555,"Spondylometaphyseal dysplasia, A4 type"],[168558,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency",["46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency","XY sex reversal-adrenal failure"]],[168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"],[168566,"Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3",["Fatal mitochondrial disease due to COXPD3"]],[168569,"H syndrome"],[168572,"Native American myopathy",["STAC3-related congenital myopathy","Bailey-Bloch congenital myopathy","Congenital myopathy-cleft palate-malignant hyperthermia syndrome"]],[168577,"Hereditary cryohydrocytosis with reduced stomatin",["CHC type 2","Hereditary cryohydrocytosis type 2","Stomatin-deficient cryohydrocytosis","sdCHC"]],[168583,"Hereditary North American Indian childhood cirrhosis"],[168588,"Hyperandrogenism due to cortisone reductase deficiency",["11-beta-hydroxysteroid dehydrogenase deficiency type 1"]],[168593,"Sudden infant death-dysgenesis of the testes syndrome",["SIDDT"]],[168598,"Methionine adenosyltransferase I/III deficiency",["MAT I/III deficiency","Mudd's disease"]],[168601,"Congenital enteropathy due to enteropeptidase deficiency",["Congenital enterokinase deficiency"]],[168606,"Seborrhea-like dermatitis with psoriasiform elements"],[168609,"Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure",["Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure","Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure","Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure","Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure","Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure","Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure","Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure"]],[168612,"Congenital deficiency in alpha-fetoprotein"],[168615,"Hereditary persistence of alpha-fetoprotein"],[168621,"Dysplasia of head of femur, Meyer type",["DECF","Dysplasia epiphysealis capitis femoris","Meyer dysplasia"]],[168624,"Familial scaphocephaly syndrome, McGillivray type",["Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome"]],[168629,"Autosomal isolated thrombocytopenia with normal platelets size"],[168632,"Generalized basaloid follicular hamartoma syndrome"],[168778,"Rare pervasive developmental disorder",["Rare ASD","Rare PDD","Rare autism spectrum disorder"]],[168782,"Childhood disintegrative disorder",["Dementia infantilis","Heller syndrome"]],[168796,"Heart-hand syndrome, Slovenian type",["Atriodigital dysplasia, Slovenian type","Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome"]],[168803,"Primary peritoneal tumor"],[168807,"Primary malignant peritoneal tumor"],[168811,"Malignant peritoneal mesothelioma",["Diffuse malignant peritoneal mesothelioma","Primary malignant peritoneal mesothelioma"]],[168816,"Peritoneal inclusion cyst",["Benign multicystic peritoneal mesothelioma","Multicystic mesothelioma","Multilocular peritoneal inclusion cyst","Peritoneal cyctic mesothelioma"]],[168829,"Primary peritoneal carcinoma",["EOPPC","Extra-ovarian primary peritoneal carcinoma","PPC","Primary peritoneal serous carcinoma","Serous surface papillary carcinoma"]],[168940,"Chronic eosinophilic leukemia"],[168943,"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2"],[168947,"Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement"],[168950,"Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement"],[168953,"Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement",["8p11 myeloproliferative syndrome","Stem cell leukemia/lymphoma"]],[168956,"Hypereosinophilic syndrome",["HES"]],[168960,"Refractory anemia with excess blasts in transformation",["RAEB-t"]],[168966,"Composite lymphoma",["Composite Hodgkin and non-Hodgkin lymphoma"]],[168972,"Kahrizi syndrome",["Intellectual disability, Kahrizi type","Intellectual disability-cataract-coloboma-kyphosis syndrome"]],[168984,"CLAPO syndrome"],[168999,"Malignant melanoma of the mucosa"],[169079,"Cernunnos-XLF deficiency",["Cernunnos XLFD","Cernunnos deficiency","Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome","NHEJ1 deficiency"]],[169082,"Combined immunodeficiency due to CD3gamma deficiency"],[169085,"Susceptibility to respiratory infections associated with CD8alpha chain mutation",["Familial CD8 deficiency"]],[169090,"Combined immunodeficiency due to CRAC channel dysfunction",["Immune dysfunction due to T-cell inactivation due to calcium entry defect"]],[169095,"T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency",["T-B+NK+ SCID due to FOXN1 deficiency","Alymphoid cystic thymic dysgenesis","Nude/SCID","Nude/severe combined immunodeficiency","Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome","Winged helix deficiency"]],[169100,"Immunodeficiency due to CD25 deficiency",["Interleukin-2 receptor alpha chain deficiency"]],[169105,"Thymoma-hypogammaglobulinemia syndrome",["Good syndrome"]],[169110,"Immunoglobulin heavy chain deficiency"],[169139,"Transient hypogammaglobulinemia of infancy"],[169142,"Recurrent infections due to specific granule deficiency",["Neutrophil-specific granule deficiency"]],[169147,"Immunodeficiency due to a classical component pathway complement deficiency",["Immunodeficiency due to C1, C4, or C2 component complement deficiency","Immunodeficiency due to an early component of complement deficiency"]],[169150,"Immunodeficiency due to a late component of complement deficiency",["Immunodeficiency due to C5 to C9 component complement deficiency","Terminal complement pathway deficiency"]],[169154,"T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency",["T-B+NK+ SCID due to IL-7Ralpha deficiency"]],[169157,"T-B+NK+ severe combined immunodeficiency due to CD45 deficiency",["T-B+NK+ SCID due to CD45 deficiency"]],[169160,"T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency",["T-B+NK+ SCID due to CD3delta/CD3epsilon/CD3zeta deficiency"]],[169163,"Familial scaphocephaly syndrome"],[169186,"Autosomal recessive centronuclear myopathy",["AR-CNM"]],[169189,"Autosomal dominant centronuclear myopathy",["AD-CNM"]],[169346,"DNA repair defect other than combined T-cell and B-cell immunodeficiencies"],[169349,"Immuno-osseous dysplasia"],[169355,"Immunodeficiency syndrome with autoimmunity"],[169361,"Immune dysregulation disease with immunodeficiency"],[169443,"Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells"],[169446,"OBSOLETE: Autosomal recessive hyper-IgE syndrome",["OBSOLETE: AR-HIES","OBSOLETE: Autosomal recessive HIES","OBSOLETE: Hyperimmunoglobulin E syndrome type 2","OBSOLETE: Non-skeletal hyper-IgE syndrome"]],[169464,"Primary CD59 deficiency"],[169467,"Recurrent Neisseria infections due to factor D deficiency"],[169615,"NON RARE IN EUROPE: Idiopathic central precocious puberty"],[169618,"NON RARE IN EUROPE: Secondary central precocious puberty"],[169793,"Severe hemophilia B",["Severe congenital F9 deficiency","Severe congenital factor IX deficiency"]],[169796,"Moderate hemophilia B",["Moderate congenital F9 deficiency","Moderate congenital factor IX deficiency"]],[169799,"Mild hemophilia B",["Mild congenital F9 deficiency","Mild congenital factor IX deficiency"]],[169802,"Severe hemophilia A",["Severe congenital F8 deficiency","Severe congenital factor VIII deficiency"]],[169805,"Moderate hemophilia A",["Moderate congenital F8 deficiency","Moderate congenital factor VIII deficiency"]],[169808,"Mild hemophilia A",["Mild congenital F8 deficiency","Mild congenital factor VIII deficiency"]],[169826,"Congenital vitamin K-dependent coagulation factors deficiency"],[171201,"OBSOLETE: High isolated anorectal malformation"],[171208,"OBSOLETE: Intermediate isolated anorectal malformation"],[171215,"OBSOLETE: Low isolated anorectal malformation"],[171220,"Isolated rectal duplication"],[171430,"Severe congenital nemaline myopathy"],[171433,"Intermediate nemaline myopathy"],[171436,"Typical nemaline myopathy"],[171439,"Childhood-onset nemaline myopathy",["Mild nemaline myopathy"]],[171442,"Adult-onset nemaline myopathy"],[171445,"Muscle filaminopathy",["FLNC-associated myofibrillar myopathy","Filamin C-related filaminopathy","MFM5"]],[171607,"X-linked spastic paraplegia type 34",["SPG34"]],[171612,"Autosomal dominant spastic paraplegia type 37",["SPG37"]],[171617,"Autosomal dominant spastic paraplegia type 38",["SPG38"]],[171622,"Autosomal recessive spastic paraplegia type 32",["SPG32"]],[171629,"Autosomal recessive spastic paraplegia type 35",["SPG35"]],[171673,"Limbal stem cell deficiency"],[171676,"NON RARE IN EUROPE: Periventricular leukomalacia"],[171680,"Lissencephaly due to TUBA1A mutation"],[171684,"Idiopathic bilateral vestibulopathy"],[171690,"Metabolic myopathy due to lactate transporter defect",["Erythrocyte lactate transporter defect"]],[171695,"Parkinsonian-pyramidal syndrome",["Pallidopyramidal syndrome"]],[171700,"Diffuse panbronchiolitis"],[171703,"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"],[171706,"Short stature-delayed bone age due to thyroid hormone metabolism deficiency"],[171709,"Male infertility due to globozoospermia",["Male infertility due to round-headed spermatozoa","Round-headed sperm syndrome"]],[171714,"Amish infantile epilepsy syndrome",["Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome"]],[171719,"Cutis laxa-Marfanoid syndrome"],[171723,"White sponge nevus",["Hereditary mucosal leukokeratosis","White sponge nevus of Cannon"]],[171829,"6q16 microdeletion syndrome",["Del(6)(q16)","Monosomy 6q16","Prader-Willi-like syndrome due to microdeletion 6q16"]],[171836,"Amelogenesis imperfecta-gingival hyperplasia syndrome"],[171839,"Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome",["Berant syndrome","Capra-DeMarco syndrome","Familial scaphocephaly-radioulnar synostosis syndrome"]],[171844,"Blindness-scoliosis-arachnodactyly syndrome"],[171848,"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome",["PHARC syndrome","Peripheral neuropathy, Fiskerstrand type","Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome"]],[171851,"MEDNIK syndrome",["Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome","Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome"]],[171860,"OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome"],[171863,"Autosomal dominant spastic paraplegia type 42",["SPG42"]],[171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",["SEMD, aggrecan type"]],[171871,"Renal pseudohypoaldosteronism type 1",["Autosomal dominant PHA1","Autosomal dominant pseudohypoaldosteronism type 1","Renal PHA1"]],[171876,"Generalized pseudohypoaldosteronism type 1",["Autosomal recessive PHA1","Autosomal recessive pseudohypoaldosteronism type 1","Generalized PHA1"]],[171881,"Cap myopathy",["Cap disease"]],[171886,"Cylindrical spirals myopathy"],[171889,"Myopathy with hexagonally cross-linked tubular arrays"],[171895,"Myeloid hemopathy"],[171898,"Lymphoid hemopathy"],[171901,"Primary cutaneous T-cell lymphoma"],[171915,"B-cell non-Hodgkin lymphoma",["B-cell NHL"]],[171918,"T-cell non-Hodgkin lymphoma",["T-cell NHL"]],[171929,"Trisomy 10p syndrome"],[172973,"OBSOLETE: Congenital myopathy with protein accumulation"],[172976,"Congenital myopathy with cores"],[172979,"OBSOLETE: Congenital myopathy with central nuclei"],[172982,"OBSOLETE: Congenital myopathy with fiber size variation"],[172985,"OBSOLETE: Congenital myopathy with vacuoles"],[174590,"Congenital hypogonadotropic hypogonadism"],[177101,"Rare adult hypothyroidism"],[177107,"Syndromic hypothyroidism"],[177901,"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"],[177904,"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"],[177907,"Prader-Willi syndrome due to translocation"],[177910,"Prader-Willi syndrome due to imprinting mutation"],[177926,"Bleeding disorder in hemophilia A carriers"],[177929,"Bleeding disorder in hemophilia B carriers"],[178025,"Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations"],[178029,"Arginine vasopressin deficiency",["CDI","Neurogenic diabetes insipidus"]],[178040,"Rare peripheral precocious puberty"],[178045,"Transient congenital hypothyroidism"],[178145,"Moderate multiminicore disease with hand involvement"],[178148,"Antenatal multiminicore disease with arthrogryposis multiplex congenita"],[178303,"8q22.1 microdeletion syndrome",["Monosomy 8q22.1","Nablus mask-like facial syndrome"]],[178307,"Reticulate acropigmentation of Kitamura",["RAK"]],[178311,"Isolated sternocostoclavicular hyperostosis",["Isolated SCCH"]],[178315,"Undifferentiated embryonal sarcoma of the liver",["Embryonal sarcoma of the liver","UES","Undifferentiated sarcoma of the liver"]],[178320,"Acute lung injury"],[178330,"OBSOLETE: Heinz body anemia"],[178333,"Åland Islands eye disease",["AIED","Forsius-Eriksson syndrome","Forsius-Eriksson type ocular albinism"]],[178338,"UV-sensitive syndrome"],[178342,"Inflammatory myofibroblastic tumor"],[178345,"Aromatase excess syndrome",["AEXS","Familial hyperestrogenism","Hereditary prepubertal gynecomastia"]],[178355,"Smith-McCort dysplasia"],[178364,"Syndromic microphthalmia type 5",["MCOPS5","Syndromic microphthalmia/anophthalmia due to OTX2 mutation"]],[178377,"Osteosclerosis-developmental delay-craniosynostosis syndrome"],[178382,"Congenital vertical talus",["Congenital convex foot","Congenital convex pes valgus","Congenital rocker-bottom foot"]],[178389,"Osteopetrosis-hypogammaglobulinemia syndrome",["Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia","Autosomal recessive osteopetrosis type 7"]],[178396,"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"],[178400,"Distal myopathy with anterior tibial onset",["Distal anterior compartment myopathy"]],[178461,"X-linked myopathy with postural muscle atrophy",["XMPMA"]],[178464,"Hereditary myopathy with early respiratory failure",["Edström Myopathy","HIBM-ERF","HMERF","Hereditary inclusion body myopathy with early respiratory failure","MFM-titinopathy","Myofibrillar myopathy with early respiratory failure","Myofibrillar myopathy-titinopathy"]],[178469,"Autosomal dominant non-syndromic intellectual disability"],[178475,"Wound botulism",["Cutaneous infectious botulism","Cutaneous toxin-mediated botulism","Inoculation botulism","Skin infectious botulism","Skin toxin-mediated botulism"]],[178478,"Infant botulism",["Infant intestinal botulism","Infant intestinal toxemia botulism","Infant intestinal toxin-mediated botulism","Infantile botulism"]],[178481,"Intestinal botulism",["Intestinal colonization botulism","Intestinal toxemia botulism","Intestinal toxin-mediated botulism"]],[178487,"Adult intestinal botulism",["Adult intestinal colonization botulism","Adult intestinal toxemia botulism","Adult intestinal toxin-mediated botulism","Infant-like botulism"]],[178493,"NON RARE IN EUROPE: Myopic macular degeneration",["NON RARE IN EUROPE: Myopic maculopathy"]],[178503,"Dursun syndrome",["Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome"]],[178506,"Interstitial lung disease-brain calcification syndrome",["Brain calcification, Rajab type","Developmental delay-brain calcification-interstitial lung disease syndrome","Interstitial lung disease-brain calcification syndrome, Rajab type"]],[178509,"Perry syndrome",["Parkinsonism with alveolar hypoventilation and mental depression"]],[178512,"Folliculotropic mycosis fungoides",["Mycosis fungoides-associated follicular mucinosis"]],[178517,"Localized pagetoid reticulosis",["Pagetoid reticulosis, Woringer-Kolopp type"]],[178522,"Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma"],[178528,"Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma",["Berti lymphoma","Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma"]],[178533,"Primary cutaneous gamma/delta-positive T-cell lymphoma"],[178536,"Primary cutaneous marginal zone B-cell lymphoma",["PCMZL"]],[178540,"Primary cutaneous follicle center lymphoma",["PCFCL"]],[178544,"Primary cutaneous diffuse large B-cell lymphoma, leg type",["PCDLBCL,LT"]],[178548,"Indolent primary cutaneous T-cell lymphoma"],[178551,"Aggressive primary cutaneous T-cell lymphoma"],[178554,"Aggressive primary cutaneous B-cell lymphoma"],[178557,"Indolent primary cutaneous B-cell lymphoma"],[178563,"Primary cutaneous B-cell lymphoma"],[178566,"Mycosis fungoides and variants"],[178996,"Acquired neutropenia",["Immunologic neutropenia"]],[179006,"Primary immunodeficiency due to a defect in adaptive immunity"],[179490,"Obesity due to congenital leptin resistance"],[179494,"Obesity due to leptin receptor gene deficiency"],[180062,"Uterovaginal malformation"],[180065,"Non-syndromic uterovaginal malformation"],[180068,"Partial bilateral aplasia of the Müllerian ducts",["Incomplete bilateral aplasia of the Müllerian ducts"]],[180071,"Unilateral aplasia of the Müllerian ducts",["Unicornuate uterus"]],[180074,"True unicornuate uterus",["Complete unilateral Müllerian aplasia","Complete unilateral aplasia of the Müllerian ducts","Unicornuate uterus without rudimentary horn"]],[180079,"Pseudounicornuate uterus",["Incomplete unilateral Müllerian aplasia","Incomplete unilateral aplasia of the Müllerian ducts","Unicornuate uterus with rudimentary horn"]],[180086,"Didelphys uterus",["Bicervical bicornuate uterus"]],[180106,"Bicervical bicornuate uterus and blind hemivagina"],[180111,"Bicervical bicornuate uterus with patent cervix and vagina"],[180114,"Unicervical bicornuate uterus"],[180118,"NON RARE IN EUROPE: Cordiform uterus",["NON RARE IN EUROPE: Uterus arcuatus","NON RARE IN EUROPE: Uterus cordiformis"]],[180122,"Septate uterus"],[180126,"Complete septate uterus",["Total septate uterus"]],[180129,"Partial septate uterus",["Subtotal septate uterus","Uterus subseptus"]],[180134,"Bicornuate uterus"],[180139,"Uterine hypoplasia"],[180142,"Absence of uterine body"],[180145,"Uterine cervical aplasia and agenesis"],[180148,"Syndromic uterovaginal malformation"],[180151,"Rare vaginal malformation"],[180154,"Septate vagina"],[180157,"Longitudinal vaginal septum"],[180160,"Transverse vaginal septum"],[180163,"Rare breast malformation"],[180170,"Excess breast volume or number"],[180173,"Deficient breast volume or number"],[180176,"Familial juvenile hypertrophy of the breast",["Familial juvenile gigantomastia","Virginal breast hypertrophy"]],[180182,"Supernumerary breasts",["Polymastia","Accessory breasts"]],[180188,"Isolated congenital breast hypoplasia/aplasia",["Isolated congenital amastia"]],[180193,"Syndromic breast hypoplasia/aplasia"],[180199,"Rare non-malformative gynecologic or obstetric disease"],[180202,"Rare non-malformative breast disease"],[180205,"Rare non-malformative uterovaginal or vulvovaginal disease"],[180208,"Anomaly of puberty or/and menstrual cycle"],[180220,"Rare uterine adnexal tumor"],[180226,"Embryonal carcinoma"],[180229,"Polyembryoma"],[180234,"Mixed germ cell tumor"],[180237,"Benign tumor of fallopian tubes"],[180242,"Malignant tumor of fallopian tubes",["Cancer of fallopian tubes","Malignant tubal tumor","Tubal cancer"]],[180247,"Vaginal carcinoma",["Vaginal malignant epithelial tumor"]],[180250,"Rare breast tumor"],[180253,"Rare benign breast tumor"],[180257,"Rare malignant breast tumor",["Rare breast cancer"]],[180261,"Phyllodes tumor of the breast"],[180267,"Giant adenofibroma of the breast"],[180275,"Paget disease of the nipple",["Mammary Paget disease","Paget disease of the breast","Paget's disease of the nipple"]],[180284,"NON RARE IN EUROPE: Benign ductal tumor of breast"],[180303,"Rare non-malformative uterine adnexal disease"],[180312,"Rare vulvovaginal tumor"],[180766,"Malformative syndrome with dentinogenesis imperfecta"],[180772,"Rare disease with autism"],[180776,"Non-syndromic diaphragmatic or thoracic malformation"],[180779,"Syndromic diaphragmatic or thoracic malformation"],[180821,"Rare gastroesophageal tumor"],[180824,"Rare tumor of pancreas",["Rare pancreatic tumor"]],[181368,"Rare insulin-resistance syndrome"],[181371,"Rare diabetes mellitus type 1",["Rare insulin-dependent diabetes mellitus"]],[181376,"Rare diabetes mellitus type 2",["Rare insulin-independent diabetes mellitus"]],[181381,"Other rare diabetes mellitus"],[181384,"Rare hypothalamic or pituitary disease"],[181387,"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism"],[181390,"Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature"],[181393,"Growth hormone insensitivity syndrome",["GHIS","Short stature due to a defect in growth hormone receptor or post-receptor pathway"]],[181396,"Rare hypothyroidism"],[181399,"Rare hyperthyroidism"],[181402,"Syndrome with hypoparathyroidism"],[181405,"Rare hypoparathyroidism"],[181408,"Rare hyperparathyroidism"],[181412,"Adrenogenital syndrome"],[181415,"Rare primary hyperaldosteronism",["Rare primary aldosteronism"]],[181419,"Rare hypoaldosteronism"],[181422,"Rare hyperlipidemia"],[181425,"OBSOLETE: Rare major hypertriglyceridemia"],[181428,"Familial Hyperalphalipoproteinemia"],[181431,"Rare hypolipidemia"],[181437,"Rare syndromic dyslipidemia"],[181441,"Rare disorder with hypergonadotropic hypogonadism",["Rare disorder with primary hypogonadism"]],[182040,"Rare aplastic anemia"],[182043,"Rare constitutional hemolytic anemia"],[182047,"Rare acquired hemolytic anemia"],[182050,"MYH9-related syndromic thrombocytopenia",["MYH9-RD","MYH9-related disorder","MYH9-related syndrome"]],[182054,"Rare thrombotic disease of hematologic origin"],[182058,"Primary orthostatic hypotension"],[182061,"Cerebellar malformation"],[182064,"Rare neuroinflammatory or neuroimmunological disease"],[182067,"Glial tumor",["Glioma"]],[182070,"Rare neurodegenerative disease"],[182073,"OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability"],[182076,"OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability"],[182079,"ARX-related epileptic encephalopathy"],[182083,"Channelopathy with epilepsy"],[182086,"Acquired peripheral neuropathy"],[182090,"Pulmonary arterial hypertension",["PAH"]],[182095,"Interstitial lung disease",["ILD"]],[182098,"Pneumoconiosis"],[182101,"Idiopathic eosinophilic pneumonia"],[182104,"Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease",["CTD-ILD","Secondary ILD in childhood and adulthood associated with a connective tissue disease"]],[182108,"Thoracic malformation"],[182111,"Respiratory malformation"],[182114,"Rare urogenital tumor"],[182117,"Non-syndromic urogenital tract malformation of female"],[182121,"Non-syndromic urogenital tract malformation of male"],[182124,"Non-syndromic urogenital tract malformation of male and female"],[182127,"Extragonadal germinoma"],[182130,"Tumor of endocrine glands"],[182214,"OBSOLETE: Rare inflammatory eye disease"],[182222,"Rare systemic disease"],[182228,"Systemic autoimmune disease"],[182231,"Rare rheumatologic disease"],[182734,"Genetic urticaria"],[183422,"Polymalformative genetic syndrome with increased risk of developing cancer"],[183426,"Genetic epidermal disorder"],[183435,"Inherited ichthyosis",["Genetic ichthyosis"]],[183438,"Genetic erythrokeratoderma"],[183441,"Genetic acrokeratoderma"],[183444,"Genetic porokeratosis"],[183447,"Genetic epidermal appendage anomaly"],[183450,"Genetic hair anomaly"],[183454,"Genetic nail anomaly"],[183460,"Genetic sebaceous gland anomaly"],[183463,"Genetic pigmentation anomaly of the skin"],[183466,"Genetic hyperpigmentation of the skin"],[183469,"Genetic hypopigmentation of the skin"],[183472,"Genetic dermis disorder"],[183478,"Genetic skin vascular disorder"],[183481,"Genetic mixed dermis disorder"],[183484,"Genetic subcutaneous tissue disorder"],[183487,"Genetic skin tumor or hamartoma"],[183490,"Genetic photodermatosis",["Genetic skin photosensitivity","Photogenodermatosis"]],[183494,"Genetic immune deficiency with skin involvement"],[183497,"Genetic neuromuscular disease"],[183500,"Genetic neurodegenerative disease"],[183503,"Genetic central nervous system and retinal vascular disease"],[183506,"Genetic central nervous system malformation"],[183509,"Rare genetic headache"],[183512,"Rare genetic epilepsy"],[183515,"Rare genetic medullar disease"],[183518,"Hereditary ataxia"],[183521,"Rare genetic movement disorder"],[183524,"Rare genetic bone disease"],[183527,"Genetic bone tumor"],[183530,"Rare genetic developmental defect during embryogenesis"],[183533,"Genetic multiple congenital anomalies/dysmorphic syndrome"],[183536,"Genetic congenital limb malformation"],[183539,"Genetic renal or urinary tract malformation"],[183542,"Genetic cranial malformation"],[183545,"Genetic digestive tract malformation"],[183548,"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen"],[183554,"Genetic respiratory or mediastinal malformation"],[183557,"Genetic developmental defect of the eye"],[183570,"Genetic malformation syndrome with short stature"],[183573,"Genetic overgrowth/obesity syndrome"],[183576,"Genetic branchial arch or oral-acral syndrome"],[183580,"Genetic malformation syndrome with odontal and/or periodontal component"],[183583,"Genetic head and neck malformation"],[183586,"Genetic glomerular disease"],[183589,"Genetic thrombotic microangiopathy"],[183592,"Genetic renal tubular disease"],[183595,"Genetic renal tumor"],[183598,"OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease"],[183601,"OBSOLETE: Rare genetic refraction anomaly"],[183604,"OBSOLETE: Rare genetic glaucoma"],[183607,"Genetic lens and zonula anomaly"],[183616,"Genetic neuro-ophthalmological disease"],[183619,"Genetic eye tumor"],[183622,"Genetic respiratory malformation"],[183625,"Rare genetic diabetes mellitus"],[183628,"Rare genetic hypothalamic or pituitary disease"],[183631,"Rare genetic thyroid disease"],[183634,"Rare genetic parathyroid disease and phosphocalcic metabolism disorder"],[183637,"Rare genetic adrenal disease"],[183643,"Genetic polyendocrinopathy"],[183651,"Rare constitutional anemia"],[183654,"Rare genetic coagulation disorder"],[183660,"Severe combined immunodeficiency",["SCID"]],[183663,"Hyper-IgM syndrome with susceptibility to opportunistic infections",["HIGM with susceptibility to opportunistic infections"]],[183666,"Hyper-IgM syndrome without susceptibility to opportunistic infections",["HIGM without susceptibility to opportunistic infections"]],[183669,"Agammaglobulinemia"],[183672,"OBSOLETE: Common variable immunodeficiency due to TNFR deficiency",["OBSOLETE: CVID due to TNFR deficiency"]],[183675,"Recurrent infections associated with rare immunoglobulin isotypes deficiency",["IgG subclass deficiency with IgA subclass deficiency","Isolated IgG subclass deficiency","Kappa-chain deficiency","Selective IgG subclass deficiency"]],[183678,"Hermansky-Pudlak syndrome due to AP-3 deficiency",["Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency","Hermansky-Pudlak syndrome with neutropenia"]],[183681,"Congenital functional phagocyte defect",["Constitutional functional phagocyte defect","Congenital functional defect of phagocyte"]],[183707,"Infantile LAD-like disease due to RAC2 deficiency",["Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency"]],[183710,"Genetic susceptibility to infections due to particular pathogens"],[183713,"OBSOLETE: Bacterial susceptibility due to TLR signaling pathway deficiency"],[183716,"OBSOLETE: Other complex syndrome of primary immunodeficiency"],[183731,"Rare genetic gynecological and obstetrical diseases"],[183734,"Genetic gynecological tumor"],[183757,"Rare genetic intellectual disability"],[183763,"Rare genetic syndromic intellectual disability"],[183770,"Rare genetic immune disease"],[189424,"OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia"],[189427,"Cushing syndrome due to bilateral macronodular adrenocortical disease",["CS due to BMACD","CS due to BMAD","Cushing syndrome due to BMACD","Cushing syndrome due to BMAD","Cushing syndrome due to macronodular adrenal hyperplasia","Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia"]],[189439,"OBSOLETE: Primary pigmented nodular adrenocortical disease",["OBSOLETE: PPNAD","OBSOLETE: Primary pigmented nodular adrenal dysplasia"]],[189466,"Familial isolated hypoparathyroidism due to impaired PTH secretion"],[199241,"Pulmonary capillary hemangiomatosis"],[199244,"Nelson syndrome"],[199247,"Corticosteroid-binding globulin deficiency",["Transcortin deficiency"]],[199251,"Ledderhose disease",["Plantar fibromatosis"]],[199257,"Superficial fibromatosis"],[199260,"Calcifying aponeurotic fibroma",["Juvenile aponeurotic fibromatosis","Keasby tumor"]],[199267,"Infantile digital fibromatosis",["Inclusion body fibromatosis","Recurring digital fibrous tumor of childhood","Reye tumor"]],[199276,"Familial multiple lipomatosis"],[199279,"Familial angiolipomatosis"],[199282,"Harlequin syndrome",["Progressive isolated segmental anhidrosis"]],[199285,"Hereditary hypercarotenemia and vitamin A deficiency"],[199293,"Congenital microgastria"],[199296,"Congenital isolated ACTH deficiency"],[199299,"Late-onset isolated ACTH deficiency"],[199302,"Isolated cleft lip"],[199306,"Cleft lip/palate",["Alveolar cleft lip and palate","Cleft lip and palate","Cleft lip-alveolus-palate syndrome","FLP"]],[199310,"Tetragametic chimerism syndrome",["46,XX/46,XY chimerism"]],[199315,"Familial clubfoot with or without associated lower limb anomalies"],[199318,"15q13.3 microdeletion syndrome",["Del(15)(q13.3)","Monosomy 15q13.3"]],[199323,"Endophthalmitis"],[199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type"],[199329,"Congenital myopathy, Paradas type"],[199332,"Endocrine-cerebro-osteodysplasia syndrome",["ECO syndrome"]],[199337,"Pancreatic insufficiency-anemia-hyperostosis syndrome"],[199340,"BAG3-related myofibrillar myopathy",["MFM6","Myofibrillar myopathy type 6"]],[199343,"EAST syndrome",["Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome","Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome","SeSAME syndrome","Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome","Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome"]],[199348,"Thiamine-responsive encephalopathy"],[199351,"PLA2G6-related neurodegeneration, adult-onset",["Dystonia-parkinsonism, Paisan-Ruiz type","PARK14","PLA2G6-related dystonia-parkinsonism","PLA2G6-associated neurodegeneration, adult-onset","Adult-onset dystonia-parkinsonism","Adult PLAN","Adult phospholipase A2-associated neurodegeneration"]],[199354,"Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy",["CARASIL","Maeda syndrome"]],[199627,"Atypical autism"],[199630,"Isolated cerebellar vermis hypoplasia"],[199633,"Non-syndromic cerebral malformation",["Non-syndromic brain malformation"]],[199639,"Syndrome with corpus callosum agenesis/dysgenesis as a major feature"],[199642,"Isolated congenital microcephaly"],[199647,"Isolated encephalocele"],[200037,"Paroxysmal dystonia"],[200418,"Immunodeficiency with factor I anomaly",["Complete factor I deficiency"]],[200421,"Immunodeficiency with factor H anomaly"],[202940,"Anomaly of puberty or/and menstrual cycle of genetic origin"],[202948,"Syndromic microphthalmia-anophthalmia-coloboma",["Syndromic microphthalmia"]],[206428,"Hypoxanthine-guanine phosphoribosyltransferase deficiency",["HPRT deficiency","HPRT1 deficiency","Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency"]],[206436,"Infantile Krabbe disease",["Krabbe disease, classic form","Krabbe disease, early-onset"]],[206443,"Late-infantile/juvenile Krabbe disease",["Krabbe disease, late-onset"]],[206448,"Adult Krabbe disease"],[206470,"Cystadenoma of childhood",["Cystadenoma of ovary in childhood"]],[206473,"OBSOLETE: Borderline epithelial tumor of ovary",["OBSOLETE: Borderline ovarian epithelial tumor","OBSOLETE: Ovarian tumor of low malignant potential"]],[206484,"Gonadoblastoma"],[206489,"Malignant germ cell tumor of the vagina",["Vaginal germ cell cancer","Vaginal germ cell malignant tumor"]],[206492,"Vulvovaginal rhabdomyosarcoma"],[206538,"Malignant non-dysgerminomatous germ cell tumor of ovary",["Non-dysgerminomatous germ cell cancer of ovary"]],[206546,"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"],[206549,"Anoctamin-5-related limb-girdle muscular dystrophy R12",["Anoctamin-5-related LGMD R12","Autosomal recessive limb-girdle muscular dystrophy type 2L","LGMD type 2L","LGMD2L","Limb-girdle muscular dystrophy type 2L"]],[206554,"Fukutin-related limb-girdle muscular dystrophy R13",["Autosomal recessive LGMD type 2M","Autosomal recessive limb-girdle muscular dystrophy type 2M","Fukutin-related LGMD R13","LGMD type 2M","LGMD2M"]],[206559,"POMT2-related limb-girdle muscular dystrophy R14",["Autosomal recessive limb-girdle muscular dystrophy type 2N","LGMD type 2N","LGMD2N","Limb-girdle muscular dystrophy type 2N","POMT2-related LGMD R14"]],[206564,"POMGNT1-related limb-girdle muscular dystrophy R15",["Autosomal recessive limb-girdle muscular dystrophy type 2O","LGMD type 2O","LGMD2O","Limb-girdle muscular dystrophy type 2O","POMGNT1-related LGMD R15"]],[206569,"Immune-mediated necrotizing myopathy",["AINM","Autoimmune necrotizing myositis","IMNM","NAM","Necrotizing autoimmune myositis"]],[206572,"Overlap myositis",["Adult-onset overlap myositis","Non-specific myositis"]],[206575,"Rippling muscle disease with myasthenia gravis",["Acquired rippling muscle disease","Immune-mediated rippling muscle disease"]],[206580,"Autosomal recessive lower motor neuron disease with childhood onset",["Autosomal recessive distal spinal muscular atrophy type 4","Distal spinal muscular atrophy type 4","dSMA4"]],[206583,"Adult polyglucosan body disease",["APBD"]],[206586,"Neurolymphomatosis"],[206594,"Subacute inflammatory demyelinating polyneuropathy",["Subacute inflammatory demyelinating polyradiculoneuropathy"]],[206599,"Isolated asymptomatic elevation of creatine phosphokinase",["Idiopathic asymptomatic hyperCKemia","Isolated asymptomatic hyperCKemia"]],[206606,"OBSOLETE: Other muscle weakness and/or chronic muscle pain"],[206610,"OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain"],[206613,"Infectious disease with peripheral neuropathy"],[206616,"OBSOLETE: Acquired metabolic neuropathy"],[206619,"OBSOLETE: Toxic or/and iatrogenic neuropathy"],[206634,"Genetic skeletal muscle disease"],[206638,"Acquired skeletal muscle disease"],[206644,"Progressive muscular dystrophy"],[206647,"Myotonic dystrophy"],[206650,"Autosomal dominant distal myopathy"],[206653,"Autosomal recessive distal myopathy"],[206656,"Non-dystrophic myopathy"],[206659,"OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly"],[206662,"Inclusion myopathy"],[206701,"Bulbospinal muscular atrophy"],[206704,"Bulbospinal muscular atrophy of childhood"],[206707,"Bulbospinal muscular atrophy of adult"],[206710,"Generalized bulbospinal muscular atrophy"],[206713,"OBSOLETE: Distal spinal muscular atrophy"],[206953,"Muscular lipidosis",["Lipid storage myopathy"]],[206959,"Muscular glycogenosis",["Glycogen storage myopathy"]],[206966,"Mitochondrial myopathy"],[206970,"Myotonic syndrome"],[206973,"Congenital myotonia"],[206976,"Periodic paralysis"],[206979,"OBSOLETE: Granulomatous myositis"],[206982,"Muscular tumor"],[206985,"OBSOLETE: Drug and/or toxic myopathy"],[206988,"Infectious, fungal or parasitic myopathy"],[206991,"Viral myositis"],[206994,"Bacterial myositis"],[206997,"Parasitic myositis"],[207000,"Fungal myositis"],[207003,"OBSOLETE: Endocrine myopathy"],[207006,"OBSOLETE: Acquired amyloid myopathy"],[207009,"OBSOLETE: Acquired rod-body myopathy"],[207012,"Spinal muscular atrophy associated with central nervous system anomaly"],[207015,"Rare hereditary disease with peripheral neuropathy"],[207018,"Rare hereditary metabolic disease with peripheral neuropathy"],[207021,"Rare hereditary systemic disease with peripheral neuropathy"],[207025,"Rare hereditary neurologic disease with peripheral neuropathy"],[207028,"Cerebellar ataxia with peripheral neuropathy"],[207031,"OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy"],[207038,"Acute and subacute inflammatory demyelinating polyneuropathy",["Acute and subacute inflammatory demyelinating polyradiculoneuropathy"]],[207046,"Malignant lymphoma with peripheral neuropathy"],[207049,"Qualitative or quantitative protein defects in neuromuscular diseases"],[207052,"Qualitative or quantitative defects of sarcoglycan",["Sarcoglycanopathy"]],[207060,"Qualitative or quantitative defects of alpha-sarcoglycan"],[207063,"Qualitative or quantitative defects of beta-sarcoglycan"],[207067,"Qualitative or quantitative defects of gamma-sarcoglycan"],[207070,"Qualitative or quantitative defects of delta-sarcoglycan"],[207073,"Qualitative or quantitative defects of dysferlin",["Dysferlinopathy"]],[207078,"Qualitative or quantitative defects of caveolin-3",["Caveolinopathy"]],[207085,"Qualitative or quantitative defects of dystrophin",["Dystrophinopathy"]],[207090,"Qualitative or quantitative defects of collagen 6"],[207094,"Laminin subunit alpha 2-related muscular dystrophy",["LAMA2-related muscular dystrophy","Qualitative or quantitative defects of merosin"]],[207098,"Qualitative or quantitative defects of integrin alpha-7",["Integrinopathy"]],[207101,"Qualitative or quantitative defects of perlecan"],[207104,"Qualitative or quantitative defects of calpain"],[207107,"Qualitative or quantitative defects of TRIM32"],[207110,"Qualitative or quantitative defects of myotubularin"],[207113,"Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",["Secondary alpha-dystroglycanopathy","Secondary dystroglycanopathy"]],[207119,"Qualitative or quantitative defects of FKRP"],[207122,"Qualitative or quantitative defects of fukutin"],[208441,"Bilateral parasagittal parieto-occipital polymicrogyria"],[208444,"Bilateral frontal polymicrogyria"],[208447,"Bilateral generalized polymicrogyria"],[208508,"Autosomal dominant cerebellar ataxia type II",["ADCA2","ADCAII","Autosomal dominant cerebellar ataxia type 2"]],[208513,"Spinocerebellar ataxia type 29",["Congenital nonprogressive spinocerebellar ataxia","SCA29"]],[208524,"Herpetiform pemphigus"],[208593,"Genetic hypoparathyroidism"],[208596,"Genetic hyperparathyroidism"],[208600,"OBSOLETE: Papillary fibroelastoma of the heart",["OBSOLETE: Cardiac papillary fibroelastoma"]],[208650,"NLRP3-associated autoinflammatory disease",["CAPS","Cryopyrin associated periodic syndrome","Cryopyrinopathy","NLRP3-associated AID","NLRP3-associated autoinflammatory syndrome"]],[208974,"Chronic acquired demyelinating polyneuropathy",["CADP"]],[208978,"Chronic polyradiculoneuropathy"],[208981,"OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies"],[208984,"Acquired sensory ganglionopathy",["Acquired sensory neuronopathy"]],[208989,"Non-paraneoplastic sensory ganglionopathy",["Non-paraneoplastic sensory neuronopathy"]],[208994,"OBSOLETE: Other ganglionopathy related to autoimmune diseases",["OBSOLETE: Other neuronopathy related to autoimmune diseases"]],[208999,"Paraneoplastic sensory ganglionopathy",["Paraneoplastic sensory neuronopathy"]],[209004,"Polyneuropathy associated with IgM monoclonal gammopathy"],[209007,"Systemic inflammatory disease associated with an acquired peripheral neuropathy"],[209010,"Peripheral neuropathy associated with monoclonal gammopathy"],[209013,"Acquired amyloid peripheral neuropathy"],[209016,"Hematological disease associated with an acquired peripheral neuropathy"],[209019,"Solid tumor associated with an acquired peripheral neuropathy"],[209024,"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase",["Qualitative or quantitative defects of protein POMGNT1"]],[209027,"Qualitative or quantitative defects of protein glycosyltransferase-like"],[209030,"Qualitative or quantitative defects of protein O-mannosyltransferase 1"],[209033,"Qualitative or quantitative defects of protein O-mannosyltransferase 2"],[209038,"Qualitative or quantitative defects of myofibrillar proteins"],[209041,"Qualitative or quantitative defects of desmin"],[209044,"Qualitative or quantitative defects of alphaB-cristallin"],[209047,"Qualitative or quantitative defects of filamin C"],[209050,"Qualitative or quantitative defects of protein ZASP"],[209053,"Qualitative or quantitative defects of titin"],[209056,"Qualitative or quantitative defects of telethonin"],[209059,"Qualitative or quantitative defects of alpha-actin"],[209182,"Qualitative or quantitative defects of nebulin"],[209185,"Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)"],[209188,"Qualitative or quantitative defects of emerin"],[209193,"Qualitative or quantitative defects of selenoprotein N1"],[209196,"Qualitative or quantitative defects of plectin"],[209199,"Qualitative or quantitative defects of protein SERCA1"],[209203,"Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -"],[209224,"Myotilinopathy",["Qualitative or quantitative defects of myotilin"]],[209335,"Autosomal dominant adult-onset proximal spinal muscular atrophy",["Autosomal dominant adult-onset proximal SMA","Autosomal dominant late-onset spinal muscular atrophy, Finkel type","Finkel disease","SMAFK"]],[209341,"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy",["DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy","SMALED1"]],[209370,"MECP2-related severe neonatal encephalopathy",["Severe congenital encephalopathy due to MECP2 mutation"]],[209867,"Isolated ocular Stickler syndrome",["Autosomal dominant rhegmatogenous retinal detachment"]],[209886,"OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1",["OBSOLETE: FJHN type 1","OBSOLETE: Familial juvenile gouty nephropathy","OBSOLETE: Familial nephropathy with gout","OBSOLETE: UMOD-associated FJHN","OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy"]],[209893,"NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency",["NON RARE IN EUROPE: Congenital isolated TBG deficiency"]],[209902,"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"],[209905,"Brain-lung-thyroid syndrome",["Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome"]],[209908,"Isolated childhood apraxia of speech",["Isolated CAS","Isolated developmental verbal dyspraxia","Pure CAS","Pure childhood apraxia of speech","Speech and language disorder with orofacial dyspraxia","Speech-language disorder type 1"]],[209916,"Extraskeletal myxoid chondrosarcoma"],[209919,"Idiopathic copper-associated cirrhosis",["Non-Wilsonian hepatic copper toxicosis of infancy and childhood"]],[209932,"Cone dystrophy with supernormal rod response",["Cone dystrophy with supernormal rod ERG","Cone dystrophy with supernormal rod electroretinogram","Cone dystrophy with supernormal scotopic electroretinogram"]],[209943,"IRVAN syndrome",["Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome"]],[209951,"Autosomal spastic paraplegia type 18",["SPG18"]],[209956,"Idiopathic uveal effusion syndrome"],[209959,"Phacoanaphylactic uveitis",["Endophthalmitis phacoanaphylactica","Lens-induced endophthalmitis","Lens-induced iridocyclitis","Lens-induced uveitis","Phacoallergic endophthalmitis","Phacoantigenic endophthalmitis","Phako-anaphylactic endophthalmitis"]],[209964,"Solitary rectal ulcer syndrome"],[209967,"Episodic ataxia type 6"],[209970,"Episodic ataxia type 7"],[209973,"Benign nocturnal alternating hemiplegia of childhood"],[209978,"Alternating hemiplegia"],[209981,"IRIDA syndrome",["Iron-refractory iron deficiency anemia"]],[209989,"NON RARE IN EUROPE: Non-papillary transitional cell carcinoma of the bladder",["NON RARE IN EUROPE: Non-papillary urothelial carcinoma"]],[210110,"Intermediate osteopetrosis",["Autosomal recessive intermediate osteopetrosis"]],[210115,"Sterile multifocal osteomyelitis with periostitis and pustulosis",["Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency","DIRA","Interleukin-1 receptor antagonist deficiency","OMPP"]],[210122,"Congenital alveolar capillary dysplasia",["ACDMPV","Alveolar capillary dysplasia with misalignment of pulmonary veins","Alveolar capillary dysplasia with misalignment of pulmonary vessels"]],[210128,"Urocanic aciduria",["Encephalopathy due to urocanase deficiency"]],[210133,"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"],[210136,"Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome"],[210141,"Inherited congenital spastic tetraplegia",["Inherited congenital spastic quadriplegia"]],[210144,"Lethal polymalformative syndrome, Boissel type"],[210159,"Adult hepatocellular carcinoma",["Adult HCC"]],[210163,"Congenital lethal myopathy, Compton-North type"],[210272,"Mal de débarquement",["Disembarkment syndrome","MdD","MdDS","Sickness of disembarkment"]],[210548,"Macrocephaly-intellectual disability-autism syndrome"],[210566,"Myoclonic dystonia 15",["DYT15","Myoclonus-dystonia type 15"]],[210571,"Dystonia 16",["DYT16","Early-onset dystonia parkinsonism"]],[210576,"Congenital temporomandibular joint ankylosis",["Congenital trismus"]],[210581,"Temporomandibular joint anomaly"],[210584,"Spindle cell hemangioma",["Spindle cell haemangioma","Spindle cell hemangioendothelioma"]],[210589,"Rare infantile hemangioma",["Infantile haemangioma of rare localization","Infantile hemangioma of rare localization","Rare infantile haemangioma"]],[210592,"OBSOLETE: Giant infantile hemangioma"],[211017,"Spinocerebellar ataxia type 30",["SCA30"]],[211037,"Autosomal dominant proximal spinal muscular atrophy"],[211047,"Specific learning disability",["Specific learning difficulty","Specific learning disorder"]],[211053,"Specific language disorder",["Dysphasia"]],[211062,"Hereditary episodic ataxia"],[211067,"Episodic ataxia type 5"],[211237,"Rare vascular tumor"],[211240,"Genetic vascular anomaly"],[211243,"OBSOLETE: Simple vascular malformation"],[211247,"Rare capillary malformation"],[211252,"Slow-flow malformation, venous type",["Rare venous malformation"]],[211255,"Slow-flow malformation, lymphatic type"],[211266,"Fast-flow vascular malformation",["Rare arteriovenous malformation"]],[211277,"Syndromic combined vascular malformation",["Complex vascular malformation with associated anomalie"]],[213500,"Rare ovarian cancer",["Rare ovarian malignant tumor"]],[213504,"Adenocarcinoma of ovary",["Ovarian adenocarcinoma"]],[213512,"Malignant mixed Müllerian tumor of the ovary",["MMMT of the ovary","Ovarian carcinosarcoma","Ovarian malignant mixed Müllerian tumor","Ovarian malignant mixed epithelial mesenchymal tumor"]],[213517,"OBSOLETE: Familial ovarian cancer",["OBSOLETE: Familial ovarian malignant tumor"]],[213524,"Hereditary site-specific ovarian cancer syndrome"],[213528,"Rare adenocarcinoma of the breast"],[213531,"Metaplastic carcinoma of the breast"],[213557,"Salivary gland type cancer of the breast",["Salivary gland type carcinoma of the breast"]],[213564,"Rare uterine cancer",["Rare cancer of uterus","Rare malignant tumor of uterus","Rare uterine malignant tumor"]],[213569,"Rare cancer of corpus uteri",["Rare malignant tumor of corpus uteri"]],[213574,"OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri"],[213589,"Malignant mixed epithelial and mesenchymal tumor of corpus uteri",["Mixed epithelial and mesenchymal cancer of corpus uteri"]],[213600,"Adenosarcoma of the corpus uteri"],[213605,"Carcinofibroma of the corpus uteri"],[213610,"Carcinosarcoma of the corpus uteri",["Malignant mixed Müllerian tumor of the corpus uteri","Mixed Müllerian cancer of corpus uteri","Uterine carcinosarcoma"]],[213615,"Rhabdomyosarcoma of the corpus uteri"],[213620,"Sarcoma of the corpus uteri"],[213625,"Leiomyosarcoma of the corpus uteri"],[213630,"Primitive neuroectodermal tumor of the corpus uteri",["Malignant peripheral neuroectodermal tumor of the corpus uteri","Peripheral neuroectodermal cancer of the corpus uteri"]],[213711,"Endometrial stromal sarcoma",["Stromal sarcoma of the corpus uteri"]],[213716,"Squamous cell carcinoma of the corpus uteri",["Endometrial squamous cell carcinoma"]],[213721,"Undifferentiated carcinoma of the corpus uteri",["Endometrial undifferentiated carcinoma"]],[213726,"Serous carcinoma of the corpus uteri",["Endometrial serous carcinoma"]],[213731,"High-grade neuroendocrine carcinoma of the corpus uteri",["High-grade neuroendocrine carcinoma of the uterine corpus","Poorly differentiated neuroendocrine carcinoma of the corpus uteri","Poorly differentiated neuroendocrine carcinoma of the endometrium"]],[213736,"Low-grade neuroendocrine tumor of the corpus uteri",["Low-grade neuroendocrine tumor of the uterine corpus","Well-differentiated neuroendocrine neoplasm of the endometrium","Well-differentiated neuroendocrine tumor of the corpus uteri","Well-differentiated neuroendocrine tumor of the endometrium"]],[213741,"OBSOLETE: Adenoid cystic carcinoma of the corpus uteri",["OBSOLETE: Endometrial adenoid cystic carcinoma"]],[213746,"Transitional cell carcinoma of the corpus uteri",["Endometrial transitional cell carcinoma"]],[213751,"Malignant germ cell tumor of the corpus uteri",["Germ cell cancer of the corpus uteri"]],[213761,"Rare cancer of cervix uteri",["Rare cervical cancer","Rare cervical malignant tumor","Rare malignant tumor of cervix uteri"]],[213767,"Squamous cell carcinoma of the cervix uteri",["Cervical squamous cell carcinoma"]],[213772,"Adenocarcinoma of the cervix uteri",["Cervical adenocarcinoma"]],[213777,"High-grade neuroendocrine carcinoma of the cervix uteri",["High-grade neuroendocrine carcinoma of the uterine cervix","Poorly differentiated neuroendocrine carcinoma of the cervix uteri","Poorly differentiated neuroendocrine cervical carcinoma"]],[213782,"Malignant mixed epithelial and mesenchymal tumor of cervix uteri",["Cervical malignant mixed epithelial and mesenchymal tumor","Mixed epithelial and mesenchymal cancer of cervix uteri"]],[213787,"Carcinosarcoma of the cervix uteri",["Cervical carcinosarcoma","Cervical malignant Müllerian mixed tumor","Malignant Müllerian mixed tumor of the cervix uteri"]],[213792,"Adenosarcoma of the cervix uteri",["Cervical adenosarcoma"]],[213797,"Sarcoma of cervix uteri",["Cervical malignant mesenchymal tumor","Cervical sarcoma","Malignant mesenchymal tumor of cervix uteri"]],[213802,"Rhabdomyosarcoma of the cervix uteri",["Cervical rhabdomyosarcoma"]],[213807,"Leiomyosarcoma of the cervix uteri",["Cervical leiomyosarcoma"]],[213812,"Primitive neuroectodermal tumor of the cervix uteri",["Cervical malignant peripheral neuroectodermal tumor","Cervical peripheral neuroectodermal cancer","Malignant peripheral neuroectodermal tumor of the cervix uteri","Peripheral neuroectodermal cancer of cervix uteri"]],[213817,"OBSOLETE: Papillary carcinoma of the cervix uteri",["OBSOLETE: Cervical papillary carcinoma"]],[213823,"Adenoid cystic carcinoma of the cervix uteri",["Cervical adenoid cystic carcinoma"]],[213828,"Adenoid basal carcinoma of the cervix uteri",["Cervical adenoid basal carcinoma"]],[213833,"Glassy cell carcinoma of the cervix uteri"],[213837,"Malignant germ cell tumor of the cervix uteri",["Cervical germ cell cancer","Cervical malignant germ cell tumor","Germ cell cancer of the cervix uteri"]],[216445,"Prelingual non-syndromic genetic deafness",["Prelingual non-syndromic genetic hearing loss","Isolated prelingual genetic deafness","Isolated prelingual genetic hearing loss"]],[216452,"Postlingual non-syndromic genetic deafness",["Isolated postlingual genetic deafness","Isolated postlingual genetic hearing loss","Postlingual non-syndromic genetic hearing loss"]],[216675,"Transposition of the great arteries",["Complete transposition","TGA","TGV","Transposition of the great vessels"]],[216694,"Congenitally corrected transposition of the great arteries",["Congenitally corrected transposition of the great vessels","Discordant ventriculoarterial and atrioventricular connections","Double discordance"]],[216718,"Isolated congenitally uncorrected transposition of the great arteries",["Isolated congenitally uncorrected transposition of the great vessels"]],[216729,"Congenitally uncorrected transposition of the great arteries with cardiac malformation",["Congenitally uncorrected transposition of the great vessels with cardiac malformation","TGA with cardiac malformation"]],[216796,"Osteogenesis imperfecta type 1",["Non-deforming osteogenesis imperfecta","OI type 1","Van der Hoeve syndrome","Adair-Dighton syndrome","Mild osteogenesis imperfecta"]],[216804,"Osteogenesis imperfecta type 2",["Lethal osteogenesis imperfecta","OI type 2"]],[216812,"Osteogenesis imperfecta type 3",["OI type 3","Progressive deforming osteogenesis imperfecta","Severe osteogenesis imperfecta"]],[216820,"Osteogenesis imperfecta type 4",["OI type 4"]],[216828,"Osteogenesis imperfecta type 5",["OI type 5"]],[216866,"Classic pantothenate kinase-associated neurodegeneration",["NBIA1, classic form","Neurodegeneration with brain iron accumulation type 1, classic form","PKAN, classic form"]],[216873,"Atypical pantothenate kinase-associated neurodegeneration",["NBIA1, atypical form","Neurodegeneration with brain iron accumulation type 1, atypical form","PKAN, atypical form"]],[216972,"Niemann-Pick disease type C, severe perinatal form"],[216975,"Niemann-Pick disease type C, severe early infantile neurologic onset"],[216978,"Niemann-Pick disease type C, late infantile neurologic onset"],[216981,"Niemann-Pick disease type C, juvenile neurologic onset",["Niemann-Pick disease type C, classic form"]],[216986,"Niemann-Pick disease type C, adult neurologic onset"],[216989,"Autosomal dominant dystrophic epidermolysis bullosa, Pasini type",["DDEB, Pasini type"]],[217008,"Segmental venous malformation",["Bockenheimer syndrome","Extensive venous malformation","Genuine diffuse phlebectasia"]],[217012,"Spinocerebellar ataxia type 31",["SCA31"]],[217017,"Zechi-Ceide syndrome",["Occipital atretic cephalocele-unusual facies-large feet syndrome"]],[217023,"OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly",["OBSOLETE: Atypical HUS with thrombomodulin anomaly","OBSOLETE: D- HUS with thrombomodulin anomaly","OBSOLETE: Hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly","OBSOLETE: aHUS with thrombomodulin anomaly"]],[217026,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",["Hadziselimovic syndrome","Microcephaly-faciocardioskeletal syndrome"]],[217031,"NON RARE IN EUROPE: Obesity due to MC3R deficiency"],[217034,"Male infertility with normal virilization due to meiosis defect",["Azoospermia due to maturation arrest","Azoospermia due to meiosis defect","Male infertility with normal virilization due to maturation arrest"]],[217046,"OBSOLETE: Autosomal recessive childhood-onset cortical cataract"],[217049,"OBSOLETE: Rare non-syndromic cataract"],[217052,"OBSOLETE: Infantile non-syndromic cataract"],[217055,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type A",["RI-CMT type A"]],[217059,"Isolated nail clubbing",["Isolated congenital acropachy","Isolated congenital digital clubbing"]],[217064,"5-fluorouracil poisoning",["5-fluorouracil intoxication"]],[217067,"Pouchitis"],[217071,"Renal cell carcinoma",["RCC"]],[217074,"Rare carcinoma of pancreas",["Rare pancreatic carcinoma"]],[217080,"Pulmonary fungal infections in patients deemed at risk"],[217085,"Mucopolysaccharidosis type 2, severe form",["Hunter syndrome type A","Iduronate 2-sulfatase deficiency type A","MPS2A","MPSIIA","Mucopolysaccharidosis type 2, early progressive form","Mucopolysaccharidosis type 2, neuropathic form","Mucopolysaccharidosis type 2A","Mucopolysaccharidosis type II, severe form","Mucopolysaccharidosis type IIA"]],[217093,"Mucopolysaccharidosis type 2, attenuated form",["Hunter syndrome type B","Iduronate 2-sulfatase deficiency type B","MPS2B","MPSIIB","Mucopolysaccharidosis type 2, non-neuropathic form","Mucopolysaccharidosis type 2, slowly progressive form","Mucopolysaccharidosis type 2B","Mucopolysaccharidosis type II, attenuated form","Mucopolysaccharidosis type IIB"]],[217253,"NMDA receptor encephalitis",["Limbic encephalitis with N-methyl-D-aspartate receptor antibodies","Limbic encephalitis with NMDA receptor antibodies","N-methyl-D-aspartate receptor encephalitis","NMDARE","anti-NMDA receptor encephalitis"]],[217260,"Progressive multifocal leukoencephalopathy",["PML","Progressive multifocal leukoencephalitis"]],[217266,"BNAR syndrome",["Bifid nose with or without anorectal and renal anomalies"]],[217315,"Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome",["Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome","Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome","Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome"]],[217330,"REN-related autosomal dominant tubulointerstitial kidney disease",["ADTKD-REN","FJHN type 2","Familial juvenile hyperuricemic nephropathy type 2","REN-associated FJHN","REN-associated familial juvenile hyperuricemic nephropathy","REN-associated kidney disease"]],[217335,"RIN2 syndrome",["MACS syndrome","Macrocephaly-alopecia-cutis laxa-scoliosis syndrome","RIN2 deficiency","Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome"]],[217340,"17q21.31 microduplication syndrome",["Dup(17)(q21.31)","Trisomy 17q21.31"]],[217346,"19q13.11 microdeletion syndrome",["Monosomy 19q13.11","Del(19)(q13.11)"]],[217371,"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",["Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins"]],[217377,"Microduplication Xp11.22p11.23 syndrome",["Dup(X)(p11.22p11.23)","Trisomy Xp11.22p11.23"]],[217382,"Neurodegenerative syndrome due to cerebral folate transport deficiency",["Cerebral folate deficiency","Cerebral folate transport deficiency","Folate receptor alpha deficiency"]],[217385,"17p13.3 microduplication syndrome",["17p13.3 duplication syndrome","Dup(17)(p13.3)","Trisomy 17p13.3"]],[217390,"Combined immunodeficiency due to DOCK8 deficiency",["CID due to DOCK8 deficiency","Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency","DOCK8 immunodeficiency syndrome"]],[217396,"Progressive polyneuropathy with bilateral striatal necrosis"],[217399,"Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation",["Congenital absence of pain with hyperhidrosis","Congenital analgesia with hyperhidrosis","Congenital indifference to pain with hyperhidrosis","Congenital insensitivity to pain with hyperhidrosis"]],[217407,"Hereditary hypotrichosis with recurrent skin vesicles"],[217410,"OBSOLETE: Circumscribed lymphatic malformation",["OBSOLETE: Circumscribed lymphangioma"]],[217454,"Rare hereditary thrombophilia"],[217467,"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency",["Hereditary thrombophilia due to congenital HRG deficiency"]],[217557,"Pulmonary interstitial glycogenosis",["Infantile cellular interstitial pneumonitis","PIG"]],[217560,"Neuroendocrine cell hyperplasia of infancy",["NCHI","NEHI"]],[217563,"Neonatal acute respiratory distress syndrome due to SP-B deficiency",["Neonatal acute respiratory distress due to surfactant protein B deficiency"]],[217566,"Chronic respiratory distress with surfactant metabolism deficiency"],[217569,"Rare hypertrophic cardiomyopathy"],[217572,"Glycogen storage disease with hypertrophic cardiomyopathy",["GSD with hypertrophic cardiomyopathy","Glycogenosis with hypertrophic cardiomyopathy"]],[217581,"Lysosomal disease with hypertrophic cardiomyopathy"],[217587,"Mitochondrial disease with hypertrophic cardiomyopathy"],[217591,"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy"],[217595,"Syndrome associated with hypertrophic cardiomyopathy"],[217598,"Non-familial hypertrophic cardiomyopathy"],[217601,"OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training"],[217604,"Dilated cardiomyopathy"],[217607,"Familial dilated cardiomyopathy"],[217610,"Neuromuscular disease with dilated cardiomyopathy"],[217613,"Mitochondrial disease with dilated cardiomyopathy"],[217616,"Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy"],[217619,"Syndrome associated with dilated cardiomyopathy"],[217622,"Sensorineural deafness with dilated cardiomyopathy",["Neurosensory deafness with dilated cardiomyopathy","Neurosensory hearing loss with dilated cardiomyopathy","Sensorineural hearing loss with dilated cardiomyopathy"]],[217629,"Non-familial dilated cardiomyopathy"],[217632,"Restrictive cardiomyopathy"],[217635,"Familial restrictive cardiomyopathy"],[217638,"Lysosomal disease with restrictive cardiomyopathy"],[217656,"Inherited isolated arrhythmogenic cardiomyopathy"],[217678,"Unclassified cardiomyopathy"],[217720,"Non-familial restrictive cardiomyopathy"],[218432,"OBSOLETE: Familial restrictive cardiomyopathy type 3",["OBSOLETE: RCM3"]],[218436,"Rare cardiac rhythm disease"],[218439,"Non-genetic cardiac rhythm disease"],[220295,"Xeroderma pigmentosum-Cockayne syndrome complex",["XP/CS complex"]],[220386,"Semilobar holoprosencephaly"],[220393,"Diffuse cutaneous systemic sclerosis",["Diffuse cutaneous systemic scleroderma","Progressive cutaneous systemic scleroderma","Progressive cutaneous systemic sclerosis"]],[220402,"Limited cutaneous systemic sclerosis",["Limited cutaneous systemic scleroderma"]],[220407,"Limited systemic sclerosis",["Systemic sclerosis sine scleroderma"]],[220436,"Quebec platelet disorder",["Factor V Quebec"]],[220443,"OBSOLETE: Bleeding diathesis due to thromboxane synthesis deficiency"],[220448,"Macrothrombocytopenia with mitral valve insufficiency"],[220452,"Isolated hereditary giant platelet disorder",["Isolated hereditary macrothrombocytopenia","Isolated inherited giant platelet disorder","Isolated inherited macrothrombocytopenia"]],[220460,"Attenuated familial adenomatous polyposis",["AFAP","APC-related AFAP","APC-related attenuated FAP","APC-related attenuated familial polyposis coli","Attenuated FAP","Attenuated familial polyposis coli"]],[220465,"Laron syndrome with immunodeficiency",["Laron-like syndrome","Short stature due to STAT5b deficiency"]],[220489,"Rare hereditary hemochromatosis",["Iron overload disease"]],[220493,"Joubert syndrome with ocular anomaly"],[220497,"Joubert syndrome with renal defect",["JS-R"]],[221008,"Rothmund-Thomson syndrome type 1",["Poikiloderma of Rothmund-Thomson type 1","RTS1"]],[221016,"Rothmund-Thomson syndrome type 2",["RTS2","Poikiloderma of Rothmund-Thomson type 2"]],[221039,"Hereditary sclerosing poikiloderma, Weary type"],[221043,"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome",["POIKTMP syndrome"]],[221046,"Poikiloderma with neutropenia",["Poikiloderma with neutropenia, Clericuzio type"]],[221054,"Acrocephalopolydactyly",["Acrocephalopolydactylous dysplasia","Elejalde acrocephalopolydactyly"]],[221061,"Familial cerebral cavernous malformation",["Familial brain cavernous angioma","Familial cerebral cavernoma","Hereditary brain cavernous angioma","Hereditary cerebral cavernoma","Hereditary cerebral cavernous malformation"]],[221074,"Marchiafava-Bignami disease",["MBD"]],[221078,"Combined hyperactive dysfunction syndrome of the cranial nerves"],[221083,"Hemifacial spasm",["Facial hemispasm","Focal myoclonus of face"]],[221091,"Trigeminal neuralgia"],[221098,"Glossopharyngeal neuralgia"],[221106,"OBSOLETE: Isolated facial myokymia"],[221109,"Cranial neuralgia",["Facial neuralgia"]],[221114,"Acquired peripheral movement disorder"],[221117,"Gerstmann syndrome"],[221120,"Pseudoaminopterin syndrome",["ASSA","Aminopterin syndrome-like sine aminopterin"]],[221126,"Fowler vasculopathy",["Cerebral proliferative glomeruloid vasculopathy","Encephaloclastic proliferative vasculopathy","Hydrocephaly/hydranencephaly due to cerebral vasculopathy","Proliferative vasculopathy and hydranencephaly/hydrocephaly"]],[221139,"Combined immunodeficiency with facio-oculo-skeletal anomalies",["Roifman-Chitayat syndrome"]],[221142,"Confetti-like macular atrophy"],[221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",["ARCL1C","Autosomal recessive cutis laxa type 1C","Urban-Rifkin-Davis syndrome"]],[221150,"OBSOLETE: Pitt-Hopkins-like syndrome"],[222628,"Hereditary poikiloderma"],[223713,"Mitochondrial oxidative phosphorylation disorder",["OXPHOS disease"]],[223727,"Bone sarcoma"],[223735,"Lymphoma"],[225123,"TFR2-related hemochromatosis",["Hereditary hemochromatosis type 3"]],[225147,"Sporadic infantile bilateral striatal necrosis",["ABSN","Acute bilateral striatal necrosis","Sporadic IBSN","Sporadic infantile striatonigral degeneration","Sporadic infantile striatonigral necrosis"]],[225154,"Familial infantile bilateral striatal necrosis",["Familial IBSN","Familial infantile striatonigral degeneration","Familial infantile striatonigral necrosis"]],[225681,"Lysosomal disease with epilepsy"],[225686,"Peroxisomal disease with epilepsy"],[225689,"Amino acid or protein metabolism disease with epilepsy"],[225692,"Metal transport or utilization disorder with epilepsy"],[225696,"Energy metabolism disorder with epilepsy"],[225700,"Mitochondrial disease with epilepsy"],[225703,"Mitochondrial disease with peripheral neuropathy"],[225707,"Metabolic neurotransmission anomaly with epilepsy"],[225710,"Sterol metabolism disorder with epilepsy"],[225713,"Other metabolic disease with epilepsy"],[225968,"OBSOLETE: Inherited predisposition to essential thrombocythemia",["OBSOLETE: Familial essential thrombocythemia"]],[226292,"Permanent congenital hypothyroidism"],[226295,"Primary congenital hypothyroidism"],[226298,"Central congenital hypothyroidism",["Secondary hypothyroidism"]],[226307,"Hypothyroidism due to deficient transcription factors involved in pituitary development or function"],[226310,"OBSOLETE: Peripheral hypothyroidism"],[226313,"Congenital hypothyroidism due to maternal intake of antithyroid drugs"],[226316,"Genetic transient congenital hypothyroidism"],[227510,"Multiple system atrophy, cerebellar type",["Sporadic OPCA type 1","Sporadic olivopontocerebellar atrophy type 1","MSA, cerebellar type","MSA-c"]],[227535,"NON RARE IN EUROPE: Hereditary breast cancer",["NON RARE IN EUROPE: Familial breast cancer","NON RARE IN EUROPE: Familial breast carcinoma","NON RARE IN EUROPE: Hereditary breast carcinoma"]],[227786,"OBSOLETE: Familial flecked retinopathy",["OBSOLETE: Hereditary flecked retinopathy"]],[227796,"Fundus albipunctatus"],[227972,"Toxic oil syndrome"],[227976,"Autosomal recessive optic atrophy, OPA7 type"],[227982,"Autoimmune polyendocrinopathy type 3",["APS type 3","APS3","Autoimmune polyendocrine syndrome type 3","Autoimmune polyglandular syndrome type 3"]],[227990,"Autoimmune polyendocrinopathy type 4",["APS type 4","APS4","Autoimmune polyendocrine syndrome type 4","Autoimmune polyglandular syndrome type 4"]],[228000,"Idiopathic CD4 lymphocytopenia"],[228003,"T-B+NK+ severe combined immunodeficiency due to CORO1A deficiency",["T-B+NK+ SCID due to CORO1A deficiency","T-B+NK+ SCID due to coronin-1A deficiency","T-B+NK+ severe combined immunodeficiency due to coronin-1A deficiency"]],[228012,"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome",["Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome","Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome","Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome"]],[228113,"Anal fistula"],[228116,"Hughes-Stovin syndrome"],[228119,"Fusariosis",["Fusarium infection"]],[228123,"Coccidioidomycosis",["Desert rheumatism","San Joaquin valley fever","Valley fever","California disease","Coccidioides infection","Desert fever"]],[228140,"Idiopathic ventricular fibrillation"],[228145,"Multiple sclerosis variant"],[228157,"Marburg acute multiple sclerosis",["Acute multiple sclerosis, Marburg type","Acute multiple sclerosis, Marburg variant"]],[228165,"Baló concentric sclerosis",["Concentric demyelination"]],[228169,"Autosomal dominant striatal neurodegeneration",["ADSD"]],[228174,"Autosomal dominant Charcot-Marie-Tooth disease type 2N",["CMT2N"]],[228179,"Autosomal dominant Charcot-Marie-Tooth disease type 2M",["CMT2M"]],[228184,"Heart-hand syndrome",["Atriodigital dysplasia"]],[228190,"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome",["Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome"]],[228215,"Genetic dermis elastic tissue disorder"],[228218,"Acquired dermis elastic tissue disorder"],[228221,"Acquired dermis elastic tissue disorder with decreased elastic tissue"],[228224,"Acquired dermis elastic tissue disorder with increased elastic tissue"],[228227,"Late-onset focal dermal elastosis",["PXE-like late-onset focal dermal elastosis","Pseudoxanthoma-like late-onset focal dermal elastosis"]],[228236,"Linear focal elastosis",["Elastotic striae","Linear focal dermal elastosis"]],[228240,"Elastoderma"],[228243,"Elastofibroma dorsi"],[228247,"Acquired pseudoxanthoma elasticum",["Acquired Gronblad-Strandberg-Touraine syndrome","Acquired PXE"]],[228254,"Elastoma",["Juvenile elastoma without osteopoikilosis","Nevus elasticus","Weidman juvenile elastoma"]],[228264,"Papular elastorrhexis"],[228272,"Primary anetoderma",["Primary macular atrophy"]],[228277,"Familial anetoderma",["Hereditary anetoderma","Hereditary macular atrophy"]],[228285,"Acquired cutis laxa",["Cutis laxa acquisita"]],[228290,"White fibrous papulosis of the neck"],[228293,"Pseudoxanthoma elasticum-like papillary dermal elastolysis",["PXE-like papillary dermal elastolysis"]],[228299,"Mid-dermal elastolysis"],[228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",["Carnitine palmitoyl transferase II deficiency, adult-onset form","Carnitine palmitoyl transferase deficiency type 2, adult-onset form","Carnitine palmitoyl transferase deficiency type 2, myopathic form","CPT2, adult-onset form","CPT2, myopathic form","CPTII, adult-onset form","CPTII, myopathic form"]],[228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",["CPTII, severe infantile form","Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form","Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form","Carnitine palmitoyl transferase deficiency type 2, severe infantile form","CPT2, hepatocardiomuscular form","CPT2, severe infantile form","CPTII, hepatocardiomuscular form"]],[228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",["CPT2, lethal systemic form","CPT2, neonatal form","CPTII, lethal systemic form","CPTII, neonatal form","Carnitine palmitoyl transferase II deficiency, lethal systemic form","Carnitine palmitoyl transferase deficiency type 2, lethal systemic form","Carnitine palmitoyl transferase deficiency type 2, neonatal form"]],[228312,"Autoimmune hemolytic anemia, cold type",["cAHA","cAIHA","Cold AIHA"]],[228315,"OBSOLETE: Idiopathic hypersomnia with long sleep time"],[228318,"OBSOLETE: Idiopathic hypersomnia without long sleep time"],[228329,"CLN1 disease",["Neuronal ceroid lipofuscinosis type 1","NCL1"]],[228337,"CLN10 disease",["NCL10","Neuronal ceroid lipofuscinosis type 10"]],[228340,"OBSOLETE: CLN4A disease"],[228343,"CLN4 disease",["NCL4","Neuronal ceroid lipofuscinosis type 4"]],[228346,"CLN3 disease",["Neuronal ceroid lipofuscinosis type 3"]],[228349,"CLN2 disease",["NCL2","Neuronal ceroid lipofuscinosis type 2"]],[228354,"CLN8 disease",["NCL8","Neuronal ceroid lipofuscinosis type 8"]],[228357,"OBSOLETE: CLN9 disease"],[228360,"CLN5 disease",["NCL5","Neuronal ceroid lipofuscinosis type 5"]],[228363,"CLN6 disease",["NCL6","Neuronal ceroid lipofuscinosis type 6"]],[228366,"CLN7 disease",["NCL7","Neuronal ceroid lipofuscinosis type 7"]],[228371,"Foodborne botulism",["Intoxication botulism"]],[228374,"Charcot-Marie-Tooth disease type 2B5",["Autosomal recessive Charcot-Marie-Tooth disease type 2B5","SEOAN due to NEFL deficiency","Severe early-onset axonal neuropathy due to NEFL deficiency","Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency","AR-CMT2B5"]],[228379,"Virus-associated trichodysplasia spinulosa",["Cyclosporine-induced folliculodystrophy","Pilomatrix dysplasia","TS","Trichodysplasia spinulosa","VATS"]],[228384,"5q14.3 microdeletion syndrome",["Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion","Del(5)(q14.3)","Monosomy 5q14.3"]],[228387,"Spondylo-megaepiphyseal-metaphyseal dysplasia"],[228390,"Frontonasal dysplasia-alopecia-genital anomalies syndrome",["ALX4-related FNDAG","Craniofrontonasal dysplasia with alopecia and hypogonadism","Frontonasal dysplasia type 2","Frontonasal dysplasia with alopecia and genital abnomality"]],[228396,"Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"],[228399,"8q12 microduplication syndrome",["Dup(8)(q12)","Trisomy 8q12"]],[228402,"2q23.1 microdeletion syndrome",["Del(2)(q23.1)","Monosomy 2q23.1","Pseudo-Angelman syndrome"]],[228407,"Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome",["TMCO1 defect syndrome"]],[228410,"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome",["PHD syndrome","Polyvalvular heart disease syndrome","TAB2-related syndrome"]],[228415,"5q35 microduplication syndrome",["Dup(5)(q35)","Trisomy 5q35"]],[228418,"OBSOLETE: Microcephaly-seizures-developmental delay syndrome",["OBSOLETE: MCSZ"]],[228423,"GATA2 deficiency spectrum",["GATA binding protein 2 deficiency spectrum"]],[228426,"Syndromic multisystem autoimmune disease due to Itch deficiency"],[228429,"Congenital generalized lipodystrophy type 4",["BSCL type 4","Berardinelli-Seip syndrome type 4, BSCL type 4","GCL4"]],[229717,"Non-syndromic agammaglobulinemia",["Non-syndromic hypogammaglobulinemia"]],[229720,"Syndromic agammaglobulinemia"],[230800,"Toxin-mediated infectious botulism",["Toxin-mediated infective botulism"]],[230839,"Classical-like Ehlers-Danlos syndrome type 1",["Classical-like EDS type 1","Ehlers-Danlos syndrome due to tenascin-X deficiency","clEDS type 1"]],[230845,"Vascular-like classical Ehlers-Danlos syndrome",["COL1A1-cEDS","Classic EDS-like with a propensity for arterial rupture","Classical EDS due to COL1A1 p.