{"meta":{"orphanetVersion":"2026-06-23","genccRunDate":"2026-10-25","clingenDate":"2026-10-25","count":10101},"dict":{"type":["Disease","Malformation syndrome","Clinical subtype","Clinical group","Category","Particular clinical situation in a disease or syndrome","Morphological anomaly","Etiological subtype","Biological anomaly","Clinical syndrome","Histopathological subtype"],"category":["Rare bone disease","Rare neurologic disease","Rare inborn error of metabolism","Rare developmental defect during embryogenesis","Rare hematologic disease","Rare skin disease","Rare odontologic disease","Rare cardiac disease","Rare infectious disease","Rare respiratory disease","Rare ophthalmic disorder","Rare neoplastic disease","Rare gastroenterologic disease","Rare renal disease","Rare systemic or rheumatologic disease","Rare endocrine disease","Rare immune disease","Rare hepatic disease","Rare otorhinolaryngologic disease","Rare gynecologic or obstetric disease","Rare infertility","Rare genetic disease","Genetic isolated posterior fossa cystic malformation","Rare circulatory system disease","Rare abdominal surgical disease","Rare maxillo-facial surgical disease","Rare urogenital disease","Rare disorder due to toxic effects","Rare allergic disease","Rare surgical thoracic disease","Rare disorder potentially indicated for transplant or complication after transplantation","Rare surgical cardiac disease"],"inheritance":["Autosomal recessive","Autosomal dominant","Not applicable","Multigenic/multifactorial","Unknown","X-linked recessive","Mitochondrial inheritance","X-linked dominant","Semi-dominant","Y-linked","Oligogenic","No data available","Not yet documented"],"onset":["Neonatal","Infancy","Childhood","All ages","Antenatal","Adolescent","Adult","Elderly","No data available"],"prevalence":[">1 / 1000","6-9 / 10 000","1-5 / 10 000","1-9 / 100 000","1-9 / 1 000 000","<1 / 1 000 000","Unknown","Cases or families only","Not documented"]},"rows":[[5,"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",0,2,[0],[0,1],3,1,12173,"HADHA",1,0],[6,"3-methylcrotonyl-CoA carboxylase deficiency",0,2,[0],[3],3,2,18950,"MCCC1 MCCC2",2,0],[7,"3C syndrome",1,3,[0,5],[4,0,1],5,4,19078,"WASHC5 CCDC22 VPS35L DPYSL5",0,0],[8,"47,XYY syndrome",1,3,[2],[3],2,0,19339,"",0,0],[9,"Tetrasomy X syndrome",1,3,[],[0,1],5,0,19525,"",0,0],[10,"48,XXYY syndrome",1,3,[2,4],[0,1,2,5],3,0,15028,"",0,0],[11,"Pentasomy X syndrome",1,3,[],[0],8,0,15228,"",0,0],[13,"6-pyruvoyl-tetrahydropterin synthase deficiency",2,2,[0],[0,1],5,1,9863,"PTS",2,0],[14,"Abetalipoproteinemia",0,2,[0],[1,2],5,1,8692,"MTTP",1,0],[15,"Achondroplasia",0,0,[1],[4,0],3,1,7037,"FGFR3",1,0],[16,"Blue cone monochromatism",0,10,[5],[1],3,2,10563,"OPN1LW OPN1MW",2,0],[17,"Fatal infantile lactic acidosis with methylmalonic aciduria",0,2,[0],[0,1],8,1,9504,"SUCLG1",1,0],[18,"Distal renal tubular acidosis",0,13,[1,0,2],[3],6,0,15827,"",0,0],[19,"2-hydroxyglutaric aciduria",3,2,[1,0],[2],8,0,16001,"",0,0],[20,"3-hydroxy-3-methylglutaric