(Arg312Cys)","Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)","Vascular-like classical EDS"]],[230851,"Cardiac-valvular Ehlers-Danlos syndrome",["Cardiac-valvular EDS","cvEDS"]],[230857,"Ehlers-Danlos/osteogenesis imperfecta syndrome",["EDS/OI syndrome"]],[231013,"Congenital trigeminal anesthesia"],[231031,"Erythema palmare hereditarium",["Lane disease","Red palms disease"]],[231040,"Familial generalized lentiginosis",["Familial lentigines profusa","Familial multiple lentigines syndrome without systemic involvement"]],[231080,"High-grade dysplasia in patients with Barrett esophagus"],[231108,"Rhabdoid tumor predisposition syndrome",["RTPS"]],[231111,"Drug-induced lupus erythematosus",["DILE"]],[231117,"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"],[231120,"Beckwith-Wiedemann syndrome due to CDKN1C mutation"],[231127,"Beckwith-Wiedemann syndrome due to 11p15 microdeletion"],[231130,"Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"],[231137,"Silver-Russell syndrome due to 7p11.2p13 microduplication",["Silver-Russell syndrome due to 7p11.2-p13 microduplication","Silver-Russell syndrome due to dup(7)(p11.2p13)","Silver-Russell syndrome due to trisomy 7p11.2-p13","Silver-Russell syndrome due to trisomy 7p11.2p13"]],[231140,"Silver-Russell syndrome due to an imprinting defect of 11p15"],[231144,"Silver-Russell syndrome due to 11p15 microduplication"],[231147,"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11",["UPD(11)mat"]],[231154,"Atypical/leaky severe combined immunodeficiency due to partial RAG defect",["Atypical/leaky SCID due to partial RAG defect","Atypical/leaky severe combined immunodeficiency due to partial recombination activating gene defect"]],[231160,"Familial cerebral saccular aneurysm",["Familial berry aneurysm","Familial intracranial saccular aneurysm"]],[231169,"Usher syndrome type 1",["USH1"]],[231178,"Usher syndrome type 2",["USH2"]],[231183,"Usher syndrome type 3",["USH3"]],[231205,"Common variable immunodeficiency without known genetic defect",["CVID without known genetic defect"]],[231214,"Beta-thalassemia major",["Beta transfusion dependent thalassemia","Beta-TDT","Cooley anemia","Mediterranean anemia"]],[231222,"Beta-thalassemia intermedia",["Beta-NTDT","Non-transfusion dependent beta-thalassemia"]],[231226,"Unstable beta globin chain variant disease",["Autosomal dominant beta-thalassemia","Inclusion body beta-thalassemia"]],[231230,"Beta-thalassemia associated with another hemoglobin anomaly",["Beta-thalassemia associated with another Hb anomaly"]],[231237,"Delta-beta-thalassemia"],[231242,"Hemoglobin C-beta-thalassemia syndrome",["C-beta-thalassemia","HbC-beta-thalassemia syndrome"]],[231249,"Hemoglobin E-beta-thalassemia syndrome",["E-beta-thalassemia","HbE-beta-thalassemia syndrome"]],[231256,"Beta-thalassemia-trichothiodystrophy syndrome"],[231386,"Syndromic beta-thalassemia"],[231393,"Beta-thalassemia-X-linked thrombocytopenia syndrome",["XLTT"]],[231401,"Alpha-thalassemia-myelodysplastic syndrome",["ATMDS","Acquired HbH disease","Acquired hemoglobin H disease"]],[231413,"Variant of Guillain-Barré syndrome",["Variant of GBS"]],[231416,"Regional variant of Guillain-Barré syndrome",["Regional variant of GBS"]],[231419,"Functional variant of Guillain-Barré syndrome",["Functional variant of GBS"]],[231426,"Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome",["PCB variant of GBS","PCB variant of Guillain-Barré syndrome","Pharyngeal-cervical-brachial weakness","Pharyngo-cervico-brachial variant of GBS","Pharyngo-cervico-brachial variant of Guillain-Barré syndrome"]],[231445,"Paraparetic variant of Guillain-Barré syndrome",["Paraparetic variant of GBS"]],[231450,"Acute pure sensory neuropathy",["Acute pure sensory GBS","Acute pure sensory Guillain-Barré syndrome"]],[231457,"Acute pandysautonomia",["Acute panautonomic Guillain-Barré syndrome","Acute panautonomic neuropathy","Acute panautonomic GBS"]],[231466,"Acute sensory ataxic neuropathy",["ASAN","Acute sensory ataxic GBS","Acute sensory ataxic Guillain-Barré syndrome"]],[231500,"Hermansky-Pudlak syndrome due to BLOC-3 deficiency",["HPS with pulmonary fibrosis","Hermansky-Pudlak syndrome with pulmonary fibrosis"]],[231512,"Hermansky-Pudlak syndrome due to BLOC-2 deficiency",["HPS without pulmonary fibrosis","Hermansky-Pudlak syndrome without pulmonary fibrosis"]],[231531,"Hermansky-Pudlak syndrome due to BLOC-1 deficiency"],[231537,"Hermansky-Pudlak syndrome type 8",["HPS8"]],[231556,"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome",["Late-onset localized JEB-intellectual disability syndrome"]],[231568,"Autosomal dominant generalized dystrophic epidermolysis bullosa",["Generalized DDEB"]],[231573,"Congenital erosive and vesicular dermatosis",["CEVD","Congenital erosive and vesicular dermatosis with reticulated supple scarring"]],[231580,"Primary unilateral adrenal hyperplasia",["PUAH"]],[231625,"Adrenocortical carcinoma with pure aldosterone hypersecretion",["Pure APAC","Pure aldosterone-producing adrenocortical carcinoma","Pure aldosterone-secreting adrenocortical carcinoma"]],[231632,"Ectopic aldosterone-producing tumor",["Extra-adrenal aldosterone-producing tumor"]],[231637,"Rare surgically correctable form of primary aldosteronism"],[231641,"Rare non surgically correctable form of primary aldosteronism"],[231662,"Isolated growth hormone deficiency type IA",["Congenital IGHD type IA","Congenital isolated GH deficiency type IA","Congenital isolated growth hormone deficiency type IA"]],[231671,"Isolated growth hormone deficiency type IB",["Congenital IGHD type IB","Congenital isolated GH deficiency type IB","Congenital isolated growth hormone deficiency type IB"]],[231679,"Isolated growth hormone deficiency type II",["Congenital IGHD type II","Congenital isolated GH deficiency type II","Congenital isolated growth hormone deficiency type II"]],[231692,"Isolated growth hormone deficiency type III",["Congenital IGHD type III","Congenital isolated GH deficiency type III","Congenital isolated growth hormone deficiency type III","X-linked IGHD","X-linked isolated growth hormone deficiency"]],[231720,"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome",["Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome"]],[231736,"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome",["MPPC syndrome"]],[231742,"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome"],[232035,"Infectious embryofetopathy"],[232288,"Syndrome with alpha-thalassemia as a major feature"],[233655,"Rare genetic vascular disease"],[235832,"Congenital vascular bone syndrome"],[235835,"OBSOLETE: Congenital vascular bone syndrome with limb overgrowth"],[235838,"OBSOLETE: Congenital vascular bone syndrome with limb shortening"],[235936,"Familial hyperaldosteronism",["FH"]],[238269,"AApoAII amyloidosis",["Apolipoprotein A-II amyloidosis","Familial amyloid nephropathy due to apolipoprotein A-II variant","Familial renal amyloidosis due to apolipoprotein A-II variant","Hereditary amyloid nephropathy due to apolipoprotein A-II variant","Hereditary renal amyloidosis due to apolipoprotein A-II variant"]],[238305,"Infundibulo-neurohypophysitis"],[238329,"Severe X-linked mitochondrial encephalomyopathy",["Mitochondrial encephalomyopathy due to COXPD6","Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6"]],[238446,"15q11q13 microduplication syndrome",["15q11q13 duplication syndrome","Dup(15)(q11q13)","Trisomy 15q11q13"]],[238455,"Infantile dystonia-parkinsonism",["DTDS","Dopamine transporter deficiency syndrome","IPD","PKDYS"]],[238459,"SLC35A1-CDG",["CMP-sialic acid transporter deficiency","Carbohydrate deficient glycoprotein syndrome type IIf","Congenital disorder of glycosylation type 2f","Congenital disorder of glycosylation type IIf","CDG syndrome type IIf","CDG-IIf","CDG2F"]],[238468,"Hypohidrotic ectodermal dysplasia",["HED"]],[238475,"Familial hypercholanemia",["Hereditary hypercholanemia"]],[238505,"Combined immunodeficiency due to CD27 deficiency",["Autosomal recessive lymphoproliferative disease due to CD27 deficiency","CD27 deficiency"]],[238510,"OBSOLETE: Lymphoproliferative syndrome"],[238517,"Hypotonia-cystinuria type 1 syndrome"],[238523,"Atypical hypotonia-cystinuria syndrome",["Atypical HCS"]],[238536,"Congenital secondary erythrocytosis",["Congenital secondary polycythemia"]],[238547,"OBSOLETE: Acquired secondary polycythemia",["OBSOLETE: Acquired secondary erythrocytosis"]],[238557,"Chuvash erythrocytosis",["VHL-related polycythemia","Von Hippel-Lindau-related erythrocytosis","VHL-related erythrocytosis","Chuvash polycythemia","Von Hippel-Lindau-related polycythemia"]],[238569,"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome",["IL10-related early-onset IBD","IL10-related early-onset inflammatory bowel disease"]],[238578,"Familial clubfoot due to 17q23.1q23.2 microduplication",["Hereditary clubfoot due to 17q23.1-q23.2 microduplication"]],[238583,"Hyperphenylalaninemia due to tetrahydrobiopterin deficiency",["Hyperphenylalaninemia due to BH4 deficiency"]],[238593,"IgG4-related mesenteritis",["Isolated mesenteric lipodystrophy","Lipomatous mesenteritis","Liposclerotic mesenteritis","Mesenteric lipogranuloma","Mesenteric panniculitis","Sclerosing mesenteritis"]],[238606,"Primary orthostatic tremor",["POT"]],[238613,"OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation"],[238616,"NON RARE IN EUROPE: Alzheimer disease"],[238621,"Ileal pouch anal anastomosis related faecal incontinence"],[238624,"Idiopathic intracranial hypertension",["Benign intracranial hypertension","IIH","Pseudotumor cerebri"]],[238637,"Megacystis-megaureter syndrome",["Megaureter-megacystis syndrome"]],[238642,"Primary megaureter, adult-onset form"],[238646,"Congenital primary megaureter, obstructed form"],[238650,"Congenital primary megaureter, refluxing form"],[238654,"Congenital primary megaureter, nonrefluxing and unobstructed form"],[238666,"Isolated congenital hypogonadotropic hypogonadism",["Gonadotropic deficiency","Isolated congenital gonadotropin deficiency","Isolated gonadotropin-releasing hormone deficiency"]],[238670,"Isolated thyrotropin-releasing hormone deficiency",["Isolated TRF deficiency","Isolated TRH deficiency","Isolated TSH-releasing factor deficiency","Isolated prothyroliberin deficiency","Isolated protirelin deficiency","Isolated thyroliberin deficiency","Isolated thyrotropin-releasing factor deficiency"]],[238688,"Neonatal iodine exposure"],[238691,"OBSOLETE: Congenital liver hemangioma",["OBSOLETE: Congenital hepatic hemangioma"]],[238696,"Transient congenital hypothyroidism due to maternal factor"],[238699,"Transient congenital hypothyroidism due to neonatal factor"],[238722,"Familial congenital mirror movements",["Familial congenital controlateral synkinesia","Hereditary congenital controlateral synkinesia","Hereditary congenital mirror movements","Isolated congenital controlateral synkinesia","Isolated congenital mirror movements"]],[238744,"Mammary-digital-nail syndrome",["MDN syndrome","Onycho-digito-mammary syndrome"]],[238750,"4q21 microdeletion syndrome",["Del(4)(q21)","Monosomy 4q21"]],[238755,"OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H",["OBSOLETE: LGMD1H"]],[238763,"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea",["Megalocornea-spherophakia-secondary glaucoma syndrome"]],[238766,"Ptosis-syndactyly-learning difficulties syndrome"],[238769,"1q44 microdeletion syndrome",["Del(1)(q44)","Monosomy 1q44"]],[240071,"Classic progressive supranuclear palsy syndrome",["Classic PSP syndrome","Richardson syndrome","Steele-Richardson-Olszewski disease"]],[240085,"Progressive supranuclear palsy-predominant parkinsonism syndrome",["PSP-p","PSP-parkinsonism"]],[240094,"Progressive supranuclear palsy-pure akinesia with gait freezing syndrome",["PSP-PAGF","PSP-pure akinesia with gait freezing"]],[240103,"Progressive supranuclear palsy-corticobasal syndrome",["PSP-CBS","PSP-corticobasal syndrome"]],[240112,"Progressive supranuclear palsy-progressive non-fluent aphasia syndrome",["PSP-AOS","PSP-PNFA","Progressive supranuclear palsy-apraxia of speech syndrome"]],[240266,"OBSOLETE: Systemic non-Langerhans cell histiocytosis"],[240371,"Syndromic obesity"],[240760,"Nijmegen breakage syndrome-like disorder",["Microcephaly and chromosomal instability without immunodeficiency","NBS-like disorder","NBSLD","RAD50 deficiency"]],[243343,"Dimethylglycine dehydrogenase deficiency",["DMG dehydrogenase deficiency","DMGDH deficiency"]],[243367,"Acute fatty liver of pregnancy",["AFLP"]],[243377,"NON RARE IN EUROPE: Diabetes mellitus type 1",["NON RARE IN EUROPE: Insulin-dependent diabetes mellitus"]],[243761,"NON RARE IN EUROPE: Essential hypertension"],[244242,"HELLP syndrome",["Hemolysis, elevated liver enzymes, low platelets in pregnancy","Hemolysis-elevated liver enzymes-low platelets syndrome"]],[244275,"De novo thrombotic microangiopathy after kidney transplantation"],[244283,"Biliary atresia with splenic malformation syndrome",["BASM syndrome"]],[244305,"Dominant hypophosphatemia with nephrolithiasis or osteoporosis"],[244310,"RFT1-CDG",["CDG syndrome type In","CDG-In","CDG1N","Carbohydrate deficient glycoprotein syndrome type In","Congenital disorder of glycosylation type 1n","Congenital disorder of glycosylation type In","Man5GlcNAc2-PP-Dol flippase deficiency"]],[247165,"Infantile mercury poisoning",["Erythroedema polyneuritis","Feer disease","Infantile acrodynia","Infantile mercury intoxication","Pink disease","Swift disease","Swift-Feer disease"]],[247198,"Progressive cerebello-cerebral atrophy",["PCCA"]],[247203,"Collecting duct carcinoma",["BDC","Bellini carcinoma","Bellini duct carcinoma","CDC"]],[247234,"Sporadic adult-onset ataxia of unknown etiology",["Idiopathic late-onset cerebellar ataxia","SAOA"]],[247239,"Non-hereditary degenerative ataxia"],[247242,"Acquired ataxia"],[247245,"Superficial siderosis",["Hemosiderosis of the central nervous system","Superficial hemosiderosis of the CNS","Superficial hemosiderosis of the central nervous system","Superficial siderosis of the CNS","Superficial siderosis of the central nervous system"]],[247257,"Inhalational anthrax",["Inhalation anthrax disease","Pulmonary anthrax","Respiratory anthrax","Respiratory anthrax disease"]],[247262,"Hyperphosphatasia-intellectual disability syndrome",["Mabry syndrome"]],[247353,"Generalized pustular psoriasis",["GPP"]],[247378,"Autosomal recessive secondary erythrocytosis not associated with VHL gene",["Autosomal recessive secondary erythrocytosis, non-Chuvash type","Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene","Autosomal recessive secondary polycythemia, non-Chuvash type","Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene","Autosomal recessive secondary polycythemia not associated with VHL gene"]],[247511,"Autosomal dominant secondary erythrocytosis",["Autosomal dominant secondary polycythemia"]],[247522,"Primary ciliary dyskinesia-retinitis pigmentosa syndrome"],[247525,"Citrullinemia type I",["ASS deficiency","Argininosuccinate synthase deficiency","Argininosuccinate synthetase deficiency","Argininosuccinic acid synthase deficiency","Argininosuccinic acid synthetase deficiency","CTLN1","Citrullinemia type 1","Classic citrullinemia"]],[247546,"Acute neonatal citrullinemia type I",["Acute neonatal citrullinemia type 1","Early-onset citrullinemia type 1","Early-onset citrullinemia type I"]],[247573,"Late-onset citrullinemia type I",["Late-onset citrullinemia type 1"]],[247582,"Citrin deficiency"],[247585,"Citrullinemia type II",["Adult-onset citrin deficiency","Adult-onset citrullinemia type 2","Adult-onset citrullinemia type II","CTLN2","Citrullinemia type 2"]],[247598,"Neonatal intrahepatic cholestasis due to citrin deficiency",["NICCD","Neonatal intrahepatic cholestasis caused by citrin deficiency"]],[247604,"Juvenile primary lateral sclerosis",["JPLS","Juvenile PLS"]],[247623,"Perinatal lethal hypophosphatasia",["Perinatal lethal Rathbun disease","Perinatal lethal phosphoethanolaminuria"]],[247638,"Prenatal benign hypophosphatasia",["Prenatal benign Rathbun disease","Prenatal benign phosphoethanolaminuria"]],[247651,"Infantile hypophosphatasia",["Infantile Rathbun disease","Infantile phosphoethanolaminuria"]],[247667,"Childhood-onset hypophosphatasia",["Childhood-onset Rathbun disease","Childhood-onset phosphoethanolaminuria"]],[247676,"Adult hypophosphatasia",["Adult Rathbun disease","Adult phosphoethanolaminuria"]],[247685,"Odontohypophosphatasia"],[247691,"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations",["RVCL","RVCL-S","Retinal vasculopathy and cerebral leukoencephalopathy"]],[247698,"Multiple endocrine neoplasia type 2A",["MEN2A","PTC syndrome","Sipple syndrome"]],[247709,"Multiple endocrine neoplasia type 2B",["MEN2B","Multiple endocrine neoplasia type 3","Wagenmann-Froboese syndrome"]],[247718,"Inflammatory myopathy with abundant macrophages",["IMAM"]],[247724,"Idiopathic eosinophilic myositis",["Idiopathic eosinophilia-associated myopathy"]],[247762,"Lipoblastoma"],[247765,"X-linked cerebellar ataxia"],[247768,"Müllerian aplasia and hyperandrogenism",["Müllerian duct failure and hyperandrogenism","WNT4 deficiency"]],[247775,"Mayer-Rokitansky-Küster-Hauser syndrome type 1",["Congenital absence of uterus and vagina","MRKH syndrome type 1","Rokitansky sequence"]],[247790,"FTH1-related iron overload",["FTH1-associated iron overload"]],[247794,"Juvenile cataract-microcornea-renal glucosuria syndrome",["Juvenile cataract-microcornea-renal glycosuria syndrome"]],[247798,"MUTYH-related polyposis",["MUTYH-related adenomatous polyposis"]],[247806,"OBSOLETE: APC-related attenuated familial adenomatous polyposis"],[247815,"Autosomal recessive ataxia due to PEX10 deficiency",["Mild peroxisomal disorder due to PEX10 deficiency"]],[247820,"Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome"],[247827,"Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome"],[247834,"Occult macular dystrophy",["Miyake disease","OCMD","OMD"]],[247839,"OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies",["OBSOLETE: Oligoarticular JIA with anti-nuclear antibodies","OBSOLETE: Pauciarticular chronic arthritis with anti-nuclear antibodies"]],[247846,"OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies",["OBSOLETE: Oligoarticular JIA without anti-nuclear antibodies","OBSOLETE: Pauciarticular chronic arthritis without anti-nuclear antibodies"]],[247854,"OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies",["OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies","OBSOLETE: Polyarthritis without rheumatoid factor with anti-nuclear antibodies","OBSOLETE: Rheumatoid factor-negative JIA with anti-nuclear antibodies"]],[247861,"OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies",["OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies","OBSOLETE: Polyarthritis without rheumatoid factor without anti-nuclear antibodies","OBSOLETE: Rheumatoid factor-negative JIA without anti-nuclear antibodies"]],[247868,"NLRP12-associated hereditary periodic fever syndrome",["FCAS2","Familial cold autoinflammatory syndrome type 2","NAPS12"]],[247871,"OBSOLETE: Vitiligo-associated autoimmune disease"],[248095,"Primary hypertrophic osteoarthropathy",["Idiopathic hypertrophic osteoarthropathy","PHO"]],[248111,"Juvenile Huntington disease",["JHD","Juvenile Huntington chorea"]],[248293,"Rare deficiency anemia"],[248296,"Constitutional deficiency anemia"],[248302,"Rare acquired deficiency anemia"],[248305,"OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency"],[248308,"Rare hemorrhagic disorder",["Rare bleeding disorder"]],[248315,"Rare hemorrhagic disorder due to a coagulation factors defect",["Rare bleeding disorder due to a coagulation factors defect","Rare coagulopathy due to a coagulation factor defect"]],[248326,"Rare hemorrhagic disorder due to a platelet anomaly",["Rare bleeding disorder due to a platelet anomaly","Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia","Rare coagulopathy due to a platelet anomaly","Rare coagulopathy due to a thrombopathy and/or thrombocytopenia","Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia"]],[248340,"Isolated delta-storage pool disease",["Isolated delta-SPD","Isolated dense-SPD","Isolated dense-storage pool disease"]],[248347,"Rare hemorrhagic disorder due to an acquired platelet anomaly",["Rare bleeding disorder due to an acquired platelet anomaly","Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia","Rare coagulopathy due to an acquired platelet anomaly","Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia","Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia"]],[248358,"Rare thrombotic disorder due to a coagulation factors defect"],[248361,"Rare thrombotic disorder due to a constitutional coagulation factors defect"],[248365,"Rare thrombotic disorder due to an acquired coagulation factors defect"],[248368,"Rare thrombotic disorder due to a platelet anomaly"],[248401,"Rare thrombotic disorder due to a constitutional platelet anomaly"],[248404,"Rare thrombotic disorder due to an acquired platelet anomaly"],[248408,"Familial hypodysfibrinogenemia"],[250165,"Genetic polycythemia"],[250805,"Serpinopathy"],[250808,"Serpinopathy with toxic serpin polymerization"],[250811,"Serpinopathy with loss of serpin function"],[250831,"Logopenic progressive aphasia",["LPA","Logopenic primary progressive aphasia","Logopenic variant PPA"]],[250908,"Rare neoplastic disease",["Rare tumoral disease"]],[250923,"Isolated aniridia"],[250932,"Autosomal dominant optic atrophy and peripheral neuropathy"],[250972,"Polymicrogyria with optic nerve hypoplasia"],[250977,"AICA-ribosiduria",["5-amino-4-imidazole carboxamide ribosiduria","AICA-ribosiduria due to ATIC deficiency","AICAR transformylase/IMP cyclohydrolase deficiency","ATIC deficiency"]],[250984,"Autosomal recessive Stickler syndrome"],[250989,"1q21.1 microdeletion syndrome",["Del(1)(q21)","Monosomy 1q21.1"]],[250994,"1q21.1 microduplication syndrome",["Dup(1)(q21.1)","Trisomy 1q21.1"]],[250999,"1q41q42 microdeletion syndrome",["Del(1)(q41q42)","Monosomy 1q41q42"]],[251004,"Paternal uniparental disomy of chromosome 1 syndrome",["UPD(1)pat"]],[251009,"Maternal uniparental disomy of chromosome 1 syndrome",["UPD(1)mat"]],[251014,"2q31.1 microdeletion syndrome",["Del(2)(q31.1)","Monosomy 2q31.1"]],[251019,"2q32q33 deletion syndrome",["Del(2)(q32q33)","Monosomy 2q32q33"]],[251028,"SATB2-associated syndrome due to a chromosomal rearrangement",["2q33.1 microdeletion syndrome","Del(2)(q33.1)","Monosomy 2q33.1"]],[251038,"3q29 microduplication syndrome",["Trisomy 3q29"]],[251043,"Ring chromosome 5 syndrome",["Ring 5","Ring chromosome 5"]],[251046,"6p22 microdeletion syndrome",["Del(6)(p22)","Monosomy 6p22"]],[251056,"6q25.2q25.3 microdeletion syndrome",["Del(6)(q25.2q25.3)","Monosomy 6q25.2q25.3"]],[251061,"7q31 microdeletion syndrome",["Del(7)(q31)","Monosomy 7q31"]],[251066,"8p11.2 deletion syndrome",["Del(8)(p11.2)","Monosomy 8p11.2"]],[251071,"8p23.1 microdeletion syndrome",["Del(8)(p23.1)","Monosomy 8p23.1"]],[251076,"8p23.1 duplication syndrome",["Dup(8)(p23.1p23.1)","Trisomy 8p23.1"]],[251262,"Familial osteochondritis dissecans",["Osteochondritis dissecans and short stature"]],[251274,"Familial hyperaldosteronism type III",["FH-III","FH3","Familial hyperaldosteronism type 3"]],[251279,"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",["Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"]],[251282,"Autosomal dominant spastic ataxia type 1",["SPAX1"]],[251287,"Benign concentric annular macular dystrophy"],[251290,"Parietal foramina with clavicular hypoplasia",["Parietal foramina with cleidocranial dysplasia"]],[251295,"Pigmented paravenous retinochoroidal atrophy",["PPRCA"]],[251304,"Infantile onset panniculitis with uveitis and systemic granulomatosis"],[251307,"Idiopathic recurrent pericarditis",["Idiopathic relapsing pericarditis"]],[251312,"Overlapping connective tissue disease"],[251316,"OBSOLETE: Unclassified overlapping connective tissue disease"],[251325,"Drug-induced vasculitis"],[251328,"Unclassified vasculitis"],[251332,"Unexplained long-lasting fever/inflammatory syndrome",["Persistent fever/inflammation of unknown origin"]],[251347,"Ataxia-telangiectasia-like disorder",["ATLD"]],[251355,"OBSOLETE: Sickle cell disease associated with another hemoglobin anomaly"],[251359,"Sickle cell-beta-thalassemia disease",["HbS-beta-thalassemia syndrome"]],[251365,"Sickle cell S-C disease",["HbSC disease","Hemoglobin S-C disease","Sickle cell-hemoglobin C disease"]],[251370,"Sickle cell S-D Punjab disease",["HbSD disease","Hemoglobin S-D Punjab disease","Sickle cell-hemoglobin D disease"]],[251375,"Sickle cell S-E disease",["HbSE disease","Hemoglobin S-E disease","Sickle cell-hemoglobin E disease"]],[251380,"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome",["HPFH-sickle cell disease syndrome"]],[251383,"CK syndrome",["X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"]],[251393,"Localized junctional epidermolysis bullosa",["JEB-nH loc","Junctional epidermolysis bullosa, non-Herlitz localized type","Localized JEB"]],[251510,"46,XY partial gonadal dysgenesis",["46,XY PGD","46,XY partial testicular dysgenesis"]],[251515,"Distal arthrogryposis type 10",["Short Achilles tendon","Short tendo calcaneus","DA10","Plantar flexion contracture"]],[251523,"Hyperzincemia and hypercalprotectinemia",["Hz/Hc","PAMI syndrome","PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome"]],[251529,"Toxic or drug-related embryofetopathy"],[251535,"Maternal disease-related embryofetopathy"],[251558,"Rare tumor of neuroepithelial tissue"],[251561,"High-grade astrocytoma"],[251576,"Gliosarcoma"],[251579,"Giant cell glioblastoma"],[251582,"Gliomatosis cerebri"],[251589,"Astrocytoma grade 3",["Anaplastic astrocytoma"]],[251592,"Low-grade astrocytoma"],[251595,"Astrocytoma grade 2",["Diffuse astrocytoma"]],[251598,"Protoplasmic astrocytoma"],[251601,"Fibrillary astrocytoma"],[251604,"Gemistocytic astrocytoma"],[251607,"Pleomorphic xanthoastrocytoma",["PXA"]],[251612,"Pilocytic astrocytoma"],[251615,"Pilomyxoid astrocytoma"],[251618,"Subependymal giant cell astrocytoma",["SEGA"]],[251623,"Pituicytoma"],[251627,"Oligodendroglioma grade 2",["Oligodendroglioma"]],[251630,"Oligodendroglioma grade 3",["Anaplastic oligodendroglioma"]],[251633,"OBSOLETE: Low-grade ependymoma"],[251636,"Ependymoma",["Classic ependymoma"]],[251639,"Subependymoma"],[251643,"Myxopapillary ependymoma"],[251646,"Anaplastic ependymoma"],[251651,"Oligoastrocytic tumor",["Mixed oligodendroglial and astrocytic tumor"]],[251656,"Oligoastrocytoma, dual genotype",["MOA","Mixed oligoastrocytoma","Oligoastrocytoma, dual genotype NEC","Oligoastrocytoma, dual genotype, not elsewhere classified"]],[251663,"Anaplastic oligoastrocytoma, dual genotype",["Anaplastic oligoastrocytoma, dual genotype NEC","Anaplastic oligoastrocytoma, dual genotype, not elsewhere classified","aMOA"]],[251668,"Glial tumor of neuroepithelial tissue with unknown origin"],[251671,"Angiocentric glioma"],[251674,"Chordoid glioma"],[251679,"Astroblastoma"],[251852,"Embryonal tumor of neuroepithelial tissue"],[251855,"Anaplastic/large cell medulloblastoma"],[251858,"Medulloblastoma with extensive nodularity",["MBEN"]],[251863,"Desmoplastic/nodular medulloblastoma"],[251867,"Classic medulloblastoma"],[251870,"Central nervous system embryonal tumor",["CNS PNET","Central nervous system primitive neuroectodermal tumor"]],[251877,"Ganglioneuroblastoma"],[251880,"Ependymoblastoma"],[251883,"Medulloepithelioma of the central nervous system"],[251891,"OBSOLETE: Atypical teratoid/rhabdoid tumor",["OBSOLETE: AT/RT"]],[251896,"Choroid plexus tumor"],[251899,"Choroid plexus carcinoma"],[251902,"Atypical papilloma of choroid plexus",["Atypical CPP","Atypical choroid plexus papilloma"]],[251905,"Pineal tumor of neuroepithelial tissue"],[251909,"Pineoblastoma"],[251912,"Pineocytoma"],[251915,"Papillary tumor of the pineal region",["PTPR"]],[251919,"Pineal parenchymal tumor of intermediate differentiation"],[251924,"Neuronal tumor"],[251927,"Extraventricular neurocytoma",["EVN"]],[251931,"Cerebellar liponeurocytoma"],[251934,"Mixed neuronal-glial tumor"],[251937,"Gangliocytoma"],[251940,"Desmoplastic infantile astrocytoma/ganglioglioma",["DIA/DIG"]],[251946,"Dysembryoplastic neuroepithelial tumor",["DNET"]],[251949,"Ganglioglioma"],[251957,"Anaplastic ganglioglioma"],[251962,"Papillary glioneuronal tumor",["PGNT","Pseudopapillary ganglioglioneurocytoma","Pseudopapillary neurocytoma with glial differentiation"]],[251975,"Rosette-forming glioneuronal tumor",["RGNT"]],[251992,"Ganglioneuroma"],[251995,"Primary germ cell tumor of central nervous system",["Primary germ cell tumor of CNS"]],[252006,"Yolk sac tumor of central nervous system",["Endodermal sinus tumor of CNS","Endodermal sinus tumor of central nervous system","Intracranial endodermal sinus tumor","Intracranial yolk sac tumor","Yolk sac tumor of CNS"]],[252015,"Choriocarcinoma of the central nervous system"],[252018,"Teratoma of the central nervous system"],[252021,"Mixed germ cell tumor of central nervous system",["Mixed germ cell tumor of CNS"]],[252025,"Tumor of meninges"],[252028,"Primary melanocytic tumor of central nervous system",["Primary melanocytic lesion of CNS","Primary melanocytic lesion of central nervous system","Primary melanocytic tumor of CNS"]],[252031,"Diffuse leptomeningeal melanocytosis",["DLM","Leptomeningeal melanomatosis"]],[252046,"Meningeal melanocytoma"],[252050,"Primary melanoma of the central nervous system",["Malignant melanoma of meninges","Primary melanoma of the CNS"]],[252054,"Hemangioblastoma"],[252057,"Tumor of cranial and spinal nerves",["Rare tumor of cranial and spinal nerves"]],[252128,"Malignant peripheral nerve sheath tumor with perineurial differentiation",["Malignant perineurioma"]],[252131,"Benign peripheral nerve sheath tumor",["BPNST"]],[252164,"Benign schwannoma",["Neurilemmoma","Neurilemoma","Peripheral fibroblastoma"]],[252175,"Vestibular schwannoma",["Acoustic neurilemoma","Acoustic neurinoma","Acoustic neuroma"]],[252183,"Neurofibroma"],[252190,"Inherited nervous system cancer-predisposing syndrome"],[252202,"Constitutional mismatch repair deficiency syndrome",["CMMR-D syndrome"]],[252206,"Melanoma and neural system tumor syndrome",["Melanoma-astrocytoma syndrome"]],[252212,"Malignant triton tumor",["MPNST with rhabdomyosarcomatous differentiation","MTT","Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation"]],[254334,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type B",["RI-CMT type B"]],[254343,"Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome",["Autosomal recessive spastic ataxia type 4","SPAX4"]],[254346,"19p13.12 microdeletion syndrome",["Del(19)(p13.12)","Monosomy 19p13.12"]],[254351,"Distal 7q11.23 microdeletion syndrome",["Distal del(7)(q11.23)","Distal monosomy 7q11.23"]],[254361,"Plectin-related limb-girdle muscular dystrophy R17",["Autosomal recessive limb-girdle muscular dystrophy type 2Q","LGMD type 2Q","LGMD2Q","Limb-girdle muscular dystrophy type 2Q","Plectin-related LGMD R17"]],[254367,"Rare lichen planus",["Rare LP"]],[254370,"Rare cutaneous lichen planus",["Rare cutaneous LP"]],[254373,"Rare mucosal lichen planus",["Rare mucosal LP"]],[254379,"Linear lichen planus",["Blaschkoid LP","Blaschkoid lichen planus","Linear LP"]],[254395,"Actinic lichen planus",["Actinic LP","Lichen planus actinus","Lichen planus subtropicus","Lichen planus tropicus","Lichenoid melanodermatitis","Summertime actinic lichenoid eruption"]],[254411,"Annular atrophic lichen planus",["Annular atrophic LP"]],[254424,"Annular lichen planus",["Annular LP"]],[254449,"Atrophic lichen planus",["Atrophic LP"]],[254463,"Lichen planus pigmentosus",["LP pigmentosa","LP pigmentosus","Lichen planus pigmentosa","Lichen planus pigmentosus inversus"]],[254478,"Lichen planus pemphigoides",["LP pemphigoides"]],[254492,"Frontal fibrosing alopecia",["FFA"]],[254504,"Inhalational botulism",["Inhalation botulism"]],[254509,"Iatrogenic botulism",["Inadvertent botulism"]],[254516,"Temple syndrome"],[254519,"Kagami-Ogata syndrome",["KOS"]],[254525,"Temple syndrome due to paternal 14q32.2 microdeletion",["Paternal del(14)(q32.2)"]],[254528,"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion",["Maternal del(14)(q32.2)","Maternal monosomy 14q32.2"]],[254531,"Temple syndrome due to paternal 14q32.2 hypomethylation"],[254534,"Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"],[254685,"Gestational trophoblastic disease"],[254688,"Complete hydatidiform mole",["Complete molar pregnancy"]],[254693,"Partial hydatidiform mole",["Incomplete hydatidiform mole","Incomplete molar pregnancy","Partial molar pregnancy"]],[254698,"Epithelioid trophoblastic tumor"],[254704,"Genetic hyperferritinemia without iron overload",["Benign hyperferritinemia"]],[254707,"Faisalabad histiocytosis",["FHC"]],[254712,"Familial sinus histiocytosis with massive lymphadenopathy",["Familial Rosaï-Dorfman disease","Familial SHML"]],[254723,"Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome",["PHID"]],[254746,"Pyruvate metabolism disorder"],[254749,"Tricarboxylic acid cycle disorder",["Citric acid cycle disorder","Krebs cycle disorder","TCA cycle disorder"]],[254758,"Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies",["Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies","OXPHOS disease due to mitochondrial DNA anomalies","OXPHOS disease due to mtDNA anomalies"]],[254767,"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA",["Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA","OXPHOS disease due to a large-scale single deletion of mitochondrial DNA","OXPHOS disease due to a large-scale single deletion of mtDNA"]],[254776,"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA",["Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA","OXPHOS disease due to a point mutation of mitochondrial DNA","OXPHOS disease due to a point mutation of mtDNA"]],[254788,"Mitochondrial DNA-related mitochondrial myopathy",["Maternally-inherited mitochondrial myopathy","mtDNA-related mitochondrial myopathy"]],[254793,"OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA",["OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA","OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA","OBSOLETE: OXPHOS disease due to a duplication of mtDNA"]],[254803,"Mitochondrial DNA depletion syndrome, encephalomyopathic form",["mtDNA depletion syndrome, encephalomyopathic form"]],[254807,"Multiple mitochondrial DNA deletion syndrome",["Multiple mtDNA deletion syndrome"]],[254818,"Ataxia neuropathy spectrum"],[254822,"Mitochondrial oxidative phosphorylation disorder with no known mechanism",["OXPHOS disease with no known mechanism"]],[254827,"Mitochondrial membrane transport disorder"],[254830,"Mitochondrial substrate carrier disorder"],[254834,"Mitochondrial protein import disorder"],[254837,"Unspecified mitochondrial disorder"],[254843,"Exercise intolerance with lactic acidosis"],[254846,"Isolated oxidative phosphorylation complex disorder",["Isolated respiratory chain complex disorder"]],[254851,"Mitochondrial DNA-related dystonia",["Maternally-inherited mitochondrial dystonia","mtDNA-related dystonia"]],[254854,"Pure mitochondrial myopathy"],[254857,"Lethal infantile mitochondrial myopathy",["LIMD","LIMM","Lethal infantile mitochondrial disease"]],[254864,"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency",["Benign COX deficiency","Infantile reversible cytochrome C oxidase deficiency myopathy","Mitochondrial myopathy with reversible COX deficiency","Mitochondrial myopathy with reversible complex IV deficiency","Reversible infantile cytochrome C oxidase deficiency","Reversible infantile respiratory chain deficiency"]],[254871,"Mitochondrial DNA depletion syndrome, hepatocerebral form",["Deoxyguanosine kinase deficiency","mtDNA depletion syndrome, hepatocerebral form"]],[254875,"TK2-related mitochondrial DNA maintenance defect, myopathic form",["TK2 deficiency","Thymidine kinase 2 deficiency","TK2d"]],[254881,"Spinocerebellar ataxia with epilepsy",["MSCAE","Mitochondrial spinocerebellar ataxia with epilepsy","SCAE"]],[254886,"Autosomal recessive progressive external ophthalmoplegia",["arPEO"]],[254892,"Autosomal dominant progressive external ophthalmoplegia",["adPEO"]],[254898,"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome",["Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"]],[254902,"Renal tubulopathy-encephalopathy-liver failure syndrome"],[254905,"Isolated cytochrome C oxidase deficiency",["Isolated COX deficiency","Isolated mitochondrial respiratory chain complex IV deficiency"]],[254913,"Isolated ATP synthase deficiency",["Isolated mitochondrial respiratory chain complex V deficiency"]],[254920,"Combined oxidative phosphorylation defect type 2",["COXPD2"]],[254925,"Combined oxidative phosphorylation defect type 4",["COXPD4"]],[254930,"Combined oxidative phosphorylation defect type 7",["Severe C12ORF65-related combined oxidative phosphorylation defect","COXPD7","Severe C12ORF65-related COXPD"]],[255117,"OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness"],[255132,"Adult-onset autosomal recessive sideroblastic anemia",["GLRX5-related sideroblastic anemia"]],[255138,"Pyruvate dehydrogenase E1-beta deficiency",["PDHBD","Pyruvate dehydrogenase complex E1 component subunit beta deficiency"]],[255182,"Pyruvate dehydrogenase E3-binding protein deficiency",["2-oxoglutarate complex deficiency","Branched chain alpha-ketoacid dehydrogenase complex deficiency","Diaphorase deficiency","Dihydrolipoyl dehydrogenase deficiency","Glycine cleavage system L protein deficiency","Lipoamide dehydrogenase deficiency","Pyruvate dehydrogenase complex component E3 deficiency","Pyruvate dehydrogenase protein X component deficiency"]],[255199,"OBSOLETE: Sporadic Leigh syndrome",["OBSOLETE: Sporadic Leigh disease","OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy"]],[255210,"Mitochondrial DNA-associated Leigh syndrome",["MILS","Maternally-inherited Leigh disease","Maternally-inherited infantile subacute necrotizing encephalopathy","mtDNA-associated Leigh syndrome"]],[255225,"OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy"],[255229,"Navajo neurohepatopathy",["Navajo neuropathy"]],[255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",["mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy"]],[255241,"Leigh syndrome with leukodystrophy",["Infantile subacute necrotizing encephalopathy with leukodystrophy","Leigh disease with leukodystrophy"]],[255249,"Leigh syndrome with nephrotic syndrome",["Infantile subacute necrotizing encephalopathy with nephrotic syndrome","Leigh disease with nephrotic syndrome"]],[260305,"Autosomal recessive sideroblastic anemia",["ARSA","Congenital sideroblastic anemia"]],[261102,"Distal 7q11.23 microduplication syndrome",["Distal trisomy 7q11.23","Dup7q11.23D","Distal dup(7)(q11.23)"]],[261112,"Monosomy 9p syndrome",["9p deletion syndrome","9p- syndrome","Alfi syndrome"]],[261120,"14q11.2 microdeletion syndrome",["Monosomy 14q11.2","Del(14)(q11.2)"]],[261144,"FOXG1 syndrome due to 14q12 microdeletion",["Del(14)(q12)","Monosomy 14q12"]],[261183,"15q11.2 microdeletion syndrome",["15q11.2 BP1-BP2 microdeletion syndrome","Del(15)(q11.2)","Monosomy 15q11.2"]],[261190,"Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion",["15q14 microdeletion syndrome","Del(15)(q14)","Monosomy 15q14"]],[261197,"Proximal 16p11.2 microdeletion syndrome",["Proximal del(16)(p11.2)","Proximal monosomy 16p11.2"]],[261204,"16p11.2p12.2 microduplication syndrome",["Dup(16)(p11.2p12.2)","Trisomy 16p11.2p12.2"]],[261211,"16p11.2p12.2 microdeletion syndrome",["Del(16)(p11.2p12.2)","Monosomy 16p11.2p12.2"]],[261222,"Distal 16p11.2 microdeletion syndrome",["Distal del(16)(p11.2)","Distal monosomy 16p11.2"]],[261229,"14q11.2 microduplication syndrome",["Dup(14)(q11.2)","Trisomy 14q11.2"]],[261236,"16p13.11 microdeletion syndrome",["Del(16)(p13.11)","Monosomy 16p13.11"]],[261243,"16p13.11 microduplication syndrome",["Dup(16)(p13.11)","Trisomy 16p13.11"]],[261250,"16q24.3 microdeletion syndrome",["Del(16)(q24.3)","Monosomy 16q24.3"]],[261257,"Distal 17p13.3 microdeletion syndrome",["Distal del(17)(p13.3 )","Distal monosomy 17p13.3"]],[261265,"17q12 microdeletion syndrome",["Del(17)(q12)","Monosomy 17q12"]],[261272,"17q12 microduplication syndrome",["Dup(17)(q12)","Trisomy 17q12"]],[261279,"17q23.1q23.2 microdeletion syndrome",["Del(17)(q23.1q23.2)","Monosomy 17q23.1q23.2"]],[261290,"Trisomy 17p syndrome",["Dup(17p)"]],[261295,"20p12.3 microdeletion syndrome",["Del(20)(p12.3)","Monosomy 20p12.3"]],[261304,"Paternal 20q13.2q13.3 microdeletion syndrome",["Paternal del(20)(q13.2q13.3)","Paternal monosomy 20q13.2q13.3"]],[261311,"20q13.33 microdeletion syndrome",["Del(20)(q13.33)","Monosomy 20q13.33"]],[261318,"Trisomy 20p syndrome",["Dup(20p)","Duplication of 20p","Partial duplication of chromosome 20p","Partial duplication of the short arm of chromosome 20","Partial trisomy of chromosome 20p","Partial trisomy of the short arm of chromosome 20"]],[261323,"21q22.11q22.12 microdeletion syndrome",["Del(21)(q22.11q22.12)","Monosomy 21q22.11q22.12"]],[261330,"Distal 22q11.2 microdeletion syndrome",["Distal del(22)(q11.2)","Distal monosomy 22q11.2"]],[261337,"Distal 22q11.2 microduplication syndrome",["Distal dup(22)(q11.2)","Distal trisomy 22q11.2"]],[261344,"Trisomy 1q syndrome",["Duplication 1q"]],[261349,"2p15p16.1 microdeletion syndrome",["Del(2)(p15p16.1)","Monosomy 2p15p16.1"]],[261476,"Xp21 deletion syndrome",["Complex GKD","Complex glycerol kinase deficiency","Del(X)(p21)","Xp21 contiguous gene deletion syndrome","Xp21 microdeletion syndrome"]],[261483,"Xq27.3q28 duplication syndrome",["Dup(X)(q27.3q28)","Trisomy Xq27.3-q28","Trisomy Xq27.3q28","Xq27.3-q28 microduplication syndrome"]],[261494,"Kleefstra syndrome"],[261501,"Atypical Norrie disease due to Xp11.3 microdeletion",["Atypical Norrie disease due to del(X)(p11.3)","Atypical Norrie disease due to nullisomy Xp11.3"]],[261512,"OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3",["OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion","OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)"]],[261519,"Maternal uniparental disomy of chromosome X syndrome",["UPD(X)mat"]],[261524,"Paternal uniparental disomy of chromosome X syndrome",["UPD(X)pat"]],[261529,"Ring chromosome Y syndrome",["Ring chromosome Y","r(Y)"]],[261534,"49,XXXYY syndrome"],[261537,"Mowat-Wilson syndrome due to monosomy 2q22",["Hirschsprung disease and intellectual disability due to 2q22 microdeletion","Hirschsprung disease and intellectual disability due to del(2)(q22)","Hirschsprung disease and intellectual disability due to monosomy 2q22","Mowat-Wilson syndrome due to 2q22 microdeletion","Mowat-Wilson syndrome due to del(2)q(22)"]],[261552,"Mowat-Wilson syndrome due to a ZEB2 point mutation",["Hirschsprung disease and intellectual disability due to a ZEB2 point mutation"]],[261559,"OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome"],[261572,"OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome",["OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation"]],[261579,"OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations",["OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations","OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV"]],[261584,"5q22 microdeletion syndrome",["Del(5)(q22) syndrome","Monosomy 5q22 syndrome"]],[261600,"Alagille syndrome due to 20p12 microdeletion",["Alagille syndrome due to del(20)(p12)","Alagille syndrome due to monosomy 20p12","Alagille-Watson syndrome due to monosomy 20p12","Arteriohepatic dysplasia due to monosomy 20p12","Syndromic bile duct paucity due to monosomy 20p12"]],[261619,"Alagille syndrome due to a JAG1 point mutation",["Alagille-Watson syndrome due to a JAG1 point mutation","Arteriohepatic dysplasia due to a JAG1 point mutation","Syndromic bile duct paucity due to a JAG1 point mutation"]],[261629,"Alagille syndrome due to a NOTCH2 point mutation",["Alagille-Watson syndrome due to a NOTCH2 point mutation","Arteriohepatic dysplasia due to a NOTCH2 point mutation","Syndromic bile duct paucity due to a NOTCH2 point mutation"]],[261638,"Okihiro syndrome due to 20q13 microdeletion",["Duane-radial ray syndrome due to monosomy 20q13","Okihiro syndrome due to del(20)(q13)","Okihiro syndrome due to monosomy 20q13"]],[261647,"Okihiro syndrome due to a point mutation",["Duane-radial ray syndrome due to a point mutation"]],[261652,"Kleefstra syndrome due to a point mutation"],[261697,"OBSOLETE: Anomaly of chromosome 1"],[261700,"OBSOLETE: Anomaly of chromosome 2"],[261703,"OBSOLETE: Anomaly of chromosome 3"],[261706,"OBSOLETE: Anomaly of chromosome 4"],[261709,"OBSOLETE: Anomaly of chromosome 5"],[261712,"OBSOLETE: Anomaly of chromosome 6"],[261715,"OBSOLETE: Anomaly of chromosome 7"],[261718,"OBSOLETE: Anomaly of chromosome 8"],[261721,"OBSOLETE: Anomaly of chromosome 9"],[261724,"OBSOLETE: Anomaly of chromosome 10"],[261730,"OBSOLETE: Anomaly of chromosome 11"],[261733,"OBSOLETE: Anomaly of chromosome 12"],[261736,"OBSOLETE: Anomaly of chromosome 13"],[261739,"OBSOLETE: Anomaly of chromosome 14"],[261742,"OBSOLETE: Anomaly of chromosome 15"],[261745,"OBSOLETE: Anomaly of chromosome 16"],[261748,"OBSOLETE: Anomaly of chromosome 17"],[261751,"OBSOLETE: Anomaly of chromosome 18"],[261754,"OBSOLETE: Anomaly of chromosome 19"],[261757,"OBSOLETE: Anomaly of chromosome 20"],[261760,"OBSOLETE: Anomaly of chromosome 21"],[261763,"OBSOLETE: Anomaly of chromosome 22"],[261766,"Partial deletion of chromosome 1 syndrome",["Partial monosomy of chromosome 1"]],[261771,"Partial deletion of chromosome 2 syndrome",["Partial monosomy of chromosome 2"]],[261776,"Partial deletion of chromosome 3 syndrome",["Partial monosomy of chromosome 3"]],[261781,"Partial deletion of chromosome 4 syndrome",["Partial monosomy of chromosome 4"]],[261786,"Partial deletion of chromosome 5 syndrome",["Partial monosomy of chromosome 5"]],[261791,"Partial deletion of chromosome 6 syndrome",["Partial monosomy of chromosome 6"]],[261796,"Partial deletion of chromosome 7 syndrome",["Partial monosomy of chromosome 7"]],[261801,"Partial deletion of chromosome 8 syndrome",["Partial monosomy of chromosome 8"]],[261806,"Partial deletion of chromosome 9 syndrome",["Partial monosomy of chromosome 9"]],[261811,"Partial deletion of chromosome 10 syndrome",["Partial monosomy of chromosome 10"]],[261816,"Partial deletion of chromosome 11 syndrome",["Partial monosomy of chromosome 11"]],[261821,"Partial deletion of the long arm of chromosome 12 syndrome",["Partial deletion of chromosome 12q","Partial monosomy of chromosome 12q","Partial monosomy of the long arm of chromosome 12"]],[261826,"Partial deletion of chromosome 16 syndrome",["Partial monosomy of chromosome 16"]],[261831,"Partial deletion of chromosome 17 syndrome",["Partial monosomy of chromosome 17"]],[261836,"Partial deletion of chromosome 18 syndrome",["Partial monosomy of chromosome 18"]],[261841,"Partial deletion of chromosome 19 syndrome",["Partial monosomy of chromosome 19"]],[261846,"Partial deletion of chromosome 20 syndrome",["Partial monosomy of chromosome 20"]],[261857,"Partial deletion of the short arm of chromosome 1 syndrome",["Partial deletion of chromosome 1p","Partial monosomy of chromosome 1p","Partial monosomy of the short arm of chromosome 1"]],[261866,"Partial deletion of the short arm of chromosome 2 syndrome",["Partial deletion of chromosome 2p","Partial monosomy of chromosome 2p","Partial monosomy of the short arm of chromosome 2"]],[261875,"Partial deletion of the short arm of chromosome 3 syndrome",["Partial deletion of chromosome 3p","Partial monosomy of chromosome 3p","Partial monosomy of the short arm of chromosome 3"]],[261884,"Partial deletion of the short arm of chromosome 4 syndrome",["Partial deletion of chromosome 4p","Partial monosomy of chromosome 4p","Partial monosomy of the short arm of chromosome 4"]],[261893,"Partial deletion of the short arm of chromosome 5 syndrome",["Partial deletion of chromosome 5p","Partial monosomy of chromosome 5p","Partial monosomy of the short arm of chromosome 5"]],[261902,"Partial deletion of the short arm of chromosome 6 syndrome",["Partial deletion of chromosome 6p","Partial monosomy of chromosome 6p","Partial monosomy of the short arm of chromosome 6"]],[261911,"Partial deletion of the short arm of chromosome 7 syndrome",["Partial deletion of chromosome 7p","Partial monosomy of chromosome 7p","Partial monosomy of the short arm of chromosome 7"]],[261920,"Partial deletion of the short arm of chromosome 8 syndrome",["Partial deletion of chromosome 8p","Partial monosomy of chromosome 8p","Partial monosomy of the short arm of chromosome 8"]],[261929,"Partial deletion of the short arm of chromosome 9 syndrome",["Partial deletion of chromosome 9p","Partial monosomy of chromosome 9p","Partial monosomy of the short arm of chromosome 9"]],[261938,"Partial deletion of the short arm of chromosome 10 syndrome",["Partial deletion of chromosome 10p","Partial monosomy of chromosome 10p","Partial monosomy of the short arm of chromosome 10"]],[261947,"Partial deletion of the short arm of chromosome 11 syndrome",["Partial deletion of chromosome 11p","Partial monosomy of chromosome 11p","Partial monosomy of the short arm of chromosome 11"]],[261956,"Partial deletion of the short arm of chromosome 16 syndrome",["Partial monosomy of the short arm of chromosome 16","Partial deletion of chromosome 16p","Partial monosomy of chromosome 16p"]],[261965,"Partial deletion of the short arm of chromosome 17 syndrome",["Partial deletion of chromosome 17p","Partial monosomy of chromosome 17p","Partial monosomy of the short arm of chromosome 17"]],[261974,"Partial deletion of the short arm of chromosome 18 syndrome",["Partial deletion of chromosome 18p","Partial monosomy of chromosome 18p","Partial monosomy of the short arm of chromosome 18"]],[261983,"Partial deletion of the short arm of chromosome 19 syndrome",["Partial deletion of chromosome 19p","Partial monosomy of chromosome 19p","Partial monosomy of the short arm of chromosome 19"]],[261992,"Partial deletion of the short arm of chromosome 20 syndrome",["Partial deletion of chromosome 20p","Partial monosomy of chromosome 20p","Partial monosomy of the short arm of chromosome 20","Pure partial 20p deletion"]],[262001,"Partial deletion of the long arm of chromosome 1 syndrome",["Partial monosomy of chromosome 1q","Partial monosomy of the long arm of chromosome 1","Partial deletion of chromosome 1q"]],[262010,"Partial deletion of the long arm of chromosome 2 syndrome",["Partial deletion of chromosome 2q","Partial monosomy of chromosome 2q","Partial monosomy of the long arm of chromosome 2"]],[262019,"Partial deletion of the long arm of chromosome 3 syndrome",["Partial deletion of chromosome 3q","Partial monosomy of chromosome 3q","Partial monosomy of the long arm of chromosome 3"]],[262029,"Partial deletion of the long arm of chromosome 4 syndrome",["Partial deletion of chromosome 4q","Partial monosomy of chromosome 4q","Partial monosomy of the long arm of chromosome 4"]],[262038,"Partial deletion of the long arm of chromosome 5 syndrome",["Partial deletion of chromosome 5q","Partial monosomy of chromosome 5q","Partial monosomy of the long arm of chromosome 5"]],[262047,"Partial deletion of the long arm of chromosome 6 syndrome",["Partial deletion of chromosome 6q","Partial monosomy of chromosome 6q","Partial monosomy of the long arm of chromosome 6"]],[262056,"Partial deletion of the long arm of chromosome 7 syndrome",["Partial deletion of chromosome 7q","Partial monosomy of chromosome 7q","Partial monosomy of the long arm of chromosome 7"]],[262065,"Partial deletion of the long arm of chromosome 8 syndrome",["Partial deletion of chromosome 8q","Partial monosomy of chromosome 8q","Partial monosomy of the long arm of chromosome 8"]],[262074,"Partial deletion of the long arm of chromosome 9 syndrome",["Partial deletion of chromosome 9q","Partial monosomy of chromosome 9q","Partial monosomy of the long arm of chromosome 9"]],[262083,"Partial deletion of the long arm of chromosome 10 syndrome",["Partial deletion of chromosome 10q","Partial monosomy of chromosome 10q","Partial monosomy of the long arm of chromosome 10"]],[262092,"Partial deletion of the long arm of chromosome 11 syndrome",["Partial deletion of chromosome 11q","Partial monosomy of chromosome 11q","Partial monosomy of the long arm of chromosome 11"]],[262101,"Partial deletion of the long arm of chromosome 13 syndrome",["Partial deletion of chromosome 13q","Partial monosomy of chromosome 13q","Partial monosomy of the long arm of chromosome 13"]],[262110,"Partial deletion of the long arm of chromosome 14 syndrome",["Partial deletion of chromosome 14q","Partial monosomy of chromosome 14q","Partial monosomy of the long arm of chromosome 14"]],[262119,"Partial deletion of the long arm of chromosome 15 syndrome",["Partial deletion of chromosome 15q","Partial monosomy of chromosome 15q","Partial monosomy of the long arm of chromosome 15"]],[262128,"Partial deletion of the long arm of chromosome 16 syndrome",["Partial deletion of chromosome 16q","Partial monosomy of chromosome 16q","Partial monosomy of the long arm of chromosome 16"]],[262137,"Partial deletion of the long arm of chromosome 17 syndrome",["Partial deletion of chromosome 17q","Partial monosomy of chromosome 17q","Partial monosomy of the long arm of chromosome 17"]],[262146,"Partial deletion of the long arm of chromosome 18 syndrome",["Partial deletion of chromosome 18q","Partial monosomy of chromosome 18q","Partial monosomy of the long arm of chromosome 18"]],[262155,"Partial deletion of the long arm of chromosome 19 syndrome",["Partial deletion of chromosome 19q","Partial monosomy of chromosome 19q","Partial monosomy of the long arm of chromosome 19"]],[262164,"Partial deletion of the long arm of chromosome 20 syndrome",["Partial deletion of chromosome 20q","Partial monosomy of chromosome 20q","Partial monosomy of the long arm of chromosome 20"]],[262173,"Partial deletion of the long arm of chromosome 21 syndrome",["Partial deletion of chromosome 21q","Partial monosomy of chromosome 21q","Partial monosomy of the long arm of chromosome 21"]],[262182,"Partial deletion of the long arm of chromosome 22 syndrome",["Partial deletion of chromosome 22q","Partial monosomy of chromosome 22q","Partial monosomy of the long arm of chromosome 22"]],[262191,"Partial duplication of chromosome 1 syndrome",["Partial trisomy of chromosome 1"]],[262196,"Partial duplication of chromosome 2 syndrome",["Partial trisomy of chromosome 2"]],[262201,"Partial duplication of chromosome 3 syndrome",["Partial trisomy of chromosome 3"]],[262206,"Partial duplication of chromosome 4 syndrome",["Partial trisomy of chromosome 4"]],[262211,"Partial duplication/triplication of chromosome 5 syndrome",["Partial trisomy/tetrasomy of chromosome 5"]],[262628,"Partial duplication of chromosome 6 syndrome",["Partial trisomy of chromosome 6"]],[262633,"Partial duplication of chromosome 7 syndrome",["Partial trisomy of chromosome 7"]],[262638,"Partial duplication of chromosome 8 syndrome",["Partial trisomy of chromosome 8"]],[262643,"Partial duplication/triplication of chromosome 9 syndrome",["Partial trisomy/tetrasomy of chromosome 9"]],[262648,"Partial duplication of chromosome 10 syndrome",["Partial trisomy of chromosome 10"]],[262653,"Partial duplication of chromosome 11 syndrome",["Partial trisomy of chromosome 11"]],[262658,"Partial duplication/triplication of the short arm of chromosome 12 syndrome",["Partial duplication/triplication of chromosome 12p","Partial trisomy/tetrasomy of chromosome 12p","Partial trisomy/tetrasomy of the short arm of chromosome 12"]],[262672,"Partial duplication of chromosome 16 syndrome",["Partial trisomy of chromosome 16"]],[262677,"Partial duplication of chromosome 17 syndrome",["Partial trisomy of chromosome 17"]],[262682,"Partial duplication/triplication of chromosome 18 syndrome",["Partial trisomy/tetrasomy of chromosome 18"]],[262687,"Partial duplication of chromosome 19 syndrome",["Partial trisomy of chromosome 19"]],[262692,"Partial duplication of chromosome 20 syndrome",["Partial trisomy of chromosome 20"]],[262698,"Partial duplication of the short arm of chromosome 2 syndrome",["Partial duplication of chromosome 2p","Partial trisomy of chromosome 2p"]],[262707,"Partial duplication of the short arm of chromosome 3 syndrome",["Partial duplication of chromosome 3p","Partial trisomy of chromosome 3p","Partial trisomy of the short arm of chromosome 3"]],[262716,"Partial duplication of the short arm of chromosome 4 syndrome",["Partial duplication of chromosome 4p","Partial trisomy of chromosome 4p","Partial trisomy of the short arm of chromosome 4"]],[262725,"Partial duplication/triplication of the short arm of chromosome 5 syndrome",["Partial duplication/triplication of chromosome 5p","Partial trisomy/tetrasomy of chromosome 5p","Partial trisomy/tetrasomy of the short arm of chromosome 5"]],[262740,"Partial duplication of the short arm of chromosome 6 syndrome",["Partial trisomy of the short arm of chromosome 6","Partial duplication of chromosome 6p","Partial trisomy of chromosome 6p"]],[262749,"Partial duplication of the short arm of chromosome 7 syndrome",["Partial duplication of chromosome 7p","Partial trisomy of chromosome 7p","Partial trisomy of the short arm of chromosome 7"]],[262758,"Partial duplication of the short arm of chromosome 8 syndrome",["Partial duplication of chromosome 8p","Partial trisomy of chromosome 8p","Partial trisomy of the short arm of chromosome 8"]],[262767,"Partial duplication/triplication of the short arm of chromosome 9 syndrome",["Partial duplication of chromosome 9p","Partial duplication of the short arm of chromosome 9","Partial tetrasomy of chromosome 9p","Partial triplication of chromosome 9p","Partial trisomy of chromosome 9p","Partial trisomy/tetrasomy of the short arm of chromosome 9"]],[262776,"Partial duplication of the short arm of chromosome 10 syndrome",["Partial duplication of chromosome 10p","Partial trisomy of chromosome 10p","Partial trisomy of the short arm of chromosome 10"]],[262785,"Partial duplication of the short arm of chromosome 11 syndrome",["Partial duplication of chromosome 11p","Partial trisomy of chromosome 11p","Partial trisomy of the short arm of chromosome 11"]],[262794,"Partial duplication of the short arm of chromosome 16 syndrome",["Partial duplication of chromosome 16p","Partial trisomy of chromosome 16p","Partial trisomy of the short arm of chromosome 16"]],[262803,"Partial duplication of the short arm of chromosome 17 syndrome",["Partial duplication of chromosome 17p","Partial trisomy of chromosome 17p","Partial trisomy of the short arm of chromosome 17"]],[262812,"Partial duplication/triplication of the short arm of chromosome 18 syndrome",["Partial duplication/triplication of chromosome 18p","Partial trisomy/tetrasomy of chromosome 18p","Partial trisomy/tetrasomy of the short arm of chromosome 18"]],[262833,"Partial duplication of the long arm of chromosome 1 syndrome",["Partial duplication of chromosome 1q","Partial trisomy of chromosome 1q","Partial trisomy of the long arm of chromosome 1"]],[262842,"Partial duplication of the long arm of chromosome 2 syndrome",["Partial duplication of chromosome 2q","Partial trisomy of chromosome 2q","Partial trisomy of the long arm of chromosome 2"]],[262851,"Partial duplication of the long arm of chromosome 3 syndrome",["Partial duplication of chromosome 3q","Partial trisomy of chromosome 3q"]],[262860,"Partial duplication of the long arm of chromosome 4 syndrome",["Partial duplication of chromosome 4q","Partial trisomy of chromosome 4q","Partial trisomy of the long arm of chromosome 4"]],[262869,"Partial duplication of the long arm of chromosome 5 syndrome",["Partial duplication of chromosome 5q","Partial trisomy of chromosome 5q","Partial trisomy of the long arm of chromosome 5"]],[262878,"Partial duplication of the long arm of chromosome 6 syndrome",["Partial duplication of chromosome 6q","Partial trisomy of chromosome 6q","Partial trisomy of the long arm of chromosome 6"]],[262887,"Partial duplication of the long arm of chromosome 7 syndrome",["Partial duplication of chromosome 7q","Partial trisomy of chromosome 7q","Partial trisomy of the long arm of chromosome 7"]],[262896,"Partial duplication of the long arm of chromosome 8 syndrome",["Partial duplication of chromosome 8q","Partial trisomy of chromosome 8q","Partial trisomy of the long arm of chromosome 8"]],[262905,"Partial duplication of the long arm of chromosome 9 syndrome",["Partial duplication of chromosome 9q","Partial trisomy of chromosome 9q","Partial trisomy of the long arm of chromosome 9"]],[262914,"Partial duplication of the long arm of chromosome 10 syndrome",["Partial duplication of chromosome 10q","Partial trisomy of chromosome 10q","Partial trisomy of the long arm of chromosome 10"]],[262923,"Partial duplication of the long arm of chromosome 11 syndrome",["Partial duplication of chromosome 11q","Partial trisomy of chromosome 11q","Partial trisomy of the long arm of chromosome 11"]],[262932,"Partial duplication of the long arm of chromosome 13 syndrome",["Partial duplication of chromosome 13q","Partial trisomy of chromosome 13q","Partial trisomy of the long arm of chromosome 13"]],[262941,"Partial duplication of the long arm of chromosome 14 syndrome",["Partial duplication of chromosome 14q","Partial trisomy of chromosome 14q","Partial trisomy of the long arm of chromosome 14"]],[262950,"Partial duplication of the long arm of chromosome 15 syndrome",["Partial duplication of chromosome 15q","Partial trisomy of chromosome 15q","Partial trisomy of the long arm of chromosome 15"]],[262959,"Partial duplication of the long arm of chromosome 16 syndrome",["Partial duplication of chromosome 16q","Partial trisomy of chromosome 16q","Partial trisomy of the long arm of chromosome 16"]],[262968,"Partial duplication of the long arm of chromosome 17 syndrome",["Partial duplication of chromosome 17q","Partial trisomy of chromosome 17q","Partial trisomy of the long arm of chromosome 17"]],[262977,"Partial duplication of the long arm of chromosome 18 syndrome",["Partial duplication of chromosome 18q","Partial trisomy of chromosome 18q","Partial trisomy of the long arm of chromosome 18"]],[262986,"Partial duplication of the long arm of chromosome 19 syndrome",["Partial duplication of chromosome 19q","Partial trisomy of chromosome 19q","Partial trisomy of the long arm of chromosome 19"]],[262995,"Partial duplication of the long arm of chromosome 20 syndrome",["Partial duplication of chromosome 20q","Partial trisomy of chromosome 20q","Partial trisomy of the long arm of chromosome 20"]],[263004,"Partial duplication of the long arm of chromosome 22 syndrome",["Partial duplication of chromosome 22q","Partial trisomy of chromosome 22q","Partial trisomy of the long arm of chromosome 22"]],[263019,"OBSOLETE: Uniparental disomy of chromosome 1",["OBSOLETE: UPD(1)"]],[263024,"OBSOLETE: Uniparental disomy of chromosome 6",["OBSOLETE: UPD(6)"]],[263029,"OBSOLETE: Uniparental disomy of chromosome 7",["OBSOLETE: UPD(7)"]],[263034,"OBSOLETE: Uniparental disomy of chromosome 11",["OBSOLETE: UPD(11)"]],[263044,"OBSOLETE: Uniparental disomy of chromosome 13",["OBSOLETE: UPD(13)"]],[263049,"OBSOLETE: Uniparental disomy of chromosome 14",["OBSOLETE: UPD(14)"]],[263054,"OBSOLETE: Uniparental disomy of chromosome 15",["OBSOLETE: UPD(15)"]],[263059,"OBSOLETE: Uniparental disomy of chromosome 20",["OBSOLETE: UPD(20)"]],[263064,"OBSOLETE: Uniparental disomy of chromosome 21",["OBSOLETE: UPD(21)"]],[263297,"Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency",["GSD type 15","GSD type XV","GSD with severe cardiomyopathy due to glycogenin deficiency","Glycogen storage disease type 15","Glycogen storage disease type XV","Glycogenosis type 15","Glycogenosis type XV","Glycogenosis with severe cardiomyopathy due to glycogenin deficiency"]],[263310,"Thymoma type A"],[263317,"Thymoma type B"],[263324,"Thymoma type AB"],[263331,"Well-differentiated thymic neuroendocrine carcinoma"],[263335,"Moderately-differentiated thymic neuroendocrine carcinoma"],[263339,"Poorly differentiated thymic neuroendocrine carcinoma"],[263347,"MRCS syndrome",["Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome"]],[263352,"Postcardiotomy right ventricular failure"],[263355,"OBSOLETE: ATR-X-related syndrome"],[263410,"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"],[263413,"Angiosarcoma"],[263417,"Bartter syndrome with hypocalcemia"],[263425,"Nevus of Ota",["Nevus fusculoceruleus ophthalmomaxillaris"]],[263432,"Nevus of Ito",["Nevus fuscocaeruleus acromiodeltoideus"]],[263435,"Congenital smooth muscle hamartoma"],[263440,"Neuroacanthocytosis"],[263455,"Congenital hyperinsulinism due to HNF4A deficiency",["Hyperinsulinemic hypoglycemia due to HNF4A deficiency"]],[263458,"Hyperinsulinism due to INSR deficiency",["Hyperinsulinemic hypoglycemia due to INSR deficiency","Hyperinsulinemic hypoglycemia due to insulin receptor deficiency"]],[263463,"CHST3-related skeletal dysplasia",["Chondrodysplasia with congenital joint dislocations, CHST3 type","SDCD, CHST3 type","Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type"]],[263479,"Fuchs heterochromic iridocyclitis",["FHI"]],[263482,"Spondyloepimetaphyseal dysplasia, Maroteaux type",["Pseudo-Morquio syndrome type 2","Pseudo-Morquio type II syndrome","SEMD, Maroteaux type","SEMD-M"]],[263487,"COG5-CDG",["CDG syndrome type IIi","CDG-IIi","CDG2I","Carbohydrate deficient glycoprotein syndrome type IIi","Congenital disorder of glycosylation type 2i","Congenital disorder of glycosylation type IIi"]],[263494,"DPM3-CDG",["CDG syndrome type Io","CDG-Io","CDG1O","Carbohydrate deficient glycoprotein syndrome type Io","Congenital disorder of glycosylation type 1o","Congenital disorder of glycosylation type Io"]],[263501,"COG4-CDG",["CDG syndrome type IIj","CDG-IIj","CDG2J","Carbohydrate deficient glycoprotein syndrome type IIj","Congenital disorder of glycosylation type 2j","Congenital disorder of glycosylation type IIj"]],[263508,"COG1-CDG",["CDG syndrome type IIg","CDG-IIg","CDG2G","Carbohydrate deficient glycoprotein syndrome type IIg","Congenital disorder of glycosylation type 2g","Congenital disorder of glycosylation type IIg"]],[263516,"Progressive myoclonic epilepsy type 3",["EPM3","PME type 3","Progressive myoclonic epilepsy due to KCTD7 deficiency","Progressive myoclonus epilepsy type 3"]],[263524,"Acute necrotizing encephalopathy of childhood",["ANEC","Isolated ANE","Isolated acute necrotizing encephalopathy"]],[263534,"Acral peeling skin syndrome",["Acral PSS","Localized PSS","PSS 2","Peeling skin syndrome 2"]],[263543,"Generalized peeling skin syndrome",["Generalized deciduous skin","Generalized PSS"]],[263548,"Peeling skin syndrome type A",["Generalized peeling skin syndrome type A","Non-inflammatory generalized peeling skin syndrome type A.","Non-inflammatory peeling skin syndrome type A","PSS type A"]],[263553,"Peeling skin syndrome type B",["Generalized peeling skin disease type B","Generalized peeling skin syndrome type B","Inflammatory peeling skin disease","Inflammatory peeling skin syndrome","PSS type B","PSS1","Peeling skin syndrome 1"]],[263558,"OBSOLETE: Peeling skin syndrome type C",["OBSOLETE: Generalized deciduous skin type C","OBSOLETE: Generalized peeling skin syndrome type C"]],[263662,"Familial multiple meningioma"],[263665,"NK-cell enteropathy"],[263676,"OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features"],[263708,"Complex chromosomal rearrangement syndrome"],[263711,"OBSOLETE: X chromosome anomaly"],[263714,"X chromosome number anomaly syndrome"],[263717,"X chromosome number anomaly with female phenotype syndrome"],[263720,"X chromosome number anomaly with male phenotype syndrome"],[263723,"Polysomy of X chromosome syndrome"],[263726,"Partial deletion of chromosome X syndrome",["Partial monosomy of chromosome X"]],[263731,"Partial deletion of the short arm of the chromosome X syndrome",["Partial deletion of chromosome Xp","Partial deletion of the short arm of chromosome X","Partial monosomy of chromosome Xp","Partial monosomy of the short arm of chromosome X"]],[263746,"Y chromosome number anomaly syndrome"],[263749,"X and Y chromosomal anomaly syndrome"],[263756,"Partial deletion of the long arm of chromosome X syndrome",["Partial deletion of chromosome Xq","Partial monosomy of chromosome Xq","Partial monosomy of the long arm of chromosome X"]],[263768,"Partial duplication of chromosome X syndrome",["Partial trisomy of chromosome X"]],[263775,"Partial duplication of the short arm of chromosome X syndrome",["Partial duplication of chromosome Xp","Partial trisomy of chromosome Xp","Partial trisomy of the short arm of chromosome X"]],[263783,"Partial duplication of the long arm of chromosome X syndrome",["Partial duplication of chromosome Xq","Partial trisomy of chromosome Xq","Partial trisomy of the long arm of chromosome X"]],[263793,"Uniparental disomy of chromosome X syndrome",["UPD(X)"]],[263798,"OBSOLETE: Y chromosomal anomaly"],[264200,"14q22q23 microdeletion syndrome",["14q22-q23 microdeletion syndrome","Del(14)(q22q23)","Monosomy 14q22-q23","Monosomy 14q22q23"]],[264431,"Partial duplication of the short arm of chromosome 1 syndrome",["Partial duplication of chromosome 1p","Partial trisomy of chromosome 1p"]],[264450,"Trisomy 8p syndrome",["Duplication 8p"]],[264580,"Glycogen storage disease due to liver phosphorylase kinase deficiency",["GSD due to liver phosphorylase kinase deficiency","GSD type 9A","GSD type 9C","GSD type IXa","GSD type IXc","Glycogen storage disease type 9A","Glycogen storage disease type 9C","Glycogen storage disease type IXa","Glycogen storage disease type IXc","Glycogenosis due to liver phosphorylase kinase deficiency","Glycogenosis type 9A","Glycogenosis type 9C","Glycogenosis type IXa","Glycogenosis type IXc","XLG"]],[264656,"Interstitial lung disease specific to childhood",["ILD specific to childhood"]],[264665,"Primary interstitial lung disease specific to childhood",["Primary ILD specific to childhood"]],[264670,"Primary interstitial lung disease specific to childhood due to alveolar structure disorder",["Primary ILD specific to childhood due to alveolar structure disorder"]],[264675,"Hereditary pulmonary alveolar proteinosis",["Congenital PAP","Congenital pulmonary alveolar proteinosis"]],[264683,"Primary interstitial lung disease specific to childhood due to alveolar vascular disorder",["Primary ILD specific to childhood due to alveolar vascular disorder"]],[264688,"Congenital chylothorax"],[264691,"Isolated pulmonary capillaritis"],[264694,"Interstitial lung disease specific to infancy",["ILD specific to infancy"]],[264699,"Secondary interstitial lung disease specific to childhood associated with a systemic disease",["Secondary ILD specific to childhood associated with a systemic disease"]],[264704,"Secondary interstitial lung disease specific to childhood associated with a connective tissue disease",["Secondary ILD specific to childhood associated with a connective tissue disease"]],[264709,"Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis",["Secondary ILD specific to childhood associated with a systemic vasculitis"]],[264714,"Secondary interstitial lung disease specific to childhood associated with a granulomatous disease",["Secondary ILD specific to childhood associated with a granulomatous disease"]],[264719,"Secondary interstitial lung disease specific to childhood associated with a metabolic disease",["Secondary ILD specific to childhood associated with a metabolic disease"]],[264724,"OBSOLETE: Langerhans cell histiocytosis specific to childhood",["OBSOLETE: Histiocytosis X specific to childhood","OBSOLETE: Langerhans cell granulomatosis specific to childhood"]],[264735,"Interstitial lung disease specific to adulthood",["ILD specific to adulthood"]],[264740,"Primary interstitial lung disease specific to adulthood",["Primary ILD specific to adulthood"]],[264745,"Secondary interstitial lung disease specific to adulthood associated with a systemic disease",["Secondary ILD specific to adulthood associated with a systemic disease"]],[264750,"OBSOLETE: Langerhans cell histiocytosis specific to adulthood",["OBSOLETE: Histiocytosis X specific to adulthood","OBSOLETE: Langerhans cell granulomatosis specific to adulthood"]],[264757,"Interstitial lung disease in childhood and adulthood",["ILD in childhood and adulthood"]],[264762,"Primary interstitial lung disease in childhood and adulthood",["Primary ILD in childhood and adulthood"]],[264930,"Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder",["Primary ILD in childhood and adulthood due to alveolar structure disorder"]],[264935,"Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder",["Primary ILD in childhood and adulthood due to alveolar vascular disorder"]],[264944,"Secondary interstitial lung disease in childhood and adulthood",["Secondary ILD in childhood and adulthood"]],[264949,"Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease",["Secondary ILD in childhood and adulthood associated with a systemic disease"]],[264955,"OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood",["OBSOLETE: Histiocytosis X in childhood and adulthood","OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood"]],[264968,"Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease",["Secondary ILD in childhood and adulthood associated with a metabolic disease"]],[264973,"Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis",["Secondary ILD in childhood and adulthood associated with a systemic vasculitis"]],[264978,"Drug or radiation exposure-related interstitial lung disease"],[264984,"Exposure-related interstitial lung disease"],[264992,"Genetic interstitial lung disease",["Genetic ILD"]],[268114,"RAS-associated autoimmune leukoproliferative disease",["RALD"]],[268129,"Spheroid body myopathy"],[268139,"Intraocular medulloepithelioma",["Orbital medulloepithelioma"]],[268145,"Classic maple syrup urine disease",["Classic BCKD deficiency","Classic MSUD","Classic branched-chain alpha-ketoacid dehydrogenase deficiency","Classic branched-chain ketoaciduria"]],[268162,"Intermediate maple syrup urine disease",["Intermediate BCKD deficiency","Intermediate MSUD","Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency"]],[268173,"Intermittent maple syrup urine disease",["Intermittent BCKD deficiency","Intermittent MSUD","Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency"]],[268184,"Thiamine-responsive maple syrup urine disease",["Thiamine-responsive BCKD deficiency","Thiamine-responsive MSUD","Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency"]],[268249,"Mycophenolate mofetil embryopathy",["MMF embryopathy"]],[268261,"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion",["21q22.13q22.2 microdeletion syndrome","Del(21)(q22.13q22.2)","Monosomy 21q22.13q22.2"]],[268316,"Complication in hemodialysis"],[268322,"Hereditary isolated thrombocytopenia with normal platelets size"],[268337,"Autosomal recessive intermediate Charcot-Marie-Tooth disease",["RI-CMT"]],[268357,"Neural tube closure defect"],[268363,"Open iniencephaly"],[268366,"Closed iniencephaly"],[268369,"Open spinal dysraphism",["Open spina bifida","Spina bifida aperta"]],[268377,"OBSOLETE: Total spina bifida aperta"],[268384,"OBSOLETE: Thoracolumbosacral spina bifida aperta"],[268388,"OBSOLETE: Lumbosacral spina bifida aperta"],[268392,"OBSOLETE: Cervical spina bifida aperta"],[268397,"OBSOLETE: Cervicothoracic spina bifida aperta"],[268740,"OBSOLETE: Upper thoracic spina bifida aperta"],[268744,"Spinal dysraphism with a posterior meningocele",["Spina bifida cystica"]],[268748,"OBSOLETE: Total spina bifida cystica"],[268752,"OBSOLETE: Thoracolumbosacral spina bifida cystica"],[268758,"OBSOLETE: Lumbosacral spina bifida cystica"],[268762,"OBSOLETE: Cervical spina bifida cystica"],[268766,"OBSOLETE: Cervicothoracic spina bifida cystica"],[268770,"OBSOLETE: Upper thoracic spina bifida cystica"],[268810,"Isolated posterior meningocele"],[268813,"Myelocystocele"],[268817,"Cephalocele"],[268820,"Cranial meningocele"],[268823,"Occipital encephalocele"],[268826,"Parietal encephalocele"],[268829,"Basal encephalocele"],[268832,"OBSOLETE: Lipoma associated with neurospinal dysraphism"],[268835,"Lipomyelomeningocele"],[268838,"OBSOLETE: Leptomyelolipoma"],[268843,"Malformation of the neurenteric canal, spinal cord and column"],[268861,"Primary tethered cord syndrome",["Primary tethered spinal cord syndrome"]],[268865,"Neurenteric cyst"],[268868,"Isolated amyelia"],[268871,"OBSOLETE: Primary syringomyelia/hydromyelia"],[268874,"OBSOLETE: Congenital hydromyelia"],[268882,"Arnold-Chiari malformation type I",["Chiari malformation type 1","Chiari malformation type I","Arnold-Chiari malformation type 1"]],[268920,"OBSOLETE: Isolated megalencephaly",["OBSOLETE: Isolated macrencephaly"]],[268926,"Midline cerebral malformation",["Midline brain malformation"]],[268936,"Isolated arhinencephaly"],[268940,"Bilateral polymicrogyria"],[268943,"Unilateral polymicrogyria"],[268947,"Unilateral focal polymicrogyria"],[268950,"Cerebral cortical dysplasia",["Brain cortical dysplasia"]],[268961,"Isolated focal cortical dysplasia type I",["FCD type I"]],[268973,"Isolated focal cortical dysplasia type Ia",["FCD type Ia"]],[268980,"Isolated focal cortical dysplasia type Ib",["FCD type Ib"]],[268987,"Isolated focal cortical dysplasia type Ic",["FCD type Ic"]],[268994,"Isolated focal cortical dysplasia type II",["Cortical dysplasia, Taylor type","FCD type II","Isolated focal cortical dysplasia type 2"]],[269001,"Isolated focal cortical dysplasia type IIa",["FCD type IIa"]],[269008,"Isolated focal cortical dysplasia type IIb",["FCD type IIb"]],[269190,"Encephaloclastic disorder"],[269194,"Central nervous system cystic malformation"],[269197,"Glioependymal/ependymal cyst"],[269200,"OBSOLETE: Retrocerebellar cyst"],[269203,"Isolated cerebellar vermis agenesis"],[269206,"Isolated total cerebellar vermis agenesis"],[269209,"Isolated partial cerebellar vermis agenesis"],[269212,"OBSOLETE: Isolated Dandy-Walker malformation with hydrocephalus"],[269215,"OBSOLETE: Isolated Dandy-Walker malformation without hydrocephalus"],[269218,"Isolated unilateral hemispheric cerebellar hypoplasia/dysplasia"],[269221,"Isolated bilateral hemispheric cerebellar hypoplasia"],[269224,"Global cerebellar malformation",["Diffuse cerebellar malformation"]],[269229,"Pontine tegmental cap dysplasia",["PTCD"]],[269505,"Congenital communicating hydrocephalus",["Congenital non-obstructive hydrocephalus"]],[269510,"Congenital non-communicating hydrocephalus",["Congenital obstructive hydrocephalus"]],[269523,"Syndrome with a cerebellar malformation as a major feature"],[269528,"Syndrome with microcephaly as a major feature"],[269531,"Other syndrome with a central nervous system malformation as a major feature"],[269546,"Syndrome with a Dandy-Walker malformation as a major feature"],[269550,"OBSOLETE: Genetic non-syndromic central nervous system malformation"],[269553,"Genetic cerebral malformation",["Genetic brain malformation"]],[269557,"OBSOLETE: Genetic posterior fossa malformation"],[269560,"Genetic cerebellar malformation"],[269564,"Genetic syndrome with a central nervous system malformation as a major feature",["Genetic syndrome with a CNS malformation as major feature"]],[269567,"Genetic syndrome with a cerebellar malformation as a major feature"],[269570,"Genetic syndrome with a Dandy-Walker malformation as a major feature"],[269573,"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature"],[271832,"Genetic soft tissue tumor",["Genetic mesenchymal tumor"]],[271835,"Genetic digestive tract tumor"],[271841,"Genetic cardiac tumor"],[271844,"Genetic urogenital tumor"],[271847,"Genetic neuroendocrine tumor"],[271853,"Genetic cardiac anomaly"],[271861,"Hereditary ATTR amyloidosis",["ATTRv amyloidosis","Familial TTR-related amyloidosis","Familial transthyretin-related amyloidosis","Hereditary TTR amyloid polyneuropathy","Hereditary TTR amyloidosis","Hereditary transthyretin amyloid polyneuropathy","hATTR"]],[271870,"Rare genetic systemic or rheumatologic disease"],[275517,"Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency",["ALPS-recurrent viral infections due to CASP8 deficiency","Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency","CEDS","Caspase 8 deficiency syndrome"]],[275523,"Dianzani autoimmune lymphoproliferative disease",["DALD"]],[275534,"OBSOLETE: Myostatin-related muscle hypertrophy"],[275543,"L1 syndrome",["CRASH syndrome","Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome","L1CAM syndrome"]],[275555,"Preeclampsia"],[275729,"Rare hemorrhagic disorder due to a constitutional thrombocytopenia",["Rare bleeding disorder due to a constitutional thrombocytopenia","Rare bleeding disorder due to a quantitative platelet defect","Rare coagulopathy due to a constitutional thrombocytopenia","Rare coagulopathy due to a quantitative platelet defect","Rare hemorrhagic disorder due to a quantitative platelet defect"]],[275736,"Rare hemorrhagic disorder due to a qualitative platelet defect",["Rare bleeding disorder due to a constitutional thrombopathy","Rare bleeding disorder due to a qualitative platelet defect","Rare coagulopathy due to a constitutional thrombopathy","Rare coagulopathy due to a qualitative platelet defect","Rare hemorrhagic disorder due to a constitutional thrombopathy"]],[275742,"Genetic infertility"],[275745,"Alpha-thalassemia and related disorders"],[275749,"Beta-thalassemia and related disorders"],[275752,"Sickle cell disease"],[275761,"Lysosomal acid lipase deficiency",["LAL deficiency","LALD"]],[275766,"Idiopathic pulmonary arterial hypertension",["IPAH","Primary pulmonary arterial hypertension"]],[275777,"Heritable pulmonary arterial hypertension",["FPAH","Familial pulmonary arterial hypertension","HPAH","Hereditary pulmonary arterial hypertension"]],[275786,"Drug- or toxin-induced pulmonary arterial hypertension",["Drug- or toxin-induced PAH"]],[275791,"Pulmonary arterial hypertension associated with another disease",["PAH associated with another disease","Secondary PAH"]],[275798,"Pulmonary arterial hypertension associated with connective tissue disease",["PAH associated with connective tissue disease"]],[275803,"Pulmonary arterial hypertension associated with congenital heart disease",["PAH associated with congenital heart disease"]],[275808,"Pulmonary arterial hypertension associated with HIV infection",["PAH associated with HIV infaction"]],[275813,"Pulmonary arterial hypertension associated with portal hypertension",["PAH associated with portal hypertension","POPH","Portopulmonary hypertension"]],[275823,"Pulmonary arterial hypertension associated with schistosomiasis",["PAH associated with schistosomiasis"]],[275828,"Pulmonary arterial hypertension associated with chronic hemolytic anemia",["PAH associated with chronic hemolytic anemia"]],[275837,"Pulmonary hypertension owing to lung disease and/or hypoxia",["PH due to lung disease and/or hypoxia","PH owing to lung disease and/or hypoxia","Pulmonary hypertension due to lung disease and/or hypoxia"]],[275844,"Pulmonary hypertension with unclear multifactorial mechanism",["PH with unclear multifactorial mechanism"]],[275853,"Syndrome with pulmonary hypertension as a major feature"],[275864,"Behavioral variant of frontotemporal dementia",["bv-FTD"]],[275872,"Frontotemporal dementia with motor neuron disease",["FTD-ALS","FTD-MND","Frontotemporal dementia with amyotrophic lateral sclerosis"]],[275938,"Hemolytic disease due to fetomaternal alloimmunization",["HDFN","Hemolytic disease of the fetus and newborn"]],[275944,"Hemolytic disease of the newborn with Kell alloimmunization",["Anti-K HDN","Maternal anti-Kell alloimmunization"]],[276058,"Genetic neurodegenerative disease with dementia"],[276061,"Genetic frontotemporal degeneration with dementia"],[276066,"Bile acid CoA ligase deficiency and defective amidation"],[276142,"Rare tumor of salivary glands"],[276145,"Malignant epithelial tumor of salivary glands"],[276148,"Benign epithelial tumor of salivary glands"],[276152,"Multiple endocrine neoplasia type 4",["MEN4"]],[276161,"Multiple endocrine neoplasia",["MEN"]],[276174,"Idiopathic recurrent stupor"],[276183,"Spinocerebellar ataxia type 32",["Cerebellar ataxia with azoospermia and intellectual disability","SCA32"]],[276193,"Spinocerebellar ataxia type 35",["SCA35"]],[276198,"Spinocerebellar ataxia type 36",["Asidan","SCA36"]],[276212,"Mucopolysaccharidosis type 6, rapidly progressing",["Arylsulfatase B deficiency, rapidly progressing","MPS6, rapidly progressing","MPSVI, rapidly progressing","Mucopolysaccharidosis type VI, rapidly progressing"]],[276223,"Mucopolysaccharidosis type 6, slowly progressing",["Arylsulfatase B deficiency, slowly progressing","MPS6, slowly progressing","MPSVI, slowly progressing","Mucopolysaccharidosis type VI, slowly progressing"]],[276234,"Non-syndromic male infertility due to sperm motility disorder",["Non-syndromic male infertility due asthenozoospermia"]],[276238,"Machado-Joseph disease type 1",["SCA3, Joseph type","Spinocerebellar ataxia type 3, Joseph type"]],[276241,"Machado-Joseph disease type 2",["SCA3, Thomas type","Spinocerebellar ataxia, Thomas type"]],[276244,"Machado-Joseph disease type 3",["SCA3, Machado type","Spinocerebellar ataxia type 3, Machado type"]],[276249,"OBSOLETE: Xeroderma pigmentosum complementation group A",["OBSOLETE: XPA"]],[276252,"OBSOLETE: Xeroderma pigmentosum complementation group B",["OBSOLETE: XPB"]],[276255,"OBSOLETE: Xeroderma pigmentosum complementation group C",["OBSOLETE: XPC"]],[276258,"OBSOLETE: Xeroderma pigmentosum complementation group D",["OBSOLETE: XPD"]],[276261,"OBSOLETE: Xeroderma pigmentosum complementation group E",["OBSOLETE: XPE"]],[276264,"OBSOLETE: Xeroderma pigmentosum complementation group F",["OBSOLETE: XPF"]],[276267,"OBSOLETE: Xeroderma pigmentosum complementation group G",["OBSOLETE: XPG"]],[276271,"NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia",["NON RARE IN EUROPE: Analbuminemia","NON RARE IN EUROPE: Bisalbuminemia","NON RARE IN EUROPE: FDH"]],[276280,"Hemihyperplasia-multiple lipomatosis syndrome",["HHML"]],[276399,"Familial multinodular goiter",["FMNG","Familial MNG","Familial multinodular goiter syndrome"]],[276402,"OBSOLETE: Limbic encephalitis with caspr2 antibodies"],[276405,"Hyperbiliverdinemia",["Green jaundice"]],[276413,"10q22.3q23.3 microdeletion syndrome",["Del(10)(q22.3q23.3)","Deletion 10q22.3q23.3","Monosomy 10q22.3q23.3"]],[276422,"10q22.3q23.3 microduplication syndrome",["Dup(10)(q22.3q23.3)","Trisomy 10q22.3q23.3"]],[276429,"Hypnic headache"],[276432,"Ogden syndrome",["Premature aging appearance-developmental delay-cardiac arrhythmia syndrome"]],[276435,"Lower motor neuron syndrome with late-adult onset",["LOSMoN","Late-onset spinal motor neuronopathy","SMAJ","Spinal muscular atrophy, Jokela type"]],[276525,"Familial hyperinsulinism",["FHI","Familial hyperinsulinemic hypoglycemia"]],[276556,"Hyperinsulinism due to UCP2 deficiency",["Hyperinsulinemic hypoglycemia due to UCP2 deficiency"]],[276575,"Autosomal dominant hyperinsulinism due to SUR1 deficiency",["Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency"]],[276580,"Autosomal dominant hyperinsulinism due to Kir6.2 deficiency",["Dominant KATP hyperinsulinism due to Kir6.2 deficiency","Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"]],[276585,"Diazoxide-resistant hyperinsulinism",["Diazoxide-resistant hyperinsulinemic hypoglycemia"]],[276598,"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency",["Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form"]],[276603,"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency",["Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form"]],[276608,"Non-insulinoma pancreatogenous hypoglycemia syndrome",["NIPHS"]],[276621,"Sporadic pheochromocytoma/secreting paraganglioma"],[276624,"OBSOLETE: Sporadic pheochromocytoma"],[276627,"OBSOLETE: Sporadic secreting paraganglioma"],[276630,"Symptomatic form of Coffin-Lowry syndrome in female carriers"],[279882,"Spasmus nutans"],[279888,"Acute endophthalmitis"],[279891,"Chronic endophthalmitis"],[279894,"Toxic maculopathy due to antimalarial drugs"],[279897,"Primary oculocerebral lymphoma",["Primary oculocerebral non-Hodgkin lymphoma"]],[279904,"OBSOLETE: Primary intraocular lymphoma",["OBSOLETE: PIOL","OBSOLETE: Primary intraocular non-Hodgkin lymphoma","OBSOLETE: Primary vitreoretinal large B-cell lymphoma"]],[279911,"Primary organ-specific lymphoma"],[279914,"Intermediate uveitis",["IU"]],[279919,"Infectious posterior uveitis"],[279922,"Infectious anterior uveitis"],[279925,"Infectious panuveitis"],[279928,"Paraneoplastic uveitis"],[279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"],[279943,"Hereditary neutrophilia"],[279947,"Postorgasmic illness syndrome",["POIS"]],[280062,"Calciphylaxis"],[280065,"Calciphylaxis cutis"],[280068,"Visceral calciphylaxis"],[280071,"ALG11-CDG",["CDG syndrome type Ip","CDG-Ip","CDG1P","Carbohydrate deficient glycoprotein syndrome type Ip","Congenital disorder of glycosylation type 1p","Congenital disorder of glycosylation type Ip"]],[280110,"NON RARE IN EUROPE: Paget disease of bone",["NON RARE IN EUROPE: Osteitis deformans"]],[280133,"Complement component 3 deficiency",["C3 deficiency"]],[280142,"Combined immunodeficiency due to LCK deficiency",["CID due to LCK deficiency","CID due to lymphocyte-specific protein tyrosine kinase deficiency","Combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"]],[280183,"Methylmalonic aciduria due to transcobalamin receptor defect",["Methylmalonic acidemia, TCb1R type","Methylmalonic acidemia, TCbIR type"]],[280195,"Septopreoptic holoprosencephaly",["Septopreoptic HPE"]],[280200,"Microform holoprosencephaly",["HPE, minor form","HPE-L","Holoprosencephaly, minor form","Holoprosencephaly-like","Microform HPE"]],[280205,"Laryngotracheoesophageal cleft type 0",["LTEC0","Laryngo-tracheo-esophageal cleft type 0"]],[280210,"Pelizaeus-Merzbacher disease, connatal form",["Connatal PMD","Pelizaeus-Merzbacher disease type II","Severe PMD"]],[280219,"Pelizaeus-Merzbacher disease, classic form",["Classic PMD"]],[280224,"Pelizaeus-Merzbacher disease, transitional form",["Transitional PMD"]],[280229,"Pelizaeus-Merzbacher disease in female carriers"],[280234,"Null syndrome",["PLP1 null syndrome","Pelizaeus-Merzbacher disease, null syndrome"]],[280270,"Pelizaeus-Merzbacher-like disease",["PMLD"]],[280282,"Pelizaeus-Merzbacher-like disease due to GJC2 mutation",["PMLD1"]],[280288,"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation",["Mitochondrial HSP60 chaperonopathy"]],[280293,"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"],[280302,"Autoimmune pancreatitis type 1",["AIP type 1","IgG4-related pancreatitis","Lymphoplasmacytic sclerosing pancreatitis"]],[280315,"Autoimmune pancreatitis type 2",["AIP type 2","Duct-centric pancreatitis"]],[280325,"Distal deletion 12p syndrome",["12p13.33 microdeletion syndrome","Del(12)(p13.33)","Distal monosomy 12p"]],[280333,"Alpha-dystroglycan-related limb-girdle muscular dystrophy R16",["Alpha-dystroglycan-related LGMD R16","Autosomal recessive limb-girdle muscular dystrophy type 2P","LGMD type 2P","LGMD2P","Limb-girdle muscular dystrophy type 2P"]],[280342,"Rare systemic or rheumatological disease of childhood"],[280356,"PLIN1-related familial partial lipodystrophy",["FPLD4","PLIN1-related FPLD"]],[280365,"Autosomal semi-dominant severe lipodystrophic laminopathy"],[280369,"Rare pediatric vasculitis"],[280373,"Rare pediatric systemic disease"],[280379,"Erythropoietic uroporphyria associated with myeloid malignancy"],[280384,"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome",["IDMDC"]],[280397,"Familial Alzheimer-like prion disease"],[280400,"Inherited human prion disease",["Familial prion disease","Genetic human prion disease"]],[280403,"Familial omphalocele syndrome with facial dysmorphism"],[280406,"Familial steroid-resistant nephrotic syndrome with sensorineural deafness",["Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss"]],[280553,"Fatal infantile hypertonic myofibrillar myopathy"],[280558,"Warsaw breakage syndrome",["WABS"]],[280569,"OBSOLETE: Rapidly progressive glomerulonephritis",["OBSOLETE: Crescentic glomerulonephritis","OBSOLETE: RPGN"]],[280576,"Nestor-Guillermo progeria syndrome",["NGPS"]],[280586,"Chondrodysplasia with joint dislocations, gPAPP type",["gPAPP deficiency"]],[280598,"Hereditary sensorimotor neuropathy with hyperelastic skin"],[280615,"Low oxygen affinity gamma chain hemoglobin disease"],[280620,"Progressive myoclonic epilepsy type 6",["EPM6","GOSR2-related progressive myoclonus ataxia","North Sea progressive myoclonus epilepsy","PME type 6","Progressive myoclonus epilepsy type 6"]],[280628,"Familial progressive hyper- and hypopigmentation",["FPHH"]],[280633,"Multiple congenital anomalies-hypotonia-seizures syndrome",["Congenital disorder of glycosylation due to PIGN deficiency","PIGN-CDG"]],[280640,"Occipital pachygyria and polymicrogyria",["Occipital MCD","Occipital malformations of cortical development"]],[280651,"OBSOLETE: Acrodysostosis with multiple hormone resistance"],[280654,"Autosomal recessive nail dysplasia"],[280663,"Hermansky-Pudlak syndrome type 9",["HPS9"]],[280671,"Megaconial congenital muscular dystrophy",["Congenital megaconial myopathy","Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect","Congenital muscular dystrophy with mitochondrial structural abnormalities"]],[280679,"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome",["Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism"]],[280763,"Severe intellectual disability and progressive spastic paraplegia",["AP-4 associated hereditary spastic paraplegia","AP4 deficiency syndrome"]],[280774,"Generalized essential telangiectasia",["GET"]],[280779,"Cutaneous collagenous vasculopathy",["CCV"]],[280785,"Bullous diffuse cutaneous mastocytosis",["Bullous DCM"]],[280794,"Pseudoxanthomatous diffuse cutaneous mastocytosis",["Infiltrative small vesicular DCM","Infiltrative small vesicular diffuse cutaneous mastocytosis","Pseudoxanthomatous DCM"]],[280802,"Intralobar congenital pulmonary sequestration",["Congenital intrapulmonary sequestration","Intralobar congenital bronchopulmonary sequestration"]],[280811,"Extralobar congenital pulmonary sequestration",["Congenital extrapulmonary sequestration","Extralobar congenital bronchopulmonary sequestration"]],[280821,"Communicating congenital bronchopulmonary-foregut malformation"],[280827,"Congenital pulmonary airway malformation type 0",["CPAM type 0","Congenital cystic adenomatoid malformation of the lung type 0","Congenital cystic adenomatous malformation of the lung type 0"]],[280832,"Congenital pulmonary airway malformation type 1",["CCAM type 1","CPAM type 1","Congenital cystic adenomatoid malformation of the lung type 1","Congenital cystic adenomatous malformation of the lung type 1","Congenital cystic disease of the lung type 1"]],[280840,"Congenital pulmonary airway malformation type 2",["CCAM type 2","CPAM type 2","Congenital cystic adenomatoid malformation of the lung type 2","Congenital cystic adenomatous malformation of the lung type 2","Congenital cystic disease of the lung type 2"]],[280847,"Congenital pulmonary airway malformation type 3",["CCAM type 3","CPAM type 3","Congenital cystic adenomatoid malformation of the lung type 3","Congenital cystic adenomatous malformation of the lung type 3","Congenital cystic disease of the lung type 3"]],[280854,"Congenital pulmonary airway malformation type 4",["CPAM type 4","Congenital cystic adenomatoid malformation of the lung type 4","Congenital cystic adenomatous malformation of the lung type 4"]],[280886,"Anterior uveitis",["Iridocyclitis"]],[280892,"Posterior uveitis",["Choroiditis"]],[280898,"Panuveitis",["Total uveitis"]],[280914,"Isolated idiopathic anterior uveitis",["Isolated IAU"]],[280917,"Idiopathic posterior uveitis"],[280921,"Idiopathic panuveitis"],[280926,"Systemic diseases with anterior uveitis"],[280930,"Systemic diseases with posterior uveitis"],[280933,"Systemic diseases with panuveitis"],[281082,"Inherited non-syndromic ichthyosis"],[281085,"Inherited ichthyosis syndromic form"],[281090,"Syndromic recessive X-linked ichthyosis",["Recessive X-linked ichthyosis with extracutaneous manifestations","Syndromic RXLI"]],[281097,"Autosomal recessive congenital ichthyosis",["ARCI"]],[281103,"Keratinopathic ichthyosis",["KPI"]],[281122,"Self-improving collodion baby",["SHCB","SICI","Self-healing collodion baby","Self-improving congenital ichthyosis"]],[281127,"Acral self-healing collodion baby",["Acral SHCB"]],[281139,"Annular epidermolytic ichthyosis",["AEI"]],[281190,"Congenital reticular ichthyosiform erythroderma",["CRIE","IWC","Ichthyosis variegata","Ichthyosis with confetti"]],[281201,"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome",["KLICK syndrome"]],[281210,"X-linked ichthyosis syndrome"],[281217,"Autosomal ichthyosis syndrome"],[281222,"Autosomal ichthyosis syndrome with prominent hair abnormalities"],[281234,"OBSOLETE: Congenital ichthyosis with trichothiodystrophy"],[281238,"Autosomal ichthyosis syndrome with prominent neurologic signs"],[281241,"Autosomal ichthyosis syndrome with fatal disease course"],[281244,"Autosomal ichthyosis syndrome with other associated signs"],[282124,"Partial deletion of chromosome 12 syndrome",["Partial monosomy of chromosome 12"]],[282166,"Inherited Creutzfeldt-Jakob disease",["Inherited CJD"]],[282196,"Autoimmune polyendocrinopathy",["APS","Autoimmune polyglandular syndrome"]],[284130,"NON RARE IN EUROPE: Rheumatoid arthritis"],[284139,"Larsen-like syndrome, B3GAT3 type",["Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"]],[284149,"Craniosynostosis-dental anomalies",["Kreiborg-Pakistani syndrome"]],[284160,"8q21.11 microdeletion syndrome",["Del(8)(q21.11)","Deletion 8q21.11","Monosomy 8q21.11"]],[284169,"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion",["10p12p11 microdeletion syndrome","Del(10)(p11.21p12.31)","Deletion 10p11.21p12.31","Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion","Monosomy 10p11.21p12.31"]],[284180,"Xp22.13p22.2 duplication syndrome",["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplication Xp22"]],[284227,"TEMPI syndrome",["Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome"]],[284232,"Autosomal dominant Charcot-Marie-Tooth disease type 2O",["CMT2O"]],[284247,"Familial retinal arterial macroaneurysm",["FRAM","Retinal arterial macroaneurysm and supravalvular pulmonic stenosis"]],[284264,"IgG4-related disease",["IgG4-related sclerosing disease","Immunoglobulin G4-related sclerosing disease"]],[284271,"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome",["Autosomal recessive spinocerebellar ataxia type 11","SCAR11"]],[284282,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency",["Autosomal recessive spinocerebellar ataxia type 12","SCAR12"]],[284289,"Adult-onset autosomal recessive cerebellar ataxia",["Autosomal recessive spinocerebellar ataxia type 10","SCAR10"]],[284324,"Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia",["Autosomal recessive spinocerebellar ataxia type 7","SCAR7"]],[284332,"Infantile-onset autosomal recessive nonprogressive cerebellar ataxia",["Autosomal recessive spinocerebellar ataxia type 6","SCAR6"]],[284339,"Pontocerebellar hypoplasia type 7",["PCH7","Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome"]],[284343,"DICER1 tumor-predisposition syndrome",["PPB familial tumor and dysplasia syndrome","PPBFTDS","Pleuropulmonary blastoma familial tumor and dysplasia syndrome"]],[284362,"Fetal lung interstitial tumor",["FLIT","Immature interstitial mesenchymal tumor"]],[284385,"Familial intrahepatic cholestasis"],[284388,"Reversible cerebral vasoconstriction syndrome",["RCVS"]],[284395,"Well-differentiated fetal adenocarcinoma of the lung",["WDFA"]],[284400,"Small cell carcinoma of the bladder",["Poorly differentiated neuroendocrine carcinoma of the bladder","SCCB","Small cell bladder cancer","Small cell bladder carcinoma","Small cell carcinoma of the urinary bladder"]],[284408,"OBSOLETE: Glycerol kinase deficiency, infantile form"],[284411,"Glycerol kinase deficiency, juvenile form"],[284414,"Glycerol kinase deficiency, adult form"],[284417,"Phosphoserine aminotransferase deficiency, infantile/juvenile form",["PSAT deficiency, infantile/juvenile form"]],[284426,"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency",["GSD due to lactate dehydrogenase M-subunit deficiency","Glycogenosis due to lactate dehydrogenase M-subunit deficiency","LDH-M subunit deficiency","Lactate dehydrogenase A deficiency"]],[284435,"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency",["GSD due to lactate dehydrogenase H-subunit deficiency","Glycogenosis due to lactate dehydrogenase H-subunit deficiency","LDH-H subunit deficiency","Lactate dehydrogenase B deficiency"]],[284448,"CLIPPERS",["Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids"]],[284454,"Acute zonal occult outer retinopathy",["AZOOR"]],[284460,"Acute annular outer retinopathy",["AAOR"]],[284786,"Qualitative or quantitative defects of troponin"],[284790,"Qualitative or quantitative defects of tropomyosin"],[284804,"Ocular albinism"],[284811,"Syndromic oculocutaneous albinism"],[284814,"Disorder of phenylalanine metabolism"],[284818,"Disorder of tyrosine metabolism"],[284963,"Marfan syndrome type 1",["MFS1"]],[284973,"Marfan syndrome type 2",["MFS2"]],[284979,"Neonatal Marfan syndrome",["Neonatal MFS"]],[284984,"Aneurysm-osteoarthritis syndrome"],[284993,"Marfan syndrome and Marfan-related disorders"],[285014,"Rare disease with thoracic aortic aneurysm and aortic dissection"],[285657,"Disorder of folate metabolism and transport"],[289098,"Disorders of vitamin D metabolism"],[289103,"Hypocalcemic rickets"],[289157,"Hypocalcemic vitamin D-dependent rickets",["1-alpha-hydroxylase deficiency","PDDRI","Pseudovitamin D-deficient rickets","VDDI","VDDR-I","Vitamin D dependent rickets type I","Vitamin D-dependency type I"]],[289176,"Autosomal recessive hypophosphatemic rickets",["ARHR"]],[289266,"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"],[289290,"Hypermethioninemia encephalopathy due to adenosine kinase deficiency",["ADK hypermethioninemia","Hypermethioninemia encephalopathy due to ADK deficiency"]],[289307,"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency",["Developmental delay due to ALDH6A1 deficiency","Developmental delay due to MMSDH deficiency"]],[289326,"Tropical spastic paraparesis",["HAM/TSP","HTLV-1-associated myelopathy/tropical spastic paraparesis","Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis","Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis","TSP"]],[289347,"Infective dermatitis associated with HTLV-1",["IDH","Infective dermatitis associated with human T-lymphotropic virus type 1","Infective dermatitis associated with human T-lymphotropic virus type I"]],[289356,"Primary non-gestational choriocarcinoma of ovary",["NGCO","Primary non-gestational ovarian choriocarcinoma"]],[289362,"Non-central nervous system-localized embryonal carcinoma",["Non-CNS-localized embryonal carcinoma"]],[289365,"Familial vesicoureteral reflux",["Familial VUR"]],[289377,"Early-onset myopathy with fatal cardiomyopathy",["EOMFC","Salih myopathy"]],[289380,"Myosclerosis",["Congenital myosclerosis, Löwenthal type"]],[289385,"Malignancy diagnosed during pregnancy",["Cancer diagnosed during pregnancy"]],[289390,"Primary Sjögren disease",["Primary SjD","Primary Sjögren syndrome"]],[289395,"NON RARE IN EUROPE: Secondary Sjögren syndrome",["NON RARE IN EUROPE: Secondary Sjögren-Gougerot syndrome"]],[289465,"Isolated congenital adermatoglyphia",["Congenital absence of fingerprints","Immigration delay disease"]],[289478,"PASH syndrome",["Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"]],[289483,"Intellectual disability-alacrima-achalasia syndrome"],[289494,"4H leukodystrophy",["POLR-related leukodystrophy"]],[289499,"Congenital cataract microcornea with corneal opacity",["CCMCO"]],[289504,"Combined malonic and methylmalonic acidemia",["CMAMMA","Combined malonic and methylmalonic aciduria"]],[289513,"12q15q21 microdeletion syndrome",["Del(12)(q15)(q21)","Deletion 12q15q21","Monosomy 12q15q21"]],[289522,"Microtriplication 11q24.1 syndrome",["Tetrasomy 11q24.1"]],[289527,"OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency",["OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency","OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency","OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency"]],[289539,"BAP1-related tumor predisposition syndrome",["Tumor susceptibility linked to germline BAP1 mutations"]],[289548,"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"],[289553,"Dysmorphism-conductive hearing loss-heart defect syndrome"],[289560,"Mitochondrial membrane protein-associated neurodegeneration",["MPAN","NBIA due to C19orf12 mutation","NBIA4","Neurodegeneration with brain iron accumulation due to C19orf12 mutation","Neurodegeneration with brain iron accumulation type 4"]],[289573,"Multiple mitochondrial dysfunctions syndrome"],[289586,"Exfoliative ichthyosis",["Autosomal recessive exfoliative ichthyosis","Ichthyosis exfoliativa"]],[289596,"Juvenile nasopharyngeal angiofibroma",["JNA"]],[289601,"Hereditary arterial and articular multiple calcification syndrome",["CALJA","Calcification of joints and arteries"]],[289635,"Rare virus associated tumor"],[289638,"Epstein-Barr Virus-related tumor",["EBV-related tumor"]],[289644,"Epstein-Barr virus-associated malignant lymphoproliferative disorder",["EBV-associated lymphoproliferative disorder"]],[289651,"Epstein-Barr Virus-associated carcinoma",["EBV-associated carcinoma"]],[289656,"Epstein-Barr Virus-associated mesenchymal tumor",["EBV-associated mesenchymal tumor"]],[289661,"Epstein-Barr virus-positive diffuse large B-cell lymphoma",["EBV-positive DLBCL","Epstein-Barr virus-positive diffuse large B-cell lymphoma not otherwise specified","Epstein-Barr virus-positive diffuse large B-cell lymphoma, NOS"]],[289666,"Plasmablastic lymphoma",["PBL"]],[289682,"Lymphoepithelial-like carcinoma"],[289685,"Myopericytoma"],[289825,"Late-onset primary lymphedema without systemic or visceral involvement"],[289829,"Disorder of tryptophan metabolism"],[289832,"Disorder of lysine and hydroxylysine metabolism"],[289841,"Disorder of glutamine metabolism"],[289846,"Glutathione synthetase deficiency with 5-oxoprolinuria"],[289849,"Glutathione synthetase deficiency without 5-oxoprolinuria"],[289857,"Neonatal glycine encephalopathy",["Classic glycine encephalopathy","Neonatal NKH","Neonatal non-ketotic hyperglycinemia"]],[289860,"Infantile glycine encephalopathy",["Infantile NKH","Infantile non-ketotic hyperglycinemia"]],[289863,"Atypical glycine encephalopathy",["Atypical non-ketotic hyperglycinemia","Atypical NKA"]],[289866,"Disorder of proline metabolism"],[289869,"Disorder of ornithine metabolism"],[289877,"Transient hyperammonemia of the newborn"],[289891,"Hypermethioninemia due to glycine N-methyltransferase deficiency",["Glycine N-methyltransferase deficiency","Hypermethioninemia due to GNMT deficiency"]],[289899,"Organic aciduria"],[289902,"3-methylglutaconic aciduria"],[289916,"Vitamin B12-unresponsive methylmalonic acidemia type mut0",["Complete deficiency of methylmalonyl-CoA mutase","Vitamin B12-unresponsive methylmalonic aciduria type mut0"]],[290836,"Systemic disease with skin involvement"],[290839,"Autoinflammatory syndrome with immune deficiency"],[290842,"Autoinflammatory syndrome with skin involvement"],[290849,"Rare head and neck tumor"],[293144,"Familial clubfoot due to 5q31 microdeletion",["Hereditary clubfoot due to 5q31 microdeletion"]],[293150,"Familial clubfoot due to PITX1 point mutation",["Hereditary clubfoot due to PITX1 point mutation"]],[293165,"Skin fragility-woolly hair-palmoplantar keratoderma syndrome",["Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome"]],[293168,"Infantile-onset ascending hereditary spastic paralysis",["IAHSP"]],[293173,"Acute generalized exanthematous pustulosis",["AGEP","Pustular drug eruption","Toxic pustuloderma"]],[293181,"Epilepsy of infancy with migrating focal seizures",["EIMFS","Epilepsy with migrating focal seizure in infancy","MMPEI","MMPSI","MPEI","MPSI","Malignant migrating partial epilepsy of infancy","Malignant migrating partial seizures of infancy","Migrating partial epilepsy of infancy","Migrating partial seizures of infancy"]],[293190,"OBSOLETE: Pleomorphic undifferentiated sarcoma"],[293199,"Pleomorphic rhabdomyosarcoma"],[293202,"Epithelioid sarcoma"],[293208,"Celiac artery compression syndrome",["Dunbar syndrome","MALS","Median arcuate ligament syndrome"]],[293284,"Tetrahydrobiopterin-responsive phenylketonuria",["BH4-responsive PKU","BH4-responsive phenylketonuria","Tetrahydrobiopterin-responsive PKU"]],[293355,"Methylmalonic acidemia without homocystinuria",["Methylmalonic aciduria without homocystinuria"]],[293375,"Grayson-Wilbrandt corneal dystrophy",["GWCD"]],[293381,"Epithelial recurrent erosion dystrophy",["Dystrophia Helsinglandica","Dystrophia Smolandiensis","ERED","Recurrent hereditary corneal erosions"]],[293462,"Pre-Descemet corneal dystrophy",["PDCD"]],[293603,"Congenital hereditary endothelial dystrophy type II",["Autosomal recessive CHED","Autosomal recessive congenital hereditary endothelial dystrophy","CHED2","CHEDII","Congenital hereditary endothelial dystrophy type 2","Infantile hereditary endothelial dystrophy","Maumenee corneal dystrophy"]],[293621,"X-linked endothelial corneal dystrophy",["XECD"]],[293633,"PYCR1-related De Barsy syndrome",["PYCR1 deficiency","Pyrroline-5-carboxylate reductase 1 deficiency"]],[293642,"Blepharophimosis-intellectual disability syndrome"],[293707,"Blepharophimosis-intellectual disability syndrome, MKB type",["BMRS, MKB type","BMRS, Maat-Kievit-Brunner type","Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type","X-linked Ohdo syndrome"]],[293725,"Blepharophimosis-intellectual disability syndrome, Verloes type",["BMRS type V","BMRS, Verloes type","Blepharophimosis-intellectual disability syndrome type V"]],[293807,"Ketamine-induced biliary dilatation"],[293812,"Fixed drug eruption"],[293815,"Toxic dermatosis"],[293822,"MITF-related melanoma and renal cell carcinoma predisposition syndrome"],[293825,"Autosomal dominant KLF1-related dyserythropoietic anemia",["Congenital dyserythropoietic anemia type IVa","Congenital dyserythropoietic anemia type 4a","CDA type IVa","CDA type 4a"]],[293830,"Constitutional dyserythropoietic anemia"],[293838,"Fatal infantile encephalopathy-pulmonary hypertension syndrome"],[293843,"3MC syndrome",["Craniofacial-ulnar-renal syndrome","Malpuech-Michels-Mingarelli-Carnevale syndrome"]],[293848,"Frontotemporal dementia, right temporal atrophy variant",["RTLA","rvFTD"]],[293864,"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"],[293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",["ALVC","Arrhythmogenic cardiomyopathy dominant-left variant","Arrhythmogenic cardiomyopathy with left ventricular involvement","Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form"]],[293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",["Familial isolated arrhythmogenic ventricular dysplasia, biventricular form"]],[293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",["Arrhythmogenic cardiomyopathy dominant-right variant","Arrhythmogenic cardiomyopathy with right ventricular involvement","Familial isolated arrhytmogenic ventricular dysplasia, right dominant form"]],[293925,"Lethal occipital encephalocele-skeletal dysplasia syndrome"],[293936,"EDICT syndrome",["Autosomal dominant keratoconus with early-onset anterior polar cataracts","Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome","Familial keratoconus with cataract","KTCNCT"]],[293939,"Distal Xq28 microduplication syndrome",["Distal dup(X)q(28)","Distal trisomy Xq28","Int22h1/Int22h2 mediated-Xq28 microduplication syndrome"]],[293948,"1p21.3 microdeletion syndrome",["Del(1)(p21.3)","Monosomy 1p21.3"]],[293955,"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"],[293958,"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome",["HPPD","Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome"]],[293964,"Hypoinsulinemic hypoglycemia and body hemihypertrophy"],[293967,"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome",["Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome"]],[293978,"Deficiency in anterior pituitary function-variable immunodeficiency syndrome",["DAVID syndrome"]],[293987,"Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome",["ROHHAD","ROHHADNET","Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome"]],[294016,"Microcephaly-capillary malformation syndrome",["MIC-CAP syndrome","MIC-CM syndrome","Microcephaly-cutaneous capillary malformation syndrome"]],[294023,"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome"],[294026,"Syndactyly-nystagmus syndrome due to 2q31.1 microduplication",["Syndactyly-nystagmus syndrome due to dup(2)(q31.1)","Syndactyly-nystagmus syndrome due to trisomy 2q31.1"]],[294049,"Reunion Island Larsen-like syndrome",["Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome"]],[294057,"Rare nevus"],[294060,"Multiple pterygium syndrome"],[294415,"Renal-hepatic-pancreatic dysplasia",["Ivemark II syndrome","Renohepaticopancreatic dysplasia"]],[294422,"Chronic intestinal failure",["CIF"]],[294925,"Non-syndromic amelia"],[294927,"Non-syndromic intercalary limb defects",["Non-syndromic intercalary meromelia"]],[294929,"OBSOLETE: Terminal limb defects",["OBSOLETE: Terminal meromelia"]],[294931,"OBSOLETE: Adactyly of hand",["OBSOLETE: Fingers absent"]],[294935,"OBSOLETE: Split hand or/and split foot malformation"],[294937,"OBSOLETE: Brachydactyly"],[294939,"OBSOLETE: Preaxial polydactyly of fingers",["OBSOLETE: Preaxial polydactyly of hand"]],[294942,"OBSOLETE: Postaxial polydactyly of fingers",["OBSOLETE: Postaxial polydactyly of hand"]],[294944,"Congenital deformities of limbs"],[294947,"Congenital deformities of fingers"],[294949,"Non-syndromic joint formation defects"],[294951,"Congenital joint dislocations"],[294953,"Non-syndromic limb overgrowth"],[294955,"Syndrome with limb reduction defects"],[294957,"Dysostosis with combined reduction defects of upper and lower limbs"],[294959,"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy"],[294961,"OBSOLETE: Syndromes with synostoses of limbs"],[294963,"Popliteal pterygium syndrome"],[294965,"Lethal congenital contracture syndrome",["LCCS"]],[294967,"Isolated amelia of upper limb",["Isolated congenital absence of upper limb"]],[294969,"Isolated amelia of lower limb",["Isolated congenital absence of lower limb"]],[294971,"Isolated tetra-amelia",["Isolated total amelia"]],[294973,"Isolated humeral agenesis/hypoplasia",["Isolated congenital absence of humerus","Isolated congenital humeral deficiency","Isolated congenital hypoplasia of humerus","Isolated humeral intercalary meromelia"]],[294975,"Isolated absence of upper arm and forearm with hand present",["Isolated congenital humero-radio-ulnar intercalary transverse meromelia"]],[294977,"Isolated absence of thigh and lower leg with foot present",["Isolated congenital femoro-tibio-fibular intercalary transverse meromelia"]],[294979,"Isolated absence of both forearm and hand",["Isolated congenital radio-ulnar terminal transverse meromelia"]],[294981,"Isolated absence of both lower leg and foot",["Isolated congenital tibiofibular terminal transverse meromelia"]],[294983,"Isolated acheiria",["Isolated congenital absence of hand"]],[294986,"Isolated apodia",["Isolated congenital absence of foot"]],[294988,"Isolated hypoplasia of thumb",["Isolated congenital absence/hypoplasia of thumb","Isolated congenital thumb hypodactyly","Isolated congenital thumb oligodactyly"]],[294990,"OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb",["OBSOLETE: Digits 2-5 hypodactyly","OBSOLETE: Digits 2-5 oligodactyly"]],[294992,"OBSOLETE: Split hand",["OBSOLETE: Ectrodactyly of hand"]],[294994,"OBSOLETE: Split foot"],[294996,"OBSOLETE: Brachydactyly of fingers",["OBSOLETE: Short fingers"]],[294998,"OBSOLETE: Brachydactyly of toes",["OBSOLETE: Short toes"]],[295000,"Amniotic band syndrome",["ABS","Amniotic band sequence","Congenital constriction ring syndrome","Congenital ring constrictions","Constriction band syndrome","Streeter dysplasia"]],[295002,"Isolated hyperphalangy",["Isolated congenital supernumerary phalanges","Supernumerary phalanx"]],[295004,"Central polydactyly",["Mesoaxial polydactyly"]],[295006,"OBSOLETE: Preaxial polydactyly of toes",["OBSOLETE: Bifid great toes","OBSOLETE: Bifid halluces","OBSOLETE: Bifid hallux","OBSOLETE: Preaxial polydactyly of foot"]],[295008,"OBSOLETE: Postaxial polydactyly of toes",["OBSOLETE: Postaxial polydactyly of foot"]],[295010,"OBSOLETE: Central polydactyly of toes",["OBSOLETE: Central polydactyly of foot","OBSOLETE: Mesoaxial polydactyly of toes","OBSOLETE: Mirror foot"]],[295012,"Syndactyly type 6",["Mitten hand","Syndactyly, mitten type","Unilateral syndactyly of digits 2-5"]],[295014,"Familial isolated clinodactyly of fingers"],[295016,"Camptodactyly of fingers"],[295018,"Congenital pseudoarthrosis of the tibia",["Congenital pseudarthrosis of the tibia"]],[295020,"Congenital pseudoarthrosis of the femur",["Congenital pseudarthrosis of the femur"]],[295022,"Congenital pseudoarthrosis of the fibula",["Congenital pseudarthrosis of the fibula"]],[295024,"Congenital pseudoarthrosis of the radius",["Congenital pseudarthrosis of the radius"]],[295026,"Congenital pseudoarthrosis of the ulna",["Congenital pseudarthrosis of the ulna"]],[295028,"Isolated tibio-fibular synostosis",["Isolated congenital tibiofibular fusion"]],[295030,"True congenital shoulder dislocation"],[295032,"Isolated congenital radial head dislocation",["Isolated congenital elbow dislocation"]],[295034,"Congenital knee dislocation"],[295036,"Congenital patella dislocation"],[295038,"OBSOLETE: Patella aplasia/hypoplasia, unilateral"],[295041,"OBSOLETE: Patella aplasia/hypoplasia, bilateral"],[295044,"Macrodactyly of fingers",["Macrodactyly of hand"]],[295047,"Macrodactyly of toes",["Macrodactyly of foot"]],[295049,"Upper limb hypertrophy"],[295051,"Lower limb hypertrophy"],[295053,"OBSOLETE: Amelia of upper limb, unilateral"],[295055,"OBSOLETE: Amelia of upper limb, bilateral"],[295057,"OBSOLETE: Amelia of lower limb, unilateral"],[295059,"OBSOLETE: Amelia of lower limb, bilateral"],[295061,"OBSOLETE: Humeral agenesis/hypoplasia, unilateral",["OBSOLETE: Humeral intercalary meromelia, unilateral"]],[295063,"OBSOLETE: Humeral agenesis/hypoplasia, bilateral",["OBSOLETE: Humeral intercalary meromelia, bilateral"]],[295065,"OBSOLETE: Femoral agenesis/hypoplasia, unilateral",["OBSOLETE: Femoral intercalary meromelia, unilateral"]],[295067,"OBSOLETE: Femoral agenesis/hypoplasia, bilateral",["OBSOLETE: Femoral intercalary meromelia, bilateral"]],[295069,"OBSOLETE: Radial hemimelia, unilateral",["OBSOLETE: Radial longitidinal meromelia, unilateral"]],[295071,"OBSOLETE: Radial hemimelia, bilateral",["OBSOLETE: Radial longitidinal meromelia, bilateral"]],[295073,"OBSOLETE: Ulnar hemimelia, bilateral",["OBSOLETE: Ulnar longitudinal meromelia, bilateral"]],[295075,"OBSOLETE: Ulnar hemimelia, unilateral",["OBSOLETE: Ulnar longitudinal meromelia, unilateral"]],[295077,"OBSOLETE: Tibial hemimelia, unilateral",["OBSOLETE: Tibial longitudinal meromelia, unilateral"]],[295079,"OBSOLETE: Tibial hemimelia, bilateral",["OBSOLETE: Tibial longitudinal meromelia, bilateral"]],[295081,"OBSOLETE: Fibular hemimelia, unilateral",["OBSOLETE: Fibular longitudinal meromelia, unilateral"]],[295083,"OBSOLETE: Fibular hemimelia, bilateral",["OBSOLETE: Fibular longitudinal meromelia, bilateral"]],[295085,"OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral",["OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral"]],[295087,"OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral",["OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral"]],[295089,"OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral",["OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral"]],[295091,"OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral",["OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral"]],[295093,"OBSOLETE: Congenital absence of both forearm and hand, unilateral",["OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral"]],[295095,"OBSOLETE: Congenital absence of both forearm and hand, bilateral",["OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral"]],[295097,"OBSOLETE: Congenital absence of both lower leg and foot, unilateral",["OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral"]],[295099,"OBSOLETE: Congenital absence of both lower leg and foot, bilateral",["OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral"]],[295101,"OBSOLETE: Acheiria, unilateral",["OBSOLETE: Congenital absence of hand, unilateral"]],[295103,"OBSOLETE: Acheiria, bilateral",["OBSOLETE: Congenital absence of hand, bilateral"]],[295105,"OBSOLETE: Apodia, unilateral",["OBSOLETE: Congenital absence of foot, unilateral"]],[295107,"OBSOLETE: Apodia, bilateral",["OBSOLETE: Congenital absence of foot, bilateral"]],[295110,"OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral",["OBSOLETE: Thumb hypodactyly, unilateral","OBSOLETE: Thumb oligodactyly, unilateral"]],[295112,"OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral",["OBSOLETE: Thumb hypodactyly, bilateral","OBSOLETE: Thumb oligodactyly, bilateral"]],[295114,"OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral",["OBSOLETE: Adactyly of hand, bilateral","OBSOLETE: Digits 2-5 hypodactyly, bilateral","OBSOLETE: Digits 2-5 oligodactyly, bilateral"]],[295116,"OBSOLETE: Adactyly of foot, unilateral",["OBSOLETE: Congenital absence of toes, unilateral"]],[295118,"OBSOLETE: Adactyly of foot, bilateral",["OBSOLETE: Congenital absence of toes, bilateral"]],[295120,"OBSOLETE: Split hand, unilateral",["OBSOLETE: Ectrodactyly of hand, unilateral"]],[295122,"OBSOLETE: Split hand, bilateral",["OBSOLETE: Ectrodactyly of hand, bilateral"]],[295124,"OBSOLETE: Split foot, unilateral"],[295126,"OBSOLETE: Split foot, bilateral"],[295128,"OBSOLETE: Brachydactyly of fingers, unilateral",["OBSOLETE: Short fingers, unilateral"]],[295130,"OBSOLETE: Brachydactyly of fingers, bilateral",["OBSOLETE: Short fingers, bilateral"]],[295132,"OBSOLETE: Brachydactyly of toes, unilateral",["OBSOLETE: Short toes, unilateral"]],[295134,"OBSOLETE: Brachydactyly of toes, bilateral",["OBSOLETE: Short toes, bilateral"]],[295136,"OBSOLETE: Symbrachydactyly of hand and foot, unilateral"],[295138,"OBSOLETE: Symbrachydactyly of hand and foot, bilateral"],[295140,"OBSOLETE: Hyperphalangy, unilateral",["OBSOLETE: Hyperphalangy in digits 2-5","OBSOLETE: Supernumerary phalanges, unilateral","OBSOLETE: Supernumerary phalanx, unilateral"]],[295142,"OBSOLETE: Hyperphalangy, bilateral",["OBSOLETE: Supernumerary phalanges, bilateral","OBSOLETE: Supernumerary phalanx, bilateral"]],[295144,"OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral",["OBSOLETE: Preaxial polydactyly type 1, unilateral"]],[295146,"OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral",["OBSOLETE: Preaxial polydactyly type 1, bilateral"]],[295148,"OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral",["OBSOLETE: Preaxial polydactyly type 2, unilateral","OBSOLETE: Unilateral PPD2"]],[295150,"OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral",["OBSOLETE: Bilateral PPD2","OBSOLETE: Preaxial polydactyly type 2, bilateral"]],[295152,"OBSOLETE: Polydactyly of an index finger, unilateral",["OBSOLETE: Preaxial polydactyly type 3, unilateral"]],[295154,"OBSOLETE: Polydactyly of an index finger, bilateral",["OBSOLETE: Preaxial polydactyly type 3, bilateral"]],[295159,"OBSOLETE: Polysyndactyly, unilateral",["OBSOLETE: Preaxial polydactyly type 4, unilateral"]],[295161,"OBSOLETE: Polysyndactyly, bilateral",["OBSOLETE: Preaxial polydactyly type 4, bilateral"]],[295163,"OBSOLETE: Postaxial polydactyly type A, unilateral"],[295165,"OBSOLETE: Postaxial polydactyly type A, bilateral"],[295167,"OBSOLETE: Postaxial polydactyly type B, unilateral"],[295169,"OBSOLETE: Postaxial polydactyly type B, bilateral"],[295171,"OBSOLETE: Central polydactyly of fingers, unilateral",["OBSOLETE: Mesoaxial polydactyly of fingers, unilateral","OBSOLETE: Mirror hand, unilateral"]],[295173,"OBSOLETE: Central polydactyly of fingers, bilateral",["OBSOLETE: Mesoaxial polydactyly of fingers, bilateral","OBSOLETE: Mirror hand, bilateral"]],[295175,"OBSOLETE: Preaxial polydactyly of toes, unilateral",["OBSOLETE: Bifid great toes, unilateral","OBSOLETE: Bifid halluces, unilateral","OBSOLETE: Bifid hallux, unilateral"]],[295177,"OBSOLETE: Preaxial polydactyly of toes, bilateral",["OBSOLETE: Bifid great toes, bilateral","OBSOLETE: Bifid halluces, bilateral","OBSOLETE: Bifid hallux, bilateral"]],[295179,"OBSOLETE: Postaxial polydactyly of toes, unilateral"],[295181,"OBSOLETE: Postaxial polydactyly of toes, bilateral"],[295183,"OBSOLETE: Central polydactyly of toes, unilateral",["OBSOLETE: Mesoaxial polydactyly of toes, unilateral","OBSOLETE: Mirror foot, unilateral"]],[295185,"OBSOLETE: Central polydactyly of toes, bilateral",["OBSOLETE: Mesoaxial polydactyly of toes, bilateral","OBSOLETE: Mirror foot, bilateral"]],[295187,"Zygodactyly type 1",["SD1, Weidenreich type","SD1a","Syndactyly type 1, Weidenreich type","Syndactyly type 1a","Zygodactyly, Weidenreich type"]],[295189,"Zygodactyly type 2",["SD1, Lueken type","SD1b","Syndactyly type 1, Lueken type","Syndactyly type 1b","Zygodactyly, Lueken type"]],[295191,"Zygodactyly type 3",["SD1, Montagu type","SD1c","Syndactyly type 1, Montagu type","Syndactyly type 1c","Zygodactyly, Montagu type"]],[295193,"Zygodactyly type 4",["SD1, Castilla type","SD1d","Syndactyly type 1, Castilla type","Syndactyly type 1d","Zygodactyly, Castilla type"]],[295195,"Synpolydactyly type 1",["SD2, Vordingborg type","SD2a","SPD, Vordingborg type","SPD1","Synpolydactyly, Vordingborg type"]],[295197,"Synpolydactyly type 2",["SD2, Debeer type","SD2b","SPD, Debeer type","SPD2","Synpolydactyly, Debeer type"]],[295199,"Synpolydactyly type 3",["SD2, Malik type","SD2c","SPD, Malik type","SPD3","Synpolydactyly, Malik type"]],[295201,"Congenital vertical talus, unilateral"],[295203,"Congenital