aciduria",0,2,[0],[3],4,1,9520,"HMGCL",1,0],[22,"Succinic semialdehyde dehydrogenase deficiency",0,2,[0],[0,1,2],4,1,10083,"ALDH5A1",1,0],[23,"Argininosuccinic aciduria",0,2,[0],[3],3,1,8815,"ASL",1,0],[24,"Fumaric aciduria",0,2,[0],[0,1],5,1,11730,"FH",1,0],[25,"Glutaryl-CoA dehydrogenase deficiency",0,2,[0],[0,1],3,1,9281,"GCDH",1,0],[26,"Methylmalonic acidemia with homocystinuria",0,2,[0,5],[3],6,0,16826,"",0,0],[27,"Vitamin B12-unresponsive methylmalonic acidemia",0,2,[0],[0,1,2],8,0,9612,"",1,0],[28,"Vitamin B12-responsive methylmalonic acidemia",0,2,[0],[2],6,0,17214,"",0,0],[29,"Mevalonic aciduria",2,2,[0],[0,1,2],5,1,12481,"MVK",1,0],[30,"Hereditary orotic aciduria",0,2,[0],[0,1],5,1,9797,"UMPS",1,0],[31,"Oxoglutaric aciduria",0,2,[0],[0],6,1,8759,"OGDH",1,0],[32,"Glutathione synthetase deficiency",0,4,[0],[0],5,0,17909,"",1,0],[33,"Isovaleric acidemia",0,2,[0],[0,1,2,5,6],3,1,9475,"IVD",1,0],[35,"Propionic acidemia",0,2,[0],[0,1],3,2,11628,"PCCA PCCB",2,0],[36,"Acrocallosal syndrome",2,3,[0],[4,0],5,2,8708,"GLI3 KIF7",1,0],[37,"Acrodermatitis enteropathica",0,5,[0],[0,1],4,1,8713,"SLC39A4",1,0],[38,"Acrokeratoelastoidosis of Costa",0,5,[1,2],[5,6],8,1,7047,"CCDC91",0,0],[39,"Acromelanosis",0,5,[4],[0,1],5,0,18311,"",0,0],[40,"Acromesomelic dysplasia, Maroteaux type",1,0,[0],[0,1],5,1,11275,"NPR2",1,0],[41,"Dyschromatosis symmetrica hereditaria",0,5,[1],[2],5,1,7483,"ADAR",1,0],[42,"Medium chain acyl-CoA dehydrogenase deficiency",0,2,[0],[0,1],3,1,8721,"ACADM",1,0],[43,"X-linked adrenoleukodystrophy",0,2,[7],[2,5,6,7],4,0,18544,"",1,0],[44,"Neonatal adrenoleukodystrophy",0,2,[0],[0,1,2],3,13,18598,"PEX2 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX26 PEX3 PEX5 PEX6 PEX11B",0,0],[45,"Adenosine monophosphate deaminase deficiency",0,2,[0],[3],6,2,13028,"AMPD1 AMPD3",0,0],[46,"Adenylosuccinate lyase deficiency",0,1,[0],[0,1,2],5,1,7068,"ADSL",1,0],[47,"X-linked agammaglobulinemia",2,16,[5],[2],4,1,10421,"BTK",1,0],[48,"Congenital bilateral absence of vas deferens",6,3,[3],[5,6],8,2,18801,"CFTR ADGRG2",0,0],[49,"Penile agenesis",6,3,[],[4,0],5,0,18846,"",0,0],[50,"Aicardi syndrome",0,3,[7],[0],4,0,10568,"",0,0],[51,"Aicardi-Goutières syndrome",0,1,[1,0],[4,0,1],2,9,18866,"RNASEH2A RNASEH2B RNASEH2C ADAR TREX1 SAMHD1 IFIH1 LSM11 RNU7-1",0,0],[52,"Alagille syndrome",1,3,[1],[3],3,0,7318,"",2,0],[53,"Albers-Schönberg osteopetrosis",1,0,[1],[2],3,1,8156,"CLCN7",1,0],[54,"X-linked recessive ocular albinism",0,10,[5],[0,1],4,2,21019,"GPR143 AP3D1",1,0],[55,"Oculocutaneous albinism",3,5,[0],[0],3,0,18910,"",0,0],[56,"Alkaptonuria",0,2,[0],[1,6],4,1,8753,"HGD",1,0],[57,"Glycogen storage disease due to aldolase A deficiency",0,2,[0],[0],8,1,12747,"ALDOA",1,0],[58,"Alexander disease",0,1,[1],[3],5,0,8752,"",1,0],[59,"Allan-Herndon-Dudley syndrome",0,1,[5],[4,0,1],5,1,10354,"SLC16A2",1,0],[60,"Alpha-1-antitrypsin deficiency",0,9,[0],[3],2,1,13282,"SERPINA1",1,0],[61,"Alpha-mannosidosis",0,2,[0],[0,1,2],4,0,9561,"",1,0],[62,"Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3",0,1,[0],[2,5],5,1,11968,"SGCA",1,0],[63,"Alport