vertical talus, bilateral"],[295205,"OBSOLETE: Humero-radio-ulnar synostosis, unilateral",["OBSOLETE: Humero-radio-ulnar fusion, unilateral"]],[295207,"OBSOLETE: Humero-radio-ulnar synostosis, bilateral",["OBSOLETE: Humero-radio-ulnar fusion, bilateral"]],[295209,"OBSOLETE: Humero-radial synostosis, unilateral",["OBSOLETE: Humero-radial fusion, unilateral"]],[295211,"OBSOLETE: Humero-radial synostosis, bilateral",["OBSOLETE: Humero-radial fusion, bilateral"]],[295213,"OBSOLETE: Humero-ulnar synostosis, unilateral",["OBSOLETE: Humero-ulnar fusion, unilateral"]],[295215,"OBSOLETE: Humero-ulnar synostosis, bilateral",["OBSOLETE: Humero-ulnar fusion, bilateral"]],[295217,"OBSOLETE: Radio-ulnar synostosis, unilateral",["OBSOLETE: Radio-ulnar fusion, unilateral"]],[295219,"OBSOLETE: Radio-ulnar synostosis, bilateral",["OBSOLETE: Radio-ulnar fusion, bilateral"]],[295221,"OBSOLETE: Madelung deformity, unilateral"],[295223,"OBSOLETE: Madelung deformity, bilateral"],[295225,"Congenital elbow dislocation, unilateral"],[295227,"Congenital elbow dislocation, bilateral"],[295229,"Congenital genu recurvatum"],[295232,"Congenital genu flexum"],[295234,"OBSOLETE: Congenital patella dislocation, unilateral"],[295237,"OBSOLETE: Congenital patella dislocation, bilateral"],[295239,"Macrodactyly of fingers, unilateral",["Macrodactyly of hand, unilateral"]],[295241,"Macrodactyly of fingers, bilateral",["Macrodactyly of hand, bilateral"]],[295243,"Macrodactyly of toes, unilateral",["Macrodactyly of foot, unilateral"]],[295245,"Macrodactyly of toes, bilateral",["Macrodactyly of foot, bilateral"]],[298644,"Disorder of thiamine metabolism and transport"],[300179,"Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency",["Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness","Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss","FKBP14-related EDS","FKBP22-deficient EDS","Kyphoscoliotic EDS due to FKBP22 deficiency","kEDS-FKBP14"]],[300284,"Connective tissue disorder due to lysyl hydroxylase-3 deficiency",["Bone fragility-contractures-arterial rupture-deafness syndrome","Bone fragility-contractures-arterial rupture-hearing loss syndrome","Connective tissue disorder due to LH3 deficiency"]],[300293,"Transient infantile hypertriglyceridemia and hepatosteatosis",["Transient infantile hypertriglyceridemia and fatty liver"]],[300298,"Severe congenital hypochromic anemia with ringed sideroblasts",["Severe congenital hypochromic sideroblastic anemia"]],[300305,"11p15.4 microduplication syndrome",["Dup(11)p(15.4)","Trisomy 11p15.4"]],[300313,"Congenital cataract-hearing loss-severe developmental delay syndrome",["Congenital cataract-deafness-severe developmental delay syndrome","Huppke-Brendel syndrome","Lethal neurodegenerative disorder due to copper transport defect"]],[300319,"Charcot-Marie-Tooth disease type 2P",["CMT2P"]],[300324,"Persistent polyclonal B-cell lymphocytosis",["PPBL","Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes"]],[300333,"Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome",["EBS with nephropathy","Epidermolysis bullosa simplex with nephropathy","Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome"]],[300337,"OBSOLETE: Congenital blindness due to retinal non-attachment"],[300345,"Autosomal systemic lupus erythematosus",["Autosomal SLE","Familial SLE","Familial systemic lupus erythematosus"]],[300359,"PLCG2-associated antibody deficiency and immune dysregulation",["FACU","Familial atypical cold urticaria","Familial cold urticaria with common variable immunodeficiency","PLAID"]],[300373,"X-linked acrogigantism",["Familial infantile gigantism","Hereditary infantile gigantism","Hereditary pituitary hyperplasia","Infantile gigantism due to pituitary hyperplasia","X-LAG"]],[300382,"Progeroid and marfanoid aspect-lipodystrophy syndrome"],[300385,"Pituitary carcinoma"],[300493,"Sagliker syndrome"],[300496,"Multiple congenital anomalies-hypotonia-seizures syndrome type 2",["MCAHS type 2"]],[300501,"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome"],[300504,"Onychocytic matricoma",["Acanthoma of the nail matrix"]],[300512,"Onychomatricoma"],[300515,"Rare nail tumor"],[300525,"Pseudohypoaldosteronism type 2D",["PHA2D"]],[300530,"Pseudohypoaldosteronism type 2E",["PHA2E"]],[300536,"DDOST-CDG",["CDG syndrome type Ir","CDG-Ir","CDG1R","Carbohydrate deficient glycoprotein syndrome type Ir","Congenital disorder of glycosylation type 1r","Congenital disorder of glycosylation type Ir"]],[300547,"Autosomal recessive infantile hypercalcemia",["Familial infantile hypercalcemia with suppressed intact parathyroid hormone","IIH","Idiopathic infantile hypercalcemia","Infantile hypercalcaemia type 1"]],[300552,"Follicular cholangitis and pancreatitis",["Follicular pancreatocholangitis"]],[300557,"Carcinoma of the ampulla of Vater",["Ampulloma","Ampullary carcinoma"]],[300564,"Combined pulmonary fibrosis-emphysema syndrome",["CPFE"]],[300570,"Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"],[300573,"Polymicrogyria due to TUBB2B mutation"],[300576,"Oligodontia-cancer predisposition syndrome",["Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome"]],[300579,"Staphylococcal toxemia"],[300605,"Juvenile amyotrophic lateral sclerosis",["JALS","Juvenile Charcot disease","Juvenile Lou Gehrig disease"]],[300751,"Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"],[300755,"Laminopathy with striated muscle involvement"],[300758,"Laminopathy with peripheral neuropathy"],[300763,"Laminopathy with lipodystrophy"],[300766,"Laminopathy with premature aging"],[300842,"Indolent B-cell non-Hodgkin lymphoma",["Indolent B-cell NHL"]],[300846,"Aggressive B-cell non-Hodgkin lymphoma",["Aggressive B-cell NHL"]],[300849,"Diffuse large B-cell lymphoma of the central nervous system",["DLBCL of the CNS"]],[300857,"T-cell/histiocyte rich large B cell lymphoma",["THRLBCL"]],[300865,"Primary cutaneous anaplastic large cell lymphoma",["Primary C-ALCL","Regressive atypical histiocytosis"]],[300869,"Splenic diffuse red pulp small B-cell lymphoma",["SDRPL","Splenic diffuse red pulp lymphoma"]],[300878,"Hairy cell leukemia variant",["HCL-v","Leukemic reticuloendotheliosis variant","Prolymphocytic variant of HCL","Prolymphocytic variant of hairy cell leukemia"]],[300888,"Diffuse large B-cell lymphoma with chronic inflammation",["DLBCL with chronic inflammation"]],[300895,"ALK-positive anaplastic large cell lymphoma",["ALK+ ALCL","ALK+ anaplastic large cell lymphoma"]],[300903,"ALK-negative anaplastic large cell lymphoma",["ALK- ALCL","ALK- anaplastic large cell lymphoma"]],[300912,"Marginal zone lymphoma"],[304055,"Pituitary tumor"],[306431,"Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies",["Acquired adult-onset immunodeficiency","Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies"]],[306436,"OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance",["OBSOLETE: CSID with starch intolerance","OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch intolerance","OBSOLETE: Congenital sucrose intolerance with starch intolerance","OBSOLETE: Disaccharide intolerance with starch intolerance"]],[306446,"OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance",["OBSOLETE: CSID with minimal starch tolerance","OBSOLETE: Congenital sucrase-isomaltose malabsorption with minimal starch tolerance","OBSOLETE: Congenital sucrose intolerance with minimal starch tolerance","OBSOLETE: Disaccharide intolerance with minimal starch tolerance"]],[306462,"OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance",["OBSOLETE: CSID without starch intolerance","OBSOLETE: Congenital sucrase-isomaltose malabsorption without starch intolerance","OBSOLETE: Congenital sucrose intolerance without starch intolerance","OBSOLETE: Disaccharide intolerance without starch intolerance"]],[306474,"OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance",["OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance","OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance","OBSOLETE: Disaccharide intolerance with starch and lactose intolerance","OBSOLETE: CSID with starch and lactose intolerance"]],[306486,"OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance",["OBSOLETE: CSID without sucrose intolerance","OBSOLETE: Congenital sucrose-isomaltose malabsorption without sucrose intolerance","OBSOLETE: Disaccharide intolerance without sucrose intolerance"]],[306498,"PTEN hamartoma tumor syndrome",["PHTS"]],[306504,"Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome",["ILNEB syndrome","JEB with interstitial lung disease and nephrotic syndrome","Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome"]],[306507,"LAMB2-related infantile-onset nephrotic syndrome"],[306511,"Autosomal recessive spastic paraplegia type 48",["SPG48"]],[306516,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis",["FHHNC","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis","Michellis-Castrillo syndrome"]],[306519,"OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria"],[306522,"OBSOLETE: Genetic primary hypomagnesemia with normocalciuria"],[306527,"Isolated hereditary congenital facial paralysis"],[306530,"Congenital hereditary facial paralysis-variable hearing loss syndrome",["Congenital hereditary facial palsy with variable deafness","Congenital hereditary facial palsy with variable hearing loss","Congenital hereditary facial paralysis with variable deafness","Congenital hereditary facial paralysis-variable deafness syndrome"]],[306539,"OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary"],[306542,"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome",["ALX1-related frontonasal dysplasia","Frontonasal dysplasia type 3"]],[306547,"Porencephaly-microcephaly-bilateral congenital cataract syndrome"],[306550,"FADD-related immunodeficiency"],[306553,"Myospherulosis",["Spherulocytosis","Subcutaneous spherulocystic disease"]],[306558,"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"],[306561,"OBSOLETE: Autosomal dominant childhood-onset cortical cataract",["OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract"]],[306577,"Hereditary sodium channelopathy-related small fibers neuropathy"],[306588,"OBSOLETE: Autosomal dominant Opitz G/BBB syndrome",["OBSOLETE: ADOS","OBSOLETE: Autosomal dominant Opitz BBB/G syndrome","OBSOLETE: Autosomal dominant Opitz syndrome"]],[306597,"OBSOLETE: X-linked Opitz G/BBB syndrome",["OBSOLETE: X-linked Opitz BBB/G syndrome","OBSOLETE: X-linked Opitz syndrome","OBSOLETE: XLOS"]],[306617,"X-linked complicated spastic paraplegia type 1",["SPG1"]],[306633,"Rare tumor of gallbladder and extrahepatic biliary tract",["Rare tumor of gallbladder and EBT"]],[306636,"Rare tumor of liver and intrahepatic biliary tract",["Rare tumor of liver and IBT"]],[306640,"Rare intoxication due to medical products"],[306644,"Complication after organ transplantation"],[306648,"Non-infectious anterior uveitis",["Non-infectious iridocyclitis"]],[306658,"Familial normophosphatemic tumoral calcinosis"],[306661,"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome",["Hypercalcemic tumoral calcinosis"]],[306666,"Rare parkinsonian syndrome due to neurodegenerative disease"],[306669,"Hemiparkinsonism-hemiatrophy syndrome",["HP-HA syndrome"]],[306674,"Kufor-Rakeb syndrome",["PARK9"]],[306679,"Rare parkinsonian syndrome due to intoxication"],[306682,"Manganese poisoning",["Manganese intoxication","Manganism"]],[306686,"Delayed encephalopathy due to carbon monoxide poisoning",["Delayed encephalopathy due to CO poisoning"]],[306692,"Cyanide-induced parkinsonism-dystonia"],[306695,"Miscellaneous movement disorder due to neurodegenerative disease"],[306708,"Frontotemporal neurodegeneration with movement disorder"],[306712,"Rare tremor disorder"],[306715,"Rare choreic movement disorder"],[306719,"Neurodegenerative disease with chorea"],[306727,"Postinfectious autoimmune disease with chorea"],[306731,"Sydenham chorea"],[306734,"Primary dystonia, DYT21 type",["DYT21"]],[306741,"Hemidystonia-hemiatrophy syndrome",["HD-HA syndrome"]],[306747,"Rare myoclonus"],[306750,"Primary myoclonus"],[306753,"Rare disease with myoclonus as a major feature"],[306756,"Epilepsy and/or ataxia with myoclonus as a major feature"],[306759,"Non progressive epilepsy and/or ataxia with myoclonus as a major feature"],[306762,"OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature"],[306765,"Motor stereotypies"],[306768,"Rare paroxysmal movement disorder"],[306773,"Hyperekplexia"],[306776,"Sporadic hyperekplexia"],[307052,"Rare genetic parkinsonian disorder",["Rare genetic hypokinetic movement disorder"]],[307055,"Rare parkinsonian syndrome due to genetic neurodegenerative disease"],[307058,"Miscellaneous movement disorder due to genetic neurodegenerative disease"],[307061,"Rare genetic tremor disorder"],[307064,"Rare genetic myoclonus"],[307067,"Rare genetic disease with myoclonus as a major feature"],[307141,"Diffuse palmoplantar keratoderma",["Diffuse PPK","Diffuse keratosis palmoplantaris","Diffuse palmoplantar hyperkeratosis"]],[307148,"Isolated diffuse palmoplantar keratoderma",["Isolated diffuse PPK","Isolated diffuse keratosis palmoplantaris","Isolated diffuse palmoplantar hyperkeratosis"]],[307711,"Disease with diffuse palmoplantar keratoderma as a major feature",["Disease with diffuse palmoplantar hyperkeratosis as a major feature"]],[307766,"Curly hair-acral keratoderma-caries syndrome",["CHAC syndrome","CHACS"]],[307773,"Autosomal dominant diffuse mutilating palmoplantar keratoderma",["Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis"]],[307804,"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature",["Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature"]],[307837,"Focal palmoplantar keratoderma",["Focal PPK","Focal keratosis palmoplantaris","Focal palmoplantar hyperkeratosis"]],[307846,"Isolated focal palmoplantar keratoderma",["Isolated focal PPK","Isolated focal keratosis palmoplantaris","Isolated focal palmoplantar hyperkeratosis"]],[307871,"Disease with focal palmoplantar keratoderma as a major feature",["Disease with focal palmoplantar hyperkeratosis as a major feature"]],[307936,"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome",["HOPP syndrome","Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome","Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome","Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome"]],[307967,"Punctate palmoplantar keratoderma",["Punctate PPK","Punctate keratosis palmoplantaris","Punctate palmoplantar hyperkeratosis"]],[307995,"Marginal papular palmoplantar keratoderma",["Marginal papular palmoplantar hyperkeratosis"]],[308013,"Focal acral hyperkeratosis",["PPKP3 without elastoidosis","PPPK3 without elastoidosis","Punctate palmoplantar hyperkeratosis type 3 without elastoidosis","Punctate palmoplantar keratoderma type 3 without elastoidosis"]],[308023,"Disease with punctate palmoplantar keratoderma as a major feature",["Disease with punctate palmoplantar hyperkeratosis as a major feature"]],[308031,"Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature",["Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature"]],[308041,"Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature",["Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature"]],[308166,"Erythrokeratoderma variabilis progressiva"],[308380,"Methylcobalamin deficiency type cblDv1",["Functional methionine synthase deficiency type cblDv1"]],[308386,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A",["MOCOD type A","Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A"]],[308393,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B",["Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B","MOCOD type B"]],[308400,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",["Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C","MOCOD type C"]],[308407,"Disorder of beta and omega amino acid metabolism"],[308410,"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"],[308425,"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency",["MCEE deficiency","Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency","Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency","Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency"]],[308442,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2",["Vitamin B12-responsive methylmalonic aciduria, type cblDv2"]],[308448,"Aminoacylase deficiency"],[308451,"Disorder of neutral amino acid transport"],[308459,"Disorder of glycolysis"],[308463,"Disorder of fructose metabolism"],[308467,"Disorder of galactose metabolism"],[308473,"Erythrocyte galactose epimerase deficiency",["Erythrocyte GALE deficiency","Erythrocyte GALE-D","Erythrocyte UDP-galactose-4-epimerase deficiency","Erythrocyte epimerase deficiency galactosemia","Erythrocyte uridine diphosphate galactose-4-epimerase deficiency"]],[308487,"Generalized galactose epimerase deficiency",["Generalized GALE deficiency","Generalized GALE-D","Generalized UDP-galactose-4-epimerase deficiency","Generalized epimerase deficiency galactosemia","Generalized uridine diphosphate galactose-4-epimerase deficiency"]],[308520,"Glycogen storage disease due to glycogen synthase deficiency",["GSD due to glycogen synthase deficiency","Glycogenosis due to glycogen synthase deficiency"]],[308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",["Alpha-1,4-glucosidase acid deficiency, infantile onset","GSD due to acid maltase deficiency, infantile onset","GSD type 2, infantile onset","GSD type II, infantile onset","Glycogen storage disease type 2, infantile onset","Glycogen storage disease type II, infantile onset","Glycogenosis due to acid maltase deficiency, infantile onset","Glycogenosis type 2, infantile onset","Glycogenosis type II, infantile onset","Pompe disease, infantile onset"]],[308573,"OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset",["OBSOLETE: Alpha-1,4-glucosidase acid deficiency, juvenile onset","OBSOLETE: GSD due to acid maltase deficiency, juvenile onset","OBSOLETE: GSD type 2, juvenile onset","OBSOLETE: Glycogen storage disease type 2, juvenile onset","OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset","OBSOLETE: Glycogenosis type 2, juvenile onset","OBSOLETE: Pompe disease, juvenile onset"]],[308604,"OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset",["OBSOLETE: Pompe disease, adult onset","OBSOLETE: Alpha-1,4-glucosidase acid deficiency, adult onset","OBSOLETE: GSD due to acid maltase deficiency, adult onset","OBSOLETE: GSD type 2, adulte onset","OBSOLETE: Glycogen storage disease type 2, adult onset","OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset","OBSOLETE: Glycogenosis type 2, adult onset"]],[308621,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",["GBE deficiency, progressive hepatic form","GSD due to glycogen branching enzyme deficiency, progressive hepatic form","GSD type 4, progressive hepatic form","GSDIV, progressive hepatic form","Glycogen storage disease type 4, progressive hepatic form","Glycogen storage disease type IV, progressive hepatic form","Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form","Glycogenosis type 4, progressive hepatic form","Glycogenosis type IV, progressive hepatic form"]],[308638,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form",["GBE deficiency, non progressive hepatic form","GSD due to glycogen branching enzyme deficiency, non progressive hepatic form","GSD type 4, non progressive hepatic form","GSDIV, non progressive hepatic form","Glycogen storage disease type 4, non progressive hepatic form","Glycogen storage disease type IV, non progressive hepatic form","Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form","Glycogenosis type 4, non progressive hepatic form","Glycogenosis type IV, non progressive hepatic form"]],[308655,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",["GBE deficiency, fatal perinatal neuromuscular form","GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","GSD type 4, fatal perinatal neuromuscular form","GSDIV, fatal perinatal neuromuscular form","Glycogen storage disease type 4, fatal perinatal neuromuscular form","Glycogen storage disease type IV, fatal perinatal neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","Glycogenosis type 4, fatal perinatal neuromuscular form","Glycogenosis type IV, fatal perinatal neuromuscular form"]],[308670,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",["GBE deficiency, congenital neuromuscular form","GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form","GSD type 4, congenital neuromuscular form","GSDIV, congenital neuromuscular form","Glycogen storage disease type 4, congenital neuromuscular form","Glycogen storage disease type IV, congenital neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form","Glycogenosis type 4, congenital neuromuscular form","Glycogenosis type IV, congenital neuromuscular form"]],[308684,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",["Glycogenosis type 4, childhood combined hepatic and myopathic form","Glycogenosis type IV, childhood combined hepatic and myopathic form","GBE deficiency, childhood combined hepatic and myopathic form","GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","GSD type 4, childhood combined hepatic and myopathic form","GSDIV, childhood combined hepatic and myopathic form","Glycogen storage disease type 4, childhood combined hepatic and myopathic form","Glycogen storage disease type IV, childhood combined hepatic and myopathic form","Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"]],[308698,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",["GBE deficiency, childhood neuromuscular form","GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form","GSD type 4, childhood neuromuscular form","GSDIV, childhood neuromuscular form","Glycogen storage disease type 4, childhood neuromuscular form","Glycogen storage disease type IV, childhood neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form","Glycogenosis type 4, childhood neuromuscular form","Glycogenosis type IV, childhood neuromuscular form"]],[308712,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form",["GBE deficiency, adult neuromuscular form","GSD due to glycogen branching enzyme deficiency, adult neuromuscular form","GSD type 4, adult neuromuscular form","GSDIV, adult neuromuscular form","Glycogen storage disease type 4, adult neuromuscular form","Glycogen storage disease type IV, adult neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form","Glycogenosis type 4, adult neuromuscular form","Glycogenosis type IV, adult neuromuscular form"]],[308993,"Glycerol kinase deficiency"],[308998,"Disorder of glyoxylate metabolism"],[309001,"Disorder of carbohydrate absorption and transport"],[309005,"Disorder of lipid metabolism"],[309015,"Familial lipoprotein lipase deficiency",["LPL deficiency"]],[309020,"Familial apolipoprotein C-II deficiency",["Familial APOC2 deficiency","Familial apoC-II deficiency"]],[309025,"Mevalonate kinase deficiency",["MKD"]],[309028,"Disorder of lipid absorption and transport"],[309031,"Pancreatic triacylglycerol lipase deficiency",["Pancreatic triglyceride lipase deficiency"]],[309108,"Pancreatic colipase deficiency"],[309111,"Combined pancreatic lipase-colipase deficiency"],[309115,"Disorder of fatty acid oxidation and ketogenesis"],[309120,"Acyl-CoA dehydrogenase deficiency"],[309127,"3-hydroxyacyl-CoA dehydrogenase deficiency"],[309130,"Disorder of carnitine cycle and carnitine transport"],[309133,"Metabolic disease due to other fatty acid oxidation disorder"],[309136,"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes"],[309139,"OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA",["OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mtDNA"]],[309144,"Gangliosidosis"],[309147,"Hyper-beta-alaninemia",["Hyperalaninemia"]],[309152,"GM2 gangliosidosis"],[309155,"Sandhoff disease, infantile form",["Beta-hexosaminidase subunit beta deficiency, infantile form","GM2 gangliosidosis, Sandhoff variant, infantile form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form"]],[309162,"Sandhoff disease, juvenile form",["Beta-hexosaminidase subunit beta deficiency, juvenile form","GM2 gangliosidosis, Sandhoff variant, juvenile form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form"]],[309169,"Sandhoff disease, adult form",["Beta-hexosaminidase subunit beta deficiency, adult form","GM2 gangliosidosis, Sandhoff variant, adult form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form"]],[309178,"Tay-Sachs disease, infantile form",["Acute infantile Tay-Sachs disease","Beta-hexosaminidase subunit alpha deficiency, infantile form","GM2 gangliosidosis, Tay-Sachs variant, infantile form","GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form","HEXA disorder, infantile form"]],[309185,"Tay-Sachs disease, juvenile form",["Beta-hexosaminidase subunit alpha deficiency, juvenile form","GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form","GM2 gangliosidosis, Tay-Sachs variant, juvenile form","HEXA disorder, juvenile form","Subacute juvenile Tay-Sachs disease"]],[309192,"Tay-Sachs disease, adult form",["Beta-hexosaminidase subunit alpha deficiency, adult form","GM2 gangliosidosis, Tay-Sachs variant, adult form","GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form","HEXA disorder, adult form","Late-onset Tay-Sachs disease"]],[309239,"OBSOLETE: Tay-Sachs disease, B1 variant",["OBSOLETE: GM2 gangliosidosis, B1 variant","OBSOLETE: Hexosaminidase A deficiency, B1 variant"]],[309246,"GM2 gangliosidosis, AB variant",["Hexosaminidase activator deficiency"]],[309252,"Atypical Gaucher disease due to saposin C deficiency"],[309256,"Metachromatic leukodystrophy, late infantile form",["Arylsulfatase A deficiency, late infantile form","MLD, late infantile form"]],[309263,"Metachromatic leukodystrophy, juvenile form",["Arylsulfatase A deficiency, juvenile form","MLD, juvenile form"]],[309271,"Metachromatic leukodystrophy, adult form",["Arylsulfatase A deficiency, adult form","MLD, adult form"]],[309279,"Glycoproteinosis"],[309282,"Alpha-mannosidosis, infantile form",["Lysosomal alpha-D-mannosidase deficiency, infantile form"]],[309288,"Alpha-mannosidosis, adult form",["Lysosomal alpha-D-mannosidase deficiency, adult form"]],[309294,"Sialidosis"],[309297,"Mucopolysaccharidosis type 4A",["GALNS deficiency","Galactosamine-6-sulfatase deficiency","MPS4A","MPSIVA","Morquio disease type A","Mucopolysaccharidosis type IVA","N-acetylgalactosamine-6-sulfate sulfatase deficiency"]],[309310,"Mucopolysaccharidosis type 4B",["Beta-D-galactosidase deficiency","MPS4B","MPSIVB","Morquio disease type B","Mucopolysaccharidosis type IVB"]],[309319,"Disorder of sialic acid metabolism"],[309324,"Free sialic acid storage disease, infantile form",["ISSD"]],[309331,"Intermediate severe Salla disease"],[309334,"Salla disease"],[309337,"Lysosomal glycogen storage disease"],[309340,"Disorder of lysosomal-related organelles"],[309347,"Disorder of protein N-glycosylation"],[309447,"Disorder of protein O-glycosylation"],[309450,"Disorder of O-xylosylglycan synthesis"],[309458,"Disorder of O-N-acetylgalactosaminylglycan synthesis"],[309463,"Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis"],[309469,"Disorder of O-mannosylglycan synthesis"],[309505,"Disorder of fucoglycosan synthesis"],[309515,"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation",["Disorder of glycosphingolipid and GPI-anchored proteins glycosylation"]],[309526,"Disorder of multiple glycosylation"],[309568,"Defect in conserved oligomeric Golgi complex",["Defect in COG complex"]],[309778,"Defect in V-ATPase"],[309789,"Rhizomelic chondrodysplasia punctata type 1"],[309796,"Rhizomelic chondrodysplasia punctata type 2"],[309803,"Rhizomelic chondrodysplasia punctata type 3"],[309810,"Disorder of peroxisomal alpha-, beta- and omega-oxidation"],[309813,"Disorder of porphyrin and heme metabolism"],[309816,"Disorder of bilirubin metabolism and excretion"],[309819,"Disorder of pterin metabolism"],[309824,"Disorder of metabolite absorption and transport"],[309827,"Disorder of vitamin and non-protein cofactor absorption and transport"],[309830,"Disorder of catecholamine synthesis"],[309833,"Disorder of other vitamins and cofactors metabolism and transport"],[309836,"Disorder of mineral absorption and transport"],[309839,"Disorder of copper metabolism"],[309842,"Disorder of iron metabolism and transport"],[309845,"Disorder of zinc metabolism and transport"],[309848,"Disorder of magnesium transport"],[309851,"Disorder of manganese transport"],[309854,"Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"],[310050,"Rare acquired immunodeficiency"],[313772,"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome",["AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome","Autosomal recessive spastic ataxia type 5","SPAX5"]],[313781,"20p13 microdeletion syndrome",["20p subtelomeric deletion syndrome","Del(20)(p13)","Monosomy 20p13"]],[313795,"Jawad syndrome"],[313800,"ROSAH syndrome",["Optic nerve edema-splenomegaly syndrome","Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"]],[313808,"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia",["ALSP","Autosomal dominant leukoencephalopathy with neuroaxonal spheroids","FPSG","Familial dementia, Neumann type","Familial progressive subcortical gliosis","GPSC","HDLS","Hereditary diffuse leukoencephalopathy with spheroids","POLD","Pigmentary orthochromatic leukodystrophy","Subcortical gliosis of Neumann"]],[313838,"Coats plus syndrome",["CRMCC","Cerebroretinal microangiopathy with calcifications and cysts"]],[313846,"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"],[313850,"Infantile cerebellar-retinal degeneration"],[313855,"FGFR2-related bent bone dysplasia",["Perinatal lethal bent bone dysplasia"]],[313884,"12p12.1 microdeletion syndrome",["Del(12)(p12.1)","Monosomy 12p12.1"]],[313892,"Developmental and speech delay due to SOX5 deficiency"],[313906,"Congenital pancreatic cyst",["Neonatal congenital pancreatic cyst","True congenital pancreatic cyst"]],[313920,"Epstein-Barr virus-associated gastric carcinoma",["EBV-associated gastric carcinoma","EBVaGC"]],[313936,"PENS syndrome",["Papular epidermal nevi with skyline basal cell layers syndrome"]],[313947,"2q23.1 microduplication syndrome",["Dup(2)(q23.1)","Trisomy 2q23.1"]],[314002,"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome",["Dinno syndrome"]],[314017,"Idiopathic linear interstitial keratitis"],[314022,"Gastric adenocarcinoma and proximal polyposis of the stomach",["Familial fundic gland polyposis with gastric cancer","GAPPS"]],[314029,"High bone mass osteogenesis imperfecta",["High bone mass OI"]],[314034,"7p22.1 microduplication syndrome",["Dup(7)(p22.1)","Trisomy 7p22.1"]],[314041,"Marfanoid habitus-inguinal hernia-advanced bone age syndrome"],[314051,"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome",["COXPD12","Combined oxidative phosphorylation defect type 12","LTBL"]],[314373,"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity"],[314376,"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency",["Meconium ileus due to guanylate cyclase 2C deficiency"]],[314381,"Hereditary sensory and autonomic neuropathy type 6",["HSAN6","Hereditary sensory and autonomic neuropathy type VI","Familial dysautonomia with contractures"]],[314389,"Xq12-q13.3 duplication syndrome",["Dup(X)(q12-q13.3)","Kaya-Prontera syndrome"]],[314394,"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome",["SOFT syndrome"]],[314399,"Autosomal dominant aplasia and myelodysplasia",["Autosomal dominant aplastic anemia and myelodysplasia"]],[314404,"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome",["ADCA-DN syndrome","Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome"]],[314419,"Ameloblastoma"],[314422,"Ameloblastic carcinoma"],[314425,"Rare odontogenic tumor"],[314432,"Spigelian hernia-cryptorchidism syndrome"],[314451,"Meigs syndrome",["Demons-Meigs syndrome"]],[314459,"Pseudo-Meigs syndrome",["Pseudo-Demons-Meigs syndrome"]],[314466,"Atypical Meigs syndrome",["Atypical Demons-Meigs syndrome","Incomplete Meigs syndrome"]],[314473,"Ovarian fibroma"],[314478,"Ovarian fibrothecoma"],[314485,"Young adult-onset distal hereditary motor neuropathy",["Autosomal recessive distal spinal muscular atrophy type 5","Young adult-onset dHMN","dSMA5"]],[314555,"Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome",["Hamamy syndrome"]],[314566,"Primary progressive apraxia of speech",["PPAOS"]],[314572,"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"],[314575,"Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome"],[314585,"15q overgrowth syndrome"],[314588,"Distal triplication 15q syndrome",["Distal tetrasomy 15q","Tetrasomy 15(q25-qter)","Tetrasomy 15q26","Triplication 15q25-qter","Triplication 15q26"]],[314597,"Chudley-McCullough syndrome"],[314603,"Autosomal recessive spastic ataxia with leukoencephalopathy",["ARSAL","Autosomal recessive spastic ataxia type 3","SPAX3"]],[314613,"Growing teratoma syndrome"],[314621,"Duplication of the pituitary gland",["DPG-plus syndrome","Duplication of the pituitary gland-plus syndrome","Hypophyseal duplication"]],[314629,"CLN11 disease",["NCL11","Neuronal ceroid lipofuscinosis type 11"]],[314632,"CLN12 disease",["ATP13A2-related juvenile neuronal ceroid lipofuscinosis","Juvenile parkinsonism-neuronal ceroid lipofuscinosis","NCL12","Neuronal ceroid lipofuscinosis type 12"]],[314637,"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",["COXPD10","Combined oxidative phosphorylation defect type 10"]],[314647,"Non-progressive cerebellar ataxia with intellectual disability"],[314652,"Variant ABeta2M amyloidosis",["Autosomal dominant beta2-microglobulinic amyloidosis"]],[314655,"Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion",["5q31.3 microdeletion syndrome","Del(5)(q31.3)","Monosomy 5q31.3"]],[314662,"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"],[314667,"TMEM165-CDG",["Carbohydrate deficient glycoprotein syndrome type IIk","Congenital disorder of glycosylation type 2k","Congenital disorder of glycosylation type IIk","CDG syndrome type IIk","CDG-IIk","CDG2K"]],[314679,"Cerebrofacioarticular syndrome",["Van Maldergem syndrome"]],[314684,"Primary bone lymphoma"],[314689,"Combined immunodeficiency due to STK4 deficiency",["CID due to STK4 deficiency"]],[314697,"Acquired porencephaly"],[314701,"Primary systemic amyloidosis",["Systemic AL amyloidosis"]],[314709,"Primary localized amyloidosis",["Localized AL amyloidosis"]],[314718,"Lethal arteriopathy syndrome due to fibulin-4 deficiency"],[314721,"Atypical dentin dysplasia due to SMOC2 deficiency",["Dentin dysplasia type 1 with microdontia and shape anomalies"]],[314749,"Rare disease with adrenal Cushing syndrome as a major feature"],[314753,"Functioning pituitary adenoma",["Endocrine active pituitary adenoma","Secreting pituitary adenoma"]],[314759,"Mixed functioning pituitary adenoma",["Mixed secreting pituitary adenoma"]],[314769,"Somatomammotropinoma",["GH and PRL cosecreting pituitary adenoma","Growth hormone and prolactin cosecreting pituitary adenoma","Somatolactotropinoma","Somatoprolactinoma"]],[314777,"Familial isolated pituitary adenoma",["FIPA"]],[314786,"Silent pituitary adenoma"],[314790,"Null pituitary adenoma"],[314795,"SHOX-related short stature"],[314802,"Short stature due to partial GHR deficiency",["Short stature due to partial growth hormone receptor deficiency"]],[314811,"Short stature due to GHSR deficiency",["Ghrelin receptor deficiency","Short stature due to growth hormone secretagogue receptor deficiency"]],[314822,"Primary renal tubular acidosis"],[314889,"Autosomal dominant proximal renal tubular acidosis",["AD pRTA"]],[314911,"Severe Canavan disease",["Infantile Canavan disease","Neonatal Canavan disease"]],[314918,"Mild Canavan disease",["Juvenile Canavan disease"]],[314928,"NON RARE IN EUROPE: Normal pressure hydrocephalus",["NON RARE IN EUROPE: Chronic adult hydrocephalus"]],[314946,"OBSOLETE: Mycobacterium xenopi infection"],[314950,"Primary hypereosinophilic syndrome",["Clonal hypereosinophilic syndrome","HES-M","HES-N","Neoplastic hypereosinophilic syndrome","Primary HES"]],[314962,"Secondary hypereosinophilic syndrome",["HES-R","Reactive hypereosinophilic syndrome","Secondary HES"]],[314970,"Lymphocytic hypereosinophilic syndrome",["HES-L","Lymphocytic variant HES","Lymphoid HES"]],[314978,"X-linked non progressive cerebellar ataxia"],[314993,"Cataract-congenital heart disease-neural tube defect syndrome"],[315306,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",["Classic 21-OHD CAH, salt wasting form"]],[315311,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",["Classic 21-OHD CAH, simple virilizing form"]],[315350,"Autoimmune disease with skin involvement"],[316226,"Spastic ataxia",["SPAX"]],[316235,"Autosomal dominant spastic ataxia",["AD-SPAX"]],[316240,"Autosomal recessive spastic ataxia",["AR-SPAX"]],[316244,"Partial deletion of the short arm of chromosome 12 syndrome",["Partial deletion of chromosome 12p","Partial monosomy of chromosome 12p","Partial monosomy of the short arm of chromosome 12"]],[317416,"T-B+ severe combined immunodeficiency",["T-B+ SCID"]],[317419,"T-B- severe combined immunodeficiency",["T-B- SCID"]],[317425,"T-B-NK+ severe combined immunodeficiency due to DNA-PKcs deficiency",["T-B-NK+ SCID due to DNA-PKcs deficiency"]],[317428,"Combined immunodeficiency due to ORAI1 deficiency",["CID due to ORAI1 deficiency"]],[317430,"Combined immunodeficiency due to STIM1 deficiency",["CID due to STIM1 deficiency"]],[317473,"Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency",["CVID phenotype due to IKAROS functional haploinsufficiency","Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency"]],[317476,"XMEN",["CID due to MAGT1 deficiency","Combined immunodeficiency due to MAGT1 deficiency","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"]],[319160,"Congenital myopathy with internal nuclei and atypical cores",["CNM4","Centronuclear myopathy type 4"]],[319171,"Distal 17p13.1 microdeletion syndrome",["Distal del(17)(p13.1)"]],[319182,"Wiedemann-Steiner syndrome",["Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"]],[319189,"Familial cortical myoclonus"],[319192,"Diencephalic-mesencephalic junction dysplasia"],[319195,"Chondroectodermal dysplasia with night blindness"],[319199,"Autosomal recessive spastic paraplegia type 53",["SPG53"]],[319205,"Bilateral massive adrenal hemorrhage",["BMAH","Bilateral adrenal hemorrhage"]],[319213,"Lujo hemorrhagic fever",["Zambian hemorrhagic fever"]],[319218,"Ebola hemorrhagic fever",["EHF","Ebola fever","Ebola virus disease"]],[319223,"Argentine hemorrhagic fever",["Argentinian hemorrhagic fever","Junin hemorrhagic fever"]],[319229,"Bolivian hemorrhagic fever",["Machupo hemorrhagic fever"]],[319234,"Venezuelan hemorrhagic fever",["Guanarito hemorrhagic fever"]],[319239,"Brazilian hemorrhagic fever",["Sabia hemorrhagic fever"]],[319244,"Chapare hemorrhagic fever"],[319247,"Hantavirus pulmonary syndrome"],[319251,"Rift valley fever"],[319254,"Kyasanur forest disease",["Kyasanur hemorrhagic fever","Monkey disease","Monkey fever"]],[319266,"Omsk hemorrhagic fever"],[319276,"Clear cell renal carcinoma",["CCRCC","Clear cell renal cell adenocarcinoma","Clear cell renal cell carcinoma"]],[319287,"Multilocular cystic renal neoplasm of low malignant potential",["MCRCC","Multilocular clear cell adenocarcinoma","Multilocular clear cell carcinoma","Multilocular clear cell renal cell adenocarcinoma","Multilocular clear cell renal cell carcinoma","Multilocular cystic renal cell adenocarcinoma","Multilocular cystic renal cell carcinoma"]],[319298,"Papillary renal cell carcinoma",["Papillary renal cell adenocarcinoma"]],[319303,"Chromophobe renal cell carcinoma",["Chromophobe renal cell adenocarcinoma"]],[319308,"MiT family translocation renal cell carcinoma",["Carcinoma associated with MITF/TFE translocation","Translocation renal cell carcinoma"]],[319314,"OBSOLETE: Renal cell carcinoma associated with neuroblastoma",["OBSOLETE: Renal cell carcinoma after neuroblastoma"]],[319319,"Renal medullary carcinoma"],[319322,"Mucinous tubular and spindle cell renal carcinoma"],[319325,"Tubulocystic renal cell carcinoma"],[319328,"Inherited renal cancer-predisposing syndrome"],[319332,"Autosomal recessive myogenic arthrogryposis multiplex congenita",["Autosomal recessive myogenic AMC","SYNE1-related AMC","SYNE1-related arthrogryposis multiplex congenita"]],[319340,"Carney complex-trismus-pseudocamptodactyly syndrome",["Carney complex variant"]],[319462,"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"],[319465,"Inherited acute myeloid leukemia",["Familial AML","Inherited AML","Pure familial AML","Pure familial acute myeloid leukemia"]],[319480,"Acute myeloid leukemia with CEBPA somatic mutations",["AML with CEBPA somatic mutations"]],[319487,"Familial papillary or follicular thyroid carcinoma",["FNMTC","Familial pure nonmedullary thyroid carcinoma"]],[319494,"Familial nonmedullary thyroid carcinoma"],[319504,"Combined oxidative phosphorylation defect type 8",["COXPD8"]],[319509,"Combined oxidative phosphorylation defect type 9",["COXPD9"]],[319514,"Combined oxidative phosphorylation defect type 13",["COXPD13"]],[319519,"Combined oxidative phosphorylation defect type 14",["COXPD14"]],[319524,"Combined oxidative phosphorylation defect type 15",["COXPD15"]],[319535,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency",["Autosomal recessive MSMD due to a complete deficiency"]],[319539,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency",["Autosomal recessive MSMD due to a partial deficiency"]],[319543,"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency",["Autosomal dominant MSMD due to a partial deficiency"]],[319547,"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency",["MSMD due to complete IFNgammaR2 deficiency","MSMD due to complete interferon gamma receptor 2 deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency"]],[319552,"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency",["MSMD due to complete IL12RB1 deficiency","MSMD due to complete interleukin 12 receptor beta 1 deficiency","Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"]],[319558,"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency",["MSMD due to complete IL12B deficiency","MSMD due to complete interleukin 12B deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"]],[319563,"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency",["MSMD due to complete ISG15 deficiency"]],[319569,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",["Autosomal recessive MSMD due to partial IFNgammaR1 deficiency","Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency","Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"]],[319574,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency",["Autosomal recessive MSMD due to partial IFNgammaR2 deficiency","Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency","Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"]],[319581,"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",["Autosomal dominant MSMD due to partial IFNgammaR1 deficiency","Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency","Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"]],[319589,"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency",["Autosomal dominant MSMD due to partial IFNgammaR2 deficiency","Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency","Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"]],[319595,"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency",["MSMD due to partial STAT1 deficiency","MSMD due to partial signal transducer and activator of transcription 1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency"]],[319600,"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",["MSMD due to partial IRF8 deficiency","MSMD due to partial interferon regulatory factor 8 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"]],[319605,"X-linked mendelian susceptibility to mycobacterial diseases",["X-linked MSMD"]],[319612,"OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency",["OBSOLETE: X-linked MSMD due to IKBKG deficiency","OBSOLETE: X-linked MSMD due to NEMO deficiency","OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency"]],[319623,"OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency",["OBSOLETE: X-linked MSMD due to CYBB deficiency"]],[319635,"Amyloidosis cutis dyschromia",["Amyloidosis cutis dyschromica"]],[319640,"Retinal macular dystrophy type 2",["Autosomal dominant bull's-eye macular dystrophy","MCDR2","PROM1-related retinal macular dystrophy"]],[319646,"PGM1-CDG",["CDG syndrome type It","CDG-It","CDG1T","Congenital disorder of glycosylation type 1t","Congenital disorder of glycosylation type It","PGM1-related congenital disorder of glycosylation","Phosphoglucomutase-1 deficiency"]],[319651,"Constitutional megaloblastic anemia with severe neurologic disease",["DHFR deficiency","Dihydrofolate reductase deficiency"]],[319658,"NON RARE IN EUROPE: Unexplained intellectual disability"],[319667,"Primary lymphoma of the conjunctiva",["Primary lymphoid conjunctival tumor"]],[319671,"Alazami syndrome",["Microcephalic primordial dwarfism, Alazami type"]],[319675,"Microcephalic primordial dwarfism, Dauber type"],[319678,"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"],[319681,"NON RARE IN EUROPE: Lactase non-persistence in adulthood"],[319684,"NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency"],[319691,"NON RARE IN EUROPE: Partial color blindness, protan type",["NON RARE IN EUROPE: Partial achromatopsia, protan type","NON RARE IN EUROPE: Protanopia"]],[319698,"NON RARE IN EUROPE: Partial color blindness, deutan type",["NON RARE IN EUROPE: Deuteranopia","NON RARE IN EUROPE: Partial achromatopsia, deutan type"]],[319705,"NON RARE IN EUROPE: Parkinson disease"],[319719,"Autoinflammatory syndrome of childhood"],[320317,"OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome"],[320332,"X-linked pure spastic paraplegia"],[320335,"Pure or complex hereditary spastic paraplegia",["Pure or complex familial spastic paraplegia","Pure or complicated familial spastic paraplegia","Pure or complicated hereditary spastic paraplegia"]],[320342,"Pure or complex autosomal dominant spastic paraplegia",["Pure or complicated autosomal dominant spastic paraplegia"]],[320346,"Pure or complex autosomal recessive spastic paraplegia",["Pure or complicated autosomal recessive spastic paraplegia"]],[320350,"Pure or complex X-linked spastic paraplegia",["Pure or complicated X-linked spastic paraplegia"]],[320355,"Autosomal dominant spastic paraplegia type 41",["SPG41"]],[320360,"MT-ATP6-related mitochondrial spastic paraplegia",["Maternally-inherited SPG","Maternally-inherited spastic paraplegia"]],[320365,"Autosomal dominant spastic paraplegia type 36",["SPG36"]],[320370,"Autosomal recessive spastic paraplegia type 43",["SPG43"]],[320375,"Autosomal recessive spastic paraplegia type 55",["SPG55"]],[320380,"Autosomal recessive spastic paraplegia type 54",["SPG54"]],[320385,"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation",["Autosomal recessive spastic paraplegia type 49","HSAN due to TECPR2 mutation","SPG49"]],[320391,"Autosomal recessive spastic paraplegia type 46",["SPG46"]],[320396,"Autosomal recessive spastic paraplegia type 45",["Autosomal recessive spastic paraplegia type 65","SPG45","SPG65"]],[320401,"Autosomal recessive spastic paraplegia type 44",["SPG44"]],[320406,"Spastic paraplegia-optic atrophy-neuropathy syndrome",["SPOAN"]],[320411,"Autosomal recessive spastic paraplegia type 56",["SPG56"]],[322126,"Genetic tumor of hematopoietic and lymphoid tissues"],[324262,"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency",["Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency","Autosomal recessive spinocerebellar ataxia type 13","SCAR13"]],[324290,"PRDM8-related progressive myoclonus epilepsy",["Early-onset Lafora body disease"]],[324294,"T-cell immunodeficiency with epidermodysplasia verruciformis",["T-cell immunodeficiency due to RHOH deficiency"]],[324299,"EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome",["EPAS1-related polycythemia-PPGL syndrome","Paraganglioma-somatostatinoma-polycythemia syndrome"]],[324307,"Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome"],[324313,"9p13 microdeletion syndrome",["Del(9)(p13)","Monosomy 9p13"]],[324321,"Sinoatrial node dysfunction and deafness",["Sinoatrial node dysfunction and hearing loss"]],[324353,"Congenital achiasma"],[324364,"Mixed sclerosing bone dystrophy with extra-skeletal manifestations"],[324381,"Hereditary inclusion body myopathy type 4",["HIBM4"]],[324410,"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"],[324416,"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"],[324422,"ALG13-CDG",["CDG syndrome type Is","CDG-Is","CDG1S","Congenital disorder of glycosylation type 1s","Congenital disorder of glycosylation type Is"]],[324442,"Autosomal recessive axonal neuropathy with neuromyotonia",["ARAN-NM","ARCMT2-NM","Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia"]],[324525,"Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation",["Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation","Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation"]],[324530,"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation",["APLAID"]],[324535,"Combined oxidative phosphorylation defect type 11",["COXPD11"]],[324540,"Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome",["Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome","Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome"]],[324561,"Hypopigmentation-punctate palmoplantar keratoderma syndrome",["Cole disease","Guttate hypopigmentation and punctate palmoplantar keratoderma","Hypopigmentation and punctate keratosis of the palms and soles"]],[324569,"Pontocerebellar hypoplasia type 8",["PCH8","Pontocerebellar hypoplasia due to CHMP1A mutation"]],[324575,"Hyperinsulinism due to HNF1A deficiency",["Hyperinsulinemic hypoglycemia due to HNF1A deficiency"]],[324581,"Benign Samaritan congenital myopathy"],[324585,"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain",["Autosomal dominant intermediate CMT disease with neuropathic pain"]],[324588,"Familial dyskinesia and facial myokymia",["FDFM"]],[324601,"X-linked cleft palate and ankyloglossia"],[324604,"Classic multiminicore myopathy",["Classic MmD","Classic multiminicore disease"]],[324611,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation",["CMT2 due to KIF5A mutation"]],[324625,"Chikungunya"],[324632,"Hendra virus infection"],[324636,"Autoerythrocyte sensitization syndrome",["GDS","Gardner-Diamond syndrome","Painful bruising syndrome","Psychogenic purpura"]],[324648,"Invasive non-typhoidal salmonellosis",["Invasive non-typhoidal salmonella disease","iNTS disease"]],[324703,"ABetaL34V amyloidosis",["ABeta amyloidosis, Piedmont type","ABetaL34V-related amyloidosis","HCHWA, Piedmont type","Hereditary cerebral hemorrhage with amyloidosis, Piedmont type"]],[324708,"ABeta amyloidosis, Iowa type",["ABetaD23N amyloidosis","HCHWA, Iowa type","Hereditary cerebral hemorrhage with amyloidosis, Iowa type"]],[324713,"ABeta amyloidosis, Italian type",["ABetaE22K amyloidosis","HCHWA, Italian type","Hereditary cerebral hemorrhage with amyloidosis, Italian type"]],[324718,"ABetaA21G amyloidosis",["ABeta amyloidosis, Flemish type","ABetaA21G-related amyloidosis","HCHWA, Flemish type","Hereditary cerebral hemorrhage with amyloidosis, Flemish type"]],[324723,"ABeta amyloidosis, Arctic type",["ABetaE22G amyloidosis","HCHWA, Arctic type","Hereditary cerebral hemorrhage with amyloidosis, Arctic type"]],[324737,"SRD5A3-CDG",["CDG syndrome type Iq","CDG-Iq","CDG1Q","Congenital disorder of glycosylation type 1q","Congenital disorder of glycosylation type Iq"]],[324761,"Microcephalic primordial dwarfism"],[324764,"Trichorhinophalangeal syndrome"],[324767,"Non-familial rare disease with dilated cardiomyopathy"],[324924,"Hereditary periodic fever syndrome"],[324927,"Pyogenic autoinflammatory syndrome"],[324930,"Granulomatous autoinflammatory syndrome"],[324933,"Mixed autoinflammatory and autoimmune syndrome"],[324936,"Unclassified autoinflammatory syndrome"],[324939,"Periodic fever syndrome of childhood"],[324942,"Pyogenic autoinflammatory syndrome of childhood"],[324950,"Granulomatous autoinflammatory syndrome of childhood"],[324953,"Unclassified autoinflammatory syndrome of childhood"],[324960,"Unexplained periodic fever syndrome of childhood"],[324964,"Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis",["CNO/CRMO"]],[324972,"MAGIC syndrome",["Mouth and genital ulcers-inflamed cartilage syndrome"]],[324977,"Proteasome-associated autoinflammatory syndrome",["ALDD syndrome","Autoinflammation-lipodystrophy-dermatosis syndrome","PRAAS","Proteasome disability syndrome"]],[324982,"OBSOLETE: Adult-onset SAPHO syndrome",["OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome"]],[324989,"OBSOLETE: Juvenile-onset SAPHO syndrome",["OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome"]],[324999,"JMP syndrome",["Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome"]],[325004,"CANDLE syndrome",["Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome"]],[325055,"46,XX disorder of gonadal development"],[325061,"46,XX difference of sex development induced by fetoplacental androgens excess",["46,XX DSD induced by fetoplacental androgens excess","46,XX disorder of sex development induced by fetoplacental androgens excess"]],[325093,"46,XX difference of sex development induced by endogenous maternal-derived androgen",["46,XX DSD induced by endogenous maternal-derived androgen","46,XX disorder of sex development induced by endogenous maternal-derived androgen"]],[325099,"46,XX difference of sex development induced by exogenous maternal-derived androgen",["46,XX DSD induced by exogenous maternal-derived androgen","46,XX disorder of sex development induced by exogenous maternal-derived androgen"]],[325109,"Syndrome with 46,XX difference of sex development",["Syndrome with 46,XX DSD","Syndrome with 46,XX disorder of sex development"]],[325118,"46,XY disorder of gonadal development"],[325124,"Testicular agenesis",["Bilateral anorchia"]],[325345,"46,XY ovotesticular difference of sex development",["46,XY ovotesticular DSD","46,XY ovotesticular disorder of sex development"]],[325351,"46,XY difference of sex development of endocrine origin",["46,XY DSD of endocrine origin","46,XY disorder of sex development of endocrine origin"]],[325357,"46,XY difference of sex development due to impaired androgen production",["46,XY DSD due to impaired androgen production","46,XY disorder of sex development due to impaired androgen production"]],[325448,"Leydig cell hypoplasia due to LHB deficiency",["46,XY DSD due to LHB deficiency","46,XY DSD due to luteinizing hormone subunit beta deficiency","46,XY disorder of sex development due to LHB deficiency","46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency","Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency"]],[325511,"46,XY difference of sex development due to a cholesterol synthesis defect",["46,XY DSD due to a cholesterol synthesis defect","46,XY disorder of sex development due to a cholesterol synthesis defect"]],[325524,"Classic congenital lipoid adrenal hyperplasia due to STAR deficency",["Classic CLAH"]],[325529,"Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"],[325537,"46,XY difference of sex development induced by maternal exposure to endocrine disruptors",["46,XY DSD induced by maternal-exposure to endocrine disruptors","46,XY disorder of sex development induced by maternal exposure to endocrine disruptors"]],[325546,"Sex chromosome difference of sex development",["Sex chromosome DSD","Sex chromosome disorder of sex development"]],[325620,"Difference of sex development of gynecological interest",["DSD of gynecological interest","Disorder of sex development of gynecological interest"]],[325632,"46,XY difference of sex development of gynecological interest",["46,XY DSD of gynecological interest","46,XY disorder of sex development of gynecological interest"]],[325638,"Syndrome with difference of sex development of gynecological interest",["Syndrome with DSD of gynecological interest","Syndrome with disorder of sex development of gynecological interest"]],[325665,"Genetic difference of sex development of gynecological interest",["Genetic DSD of gynecological interest","Genetic disorder of sex development of gynecological interest"]],[325690,"Genetic difference of sex development",["Genetic DSD","Genetic disorder of sex development"]],[325697,"Genetic 46,XX difference of sex development",["Genetic 46,XX DSD","Genetic 46,XX disorder of sex development"]],[325706,"Genetic 46,XY difference of sex development",["Genetic 46,XY DSD","Genetic 46,XY disorder of sex development"]],[325713,"Genetic 46,XY difference of sex development of endocrine origin",["Genetic 46,XY DSD of endocrine origin","Genetic 46,XY disorder of sex development of endocrine origin"]],[328269,"OBSOLETE: Rare bone disease with limb reduction defect",["OBSOLETE: Rare bone disease with limb hypoplasia"]],[329173,"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"],[329178,"Congenital muscular dystrophy with intellectual disability and severe epilepsy",["CDG syndrome type Iu","CDG-Iu","CDG1U","CMD with intellectual disability and severe epilepsy","Carbohydrate deficient glycoprotein syndrome type Iu","Congenital disorder of glycosylation type 1u","Congenital disorder of glycosylation type Iu","DPM2-CDG"]],[329191,"Tall stature-long halluces-multiple extra-epiphyses syndrome",["Tall stature-scoliosis-macrodactyly of the halluces syndrome"]],[329195,"Developmental delay with autism spectrum disorder and gait instability",["Developmental delay with ASD and gait instability"]],[329206,"OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome",["OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome"]],[329211,"Autosomal dominant neovascular inflammatory vitreoretinopathy",["ADNIV"]],[329217,"Cerebral sinovenous thrombosis",["CSVT"]],[329224,"Schuurs-Hoeijmakers syndrome",["PACS1-related NDD","PACS1-related neurodevelopmental disorder","PACS1-related syndrome"]],[329228,"Microcephalic primordial dwarfism due to ZNF335 deficiency",["Microcephalic primordial dwarfism, Walsh type"]],[329235,"X-linked central congenital hypothyroidism with late-onset testicular enlargement",["IGSF1 deficiency syndrome","X-linked central congenital hypothyroidism with late-onset macroorchidism"]],[329242,"Congenital chronic diarrhea with protein-losing enteropathy",["Congenital chronic diarrhea with exudative enteropathy"]],[329249,"Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"],[329252,"OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome"],[329255,"Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency"],[329258,"Autosomal dominant Charcot-Marie-Tooth disease type 2Q",["CMT2Q"]],[329284,"Beta-propeller protein-associated neurodegeneration",["BPAN","NBIA5","Neurodegeneration with brain iron accumulation type 5","SENDA","Static encephalopathy of childhood with neurodegeneration in adulthood"]],[329303,"PLA2G6-related neurodegeneration",["PLA2G6-associated neurodegeneration","PLAN"]],[329308,"Fatty acid hydroxylase-associated neurodegeneration",["FAHN"]],[329314,"Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency",["Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency"]],[329319,"Thrombocythemia with distal limb defects",["Familial thrombocytosis with transverse limb defect","Hereditary thrombocytosis with transverse limb defect"]],[329324,"Inverse Klippel-Trénaunay syndrome",["Cutaneous hemangioma with muscle or bone atrophy"]],[329329,"Autosomal recessive frontotemporal pachygyria"],[329332,"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome",["Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome"]],[329336,"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",["Adult-onset CPEO with mitochondrial myopathy"]],[329341,"OBSOLETE: Limbic encephalitis with DPP6 antibodies",["OBSOLETE: Limbic encephalitis with DPPX antibodies","OBSOLETE: Limbic encephalitis with dipeptidyl-peptidase 6 antibodies"]],[329457,"Distal arthrogryposis type 5D",["Distal arthrogryposis type 5 without ophthalmoplegia","DA5D","Distal arthrogryposis type 5 without ophthalmoparesis"]],[329466,"Autosomal dominant focal dystonia, DYT25 type",["DYT25","Dystonia 25"]],[329469,"Acute megakaryoblastic leukemia in children without Down syndrome",["Acute megakaryoblastic leukemia in children without trisomy 21","Non-DS-AMKL"]],[329475,"Spastic paraplegia-Paget disease of bone syndrome"],[329478,"Adult-onset distal myopathy due to VCP mutation"],[329481,"Lipoprotein glomerulopathy",["LPG"]],[329802,"5p13 microduplication syndrome",["Dup(5)(p13)","Trisomy 5p13"]],[329813,"Mosaic genome-wide paternal uniparental disomy syndrome",["Androgenetic/biparental mosaicism","Genome-wide paternal uniparental disomy mosaicism","Mosaic genome-wide paternal UPD"]],[329874,"Idiopathic giant cell myocarditis",["IGCM"]],[329883,"Non-hypoproteinemic hypertrophic gastropathy",["Hypertrophic gastropathy without hypoproteinemia"]],[329888,"Juvenile idiopathic inflammatory myopathy",["JIIM"]],[329894,"Juvenile overlap myositis"],[329903,"Immunoglobulin-mediated membranoproliferative glomerulonephritis",["Ig-mediated MPGN","Ig-mediated membranoproliferative glomerulonephritis","Immunoglobulin-mediated MPGN"]],[329918,"C3 glomerulopathy",["Non-Ig-mediated MPGN","Non-Ig-mediated membranoproliferative glomerulonephritis","Non-immunoglobulin-mediated MPGN","Non-immunoglobulin-mediated membranoproliferative glomerulonephritis"]],[329931,"C3 glomerulonephritis"],[329942,"Transient neonatal multiple acyl-CoA dehydrogenase deficiency",["Transient neonatal MAD deficiency","Transient neonatal MADD","Transient neonatal glutaric acidemia type 2","Transient neonatal glutaric aciduria type 2"]],[329967,"Intermittent hydrarthrosis"],[329971,"Generalized juvenile polyposis/juvenile polyposis coli"],[329977,"Classic neuroendocrine tumor of appendix",["Classic appendiceal neuroendocrine tumor","Classic appendix neuroendocrine tumor"]],[329984,"Goblet cell carcinoma",["GCC","Goblet cell adenocarcinoid","Goblet cell carcinoid","Goblet cell tumor"]],[329998,"OBSOLETE: Lymphomatous meningitis"],[330001,"Wild type ATTR amyloidosis",["ATTRwt amyloidosis","ATTRwt-related amyloidosis","Senile systemic amyloidosis","Wild type ATTR-related amyloidosis"]],[330006,"NON RARE IN EUROPE: Macular telangiectasia type 2"],[330009,"OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk"],[330012,"High altitude pulmonary edema",["HAPE"]],[330015,"Lead poisoning",["Lead intoxication","Plumbism","Saturnism"]],[330021,"Mercury poisoning",["Hydrargyria","Mercurialism","Mercury intoxication"]],[330029,"Hypotrichosis-deafness syndrome",["Hypotrichosis-hearing loss syndrome"]],[330032,"Hemoglobin Lepore-beta-thalassemia syndrome",["HbLepore-beta-thalassemia syndrome","Lepore-beta-thalassemia syndrome"]],[330041,"Hemoglobin M disease",["Autosomal dominant methemoglobinemia","M hemoglobinopathy"]],[330050,"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"],[330054,"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome",["Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome"]],[330058,"Hydroa vacciniforme"],[330061,"Actinic prurigo",["Familial polymorphous light eruption of American Indians","Hereditary polymorphous light eruption of American Indians","Hutchinson summer prurigo","Hydroa aestivale"]],[330064,"Chronic actinic dermatitis",["Actinic reticuloid","Chronic photosensitivity dermatitis"]],[330197,"OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",["OBSOLETE: Genetic MCA/variable MR","OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"]],[330206,"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability",["Genetic MCA","Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)"]],[331176,"Severe congenital neutropenia due to G6PC3 deficiency",["SCN due to G6PC3 deficiency","SCN4","Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency","Severe congenital neutropenia type 4","Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"]],[331184,"Syndrome with congenital neutropenia as a major feature",["Syndrome with constitutional neutropenia as a major feature","Syndrome with genetic neutropenia as a major feature"]],[331187,"Immunodeficiency due to MASP-2 deficiency"],[331190,"Immunodeficiency due to ficolin3 deficiency"],[331193,"Other immunodeficiency syndromes due to defects in innate immunity"],[331206,"T-B-NK+ severe combined immunodeficiency due to complete RAG1/2 deficiency",["T-B-NK+ SCID due to complete RAG1/2 deficiency"]],[331217,"Syndrome with combined immunodeficiency"],[331220,"Syndome with combined immunodeficiency due to thymic defect"],[331223,"Hyper-IgE syndrome"],[331226,"Susceptibility to infection due to TYK2 deficiency"],[331232,"Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells"],[331235,"Selective IgM deficiency",["Selective immunoglobulin M deficiency"]],[331240,"Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells"],[331244,"OBSOLETE: Other immunodeficiency syndrome with predominantly antibody defects"],[331249,"Primary hemophagocytic lymphohistiocytosis with hypopigmentation",["Genetic HLH with hypopigmentation","Genetic hemophagocytic lymphohistiocytosis with hypopigmentation","Primary HLH with hypopigmentation"]],[352298,"OBSOLETE: Genetic muscular channelopathy"],[352301,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis"],[352306,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement"],[352309,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement"],[352312,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement"],[352328,"MEGDEL syndrome",["3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome","3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome"]],[352333,"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome",["Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome","ELOVL4-related neuro ichthyosis"]],[352403,"Spectrin-associated autosomal recessive cerebellar ataxia",["Autosomal recessive spinocerebellar ataxia type 14","Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome","SCAR14","SPARCA","SPARCA1","Spectrin-associated autosomal recessive cerebellar ataxia type 1"]],[352447,"Progressive external ophthalmoplegia-myopathy-emaciation syndrome",["Mitochondrial DNA maintenance syndrome due to MGME1 deficiency","PEO-myopathy-emaciation syndrome","mtDNA maintenance syndrome due to MGME1 deficiency"]],[352456,"Mitochondrial DNA maintenance syndrome",["mtDNA maintenance syndrome"]],[352470,"DNA2-related mitochondrial DNA deletion syndrome",["Mitochondrial DNA deletion syndrome with limb-girdle weakness","Mitochondrial DNA deletion syndrome with progressive myopathy","mtDNA deletion syndrome with limb-girdle weakness","mtDNA deletion syndrome with progressive myopathy"]],[352479,"ISPD-related limb-girdle muscular dystrophy R20",["Limb-girdle muscular dystrophy type 2U","Autosomal recessive limb-girdle muscular dystrophy type 2U","ISPD-related LGMD R20","LGMD type 2U","LGMD2U"]],[352482,"OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement",["OBSOLETE: Autosomal recessive LGMD with cerebellar involvement"]],[352487,"Digital anomalies-intellectual disability-short stature syndrome"],[352490,"Autism spectrum disorder due to AUTS2 deficiency",["ASD due to AUTS2 deficiency","AUTS2 syndrome"]],[352497,"OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency"],[352504,"OBSOLETE: Levodopa-unresponsive juvenile parkinsonism",["OBSOLETE: L-DOPA-unresponsive juvenile parkinsonism"]],[352530,"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome",["Autosomal recessive intellectual disability due to TRAPPC9 deficiency"]],[352540,"Oncogenic osteomalacia",["Oncogenic hypophosphatemic osteomalacia","TIO","Tumor-induced osteomalacia"]],[352563,"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency",["COXPD16","Combined oxidative phosphorylation defect type 16"]],[352577,"Bainbridge-Ropers syndrome",["Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"]],[352582,"Familial infantile myoclonic epilepsy",["FIME","Familial infantile myoclonus epilepsy"]],[352587,"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation",["Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome"]],[352596,"Progressive myoclonic epilepsy with dystonia",["PMED","Progressive myoclonus epilepsy with dystonia"]],[352613,"Male infertility due to NANOS1 mutation"],[352629,"16q24.1 microdeletion syndrome",["Del(16)(q24.1)","Monosomy 16q24.1"]],[352636,"Phalangeal microgeodic syndrome",["Phalangeal osteolysis"]],[352641,"Autosomal recessive cerebellar ataxia with late-onset spasticity",["Autosomal recessive cerebellar ataxia due to GBA2 deficiency"]],[352649,"Brain dopamine-serotonin vesicular transport disease"],[352654,"Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome",["Spastic paraplegia type 79"]],[352657,"Hereditary benign intraepithelial dyskeratosis",["HBID","Hereditary benign corneal intraepithelial dyskeratosis"]],[352662,"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"],[352665,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion",["9q21.3 microdeletion syndrome","Del(9)(q21.3)"]],[352670,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F",["CMTDIF"]],[352675,"X-linked Charcot-Marie-Tooth disease type 6",["CMT6X","CMTX6"]],[352682,"Cobblestone lissencephaly without muscular or ocular involvement",["Cobblestone lissencephaly without muscular or eye involvement","Lissencephaly type 2 without muscular or eye involvement","Lissencephaly type 2 without muscular or ocular involvement"]],[352687,"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies",["Lissencephaly type 2 with muscular and ocular involvement","MDDGA"]],[352694,"OBSOLETE: Cobblestone lissencephaly type A",["OBSOLETE: Lissencephaly type 2A"]],[352699,"OBSOLETE: Cobblestone lissencephaly type C",["OBSOLETE: Lissencephaly type 2C"]],[352704,"OBSOLETE: Cobblestone lissencephaly type B",["OBSOLETE: Lissencephaly type 2B"]],[352709,"CLN13 disease",["Kufs disease type B","NCL13","Neuronal ceroid lipofuscinosis type 13"]],[352712,"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome",["FILS syndrome"]],[352718,"Progressive retinal dystrophy due to retinol transport defect",["Retinol dystrophy-iris coloboma-comedogenic acne syndrome"]],[352723,"Attenuated Chédiak-Higashi syndrome",["Atypical Chédiak-Higashi syndrome"]],[352728,"Disorder of melanin metabolism"],[352731,"Oculocutaneous albinism type 1",["OCA1"]],[352734,"Minimal pigment oculocutaneous albinism type 1",["OCA1-MP","MP OCA type 1"]],[352737,"Temperature-sensitive oculocutaneous albinism type 1",["OCA1-TS","TS OCA type 1"]],[352740,"Ocular albinism with congenital sensorineural deafness",["Ocular albinism with congenital sensorineural hearing loss","Waardenburg syndrome type 2 with ocular albinism"]],[352745,"Oculocutaneous albinism type 7",["OCA7"]],[352763,"Scleredema",["Buschke scleredema"]],[353217,"Epileptic encephalopathy with global cerebral demyelination",["AGC1 deficiency","Mitochondrial aspartate-glutamate carrier 1 deficiency"]],[353220,"Familial primary localized cutaneous amyloidosis",["FPLCA"]],[353225,"NON RARE IN EUROPE: Primary adult open-angle glaucoma",["NON RARE IN EUROPE: POAG"]],[353253,"Burning mouth syndrome",["BMS","Oral dysesthesia","Orodynia","Stomatodynia","Stomatopyrosis"]],[353277,"Rubinstein-Taybi syndrome due to CREBBP mutations"],[353281,"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"],[353284,"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"],[353298,"Roifman syndrome",["Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome"]],[353308,"Pyruvate carboxylase deficiency, infantile type",["Pyruvate carboxylase deficiency type A"]],[353314,"Pyruvate carboxylase deficiency, severe neonatal type",["Pyruvate carboxylase deficiency type B"]],[353320,"Pyruvate carboxylase deficiency, benign type",["Pyruvate carboxylase deficiency type C"]],[353327,"Congenital myasthenic syndrome with glycosylation defect"],[353334,"Congenital retinal arteriovenous communication",["Congenital arteriovenous anastomoses of the retina","Congenital arteriovenous communication of the retina","Congenital retinal arteriovenous anastomoses"]],[353344,"Idiopathic macular telangiectasia type 1",["Aneurysmal telangiectasia","Visible and exudative idiopathic juxtafoveolar retinal telangiectasis"]],[353351,"Idiopathic macular telangiectasia type 3",["Occlusive idiopathic juxtafoveolar retinal telangiectasis"]],[353356,"Vasoproliferative tumor of the retina",["Retinal vasoproliferative tumor","VPTR","Vasoproliferative tumor of the ocular fundus"]],[356947,"3q26q27 microdeletion syndrome",["Del(3)(q26q27)","Monosomy 3q26q27"]],[356961,"SLC35A2-CDG",["CDG-IIm","CDG2M","Congenital disorder of glycosylation type 2m","Congenital disorder of glycosylation type IIm","CDG syndrome type IIm"]],[356978,"D,L-2-hydroxyglutaric aciduria",["D,L-2-hydroxyglutaric acidemia","Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia","Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria","D,L-2-HGA"]],[356996,"ANK3-related intellectual disability-sleep disturbance syndrome"],[357001,"19p13.13 microdeletion syndrome",["Del(19)(p13.13)","Monosomy 19p13.13"]],[357008,"Hemolytic uremic syndrome with DGKE deficiency",["HUS with DGKE deficiency"]],[357027,"Hereditary retinoblastoma"],[357034,"Non-hereditary retinoblastoma"],[357043,"Amyotrophic lateral sclerosis type 4",["ALS4","Distal hereditary motor neuropathy with upper motor neuron signs","dHMN with upper motor neuron signs"]],[357058,"Autosomal recessive cutis laxa type 2A",["ARCL2A"]],[357064,"Autosomal recessive cutis laxa type 2B",["ARCL2, progeroid type","ARCL2B","Autosomal recessive cutis laxa type 2, progeroid type"]],[357074,"Autosomal recessive cutis laxa type 2, classic type",["ARCL2, Debré type","ARCL2, classic type","Autosomal recessive cutis laxa type 2, Debré type"]],[357107,"Arterial thoracic outlet syndrome",["ATOS","Arterial TOS","Arterial cervical rib syndrome","Arterial costoclavicular syndrome","Arterial hyperabduction syndrome","Arterial scalenus anticus syndrome","Arterial thoracic outlet compression syndrome"]],[357131,"Venous thoracic outlet syndrome",["Venous scalenus anticus syndrome","Venous thoracic outlet compression syndrome","Effort subclavian vein thrombosis","Paget-Schrotter disease","VTOS","Venous TOS","Venous cervical rib syndrome","Venous costoclavicular syndrome","Venous hyperabduction syndrome"]],[357154,"Oral submucous fibrosis",["OSMF"]],[357158,"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome",["Macroblepharon-ectropion-hypertelorism-macrostomia syndrome"]],[357175,"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome"],[357220,"Primary essential cutis verticis gyrata"],[357225,"Primary non-essential cutis verticis gyrata"],[357237,"Combined immunodeficiency due to CARD11 deficiency",["CID due to CARD11 deficiency","Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency"]],[357329,"Combined immunodeficiency due to IL21R deficiency",["CID due to IL21R deficiency","Combined immunodeficiency due to interleukin 21 receptor deficiency"]],[357332,"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome",["Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome","Wahab syndrome"]],[357502,"Idiopathic nephrotic syndrome"],[357506,"Genetic non-syndromic renal or urinary tract malformation"],[363189,"Congenital anomaly of the great veins"],[363203,"Ring chromosome syndrome"],[363245,"Genetic progeroid syndrome"],[363250,"Ciliopathy"],[363266,"OBSOLETE: Rare hereditary iron overload disease"],[363294,"Genetic syndromic Pierre Robin syndrome"],[363300,"Genetic intractable diarrhea of infancy"],[363306,"Genetic intestinal disease due to fat malabsorption"],[363314,"Genetic intestinal polyposis",["Familial intestinal polyposis"]],[363396,"High myopia-sensorineural deafness syndrome",["High myopia-sensorineural hearing loss syndrome"]],[363400,"Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome",["Celia disease","Celia encephalopathy","Severe neurodegenerative syndrome due to BSCL2 deficiency"]],[363409,"Fetal akinesia-cerebral and retinal hemorrhage syndrome",["LCCS5","Lethal congenital contracture syndrome type 5"]],[363412,"Hypomyelination with brain stem and spinal cord involvement and leg spasticity",["HBSL"]],[363417,"Temtamy preaxial brachydactyly syndrome"],[363424,"Multiple mitochondrial dysfunctions syndrome type 3",["IBA57 deficiency","MMDS3"]],[363429,"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"],[363432,"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency",["Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency","SCAR18"]],[363444,"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome",["BBIS","Beaulieu-Boycott-Innes syndrome"]],[363447,"Autosomal dominant childhood-onset proximal spinal muscular atrophy",["Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy","SMALED"]],[363454,"BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy",["BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures","SMALED2"]],[363472,"Tumor of testis and paratestis",["Testicular and paratesticular tumor"]],[363478,"Paratesticular adenocarcinoma",["Adenocarcinoma of the paratestis"]],[363483,"Testicular teratoma",["Teratoma of the testis"]],[363489,"Sex cord-stromal tumor of testis",["Testicular sex cord-stromal tumor"]],[363494,"Non-seminomatous germ cell tumor of testis",["Non-dysgerminomatous germ cell tumor of testis","Testicular non seminomatous germ cell tumor","Testicular non-dysgerminomatous germ cell tumor"]],[363504,"Germ cell tumor of testis",["Testicular germ cell tumor"]],[363523,"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome",["Shaheen syndrome"]],[363528,"Intellectual disability-strabismus syndrome"],[363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",["mtDNA depletion syndrome, hepatocerebrorenal form"]],[363540,"Leukoencephalopathy with mild cerebellar ataxia and white matter edema"],[363543,"Autosomal recessive limb-girdle muscular dystrophy type 2R",["Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency","LGMD2R"]],[363549,"Acute encephalopathy with biphasic seizures and late reduced diffusion",["AESD","AIEF","Acute infantile encephalopathy predominantly affecting the frontal lobes"]],[363558,"New-onset refractory status epilepticus",["NORSE"]],[363567,"Acute encephalopathy with inflammation-mediated status epilepticus"],[363579,"Extragonadal germ cell tumor"],[363582,"Gonadal germ cell tumor"],[363611,"CTCF-related neurodevelopmental disorder"],[363618,"LMNA-related cardiocutaneous progeria syndrome",["LCPS"]],[363623,"GMPPB-related limb-girdle muscular dystrophy R19",["Autosomal recessive limb-girdle muscular dystrophy type 2T","GMPPB-related LGMD R19","LGMD type 2T","LGMD2T","Limb-girdle muscular dystrophy type 2T"]],[363629,"OBSOLETE: GMPPB-related congenital muscular dystrophy",["OBSOLETE: GMPPB-related CMD"]],[363649,"Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome",["MDP syndrome","MDPL syndrome","Mandibular hypoplasia-hearing loss-progeroid syndrome"]],[363654,"X-linked parkinsonism-spasticity syndrome",["XPDS"]],[363659,"20q11.2 microduplication syndrome",["Dup(20)(q11.2)"]],[363665,"Acroosteolysis-keloid-like lesions-premature aging syndrome",["Premature aging syndrome, Penttinen type"]],[363677,"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"],[363680,"2p13.2 microdeletion syndrome",["Del(2)(p13.2)"]],[363686,"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"],[363694,"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome",["HUPRA syndrome"]],[363700,"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion",["Von Recklinghausen disease due to NF1 mutation or intragenic deletion"]],[363705,"Craniofaciofrontodigital syndrome",["Cantu craniofaciofrontodigital syndrome"]],[363710,"Spinocerebellar ataxia type 37",["SCA37","Spinocerebellar ataxia with altered vertical eye movements"]],[363717,"Alexander disease type I",["AxD type I"]],[363722,"Alexander disease type II",["AxD type II"]],[363727,"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"],[363741,"Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"],[363746,"Balint syndrome",["Balint-Holmes syndrome","Optic ataxia-gaze apraxia-simultanagnosia syndrome"]],[363958,"17q21.31 microdeletion syndrome",["Del(17)(q21.31)","Monosomy 17q21.31"]],[363965,"Koolen-De Vries syndrome due to a point mutation"],[363969,"Autosomal recessive cerebral atrophy"],[363972,"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia",["CBL syndrome","Noonan syndrome-like disorder with JMML"]],[363976,"Giant cell tumor of bone",["GCT of bone","Osteoclastoma"]],[363981,"Charcot-Marie-Tooth disease type 4B3",["CMT4B3","Charcot-Marie-Tooth disease with focally folded myelin"]],[363989,"Familial benign flecked retina"],[363992,"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome",["15q26.3 microdeletion syndrome"]],[363999,"Non-immune hydrops fetalis",["Non-immune HF","Non-immune fetal edema","Non-immune fetal hydrops","NIHF"]],[364013,"Immune hydrops fetalis",["IHF","Immune HF","Immune fetal edema","Immune fetal hydrops"]],[364028,"X-linked intellectual disability due to GRIA3 mutations"],[364033,"Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood",["Systemic EBV+ T-cell LPD of childhood","Systemic EBV-positive T-cell lymphoproliferative disease of childhood"]],[364039,"Hydroa vacciniforme-like lymphoma",["Angiocentric cutaneous T-cell lymphoma of childhood","HVLL","Hydroa-like cutaneous T-cell lymphoma"]],[364043,"ALK-positive large B-cell lymphoma",["ALK+ LBCL","ALK+ large B-cell lymphoma"]],[364055,"Severe early-childhood-onset retinal dystrophy",["EOSRD","Early-onset severe retinal dystrophy","SECORD"]],[364063,"Infantile epileptic-dyskinetic encephalopathy"],[364198,"Bipartite talus"],[364526,"Primary bone dysplasia",["Primary osteodysplasia","Primary skeletal dysplasia"]],[364531,"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments",["Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments"]],[364536,"Primary bone dysplasia with micromelia",["Primary osteodysplasia with micromelia","Primary skeletal dysplasia with micromelia"]],[364541,"Otopalatodigital syndrome spectrum disorder",["OPD spectrum disorder","OPSD"]],[364559,"Dysostosis"],[364568,"Dysostosis with limb anomaly as a major feature"],[364571,"Dysostosis with limb and face anomalies as a major feature"],[364574,"Acrofacial dysostosis"],[364577,"Intellectual disability-brachydactyly-Pierre Robin syndrome"],[364803,"Rare bone disease related to a common gene or pathway defect"],[364817,"OBSOLETE: Aggrecan-related bone disorder"],[364820,"TRPV4-related bone disorder"],[365563,"Primary short bowel syndrome"],[369837,"Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome",["Congenital disorder of glycosylation due to PIGT deficiency","MCAHS type 3","Multiple congenital anomalies-hypotonia-seizures syndrome type 3","PIGT-CDG"]],[369840,"TRAPPC11-related limb-girdle muscular dystrophy R18",["Autosomal recessive limb-girdle muscular dystrophy type 2S","LGMD type 2S","LGMD2S","Limb-girdle muscular dystrophy type 2S","TRAPPC11-related LGMD R18"]],[369847,"Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"],[369852,"Congenital neutropenia-myelofibrosis-nephromegaly syndrome",["VPS45 deficiency","Vacuolar sorting protein 45 deficiency","Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"]],[369861,"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome",["SIFD syndrome"]],[369867,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type C",["RI-CMT type C"]],[369873,"Obesity due to SIM1 deficiency"],[369881,"2p21 microdeletion syndrome without cystinuria",["Del(2)(p21) without cystinuria"]],[369886,"Homozygous 2p21 microdeletion syndrome",["2p21 contiguous gene deletion syndrome"]],[369891,"Developmental delay-facial dysmorphism syndrome due to MED13L deficiency",["MED13L-related intellectual disability syndrome"]],[369894,"OBSOLETE: Early infantile epileptic encephalopathy without suppression burst"],[369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",["mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"]],[369902,"OBSOLETE: DDX59-related orofaciodigital syndrome"],[369913,"Combined oxidative phosphorylation defect type 17",["COXPD17"]],[369920,"Pontocerebellar hypoplasia type 9",["PCH9"]],[369929,"Primary hyperaldosteronism-seizures-neurological abnormalities syndrome"],[369939,"Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",["Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"]],[369942,"CADDS",["Contiguous ABCD1 DXS1357E deletion syndrome","Zellweger-like contiguous gene deletion syndrome"]],[369950,"Intellectual disability-seizures-macrocephaly-obesity syndrome",["Der(8)t(8;12)"]],[369955,"Methylmalonic acidemia with homocystinuria, type cblJ",["CblJ defects","Cobalamin J defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ","Methylmalonic aciduria with homocystinuria, type cblJ"]],[369962,"Methylmalonic acidemia with homocystinuria, type cblX",["Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX","Methylmalonic aciduria with homocystinuria, type cblX"]],[369970,"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome",["MMCAT syndrome"]],[369979,"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"],[369992,"Severe dermatitis-multiple allergies-metabolic wasting syndrome",["Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome","SAM syndrome"]],[369999,"Diffuse palmoplantar keratoderma with painful fissures"],[370002,"Focal palmoplantar keratoderma with joint keratoses"],[370006,"Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome"],[370010,"Intellectual disability-facial dysmorphism-hand anomalies syndrome"],[370015,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type",["SEMDIST","Spondyloepimetaphyseal dysplasia with severe short stature"]],[370019,"Spondylometaphyseal dysplasia, Czarny-Ratajczak type"],[370022,"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome",["Poretti-Boltshauser syndrome"]],[370026,"Acute myeloid leukemia with t(8;16)(p11;p13) translocation",["AML with t(8;16)(p11;p13) translocation"]],[370034,"Familial syringomyelia"],[370039,"Angora hair nevus",["Schauder syndrome"]],[370046,"Didymosis aplasticosebacea",["Aplasia cutis congenita-nevus sebaceus syndrome"]],[370052,"SCALP syndrome",["Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome","Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome"]],[370059,"NEVADA syndrome",["Nevus epidermicus verrucosus with angiodysplasia and aneurysms"]],[370068,"Fetal anticonvulsant syndrome",["FACS","Fetal AEDS","Fetal antiepileptic drug syndrome"]],[370076,"Fetal carbamazepine syndrome"],[370079,"Proximal 16p11.2 microduplication syndrome",["Proximal dup(16)(p11.2)","Proximal trisomy 16p11.2"]],[370088,"Acute infantile liver failure-multisystemic involvement syndrome"],[370091,"Oculocutaneous albinism type 5",["OCA5"]],[370097,"Oculocutaneous albinism type 6",["OCA6"]],[370103,"Primary dystonia, DYT17 type"],[370106,"Rare disorder with dystonia and other neurologic or systemic manifestation"],[370109,"Ataxia-telangiectasia variant",["v-AT"]],[370114,"Combined cervical dystonia"],[370127,"Medich giant platelet syndrome",["Medich macrothrombocytopenia"]],[370131,"White platelet syndrome"],[370334,"Extraskeletal Ewing sarcoma",["EOE","Extraosseous Ewing sarcoma","Extraosseous Ewing tumor","Extraskeletal Ewing tumor"]],[370348,"Peripheral primitive neuroectodermal tumor",["PPNET","Peripheral PNET","Peripheral neuroepithelioma"]],[370396,"Small cell carcinoma of the ovary",["SCCO","Small cell ovarian carcinoma"]],[370921,"STT3A-CDG",["CDG syndrome type Iw","CDG-Iw","CDG1W","Congenital disorder of glycosylation type 1w","Congenital disorder of glycosylation type Iw"]],[370924,"STT3B-CDG",["CDG syndrome type Ix","CDG-Ix","CDG1X","Carbohydrate deficient glycoprotein syndrome type Ix","Congenital disorder of glycosylation type 1x","Congenital disorder of glycosylation type Ix"]],[370927,"SSR4-CDG",["CDG syndrome type Iy","CDG-Iy","CDG1Y","Carbohydrate deficient glycoprotein syndrome type Iy","Congenital disorder of glycosylation type 1y","Congenital disorder of glycosylation type Iy"]],[370930,"XYLT1-CDG"],[370933,"GM3 synthase deficiency",["ST3GAL5-CDG"]],[370938,"Salt-and-pepper syndrome"],[370943,"Autism spectrum disorder-epilepsy-arthrogryposis syndrome",["SLC35A3-CDG"]],[370953,"Congenital muscular dystrophy due to dystroglycanopathy",["CMD due to dystroglycanopathy"]],[370959,"Congenital muscular dystrophy with cerebellar involvement",["CMD with cerebellar involvement","CMD-CRB"]],[370968,"Congenital muscular dystrophy with intellectual disability",["CMD with intellectual disability","CMD-MR"]],[370980,"Congenital muscular dystrophy without intellectual disability",["CMD without intellectual disability","CMD-no MR","Congenital muscular dystrophy-dystroglycanopathy without intellectual disability"]],[370997,"Muscle-eye-brain disease with bilateral multicystic leucodystrophy",["MEB disease with bilateral multicystic leucodystrophy"]],[371007,"Congenital muscular dystrophy with hyperlaxity",["CMDH"]],[371024,"Qualitative or quantitative defects of alpha-dystroglycan",["Alpha-dystroglycanopathy","Dystroglycanopathy"]],[371040,"Primary qualitative or quantitative defects of alpha-dystroglycan",["Primary alpha-dystroglycanopathy","Primary dystroglycanopathy"]],[371047,"Congenital disorder of glycosylation with neurological involvement",["CDG with neurological involvement"]],[371054,"OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature",["OBSOLETE: X-linked CDG with intellectual disability as a major feature"]],[371064,"OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature",["OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature"]],[371071,"Congenital disorder of glycosylation with epilepsy as a major feature",["CDG with epilepsy as a major feature"]],[371157,"Congenital disorder of glycosylation with hepatic involvement",["CDG with hepatic involvement"]],[371176,"Congenital disorder of glycosylation with dilated cardiomyopathy",["CDG with dilated cardiomyopathy"]],[371183,"Congenital disorder of glycosylation with cardiac malformation as a major feature",["CDG with cardiac malformation as a major feature"]],[371188,"Congenital disorder of glycosylation with intestinal involvement",["CDG with intestinal involvement"]],[371195,"Congenital disorder of glycosylation-related bone disorder",["CDG-related bone disorder"]],[371200,"Congenital disorder of glycosylation with skin involvement",["CDG with skin involvement"]],[371207,"Congenital disorder of glycosylation with nephropathy as a major feature",["CDG with nephropathy as a major feature"]],[371212,"Congenital disorder of glycosylation with deafness as a major feature",["CDG with deafness as a major feature","CDG with hearing loss as a major feature","Congenital disorder of glycosylation with hearing loss as a major feature"]],[371235,"Congenital disorder of glycosylation with developmental anomaly",["CDG with developmental anomaly"]],[371364,"Hypotonia-speech impairment-severe cognitive delay syndrome",["Infantile hypotonia-psychomotor retardation-characteristic facies syndrome","IHPRF syndrome"]],[371428,"Multicentric osteolysis-nodulosis-arthropathy spectrum",["MONA spectrum"]],[371433,"Genetic periodic paralysis"],[371436,"Genetic neurovascular malformation"],[371439,"OBSOLETE: Genetic cerebrovascular dementia"],[371442,"Sphingolipidosis with epilepsy"],[371445,"Genetic syndromic esophageal malformation"],[371861,"Genetic hyperaldosteronism"],[376724,"Generalized isolated dystonia"],[391307,"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"],[391311,"Susceptibility to viral and mycobacterial infections due to STAT1 deficiency",["Predisposition to severe viral infection due to STAT1 deficiency","STAT1 deficiency"]],[391316,"TNK2-related epilepsy with severe cognitive regression",["Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"]],[391320,"East Texas bleeding disorder",["FV East Texas bleeding disorder","Factor V East Texas bleeding disorder"]],[391327,"X-linked calvarial hyperostosis"],[391330,"X-linked osteoporosis with fractures"],[391343,"Fatal post-viral neurodegenerative disorder"],[391348,"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"],[391351,"SURF1-related Charcot-Marie-Tooth disease type 4",["CMT4K","Charcot-Marie-Tooth disease type 4K","SURF1-related CMT4","SURF1-related severe demyelinating Charcot-Marie-Tooth disease"]],[391366,"Growth retardation-mild developmental delay-chronic hepatitis syndrome"],[391372,"FOXP1 Syndrome",["FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome"]],[391376,"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome",["Asparagine synthetase deficiency"]],[391381,"Disorder of asparagine metabolism"],[391384,"Familial episodic pain syndrome",["FEPS"]],[391389,"Familial episodic pain syndrome with predominantly upper body involvement"],[391392,"Familial episodic pain syndrome with predominantly lower limb involvement"],[391397,"Hereditary sensory and autonomic neuropathy type 7",["CIP with hyperhidrosis and gastrointestinal dysfunction","Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction","HSAN with hyperhidrosis and gastrointestinal dysfunction","HSAN7","Hereditary sensory and autonomic neuropathy type VII","Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction"]],[391408,"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"],[391411,"Atypical juvenile parkinsonism"],[391417,"HSD10 disease",["2-methyl-3-hydroxybutyric aciduria","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency","HSD10 deficiency","MHBD deficiency"]],[391428,"HSD10 disease, infantile type",["2-methyl-3-hydroxybutyric aciduria, classic type","2-methyl-3-hydroxybutyric aciduria, infantile type","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type","HSD10 deficiency, classic type","HSD10 deficiency, infantile type","HSD10 disease, classic type","MHBD deficiency, classic type","MHBD deficiency, infantile type"]],[391457,"HSD10 disease, neonatal type",["2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type","HSD10 deficiency, neonatal type","MHBD deficiency, neonatal type","2-methyl-3-hydroxybutyric aciduria, neonatal type"]],[391474,"Frontorhiny",["ALX3-related frontonasal dysplasia","Frontonasal dysplasia type 1","Isolated median cleft face syndrome"]],[391479,"OBSOLETE: Syndromic frontonasal dysplasia",["OBSOLETE: Syndromic median cleft syndrome"]],[391487,"STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"],[391490,"Adult-onset myasthenia gravis",["Adult-onset acquired myasthenia","Adult-onset autoimmune myasthenia gravis"]],[391497,"Juvenile myasthenia gravis",["Childhood myasthenia gravis","Juvenile acquired myasthenia","Juvenile autoimmune myasthenia gravis"]],[391504,"Transient neonatal myasthenia gravis",["NMG","Neonatal myasthenia gravis","Transient neonatal acquired myasthenia","Transient neonatal autoimmune myasthenia gravis"]],[391641,"Feingold syndrome type 1",["Brunner-Winter syndrome type 1","Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1","FGLDS1","FS1","MMT type 1","MODED syndrome type 1","Microcephaly-digital anomalies-normal intelligence syndrome type 1","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1","Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1","ODED syndrome type 1","Oculo-digito-esophageal-duodenal syndrome type 1"]],[391646,"Feingold syndrome type 2",["Brachydactyly-short stature-microcephaly syndrome","Brunner-Winter syndrome type 2","FGLDS2","FS2","MMT type 2","Microcephaly-digital anomalies-normal intelligence syndrome type 2","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2"]],[391651,"Glomus tumor"],[391655,"Off-periods in Parkinson disease not responding to oral treatment"],[391658,"OBSOLETE: Cowpox infection"],[391665,"Homozygous familial hypercholesterolemia",["HoFH"]],[391673,"Necrotizing enterocolitis"],[391677,"Short stature-optic atrophy-Pelger-Huët anomaly syndrome",["SOPH syndrome"]],[391711,"Persistent combined dystonia"],[391723,"Mucinous adenocarcinoma of the appendix",["Appendiceal mucinous adenocarcinoma"]],[391799,"Rare genetic dystonia",["Rare genetic dystonic disorder"]],[394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",["Glutaric aciduria type 2, severe neonatal type","MAD deficiency, severe neonatal type","MADD, severe neonatal type"]],[394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",["Glutaric aciduria type 2, mild type","MAD deficiency, mild type","MADD, mild type"]],[397587,"Deep dermatophytosis",["Disseminated granulomatous dermatophytosis"]],[397590,"Silver-Russell syndrome due to a point mutation"],[397593,"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"],[397596,"Activated PI3K-delta syndrome",["APDS","Activated p110-delta syndrome","PASLI","PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"]],[397606,"PrP systemic amyloidosis",["Chronic diarrhea with HSAN","Chronic diarrhea with hereditary sensory and autonomic neuropathy","Prion protein systemic amyloidosis"]],[397612,"Macrocephaly-developmental delay syndrome"],[397615,"Obesity due to CEP19 deficiency"],[397618,"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome",["FHONDA syndrome"]],[397623,"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome",["SAMS syndrome"]],[397685,"Familial hyperprolactinemia",["Familial isolated prolactin receptor deficiency"]],[397692,"OBSOLETE: Hereditary isolated aplastic anemia"],[397695,"3q27.3 microdeletion syndrome",["Del(3)(q27.3)"]],[397709,"Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome",["SNX14-related autosomal recessive spinocerebellar ataxia","Autosomal recessive spinocerebellar ataxia type 20","Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome","SCAR20"]],[397715,"Joubert syndrome with Jeune asphyxiating thoracic dystrophy",["JBTS with JATD","Joubert syndrome with JATD"]],[397725,"COASY protein-associated neurodegeneration",["CoPAN","NBIA6","Neurodegeneration with brain iron accumulation due to COASY mutation"]],[397735,"Autosomal dominant Charcot-Marie-Tooth disease type 2U",["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation","CMT2U"]],[397744,"MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",["Peripheral neuropathy-myopathy-hoarseness-deafness syndrome"]],[397750,"Periodic paralysis with later-onset distal motor neuropathy"],[397755,"Periodic paralysis with transient compartment-like syndrome"],[397758,"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies",["Retinal dystrophy with inner nuclear layer and ganglion cell anomalies"]],[397787,"Combined immunodeficiency due to IKBKB deficiency",["CID due to IKBKB deficiency","Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency"]],[397802,"OBSOLETE: T+ B+ severe combined immunodeficiency"],[397922,"Ferro-cerebro-cutaneous syndrome",["Cerebro-cutaneous syndrome with iron overload"]],[397927,"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"],[397933,"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome",["IQSEC2-related syndromic intellectual disability"]],[397937,"Polyglucosan body myopathy type 1",["PGBM1"]],[397941,"MAN1B1-CDG",["Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency","Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency","Congenital disorder of glycosylation type II due to MAN1B1 deficiency","Intellectual disability-truncal obesity syndrome"]],[397946,"Autosomal spastic paraplegia type 58",["Autosomal spastic ataxia type 2","SPAX2","SPG58"]],[397951,"Microcephaly-thin corpus callosum-intellectual disability syndrome"],[397959,"TCR-alpha-beta-positive T-cell deficiency",["TCR-alpha-beta+ T-cell deficiency"]],[397964,"Combined immunodeficiency due to MALT1 deficiency"],[397968,"Charcot-Marie-Tooth disease type 2R",["CMT2R"]],[397973,"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome",["MOMES syndrome"]],[398043,"Malignant tumor of penis",["Cancer of penis","Malignant penile tumor","Penile cancer"]],[398053,"Adenocarcinoma of the penis",["Penile adenocarcinoma"]],[398058,"Squamous cell carcinoma of the penis",["Penile squamous cell carcinoma"]],[398063,"Refractory celiac disease",["Refractory CD","Refractory sprue"]],[398069,"Schaaf-Yang syndrome",["SYS"]],[398073,"Prader-Willi-like syndrome",["PWS-like"]],[398079,"SIM1-related Prader-Willi-like syndrome",["SIM1-related PWLS"]],[398088,"Hereditary cryohydrocytosis with normal stomatin"],[398091,"Secondary neonatal autoimmune disease",["Transplacentally acquired neonatal autoimmune disease"]],[398097,"Neonatal antiphospholipid syndrome",["Neonatal Hughes syndrome","Neonatal antiphospholipid antibody syndrome"]],[398109,"Neonatal autoimmune hemolytic anemia",["Neonatal AHA","Neonatal AIHA"]],[398117,"Neonatal dermatomyositis",["Neonatal DM"]],[398124,"Neonatal lupus erythematosus"],[398127,"Neonatal scleroderma"],[398147,"Persistent idiopathic facial pain",["AFP","Atypical facial pain","PIFP"]],[398156,"Oculoauriculofrontonasal syndrome",["OAFNS"]],[398166,"Focal facial dermal dysplasia",["FFDD"]],[398173,"Focal facial dermal dysplasia type II",["FFDD type II","FFDD2","Focal facial dermal dysplasia 2, Brauer-Setleis type"]],[398189,"Focal facial dermal dysplasia type IV",["FFDD type IV","FFDD4","Focal facial dermal dysplasia 4","Focal facial preauricular dysplasia"]],[398934,"Malignant epithelial tumor of ovary",["Ovarian epithelial cancer","Ovarian malignant epithelial tumor","Epithelial cancer of ovary"]],[398940,"Malignant non-epithelial tumor of ovary",["Non-epithelial cancer of ovary","Ovarian malignant non-epithelial tumor","Ovarian non-epithelial cancer"]],[398961,"Mucinous adenocarcinoma of ovary",["Ovarian mucinous adenocarcinoma"]],[398971,"Clear cell adenocarcinoma of the ovary",["Ovarian clear cell adenocarcinoma"]],[398980,"OBSOLETE: Primary peritoneal serous/papillary carcinoma",["OBSOLETE: PPSPC"]],[398987,"Malignant teratoma of ovary",["Immature teratoma of ovary","Ovarian immature teratoma","Ovarian malignant teratoma"]],[399058,"Alpha-B crystallin-related late-onset myopathy",["Alpha-B crystallin-related late-onset distal myopathy","Late-onset distal crystallinopathy"]],[399081,"KLHL9-related early-onset distal myopathy"],[399086,"HNRNPA1-related adult-onset distal myopathy",["Distal myopathy type 3","Finnish upper limb-onset distal myopathy","MPD3"]],[399096,"Distal anoctaminopathy",["MMD3","Miyoshi muscular dystrophy type 3"]],[399103,"Autosomal recessive distal nebulin myopathy",["Nebulin-related early-onset distal myopathy"]],[399158,"Osteonecrosis",["Bone necrosis"]],[399164,"Avascular necrosis",["AVN"]],[399169,"Secondary avascular necrosis",["Secondary AVN"]],[399175,"Traumatic avascular necrosis",["Traumatic AVN"]],[399180,"Secondary non-traumatic avascular necrosis",["Secondary non-traumatic AVN","Secondary non-traumatic osteonecrosis"]],[399185,"Rare hereditary disease with avascular necrosis"],[399293,"Osteonecrosis of the jaw"],[399302,"Primary avascular necrosis",["Primary AVN"]],[399307,"Idiopathic avascular necrosis",["Idiopathic AVN"]],[399319,"Osteochondrosis"],[399329,"Epiphysiolysis of the hip",["Slipped upper femoral epiphysis","Epiphysiolysis of the upper femur","Femoral head epiphysiolysis","SCFE","SUFE","Slipped capital femoral epiphysis"]],[399380,"Osteonecrosis of genetic origin",["Bone necrosis of genetic origin"]],[399388,"Avascular necrosis of genetic origin"],[399391,"Osteochondrosis of genetic origin"],[399572,"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder",["Rare male infertility due to gonadotropic axis disorder","Rare male infertility due to hypothalamic-pituitary-testicular axis disorder"]],[399584,"Rare male infertility due to adrenal disorder"],[399685,"Rare male infertility due to testicular endocrine disorder"],[399764,"Male infertility due to gonadal dysgenesis or sperm disorder",["Male infertility due to testicular dysgenesis or sperm disorder"]],[399771,"Male infertility due to sperm disorder"],[399775,"Male infertility with spermatogenesis disorder"],[399786,"Male infertility with spermatogenesis disorder due to single gene mutation"],[399805,"Male infertility with azoospermia or oligozoospermia due to single gene mutation"],[399808,"Male infertility with teratozoospermia due to single gene mutation"],[399813,"Male infertility due to sperm motility disorder",["Male infertility due to asthenozoospermia"]],[399824,"Rare disorder with obstructive azoospermia",["Rare disorder due to impaired sperm transport"]],[399831,"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder",["Rare female infertility due to gonadotropic axis disorder","Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder"]],[399839,"Rare female infertility due to a congenital hypogonadotropic hypogonadism"],[399846,"Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism"],[399849,"Rare female infertility due to an adrenal disorder"],[399853,"Rare female infertility due to an anomaly of ovarian function"],[399877,"Rare female infertility due to gonadal dysgenesis",["Rare female infertility due to ovarian dysgenesis"]],[399882,"Rare female infertility due to an implantation defect"],[399980,"Rare genetic male infertility"],[399983,"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin",["Rare male infertility due to gonadotropic axis disorder of genetic origin","Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin"]],[399994,"Rare male infertility due to adrenal disorder of genetic origin"],[399998,"Male infertility due to obstructive azoospermia of genetic origin",["Male infertility due to impaired sperm transport of genetic origin"]],[400003,"Rare genetic disorder with obstructive azoospermia",["Rare genetic disorder due to impaired sperm transport"]],[400008,"Rare genetic female infertility"],[400011,"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin",["Rare female infertility due to gonadotropic axis disorder of genetic origin","Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin"]],[400018,"Rare female infertility due to adrenal disorder of genetic origin"],[400022,"Rare female infertility due to an anomaly of ovarian function of genetic origin"],[400025,"Female infertility due to an implantation defect of genetic origin"],[401764,"Pancytopenia-developmental delay syndrome",["Trilineage bone marrow failure-developmental delay syndrome"]],[401768,"Proximal myopathy with extrapyramidal signs"],[401777,"Optic atrophy-intellectual disability syndrome",["BBSOAS","Bosch-Boonstra-Schaaf optic atrophy syndrome"]],[401780,"Autosomal recessive spastic paraplegia type 61",["SPG61"]],[401785,"Autosomal recessive spastic paraplegia type 62",["SPG62"]],[401795,"Autosomal recessive spastic paraplegia type 59",["SPG59"]],[401800,"Autosomal recessive spastic paraplegia type 60",["SPG60"]],[401805,"Autosomal recessive spastic paraplegia type 63",["SPG63"]],[401810,"Autosomal recessive spastic paraplegia type 64",["SPG64"]],[401815,"Autosomal recessive spastic paraplegia type 66",["SPG66"]],[401820,"Autosomal recessive spastic paraplegia type 67",["SPG67"]],[401825,"Autosomal recessive spastic paraplegia type 68",["SPG68"]],[401830,"Autosomal recessive spastic paraplegia type 69",["SPG69"]],[401835,"Autosomal recessive spastic paraplegia type 70",["SPG70"]],[401840,"Autosomal recessive spastic paraplegia type 71",["SPG71"]],[401849,"Autosomal spastic paraplegia type 72",["SPG72"]],[401854,"Lipoic acid biosynthesis defect",["Lipoate biosynthesis defect"]],[401859,"Lipoic acid synthetase deficiency"],[401862,"Lipoyl transferase 1 deficiency"],[401866,"Childhood-onset spasticity with hyperglycinemia",["Childhood-onset spasticity with variant non-ketotic hyperglycinemia","Spasticity-ataxia-gait anomalies syndrome"]],[401869,"Multiple mitochondrial dysfunctions syndrome type 1",["MMDS1","NFU1 deficiency"]],[401874,"Multiple mitochondrial dysfunctions syndrome type 2",["BOLA3 deficiency","MMDS2"]],[401901,"Huntington disease-like syndrome due to C9ORF72 expansions",["C9ORF72-related Huntington disease phenocopy","C9ORF72-related Huntington disease-like syndrome","Huntington disease phenocopy due to C9ORF72 expansions"]],[401911,"AXIN2-related polyposis",["AXIN2-related adenomatous polyposis"]],[401920,"Fibrolamellar hepatocellular carcinoma",["FHCC","Fibrolamellar hepatocarcinoma"]],[401923,"9q31.1q31.3 microdeletion syndrome",["Del(9)(q31.1q31.3)","Monosomy 9q31.1q31.3"]],[401935,"14q24.1q24.3 microdeletion syndrome",["Del(14)(q24.1q24.3)","Monosomy 14q24.1q24.3"]],[401942,"Familial median cleft of the upper and lower lips"],[401945,"Moyamoya disease with early-onset achalasia"],[401948,"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency",["CA-VA deficiency"]],[401953,"Episodic ataxia with slurred speech",["Episodic ataxia type 8"]],[401959,"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome",["KPNA7-related neurodevelopmental disorder"]],[401964,"Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons",["Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons","CMT2 with giant axons","HMSN2 with giant axons"]],[401973,"MEND syndrome",["Male EBP disorder with neurological defects"]],[401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type"],[401986,"1p31p32 microdeletion syndrome",["Del(1)(p31p32)","Monosomy 1p31p32"]],[401993,"Cold-induced sweating syndrome-hyperthermia spectrum"],[401996,"Karyomegalic interstitial nephritis",["KIN","Systemic karyomegaly"]],[402003,"Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"],[402007,"Lichen myxedematosus"],[402014,"Acute myeloid leukemia with t(6;9)(p23;q34)",["AML with t(6;9)(p23;q34)"]],[402017,"Acute myeloid leukemia with t(9;11)(p22;q23)",["AML with t(9;11)(p22;q23)"]],[402020,"Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)",["AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"]],[402023,"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)",["Megakaryoblastic AML with t(1;22)(p13;q13)"]],[402026,"Acute myeloid leukemia with NPM1 somatic mutations",["AML with NPM1 somatic mutations"]],[402029,"Primary eosinophilic gastrointestinal disease",["EGID"]],[402035,"Eosinophilic colitis"],[402041,"Autosomal recessive distal renal tubular acidosis",["AR dRTA","Autosomal recessive distal RTA"]],[402075,"Familial bicuspid aortic valve",["Familial BAV"]],[402082,"Progressive myoclonic epilepsy type 5",["EPM5","PME type 5","Progressive myoclonus epilepsy type 5"]],[402364,"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"],[402823,"Hepatitis delta",["HDV","Hepatitis D virus"]],[404437,"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"],[404440,"OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"],[404443,"Tatton-Brown-Rahman syndrome",["DNMT3A-related overgrowth syndrome","Tatton-Brown-Rahman overgrowth syndrome"]],[404448,"Helsmoortel-Van der Aa syndrome",["ADNP syndrome","ADNP-related Helsmoortel-Van der Aa syndrome","ADNP-related syndromic intellectual disability-autism spectrum disorder","HVDAS"]],[404451,"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"],[404454,"Alacrimia-choreoathetosis-liver dysfunction syndrome",["NGLY1 deficiency","NGLY1-CDDG"]],[404463,"Multisystemic smooth muscle dysfunction syndrome"],[404466,"Female infertility due to zona pellucida defect"],[404469,"Rare female infertility due to oocyte maturation defect"],[404473,"Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome",["CTNNB1 syndrome","CTNNB1-NDD","CTNNB1-related neurodevelopmental disorder"]],[404476,"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome",["GLOW syndrome"]],[404481,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome"],[404493,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency",["SCAR23","Spinocerebellar ataxia autosomal recessive type 23"]],[404499,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency",["Autosomal recessive spinocerebellar ataxia type 15","SCAR15","Salih ataxia"]],[404507,"Chondromyxoid fibroma"],[404511,"Clear cell papillary renal cell carcinoma"],[404514,"Acquired cystic disease-associated renal cell carcinoma"],[404521,"Spinal muscular atrophy with respiratory distress type 2",["Diaphragmatic spinal muscular atrophy type 2","SMARD2","Severe infantile axonal neuropathy with respiratory failure type 2","X-linked spinal muscular atrophy with respiratory distress"]],[404538,"X-linked distal hereditary motor neuropathy",["X-linked dHMN","X-linked distal spinal muscular atrophy"]],[404546,"DITRA",["Deficiency of IL-36R antagonist","Deficiency of IL-36Ra"]],[404553,"Deficiency of adenosine deaminase 2",["Adenosine deaminase 2 deficiency","DADA2","Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome","ADA2 deficiency"]],[404560,"Familial atypical multiple mole melanoma syndrome",["B-K mole syndrome","FAMM-PC syndrome","FAMMM syndrome","Familial atypical mole syndrome","Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome","Familial dysplastic nevus syndrome","Melanoma-pancreatic cancer syndrome"]],[404568,"Dysostosis of genetic origin"],[404571,"Dysostosis of genetic origin with limb anomaly as a major feature"],[404574,"Genetic syndrome with limb reduction defects"],[404577,"Genetic syndrome with limb malformations as a major feature"],[404580,"Polyarticular juvenile idiopathic arthritis",["Juvenile polyarthritis","Juvenile polyarticular arthritis","Polyarticular JIA"]],[404584,"Rare genetic bone development disorder",["Rare genetic skeletal development disorder"]],[411493,"Pontocerebellar hypoplasia type 10",["CLP1-related pontocerebellar hypoplasia","PCH10"]],[411501,"Williams-Campbell syndrome"],[411511,"Angelman syndrome due to a point mutation"],[411515,"Angelman syndrome due to imprinting defect in 15q11-q13"],[411527,"NON RARE IN EUROPE: Central retinal vein occlusion",["NON RARE IN EUROPE: CRVO"]],[411533,"NON RARE IN EUROPE: Melanoma"],[411536,"Mild phosphoribosylpyrophosphate synthetase superactivity",["Mild PRPP synthetase superactivity","Mild PRPS1 superactivity"]],[411543,"Severe phosphoribosylpyrophosphate synthetase superactivity",["Severe PRPP synthetase superactivity","Severe PRPS1 superactivity"]],[411590,"Wolfram-like syndrome"],[411593,"Insulin autoimmune syndrome",["Hirata disease"]],[411602,"Hereditary late-onset Parkinson disease",["Autosomal dominant late-onset Parkinson disease","LOPD"]],[411629,"Infantile nephropathic cystinosis"],[411634,"Juvenile nephropathic cystinosis",["Intermediate cystinosis","Juvenile cystinosis"]],[411641,"Ocular cystinosis",["Adult-onset cystinosis","Non-nephropathic cystinosis"]],[411696,"OBSOLETE: Proton-pump inhibitor-responsive esophageal eosinophilia"],[411703,"Pulmonary non-tuberculous mycobacterial infection",["Non-tuberculous mycobacterial lung disease"]],[411709,"Renal agenesis"],[411712,"Maternal riboflavin deficiency"],[411777,"Generalized eruptive keratoacanthoma",["GEKA","Generalized eruptive keratoacanthomas of Grzybowski","Grzybowski syndrome"]],[411788,"Familial isolated trichomegaly"],[411969,"NON RARE IN EUROPE: Metabolic syndrome"],[411986,"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome",["Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome"]],[412022,"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome",["FDLAB syndrome","Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome","Traboulsi syndrome"]],[412035,"13q12.3 microdeletion syndrome",["Del(13)(q12.3)","Monosomy 13q12.3"]],[412057,"Autosomal recessive cerebellar ataxia due to STUB1 deficiency",["SCAR16","Spinocerebellar ataxia autosomal recessive type 16"]],[412066,"PRKAR1B-related neurodegenerative dementia with intermediate filaments"],[412069,"AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome",["Xia-Gibbs syndrome"]],[412181,"Epidermolysis bullosa simplex due to BP230 deficiency",["DST-related epidermolysis bullosa simplex","EBS due to BP230 deficiency"]],[412189,"Epidermolysis bullosa simplex due to exophilin 5 deficiency",["EBS due to exophilin 5 deficiency"]],[412206,"Primary failure of tooth eruption",["PFE","Primary retention of teeth"]],[412217,"Dystonia-aphonia syndrome"],[412220,"OBSOLETE: Ramsay Hunt syndrome type II"],[414726,"Genetic facial cleft",["Genetic craniofacial cleft"]],[415268,"NON RARE IN EUROPE: Adenocarcinoma of the lung"],[415286,"Bilirubin encephalopathy",["Kernicterus"]],[415300,"NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy",["NON RARE IN EUROPE: NAION"]],[415675,"OBSOLETE: Small pox",["OBSOLETE: Variola"]],[415687,"NON RARE IN EUROPE: Sudden infant death syndrome",["NON RARE IN EUROPE: SIDS"]],[418945,"Carcinoma of esophagus, salivary gland type",["Esophageal carcinoma, salivary gland type"]],[418951,"Undifferentiated carcinoma of esophagus",["Undifferentiated esophageal carcinoma"]],[418959,"Squamous cell carcinoma of the stomach",["Gastric squamous cell carcinoma"]],[420179,"Malan overgrowth syndrome",["Sotos syndrome 2"]],[420259,"Secondary pulmonary alveolar proteinosis",["Secondary PAP"]],[420402,"Semicircular canal dehiscence syndrome",["SCD syndrome"]],[420429,"Glycogen storage disease due to acid maltase deficiency, late-onset",["Alpha-1,4-glucosidase acid deficiency, late-onset","GSD due to acid maltase deficiency, late-onset","GSD type 2, late-onset","GSD type II, late-onset","Glycogen storage disease type 2, late-onset","Glycogen storage disease type II, late-onset","Glycogenosis type 2, late-onset","Glycogenosis type II, late-onset","Pompe disease, late-onset"]],[420485,"Cranio-cervical dystonia with laryngeal and upper-limb involvement",["DYT24","Dystonia 24"]],[420492,"Adult-onset cervical dystonia, DYT23 type",["DYT23","Dystonia 23"]],[420556,"Visual snow syndrome"],[420561,"Temple-Baraitser syndrome",["Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome","TMBTS"]],[420566,"Bleeding disorder due to CalDAG-GEFI deficiency",["Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency"]],[420573,"EBV-induced lymphoproliferative disease due to CTPS1 deficiency",["EBV-induced lymphoproliferative disease due to CTP synthase 1 deficiency"]],[420584,"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome",["Culler-Jones syndrome"]],[420611,"Transient myeloproliferative syndrome",["Transient myeloproliferative disease","TMD","Transient abnormal myelopoiesis"]],[420686,"Woolly hair-palmoplantar keratoderma syndrome",["KWWH type IV","Keratoderma with woolly hair type IV","Woolly hair-palmoplantar hyperkeratosis syndrome"]],[420699,"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"],[420702,"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"],[420728,"Combined oxidative phosphorylation defect type 20",["COXPD20"]],[420733,"Combined oxidative phosphorylation defect type 21",["COXPD21"]],[420741,"RIDDLE syndrome",["RNF168 deficiency","Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"]],[420755,"Rare genetic odontal or periodontal disorder"],[420789,"Autoimmune encephalopathy with parasomnia and obstructive sleep apnea",["Anti-IgLON5 disease","Anti-IgLON5 syndrome"]],[420794,"Cono-spondylar dysplasia",["Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome"]],[422519,"OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency",["OBSOLETE: PHGDH deficiency"]],[422526,"Hereditary clear cell renal cell carcinoma",["Hereditary clear cell renal cell adenocarcinoma"]],[423275,"Spinocerebellar ataxia type 40",["SCA40"]],[423296,"Spinocerebellar ataxia type 38",["SCA38"]],[423306,"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"],[423384,"Severe congenital neutropenia due to JAGN1 deficiency",["SCN due to JAGN1 deficiency","Severe congenital neutropenia due to jagunal homolog 1 deficiency"]],[423454,"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome",["Ectodermal dysplasia-short stature syndrome","Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"]],[423461,"Mucolipidosis type III alpha/beta",["ML 3 alpha/beta","ML III alpha/beta","Mucolipidosis type 3 alpha/beta"]],[423470,"Mucolipidosis type III gamma",["ML 3 gamma","ML III gamma","Mucolipidosis type 3 gamma"]],[423479,"X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency",["X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome"]],[423655,"ARX-related encephalopathy-brain malformation spectrum"],[423662,"Rare autonomic nervous system disorder"],[423668,"NON RARE IN EUROPE: Cortisol-producing adrenal tumor"],[423693,"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect",["DORV with subaortic or doubly committed VSD"]],[423712,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",["DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy"]],[423717,"Cutaneous larva migrans"],[423771,"Rare carcinoma of stomach",["Rare gastric carcinoma"]],[423776,"Hereditary gastric cancer",["Hereditary cancer of stomach"]],[423781,"OBSOLETE: Carcinoma of stomach, salivary gland type",["OBSOLETE: Gastric carcinoma, salivary gland type"]],[423786,"Undifferentiated carcinoma of stomach",["Undifferentiated gastric carcinoma"]],[423793,"Rare tumor of small intestine",["Rare tumor of small bowel"]],[423798,"Mesenchymal tumor of small intestine",["Mesenchymal tumor of small bowel"]],[423894,"Microcephaly-complex motor and sensory axonal neuropathy syndrome"],[423957,"Rare carcinoma of small intestine",["Rare carcinoma of small bowel"]],[423968,"Squamous cell carcinoma of the small intestine",["Squamous cell carcinoma of the small bowel"]],[423975,"Neuroendocrine tumor of the small intestine",["NET of the small intestine","Neuroendocrine neoplasm of the small intestine","Neuroendocrine tumor of small bowel"]],[423982,"Epithelial tumor of the appendix",["Appendiceal epithelial tumor"]],[423991,"Rare epithelial tumor of colon"],[423994,"Squamous cell carcinoma of the colon"],[423998,"Rare epithelial tumor of rectum",["Rare rectal epithelial tumor"]],[424002,"Squamous cell carcinoma of the rectum",["Rectal squamous cell carcinoma"]],[424010,"Epithelial tumor of anal canal"],[424013,"Carcinoma of the anal canal"],[424016,"Adenocarcinoma of the anal canal"],[424019,"Squamous cell carcinoma of the anal canal"],[424027,"Progressive myoclonic epilepsy type 8",["EPM8","PME type 8","Progressive myoclonic epilepsy due to CERS1 deficiency","Progressive myoclonus epilepsy type 8"]],[424033,"Rare epithelial tumor of pancreas",["Rare pancreatic epithelial tumor"]],[424039,"Squamous cell carcinoma of pancreas",["Pancreatic squamous cell carcinoma"]],[424046,"Acinar cell carcinoma of pancreas",["Pancreatic acinar cell carcinoma"]],[424053,"Mucinous cystadenocarcinoma of the pancreas",["Pancreatic mucinous cystadenocarcinoma"]],[424058,"Intraductal papillary mucinous carcinoma of pancreas",["IPMN","Pancreatic intraductal papillary mucinous carcinoma"]],[424065,"Pancreatic solid pseudopapillary neoplasm",["Frantz tumor","SPN","Solid pseudopapillary carcinoma of pancreas","Solid pseudopapillary neoplasm of the pancreas"]],[424073,"Serous cystadenocarcinoma of pancreas",["Pancreatic serous cystadenocarcinoma"]],[424080,"Undifferentiated carcinoma with osteoclast-like giant cells of pancreas",["OGCT of pancreas","Osteoclastic giant cell tumor of pancreas","Pancreatic osteoclastic giant cell tumor","Pancreatic undifferentiated carcinoma with osteoclast-like giant cells","Undifferentiated carcinoma of pancreas with osteoclast-like giant cells"]],[424099,"Colobomatous microphthalmia-rhizomelic dysplasia syndrome",["Microphthalmia-coloboma-rhizomelic skeletal dysplasia"]],[424107,"Congenital myopathy with myasthenic-like onset"],[424261,"TOR1AIP1-related limb-girdle muscular dystrophy",["Autosomal recessive limb-girdle muscular dystrophy type 2Y","Autosomal recessive muscular dystrophy due to LAP1B deficiency","Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency","LGMD type 2Y","LGMD2Y","Muscular dystrophy with progressive weakness, distal contractures and rigid spine","TOR1AIP1-related LGMD"]],[424925,"Qualitative or quantitative defects of Torsin-1A-interacting protein 1"],[424933,"Rare malignant epithelial tumor of liver and intrahepatic biliary tract",["Rare malignant epithelial tumor of liver and IBT"]],[424936,"Carcinoma of liver and intrahepatic biliary tract",["Carcinoma of liver and IBT"]],[424943,"Adenocarcinoma of the liver and intrahepatic biliary tract",["Adenocarcinoma of the liver and IBT"]],[424970,"Undifferentiated carcinoma of liver and intrahepatic biliary tract",["Undifferentiated carcinoma of liver and IBT"]],[424975,"Squamous cell carcinoma of liver and intrahepatic biliary tract",["Squamous cell carcinoma of liver and IBT"]],[424982,"Biliary cystadenocarcinoma",["Intrahepatic bile duct cystadenocarcinoma"]],[424991,"Adenocarcinoma of the gallbladder and extrahepatic biliary tract",["Adenocarcinoma of the gallbladder and EBT"]],[424996,"Squamous cell carcinoma of gallbladder and extrahepatic biliary tract",["Squamous cell carcinoma of gallblader and EBT"]],[425003,"Inherited digestive cancer-predisposing syndrome"],[425120,"STING-associated vasculopathy with onset in infancy",["SAVI"]],[425368,"Rare epithelial tumor of small intestine",["Rare epithelial tumor of small bowel"]],[431140,"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome",["X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome"]],[431149,"Combined immunodeficiency due to OX40 deficiency",["Combined immunodeficiency with childhood-onset Kaposi sarcoma","Combined immunodeficiency with impaired immunity to HHV-8","Combined immunodeficiency with impaired immunity to human herpes virus 8"]],[431156,"Primary immunodeficiency with predisposition to severe viral infection"],[431166,"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",["Primary immunodeficiency with post-MMR vaccine viral infection"]],[431255,"Scapuloperoneal spinal muscular atrophy",["Neurogenic scapuloperoneal amyotrophy, New England type","SPSMA","Scapuloperoneal neuronopathy"]],[431263,"Late-onset scapuloperoneal muscular dystrophy with hyaline bodies",["Late-onset SPMD with hyaline bodies","Late-onset scapuloperoneal syndrome, myopathic type"]],[431272,"X-linked scapuloperoneal muscular dystrophy",["X-linked SPMD","X-linked scapuloperoneal syndrome"]],[431320,"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder",["SPOAN and SPOAN-related disorder"]],[431329,"Autosomal recessive spastic paraplegia type 57",["SPG57","Spastic paraplegia due to partial TFG deficiency"]],[431341,"Patent urachus"],[431344,"Urachal sinus"],[431347,"Urachal diverticulum",["Vesicourachal diverticulum"]],[431353,"Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis",["Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"]],[431361,"Progressive encephalopathy with leukodystrophy due to DECR deficiency",["2,4-dienoyl-CoA reductase deficiency","DECR deficiency with hyperlysinemia"]],[434179,"Orofaciodigital syndrome type 14",["Microcephaly-cerebral malformation-orofaciodigital syndrome","OFD14","Oral-facial-digital syndrome type 14"]],[434786,"Rare genetic autonomic nervous system disorder"],[434809,"Syndrome with woolly hair"],[435329,"Familial ossifying fibroma",["Familial Gigantiform cementoma","Multiple ossifying fibroma"]],[435365,"Fetal lower urinary tract obstruction",["LUTO"]],[435372,"Anterior urethral valve"],[435387,"Autosomal dominant Charcot-Marie-Tooth disease type 2Y",["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation","CMT2 due to VCP mutation","CMT2Y"]],[435438,"Progressive myoclonic epilepsy type 7",["EPM7","MEAK","Myoclonus epilepsy and ataxia due to potassium channel mutation","PME type 7","Progressive myoclonic epilepsy due to KV3.1 deficiency","Progressive myoclonus epilepsy type 7"]],[435554,"Genetic precocious puberty"],[435561,"Rare precocious puberty in female"],[435564,"Genetic precocious puberty in female"],[435603,"Genetic otorhinolaryngological malformation"],[435606,"Genetic nose and cavum anomaly"],[435609,"Genetic larynx anomaly"],[435612,"Genetic tracheal anomaly"],[435623,"OBSOLETE: Adactyly of foot",["OBSOLETE: Congenital absence of toes"]],[435628,"Keppen-Lubinsky syndrome",["Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome"]],[435638,"Proximal 3p25.3 microdeletion syndrome",["Intellectual disability-epilepsy-stereotypic hand movement syndrome","Proximal del(3)p(25.3) syndrome","Proximal monosomy 3p25.3 syndrome"]],[435651,"CIDEC-related familial partial lipodystrophy",["CIDEC-related FPLD","FPLD5"]],[435660,"LIPE-related familial partial lipodystrophy",["FPLD6","LIPE-related FPLD"]],[435743,"Congenital urachal anomaly"],[435804,"Short stature-advanced bone age-early-onset osteoarthritis syndrome"],[435808,"OBSOLETE: ACAN-related skeletal dysplasia"],[435819,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation",["CMT2 due to TFG mutation"]],[435845,"Lethal neonatal spasticity-epileptic encephalopathy syndrome",["Lethal neonatal rigidity-multifocal seizure syndrome"]],[435930,"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"],[435934,"COG2-CDG",["COG2-related congenital disorder of glycosylation"]],[435938,"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"],[435953,"Progeroid features-hepatocellular carcinoma predisposition syndrome",["Ruijs-Aalfs syndrome"]],[435988,"Chronic atrial and intestinal dysrhythmia syndrome",["CAID syndrome","Chronic atrial dysrhythmia-intestinal motility disorder"]],[435998,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D",["RI-CMT type D"]],[436003,"Contractures-developmental delay-Pierre Robin syndrome",["5q23 microdeletion syndrome"]],[436141,"HIDEA syndrome",["Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"]],[436144,"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"],[436151,"Intellectual disability-expressive aphasia-facial dysmorphism syndrome",["Intellectual disability-loss of expressive language-facial dysmorphism syndrome","SETBP1 haploinsufficiency disorder","SETBP1-HD"]],[436159,"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency",["ALPS due to CTLA4 haploinsuffiency","CHAI","CTLA-4 haploinsufficiency with autoimmune infiltration disease"]],[436166,"Periodic fever-infantile enterocolitis-autoinflammatory syndrome",["NLRC4-related autoinflammatory syndrome with macrophage activation syndrome","NLRC4-related infantile enterocolitis-autoinflammatory syndrome","NLRC4-related macrophage activation syndrome","NLRC4-related MAS","NLRC4-related autoinflammatory syndrome with MAS"]],[436169,"Thrombomodulin-related bleeding disorder",["THBD-related bleeding disorder","THBD-related coagulopathy","Thrombomodulin-related coagulopathy"]],[436174,"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome",["CAGSSS"]],[436182,"Microcephalic primordial dwarfism-insulin resistance syndrome"],[436242,"Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"],[436245,"Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome",["Retinal dystrophy-juvenile cataract-short stature syndrome"]],[436252,"Combined immunodeficiency-multiple intestinal atresia",["CID-MIA/early-onset IBD"]],[436271,"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"],[436274,"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa",["PXE-like syndrome with retinitis pigmentosa"]],[437552,"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity",["Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity","CD16 deficiency"]],[437572,"OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy",["OBSOLETE: MYH7-related late-onset SPMD","OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome"]],[438072,"Disorder of keton body transport"],[438075,"Ketoacidosis due to monocarboxylate transporter-1 deficiency"],[438114,"RARS-related autosomal recessive hypomyelinating leukodystrophy"],[438117,"Steel syndrome",["Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome"]],[438134,"PCNA-related progressive neurodegenerative photosensitivity syndrome"],[438159,"STAT3-related early-onset multisystem autoimmune disease"],[438178,"Fatty acyl-CoA reductase 1 deficiency",["FAR1 deficiency","PFCRD","Peroxisomal fatty acyl-CoA reductase 1 disorder"]],[438207,"Severe autosomal recessive macrothrombocytopenia"],[438213,"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"],[438216,"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"],[438266,"Progressive encephalomyelitis with rigidity and myoclonus",["PERM"]],[438274,"GCGR-related hyperglucagonemia",["Mahvash disease"]],[438279,"Human infection by orthopoxvirus"],[439167,"Placental insufficiency",["Uteroplacental vascular insufficiency"]],[439175,"Pediatric arterial ischemic stroke",["Childhood AIS","Childhood arterial ischemic stroke","Pediatric AIS"]],[439196,"Zinc-responsive necrolytic acral erythema",["Necrolytic acral erythema","NAE"]],[439202,"Non-recovering obstetric brachial plexus lesion",["Chronic obstetric brachial plexus injury","Chronic obstetric brachial plexus palsy","Non-recovering OBPI","Non-recovering OBPL"]],[439212,"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome",["EMARDD"]],[439218,"KCNQ2-related developmental and epileptic encephalopathy",["KCNQ2-DEE"]],[439224,"ALECT2 