syndrome",0,13,[1,0,7],[2,5,6,7],3,0,18965,"",3,0],[64,"Alström syndrome",0,3,[0],[0,1,2,5,6],4,1,8763,"ALMS1",1,0],[65,"Leber congenital amaurosis",0,10,[1,0],[0,1],3,26,18998,"PRPH2 RD3 RDH12 RPE65 RPGRIP1 CABP4 CEP290 AIPL1 ALMS1 TULP1 CRB1 CRX GUCY2D IMPDH1 IQCB1 OTX2 LCA5 KCNJ13 LRAT SPATA7 GDF6 IFT140 NMNAT1 PCYT1A USP45 TUBB4B",3,0],[67,"Amoebiasis due to Entamoeba histolytica",0,8,[2],[3],8,0,19028,"",0,0],[68,"Amoebiasis due to free-living amoebae",0,8,[2],[3],3,0,19036,"",0,0],[69,"Amyloidosis",4,14,[],[3],3,0,19065,"",0,0],[70,"Proximal spinal muscular atrophy",0,1,[0],[3],3,0,19079,"",1,0],[71,"Chylomicron retention disease",0,2,[0],[1,2],5,1,9528,"SAR1B",1,0],[72,"Angelman syndrome",1,1,[2],[1],3,0,7113,"",1,0],[73,"Gorham-Stout disease",1,3,[2],[3],5,0,7414,"",0,0],[74,"Angiostrongyliasis",0,8,[2],[3],8,0,19143,"",0,0],[76,"Strongyloidiasis",0,8,[2],[3],5,0,5974,"",0,0],[78,"Ankylostomiasis",0,8,[2],[3],8,0,5645,"",0,0],[79,"Congenital alpha2-antiplasmin deficiency",0,4,[0],[2],5,1,9883,"SERPINF2",1,0],[80,"Antiphospholipid syndrome",0,14,[],[6],2,0,8000010,"",0,0],[81,"Antisynthetase syndrome",0,14,[2],[6,7],3,0,19344,"",0,0],[82,"Hereditary thrombophilia due to congenital antithrombin deficiency",0,4,[1],[5,6],2,1,13144,"SERPINC1",1,0],[83,"Antley-Bixler syndrome",1,3,[1,0],[4,0],8,0,8803,"",0,0],[84,"Fanconi anemia",1,3,[0,5],[2],4,23,19391,"RAD51 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCL FANCM FANCI PALB2 RAD51C SLX4 XRCC2 UBE2T MAD2L2 RFWD3 FAAP100",2,0],[85,"Congenital dyserythropoietic anemia",3,4,[1,0,5],[2],4,0,19403,"",0,0],[86,"Familial abdominal aortic aneurysm",0,23,[],[6,7],8,1,7031,"COL3A1",0,0],[87,"Apert syndrome",1,3,[1],[4,0],3,1,7041,"FGFR2",1,0],[88,"Idiopathic aplastic anemia",0,4,[4],[6],4,5,12197,"PRF1 SBDS IFNG TERT TERC",0,0],[90,"Argininemia",0,2,[0],[1,2],5,1,8814,"ARG1",1,0],[91,"Aromatase deficiency",0,15,[0],[3],5,1,13301,"CYP19A1",1,0],[92,"Juvenile idiopathic arthritis",3,14,[],[2],2,0,11429,"",0,0],[93,"Aspartylglucosaminuria",0,2,[0],[2],4,1,8830,"AGA",1,0],[94,"Astrocytoma",3,11,[],[3],3,0,21636,"",0,0],[95,"Friedreich ataxia",0,1,[0],[2,5],3,1,100339,"FXN",1,0],[96,"Ataxia with vitamin E deficiency",0,1,[0],[3],4,1,10188,"TTPA",1,0],[97,"Familial paroxysmal ataxia",0,1,[1],[2],8,1,7163,"CACNA1A",1,0],[98,"Autosomal recessive spastic ataxia of Charlevoix-Saguenay",0,1,[0],[1,2,5,6],1,1,10041,"SACS",1,0],[99,"Autosomal dominant cerebellar ataxia",4,1,[1],[3],3,0,20380,"",0,0],[100,"Ataxia-telangiectasia",0,1,[0],[1,2],4,1,8840,"ATM",1,0],[101,"Dentatorubral pallidoluysian atrophy",0,1,[1],[3],4,1,7435,"ATN1",1,0],[102,"Multiple system atrophy",0,1,[3,2],[6],3,0,7803,"",1,0],[104,"Leber hereditary optic neuropathy",0,10,[6],[5,6],3,12,10788,"MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NDUFS2 DNAJC30",4,0],[105,"Atresia of urethra",6,3,[2],[4,0],6,0,15195,"",0,0],[107,"BOR syndrome",1,3,[1],[4,0,1,2],3,3,7029,"SIX1 EYA1 SIX5",2,0],[108,"Babesiosis",0,8,[2],[3],8,0,5661,"",0,0],[109,"Bannayan-Riley-Ruvalcaba