amyloidosis",["Leukocyte chemotactic factor-2 amyloidosis"]],[439232,"AApoAIV amyloidosis",["Apolipoprotein A-IV amyloidosis"]],[439246,"ABeta2M amyloidosis",["Beta2-microglobulinic amyloidosis"]],[439254,"ITM2B amyloidosis",["Familial cerebral amyloid angiopathy","ITM2B-related amyloidosis","ITM2B-related cerebral amyloid angiopathy"]],[439729,"Cutaneous polyarteritis nodosa",["Cutaneous PAN","Cutaneous periarteritis nodosa"]],[439737,"Primary polyarteritis nodosa",["Primary PAN","Primary periarteritis nodosa"]],[439746,"Secondary polyarteritis nodosa",["Secondary PAN","Secondary periarteritis nodosa"]],[439755,"Single-organ polyarteritis nodosa",["Single-organ PAN","Single-organ periarteritis nodosa"]],[439762,"Systemic polyarteritis nodosa",["Systemic PAN","Systemic periarteritis nodosa"]],[439822,"PDE4D haploinsufficiency syndrome"],[439849,"Autosomal recessive severe congenital neutropenia"],[439854,"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease",["Fatal congenital hypertrophic cardiomyopathy due to glycogenosis","Fatal congenital hypertrophic cardiomyopathy due to GSD"]],[439881,"Plastic bronchitis",["Croupous bronchitis","Fibrinous bronchitis","Pseudo-membranous bronchitis"]],[439897,"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"],[440221,"Congenital oculomotor nerve palsy",["Congenital CNIII lesion","Congenital third cranial nerve palsy"]],[440233,"Congenital abducens nerve palsy",["Benign congenital sixth cranial nerve palsy","Congenital CNVI palsy"]],[440354,"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome",["Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome"]],[440368,"Necrotizing soft tissue infection",["NSTI"]],[440392,"Interstitial lung disease due to SP-C deficiency",["Interstitial lung disease due to surfactant protein C deficiency"]],[440402,"Interstitial lung disease due to ABCA3 deficiency",["Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency"]],[440427,"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",["Hereditary pulmonary alveolar proteinosis with hepatic involvement","Interstitial lung and liver disease","PAP, Reunion island type","Pulmonary alveolar proteinosis, Reunion island type"]],[440437,"Familial colorectal cancer Type X",["FCCTX"]],[440701,"Disorders of pentose/polyol metabolism"],[440706,"Ribose-5-P isomerase deficiency"],[440713,"Isolated sedoheptulokinase deficiency",["Isolated SHPK deficiency"]],[440724,"OBSOLETE: Extensive peripapillary myelinated nerve fibers"],[440727,"Combined hamartoma of the retina and retinal pigment epithelium",["CHR-RPE","Combined hamartoma of the retina and RPE"]],[440731,"L-ferritin deficiency"],[440987,"Isolated agenesis of gallbladder"],[441344,"OBSOLETE: Autosomal recessive optic atrophy, OPA9 type"],[441434,"Syndromic hereditary optic neuropathy"],[441447,"Early-onset posterior subcapsular cataract"],[441452,"Early-onset lamellar cataract"],[442582,"AH amyloidosis",["Heavy chain amyloidosis"]],[442835,"Non-specific early-onset epileptic encephalopathy",["Non-specific EOEE","Undetermined EOEE","Undetermined early-onset epileptic encephalopathy"]],[443057,"Sporadic porphyria cutanea tarda",["Porphyria cutanea tarda type I"]],[443062,"Familial porphyria cutanea tarda",["Porphyria cutanea tarda type II"]],[443070,"Hemicrania continua"],[443073,"Charcot-Marie-Tooth disease type 2S",["CMT2S"]],[443079,"Central serous chorioretinopathy",["CSCR"]],[443084,"Baroreflex failure"],[443087,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",["46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"]],[443090,"46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect",["46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect"]],[443095,"Hyperinsulinemic hypoglycaemia"],[443098,"Hyperostosis cranialis interna"],[443101,"Hypothalamic adipsic hypernatraemia syndrome"],[443159,"Lymphoplasmacytic lymphoma without IgM production",["Lymphoplasmacytic lymphoma without Immunoglobulin M production"]],[443162,"NDE1-related microhydranencephaly",["MHAC"]],[443167,"NUT midline carcinoma",["NMC"]],[443173,"Postpartum psychosis",["Puerperal psychosis"]],[443180,"Spontaneous intracranial hypotension",["Spontaneous cerebrospinal fluid leak"]],[443192,"Classic stiff person syndrome",["Classic SPS","Classic stiff man syndrome","Classic SMS"]],[443197,"X-linked erythropoietic protoporphyria",["X-linked dominant erythropoietic protoporphyria","X-linked dominant protoporphyria","XLDPP","XLPP"]],[443227,"Paratyphoid fever"],[443236,"Postural orthostatic tachycardia syndrome due to NET deficiency",["Familial orthostatic tachycardia due to norepinephrine transporter deficiency","Orthostatic intolerance due to NET deficiency","POTS due to NET deficiency"]],[443287,"OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor"],[443291,"HIV-associated cancer",["HIV-related cancer"]],[443301,"OBSOLETE: HIV-related lung cancer"],[443304,"OBSOLETE: HIV-related oropharyngeal cancer"],[443307,"OBSOLETE: HIV-related anal cancer"],[443310,"OBSOLETE: HIV-related hepatocellular carcinoma"],[443313,"OBSOLETE: HIV-related penile cancer"],[443316,"OBSOLETE: HIV-related Hodgkin lymphoma"],[443319,"OBSOLETE: HIV-related vulvovaginal cancer"],[443322,"OBSOLETE: HIV-related cervical cancer"],[443325,"OBSOLETE: HIV-related Non-Hodgkin lymphoma"],[443328,"OBSOLETE: HIV-related Kaposi sarcoma"],[443804,"Focal stiff limb syndrome",["Focal stiff-person syndrome","Stiff leg syndrome"]],[443811,"PGM3-CDG",["CID due to PGM3 deficiency","Combined immunodeficiency due to PGM3 deficiency","PGM3-related congenital disorder of glycosylation"]],[443909,"Hereditary nonpolyposis colon cancer",["Familial nonpolyposis colon cancer","Familial nonpolyposis colorectal cancer","HNPCC","Hereditary nonpolyposis colorectal cancer"]],[443950,"DNAJB2-related Charcot-Marie-Tooth disease type 2",["DNAJB2-related CMT2"]],[443988,"Ventriculomegaly-cystic kidney disease",["Congenital nephrosis-cerebral ventriculomegaly syndrome","VMCKD"]],[443995,"Mandibulofacial dysostosis with alopecia",["MFDA"]],[444002,"11q22.2q22.3 microdeletion syndrome",["Del(11)(q22.2q22.3)","Monosomy 11q22.2q22.3"]],[444013,"Combined oxidative phosphorylation defect type 23",["COXPD23"]],[444048,"46,XX ovarian dysgenesis-short stature syndrome"],[444051,"20q11.2 microdeletion syndrome",["Del(20)(q11.2)","Monosomy 20q11"]],[444069,"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"],[444072,"Cerebellar-facial-dental syndrome",["Cerebellofaciodental syndrome"]],[444077,"Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome",["CHOPS syndrome"]],[444092,"Autoimmune interstitial lung disease-arthritis syndrome",["COPA syndrome"]],[444099,"Autosomal dominant spastic paraplegia type 73",["SPG73"]],[444116,"Hereditary amyloidosis"],[444138,"Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome",["PLACK syndrome"]],[444316,"Idiopathic phalangeal acro-osteolysis",["Idiopathic phalangeal acroosteolysis"]],[444458,"Combined oxidative phosphorylation defect type 24",["COXPD24"]],[444463,"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency",["Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II","Evans syndrome associated with primary immunodeficiency","TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease","TRIANGLE disease"]],[444490,"Familial chylomicronemia syndrome"],[444916,"Pseudohypoaldosteronism"],[444941,"Caudal regression-sirenomelia spectrum"],[445018,"Syndromic autoimmune enteropathy due to LRBA deficiency",["Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein"]],[445038,"3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome",["3-methylglutaconic aciduria type 7","MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome","MGA7"]],[445062,"Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome",["Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome","Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome"]],[445110,"Limb-girdle muscular dystrophy due to POMK deficiency",["LGMD due to POMK deficiency"]],[445197,"Secondary vasculitis"],[447731,"NIK deficiency",["Primary immunodeficiency with multifaceted aberrant lymphoid immunity"]],[447737,"Combined immunodeficiency due to DOCK2 deficiency",["CID due to DOCK2 deficiency","Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency"]],[447740,"Aggressive periodontitis",["AgP","Juvenile periodontitis","Susceptibility to localized juvenile periodontitis"]],[447753,"Autosomal dominant spastic paraplegia type 9A",["AD-SPG9A","Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome","Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome"]],[447757,"Autosomal dominant spastic paraplegia type 9B",["AD-SPG9B"]],[447760,"Autosomal recessive spastic paraplegia type 9B",["AR-SPG9B"]],[447764,"IgG4-related sclerosing cholangitis"],[447771,"Sclerosing cholangitis"],[447774,"Secondary sclerosing cholangitis"],[447777,"Keratocystic odontogenic tumor",["KTOC","Odontogenic keratocystoma"]],[447784,"Mitochondrial pyruvate carrier deficiency"],[447788,"Cerebral visual impairment",["Cortical visual impairment"]],[447792,"OBSOLETE: Hemochromatosis type 5"],[447795,"Lipoyl transferase 2 deficiency"],[447874,"Biological anomaly without phenotypic characterization"],[447877,"Polymerase proofreading-related polyposis",["PPAP","Polymerase proofreading-related adenomatous polyposis"]],[447881,"Idiopathic dropped head syndrome",["Isolated neck extensor myopathy"]],[447893,"Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"],[447896,"Tremor-ataxia-central hypomyelination syndrome",["TACH syndrome"]],[447954,"Combined oxidative phosphorylation defect type 25",["COXPD25"]],[447961,"Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"],[447964,"Autosomal dominant Charcot-Marie-Tooth disease type 2V",["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation","CMT2V","Hereditary adult-onset painful axonal polyneuropathy"]],[447974,"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"],[447977,"Progressive scapulohumeroperoneal distal myopathy"],[447980,"19p13.3 microduplication syndrome",["Dup(19)(p13.3)"]],[447985,"Partial duplication of the short arm of chromosome 19 syndrome",["Partial duplication of chromosome 19p","Partial trisomy of chromosome 19p","Partial trisomy of the short arm of chromosome 19"]],[447997,"Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",["ASCT1 deficiency","Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"]],[448010,"CAD-CDG",["CDG syndrome type Iz","CDG-Iz","CDG1Z","Carbohydrate deficient glycoprotein syndrome type Iz","Congenital disorder of glycosylation type 1z"]],[448237,"Zika virus disease",["Zika virus infection"]],[448242,"Autosomal recessive brachyolmia",["Brachyolmia, Hobaek/Toledo type"]],[448251,"Progressive autosomal recessive ataxia-deafness syndrome",["Lichtenstein-Knorr syndrome","Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome","SCAR19"]],[448264,"Isolated focal non-epidermolytic palmoplantar keratoderma"],[448267,"Regressive spondylometaphyseal dysplasia"],[448270,"Ectopia cordis",["Extrathoracic heart"]],[448348,"OBSOLETE: X-linked acrogigantism due to a point mutation",["OBSOLETE: Familial infantile gigantism due to a point mutation","OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation"]],[448372,"OBSOLETE: X-linked acrogigantism due to Xq26 microduplication",["OBSOLETE: Familial infantile gigantism due to Xq26 microduplication","OBSOLETE: Familial infantile gigantism due to dup(X)q(26)","OBSOLETE: X-LAG due to dup(X)q(26)"]],[448426,"Genetic primary orthostatic hypotension"],[449262,"NON RARE IN EUROPE: Primary bile acid malabsorption"],[449266,"Pleural empyema"],[449280,"Scedosporiosis"],[449285,"Snakebite envenomation"],[449291,"OBSOLETE: Symptomatic form of fragile X syndrome in female carriers"],[449395,"IgG4-related kidney disease"],[449400,"IgG4-related aortitis"],[449427,"IgG4-related pachymeningitis",["Idiopathic hypertrophic pachymeningitis"]],[449432,"IgG4-related submandibular gland disease",["Küttner tumor"]],[449563,"IgG4-related ophthalmic disease"],[449566,"Eosinophilic angiocentric fibrosis",["IgG4-related eosinophilic angiocentric fibrosis"]],[450322,"Polyclonal hyperviscosity syndrome"],[451602,"Primary cutaneous plasmacytosis"],[451607,"Cutaneous pseudolymphoma"],[451612,"Familial congenital nasolacrimal duct obstruction"],[453499,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome",["Au-Kline syndrome","HNRNPK-related neurodevelopmental disorder","Okamoto syndrome"]],[453504,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation"],[453510,"Congenital insensitivity to pain with severe intellectual disability",["Congenital absence of pain with severe intellectual disability","Congenital analgesia with severe intellectual disability","Congenital insensitivity to pain with preserved temperature sensation","Congenital insensitivity to pain with severe non-progressive cognitive delay"]],[453521,"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency",["SCAR17","Spinocerebellar ataxia autosomal recessive type 17"]],[453533,"Polyendocrine-polyneuropathy syndrome"],[454700,"Acquired Creutzfeldt-Jakob disease"],[454706,"Progressive muscular atrophy",["PMA"]],[454710,"Anti-p200 pemphigoid"],[454714,"Plasma cell leukemia",["PCL"]],[454718,"Holmes-Adie syndrome",["Adie syndrome","Tonic pupil-tendon areflexia syndrome"]],[454723,"Endometrioid carcinoma of ovary"],[454742,"Variably protease-sensitive prionopathy"],[454745,"Kuru"],[454750,"Isolated tracheoesophageal fistula",["H-type tracheoesophageal fistula"]],[454821,"OBSOLETE: Pleomorphic salivary gland adenoma"],[454831,"Acute radiation syndrome",["Acute radiation sickness"]],[454836,"Avian influenza"],[454840,"NTHL1-related polyposis",["NTHL1-related adenomatous polyposis"]],[454872,"OBSOLETE: Type 1 interferonopathy with immunodeficiency"],[454887,"Corticobasal syndrome"],[456298,"1p35.2 microdeletion syndrome",["Del(1)(p35.2)","Deletion 1p35.2","Monosomy 1p35.2"]],[456312,"Infantile multisystem neurologic-endocrine-pancreatic disease",["IMNEPD"]],[456318,"Hereditary sensory neuropathy-deafness-dementia syndrome",["HSAN1E","HSN1E","Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome"]],[456328,"X-linked myotubular myopathy-abnormal genitalia syndrome",["Xq28 contiguous gene deletion syndrome"]],[456333,"Hereditary neuroendocrine tumor of small intestine",["Hereditary SB-NET","Hereditary SI-NET","Hereditary neuroendocrine tumor of small bowel","Small bowel hereditary neuroendocrine tumor","Small intestine hereditary neuroendocrine tumor"]],[456369,"Polyglucosan body myopathy type 2"],[457050,"Autosomal dominant mitochondrial myopathy with exercise intolerance"],[457059,"OBSOLETE: Pseudohypoparathyroidism with Albright hereditary osteodystrophy"],[457062,"OBSOLETE: Pseudohypoparathyroidism without Albright hereditary osteodystrophy"],[457074,"Congenital nemaline myopathy"],[457077,"TAFRO syndrome",["Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome"]],[457083,"Isolated splenogonadal fusion",["SGF"]],[457088,"Predisposition to invasive fungal disease due to CARD9 deficiency",["Invasive candidiasis-deep dermatophytosis syndrome"]],[457095,"Actinomycosis"],[457185,"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome",["COQ4-related neonatal encephalomyopathy"]],[457193,"KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome",["Arboleda-Tham syndrome","KAT6A syndrome"]],[457205,"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome",["ANOAC","Axonal neuropathy-optic atrophy-cognitive deficit syndrome"]],[457212,"Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"],[457223,"Syndromic sensorineural deafness due to combined oxidative phosphorylation defect",["Syndromic sensorineural deafness due to COXPD","Syndromic sensorineural hearing loss due to COXPD"]],[457240,"X-linked intellectual disability-short stature-overweight syndrome"],[457246,"Clear cell sarcoma of kidney",["CCSK"]],[457252,"Squamous cell carcinoma of the oral tongue",["OTSCC","Oral tongue squamous cell carcinoma"]],[457260,"X-linked intellectual disability-hypotonia-movement disorder syndrome"],[457265,"Progressive myoclonic epilepsy type 9",["PME type 9","Progressive myoclonic epilepsy due to LMNB2 deficiency","Progressive myoclonus epilepsy type 9","EPM9"]],[457279,"Houge-Janssens syndrome type 1",["PPP2R5D-related Houge-Janssens syndrome","PPP2R5D-related neurodevelopmental disorder","HJS1"]],[457284,"Houge-Janssens syndrome type 2",["HJS2","PPP2R1A-related neurodevelopmental disorder","PPP2R1A-related Houge-Janssens syndrome"]],[457351,"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome",["Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome"]],[457359,"Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"],[457365,"Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome"],[457375,"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement",["Martsolf-like syndrome"]],[457378,"Complex lethal osteochondrodysplasia",["Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type"]],[457395,"Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"],[457406,"Multiple mitochondrial dysfunctions syndrome type 4",["MMDS4"]],[457485,"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome",["MINDS syndrome","Smith-Kingsmore syndrome"]],[458713,"NON RARE IN EUROPE: Specific language impairment"],[458718,"Idiopathic spontaneous coronary artery dissection",["Idiopathic SCAD"]],[458758,"Composite hemangioendothelioma",["Polymorphous hemangioendothelioma"]],[458763,"Retiform hemangioendothelioma"],[458768,"Papillary intralymphatic angioendothelioma",["Dabska tumor","PILA","Primary intralymphatic angioendothelioma"]],[458775,"Congenital hemangioma",["Congenital haemangioma","Haemangioma congénitale"]],[458785,"Partially involuting congenital hemangioma",["Partially involuting congenital haemangioma"]],[458792,"Mixed macro and microcystic lymphatic malformation",["Mixed cystic lymphangioma"]],[458798,"Spinocerebellar ataxia type 41",["SCA41"]],[458803,"Spinocerebellar ataxia type 42",["SCA42"]],[458827,"OBSOLETE: Vascular tumor with associated anomalies"],[458830,"Rare capillary malformation with associated anomalies"],[458833,"Isolated lymphatic malformation",["Common cystic lymphatic malformation"]],[458837,"Rare combined vascular malformation"],[458841,"OBSOLETE: Primary lymphedema with associated anomalies"],[458844,"Rare vascular malformation of major vessels"],[459033,"Ataxia-oculomotor apraxia type 4",["AOA4"]],[459051,"Spondyloepiphyseal dysplasia, Stanescu type",["SED, Stanescu type"]],[459056,"Autosomal recessive spastic paraplegia type 75",["SPG75"]],[459061,"Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome",["Developmental delay-short stature-dysmorphic features-sparse hair syndrome","Loucks-Innes syndrome"]],[459070,"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome",["RPL10-related neurodevelopmental disorder","RPL10-related X-linked intellectual disability"]],[459074,"Corpus callosum agenesis-macrocephaly-hypertelorism syndrome",["7q36.3 microduplication syndrome","Dup(7)(q36.3)"]],[459345,"Immunodeficiency due to a complement cascade component deficiency"],[459348,"Immunodeficiency due to a complement regulatory deficiency"],[459353,"OBSOLETE: C1 inhibitor deficiency"],[459526,"Rare genetic capillary malformation"],[459530,"OBSOLETE: Genetic primary lymphedema"],[459537,"Genetic complex vascular malformation with associated anomalies",["Genetic hemangiolymphangioma"]],[459543,"Rare genetic vascular tumor"],[459548,"Rare genetic venous malformation"],[459690,"NON RARE IN EUROPE: Gender dysphoria"],[459696,"NON RARE IN EUROPE: Juvenile idiopathic scoliosis"],[459787,"Lethal multiple congenital anomalies/dysmorphic syndrome"],[464282,"Spastic paraplegia-severe developmental delay-epilepsy syndrome",["SPPRS syndrome","Spastic paraplegia-psychomotor retardation-seizures syndrome"]],[464288,"Short stature-brachydactyly-obesity-global developmental delay syndrome",["SBIDDS"]],[464293,"NON RARE IN EUROPE: Infantile capillary hemangioma"],[464306,"DYRK1A-related intellectual disability syndrome",["DYRK1A syndrome"]],[464311,"Intellectual disability syndrome due to a DYRK1A point mutation",["DYRK1A-related intellectual disability syndrome due to a point mutation"]],[464318,"Verrucous venous malformation",["Verrucous haemangioma","Verrucous hemangioma"]],[464321,"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome",["Cutaneovisceral angiomatosis-thrombocytopenia syndrome","MLT","Multifocal lymphangioendotheliomatosis with thrombocytopenia"]],[464329,"Kaposiform lymphangiomatosis"],[464336,"BENTA disease",["B-cell expansion with NF-kB and T-cell anergy disease"]],[464343,"Catastrophic antiphospholipid syndrome",["CAPS","Catastrophic APS"]],[464359,"Benign metanephric tumor"],[464366,"NEK9-related lethal skeletal dysplasia",["Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"]],[464370,"Neonatal alloimmune neutropenia"],[464440,"Primary dystonia, DYT27 type"],[464443,"COG6-CGD",["CDG2L","Congenital disorder of glycosylation type 2l","Congenital disorder of glycosylation type IIL","CDG syndrome type IIL","CDG-IIL"]],[464453,"Acquired methemoglobinemia",["Drug-induced methemoglobinemia"]],[464458,"Paracetamol poisoning",["Acetaminophen poisoning"]],[464463,"NON RARE IN EUROPE: Adenocarcinoma of stomach",["NON RARE IN EUROPE: Gastric adenocarcinoma"]],[464682,"OBSOLETE: Disorder with acute infantile liver failure"],[464724,"Fever-associated acute infantile liver failure syndrome"],[464738,"Basel-Vanagaite-Smirin-Yosef syndrome"],[464756,"Familial gastric type 1 neuroendocrine tumor"],[464760,"Familial cavitary optic disc anomaly",["Familial CODA"]],[464764,"Immune-mediated acquired neuromuscular junction disease"],[465508,"Symptomatic form of HFE-related hemochromatosis",["Symptomatic form of classic hemochromatosis","Symptomatic form of hemochromatosis type 1"]],[465824,"Fetal encasement syndrome"],[466026,"Class I glucose-6-phosphate dehydrogenase deficiency",["Class I G6PD deficiency","Severe hemolytic anemia due to G6PD deficiency"]],[466066,"Genetic hemoglobinopathy"],[466084,"Genetic otorhinolaryngologic disease"],[466650,"Exercise-induced malignant hyperthermia",["Exertional heat stroke"]],[466658,"Rare disease with malignant hyperthermia"],[466667,"NON RARE IN EUROPE: Colorectal cancer"],[466670,"Cyanide poisoning"],[466673,"NON RARE IN EUROPE: Post-herpetic neuralgia"],[466677,"Scorpion envenomation"],[466682,"Euthyroid Graves orbitopathy",["Euthyroid Graves ophthalmopathy"]],[466688,"Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"],[466695,"Supratip dysplasia"],[466703,"TMEM199-CDG",["CDG syndrome type IIp","CDG-IIp","CDG2P","Carbohydrate deficient glycoprotein syndrome type IIp","Congenital disorder of glycosylation type 2p","Congenital disorder of glycosylation type IIp"]],[466718,"Martinique crinkled retinal pigment epitheliopathy",["MCRPE"]],[466722,"Autosomal recessive spastic paraplegia type 77",["SPG77"]],[466729,"Familial patent arterial duct"],[466732,"OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome",["OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome"]],[466768,"Autosomal dominant Charcot-Marie-Tooth disease type 2Z",["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation","CMT2Z"]],[466775,"Autosomal recessive Charcot-Marie-Tooth disease type 2X",["Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation","CMT2X","ARCMT2X"]],[466784,"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect",["COXPD28","Combined oxidative phosphorylation defect type 28"]],[466791,"Macrocephaly-intellectual disability-left ventricular non compaction syndrome"],[466794,"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",["Autosomal recessive spinocerebellar ataxia type 21","SCAR21"]],[466801,"OBSOLETE: LIMS2-related myopathy"],[466806,"Autosomal dominant thrombocytopenia with platelet secretion defect"],[466921,"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"],[466926,"Seizures-scoliosis-macrocephaly syndrome",["SSM syndrome"]],[466934,"VPS11-related autosomal recessive hypomyelinating leukodystrophy",["VPS11-related autosomal recessive hypomyelinating leukoencephalopathy"]],[466943,"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome",["DESSH","Desanto-Shinawi syndrome"]],[466950,"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation",["Desanto-Shinawi syndrome due to WAC point mutation"]],[466962,"SMARCA4-deficient sarcoma of thorax",["SMARCA4-deficient thoracic sarcoma"]],[467166,"Tubulinopathy-associated dysgyria",["Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"]],[467176,"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"],[468620,"Intellectual disability-epilepsy-extrapyramidal syndrome"],[468631,"Microcephalic cortical malformations-short stature due to RTTN deficiency"],[468635,"Cryptogenic multifocal ulcerous stenosing enteritis",["CMUSE"]],[468641,"Chronic enteropathy associated with SLCO2A1 gene",["CEAS"]],[468661,"Autosomal recessive spastic paraplegia type 74",["SPG74"]],[468666,"Isolated generalized anhidrosis with normal sweat glands"],[468672,"Colobomatous macrophthalmia-microcornea syndrome",["MACOM syndrome"]],[468678,"White-Sutton syndrome",["Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"]],[468684,"CCDC115-CDG",["CDG syndrome type IIo","CDG-IIo","CDG2O","Carbohydrate deficient glycoprotein syndrome type IIo","Congenital disorder of glycosylation type 2o","Congenital disorder of glycosylation type IIo"]],[468699,"SLC39A8-CDG",["CDG syndrome type IIn","CDG-IIn","CDG2N","Carbohydrate deficient glycoprotein syndrome type IIn","Congenital disorder of glycosylation type 2n","Congenital disorder of glycosylation type IIn","SLC39A8 deficiency"]],[468717,"Rhizomelic chondrodysplasia punctata type 5"],[468726,"Severe primary trimethylaminuria",["TMAU"]],[471383,"Genetic lethal multiple congenital anomalies/dysmorphic syndrome"],[474347,"Rare congenital anomaly of ventricular septum",["Congenital anomaly of interventricular communication","Congenital ventricular septal anomaly"]],[476084,"BVES-related limb-girdle muscular dystrophy",["Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome","BVES-related LGMD","LGMD R25 BVES-related","LGMD type 2X","LGMD2X","Limb-girdle muscular dystrophy 2X"]],[476093,"HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",["MFM13","Myofibrillar myopathy-rimmed vacuoles type 13"]],[476096,"Erythrokeratodermia-cardiomyopathy syndrome",["EKC syndrome"]],[476102,"OBSOLETE: Hereditary pediatric Behçet-like disease",["OBSOLETE: Behçet-like disease due to HA20","OBSOLETE: Behçet-like disease due to haploinsufficiency of A20"]],[476109,"Axonal hereditary motor and sensory neuropathy",["Axonal HMSN"]],[476113,"Combined immunodeficiency due to TFRC deficiency",["CID due to TFRC deficiency","TFRC-related combined immunodeficiency"]],[476116,"Demyelinating hereditary motor and sensory neuropathy",["Demyelinating HMSN"]],[476119,"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"],[476123,"Intermediate Charcot-Marie-Tooth disease",["Intermediate CMT","Intermediate hereditary motor and sensory neuropathy"]],[476126,"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"],[476394,"PMP2-related Charcot-Marie-Tooth disease type 1",["PMP2-related CMT1","PMP2-related Charcot-Marie-Tooth neuropathy type 1","PMP2-related hereditary motor and sensory neuropathy type 1"]],[476403,"Hypercontractile muscle stiffness syndrome"],[476406,"Congenital generalized hypercontractile muscle stiffness syndrome"],[477647,"Type 1 interferonopathy"],[477650,"Fibroblastic rheumatism"],[477661,"IL21-related infantile inflammatory bowel disease",["IL21-related infantile IBD"]],[477668,"OBSOLETE: AymÚ-Gripp syndrome"],[477673,"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"],[477684,"Combined oxidative phosphorylation defect type 26",["COXPD26"]],[477697,"OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome",["OBSOLETE: Familial platelet disorder with predisposition to hematological cancer"]],[477738,"Pediatric multiple sclerosis"],[477742,"Nodular fasciitis",["Pseudosarcomatous fasciitis","Pseudosarcomatous fibromatosis"]],[477749,"Pontine autosomal dominant microangiopathy with leukoencephalopathy",["PADMAL"]],[477754,"Genetic cerebral small vessel disease"],[477759,"COL4A1 or COL4A2-related cerebral small vessel disease",["COL4A1 or COL4A2-related cerebral angiopathy"]],[477762,"COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency",["COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency"]],[477765,"COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency",["COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency"]],[477768,"Moyamoya angiopathy"],[477771,"Rare disorder with a moyamoya angiopathy"],[477774,"Combined oxidative phosphorylation defect type 27",["COXPD27"]],[477781,"Primary condylar hyperplasia",["Type 1 condylar hyperplasia"]],[477787,"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder",["PLA2G4A-related platelet dysfunction","Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency"]],[477794,"Syndromic constitutional thrombocytopenia"],[477797,"Isolated constitutional thrombocytopenia",["Constitutional thrombocytopenia without extra-hematopoietic manifestations","Non-syndromic constitutional thrombocytopenia"]],[477805,"Genetic cardiac malformation"],[477808,"Other genetic dermis disorder"],[477811,"Rare hypercholesterolemia"],[477814,"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"],[477817,"PMP22-RAI1 contiguous gene duplication syndrome",["17p11.2p12 microduplication syndrome","Dup(17)(p11.2p12)","Trisomy 17p11.2-p12","Trisomy 17p11.2p12","Yuan-Harel-Lupski syndrome"]],[477831,"Kosaki overgrowth syndrome",["Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"]],[477857,"Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency",["MSMD due to complete RORgamma receptor defiency","Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency","Primary immunodeficiency due to RORC mutation"]],[477993,"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome",["Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome"]],[478029,"Combined oxidative phosphorylation defect type 29",["COXPD29"]],[478042,"Combined oxidative phosphorylation defect type 30",["COXPD30"]],[478049,"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"],[478664,"Hereditary sensory and autonomic neuropathy type 8",["HSAN8","Hereditary sensory and autonomic neuropathy type VIII"]],[480476,"Progressive familial intrahepatic cholestasis type 5",["NR1H4 deficiency","PFIC5"]],[480483,"Progressive familial intrahepatic cholestasis type 4",["PFIC4","TJP2 deficit"]],[480491,"MYO5B-related progressive familial intrahepatic cholestasis",["MYO5B deficiency"]],[480501,"Choledochal cyst",["Congenital cystic dilatation of the biliary tract"]],[480506,"Primary intrahepatic lithiasis",["PIHL","Primary hepatolithiasis"]],[480512,"Idiopathic ductopenia",["Idiopathic adult ductopenia","IAD"]],[480520,"Caroli syndrome"],[480524,"Idiopathic peliosis hepatis",["Idiopathic peliosis hepatitis"]],[480528,"Lethal hydranencephaly-diaphragmatic hernia syndrome"],[480531,"Congenital portosystemic shunt",["Congenital portosystemic venous fistula"]],[480536,"MSH3-related polyposis",["MSH3-related adenomatous polyposis"]],[480541,"High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement"],[480549,"Non-severe combined immunodeficiency",["Non-SCID"]],[480553,"Aneurysmal bone cyst"],[480556,"Isolated neonatal sclerosing cholangitis"],[480682,"POGLUT1-related limb-girdle muscular dystrophy R21",["Autosomal recessive limb-girdle muscular dystrophy type 2Z","LGMD type 2Z","LGMD2Z","Limb-girdle muscular dystrophy type 2Z","POGLUT1-related LGMD R21"]],[480701,"Facial diplegia with paresthesias",["Facial diplegia with paresthesias variant of GBS","Facial diplegia with paresthesias variant of Guillain-Barré syndrome"]],[480773,"OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome"],[480851,"Hereditary thrombocytopenia with early-onset myelofibrosis"],[480864,"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome",["TANGO2-related metabolic encephalopathy-arrhythmia syndrome"]],[480880,"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability",["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"]],[480898,"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"],[480907,"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"],[481152,"PYCR2-related microcephaly-progressive leukoencephalopathy"],[481469,"OBSOLETE: Gastric neuroendocrine tumor type 1",["OBSOLETE: GNET type 1"]],[481475,"OBSOLETE: Gastric neuroendocrine tumor type 2",["OBSOLETE: GNET type 2"]],[481478,"OBSOLETE: Gastric neuroendocrine tumor type 3",["OBSOLETE: GNET type 3"]],[481481,"OBSOLETE: Gastric neuroendocrine tumor type 4",["OBSOLETE: GNET type 4"]],[481508,"Gastroenteric neuroendocrine neoplasm"],[481662,"Familial Chilblain lupus"],[481665,"Pseudo-TORCH syndrome type 2",["Pseudo-TORCH syndrome due to USP18 deficiency","USP18-related pseudo-TORCH syndrome","PTORCH2","Pseudo-TORCH syndrome-2"]],[481671,"Type 1 interferonopathy of childhood"],[481771,"Genetic alopecia"],[481986,"Familial schizencephaly"],[482072,"HTRA1-related cerebral small vessel disease",["HTRA1-related cerebral angiopathy"]],[482077,"HTRA1-related autosomal dominant cerebral small vessel disease",["HTRA1-related autosomal dominant cerebral angiopathy"]],[482092,"Rare idiopathic macular telangiectasia"],[482601,"Adenylosuccinate synthetase-like 1-related distal myopathy",["ADSSL1-related distal myopathy"]],[482606,"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"],[485275,"Acquired schizencephaly"],[485350,"CLCN4-related X-linked intellectual disability syndrome",["Raynaud-Claes syndrome"]],[485358,"Propylthiouracil embryofetopathy",["PTU embryofetopathy","PTU embryopathy","Propylthiouracil embryopathy"]],[485382,"Rare genetic premature ovarian failure"],[485405,"16p12.1p12.3 triplication syndrome",["Tetrasomy 16p12.1p12.3","Trip(16)(p12.1p12.3)"]],[485418,"EMILIN-1-related connective tissue disease"],[485421,"MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect",["Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome","Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome"]],[485426,"Isolated congenital hepatic fibrosis",["Isolated CHF"]],[485631,"Congenital bile acid synthesis defect",["BASD"]],[486811,"Prenatal-onset spinal muscular atrophy with congenital bone fractures",["SMABF"]],[486815,"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome",["Congenital muscular dystrophy, Davignon-Chauveau type"]],[486955,"Rare pediatric rheumatologic disease"],[487796,"Takenouchi-Kosaki syndrome",["Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"]],[487809,"Pediatric collagenous gastritis",["Childhood-onset collagenous gastritis"]],[487814,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation",["CMT2 due to DGAT2 mutation"]],[487825,"Pierpont syndrome",["Plantar lipomatosis-facial dysmorphism-developmental delay syndrome","Plantar lipomatosis-unusual facies-developmental delay syndrome"]],[488168,"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome",["SMO deficiency","Sterol-C4-methyl oxidase deficiency"]],[488191,"Female infertility due to oocyte meiotic arrest"],[488197,"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"],[488201,"NON RARE IN EUROPE: Non-small cell lung cancer",["NON RARE IN EUROPE: NSCLC"]],[488232,"Split-foot malformation-mesoaxial polydactyly syndrome",["SFMMP","Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"]],[488239,"Acute macular neuroretinopathy",["AMNR"]],[488265,"Osteofibrous dysplasia",["OFD"]],[488280,"14q32 duplication syndrome",["Dup(14)q(32)","Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication","Trisomy 14q32"]],[488333,"Autosomal dominant Charcot-Marie-Tooth disease type 2W",["Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation","CMT2W"]],[488434,"Camptodactyly syndrome, Guadalajara type 3"],[488437,"SIX2-related frontonasal dysplasia",["SIX2-related FND"]],[488586,"Congenital amyoplasia",["Amyoplasia congenita"]],[488594,"Autosomal recessive spastic paraplegia type 76",["SPG76"]],[488613,"Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"],[488618,"Transketolase deficiency",["Short stature-developmental delay-congenital heart defect syndrome","TKT deficiency"]],[488627,"Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"],[488632,"TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome"],[488635,"Early-onset epilepsy-intellectual disability-brain anomalies syndrome",["Congenital disorder of glycosylation due to PIGG deficiency","PIGG-CDG"]],[488642,"TELO2-related intellectual disability-neurodevelopmental disorder",["You-Hoover-Fong syndrome"]],[488647,"DDX41-related hematologic malignancy predisposition syndrome"],[488650,"Distal myopathy, Tateyama type"],[493342,"Vibratory urticaria",["Vibratory angioedema/urticaria"]],[493348,"OBSOLETE: Vibratory angioedema"],[494344,"RERE-related neurodevelopmental syndrome"],[494348,"Early-onset familial noncirrhotic portal hypertension"],[494418,"Vulvar carcinoma",["Carcinoma of vulva"]],[494421,"Sacrococcygeal teratoma"],[494424,"Extracranial carotid artery aneurysm",["ECAA","ECCA"]],[494428,"Idiopathic pleuroparenchymal fibroelastosis",["IPPFE","Idiopathic pleuropulmonary fibroelastosis"]],[494433,"MIRAGE syndrome",["Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome","Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome"]],[494439,"Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome",["Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome"]],[494444,"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome",["DIAPH1-related sensorineural deafness-thrombocytopenia syndrome"]],[494448,"Vulvar squamous cell carcinoma",["Squamous cell carcinoma of the vulva"]],[494451,"Vulvar basal cell carcinoma",["Basal cell carcinoma of vulva"]],[494454,"Vulvar adenocarcinoma",["Adenocarcinoma of the vulva"]],[494457,"Rare hyperkinetic movement disorder"],[494526,"Infantile-onset generalized dyskinesia with orofacial involvement",["Infantile-onset orofacial-trunk-limbs dyskinesia"]],[494541,"Childhood-onset benign chorea with striatal involvement"],[494547,"Squamous cell carcinoma of the hypopharynx"],[494550,"Squamous cell carcinoma of the larynx"],[495274,"Charcot-Marie-Tooth disease type 2T",["AR-CMT2T","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T","CMT2T"]],[495818,"9q33.3q34.11 microdeletion syndrome",["Del(9)(q33.3q34.11)","Deletion 9q33.3q34.11","Monosomy 9q33.3q34.11"]],[495844,"C11ORF73-related autosomal recessive hypomyelinating leukodystrophy",["C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy","Hypomyelinating leukodystrophy due to hikeshi deficiency"]],[495875,"Cerebello-oculo-facio-genital syndrome",["Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome","COFG syndrome","Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"]],[495879,"Congenital agenesis of the scrotum",["Congenital absence of the scrotum","Congenital scrotal absence","Congenital scrotal agenesis"]],[495930,"Familial monosomy 7 syndrome"],[496641,"Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"],[496686,"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"],[496689,"Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome",["Kyphoscoliosis-lateral tongue atrophy-HSP syndrome"]],[496693,"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome",["Gershoni-Baruch syndrome"]],[496751,"EVEN-plus syndrome",["Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome"]],[496756,"Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"],[496790,"Ocular anomalies-axonal neuropathy-developmental delay syndrome",["Harel-Yoon syndrome"]],[496916,"Rare genetic hyperkinetic movement disorder"],[496924,"Non-inflammatory vasculopathy"],[497188,"Diffuse intrinsic pontine glioma",["DIPG"]],[497623,"C12ORF65-related combined oxidative phosphorylation defect",["C12ORF65-related COXPD"]],[497737,"Epidermolytic nevus",["Epidermal nevus with epidermolytic hyperkeratosis","Epidermolytic epidermal nevus","Epidermolytic verrucous epidermal nevus"]],[497757,"MME-related autosomal dominant Charcot Marie Tooth disease type 2",["MME-related autosomal dominant CMT2","MME-related autosomal dominant hereditary motor and sensory neuropathy type 2"]],[497764,"Spinocerebellar ataxia type 43",["SCA43"]],[497906,"Childhood-onset basal ganglia degeneration syndrome",["Lenk-Ploski syndrome"]],[498228,"Phyllodes tumor of the prostate",["Cystic epithelial-stromal tumors of the prostate","Cystosarcoma phyllodes of the prostate","Phyllodes type of atypical prostatic hyperplasia"]],[498251,"Menstrual cycle-dependent periodic fever",["Luteal-phase-dependent febrile episode","Luteal-phase-dependent periodic fever","Menstrual cycle-dependent febrile episode"]],[498345,"Biliary atresia and associated disorders"],[498350,"Syndromic biliary atresia"],[498359,"Aquagenic palmoplantar keratoderma",["Aquagenic keratoderma","Aquagenic syringeal acrokeratoderma","Aquagenic wrinkling of the palms","Transient reactive papulotranslucent acrokeratoderma"]],[498445,"Genetic inflammatory or rheumatoid-like osteoarthropathy"],[498448,"Overgrowth or tall stature syndrome with skeletal involvement"],[498451,"Dysostosis with brachydactyly without extraskeletal manifestations"],[498454,"Dysostosis with brachydactyly with extraskeletal manifestations"],[498457,"Non-syndromic longitudinal limb defect"],[498461,"Non-syndromic terminal transverse limb defect"],[498464,"Non-syndromic preaxial polydactyly"],[498467,"Non-syndromic postaxial polydactyly"],[498470,"Non-syndromic complex polydactyly"],[498474,"Hyaline fibromatosis syndrome"],[498477,"Ectrodactyly with and without other manifestations"],[498481,"LRP5-related primary osteoporosis"],[498485,"Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"],[498488,"Overgrowth syndrome with 2q37 translocation"],[498491,"Non-syndromic complete hemimelia"],[498494,"Mirror-image polydactyly"],[498497,"Short rib-polydactyly syndrome type 5"],[498602,"Sugarman brachydactyly",["Sugarman-Hager-Kulik syndrome"]],[498693,"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome",["MYBPC1-related autosomal recessive non-lethal AMC syndrome"]],[498700,"OBSOLETE: Limbic encephalitis with neurexin-3 antibodies"],[499004,"OBSOLETE: Tuberculous meningitis"],[499009,"Congenital syphilis",["MTCT of syphilis","Mother-to-child transmission of syphilis"]],[499047,"Autoimmune/inflammatory optic neuropathy"],[499085,"Chronic relapsing inflammatory optic neuritis",["CRION"]],[499096,"Isolated optic neuritis",["ION"]],[499103,"Recurrent idiopathic neuroretinitis",["RINR"]],[499107,"Idiopathic optic perineuritis",["Idiopathic OPN"]],[499182,"Pilomatrix carcinoma",["Calcified epithelial carcinoma of Malherbe","Calcifying epitheliocarcinoma","Malignant pilomatricoma","Trichomatrical carcinoma"]],[500055,"Hao-Fountain syndrome due to 16p13.2 microdeletion",["Chromosome 16p13.2 deletion syndrome","Del(16)(p13.2)","Monosomy 16p13.2"]],[500062,"Infantile-onset periodic fever-panniculitis-dermatosis syndrome",["ORAS","OTULIN deficiency","OTULIN-related autoinflammatory syndrome","Otulipenia"]],[500095,"Tall stature-intellectual disability-renal anomalies syndrome",["Thauvin-Robinet-Faivre syndrome"]],[500135,"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome",["MARCH syndrome"]],[500144,"Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome",["Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome","PEBAS"]],[500150,"ZTTK syndrome",["Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome","Zhu-Tokita-Takenouchi-Kim syndrome"]],[500159,"Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome"],[500163,"Witteveen-Kolk syndrome",["SIN3A-related intellectual disability syndrome","WITKOS"]],[500166,"SIN3-related intellectual disability syndrome due to a point mutation"],[500180,"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder",["CONDBA"]],[500188,"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"],[500464,"Squamous cell carcinoma of the nasal cavity and paranasal sinuses",["Squamous cell carcinoma of the nasal cavity and sinuses"]],[500478,"Squamous cell carcinoma of the oropharynx"],[500481,"OBSOLETE: Squamous cell carcinoma of salivary glands"],[500533,"Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome",["PMSE syndrome"]],[500545,"Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"],[500548,"Osteosclerotic metaphyseal dysplasia"],[502305,"Cochleovestibular malformation"],[502318,"Cochlear nerve deficiency"],[502363,"Squamous cell carcinoma of the oral cavity"],[502366,"Squamous cell carcinoma of the lip"],[502369,"Squamous cell carcinoma of oral cavity and lip"],[502423,"Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome",["Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome"]],[502430,"Weiss-Kruszka Syndrome",["Metopic ridging-ptosis-facial dysmorphism syndrome"]],[502434,"STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome"],[502437,"4q25 proximal deletion syndrome",["Proximal del(4)(q25)","Proximal monosomy 4q25"]],[502444,"Alkaline ceramidase 3 deficiency",["ACER3-related early childhood-onset progressive leukodystrophy","Leukodystrophy due to alkaline ceramidase 3 deficiency"]],[502499,"Erythema multiforme major",["Erythema exsudativum multiforme majus","Erythema multiforme majus"]],[504476,"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",["CABV syndrome","CANVAS","Cerebellar ataxia with bilateral vestibulopathy syndrome"]],[504523,"T-B+NK+ severe combined immunodeficiency due to LAT deficiency",["T-B+NK+ SCID due to LAT deficiency"]],[504530,"Combined immunodeficiency due to Moesin deficiency",["CID due to Moesin deficiency","MSN-related combined immunodeficiency","X-linked Moesin-associated immunodeficiency"]],[505208,"3-methylglutaconic aciduria type 8",["MGA8"]],[505216,"3-methylglutaconic aciduria type 9",["3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome","MGA9"]],[505227,"Combined immunodeficiency due to GINS1 deficiency",["CID due to GINS1 deficiency","Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia","Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia"]],[505237,"Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome"],[505242,"Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome",["Cerebrorenal syndrome, Perez type"]],[505248,"Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders",["Mucopolysaccharidosis-like plus disease"]],[505395,"Ventilator-induced diaphragmatic dysfunction",["VIDD"]],[505652,"CDKL5-deficiency disorder",["CDD"]],[506052,"Neuroendocrine neoplasm of pancreas",["PNEN","Pancreatic NEN","Pancreatic neuroendocrine neoplasm"]],[506060,"Functioning neuroendocrine tumor of pancreas",["Functioning PNET","Functioning pancreatic NET","Functioning pancreatic neuroendocrine tumor","Functioning well-differentiated NEN of pancreas","Functioning well-differentiated neuroendocrine neoplasm of pancreas","Functioning well-differentiated pancreatic NEN","Functioning well-differentiated pancreatic neuroendocrine neoplasm"]],[506075,"Non-functioning neuroendocrine tumor of pancreas",["Non-functioning PNET","Non-functioning pancreatic NET","Non-functioning pancreatic neuroendocrine tumor","Non-functioning well-differentiated NEN of pancreas","Non-functioning well-differentiated neuroendocrine neoplasm of pancreas","Non-functioning well-differentiated pancreatic NEN","Non-functioning well-differentiated pancreatic neuroendocrine neoplasm"]],[506090,"Serotonin-producing neuroendocrine tumor of pancreas",["Serotonin-producing PNET","Serotonin-producing pancreatic NET","Serotonin-producing pancreatic neuroendocrine tumor"]],[506098,"Neuroendocrine carcinoma of pancreas",["Pancreatic NEC","Pancreatic neuroendocrine carcinoma","Poorly-differentiated NEN of pancreas","Poorly-differentiated neuroendocrine neoplasm of pancreas","Poorly-differentiated pancreatic NEN","Poorly-differentiated pancreatic neuroendocrine neoplasm"]],[506112,"Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas",["MiNEN of pancreas","Pancreatic MiNEN","Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm"]],[506124,"OBSOLETE: Neuroendocrine tumor of small intestine",["OBSOLETE: NET of small intestine"]],[506136,"Neuroendocrine neoplasm of esophagus",["Esophageal NEN","Esophageal neuroendocrine neoplasm","NEN of esophagus"]],[506207,"Rare disorder potentially indicated for transplant"],[506210,"Rare disorder potentially indicated for liver transplant"],[506213,"Rare disorder potentially indicated for kidney transplant"],[506216,"Rare disorder potentially indicated for bowel transplant"],[506219,"Rare disorder potentially indicated for hematopoietic stem cell transplant"],[506222,"Rare disorder potentially indicated for lung transplant"],[506225,"Rare disorder potentially indicated for heart transplant"],[506307,"Stromme syndrome",["Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome","Jejunal atresia-microcephaly-ocular anomalies syndrome"]],[506334,"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency",["Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency","SPLIS","Sphingosine phosphate lyase insufficiency syndrome"]],[506353,"Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction",["Autosomal recessive complex SPG due to Kennedy pathway dysfunction","Autosomal recessive spastic paraplegia type 81"]],[506358,"Gabriele-de Vries syndrome",["YY1 haploinsufficiency syndrome"]],[506784,"Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome",["SJS/TEN overlap syndrome","Stevens-Johnson/TEN overlap syndrome","Stevens-Johnson/toxic epidermal necrolysis overlap syndrome"]],[508093,"MEPAN syndrome",["Autosomal recessive childhood-onset dystonia, DYT29 type","Childhood-onset generalized dystonia-optic atrophy syndrome","DYT29","Dystonia 29","Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome"]],[508410,"Familial intestinal malrotation"],[508476,"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome",["Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome","Hyaluronidase 2 deficiency"]],[508488,"8q24.3 microdeletion syndrome",["Del(8)(q24.3)","Deletion 8q24.3","Monosomy 8q24.3"]],[508498,"Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome",["Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene"]],[508501,"Orofaciodigital syndrome type 18",["OFD18","Oral-facial-digital syndrome type 18","Oral-facial-digital syndrome with short stature and brachymesophalangy"]],[508512,"Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"],[508523,"Hyperphenylalaninemia due to DNAJC12 deficiency",["Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia"]],[508529,"Intermediate epidermolysis bullosa simplex with cardiomyopathy",["Intermediate EBS with cardiomyopathy"]],[508533,"Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome",["EXTL3-related neuro-immuno-skeletal dysplasia syndrome","Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency"]],[508542,"Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome",["MYSM1 deficiency"]],[512017,"Chronic lymphoproliferative disorder of natural killer cells",["CLPD-NK","CNKL","Chronic NK lymphocytosis","Chronic NK-cell lymphocytosis","Chronic lymphoproliferative disorder of NK-cells","NK-cell lineage granular lymphocyte proliferative disorder"]],[512034,"Large granular lymphocyte leukemia"],[512103,"Autosomal recessive epidermolytic ichthyosis",["AREI"]],[512260,"Congenital cerebellar ataxia due to RNU12 mutation"],[513436,"Autosomal recessive spastic paraplegia type 78",["SPG78"]],[513456,"Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome",["Skraban-Deardorff syndrome"]],[514352,"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome",["Serpentine-like syndrome"]],[514980,"ATP13A2-related parkinsonism"],[519264,"Inflammatory/autoimmune disorder involving the lacrimal system"],[519266,"Rare disorder of the ocular adnexa"],[519268,"Rare disorder with ectropion"],[519270,"Rare disorder with entropion"],[519272,"Structural developmental eye defect"],[519274,"Syndromic lacrimal system disorder"],[519276,"Anterior segment developmental anomaly with extraocular manifestations"],[519278,"Infective keratitis"],[519280,"Rare conjunctivitis"],[519282,"Rare corneal disorder"],[519284,"Rare disorder of the anterior segment of the eye"],[519286,"Rare disorder of the pupil"],[519288,"Rare disorder with corneal involvement as a major feature"],[519290,"Rare inflammatory/autoimmune corneal disorder"],[519292,"Syndromic ectopia lentis"],[519294,"Syndromic microspherophakia"],[519296,"Rare disorder with pigmented sclera"],[519298,"Rare scleral disorder"],[519300,"OBSOLETE: Isolated chorioretinal dystrophy"],[519302,"OBSOLETE: Isolated macular dystrophy"],[519304,"OBSOLETE: Isolated vitreoretinopathy"],[519306,"OBSOLETE: Isolated progressive inherited retinal disorder"],[519309,"Rare choroidal disorder"],[519311,"Rare disorder of the posterior segment of the eye"],[519313,"Rare macular disorder"],[519315,"Rare retinal disorder"],[519317,"Rare retinal vasculopathy"],[519319,"OBSOLETE: Isolated stationary inherited retinal disorder"],[519321,"OBSOLETE: Syndromic chorioretinal dystrophy"],[519323,"OBSOLETE: Syndromic macular dystrophy"],[519325,"OBSOLETE: Syndromic inherited retinal disorder",["OBSOLETE: Syndromic retinal dystrophy"]],[519327,"OBSOLETE: Syndromic vitreoretinopathy"],[519329,"Rare disorder involving multiple structures of the eye"],[519331,"Secondary early-onset glaucoma"],[519333,"Congenital optic disc excavation"],[519335,"OBSOLETE: Inflammatory/autoimmune optic neuropathy"],[519337,"Disorder with optic nerve compression"],[519339,"Pseudopapilledema"],[519341,"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature"],[519343,"Rare ophthalmic disorder with cortical involvement"],[519345,"Rare disorder with optic disc malformation"],[519347,"Rare neuromuscular disorder with ocular motility/alignment anomaly"],[519349,"Rare ophthalmic disorder with cranial nerve involvement"],[519351,"Rare optic nerve disorder"],[519353,"Rare trochlear nerve disorder"],[519355,"Rare ocular motility/alignment disorder"],[519357,"OBSOLETE: Syndromic malformation of the optic disc"],[519384,"Congenital cystic eye",["Congenital anophthalmos with cyst"]],[519386,"Isolated congenital entropion"],[519388,"Autosomal recessive anterior segment dysgenesis"],[519390,"Isolated blepharochalasis"],[519392,"Isolated iridoschisis"],[519394,"OBSOLETE: Isolated microphakia"],[519396,"Isolated microspherophakia"],[519398,"Isolated foveal hypoplasia"],[519400,"Peripapillary staphyloma"],[519402,"Isolated megalopapilla"],[519404,"Optic disc pit"],[519406,"Thygeson superficial punctate keratitis",["Thygeson superficial punctate keratopathy"]],[519408,"Mooren ulcer"],[519410,"Terrien marginal degeneration"],[519930,"Fungal keratitis",["Keratomycosis","Mycotic keratitis"]],[520814,"Rare disorder of the visual organs"],[520817,"OBSOLETE: Isolated inherited retinal disorder"],[520820,"Progressive external ophthalmoplegia"],[521123,"Radiation-induced plexopathy"],[521127,"Osteoradionecrosis of the mandible",["MORN"]],[521132,"Radiation-induced disorder"],[521219,"Mirizzi syndrome",["Extrinsic biliary compression syndrome"]],[521232,"Genetic primary orthostatic disorder"],[521236,"Primary orthostatic disorder"],[521258,"Xq25 microduplication syndrome",["Dup(X)(q25)","Xq25 microtriplication"]],[521268,"Sodium-dependent multivitamin transporter deficiency"],[521305,"Proximal myopathy with focal depletion of mitochondria"],[521308,"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome"],[521390,"Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome",["SINO syndrome"]],[521399,"NON RARE IN EUROPE: Non rare obesity"],[521406,"Dystonia-parkinsonism-hypermanganesemia syndrome"],[521411,"Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect",["Autosomal recessive axonal CMT due to copper metabolism defect"]],[521414,"Autosomal dominant Charcot-Marie-Tooth disease type 2DD",["ATP1A1-related CMT2","ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2","CMT2DD"]],[521426,"PLAA-associated neurodevelopmental disorder",["PLAAND"]],[521432,"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"],[521438,"Congenital vertebral-cardiac-renal anomalies syndrome",["Congenital NAD deficiency disorder"]],[521445,"Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"],[521450,"LAMA5-related multisystemic syndrome"],[522037,"Primary autoimmune enteropathy"],[522043,"Syndromic autoimmune enteropathy"],[522077,"Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome",["BAGOS","Baker-Gordon syndrome","SYT1-related neurodevelopmental disorder"]],[522504,"Rare genetic disorder of the visual organs"],[522506,"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature"],[522508,"Rare genetic ophthalmic disorder with cortical involvement"],[522510,"Rare genetic ophthalmic disorder with cranial nerve involvement"],[522512,"Rare genetic optic nerve disorder"],[522514,"Congenital optic disc excavation of genetic origin"],[522516,"Rare genetic ocular motility/alignment disorder"],[522518,"Rare genetic disorder with strabismus"],[522520,"Syndromic genetic disorder with strabismus"],[522522,"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly"],[522524,"Rare genetic disorder of the ocular adnexa"],[522526,"Rare genetic palpebral disorder"],[522528,"Rare genetic eyelid malposition disorder"],[522530,"Rare genetic disorder with entropion"],[522532,"Rare genetic disorder of the lacrimal apparatus"],[522534,"Lacrimal drainage system anomaly of genetic origin"],[522536,"Structural developmental eye defect of genetic origin"],[522538,"Rare genetic disorder of the anterior segment of the eye"],[522540,"Anterior segment developmental anomaly of genetic origin"],[522542,"Rare genetic disorder with conjunctival involvement as a major feature"],[522544,"OBSOLETE: Rare genetic conjunctivitis"],[522546,"Rare genetic disorder with lens opacification"],[522548,"Syndromic genetic cataract"],[522550,"Lens size anomaly of genetic origin"],[522552,"Lens position anomaly of genetic origin"],[522554,"Syndromic genetic ectopia lentis"],[522556,"Rare genetic corneal disorder"],[522558,"Rare genetic disorder with corneal involvement as a major feature"],[522560,"Genetic corneal dystrophy"],[522562,"Genetic superficial corneal dystrophy"],[522564,"Syndromic genetic keratoconus"],[522566,"Rare genetic inflammatory/autoimmune corneal disorder"],[522568,"Rare genetic disorder of the pupil"],[522570,"Rare genetic disorder of the posterior segment of the eye"],[522572,"Rare genetic retinal disorder"],[522574,"Rare genetic macular disorder"],[522576,"Rare genetic retinal vasculopathy"],[522578,"Rare genetic disorder involving multiple structures of the eye"],[522580,"Secondary early-onset glaucoma of genetic origin"],[522584,"OBSOLETE: Rare genetic choroidal disorder"],[523000,"Pediatric-onset glaucoma"],[525677,"Genetic congenital malformation of the eye with glaucoma as a major feature"],[525731,"Pediatric-onset Graves disease",["Pediatric-onset Basedow disease"]],[525738,"Prepubertal anorexia nervosa"],[527276,"Encephalopathy due to mitochondrial and peroxisomal fission defect"],[527450,"Severe myopia-generalized joint laxity-short stature syndrome"],[527468,"Diaphragmatic hernia-short bowel-asplenia syndrome"],[527497,"NKX6-2-related autosomal recessive hypomyelinating leukodystrophy",["Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia","SPAX8"]],[528084,"Non-specific syndromic intellectual disability",["Complex neurodevelopmental disorder"]],[528091,"Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"],[528105,"Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome",["HELIX syndrome"]],[528623,"Hereditary angioedema with C1Inh deficiency",["HAE with C1 inhibitor deficiency","HAE with C1Inh deficiency","Hereditary angioneurotic edema with C1 inhibitor deficiency","Hereditary angioneurotic edema with C1Inh deficiency"]],[528647,"Hereditary angioedema with normal C1Inh",["HAE with normal C1 inhibitor","HAE with normal C1Inh","Hereditary angioedema with normal C1 inhibitor","Hereditary angioneurotic edema with normal C1 inhibitor","Hereditary angioneurotic edema with normal C1Inh"]],[528663,"Acquired angioedema with C1Inh deficiency",["Acquired angioneurotic edema with C1 inhibitor deficiency","Acquired angioneurotic edema with C1Inh deficiency"]],[529468,"Monoclonal mast cell activation syndrome",["Primary MCAS","Clonal MCAS","Monoclonal MCAS"]],[529574,"Duane retraction syndrome with congenital deafness",["DRS with deafness","DRS with hearing loss","DURS with deafness","DURS with hearing loss","Duane retraction syndrome with congenital hearing loss"]],[529665,"Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome",["GPAA1-related biosynthesis defect"]],[529799,"Acute bilirubin encephalopathy",["ABE","Acute kernicterus"]],[529808,"Chronic bilirubin encephalopathy",["BIND","Bilirubin-induced neurological dysfunction","CBE","KSD","Kernicterus spectrum disorder"]],[529819,"NON RARE IN EUROPE: Exfoliation syndrome",["NON RARE IN EUROPE: Pseudoexfoliation syndrome","NON RARE IN EUROPE: XFS"]],[529831,"Letrozole toxicity"],[529852,"Combined hepatocellular carcinoma and cholangiocarcinoma",["Combined HCC-CC","Combined hepatocellular-cholangiocarcinoma","Hepatocholangiocarcinoma","cHCC-CC"]],[529864,"Secondary erythromelalgia",["Secondary erythermalgia"]],[529962,"17q24.2 microdeletion syndrome",["Del(17)(q24)"]],[529965,"Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome",["Pilarowski-Bjornsson syndrome"]],[529970,"Male infertility due to acephalic spermatozoa",["Acephalic spermatozoa syndrome"]],[529974,"Immune dysregulation with inflammatory bowel disease"],[529977,"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"],[529980,"Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome",["NFAT5 haploinsufficiency"]],[530033,"Dermoid or epidermoid cyst of the central nervous system",["Dermoid or epidermoid cyst of the CNS"]],[530298,"Progressive myoclonic epilepsy with neuroserpin inclusion bodies",["Early onset familial encephalopathy with neuroserpin inclusion bodies"]],[530303,"Progressive dementia with neuroserpin inclusion bodies",["Late-onset familial encephalopathy with neuroserpin inclusion bodies"]],[530313,"PIK3CA-related overgrowth spectrum disorder",["PROS","PIK3CA-related overgrowth syndrome"]],[530792,"RELA fusion-positive ependymoma",["Supratentorial C11ORF95-RELA fused ependymoma"]],[530838,"KRT1-related diffuse nonepidermolytic keratoderma",["KRT1-related diffuse NEPPK"]],[530849,"Familial apolipoprotein A5 deficiency",["Familial APOA5 deficiency","Familial apolipoprotein A-V deficiency"]],[530983,"Lamb-Shaffer syndrome",["SOX5 haploinsufficiency syndrome"]],[530995,"Mixed phenotype acute leukemia",["MPAL"]],[531151,"9q21.13 microdeletion syndrome"],[535453,"Familial lipase maturation factor 1 deficiency",["Familial LMF1 deficiency"]],[535458,"Familial GPIHBP1 deficiency",["Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency"]],[536391,"RASopathy"],[536467,"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome",["B3GALT6-related spEDS","B3GALT6-related spondylodysplastic EDS","Beta3GalT6-deficient EDS","Ehlers-Danlos syndrome progeroid type 2","spEDS-B3GALT6"]],[536471,"Spondylodysplastic Ehlers-Danlos syndrome",["Spondylodysplastic EDS","spEDS"]],[536516,"Myopathic Ehlers-Danlos syndrome",["EDS/myopathy overlap syndrome","Myopathic EDS"]],[536532,"Classical-like Ehlers-Danlos syndrome type 2",["AEBP1-related EDS","AEBP1-related Ehlers-Danlos syndrome","Classical-like EDS type 2","clEDS type 2"]],[536545,"Kyphoscoliotic Ehlers-Danlos syndrome",["Ehlers-Danlos syndrome type 6","Kyphoscoliotic EDS","kEDS","EDS VI"]],[537072,"PLG-related hereditary angioedema with normal C1Inh",["PLG-related HAE with normal C1 inhibitor"]],[537891,"OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh",["OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor"]],[538096,"Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy"],[538101,"Congenital axonal neuropathy with encephalopathy"],[538238,"Neurological channelopathy of the central nervous system due to a genetic chloride channel defect"],[538574,"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome",["Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome"]],[538756,"Familial multiple discoid fibromas",["Familial multiple trichodiscomas"]],[538863,"Classic pyoderma gangrenosum",["Ulcerative pyoderma gangrenosum"]],[538866,"Pustular pyoderma gangrenosum"],[538869,"Bullous pyoderma gangrenosum",["Phemphigoid pyoderma gangrenosum"]],[538872,"Vegetative pyoderma gangrenosum",["Granulomatous pyoderma gangrenosum"]],[538931,"X-linked lymphoproliferative disease due to SAP deficiency",["X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency","X-linked lymphoproliferative syndrome type 1","XLP1","X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency","X-linked lymphoproliferative disease due to SH2D1A deficiency"]],[538934,"X-linked lymphoproliferative disease due to XIAP deficiency",["XIAP deficiency syndrome","XLP2","X-linked lymphoproliferative syndrome type 2"]],[538958,"EBV-induced lymphoproliferative disease due to CD70 deficiency",["Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency"]],[538963,"Combined immunodeficiency due to ITK deficiency",["Autosomal recessive lymphoproliferative disease due to ITK deficiency","ITK deficiency"]],[541423,"Growth delay-intellectual disability-hepatopathy syndrome"],[541443,"Anomalous aortic origin of the left coronary artery",["AOLCA","L-ACAOS","Left coronary artery from right aortic sinus"]],[541454,"Anomalous aortic origin of the right coronary artery",["AORCA","R-ACAOS","Right coronary artery from left aortic sinus"]],[541478,"Anomalous aortic origin of coronary artery",["AAOCA"]],[541507,"Anomalous origin of coronary artery from the pulmonary artery",["ACAPA"]],[542301,"EBV-induced lymphoproliferative disease due to CARMIL2 deficiency",["EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency"]],[542306,"GNB5-related intellectual disability-cardiac arrhythmia syndrome"],[542310,"Leukoencephalopathy with calcifications and cysts",["LCC","Labrune syndrome"]],[542323,"T-cell based immunotherapy-associated cytokine release syndrome",["T-cell based immunotherapy-associated CRS"]],[542568,"Quadricuspid aortic valve"],[542585,"Auditory neuropathy-optic atrophy syndrome"],[542592,"Necrobiosis lipoidica",["Oppenheim-Urbach disease"]],[542643,"Livedoid vasculopathy",["Livedo reticularis with summer ulcerations","Milian atrophie blanche","Segmental hyalinizing vasculitis"]],[542657,"Isolated hyperchlorhidrosis",["Carbonic anhydrase XII deficiency"]],[542822,"Anomaly of the coronary ostia"],[543470,"Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"],[544254,"SYNGAP1-related developmental and epileptic encephalopathy",["SYNGAP1-related DEE"]],[544458,"Hemolytic uremic syndrome",["HUS"]],[544469,"PRUNE1-related neurological syndrome"],[544472,"Atypical hemolytic uremic syndrome with complement gene abnormality",["Atypical HUS with complement gene abnormality","aHUS with complement gene abnormality"]],[544482,"Infection-related hemolytic uremic syndrome",["Infection-related HUS"]],[544488,"Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome",["Bachmann-Bupp syndrome","Ornithine decarboxylase deficiency"]],[544493,"Streptococcus pneumoniae-associated hemolytic uremic syndrome",["S. pneumoniae-associated HUS","SP-HUS"]],[544503,"RNF13-related severe early-onset epileptic encephalopathy",["RNF13-related severe EOEE"]],[544578,"Congenital primary megaureter, refluxing and obstructed form"],[544590,"Collagen-related glomerular basement membrane disease"],[544602,"Congenital myopathy with reduced type 2 muscle fibers",["Congenital myopathy with fast-twitch fiber atrophy","Congenital myopathy with reduced type II muscle fibers","Congenital myopathy with type 2 muscle fiber atrophy","Congenital myopathy with type II fiber atrophy"]],[544628,"Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"],[555402,"NAD(P)HX dehydratase deficiency",["CARKD deficiency"]],[555407,"NAD(P)HX epimerase deficiency",["Apolipoprotein A-I binding protein deficiency"]],[555434,"Fibrohistiocytic inflammatory pseudotumor of the liver"],[555437,"Lymphoplasmacytic inflammatory pseudotumor of the liver",["IgG4-related inflammatory pseudotumor of the liver"]],[555874,"Congenital tricuspid valve dysplasia"],[555877,"FLNA-related X-linked myxomatous valvular dysplasia",["FLNA-related valvular dystrophy","Filamin A-related X-linked myxomatous valvular dysplasia"]],[555905,"IgA pemphigus"],[556030,"Early-onset familial hypoaldosteronism",["Early-onset familial hyperreninemic hypoaldosteronism","Severe aldosterone synthase deficiency"]],[556037,"Late-onset familial hypoaldosteronism",["Late-onset familial hyperreninemic hypoaldosteronism","Mild aldosterone synthase deficiency"]],[556508,"Rare disorder due to poisoning"],[556955,"Pancreatic agenesis-holoprosencephaly syndrome"],[556985,"Early-onset calcifying leukoencephalopathy-skeletal dysplasia",["BANDDOS","Brain abnormalities-neurodegeneration-dysosteosclerosis disease"]],[557003,"Oculoskeletodental syndrome",["Oculo-skeleto-dental syndrome"]],[557056,"Spastic ataxia-dysarthria due to glutaminase deficiency"],[557064,"Neonatal epileptic encephalopathy due to glutaminase deficiency"],[557866,"Rare disorder with Hirschsprung disease as a major feature"],[558411,"Idiopathic gastroparesis"],[561854,"FOXG1 syndrome",["FOXG1-related epileptic-dyskinetic encephalopathy"]],[562509,"Heme oxygenase-1 deficiency",["HO-1 deficiency"]],[562528,"Congenital limbs-face contractures-hypotonia-developmental delay syndrome",["CLIFAHDD syndrome"]],[562538,"Autosomal recessive extra-oral halitosis",["MTO-deficiency","Methanethiol oxidase deficiency"]],[562559,"Anterior maxillary protrusion-strabismus-intellectual disability syndrome",["MRAMS syndrome"]],[562569,"TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"],[562639,"Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome",["Overlap syndromes of autoimmune liver diseases","PBC/PSC and AIH overlap syndrome"]],[563576,"Autoimmune hepatitis type 1",["AIH type 1"]],[563581,"Autoimmune hepatitis type 2",["AIH type 2"]],[563589,"Seronegative autoimmune hepatitis",["Autoantibody-negative autoimmune hepatitis","Seronegative AIH"]],[563609,"Isolated anencephaly"],[563612,"Isolated exencephaly"],[563666,"Serous cystadenoma of childhood",["Serous cystadenoma of ovary in childhood"]],[563671,"Mucinous cystadenoma of childhood",["Mucinous cystadenoma of ovary in childhood"]],[563676,"Seromucinous cystadenoma of childhood",["Seromucinous cystadenoma of ovary in childhood"]],[563684,"Furuncular myiasis due to Dermatobia hominis",["Furunculoid myiasis due to Dermatobia hominis","Furunculous myiasis due to Dermatobia hominis"]],[563687,"Furuncular myiasis due to Cordylobia anthropophaga",["Furunculoid myiasis due to Cordylobia anthropophaga","Furunculous myiasis due to Cordylobia anthropophaga"]],[563690,"Furuncular myiasis due to Cordylobia rodhaini",["Furunculoid myiasis due to Cordylobia rodhaini","Furunculous myiasis due to Cordylobia rodhaini"]],[563708,"Syndromic congenital sodium diarrhea",["Syndromic congenital tufting enteropathy"]],[563951,"Isolated congenital aglossia"],[563954,"Isolated congenital hypoglossia"],[563991,"Osteochondrosis of the tarsal bone",["Aseptic necrosis of the tarsal bone","Avascular necrosis of the tarsal bone","Kohler disease"]],[564003,"Osteochondrosis of the metatarsal bone",["Avascular necrosis of the metatarsal bone","Freiberg disease","Freiberg infraction"]],[564127,"Genetic nephrotic syndrome",["Hereditary nephrotic syndrome"]],[564178,"Primary hypomagnesemia-refractory seizures-intellectual disability syndrome"],[565612,"Primary triglyceride deposit cardiomyovasculopathy",["P-TGCV","Primary neutral lipid storage disease with severe cardiovascular involvement"]],[565624,"Combined oxidative phosphorylation defect type 39",["COXPD39","GFM2-related combined oxidative phosphorylation defect"]],[565641,"Primary desmosis coli",["Aplastic desmosis coli"]],[565779,"Rare disorder potentially indicated for transplant or complication after transplantation"],[565782,"Methotrexate toxicity"],[565788,"Infantile inflammatory bowel disease with neurological involvement"],[565837,"Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23",["LGMD type R23","Laminin subunit alpha 2-related LGMD R23","Laminin subunit alpha 2-related late-onset muscular dystrophy"]],[565858,"Craniosynostosis-microretrognathia-severe intellectual disability syndrome"],[565899,"POMGNT2-related limb-girdle muscular dystrophy R24",["POMGNT2-related LGMD R24","POMGNT2-related muscular dystrophy","LGMD type R24","Limb-girdle muscular dystrophy type R24"]],[565909,"Calpain-3-related limb-girdle muscular dystrophy D4",["LGMD type D4","LGMD1I","Limb-girdle muscular dystrophy type D4"]],[566067,"CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome",["CAIN"]],[566175,"Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome",["CD55 deficiency","CHAPLE syndrome"]],[566192,"Congenital autosomal recessive small-platelet thrombocytopenia",["CARST"]],[566231,"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha",["RTHa","Resistance to thyroid hormone alpha","Resistance to thyroid hormone due to a mutation in TRa"]],[566243,"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta",["RTHb","Resistance to thyroid hormone beta","Resistance to thyroid hormone due to a mutation in TRb"]],[566393,"Acute mast cell leukemia",["Acute MCL"]],[566396,"Chronic mast cell leukemia",["Chronic MCL"]],[566841,"Liver adenomatosis",["Hepatic adenomatosis"]],[566847,"Aprosencephaly/atelencephaly spectrum",["AP/AT spectum"]],[566852,"Atelencephaly",["Atelencephalic microcephaly"]],[566857,"Aprosencephaly"],[566862,"Left isomerism",["LAI","Left atrial isomerism"]],[566943,"Mueller-Weiss syndrome",["Brailsford disease","Mueller-Weiss osteonecrosis of the tarsal bone"]],[567502,"B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome",["BILU syndrome","Hoffman syndrome"]],[567544,"Idiopathic non-lupus full-house nephropathy",["Idiopathic non-lupus FHN"]],[567546,"Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance",["Idiopathic SSNS with secondary steroid resistance","Secondary SRNS","Secondary steroid-resistant nephrotic syndrome"]],[567548,"Idiopathic steroid-resistant nephrotic syndrome",["Idiopathic SRNS"]],[567550,"Idiopathic multidrug-resistant nephrotic syndrome"],[567552,"Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy",["Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression"]],[567554,"Systemic disease with glomerulopathy as a major feature"],[567556,"Genetic systemic disease with glomerulopathy as a major feature"],[567558,"Non-genetic systemic disease with glomerulopathy as a major feature"],[567560,"Systemic vasculitis associated with glomerulopathy"],[567562,"Disorder with multisystemic involvement and glomerulopathy"],[567564,"Nephrotic syndrome without extrarenal manifestations"],[567983,"Parenteral nutrition-associated cholestasis",["PNAC"]],[568041,"Primary lymphedema without systemic or visceral involvement"],[568044,"Primary lymphedema with systemic or visceral involvement"],[568047,"Disorder with multisystemic involvement and primary lymphedema"],[568051,"GJC2-related late-onset primary lymphedema"],[568056,"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome",["Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome","WILD syndrome"]],[568062,"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis",["Generalized lymphatic dysplasia of Fotiou","PIEZO1-related LRHF/GLD","PIEZO1-related generalized lymphatic dysplasia with systemic involvement","PIEZO1-related lymphatic-related hydrops fetalis"]],[568065,"EPHB4-related lymphatic-related hydrops fetalis",["EPHB4-related LRHF/GLD","EPHB4-related generalized lymphatic dysplasia with atrial septal defect","EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis"]],[569164,"Angiomatoid fibrous histiocytoma",["AFH"]],[569248,"Microcystic stromal tumor",["MCST"]],[569274,"Multiple mitochondrial dysfunctions syndrome type 5",["ISCA1 deficiency","MMDS5"]],[569290,"Multiple mitochondrial dysfunctions syndrome type 6",["PMPCB deficiency"]],[569816,"CELSR1-related late-onset primary lymphedema"],[569821,"Congenital primary lymphedema of Gordon",["VEGFC-related congenital primary lymphedema"]],[570371,"Bartter syndrome type 5",["Bartter syndrome type V","Transient antenatal Bartter syndrome"]],[570422,"Galactose mutarotase deficiency",["Galactosemia type IV","Type 4 galactosemia","Type IV galactosemia","GALM deficiency","GALM deficiency galactosemia","Galactose mutarotase deficiency galactosemia","Galactosemia type 4"]],[570431,"Idiopathic multicentric Castleman disease",["HHV-8-negative multicentric Castleman disease","Human herpesvirus-8-negative multicentric Castleman disease"]],[570438,"HHV-8-associated multicentric Castleman disease",["Human herpesvirus-8-associated multicentric Castleman disease"]],[570470,"Ricin poisoning"],[570491,"QRSL1-related combined oxidative phosphorylation defect",["QRSL1-related COXPD"]],[570762,"Infective endocarditis",["Infectious endocarditis"]],[572013,"Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"],[572333,"Blepharophimosis-ptosis-epicanthus inversus syndrome plus",["3q23 microdeletion syndrome","BPES plus"]],[572354,"Blepharophimosis-ptosis-epicanthus inversus syndrome type 1",["BPES type 1","Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure"]],[572361,"Blepharophimosis-ptosis-epicanthus inversus syndrome type 2",["BPES type 2","Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure"]],[572385,"Brachydactyly type B1"],[572428,"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia",["OAS1 deficiency","OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"]],[572543,"RFVT2-related riboflavin transporter deficiency",["RTD2","Riboflavin transporter deficiency 2"]],[572550,"RFVT3-related riboflavin transporter deficiency",["RTD3","Riboflavin transporter deficiency 3"]],[572761,"DONSON-related microcephaly-short stature-limb abnormalities spectrum"],[572768,"Microcephaly-micromelia syndrome",["MIMIS"]],[572773,"Microcephaly-short stature-limb abnormalities syndrome",["MISSLA"]],[572798,"WARS2-related combined oxidative phosphorylation defect",["Mitochondrial tryptophanyl-tRNA synthetase deficiency"]],[573163,"Pheochromocytoma-paraganglioma"],[573253,"Split cord malformation type II",["Diplomyelia","SCM type 2","SCM type II","Split cord malformation type 2"]],[573278,"Split cord malformation",["SCM"]],[574918,"Predisposition to severe viral infection due to IRF7 deficiency"],[574957,"Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency",["MSMD due to partial JAK1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency"]],[575553,"CARASAL",["Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"]],[576074,"Middle East respiratory syndrome",["MERS"]],[576227,"Complete atrioventricular septal defect without ventricular hypoplasia",["Balanced complete atrioventricular canal","CAVC without ventricular hypoplasia","Complete AVSD without ventricular hypoplasia","Complete atrioventricular canal defect without ventricular hypoplasia","Complete atrioventricular septal defect with balanced ventricles"]],[576232,"Partial atrioventricular septal defect with ventricular hypoplasia",["Partial atrioventricular canal defect with ventricular hypoplasia","Partial atrioventricular septal defect with ventricular imbalance","Unbalanced partial atrioventricular canal","PAVC with ventricular hypoplasia","Partial AVSD with ventricular hypoplasia"]],[576235,"Partial atrioventricular septal defect without ventricular hypoplasia",["Balanced partial atrioventricular canal","PAVC without ventricular hypoplasia","Partial AVSD without ventricular hypoplasia","Partial atrioventricular canal defect without ventricular hypoplasia","Partial atrioventricular septal defect with balanced ventricles"]],[576242,"Intermediate atrioventricular septal defect",["Intermediate AVSD","Intermediate atrioventricular canal defect","Transitional atrioventricular canal defect"]],[576278,"SATB2-associated syndrome",["SAS"]],[576283,"SATB2-associated syndrome due to a pathogenic variant",["SATB2-associated syndrome due to a point mutation"]],[576349,"NLRC4-related familial cold autoinflammatory syndrome",["FCAS4","Familial cold autoinflammatory syndrome 4","NLRC4-related familial cold urticaria"]],[576356,"Sporadic human prion disease",["Idiopathic human prion disease"]],[576360,"Acquired human prion disease",["Infectious human prion disease"]],[576370,"Variant Creutzfeldt-Jakob disease",["Variant MCJ","vCJD"]],[576379,"Iatrogenic Creutzfeldt-Jakob disease",["Iatrogenic MCJ","iCJD"]],[576742,"Genetic hemolytic uremic syndrome",["Genetic HUS"]],[580572,"Intraductal tubulopapillary neoplasm of pancreas",["ITPN"]],[580933,"Lethal brain and heart developmental defects"],[580940,"QRICH1-related intellectual disability-chondrodysplasia syndrome"],[580951,"Punctate inner choroidopathy"],[581271,"Cramp-fasciculation syndrome"],[583097,"Congenital infiltrating lipomatosis of the face",["CIL-F","Facial infused lipomatosis","Fibroadipose infiltrating lipomatosis"]],[583595,"Serine biosynthesis pathway deficiency, infantile/juvenile form"],[583602,"Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency",["Phosphoserine aminotransferase deficiency, prenatal form"]],[583607,"Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency",["3-phosphoglycerate dehydrogenase deficiency, prenatal form"]],[583612,"Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency",["3-phosphoserine phosphatase deficiency, prenatal form"]],[583856,"Isolated splenic vein thrombosis"],[583861,"Isolated mesenteric vein thrombosis"],[585867,"Acute myeloid leukemia with t(9;22)(q34.1;q11.2)",["AML with BCR-ABL1","AML with t(9;22)(q34.1;q11.2)"]],[585877,"OBSOLETE: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"],[585909,"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)",["B-ALL with t(9;22)(q34.1;q11.2)","BCR-ABL1-like B-ALL","Philadelphia chromosome-like B-ALL"]],[585918,"B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)",["B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged","B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged"]],[585929,"B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)",["B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1","B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1"]],[585936,"B-lymphoblastic leukemia/lymphoma with hyperdiploidy"],[585942,"B-lymphoblastic leukemia/lymphoma with hypodiploidy",["Hypodiploid ALL"]],[585948,"B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)",["B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH"]],[585956,"B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)",["B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1"]],[586130,"Sporadic fatal insomnia"],[589435,"Spondylometaphyseal dysplasia-corneal dystrophy syndrome",["SMD-corneal dystrophy syndrome"]],[589442,"Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome",["Liberfarb syndrome"]],[589515,"PUM1-associated developmental disability-ataxia-seizure syndrome",["PADDAS syndrome"]],[589522,"Spinocerebellar ataxia type 46",["SCA46"]],[589527,"Spinocerebellar ataxia type 45",["SCA45"]],[589534,"Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)",["MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1"]],[589542,"Myeloid/lymphoid neoplasm associated with JAK2 rearrangement",["Myeloid/lymphoid neoplasms with PCM1-JAK2"]],[589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",["GRIN2B-Related Neurodevelopmental Disorder"]],[589595,"Mixed phenotype acute leukemia with t(v;11q23.3)",["MPAL with t(v;11q23.3); KMT2A rearranged","MPAL with t(v;11q23.3); MLL rearranged"]],[589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",["RHOA-related mosaic ectodermal dysplasia"]],[589618,"Dystonia 28",["DYT28","KMT2B-related dystonia"]],[589746,"Inherited gynecological cancer-predisposing syndrome"],[589821,"Congenital-onset Steinert myotonic dystrophy",["Congenital-onset Steinert disease","Congenital-onset myotonic dystrophy type 1"]],[589824,"Childhood-onset Steinert myotonic dystrophy",["Childhood-onset Steinert disease","Childhood-onset myotonic dystrophy type 1"]],[589827,"Juvenile-onset Steinert myotonic dystrophy",["Juvenile-onset Steinert disease","Juvenile-onset myotonic dystrophy type 1"]],[589830,"Adult-onset Steinert myotonic dystrophy",["Adult-onset Steinert disease","Adult-onset myotonic dystrophy type 1"]],[589833,"Late-onset Steinert myotonic dystrophy",["Late-onset Steinert disease","Late-onset myotonic dystrophy type 1"]],[589856,"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome",["KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"]],[589905,"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome",["Chung-Jansen syndrome","DIDOD"]],[590539,"Isolated melanotic schwannoma",["Isolated melanocytic schwannoma"]],[592564,"GNAO1-related developmental delay-seizures-movement disorder spectrum",["GNAO1-related neurodevelopmental disorder","GNAO1-related spectrum"]],[592570,"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"],[592574,"Menke-Hennekam syndrome"],[592850,"Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies",["NMOSD with anti-AQP4 antibodies","Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies"]],[592856,"Neuromyelitis optica spectrum disorder with anti-MOG antibodies",["NMOSD with anti-MOG antibodies","Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies"]],[592869,"Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies",["NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies","Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies"]],[592873,"Acute transverse myelitis with anti-MOG antibodies",["Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies"]],[592885,"OBSOLETE: Isolated optic neuritis without anti-MOG antibodies",["OBSOLETE: Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies"]],[592888,"OBSOLETE: Isolated optic neuritis with anti-MOG antibodies",["OBSOLETE: Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies"]],[592894,"Acute disseminated encephalomyelitis with anti-MOG antibodies",["ADEM with anti-MOG antibodies","Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies"]],[592900,"Acute disseminated encephalomyelitis without anti-MOG antibodies",["Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies"]],[595098,"Timothy syndrome type 1",["LQT8 type 1","TS1"]],[595105,"Timothy syndrome type 2",["LQT8 type 2","TS2"]],[595109,"Atypical Timothy syndrome",["ATS","Atypical LQT8"]],[595133,"Perivascular epithelioid cell neoplasm",["PEComa","Perivascular epithelioid tumour"]],[595216,"Fibrous dysplasia/McCune-Albright syndrome",["FD/MAS spectrum","FD/MAS syndrome","Fibrous dysplasia/McCune-Albright spectrum"]],[595337,"Adrenal hypoplasia congenita",["AHC","Congenital adrenal hypoplasia","Primary adrenal hypoplasia"]],[595346,"Epidermolysis bullosa simplex without extracutaneous involvement",["EBS without extracutaneous involvement"]],[595351,"Epidermolysis bullosa simplex with extracutaneous involvement",["EBS with extracutaneous involvement"]],[595356,"Localized dystrophic epidermolysis bullosa",["Localized DEB"]],[596008,"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"],[596426,"Syndrome of reduced sensitivity to thyroid hormone"],[596448,"IgG4-related systemic disease"],[596753,"VEXAS syndrome"],[596759,"RELA haploinsufficiency-associated inflammatory disease",["RAID"]],[596937,"Portosinusoidal vascular disease",["PSVD"]],[596941,"Incomplete septal cirrhosis",["Incomplete septal fibrosis"]],[597201,"TRIM22-related inflammatory bowel disease",["TRIM22-related IBD"]],[597623,"IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"],[597733,"Oculocutaneous albinism type 8",["OCA8"]],[597738,"Luscan-Lumish syndrome",["SETD2-related overgrowth syndrome"]],[597743,"SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"],[597746,"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"],[597749,"KAT6B-related multiple congenital anomalies syndrome",["KAT6B-related disorder"]],[597874,"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"],[597887,"ALPI-related inflammatory bowel disease"],[597939,"Euthyroid dysprealbuminemic hyperthyroxinemia",["Euthyroid dystransthyretinemic hyperthyroxinemia"]],[598164,"FOXG1 syndrome due to intragenic alteration"],[598216,"Upper tract urothelial carcinoma",["Transitional cell carcinoma of the pelvis and ureter","Transitional cell carcinoma of the upper urinary tract","UTUC"]],[598363,"Multisystem inflammatory syndrome in children and adults",["MIS-C/A"]],[598603,"Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome",["FHEIG syndrome"]],[599082,"CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome",["Snijders Blok-Campeau syndrome"]],[599373,"STXBP1-related developmental and epileptic encephalopathy",["STXBP1-related encephalopathy"]],[599376,"Hypomyelination of early myelinating structures",["HEMS"]],[599418,"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"],[599480,"Acquired hemophilia A",["AHA","Acquired F8 deficiency","Acquired factor VIII deficiency"]],[599485,"Acquired hemophilia B",["AHB","Acquired F9 deficiency","Acquired factor IX deficiency"]],[599490,"Acquired factor V deficiency"],[599495,"Acquired factor VII deficiency"],[599501,"Acquired factor X deficiency",["aFX"]],[599507,"Acquired factor XI deficiency",["aFXI"]],[599513,"Acquired factor XIII deficiency",["aFXIII"]],[599519,"Factor V short isoforms-related bleeding disorder",["FV short isoforms-related bleeding disorder"]],[599579,"Factor V Amsterdam bleeding disorder",["FV Amsterdam bleeding disorder"]],[600194,"Factor V Atlanta bleeding disorder",["FV Atlanta bleeding disorder"]],[600663,"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"],[600668,"CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"],[600691,"Combined deficiency of factor VII and factor X"],[600731,"Clark-Baraitser syndrome"],[600832,"Legionella infection",["Legionellosis"]],[600952,"Non-syndromic perineal fistula",["Non-syndromic ARM with perineal fistula","Non-syndromic anorectal malformation with perineal fistula"]],[600961,"Non-syndromic rectourethral fistula",["Non-syndromic ARM with rectourethral fistula","Non-syndromic anorectal malformation with rectourethral fistula"]],[600966,"Non-syndromic rectourethral fistula, bulbar type",["Non-syndromic ARM with rectobulbar fistula","Non-syndromic ARM with rectourethral fistula, bulbar type","Non-syndromic anorectal malformation with rectobulbar fistula","Non-syndromic anorectal malformation with rectourethral fistula, bulbar type","Non-syndromic rectobulbar fistula"]],[600975,"Non-syndromic rectourethral fistula, prostatic type",["Non-syndromic ARM with rectoprostatic fistula","Non-syndromic ARM with rectourethral fistula, prostatic type","Non-syndromic anorectal malformation with rectoprostatic fistula","Non-syndromic anorectal malformation with rectourethral fistula, prostatic type","Non-syndromic rectoprostatic fistula"]],[600984,"Non-syndromic rectovesical fistula",["Non-syndromic ARM with bladder neck fistula","Non-syndromic ARM with rectovesical fistula","Non-syndromic anorectal bladder neck fistula","Non-syndromic anorectal malformation with bladder neck fistula","Non-syndromic anorectal malformation with rectovesical fistula"]],[600993,"Non-syndromic vestibular fistula",["Non-syndromic ARM with vestibular fistula","Non-syndromic anorectal malformation with vestibular fistula"]],[600998,"Non-syndromic cloacal malformation"],[601002,"Non-syndromic anorectal malformation without fistula",["Non-syndromic ARM without fistula","Non-syndromic anorectal malformation with no fistula"]],[601008,"Non-syndromic anal stenosis",["Non-syndromic ARM with anal stenosis","Non-syndromic anorectal malformation with anal stenosis"]],[601013,"Non-syndromic pouch colon",["Non-syndromic ARM with pouch colon","Non-syndromic anorectal malformation with pouch colon"]],[601018,"Non-syndromic rectal atresia",["Non-syndromic ARM with rectal atresia","Non-syndromic anorectal malformation with rectal atresia"]],[601023,"Non-syndromic rectal stenosis",["Non-syndromic ARM with rectal stenosis","Non-syndromic anorectal malformation with rectal stenosis"]],[601028,"Non-syndromic rectovaginal fistula",["Non-syndromic ARM with rectovaginal fistula","Non-syndromic anorectal malformation with rectovaginal fistula"]],[601033,"Non-syndromic H-type fistula",["Non-syndromic ARM with H-type fistula","Non-syndromic anorectal malformation with H-type fistula"]],[603448,"Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome",["CIMDAG syndrome"]],[603494,"Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome",["COMMAD syndrome"]],[603515,"Isolated female hypospadias"],[603684,"KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome",["PERCHING syndrome"]],[603689,"KLHL7-related Bohring-Opitz-like syndrome",["KLHL7-related BOS-like syndrome"]],[603694,"KLHL7-related Crisponi/cold-induced sweating-like syndrome",["KLHL7-related Crisponi-like syndrome"]],[603699,"Recessive KLHL7-related disorder"],[604680,"Symptomatic form of X-linked centronuclear myopathy in female carriers",["Symptomatic form of X-linked myotubular myopathy in female carriers","Symptomatic form of XLCNM in female carriers","Symptomatic form of XLMTM in female carriers"]],[610569,"KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome",["Alkuraya-Kucinskas syndrome"]],[610573,"CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome"],[611201,"Oculogastrointestinal-neurodevelopmental syndrome",["OGIN Syndrome"]],[611207,"Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome",["SHILCA syndrome"]],[611216,"Aplastic anemia-intellectual disability-dwarfism syndrome",["AMeD syndrome"]],[611223,"EN1-related dorsoventral syndrome",["ENDOVE syndrome","ENDOVES"]],[611237,"Parkinsonism with polyneuropathy"],[611247,"Pontocerebellar hypoplasia type 11",["PCH11","Pontocerebellar hypoplasia due to TBC1D23"]],[611256,"Pontocerebellar hypoplasia type 12",["COASY-related pontocerebellar hypoplasia","PCH12"]],[611314,"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome"],[611327,"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability",["Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism"]],[613267,"Pontocerebellar hypoplasia type 13",["PCH13"]],[613274,"Pontocerebellar hypoplasia type 14",["PCH14"]],[615938,"Spastic paraparesis-cataracts-speech delay syndrome",["Fatty acyl-CoA reductase 1 superactivity"]],[615943,"Granuloma faciale",["Facial granuloma of Lever","Granuloma of Lever"]],[615954,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome",["Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome","Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"]],[615964,"Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate",["Acute reversible leukoencephalopathy due to SLC13A3 deficiency","Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency"]],[615970,"Chronic intervillositis of unknown etiology",["CIUE"]],[615983,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"],[615986,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster",["Lethal 1p36.33 deletion syndrome"]],[616874,"Rare disorder without a determined diagnosis after full investigation",["Fully investigated rare disorder without a determined diagnosis"]],[617294,"Twin anemia-polycythemia sequence",["TAPS"]],[617297,"Twin-reversed arterial perfusion sequence",["TRAP"]],[617301,"Selective intrauterine growth restriction",["Selective fetal growth restriction","sFGR","sIUGR"]],[617304,"Amniotic fluid embolism"],[617307,"Rare disorder related to monochorionic twin pregnancy"],[617310,"Rare disorder due to unbalanced inter-twin blood transfusion"],[617313,"Rare disorder due to inadequate sharing of the placenta"],[617408,"Classic eosinophilic pustular folliculitis",["Classic EPF","Ofuji disease"]],[617440,"Painful legs and moving toes syndrome",["PLMT syndrome"]],[617449,"Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"],[617910,"Conjunctival malignant melanoma",["Conjunctival melanoma"]],[617916,"Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"],[617919,"F12-associated cold autoinflammatory syndrome",["FACAS"]],[617930,"Hemophilia B Leyden",["F9 deficiency, Leyden type","Factor IX deficiency, Leyden type"]],[618891,"Chronic neurovisceral acid sphingomyelinase deficiency",["Chronic neurovisceral ASMD","NPD-A/B","Niemann-Pick disease type A/B"]],[618899,"Acid sphingomyelinase deficiency",["ASMD"]],[619233,"Hereditary persistence of fetal hemoglobin-intellectual disability syndrome",["Dias-Logan syndrome"]],[619238,"Rare hereditary autoinflammatory disease"],[619249,"Rare hereditary connective tissue disease"],[619284,"Narcolepsy",["Narcolepsy with or without cataplexy"]],[619340,"Inherited hematologic cancer-predisposing syndrome"],[619360,"NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin"],[619363,"NOCARH syndrome",["Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome","Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome"]],[619367,"SAMD9L-associated autoinflammatory syndrome",["SAMD9L-SAAD"]],[619941,"Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency",["Congenital neutropenia-CID due to MKL1 deficiency","Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency","MKL1-related neutrophil motility defect"]],[619948,"Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency",["Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency","SOCS1-related autoinflammatory syndrome"]],[619953,"Familial hyperinflammatory lymphoproliferative immunodeficiency",["HEM1 deficiency syndrome","NCKAP1L-associated hyperinflammatory disorder"]],[619972,"CADINS disease",["CARD11-associated atopy with dominant interference of NF-kB signaling syndrome"]],[619979,"Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"],[620096,"Non-syndromic unisutural craniosynostosis",["Isolated unisutural craniosynostosis","Non-syndromic single suture synostosis"]],[620102,"Non-syndromic unicoronal craniosynostosis",["Isolated frontal plagiocephaly","Isolated unicoronal craniosynostosis","Non-syndromic anterior synostotic plagiocephaly","Non-syndromic frontoparietal craniosynostosis","Non-syndromic hemicoronal craniosynostosis","Non-syndromic unilateral coronal synostosis"]],[620113,"Non-syndromic unilambdoid craniosynostosis",["Isolated occipital plagiocephaly","Isolated unilamboid craniosynostosis","Non-syndromic posterior synostotic plagiocephaly","Non-syndromic unilateral lambdoid synostosis"]],[620139,"Non-syndromic unifrontosphenoidal craniosynostosis",["Isolated unifrontosphenoidal craniosynostosis","Isolated unilateral sphenofrontal suture synostosis","Non-syndromic unilateral frontosphenoidal suture synostosis"]],[620146,"Non-syndromic unisquamosal craniosynostosis",["Isolated unisquamosal craniosynostosis","Non-syndromic unilateral squamosal suture synostosis"]],[620152,"Non-syndromic multisutural craniosynostosis",["Isolated multisutural craniosynostosis","Non-syndromic multiple suture synostosis"]],[620158,"Non-syndromic non-specific multisutural craniosynostosis",["Isolated non-specific multisutural craniosynostosis","Non-syndromic non-specific multiple suture synostosis"]],[620178,"Non-syndromic bilambdoid craniosynostosis",["Isolated bilambdoid craniosynostosis","Isolated pachycephaly","Non-syndromic bilateral lambdoid synostosis"]],[620186,"Non-syndromic unicoronal and sagittal craniosynostosis",["Isolated unicoronal and sagittal craniosynostosis","Non-syndromic unilateral coronal and sagittal suture synostosis"]],[620192,"Non-syndromic metopic and sagittal craniosynostosis",["Isolated metopic and sagittal craniosynostosis","Non-syndromic metopic and sagittal suture synostosis"]],[620198,"Non-syndromic bicoronal and metopic craniosynostosis",["Isolated bicoronal and metopic craniosynostosis","Non-syndromic bilateral coronal and metopic suture synostosis"]],[620205,"Non-syndromic bicoronal and sagittal craniosynostosis",["Isolated bicoronal and sagittal craniosynostosis","Non-syndromic sagittal and bilateral coronal synostosis"]],[620212,"Non-syndromic pansynostosis",["Isolated pansynostosis","Non-syndromic synostosis of all cranial vault sutures"]],[620217,"Bartter syndrome type 1",["Bartter syndrome type I"]],[620220,"Bartter syndrome type 2",["Bartter syndrome type II"]],[620363,"Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"],[620368,"EGF-related primary hypomagnesemia with intellectual disability"],[620371,"Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation",["Gitelman-like kidney tubulopathy due to mtDNA mutation"]],[621758,"Fibrosis-neurodegeneration-cerebral angiomatosis syndrome",["FINCA","Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome"]],[622014,"Autoimmune encephalitis",["AE","AIE"]],[622099,"Superior mesenteric artery syndrome",["SMAS","Wilkie syndrome"]],[622720,"Genetic autoinflammatory syndrome with skin involvement"],[622914,"Rare genetic nevus"],[622925,"X-linked severe syndromic thoracic aortic aneurysm and dissection",["Meester-Loeys syndrome","X-linked severe syndromic TAAD"]],[622934,"SBDS-related severe neonatal spondylometaphyseal dysplasia",["SBDS-related severe neonatal SMD","Spondylometaphyseal dysplasia, Sedaghatian-like type"]],[623615,"Autoimmune limbic encephalitis",["ALE"]],[623626,"Paraneoplastic cerebellar degeneration",["PCD","Paraneoplastic cerebellar ataxia","Rapidely progressive cerebellar syndrome","Subacute cerebellar degeneration"]],[623638,"Immune-mediated cerebellar ataxia",["Autoimmune cerebellitis","IMCA"]],[623695,"MIR140-related spondyloepiphyseal dysplasia",["MIR140-related SED","Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses"]],[623789,"Body integrity dysphoria",["BID","BIID","Body integrity identity disorder"]],[623801,"Acute flaccid myelitis"],[624166,"Non-specific autoimmune supratentorial encephalitis with characteristic antibodies",["Non-specific supratentorial AE with characteristic antibodies"]],[624178,"Non-specific autoimmune supratentorial encephalitis without characteristic antibodies",["Non-specific supratentorial AE without characteristic antibodies"]],[624190,"Paraneoplastic isolated brainstem encephalitis",["Paraneoplastic isolated rhombencephalitis","Paraneoplastic isolated rhomboencephalitis"]],[624199,"Non-specific autoimmune brainstem encephalitis with characteristic antibodies",["Non-specific autoimmune rhombencephalitis with characteristic antibodies","Non-specific autoimmune rhomboencephalitis with characteristic antibodies"]],[624216,"Non-specific autoimmune brainstem encephalitis without characteristic antibodies",["Non-specific autoimmune rhombencephalitis without characteristic antibodies","Non-specific autoimmune rhomboencephalitis without characteristic antibodies"]],[624244,"Postinfectious cerebellitis",["ACA","APCA","Acute cerebellar ataxia","Acute postinfectious cerebellar ataxia","PIC","Para-infectious cerebellitis"]],[624259,"Non-specific autoimmune cerebellar ataxia with characteristic antibodies",["Non-specific autoimmune CA with characteristic antibodies"]],[624268,"Non-specific autoimmune cerebellar ataxia without characteristic antibodies",["Non-specific autoimmune CA without characteristic antibodies","PACA","Primary Autoimmune Cerebellar Ataxia"]],[626609,"Rare andrological tumor"],[631068,"Autosomal dominant spastic paraplegia type 80"],[631073,"Autosomal recessive spastic paraplegia type 82"],[631076,"Autosomal recessive spastic paraplegia type 83"],[631079,"Autosomal recessive spastic paraplegia type 84"],[631082,"Autosomal recessive spastic paraplegia type 85"],[631085,"Autosomal recessive spastic paraplegia type 86"],[631088,"Autosomal recessive spastic paraplegia type 87"],[631095,"Spinocerebellar ataxia type 44"],[631103,"Spinocerebellar ataxia type 48"],[631106,"Spinocerebellar ataxia type 49"],[631248,"Mitchell Syndrome"],[631251,"Cancer of unknown primary site",["CUP","Carcinoma of unknown primary","Carcinoma of unknown primary origin","Metastases without primary tumor"]],[632603,"Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"],[633004,"KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome",["Diets-Jongmans Syndrome"]],[633014,"SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"],[633021,"SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome",["Kilquist syndrome"]],[633024,"SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome",["Delpire-McNeill syndrome"]],[633028,"CPE-related Prader-Willi-like syndrome",["BDV syndrome","Blakemore-Durmaz-Vasileiou syndrome"]],[633035,"Intellectual disability-early-onset cataract-microcephaly syndrome",["Baralle-Macken syndrome"]],[633076,"Split cord malformation, composite type",["Split cord malformation type 1.5","Split cord malformation, intermediate type","Split cord malformation, mixed type"]],[633099,"PAICS deficiency",["Phosphoribosylaminoimidazole carboxylase deficiency"]],[633124,"Invasive scopulariopsis infection"],[633211,"Preaxial digit brachydactyly-webbed fingers",["Preaxial brachydactyly, PAX3 type"]],[633228,"Isolated proximal femoral focal deficiency",["CPFD","Isolated congenital proximal femoral deficiency","PFFD"]],[634461,"Mosaic neurofibromatosis type 1",["MNF1","Mosaic NF1"]],[634475,"Mosaic NF2-related schwannomatosis",["MNF2","Mosaic NF2","Mosaic neurofibromatosis type 2"]],[634492,"Mosaic schwannomatosis",["MNF3","Mosaic SWN","Mosaic neurilemmomatosis","Mosaic neurofibromatosis type 3"]],[634511,"Mosaic Legius syndrome",["Mosaic NF1-like syndrome","Mosaic neurofibromatosis 1-like syndrome"]],[634518,"Neurofibromatosis/schwannomatosis",["NF/SWN"]],[636941,"Vascular Ehlers-Danlos-polymicrogyria syndrome",["Vascular EDS with polymicrogyria"]],[636945,"Invasive candidiasis",["Disseminated candidiasis","Systemic candidiasis"]],[636950,"Glaucomatocyclitic crisis disease",["Posner-Schlossman syndrome"]],[636955,"Endemic pemphigus foliaceus",["Fogo selvagem"]],[636965,"Autosomal dominant myosin storage myopathy",["MSMA"]],[636970,"Autosomal recessive myosin storage myopathy",["MSMB"]],[637013,"SMARCA2-related blepharophimosis-intellectual disability syndrome"],[637051,"Borna virus encephalitis",["Bornavirus encephalitis"]],[637061,"Isolated optic nerve hypoplasia"],[637064,"Isolated optic nerve aplasia"],[641343,"Imprinting disorders"],[641350,"Immunotherapy induced hypophysitis"],[641353,"Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome",["HPDL-related Leigh-like encephalopathy","HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"]],[641361,"Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome",["Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome","Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome"]],[641368,"Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency",["AR-HIES due to ZNF341 deficiency","Autosomal recessive HIES due to ZNF341 deficiency","Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency"]],[641372,"B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"],[641375,"B-lymphoblastic leukemia/lymphoma with t(17;19)"],[641380,"PAPASH syndrome",["Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"]],[641385,"PASS syndrome",["Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome"]],[641390,"PsAPASH syndrome",["Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"]],[641396,"OBSOLETE: Central nervous system tuberculosis",["OBSOLETE: CNS tuberculosis"]],[641496,"Childhood-onset schizophrenia",["COS","VEOS","Very early-onset schizophrenia"]],[641613,"Endogenous Cushing syndrome",["Endogenous CS"]],[641829,"Neonatal compartment syndrome",["CVIC","Congenital Volkmann ischemic contracture syndrome","NCS","Neonatal Volkmann ischemic contracture syndrome","Syndrome de Volkmann congénital"]],[642013,"OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor",["OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor"]],[642071,"Primary pulmonary vein stenosis",["Congenital pulmonary vein stenosis","PPVS"]],[642085,"EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity",["EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3","Spondyloepimetaphyseal dysplasia with joint laxity type 3"]],[642099,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",["SEMD-JL1","SEMDJL1","Spondyloepimetaphyseal dysplasia with joint laxity type 1"]],[642671,"Familial hyperaldosteronism type IV",["FH4"]],[642675,"CHD8 overgrowth syndrome",["CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome","Chromodomain helicase DNA binding protein 8 overgrowth syndrome"]],[642691,"Fragile X-associated primary ovarian insufficiency",["FXPOI","Fragile X-associated POF","Fragile X-associated POI","Fragile X-associated premature ovarian failure","POF associated with fragile X premutation","POI associated with fragile X premutation","Premature ovarian failure associated with fragile X premutation","Primary ovarian insufficiency associated with fragile X premutation"]],[642737,"OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature"],[642747,"PUM1-related cerebellar ataxia",["Adult-onset SCA47","Adult-onset spinocerebellar ataxia type 47"]],[642763,"Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation",["H1-4-related neurodevelopmental disorder","Rahman syndrome"]],[642788,"Cushing syndrome due to cortisol-producing adrenocortical adenoma",["CS due to cortisol-producing adrenocortical adenoma"]],[642945,"Perrault syndrome type 1",["XX gonadal dysgenesis-deafness syndrome-without neurological manifestations"]],[642954,"Autosomal recessive ataxia due to PEX16 deficiency",["Mild peroxisomal disorder due to PEX16 deficiency"]],[642965,"Autosomal recessive ataxia due to PEX2 deficiency",["Mild peroxisomal disorder due to PEX2 deficiency"]],[642976,"Perrault syndrome type 2",["XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations"]],[643503,"Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome"],[643538,"Hao-Fountain syndrome due to USP7 mutation",["HAFOUS due to USP7 mutation"]],[643549,"Hao-Fountain syndrome",["HAFOUS"]],[645188,"Spinal dermal sinus",["Dermal sinus tract"]],[645193,"Dysraphism with stalk"],[645196,"Limited dorsal myeloschisis",["LDM"]],[645202,"Closed spinal dysraphism",["Closed spina bifida","Occult spina bifida","Spina bifida occulta"]],[645270,"Open spinal dysraphism with a posterior meningocele"],[645273,"Dysraphic spinal cord lipoma"],[645276,"Spinal cord lipoma"],[645279,"Fibrolipomatous filum anomaly"],[645282,"Anomaly of the filum"],[645285,"Chaotic conus spinal cord lipoma"],[645288,"Terminal extramedullary conus spinal cord lipoma"],[645291,"Transitional extramedullary conus spinal cord lipoma"],[645294,"Posterior extramedullary conus spinal cord lipoma"],[645297,"Extramedullary conus spinal cord lipoma"],[645300,"Lipomatous non-saccular limited dorsal myeloschisis",["Lipomatous flat LDM","Lipomatous flat limited dorsal myeloschisis","Lipomatous non-saccular LDM"]],[645310,"Fibroneural non-saccular limited dorsal myeloschisis",["Fibroneural flat LDM","Fibroneural flat limited dorsal myeloschisis","Fibroneural non-saccular LDM"]],[645319,"Saccular spinal dysraphism with a stalk to the dome"],[645322,"Isolated transitional filum lipoma"],[645325,"Isolated filum lipoma",["Lipoma of the filum terminale"]],[645334,"Retained medullary cord"],[645337,"Terminal myelocystocele"],[645340,"Non-terminal myelocystocele"],[645343,"Non-saccular limited dorsal myeloschisis",["Flat LDM","Non-saccular LDM"]],[645350,"Segmental arterial mediolysis"],[645354,"Saccular limited dorsal myeloschisis",["Saccular LDM"]],[645359,"Intramedullary non-dysraphic spinal cord lipoma"],[645362,"Dorsal spinal cord lipoma",["Conus sparing spinal cord lipoma"]],[645367,"Conus spinal cord lipoma"],[645378,"Myelic limited dorsal malformation",["MyeLDM"]],[645383,"True myelomeningocele",["True MMC"]],[645388,"Hemi-myelomeningocele",["Open split-cord malformation"]],[645393,"Hemi-myeloschisis",["Split cord malformation associated with myeloschisis"]],[645398,"Myeloschisis"],[645401,"True myeloschisis"],[645613,"Classical dermatomyositis"],[645617,"Amyopathic dermatomyositis",["Dermatomyositis sine myositis"]],[645626,"Adermatopathic dermatomyositis",["Dermatomyositis sine dermatitis"]],[645749,"Congenital esophageal stenosis",["CES","Congenital oesophageal stenosis"]],[645793,"Spontaneous intestinal perforation",["FIP","Focal intestinal perforation","Isolated perforation","Neonatal focal intestinal perforation","SIP"]],[645807,"OBSOLETE: Primary tuberculous lymphadenitis",["OBSOLETE: Primary tuberculous lymphadenopathy"]],[645814,"Primary pulmonary tuberculosis",["Tuberculosis of respiratory system"]],[645822,"OBSOLETE: Primary bone and joint tuberculosis",["OBSOLETE: Primary musculoskeletal tuberculosis"]],[645849,"OBSOLETE: Primary cutaneous tuberculosis",["OBSOLETE: Primary skin tuberculosis"]],[645854,"Multifocal tuberculosis"],[645859,"OBSOLETE: Primary tuberculosis of the digestive system"],[645874,"OBSOLETE: Primary genito-urinary tuberculosis",["OBSOLETE: Urogenital tuberculosis"]],[646098,"Collagen VI-related congenital muscular dystrophy",["COL6-RD"]],[646113,"Intermediate collagen VI-related muscular dystrophy",["Intermediate COL6-RD"]],[646136,"Dysplastic cortical hyperostosis, Al-Gazali type"],[646139,"Dysplastic cortical hyperostosis"],[646278,"CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome",["CDK13-related disorder"]],[647667,"Mandibuloacral dysplasia associated to MTX2",["MADaM","MDPS","Mandibuloacral dysplasia progeroid syndrome"]],[647676,"Multiple epiphyseal dysplasia type 7",["CANT1-related multiple epiphyseal dysplasia","EDM7","MED7"]],[647681,"Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome",["ERF-related syndromic craniosynostosis"]],[647758,"Adrenal Cushing syndrome",["Adrenal CS"]],[647768,"Rare adrenocortical nodular disease with Cushing syndrome as a major feature"],[647772,"Isolated primary pigmented nodular adrenocortical disease",["Isolated PPNAD","i-PPNAD"]],[647782,"Isolated micronodular adrenocortical disease",["i-MAD"]],[647788,"Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome",["DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome","DHX30-related neurodevelopmental disorder"]],[647794,"Isolated persistent urogenital sinus",["Isolated PUGS"]],[647799,"MYT1L-related developmental delay-intellectual disability-obesity syndrome",["MYT1L-associated neurodevelopmental disorder"]],[647804,"Combined immunodeficiency due to FCHO1 deficiency"],[647811,"Cardiac-urogenital syndrome",["MYRF-related cardiac urogenital syndrome"]],[647815,"Keratitis fugax hereditaria",["KFH","Keratoendotheliitis fugax hereditaria"]],[647823,"Idiopathic pregnancy-associated osteoporosis",["PLO","Pregnancy and lactation-associated osteoporosis","Pregnancy induced osteoporosis","Idiopathic premenopausal osteoporosis associated with pregnancy","Osteoporosis of pregnancy","PAO"]],[647834,"SLC40A1-related hemochromatosis"],[647916,"Conjoined twins",["Siamese twins"]],[648559,"Rare scleritis"],[648562,"Ferroportin disease"],[648569,"Non-HFE-related hemochromatosis"],[648581,"Digenic hemochromatosis"],[648665,"Infectious scleritis"],[648675,"Idiopathic scleritis"],[648681,"Immune-mediated scleritis"],[648684,"Central retinal artery occlusion",["CRAO"]],[648919,"Idiopathic catatonia",["Idiopathic catatonic syndrome","Isolated catatonia","Isolated catatonic syndrome"]],[648992,"Non-syndromic bridging bronchus"],[649010,"Non-syndromic congenital bronchial atresia",["Non-syndromic CBA"]],[649014,"Bronchial malformation"],[649017,"Rare adrenocortical nodular disease"],[649029,"Isolated left bronchial isomerism",["Left bronchial isomerism without heterotaxy"]],[649929,"Central precocious puberty in male",["CPP in boy","CPP in male","Central precocious puberty in boy"]],[650063,"Rare central precocious puberty",["Gonadotropin-dependant precocious puberty","Rare CPP"]],[650070,"Rare central precocious puberty in female",["Rare CPP in female","Rare central precocious puberty in girl"]],[650077,"Genetic central precocious puberty in female",["Genetic CPP in female","Genetic CPP in girl","Genetic central precocious puberty in girl"]],[650082,"Secondary central precocious puberty in female",["Secondary CPP in female","Secondary CPP in girl","Secondary central precocious puberty in girl"]],[650087,"Primary central precocious puberty in male",["Primary CPP in boy","Primary CPP in male","Primary central precocious puberty in boy"]],[650092,"Secondary central precocious puberty in male",["Secondary CPP in boy","Secondary CPP in male","Secondary central precocious puberty in boy"]],[650097,"Genetic central precocious puberty in male",["Genetic CPP in boy","Genetic CPP in male","Genetic central precocious puberty in boy"]],[650102,"Non-genetic central precocious puberty in male",["Non-genetic CPP in boy","Non-genetic CPP in male","Non-genetic central precocious puberty in boy"]],[650182,"Genetic central precocious puberty",["Genetic CPP"]],[650187,"Rare peripheral precocious puberty in female"],[652487,"Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome"],[652510,"Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa"],[652514,"Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation"],[652519,"Cleft palate-congenital heart defect-intellectual disability syndrome"],[652522,"Periodic fever-immunodeficiency-thrombocytopenia syndrome",["PFITS"]],[652528,"Supernumerary kidney",["Accessory kidney"]],[652532,"Adult-onset progressive leukoencephalopathy-early-onset deafness",["Adult-onset progressive leukoencephalopathy-early-onset hearing loss"]],[652650,"Nodal T-follicular helper cell lymphoma, follicular type",["Follicular T-cell Lymphoma","Follicular helper T-cell lymphoma, follicular type","Nodal T-cell lymphoma with TFH phenotype","Nodal TFH lymphoma, follicular type","nTFHL-F"]],[652658,"Monomorphic epitheliotropic intestinal T-cell lymphoma",["Enteropathy-associated T-cell lymphoma type 2","MEITL"]],[652668,"Primary superior vena cava aneurysm",["SVCA"]],[652678,"Primary inferior vena cava aneurysm"],[652681,"Idiopathic subglottic stenosis",["iSGS"]],[653434,"Autoinflammatory syndrome with acne and/or hidradenitis suppurativa"],[653698,"Lymphocytic mastitis",["Lymphocytic mastopathy","Sclerosing lymphocytic lobulitis"]],[653709,"Cone rod dystrophy-short stature syndrome"],[653712,"CHD4-related neurodevelopmental disorder",["CHD4-related neurodevelopmental syndrome","Sifrim-Hitz-Weiss syndrome"]],[653722,"Digenic Alport syndrome"],[653725,"Autosomal recessive limb-girdle muscular dystrophy, type 28",["LGMD, type 28","LGMDR28","Limb-girdle, type 28R"]],[653728,"Congenital insensitivity to pain syndrome, Marsili type",["Marsili syndrome"]],[653751,"X-linked combined immunodeficiency due to SASH3 deficiency",["X-linked CID due to SASH3 deficiency"]],[653767,"Jansen-de Vries syndrome",["Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome","JDVS"]],[653880,"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency",["Crotonase deficiency","ECHS1D"]],[656071,"Atrophic papulosis",["Degos disease","Köhlmeier-Degos disease"]],[656085,"Benign atrophic papulosis",["BAP"]],[656126,"Segmental spinal dysgenesis",["SSD"]],[656130,"PBX1-related congenital anomalies of kidney-urinary tract syndrome",["PBX1-related syndromic CAKUT"]],[656135,"Intellectual disability-cupped ears syndrome",["Snijders Blok-Fisher syndrome"]],[656273,"OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome"],[656279,"1p36.33 duplication syndrome"],[656283,"Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency",["AR CID due to complete GP130 deficiency","AR CID due to complete IL6ST deficiency","Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency","Stüve-Wiedemann syndrome type 2"]],[656300,"Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency",["AR CID due to partial GP130 deficiency","AR CID due to partial IL6ST deficiency","Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency"]],[656313,"Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency",["AD CID due to partial GP130 deficiency","AD CID due to partial IL6ST deficiency","Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency","Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency"]],[656326,"Autosomal recessive combined immunodeficiency due to IL6R deficiency",["AR CID due to IL6R deficiency","Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency"]],[656417,"Embryonal tumor with multilayered rosettes",["ETMR"]],[656912,"Autosomal dominant combined immunodeficiency due to ERBIN deficiency",["AD-CID due to ERBIN deficiency","Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency"]],[658540,"16q22 deletion syndrome"],[658549,"Idiopathic small fibers neuropathy",["Idiopathic-SFN"]],[658574,"Isolated pulmonary artery sling",["Isolated anomalous left pulmonary artery","Isolated left pulmonary artery sling","LPA","PAS"]],[658584,"Rowell syndrome"],[658590,"Eyelid sebaceous carcinoma"],[658595,"DNMT3A-related microcephalic dwarfism",["HESJAS","Heyn-Sproul-Jackson syndrome","Microcephaly-short stature-intellectual disability syndrome"]],[658602,"Transplant-related bronchiolitis obliterans",["BOS","Bronchiolitis obliterans syndrome"]],[658612,"Non-transplant-related bronchiolitis obliterans"],[658778,"COQ7-related distal hereditary motor neuropathy"],[658805,"Greig cephalopolysyndactyly-contiguous gene syndrome",["GCP-CGS"]],[658810,"Atrophoderma of Pasini and Pierini"],[658813,"Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency",["CIMAH","Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia","Methylenetetrahydrofolate dehydrogenase 1 deficiency"]],[658843,"Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome",["HADDS","Hypotonia-ataxia-delayed developmental syndrome"]],[658909,"Fasciolopsiasis"],[658913,"Paragonimiasis"],[658917,"Clonorchiasis"],[658946,"Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency",["Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency"]],[658951,"Early-onset immune dysregulation due to DOCK11 complete deficiency",["Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency"]],[659387,"PRC-2 complex-related overgrowth spectrum"],[659396,"Cohen-Gibson syndrome",["EED-related overgrowth syndrome"]],[659463,"Imagawa-Matsumoto syndrome",["SUZ12-related overgrowth syndrome"]],[659609,"Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome",["RAC3-related syndrome"]],[659626,"Single isolated optic neuritis",["Isolated single optic neuritis","SION"]],[659634,"Relapsing isolated optic neuritis",["Isolated relapsing optic neuritis","Isolated relapsing optic neuropathy","RION"]],[659642,"Rauch-Steindl syndrome",["NSD2-related syndrome"]],[659672,"Harderoporphyria"],[659681,"Erythropoietic porphyria",["EPP"]],[659694,"Hepatic porphyria"],[659698,"Hepatic cutaneous porphyria"],[659702,"Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome",["ARCN1-related syndrome"]],[659707,"Yersinia pseudotuberculosis infection",["Y. pseudotuberculosis infection"]],[659712,"Rare yersiniosis"],[659744,"Ocular surface squamous neoplasia",["OSSN"]],[659756,"Oroya fever"],[659759,"Verruga peruana",["Peruvian warts"]],[659873,"Wormian bones-micrognathia-abnormal dentition-progeroid syndrome",["LEMD2-associated nuclear envelopathy with early progeroid appearance","Marbach-Rustad progeroid syndrome"]],[659904,"Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome",["PRR12-related neuroocular syndrome"]],[659908,"Glanders",["Burkholderia mallei infection","Equinia","Malleus"]],[659975,"Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome",["Neurodevelopmental disorder with hearing loss and spastic quadriplegia","Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome","Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome"]],[660012,"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation",["NR4A2-related neurodevelopmental syndrome"]],[660017,"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome"],[660021,"Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome",["AMOTL1-related syndrome"]],[660053,"Psittacosis",["Ornithosis","Parrot disease","Parrot fever"]],[661412,"Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency"],[661526,"MBD4-related tumor predisposition syndrome"],[662169,"Phelan-McDermid syndrome due to 22q13.3 deletion",["22q13.3 deletion","Chromosome 22q13.3 deletion syndrome"]],[662172,"Phelan-McDermid syndrome due to SHANK3 mutation"],[662175,"Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome",["Nabais Sa-de Vries type 2 syndrome"]],[662179,"Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome",["Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome","Nabais Sa-de Vries type 1 syndrome"]],[662184,"Congenital muscular dystrophy-cataract-intellectual disability syndrome",["INPP5K-related syndrome"]],[662189,"Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome",["HNRNPR-related neurodevelopmental disorder"]],[662198,"Neurodevelopmental delay-intellectual disability-skeletal defects syndrome",["HNRNPH2-Related Neurodevelopmental Disorder"]],[662207,"Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome",["HNRPH1-related neurodevelopmental disorder","Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"]],[662216,"Mucopolysaccharidosis type 10",["MPS10","MSP type X","Mucopolysaccharidosis due to ARSK deficiency","Mucopolysaccharidosis type X"]],[662229,"Episodic memory defect leukoencephalopathy",["Hippocampal memory defect leukoencephalopathy","White matter hyperintensities-episodic memory defect leukoencephalopathy"]],[662234,"Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome",["Radio-Tartaglia syndrome","SPEN-related neurodevelopmental disorder"]],[662240,"Frey syndrome",["Auriculo-temporal syndrome","Auriculotemporal syndrome","Baillarger syndrome","Dupuy syndrome","Gustatory hyperhidrosis"]],[662255,"Grisel syndrome",["Atlantoaxial non-traumatic subluxation"]],[662367,"NESCAV syndrome",["Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome"]],[662376,"Isolated gastric duplication",["Isolated stomach duplication"]],[662388,"Isolated gallbladder duplication"],[662392,"Isolated colonic duplication",["Isolated duplication of the colon"]],[662405,"Isolated pyloric duplication",["Congenital isolated double pylorus","Isolated duplication cyst of the pyloric canal","Isolated duplication cyst of the pylorus"]],[662456,"Isolated small intestine duplication"],[662473,"Isolated duodenal duplication",["Isolated duplication of the duodenum"]],[662480,"Isolated jejuno-ileal duplication",["Isolated duplication of the jejunum and ileum"]],[662721,"Placenta accreta spectrum disorder",["AIP","Abnormally invasive placenta","PAI","PAS","Placenta accreta spectrum"]],[662762,"Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome",["ARPC4-related syndrome"]],[662786,"Vasa previa"],[662829,"Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome",["BCL11B-related neurodevelopmental disorder"]],[662934,"Acute megakaryoblastic leukemia in adult",["AMKL in adult","AML M7 in adult","Acute megakaryocytic leukemia in adult","Acute myeloid leukemia M7 in adult"]],[664372,"Soft and hard cleft palate",["Combined form of soft and hard cleft palate","Isolated cleft of the soft and hard palate"]],[664377,"MGP-related spondyloepiphyseal dysplasia",["MGP-related SED","Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome"]],[664401,"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation"],[664404,"6q25.1 microdeletion syndrome"],[664410,"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome",["MEF2C-related syndrome","Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language"]],[664416,"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation"],[664430,"Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome",["SLC4A10-related neurodevelopmental disorder"]],[664438,"Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome",["Liang-Wang syndrome"]],[664450,"Inherited cancer-predisposing lymphoproliferative syndrome"],[664456,"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility",["Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility"]],[664482,"Primary hemophagocytic lymphohistiocytosis without hypopigmentation",["Genetic HLH without hypopigmentation","Genetic hemophagocytic lymphohistiocytosis without hypopigmentation","Primary HLH without hypopigmentation"]],[664500,"Hermansky-Pudlak syndrome due to AP3B1 deficiency",["HPS2","Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency","Hermansky-Pudlak syndrome type 2","Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency"]],[664511,"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency",["Early-onset severe Hermansky-Pudlak syndrome with deafness","Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency","Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency","HPS10","Hermansky-Pudlak syndrome type 10"]],[664699,"EBV-induced lymphoproliferative disease due to RASGRP1 deficiency",["Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency"]],[664711,"EBV-induced lymphoproliferative disease due to PRKCD deficiency",["EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency"]],[664726,"EBV-induced lymphoproliferative disease due to CD137 deficiency",["Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency"]],[664729,"EBV-induced lymphoproliferative disease due to TET2 deficiency",["Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency"]],[664734,"EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature",["Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature"]],[664787,"Nicolau syndrome",["Embolia cutis medicamentosa","Livedo-like dermatitis"]],[664901,"Trigeminal trophic syndrome",["TTS","Trigeminal neuropathy with nasal ulceration","Trigeminal neurotrophic ulceration","Trophic ulceration of the ala nasi"]],[664912,"Neonatal renal venous thrombosis",["NRVT","Neonatal RVT"]],[664923,"Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome",["NEDMABA disorder","Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies"]],[665044,"Common arterial trunk with aortic dominance"],[665058,"Common arterial trunk with pulmonary dominance and interrupted aortic arch"],[667589,"Isolated congenital femoral bifurcation",["Isolated congenital distal femoral duplication"]],[667662,"Breast implant-associated anaplastic large cell lymphoma",["Breast implant-associated ALCL","Seroma-associated ALCL"]],[667678,"Intraoral basal cell carcinoma",["Basal cell carcinoma of the buccal mucosa","Basal cell carcinoma of the oral cavity","IOBCC intramucosal basal cell carcinoma"]],[672979,"Craniosynostosis-facial dysmorphism-brachydactyly syndrome",["TCF12-related syndromic craniosynostosis"]],[672985,"Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome",["ZIC1-related syndromic craniosynostosis"]],[673466,"Malignant vascular tumor",["Metastatic vascular neoplasm"]],[673470,"Benign vascular tumor"],[673473,"Borderline vascular tumor",["Borderline vascular neoplasm","Vascular intermediate tumors","Vascular locally aggressive tumors"]],[673525,"Intravascular papillary endothelial hyperplasia",["IPEH","Masson's haemangioma","Masson's hemangioma","Masson's tumor","Masson's vegetant intravascular hemangiendothelioma","Reactive papillary endothelial hyperplasia","Vegetant intravascular hemangioendothelioma"]],[673538,"Littoral cell hemangioma of the spleen",["LCA","Littoral cell angioma","Littoral cell haemangioma of the spleen"]],[673543,"Papillary hemangioma",["Papillary capillary haemangioma","Papillary capillary hemangioma","Papillary haemangioma"]],[673556,"Pseudomyogenic hemangioendothelioma",["Epithelioid sarcoma-like haemangioendothelioma","Fibroma-like variant of epithelioid sarcoma"]],[673568,"Eccrine angiomatous hamartoma",["EAH","Eccrine angiomatous nevus"]],[673574,"Reactive angioendotheliomatosis",["Cutaneous reactive dermatoses","RA","RAE"]],[673580,"Classic pilocytic astrocytoma",["Juvenile pilocytic astrocytoma"]],[673585,"Pilocytic astrocytoma with histological features of anaplasia",["Anaplastic pilocytic astrocytoma"]],[674499,"Proteoglycan-related bone disorder"],[674648,"Syndrome with congenital phagocyte functional defect as a major feature",["Syndrome with congenital functional defect of phagocyte as a major feature","Syndrome with constitutional functional phagocyte defect as a major feature"]],[674653,"Actinomyopathy-associated syndromic thrombocytopenia",["ACTB-AST"]],[674762,"Early-onset autoinflammatory syndrome due to A20 haploinsufficiency",["Early-onset AID due to HA20","Early-onset autoinflammatory disorder due to HA20","Early-onset autoinflammatory syndrome associated with TNFAIP3","HA20-related monogenic Behcet-like disease"]],[674896,"Non-syndromic congenital phagocyte functional defect",["Non-syndromic congenital functional defect of phagocytes","Non-syndromic constitutional functional phagocyte defect"]],[674924,"Isolated retinal racemose hemangioma",["Isolated retinal arteriovenous aneurysm 3","Isolated retinal racemose haemangioma","RRH"]],[674930,"Perifoveal exudative vascular anomalous complex",["PEVAC"]],[674935,"Torpedo Maculopathy",["Atypical macular coloboma","Congenital hypomelanotic freckle","Paramacular albinotic spot syndrome","Solitary hypopigmented nevus of the retinal pigment epithelium","TM"]],[674943,"Isolated angioid streaks"],[674947,"Diffuse unilateral subacute neuroretinitis",["DUSN","Unilateral wipe-out syndrome"]],[674953,"Multiple evanescent white dot syndrome",["MEWDS"]],[674958,"Stellate multiform amelanotic choroidopathy",["SMACH","Serous maculopathy due to aspecific choroidopathy"]],[674965,"Choroidal osteoma"],[674968,"Bilateral diffuse uveal melanocytic proliferation disease",["BDUMP","Paraneoplastic uveal melanocytic hyperplasia"]],[675216,"Spinocerebellar ataxia type 27B"],[675359,"Anastomosing hemangioma",["Anastomosing haemangioma"]],[675362,"Hobnail hemangioma",["HH","Hobnail haemangioma","THH","Targetoid hemosiderotic haemangioma","Targetoid hemosiderotic hemangioma"]],[675369,"Microvenular hemangioma",["MVH","Microvenular haemangioma"]],[675380,"Isolated segmental infantile hemangioma",["Isolated segmental infantile haemangioma","Large segmental haemangioma","Large segmental hemangioma","Segmental haemangioma of infancy","Segmental hemangioma of infancy"]],[675396,"Epithelioid hemangioma",["ALHE","Angiolymphoid hyperplasia with eosinophilia","EH","Epithelioid haemangioma"]],[675404,"May-Thurner syndrome",["Cockett syndrome","MTS"]],[675597,"Acquired elastotic hemangioma",["Acquired elastotic haemangioma"]],[675628,"TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome",["INFLTR8","Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome"]],[675767,"Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency",["SCN-developmental delay syndrome due to SRP54 deficiency","Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency"]],[675775,"Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome"],[675782,"Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN",["Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5"]],[675814,"Adenomatoid tumor of the pleura"],[675822,"Well-differentiated papillary mesothelial tumor of the pleura"],[675833,"Localized pleural mesothelioma"],[675837,"Diffused pleural mesothelioma"],[675841,"Pleural mesothelioma in situ"],[675976,"Adenomatoid tumor of the peritoneum"],[676030,"Primary benign peritoneal tumor"],[676033,"Well-differentiated papillary mesothelial tumor of the peritoneum"],[676036,"Peritoneal mesothelioma in situ"],[676039,"Combined immunodeficiency due to FOXN1 haploinsufficiency"],[676125,"X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency",["DEX","Deficiency in ELF4, X-linked","X-AIDE","X-linked autoinflammatory and immunodeficiency disease associated with ELF4","X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency"]],[684216,"Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome",["BEFAHRS","Beck-Fahrner syndrome","Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome","TET3 deficiency","TET3-related Beck-Fahrner syndrome"]],[684226,"Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome",["KMT5B haploinsufficiency neurodevelopmental disorder"]],[684232,"Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome",["Den Hoed-De Boer-Voisin syndrome"]],[684240,"Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome",["KABAMAS","Kaya-Barakat-Masson syndrome"]],[684247,"Isolated growth hormone deficiency type IV"],[684290,"Hypertrophic olivary degeneration",["HOD"]],[684305,"Neurooculocardiogenitourinary syndrome",["NOCGUS","Neuro-oculo-cardio-genito-urinary syndrome"]],[684742,"2q13 microdeletion syndrome",["del2q13 syndrome"]],[684752,"Isolated anal canal duplication",["ACD"]],[684757,"Malformation of the anal canal and the rectum"],[685004,"Primary pericardial mesothelioma",["PPM","Primary malignant pericardial mesothelioma"]],[685010,"Mesothelioma of the tunica vaginalis",["Malignant mesothelioma of the tunica vaginalis"]],[685017,"Combined immunodeficiency due to TBX1 mutation"],[685067,"Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome",["ARED14","Autosomal recesive ectodermal dysplasia 14"]],[685082,"Pediatric acute respiratory distress syndrome",["PARDS","Pediatric ARDS"]],[686447,"OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases",["OBSOLETE: IFNG-responsive severe MSMD","OBSOLETE: Interferon gamma-responsive severe mendelian susceptibility to mycobacterial diseases"]],[686462,"Non-fibrotic hypersensitivity pneumonitis"],[686465,"Fibrotic hypersensitivity pneumonitis"],[686468,"Post 5-alpha-reductase inhibitors treatment syndrome"],[686475,"Post-selective serotonin reuptake inhibitor sexual dysfunction",["PSSD","Post-SSRI sexual dysfunction"]],[686482,"BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome",["BPTF-related NEDDFL","BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"]],[686488,"RNU4-2-related autosomal dominant neurodevelopmental disorder",["ReNU syndrome"]],[686495,"MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome"],[686556,"Isolated congenital cholesteatoma of the middle ear",["CCME","CMEC","Congenital middle ear cholesteatoma"]],[686999,"Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome",["PLAAT3-related lipodystrophy syndrome"]],[687424,"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion",["10p15.3 microdeletion syndrome","Del(10)(p15.3)","Deletion 10p15.3"]],[687695,"10p13-p14 deletion syndrome",["Del(10)(p13p14)","Deletion 10p13-p14"]],[687730,"Unifocal Langerhans cell histiocytosis",["Unifocal Langerhans cell granulomatosis","Unifocal histiocytosis X"]],[687733,"Pulmonary Langerhans cell histiocytosis",["Single-system pulmonary Langerhans cell histiocytosis","Single-system pulmonary histiocytosis X","PLCH","Single-system Langerhans cell granulomatosis"]],[687738,"Single-system multifocal Langerhans cell histiocytosis",["Single-system multifocal Langerhans cell granulomatosis","Single-system multifocal histiocytosis X"]],[687741,"Multisystem Langerhans cell histiocytosis",["Multisystem Langerhans cell granulomatosis","Multisystem histiocytosis X"]],[688523,"Splenic venous malformation",["Splenic cavernous malformation","Splenic slow-flow venous malformation","Venous malformation of the spleen"]],[688543,"T-B-NK- reticular dysgenesis-like severe combined immunodeficiency",["Activated RAC2-associated severe combined immunodeficiency","Activated Rac2 defect","Non-syndromic reticular dysgenesis","T-B-NK- reticular dysgenesis-like SCID"]],[688563,"Combined immunodeficiency with normal Ig and poor specific antibody response",["CID with normal Ig and poor specific antibody response","Combined immunodeficiency with normal immunoglobulins and poor specific antibody response"]],[688571,"Combined immunodeficiency with low immunoglobulins and normal B cells",["CID with low Ig and normal B cells","Combined immunodeficiency low Ig and normal B cells"]],[688581,"Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome",["MFHIEN","Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome"]],[688594,"Combined immunodeficiency due to RELB deficiency",["CID due to RELB deficiency","Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency"]],[688642,"Turnpenny-Fry syndrome",["PCGF2-related disorder","TPFS"]],[688649,"Isolated adrenal medullary hyperplasia",["Isolated AMH"]],[688995,"Scarlet fever",["Scarlatina"]],[689001,"Isolated spontaneous cervical artery dissection",["CeAD"]],[689021,"Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome",["Anoctamin-5-related myopathy pseudometabolic phenotype"]],[689231,"IFIH1-related hereditary spastic paraplegia",["Interferon induced with helicase C domain 1-related hereditary spastic paraplegia"]],[689234,"RNASEH2B-related hereditary spastic paraplegia",["Ribonuclease H2 subunit B-related hereditary spastic paraplegia"]],[689397,"Poirier-Bienvenu neurodevelopmental syndrome"],[689401,"Acquired hypothalamic obesity"],[689408,"Shashi-Pena syndrome"],[689422,"Okur-Chung neurodevelopmental syndrome"],[689430,"Adenoid ameloblastoma",["AA"]],[689822,"Structural heart defects-renal anomalies syndrome",["SHDRA syndrome","Severe congenital heart defects-renal anomalies syndome"]],[689829,"Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome"],[692173,"Marbach-Schaaf neurodevelopmental syndrome",["Global developmental delay-hypotonia-high pain tolerance syndrome","MASNS"]],[692193,"CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome"],[692256,"Isolated anogenital granulomatosis",["AGG"]],[692271,"Cerebral proliferative angiopathy",["CPA","Diffuse nidus arteriovenous malformation","Holohemispheric giant cerebral arteriovenous malformation","Proliferative angiopathy"]],[692296,"Idiopathic triglyceride deposit cardiomyovasculopathy",["I-TGCV","Idiopathic neutral lipid storage disease with severe cardiovascular involvement"]],[692305,"Triglyceride deposit cardiomyovasculopathy",["Neutral lipid storage disease with severe cardiovascular involvement","TGCV"]],[692790,"ATP6AP1-CDG",["ATP6AP1-congenital disorder of glycosylation","ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation","CDG-hepathopathy-hypogammaglobulinemia-metabolic cutis laxa syndrome","Carbohydrate deficient glycoprotein syndrome due to ATP6AP1"]],[692812,"RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome",["Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2","RAC2-related CID"]],[693549,"Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome",["CEBALID","Craniofacial defects-dysmorphic ears-brain abnormalities-language delay-intellectual disability","MCTT","MN1 C-terminal truncation syndrome"]],[693627,"Agammaglobulinemia-skin involvement-failure to thrive syndrome",["Hypogammaglobulinemia-skin involvement-failure to thrive syndrome","Syndromic agammaglobulinemia due to ZIP7 deficiency"]],[693647,"Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome",["Syndromic agammaglobulinemia due to FNIP1 deficiency","Syndromic hypogammaglobulinemia due to FNIP1 deficiency"]],[693661,"Activated PI3K-delta syndrome 1",["PASLI-CD","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1","APDS type 1","APDS1","Activated p110delta syndrome, type 1","Activated phosphoinositide 3-kinase delta syndrome-1"]],[693681,"Activated PI3K-delta syndrome 2",["APDS type 2","APDS2","Activated p110delta syndrome, type 2","Activated phosphoinositide 3-kinase delta syndrome type 2","PASLI-R1","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2"]],[693802,"Neonatal/infantile-onset epilepsy syndrome"],[693815,"Uterine arteriovenous malformation",["Arteriovenous malformation of the uterus","UAVM","UVM","Uterine vascular malformation"]],[693826,"Pancreatic arteriovenous malformation",["Arteriovenous malformation of the pancreas"]],[693832,"Gastrointestinal tract arteriovenous malformation",["Angiodysplasia of the GI tract","GI arteriovenous malformation"]],[693839,"Renal arteriovenous malformation",["Arteriovenous malformation of the kidney","rAVM"]],[693846,"Hepatic arteriovenous malformation",["Arteriovenous malformation of the liver","Congenital hepatic arteriovenous malformation","HAVM"]],[693855,"Visceral fast-flow vascular malformation",["Arteriovenous malformation of internal organs","Visceral arteriovenous malformation"]],[693863,"Splenic arteriovenous malformation",["Arteriovenous malformation of the spleen"]],[693869,"Gallblader arteriovenous malformation",["Arteriovenous malformation of gallbladder"]],[693872,"Urinary tract arteriovenous malformation",["Arteriovenous malformation of the urinary tract"]],[693907,"RASA1-related capillary malformation-arteriovenous malformation",["CM-AVM1"]],[693912,"EPHB4-related capillary malformation-arteriovenous malformation",["CM-AVM2"]],[694228,"Congenital intrahepatic arterioportal fistula",["IAPF"]],[694304,"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome"],[694308,"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation"],[694356,"ADAR-related hereditary spastic paraplegia",["ADAR1-related hereditary spastic paraplegia","Adenosine deaminase RNA specific-related hereditary spastic paraplegia"]],[694922,"Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome",["CONDSIAS"]],[694937,"Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency"],[694946,"Alazami-Yuan syndrome",["ALYUS","Developmental delay-facial dysmorphism-hirsutism syndrome"]],[694956,"Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome"],[694963,"Inflammatory breast cancer",["IBC","ICB","Inflammatory carcinoma of the breast","Mastitis carcinomatosa"]],[695020,"Urachal carcinoma"],[695023,"Pure squamous carcinoma of the urothelial tract"],[695032,"Giant omphalocele",["Major omphalocele"]],[695038,"Small omphalocele",["Minor omphalocele"]],[695110,"MAN2B2-CDG",["Carbohydrate deficient glycoprotein syndrome due to MAN2B2","MAN2B2-congenital disorder of glycosylation","Mannosidase alpha class 2B member 2-congenital disorder of glycosylation"]],[695131,"Acinar cystic transformation of the pancreas",["Acinar cell cystadnoma","Pancreatic acinar cystic transformation"]],[695136,"Infant-type hemispheric glioma",["IHG"]],[695140,"Sickle cell-beta zero-thalassemia",["HbS-beta zero-thalassemia","HbS-beta0 thalassemia"]],[695147,"Sickle cell-beta plus-thalassemia",["HbS-beta plus-thalassemia","HbS-beta+ thalassemia"]],[695164,"Combined immunodeficiency with low B cells and hypogammaglobulinemia",["CID with low B cells and hypogammaglobulinemia"]],[695172,"Combined immunodeficiency due to dimerization defective IKAROS mutation",["CID due to IKAROS dimerization defective mutation","Combined immunodeficiency due to dimerization defective IKZF1 mutation"]],[695183,"Late-onset combined immunodeficiency due to ICOS deficiency",["Late-onset CID due to ICOS deficiency","Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency"]],[695191,"Late-onset combined immunodeficiency due to ICOSL deficiency",["Late-onset CID due to ICOSL deficiency","Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency"]],[695611,"3q27.1 microdeletion syndrome",["Del(3)(q27.1)","Monosomy 3q27.1 syndrome"]],[695631,"Primary vitreoretinal large B-cell lymphoma",["PVLR","PVR-LBCL","Primary diffuse large B-cell lymphoma of the virtreoretina"]],[695783,"EDEM3-CDG",["CDG syndrome type IIv","CDG-IIv","CDG2V","Carbohydrate deficient glycoprotein syndrome type IIv","Congenital disorder of glycosylation type 2v","Congenital disorder of glycosylation type IIv"]],[695807,"Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome",["Immunodeficiency-multi-organ inflammation-lymphoma predisposition syndrome"]],[696063,"PLIN4-related distal myopathy",["MRUPAV","Myopathy with rimmed ubiquitin-positive autophagic vacuolation"]],[696078,"Central giant cell granuloma"],[696175,"Encapsulating peritoneal sclerosis",["Abdominal cocoon syndrome","EPS","Sclerosing encapsulating peritonitis"]],[696189,"Congenital generalized lipodystrophy type 1",["BSCL type 1","Berardinelli-Seip syndrome type 1","CGL1"]],[696206,"Congenital generalized lipodystrophy type 3",["BSCL type 3","Berardinelli-Seip syndrome type 3","CGL3"]],[696242,"PPARG-associated congenital generalized lipodystrophy",["Berardinelli-Seip syndrome associated to PPARG"]],[696289,"Congenital generalized lipodystrophy type 2",["BSCL type 2","Berardinelli-Seip syndrome type 2","CGL2"]],[696830,"Female adnexal tumor of probable Wolffian origin",["FATWO"]],[696851,"Common variable immunodeficiency and related disorders",["CVID and related disorders"]],[696857,"Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations",["CVID phenotype due to germinal digenic/polygenic mutations"]],[696863,"Common variable immunodeficiency phenotype due to somatic mutations",["CVID phenotype due to somatic mutations"]],[696870,"Common variable immunodeficiency phenotype due to germinal monogenic mutation",["CVID phenotype due to germinal monogenic mutation","Monogenic CVID phenotype","Monogenic common variable immunodeficiency phenotype"]],[696874,"NFKB1-related immune dysregulation",["Nuclear factor kappa B subunit 1-related immune dysregulation"]],[696881,"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency",["CD19 deficiency","CVID phenotype due to CD19/CD81 deficiency","Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency"]],[696894,"Common variable immunodeficiency phenotype due to CD21 deficiency",["CVID phenotype due to CD21 deficiency","Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency"]],[696897,"Congenital megaprepuce",["Isolated congenital buried penis"]],[696904,"Common variable immunodeficiency phenotype due to IRF2BP2 deficiency",["CVID phenotype due to IRF2BP2 deficiency","Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency"]],[696907,"Common variable immunodeficiency phenotype due to homozygous TACI deficiency",["CVID phenotype due to homozygous TACI deficiency","Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency","Common variable immunodeficiency phenotype due to homozygous transmembrane activator and CAML interactor deficiency"]],[696925,"Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency",["Adult-onset CVID phenotype due to BAFF-receptor deficiency","Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency"]],[696931,"Common variable immunodeficiency phenotype due to TWEAK deficiency",["CVID phenotype due to TWEAK deficiency","Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis"]],[696942,"Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency",["Childhood-onset CVID phenotype due to ARHGEF1 deficiency","Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency"]],[696945,"X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency",["X-linked CVID phenotype due to SH3KBP1 deficiency","X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency"]],[697053,"Talaromycosis",["Penicilliosis","Talaromyces marneffei infection"]],[697067,"Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome",["BCAS3-related neurodevelopmental disorder","Hengel-Maroofian-Schols syndrome"]],[697091,"Emergomycosis",["Emergomyces infection"]],[697096,"Cryptosporidiosis",["Cryptosporidium infection"]],[697101,"Fontaine progeroid syndrome"],[697132,"Lymphoepithelial cyst of the pancreas",["Pancreatic lymphoepithelial cyst"]],[697160,"Infantile epileptic spasms syndrome",["IESS"]],[697356,"Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome",["FOSL2-related neurodevelopmental disorder"]],[697385,"Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency",["CID-cancer predisposing syndrome due to AIOLOS deficiency","CID-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKAROS family zinc finger 3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency"]],[697389,"Combined immunodeficiency due to HELIOS deficiency",["CID due to HELIOS deficiency","Combined immunodeficiency due to IKAROS family zinc finger 2 deficiency","Combined immunodeficiency due to IKZF2 deficiency"]],[697394,"Combined immunodeficiency due to c-REL deficiency",["CID due to c-REL deficiency","Combined immunodeficiency due to cellular homolog of v-Rel deficiency"]],[697403,"Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency",["CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency"]],[697414,"Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation",["Early-onset CID with low Ig due to dominant-negative IKAROS mutation","Early-onset CID with low Ig due to dominant-negative IKZF1 mutation"]],[697417,"Common variable immunodeficiency phenotype due to SEC61A1 deficiency",["CVID due to SEC61A1 deficiency","Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency"]],[697734,"ST3GAL3-CDG",["ST3GAL3-related carbohydrate deficient glycoprotein syndrome","ST3GAL3-related congenital disorder of glycosylation"]],[697760,"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome"],[697764,"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation"],[697986,"Congenital peritoneal encapsulation",["CPE","Peritoneal encapsulation syndrome"]],[698005,"Epilepsy with generalized tonic-clonic seizures alone",["EGTCS","Epilepsy with grand mal seizures on awakening","GTCA"]],[698012,"Fibromuscular dysplasia",["FMD"]],[698036,"Fibromuscular dysplasia of the cervical and intracranial arteries",["Cephalocervical FMD","Cerebrovascular FMD","Cerebrovascular fibromuscular dysplasia"]],[698043,"Fibromuscular dysplasia of the renal arteries",["Renal FMD","Renal artery fibromuscular dysplasia"]],[698059,"Fibromuscular dysplasia of the coronary arteries",["Epicardial coronary artery fibromuscular dysplasia"]],[698063,"Fibromuscular dysplasia of the visceral arteries",["Visceral fibromuscular dysplasia"]],[698069,"Fibromuscular dysplasia of the arteries of the extremities",["Extremity fibromuscular dysplasia","Fibromuscular dysplasia of the arteries of the limbs","Limb fibromuscular dysplasia"]],[698085,"Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome",["TMEM147-related neurodevelopmental disorder"]],[698090,"Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome",["BRPF1-related neurodevelopmental disorder"]],[698260,"Carotid web",["AFMD","Atypical FMD","Atypical fibromuscular dysplasia","CaW","Carotid diaphragm"]],[698914,"Platelet-activating anti-platelet factor 4 disorder",["Anti-PF4 disorder","Anti-platelet factor 4 disorder"]],[698945,"Autoimmune heparin-induced thrombocytopenia",["Autoimmune HIT","aHIT"]],[699021,"Spontaneous heparin-induced thrombocytopenia",["Spontaneous HIT"]],[699029,"Vaccine-induced immune thrombotic thrombocytopenia",["VITT"]],[699057,"Annular erythema of infancy"],[699068,"Fontan-associated liver disease",["FALD"]],[699578,"Combined immunodeficiency with low Ig due to BCL10 deficiency",["CID with low Ig due to BCL10 deficiency","Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency"]],[699590,"Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency"],[699593,"Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency",["CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency","CID-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency"]],[699596,"Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency",["CID-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency","CID-hypogammaglobulinemia-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to IKZF3 deficiency"]],[699599,"ICHAD syndrome",["Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome"]],[699605,"NEMO deleted exon 5 autoinflammatory syndrome",["NDAS","NEMO-NDAS","NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome","SAID due to NEMO exon 5 deletion","Systemic autoinflammatory disease due to NEMO exon 5 deletion"]],[699615,"Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency",["Severe MSMD due to complete IRF1 deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency"]],[699618,"Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency",["Severe MSMD due to complete IFNG deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency"]],[699645,"Variable age-onset epilepsy syndrome"],[699678,"Necrotizing cellulitis"],[699683,"Fibro-adipose vascular anomaly",["FAVA","Fibro-fatty vascular anomaly","Fibroadipose vascular anomaly"]],[699697,"Necrotizing fasciitis"],[699702,"Necrotizing myositis"],[699708,"CLN14 disease",["NCL14","Neuronal ceroid lipofuscinosis type 14"]],[699718,"Infantile CLN1 disease",["Infantile neuronal ceroid lipofuscinosis type 1"]],[699734,"Late infantile CLN1 disease",["Late infantile neuronal ceroid lipofuscinosis type 1"]],[699739,"Juvenile CLN1 disease",["Juvenile neuronal ceroid lipofuscinosis type 1"]],[699745,"Adult CLN1 disease",["Adult neuronal ceroid lipofuscinosis type 1","Céroïde lipofuscinose neuronale adulte type 1"]],[699751,"Infantile CLN2 disease",["Infantile neuronal ceroid lipofuscinosis type 2"]],[699761,"Late infantile CLN2 disease",["Late infantile neuronal ceroid lipofuscinosis type 2"]],[699769,"Juvenile CLN2 disease",["Juvenile neuronal ceroid lipofuscinosis type 2"]],[699780,"Juvenile CLN3 disease",["Juvenile neuronal ceroid lipofuscinosis type 3"]],[699796,"Protracted juvenile CLN3 disease",["Protacted neuronal ceroid lipofuscinosis type 3"]],[699802,"Late infantile CLN5 disease",["Late infantile neuronal ceroid lipofuscinosis type 5"]],[699807,"Juvenile CLN5 disease",["Juvenile neuronal ceroid lipofuscinosis type 5"]],[699812,"Adult CLN5 disease",["Adult neuronal ceroid lipofuscinosis type 5"]],[699822,"Sickle cell S-Lepore disease",["HbS-Lepore disease","Hemoglobin S-Lepore disease"]],[699835,"Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome",["ZBTB11-related neurodevelopmental disorder"]],[699844,"Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome",["DYNC1I2-related neurodevelopmental disorder"]],[699850,"2p25.3 microduplication syndrome",["Dup(2)(p25.3)","Trisomy 2p25.3 syndrome"]],[700085,"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant",["Sickle cell disease due to HbS and a non-HbS/non-HbC variant"]],[700090,"Sickle cell S-O Arab disease",["HbS-O Arab disease","Hemoglobin S-O Arab disease"]],[700107,"Sickle cell S-other specified hemoglobin variant",["HbS-other specified hemoglobin variant disease"]],[700111,"Homozygous hemoglobin O Arab disease",["Homozygous O Arab hemoglobinopathy"]],[700124,"Autosomal recessive hereditary chronic pancreatitis"],[700133,"Idiopathic chronic pancreatitis"],[700136,"Early-onset idiopathic chronic pancreatitis"],[700139,"Late-onset idiopathic chronic pancreatitis"],[700143,"X-linked distal myopathy"],[700154,"TARDBP-related predominantly upper-limb distal myopathy"],[700160,"ADNP-related blepharophimosis-intellectual disability syndrome"],[700163,"SMPX-related distal myopathy"],[700170,"DNAJB4-related distal myopathy"],[700188,"Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy",["Mild calf-predominant myopathy"]],[700205,"Combined immunodeficiency due to IKBKB gain-of-function mutation",["CID due to IKBKB GOF mutation","Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation"]],[700286,"Congenital high airway obstruction syndrome",["CHAOS"]],[700325,"NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome",["X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type"]],[700333,"Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency"],[700336,"Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency"],[700467,"Late infantile CLN6 disease",["Late infantile neuronal ceroid lipofuscinosis type 6"]],[700472,"Juvenile CLN6 disease",["Juvenile neuronal ceroid lipofuscinosis type 6"]],[700477,"Adult CLN6 disease",["Adult neuronal ceroid lipofuscinosis type 6"]],[700484,"Late infantile CLN8 disease",["Late infantile neuronal ceroid lipofuscinosis type 8"]],[700487,"Congenital CLN10 disease",["CNCL","Congenital neuronal ceroid lipofuscinosis type 10"]],[700492,"Late infantile CLN10 disease",["Late infantile neuronal ceroid lipofuscinosis type 10"]],[700497,"Juvenile CLN10 disease",["Juvenile neuronal ceroid lipofuscinosis type 10"]],[700508,"Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy",["Sorbitol dehydrogenase deficiency"]],[700746,"OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders",["OBSOLETE: Genetic CVID phenotype and related disorders"]],[707786,"Thalassemia"],[707789,"Unstable alpha globin chain variant disease"],[707792,"Unstable gamma globin chain variant disease"],[707937,"Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome",["DAIPT","Distal arthrogryposis with impaired proprioception and touch"]],[707944,"Peripheral fast-flow vascular malformation",["Peripheral arteriovenous malformation"]],[707983,"Early-onset autosomal recessive TTN-related distal myopathy",["Young or early adult onset recessive distal titinopathy"]],[707993,"Methemoglobinemia-related cyanosis"],[708007,"Intramuscular fast-flow vascular anomaly"],[708014,"Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome"],[708019,"Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome",["CHDE","Congenital heart defects and ectodermal dysplasia","TEBC syndrome","Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome"]],[708036,"Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth"],[708043,"Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples"],[708046,"Peripheral arteriovenous malformation",["Peripheral AVM"]],[708051,"Peripheral arteriovenous fistula",["Peripheral AVF"]],[708123,"Autosomal dominant distal nebulin myopathy"],[708126,"DNAJB6-related distal myopathy"],[708129,"Autosomal recessive ACTN2-related distal myopathy"],[708133,"Autosomal dominant ACTN2-related distal myopathy"],[708166,"Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome",["TM2D3-related neurodevelopmental disorder"]],[708171,"Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy",["WWOX-related epileptic encephalopathy"]],[708178,"Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome",["ZNF148-related neurodevelopmental disorder"]],[708203,"Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome",["SMC1A-related intellectual disability-small hands and feet-drug-resistant epilepsy syndrome"]],[708208,"Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome",["POLR2A-related neurodevelopmental disorder"]],[708651,"Phosphoribosylformylglycinamidine synthase deficiency",["PFAS deficiency"]],[708684,"Eosinophilic cystitis"],[708881,"Phenylalanine hydroxylase deficiency",["PAH deficiency"]],[708895,"Tetrahydrobiopterin-unresponsive phenylketonuria",["BH4-unresponsive PKU","BH4-unresponsive phenylketonuria","Tetrahydrobiopterin-unresponsive PKU"]],[714041,"Straatsma syndrome"],[714046,"Primary choroidal lymphoma",["PCL"]],[714070,"Incomplete congenital stationary night blindness, Schubert-Bornschein type",["Incomplete congenital stationary night blindness","iCSNB"]],[714079,"Complete congenital stationary night blindness, Schubert-Bornschein type",["Complete congenital stationary night blindness","cCSNB"]],[714090,"Congenital stationary night blindness, Schubert-Bornschein type",["CSNB Schubert-Bornstein type"]],[714096,"Congenital stationary night blindness, Riggs type",["CSNB Riggs type"]],[714101,"Acute idiopathic maculopathy",["AIM"]],[714109,"Ocular siderosis",["Siderosis bulbi"]],[714138,"Circumscribed choroidal hemangioma",["Circumscribed choroidal haemangioma"]],[714150,"Stellate non-hereditary idiopathic foveomacular retinoschisis",["SNIFR"]],[714154,"Idiopathic multifocal choroiditis",["IMFC"]],[714160,"Presumed ocular histoplasmosis syndrome",["POHS"]],[714164,"Acute posterior multifocal placoid pigment epitheliopathy",["APMPPE"]],[714385,"Global developmental delay-high pain tolerance-intellectual disability syndrome",["DEAF1-related autosomal dominant neurodevelopmental disorder","Vulto-van Silfout-de Vries syndrome"]],[714399,"Global developmental delay-dental enamel defects-ataxia syndrome",["CTBP1-related neurodevelopmental disorder"]],[714404,"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome"],[714407,"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation"],[714410,"CARD8-related inflammatory bowel disease"],[714413,"9p23p22.2 microdeletion syndrome",["Del(9)(p23)(p22.2)","Deletion 9p23p22.2","Monosomy 9p23p22.2"]],[714423,"Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome"],[714429,"Pseudo-TORCH syndrome type 3",["Pseudo-TORCH syndrome associated to STAT2 mutation","STAT2-related pseudo-TORCH syndrome","PTORCH3","Pseudo-TORCH syndrome-3"]],[714472,"Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome",["BACH2-related immunodeficiency-autoimmunity syndrome"]],[714477,"Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome"],[714481,"SCGN-related severe early-onset hereditary ulcerative colitis"],[714484,"AGR2-related infantile-onset inflammatory bowel disease"],[714487,"Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome"],[714490,"PERCC1-related congenital intractable malabsorptive diarrhea"],[714493,"Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency",["Congenital thrombocytopenia-recurrent infections syndrome due to WAS protein-interacting protein deficiency","Congenital thrombocytopenia-recurrent infections syndrome due to Wiskott-Aldrich syndrome protein-interacting protein deficiency"]],[714496,"Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome",["ARPC1B-related hypereosinophilia-congenital thrombocytopenia-colitis-vasculitis syndrome"]],[714652,"PCDH19 clustering epilepsy",["PCDH19 epilepsy","PCDH19-CE","Protocadherin 19 clustering epilepsy"]],[714692,"Congenital disseminated pyogenic granuloma",["CDPG"]],[714698,"Fast-flow vascular malformation of the thoraco-abdominal-pelvic cavity",["Arteriovenous malformation of the thoraco-abdominal-pelvic cavity"]],[714702,"Abdominal arteriovenous malformation",["Abdominal AVM","Arteriovenous malformation of the abdomen"]],[714709,"Mediastinal arteriovenous malformation",["Arteriovenous malformation of the mediastinum","Mediastinal AVM"]],[714715,"Pelvic arteriovenous malformation",["Arteriovenous malformation of the pelvis","Pelvic AVM"]],[714726,"Retroperitoneal arteriovenous malformation",["Arteriovenous malformation of the retroperitoneum","Retroperitoneal AVM"]],[714734,"Sinus pericranii"],[714737,"Diffuse capillary malformation with overgrowth",["DCMO"]],[714785,"Unifocal sporadic venous malformation",["Unifocal sporadic VM"]],[714806,"Multifocal sporadic venous malformation",["Multifocal VM"]],[714829,"Immune checkpoint inhibitor-induced myositis",["ICI-myositis"]],[715025,"Spinal fast-flow vascular malformation",["Spinal arteriovenous malformation","Spinal arteriovenous shunt"]],[715120,"Hyperpituitarism",["Pituitary hormone hypersecretion"]],[715125,"Hemoglobin E-beta-thalassemia intermedia"],[715128,"Hemoglobin E-beta-thalassemia major"],[715135,"Hemoglobin Lepore-beta-thalassemia intermedia"],[715140,"Hemoglobin Lepore-beta-thalassemia major"],[715143,"Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene"],[715147,"Low oxygen affinity hemoglobin disease"],[715154,"Low oxygen affinity alpha chain hemoglobin disease"],[715157,"Low oxygen affinity beta chain hemoglobin disease"],[715284,"Spinal cord arteriovenous malformation, nidus type",["SCAVM"]],[715292,"OBSOLETE: Brain pial arteriovenous fistula",["OBSOLETE: Cerebral pial arterioveinous fistula","OBSOLETE: PAVF","OBSOLETE: Pial AVF"]],[715302,"OBSOLETE: Spinal pial arteriovenous fistula"],[715307,"Acquired spinal dural arteriovenous fistula",["DAVF","Spinal dural AVF"]],[715318,"Intracranial dural arteriovenous fistula",["Dural AVF"]],[715326,"Spinal epidural arteriovenous malformation",["E-AVM","SEDAVF"]],[715331,"Paraspinal arteriovenous malformation"],[715334,"Unifocal peripheral venous malformation"],[715339,"Multifocal peripheral venous malformation"],[715345,"Isolated geographic pattern capillary malformation",["Isolated GCM"]],[715353,"Isolated reticulated capillary malformation",["Isolated telangiectatic capillary malformation"]],[715359,"Isolated low resistance capillary malformation",["Isolated capillary malformation with fast flow"]],[715446,"Geographic pattern capillary malformation",["GCM"]],[715453,"Reticulated capillary malformation",["Reticulate-CM","Telangiectatic capillary malformation"]],[715460,"Syndromic geographic pattern capillary malformation"],[715463,"Low resistance capillary malformation",["Capillary malformation with fast flow","Low resistance CM/CM with faster flow"]],[715466,"Syndromic low resistance capillary malformation",["Syndromic capillary malformation with fast-flow"]],[715623,"Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome",["Morimoto-Ryu-Malicdan neuromuscular syndrome"]],[715635,"Rothmund-Thomson syndrome type 4",["RTS4"]],[715640,"Rothmund-Thomson syndrome type 3",["RTS3"]],[715694,"Infant-type hemispheric glioma NTRK-altered"],[715697,"Infant-type hemispheric glioma ALK-altered"],[715701,"Infant-type hemispheric glioma ROS1-altered"],[715704,"Infant-type hemispheric glioma MET-altered"],[715721,"High-grade astrocytoma with piloid features"],[715724,"Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype"],[715744,"Fast-flow vascular malformation of the central nervous system",["Central nervous system fast-flow malformation","Fast-flow vascular malformation of the CNS"]],[715750,"Intracranial fast-flow vascular malformation",["Intracranial AVM"]],[715757,"Metameric fast-flow vascular malformation",["Metameric AVF"]],[715762,"Unifocal fast-flow vascular malformation",["Unifocal arteriovenous malformation"]],[715845,"Idiopathic acute exudative polymorphous vitelliform maculopathy",["Idiopathic AEPVM"]],[715850,"Paraneoplastic acute exudative polymorphous vitelliform maculopathy",["Paraneoplastic AEPVM"]],[715855,"Acute exudative polymorphous vitelliform maculopathy",["AEPVM"]],[715862,"Melanocytoma of the optic disc and optic nerve",["Hyperpigmented magnocellular naevus","Magnocellular naevus"]],[715923,"Intraosseous venous malformation",["Low-flow vascular malformation of the bone","IOVM"]],[715950,"Diffuse hemispheric glioma-H3 G34-mutant"],[716109,"Global developmental delay-facial dysmorphism-brachydactyly syndrome",["DDB1-related neurodevelopmental disorder","White-Kernohan syndrome"]],[716116,"Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome",["CUL3-related neurodevelopmental disorder"]],[716195,"Rare inflammatory choroidal disorder"],[716198,"Rare paraneoplastic choroidal disorder"],[716201,"Rare vascular choroidal disorder"],[716204,"Rare neoplastic choroidal disorder"],[716207,"Rare benign neoplastic choroidal disorder"],[716210,"Rare malignant neoplastic choroidal disorder"],[716213,"Rare isolated developmental choroidal disorder"],[716290,"Rare predominantly chorioretinal disorder"],[716293,"Rare non-progressive predominantly chorioretinal disorder"],[716296,"Rare isolated non-progressive predominantly chorioretinal disorder"],[716299,"Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature",["Rare syndromic non-progressive predominantly chorioretinal disorder"]],[716304,"Rare progressive predominantly chorioretinal disorder"],[716342,"Rare disorder with progressive predominantly chorioretinal disorder as a major feature",["Rare syndromic progressive predominantly chorioretinal disorder"]],[716348,"Rare isolated progressive predominantly chorioretinal disorder"],[716358,"Rare generalized retinal disorder"],[716361,"Rare progressive generalized retinal disorder"],[716364,"Rare non-progressive generalized retinal disorder"],[716367,"Rare isolated non-progressive generalized retinal disorder"],[716393,"Rare disorder with non-progressive generalized retinal disorder as a major feature",["Rare syndromic non-progressive generalized retinal disorder"]],[716405,"Rare disorder with progressive generalized retinal disorder as a major feature",["Rare syndromic progressive generalized retinal disorder","Syndromic inherited retinal dystrophy","Syndromic IRD"]],[716410,"Rare isolated progressive generalized retinal disorder"],[716413,"Rare non-progressive predominantly macular disorder"],[716416,"Rare progressive predominantly macular disorder"],[716419,"Rare isolated non-progressive predominantly macular disorder"],[716422,"Rare disorder with non-progressive predominantly macular disorder as a major feature",["Rare syndromic non-progressive predominantly macular disorder"]],[716427,"Rare disorder with progressive predominantly macular disorder as a major feature",["Rare syndromic progressive predominantly macular disorder"]],[716432,"Rare isolated progressive predominantly macular disorder"],[716435,"Rare non-progressive vitreoretinopathy"],[716438,"Rare progressive vitreoretinopathy"],[716441,"Rare isolated progressive vitreoretinopathy"],[716446,"Rare disorder with progressive vitreoretinopathy disorder as a major feature"],[716450,"Rare non-progressive retinal vasculopathy"],[716455,"Rare progressive retinal vasculopathy"],[716459,"Rare disorder with progressive retinal vasculopathy as a major feature",["Rare syndromic progressive retinal vasculopathy"]],[716466,"Rare isolated progressive retinal vasculopathy"],[716742,"Congenital myasthenic syndrome with kinetic defect",["CMS with kinetic defect","Kinetic abnormalities of the AChR"]],[716758,"Fast-channel congenital myasthenic syndrome",["FCCMS","FCS","Fast-channel syndrome"]],[716765,"Slow-channel congenital myasthenic syndrome",["SCCMS","SCS","Slow-channel syndrome"]],[716772,"Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance",["CMS with kinetic defect due to reduced ion channel conductance"]],[716816,"Congenital myasthenic syndrome with primary acetylcholine receptor deficiency",["CMS with primary AChR deficiency","CMS with primary acetylcholine receptor deficiency","Primary AChR deficiency","Primary acetylcholine receptor deficiency"]],[716825,"Congenital myasthenic syndrome due to defects in endplate development and maintenance",["Defect in endplate development and maintenance"]],[716881,"Congenital myasthenic syndrome due to a sodium channel 1.4 defect",["CMS due to a sodium channel 1.4 defect","Na channel myasthenia","Sodium channel myasthenia"]],[716889,"Congenital myasthenic syndrome due to defective axonal transport",["Myosin 9a deficiency"]],[716893,"Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine",["CMS due to defective synthesis or recycling of ACh"]],[716899,"Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis",["CMS due to defective synaptic vesicles exocytosis"]],[716903,"Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis",["Autosomal recessive CMS due to defective synaptic vesicles exocytosis"]],[716908,"Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis",["Autosomal dominant CMS due to defective synaptic vesicles exocytosis"]],[716913,"Congenital myasthenic syndrome associated with ubiquitously expressed proteins",["CMS associated with ubiquitously expressed proteins"]],[716917,"Congenital myasthenic syndrome with mitochondrial defect",["CMS with mitochondrial defect"]],[717257,"Rare genetic predominantly chorioretinal disorder"],[717260,"Rare genetic generalized retinal disorder"],[717268,"Circumscribed astrocytic glioma"],[717308,"Rare genetic non-progressive predominantly chorioretinal disorder"],[717311,"Rare genetic isolated non-progressive predominantly chorioretinal disorder"],[717314,"Rare genetic progressive predominantly chorioretinal disorder"],[717317,"Rare genetic isolated progressive predominantly chorioretinal disorder"],[717321,"Rare genetic progressive generalized retinal disorder"],[717324,"Rare genetic isolated progressive generalized retinal disorder",["Non-syndromic inherited retinal dystrophy","Non-syndromic IRD"]],[717327,"Rare genetic non-progressive predominantly macular disorder"],[717330,"Rare genetic isolated non-progressive predominantly macular disorder"],[717333,"Rare genetic progressive predominantly macular disorder"],[717336,"Rare genetic isolated progressive predominantly macular disorder"],[717339,"Rare genetic non-progressive retinal vasculopathy"],[717342,"Rare genetic progressive retinal vasculopathy"],[717345,"Rare genetic isolated progressive retinal vasculopathy"],[717348,"Rare genetic disorder with progressive retinal vasculopathy as a major feature",["Rare genetic syndromic progressive retinal vasculopathy"]],[717564,"Dural sinus malformation without arteriovenous shunt"],[717582,"Coagulation abnormality associated with a vascular anomaly"],[717585,"Kasabach-Merritt-like phenomenon"],[717588,"Localized intravascular coagulation",["LIC"]],[717593,"Disseminated intravascular coagulation associated with a vascular anomaly",["DIC"]],[717598,"Lymphatic-venous malformation",["LVM","Venolymphatic malformation"]],[717605,"Capillary-lymphatic malformation",["CLM"]],[717611,"Capillary-venous malformation",["CVM","Capillary-venulous malformation"]],[717619,"Capillary-lymphatic-venous malformation",["CLVM"]],[717638,"Aquagenic urticaria"],[717646,"Congenital midnasal stenosis",["CMNS"]],[717757,"Rare immune disease with inflammatory bowel disease"],[717784,"Partial trisomy 12q syndrome",["Partial duplication of chromosome 12q","Partial duplication of the long arm of chromosome 12","Partial trisomy of chromosome 12q","Partial trisomy of the long arm of chromosome 12"]],[717795,"Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome",["ELP2-related neurodevelopmental disorder"]],[717812,"12q24.31 microdeletion syndrome",["Del(12)(q24.31)","Deletion 12q24.31","Monosomy 12q24.31"]],[717823,"Global developmental delay-recurrent infections-facial dysmorphism syndrome",["ANKRD17-related neurodevelopmental disorder","Chopra-Amiel-Gordon syndrome"]],[717830,"2p14p15 microdeletion syndrome",["Del(2)(p14)(p15)","Deletion 2p14p15","Monosomy 2p14p15"]],[717841,"Global developmental delay-facial dysmorphism-atrial septal defect syndrome",["Neurodevelopmental disorder due to KDM2B-CxxC domain mutation"]],[717846,"Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome",["TFE3-related neurodevelopmental disorder"]],[717851,"Rare non-syndromic inflammatory bowel disease"],[717854,"Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome",["TEBIVANED syndrome","Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome"]],[717862,"Rare disorder with inflammatory bowel disease"],[717865,"Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease"],[717868,"Rare skin disease with inflammatory bowel disease"],[717871,"Rare systemic or rheumatologic disease with inflammatory bowel disease"],[717874,"Rare inborn error of metabolism with inflammatory bowel disease"],[717877,"Rare miscellaneous disease with inflammatory bowel disease"],[717884,"Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome",["PAK1-related neurodevelopmental disorder"]],[718017,"Combined immunodeficiency due to COPG1 deficiency",["CID due to COPG1 deficiency","Combined immunodeficiency due to coat complex subunit gamma 1 deficiency"]],[718037,"Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency",["MPD with CID due to PRIM1 deficiency","Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to primase polypeptide 1 deficiency"]],[718047,"Combined immunodeficiency due to polymerase delta deficiency",["CID due to polymerase delta deficiency"]],[718053,"Combined immunodeficiency with low CD4 and normal CD8",["CID with low CD4 and normal CD8"]],[718072,"Combined immunodeficiency with low CD8 and normal CD4",["CID with low CD8 and normal CD4"]],[718079,"Combined immunodeficiency with normal B cells and normal immunoglubulins",["CID with normal B cells and normal Ig"]],[718255,"Y-linked non-syndromic genetic deafness",["Non-syndromic genetic DFNY","Y-linked isolated neurosensory deafness","Y-linked isolated neurosensory hearing loss","Y-linked isolated sensorineural deafness","Y-linked isolated sensorineural hearing loss","Y-linked non-syndromic genetic hearing loss","Y-linked non-syndromic neurosensory deafness","Y-linked non-syndromic neurosensory hearing loss","Y-linked non-syndromic sensorineural deafness","Y-linked non-syndromic sensorineural hearing loss"]],[719766,"Photic retinopathy"],[719880,"Congenital myasthenic syndrome due to acetylcholine receptor clustering defect",["CMS due to acetylcholine receptor clustering defect"]],[719914,"Congenital myasthenic syndrome due to defective nuclear membrane protein",["CMS due to defective nuclear membrane protein"]],[719921,"Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction",["CMS due to defective structural molecule at the neuromuscular junction"]],[719931,"Angiokeratoma circumscriptum",["AKC","Angiokeratoma circumscriptum neviforme"]],[719936,"Angiokeratoma of Mibelli"],[719939,"Central conducting lymphatic anomaly",["CCLA"]],[719950,"Complex lymphatic anomaly"],[719955,"Multifocal fast-flow vascular malformation",["Multifocal arteriovenous vascular malformation"]],[720014,"Neonatal/infantile-onset brain arteriovenous fistula"],[720017,"Late-onset brain arteriovenous fistula"],[720023,"Neonatal/infantile-onset spinal arteriovenous fistula"],[720027,"Late-onset spinal arteriovenous fistula"],[720280,"T-B+NK+ severe combined immunodeficiency",["T-B+NK+ SCID"]],[720287,"T-B+NK- severe combined immunodeficiency"],[720294,"T-B-NK- severe combined immunodeficiency",["T-B-NK- SCID"]],[720301,"T-B-NK+ severe combined immunodeficiency",["T-B-NK+ SCID"]],[720308,"T-B-NK+ severe combined immunodeficiency with microcephaly",["T-B-NK+ SCID with microcephaly"]],[720314,"T-B-NK+ severe combined immunodeficiency without microcephaly",["T-B-NK+ SCID without microcephaly"]],[720321,"Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome",["TLK2-related neurodevelopmental disorder"]],[720326,"Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome",["Al Kaissi syndrome","CDK10-related neurodevelopmental disorder"]],[720341,"Otofaciocervical syndrome without thymic hypoplasia",["Fara-Chlupackova syndrome type 1","OFC syndrome type 1","OTFCS1","Otofaciocervical syndrome without hypoplasia of the thymus","Otofaciocervical syndrome type 1"]],[720357,"Otofaciocervical syndrome with thymic hypoplasia",["Fara-Chlupackova syndrome type 2","OFC syndrome type 2","OTFCS2","Otofaciocervical syndrome type 2","Otofaciocervical syndrome without hypoplasia of the thymus"]],[720371,"T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency"],[723094,"Galactose-1-phosphate uridylyltransferase deficiency",["GALT deficiency","GALT deficiency galactosemia","Galactose-1-phosphate uridylyltransferase deficiency galactosemia","Galactosemia type 1","Galactosemia type I","Type 1 galactosemia","Type I galactosemia"]],[723101,"Clinical variant galactosemia"],[723106,"Biochemical variant galactosemia",["Duarte D2 variant","Duarte galactosemia","Duarte variant galactosemia"]],[723139,"Multifocal ectopic Purkinje-related premature contraction",["MEPPC"]],[723146,"Hyper-IgM syndrome due to INO80 deficiency",["HIGM due to INO80 deficiency","Hyper-IgM syndrome due to INO80 complex ATPase subunit deficiency"]],[723156,"Fetal acetylcholine receptor antibody-related disorder",["FARAD"]],[723161,"Combined immunodeficiency due to NFATC1 deficiency",["CID due to NFATC1 deficiency","Combined immunodeficiency due to nuclear factor of activated T-cells 1 deficiency"]],[723195,"Iris melanoma",["Melanoma of iris"]],[723203,"Choroidal and ciliary body melanoma",["Melanoma of choroid and cilliary body"]],[723218,"SITRAME Syndrome",["Systemic inflammatory trunk recurrent acute macular eruption syndrome"]],[723223,"Extrapulmonary non-tuberculous mycobacterial infection",["Atypical mycobacterial infection, extrapulmonary","Non-tuberculous mycobacterial extrapulmonary disease"]],[723256,"Rare vascular malformation"],[723261,"Syndromic venous malformation"],[723264,"Syndromic port-wine capillary malformation"],[723267,"Rare isolated port-wine capillary malformation"],[723270,"Isolated glomeruloid hemangioma",["Solitary glomeruloid hemangioma"]],[723286,"Cutaneous epithelioid angiomatous nodule",["CEAN"]],[723290,"Pregnancy-associated spontaneous coronary artery dissection",["P-SCAD","PASCAD"]],[723342,"Flow limitation in the iliac artery",["FLIA"]],[723358,"Diffuse midline glioma, H3 K27-altered"],[723416,"Genetic arthrogryposis syndrome"],[723427,"Syndromic fast-flow vascular malformation",["Syndromic arteriovenous vascular malformation"]],[723432,"Central nervous system venous vascular malformation",["CNS venous vascular malformation","Central nervous system slow-flow, venous type vascular malformation"]],[723518,"Isolated combined vascular malformation"],[724143,"Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome",["WIPI2-related neuordevelopmental disorder"]],[724148,"Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome",["El-Hattab-Alkuraya Syndrome","WDR45B-related neuordevelopmental disorder"]],[725898,"Bone marrow failure-diabetes mellitus syndrome",["BMFDMS","BMF disorder due to DUT deficiency","Bone marrow failure disorder due to DUT deficiency"]],[725964,"Appendiceal mucinous neoplasm",["AMN","Mucinious neoplasm of the appendix"]],[725984,"Low-grade appendiceal mucinous neoplasm",["LAMN","Low-grade mucinous neoplasm of the appendix"]],[725992,"High-grade appendiceal mucinous neoplasm",["HAMN","High-grade mucinous neoplasm of the appendix"]],[726004,"Astrocytoma grade 4"],[726036,"Red cell aplasia-microcephaly-seizure-developmental delay syndrome",["BMFS due to TP53 gain-of-function variant","RCA-microcephaly-seizure-developmental delay syndrome","Germline p53 activation syndrome","BMFS5"]],[726047,"Congenital amegakaryocytic thrombocytopenia-MPL",["CAMT-MPL","Congenital amegakaryocytic thrombocytopenia due to MPL","Congenital amegakaryocytic thrombocytopenia-MPL protooncogene, thrombopoietin receptor"]],[726050,"Congenital amegakaryocytic thrombocytopenia-THPO",["CAMT-THPO","Congenital amegakaryocytic thrombocytopenia due to THPO deficiency","Congenital amegakaryocytic thrombocytopenia due to thrombopoietin deficiency"]],[726053,"Congenital amegakaryocytic thrombocytopenia without known causal genetic defect",["CAMT without known causal genetic defect"]],[726442,"Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections",["CID with hypo/agammaglobulinemia and opportunistic infections","CID due to IRF4 multimorphic variant","Multimorphic IRF4 CID"]],[726452,"Combined immunodeficiency with early gray hairing",["Primary antibody deficiency/CID due to IRF4 neomorphic mutation","CID with early gray hairing"]],[726479,"Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency",["Genetic susceptibility to Tropheryma whipplei infections due to IRF4 haploinsufficiency","Genetic predisposition to Whipple disease due to Interferon regulatory factor 4 haploinsufficiency"]],[726644,"Houge-Janssens syndrome",["HJS","PP2A-related neurodevelopmental disorder"]],[726659,"Houge-Janssens syndrome type 3",["PPP2CA-related neurodevelopmental disorder","PPP2CA-related Houge-Janssens syndrome","HJS3"]],[726667,"Houge-Janssens syndrome type 4",["PPP2R5C-related neurodevelopmental disorder","PPP2R5C-related Houge-Janssens syndrome","HJS4"]],[726677,"Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome",["MED27-related neurodevelopmental disorder"]],[726684,"Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome",["KAT5-related neurodevelopmental disorder"]],[726695,"Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome",["HECW2-related neurodevelopmental disorder"]],[726700,"Chitayat syndrome",["ERF-related Chitayat syndrome"]],[726703,"Polydactyly-macrocephaly syndrome",["MAX-related polydactyly-macrocephaly syndrome"]],[726782,"Intellectual disability-myopathy-white matter abnormality syndrome",["ABCC9-related Intellectual disability-myopathy syndrome","AIMS"]],[726788,"Calcium release deficiency syndrome",["CRDS"]],[726793,"Venezuelan equine encephalitis",["VEE"]],[726799,"TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome",["TSHZ3-related CAKUT-intellectual disability syndrome"]],[726807,"PTEN hamartoma of soft tissue",["PHOST"]],[726812,"Self limited focal childhood epilepsy",["SFEC"]],[726824,"Hepatorenocardiac degenerative fibrosis",["HRCDF"]],[726832,"Radiation-induced Moyamoya syndrome",["RIMMS"]],[726837,"Hematohidrosis",["Hematidrosis","Haematidrosis","Hemidrosis"]],[726843,"Sweat glands anomaly",["Sudoriparous glands anomaly"]],[727126,"Isolated congenital long QT syndrome without known causative genetic defect",["Isolated congenital LQTS without known causative genetic defect"]],[727141,"KCNQ1-related isolated congenital long QT syndrome",["LQTS type 1","KCNQ1-related Isolated congenital LQTS"]],[727149,"KCNH2-related isolated congenital long QT syndrome",["KCNH2-related isolated congenital LQTS","LQTS type 2"]],[727156,"CACNA1C-related isolated congenital Long QT syndrome",["CACNA1C-related isolated congenital LQTS","LQTS type 8"]],[727163,"TRDN-related isolated congenital long QT syndrome",["TRDN-related isolated congenital LQTS"]],[727178,"KCNE2-related isolated congenital long QT syndrome",["KCNE2-related Isolated congenital LQTS","LQTS type 6"]],[727185,"KCNE1-related isolated congenital long QT syndrome",["LQTS type 5","KCNE1-related Isolated congenital LQTS"]],[727192,"Calmodulin-related isolated congenital long QT syndrome",["Calmodulin-related isolated congenital LQTS"]],[727203,"SCN5A-related isolated congenital long QT syndrome",["LQTS type 3","SCN5A-related isolated congenital LQTS"]],[727296,"Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome",["CIAO1-related myopathy"]],[727394,"Autosomal recessive KLF1-related severe anemia",["Congenital dyserythropoietic anemia type IVb","Congenital dyserythropoietic anemia type 4b","CDA type IVb","CDA type 4b"]],[727620,"16p13.11p11.2 triplication/16p11.2 duplication syndrome",["Tetrasomy 16p13.11p11.2/trisomy 16p11.2 syndrome","Trip(16)(p13.11p11.2)/Dup(16)p(11.2) syndrome"]],[727651,"Loin pain-hematuria syndrome",["LPHS"]],[727719,"Monoamine oxidase A and monoamine oxidase B deficiency",["Monoamine oxidase A and monoamine oxidase B deletion syndrome","MAOA/B deletion syndrome","MAOA/B deficiency"]],[727803,"Isolated global cerebellar hypoplasia",["Isolated generalized cerebellar hypoplasia"]],[727820,"Brainstem disconnection syndrome"],[727861,"YARS1-related multisystemic disease"],[727881,"Medullary tegmental cap dysplasia",["MTCD"]],[727915,"APOB-related familial hypobetalipoproteinemia",["APOB-FHBL","Homozygous familial hypobetalipoproteinemia","Apolipoprotein B deficiency"]],[727925,"Familial combined hypolipidemia",["Angiopoietin-like 3 deficiency"]],[727932,"Hypocholesterolemia due to PCSK9 deficiency",["Hypocholesterolemia without low LDL cholesterol"]],[728432,"PLA2G6-related neurodegeneration, juvenile-onset",["PLA2G6-associated neurodegeneration, juvenile-onset","Juvenile PLAN","Atypical neuroaxonal dystrophy","ANAD","Juvenile phospholipase A2-associated neurodegeneration"]],[728467,"Congenital macrothrombocytopenia with focal myelofibrosis",["Early-onset autosomal recessive thrombocytopenia-anemia-myelofibrosis","Congenital myelofibrosis with macrothrombocytopenia and focal myelofibrosis","cMTFM","THAMY"]],[728475,"Inherited bone marrow failure disorder with immune defect",["Inheirted BMF disorder with immune defect","Inherited BMFD with immune defect"]],[728514,"Pontocerebellar hypoplasia type 16",["MINPP1-related pontocerebellar hypoplasia","PCH16"]],[728521,"Pontocerebellar hypoplasia type 17",["PCH17","PRDM13-related pontocerebellar hypoplasia"]],[728528,"Pontocerebellar hypoplasia and related disorders"],[728584,"PIK3CA-related overgrowth spectrum disorder with vascular malformation"],[728619,"Early repolarization syndrome",["Haïssaguerre syndrome","ERS"]],[728633,"Idiopathic orbital inflammation syndrome",["Orbital pseudotumor","Orbital inflammatory pseudotumor","OIP","IOI syndrome","Syndrome IOI"]],[728642,"Genetic syndrome or malformation associated with head and neck malformations"],[728656,"Bleeding diathesis due to thromboxane A2 receptor variants",["Bleeding diathesis due to TBXA2R variants"]],[728662,"Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome",["Sensorineural hearing impairment-brainstem malformation-motor delay-balance impairment syndrome","Sensorineural deafness-brainstem malformation-motor delay-balance impairment syndrome","ATOH1-related brainstem malformation syndrome"]],[728725,"Fetus in fetu",["Foetus in foetu","Fetus-in-fetu","FIF","Cryptodidymus"]],[728764,"NIT1-related cerebral small vessel disease",["NIT1-brain small vessel disease","NIT1-SVD"]],[728866,"Immune effector cell-associated neurotoxicity syndrome",["ICANS"]],[728877,"Esophageal atresia type A"],[728882,"Esophageal atresia type B"],[728885,"Esophageal atresia type C"],[728888,"Esophageal atresia type D"],[728891,"Esophageal atresia type E"],[728894,"Progestogen Hypersensitivity",["Autoimmune progesterone dermatitis"]],[728902,"Craniotubular dysplasia, Ikegawa type"],[729224,"Epilepsy-mild cortical malformation-oligodendroglial hyperplasia",["Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy","MOGHE"]],[729519,"Syndrome with a brainstem malformation as a major feature"],[729527,"Isolated cerebellar malformation"],[729538,"Syndromic rhombencephalosynapsis"],[729554,"Midbrain-Hindbrain malformation"],[729557,"Posterior fossa cystic malformation"],[729560,"Forebrain malformation"],[729563,"Isolated posterior fossa cystic malformation"],[729566,"Syndrome with a posterior fossa cystic malformation as a major feature"],[729649,"Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder"],[729761,"Sandestig-Stefanova syndrome",["Microphtalmia-craniofacial dysmorphism-neurological anomalies-congenital heart defect syndrome"]],[729781,"Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome",["Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural deafness syndrome","Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural deafness syndrome","Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural hearing loss syndrome","Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural hearing loss syndrome","Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural hearing loss syndrome"]],[730226,"Infant-type hemispheric glioma, fusion-negative",["Infant-type hemispheric glioma, methylation-based fusion-negative"]],[730230,"Autoimmune nodopathy"],[730233,"Anti-NF155 nodopathy",["Anti-neurofascin 155 nodopathy"]],[730238,"Anti-pan-neurofascin nodopathy",["Anti-pan-NRF nodopathy"]],[730243,"Anti-CNTN1 nodopathy",["Anti-contactin 1 nodopathy"]],[730248,"Anti-CASPR1 nodopathy",["Anti-contactin associated protein 1 nodopathy"]],[730256,"Low-grade fibromyxoid sarcoma",["LGFMS"]],[730261,"X-linked intellectual disability, Basilicata-Akhtar type",["MSL3-related X-linked intellectual disability","MSL3-related neurodevelopmental disorder","Basilicata-Akhtar syndrome"]],[730276,"Primary autoimmune ear disease",["Primary autoimmune sensorineural hearing loss","Immune mediated inner ear disease type 1","IMIED type 1"]],[730281,"Sclerosing epithelioid fibrosarcoma",["SEF"]],[730286,"Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome"],[730289,"Paraduodenal pancreatitis",["PP","Groove pancreatitis","Rinnenpankreatitis","Cystic dystrophy of the duodenal wall"]],[730300,"Squalene synthase deficiency",["SQS deficiency"]],[730318,"ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome"],[730322,"Isolated anophthalmia"],[730327,"Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome",["NARS1-related neurodevelopmental disorder"]],[730332,"Charcot-Marie-Tooth disease type 1J",["CMT1J"]],[730355,"Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome",["RYBP-related neurodevelopmental disorder"]],[730363,"Ethanol-producing endogenous fermentation syndrome",["Auto-brewery syndrome","Endogenous ethanol fermentation syndrome","ABS"]],[730373,"Tuberculid"],[730376,"Rare acquired isolated progressive generalized retinal disorder"],[730379,"Papulonecrotic tuberculid"],[730382,"Genetic midbrain-hindbrain malformation"],[730385,"Lichen scrofulosorum",["Tuberculosis cutis lichenoides"]],[730390,"Genetic posterior fossa cystic malformation"],[730393,"Genetic isolated posterior fossa cystic malformation"],[730396,"Invasive meningococcal disease",["IMD"]],[730401,"Erythema induratum of Bazin",["EIB"]],[730406,"Genetic syndrome with a posterior fossa cystic malformation as a major feature"],[730415,"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of not yet identified genetic/genomic cause"],[730418,"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of genetic/genomic origin"],[730421,"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder"],[730618,"RYR2-related catecholaminergic polymorphic ventricular tachycardia",["RYR2-related CPVT","RYR2-related malignant paroxysmal ventricular tachycardia","RYR2-related polymorphic ventricular tachycardia induced by catecholamines","CPVT1","RYR2-related bidirectional ventricular tachycardia induced by catecholamine"]],[730631,"CASQ2-related catecholaminergic polymorphic ventricular tachycardia",["CASQ2-related CPVT","CASQ2-related malignant paroxysmal ventricular tachycardia","CASQ2-related polymorphic ventricular tachycardia induced by catecholamines","CASQ2-related bidirectional ventricular tachycardia induced by catecholamine","CPVT2"]],[730644,"TECRL-related catecholaminergic polymorphic ventricular tachycardia",["TECRL-related CPVT","TECRL-related malignant paroxysmal ventricular tachycardia","TECRL-related polymorphic ventricular tachycardia induced by catecholamines","TECRL-related bidirectional ventricular tachycardia induced by catecholamine","CPVT3"]],[730657,"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia",["Calmodulin-related CPVT","Calmodulin-related malignant paroxysmal ventricular tachycardia","Calmodulin-related polymorphic ventricular tachycardia induced by catecholamines","Calmodulin-related bidirectional ventricular tachycardia induced by catecholamines"]],[730672,"Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder"],[730675,"Isolated complex neurodevelopmental disorder without ID/ASD of genetic/genomic origin"],[730679,"Isolated complex neurodevelopmental disorder without ID/ASD of not yet identified genetic/genomic cause"],[730682,"TRDN-related catecholaminergic polymorphic ventricular tachycardia",["TRDN-related CPVT","TRDN-related malignant paroxysmal ventricular tachycardia","TRDN-related polymorphic ventricular tachycardia induced by catecholamines","TRDN-related bidirectional ventricular tachycardia induced by catecholamine"]],[730693,"Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder"],[730696,"Genetic syndrome with a brainstem malformation as a major feature"],[730699,"Genetic syndromic rhombencephalosynapsis"],[730702,"Primary extra-pulmonary tuberculosis"],[730707,"Genetic forebrain malformation"],[730721,"Isolated partial colobomatous microphthalmia"],[730728,"Catecholaminergic polymorphic ventricular tachycardia without known causative genetic defect",["Malignant paroxysmal ventricular tachycardia without known causative genetic defect","Polymorphic ventricular tachycardia without known causative genetic defect","Bidirectional ventricular tachycardia without known causative genetic defect","CPVT without known causative genetic defect"]],[730740,"Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form"],[730743,"Childhood-onset TK2-related mitochondrial DNA maintenance defect, myopathic form"],[730746,"Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form"],[730866,"Wisconsin syndrome",["3q24q25 deletion syndrome","Deletion 3q24q25","Monosomy 3q24q25","Del(3)(q24q25)"]],[730882,"Primary amoebic meningoencephalitis",["PAM"]],[730887,"Granulomatous amoebic encephalitis",["GAE"]],[730892,"Ossifying fibromyxoid tumor",["OFMT"]]]}