syndrome",2,3,[1],[0,1],8,1,7924,"PTEN",0,0],[110,"Bardet-Biedl syndrome",0,3,[0,10],[4,0,1,2],4,26,15229,"BBS1 BBS10 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 TRIM32 TTC8 ARL6 MKKS MKS1 NPHP1 BBS12 SDCCAG8 WDPCP CFAP418 LZTFL1 IFT172 BBIP1 CEP19 IFT27 IFT74 SCLT1 SCAPER",0,0],[111,"Barth syndrome",0,2,[5],[4,0,1,2],4,1,10543,"TAFAZZIN",1,0],[112,"Bartter syndrome",0,13,[1,0,5],[4,0,1,2,5,6],4,0,15231,"",0,0],[113,"Bazex-Dupré-Christol syndrome",0,5,[7],[0,1],5,0,10535,"",0,0],[114,"Auriculoosteodysplasia",1,0,[1],[0],5,0,7177,"",0,0],[115,"Congenital contractural arachnodactyly",1,3,[1],[0],8,1,7363,"FBN2",1,0],[116,"Beckwith-Wiedemann syndrome",1,3,[1,4],[4,0],3,0,7534,"",3,0],[117,"Behçet disease",0,14,[3],[2,5,6],3,15,7191,"FAS HLA-B IFNGR1 IL10 IL23R MEFV C4A IL12A UBAC2 STAT4 TLR4 CCR1 KLRC4 IL12A-AS1 ERAP1",0,0],[118,"Beta-mannosidosis",0,2,[0],[0,1,2,5,6],4,1,9562,"MANBA",1,0],[119,"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4",0,1,[0],[2,5],4,1,11423,"SGCB",1,0],[122,"Birt-Hogg-Dubé syndrome",1,11,[1],[2,5,6,7],8,2,800445,"FLCN PRDM10",1,0],[123,"Björnstad syndrome",0,2,[0],[0,1],5,1,9872,"BCS1L",1,0],[124,"Diamond-Blackfan anemia",0,4,[1],[0,1,2],4,26,15253,"RPS19 RPS24 GATA1 RPS17 RPS7 RPL5 RPL11 RPL35A RPS10 RPS26 RPL26 RPL15 ADA2 RPS29 TSR2 RPS28 RPS20 RPL27 RPL31 RPL9 RPS27 RPL35 RPL18 RPS15A HEATR3 RPL8",9,0],[125,"Bloom syndrome",0,3,[0],[4,0],5,1,8876,"BLM",2,0],[126,"Blepharophimosis-ptosis-epicanthus inversus syndrome",1,3,[1,2],[4],6,0,7201,"",1,0],[127,"Borjeson-Forssman-Lehmann syndrome",1,3,[5],[0],5,1,10537,"PHF6",1,0],[128,"Diphyllobothriasis",0,8,[2],[3],8,0,15260,"",0,0],[129,"Pseudopelade of Brocq",0,5,[2],[6],8,0,15261,"",0,0],[130,"Brugada syndrome",0,7,[1,2],[2,6],8,22,15263,"CACNA2D1 SLMAP ABCC9 PKP2 SCN1B SCN5A SCNN1A CACNB2 HCN4 KCNE5 KCNE3 AKAP9 TRPM4 GPD1L SCN3B SCN2B KCNJ8 CACNA1C KCND3 SCN10A SEMA3A RANGRF",1,0],[131,"Budd-Chiari syndrome",0,17,[3],[3],3,3,10947,"F5 JAK2 CALR",0,0],[132,"Hereditary butyrylcholinesterase deficiency",0,2,[0],[0,1],3,1,15270,"BCHE",1,0],[133,"Chronic beryllium disease",0,9,[2],[6],8,1,15274,"HLA-DPB1",0,0],[134,"Beta-ketothiolase deficiency",0,2,[0],[0,1,2],4,1,8760,"ACAT1",1,0],[135,"CACH syndrome",0,1,[0],[2],6,0,800448,"",1,0],[136,"CADASIL",0,1,[1],[6],3,1,914,"NOTCH3",1,0],[137,"Congenital disorder of glycosylation",4,2,[0,5],[0,1],3,0,15286,"",6,0],[138,"CHARGE syndrome",1,3,[1,4],[4,0],3,2,8965,"SEMA3E CHD7",1,0],[139,"CHILD syndrome",0,3,[7],[4,0,1],5,1,10621,"NSDHL",1,0],[140,"Campomelic dysplasia",1,0,[1],[4,0],5,1,7251,"SOX9",1,0],[141,"Canavan disease",0,1,[0],[0,1,2],3,0,10079,"",1,0],[142,"Anaplastic thyroid carcinoma",0,11,[2],[6,7],4,0,6468,"",0,0],[143,"Parathyroid carcinoma",0,11,[2],[6],4,1,12004,"CDC73",1,0],[144,"Lynch syndrome",0,11,[1],[6],6,9,5835,"PIK3CA PMS1 PMS2 TGFBR2 KRAS MLH1 MSH2 MSH6 EPCAM",5,0],[145,"Hereditary breast and/or ovarian cancer syndrome",0,11,[1],[6,7],6,15,3582,"PTEN RAD51 BRCA1 BRCA2 BRIP1 CHEK2 TP53 ATM MRE11 NBN PALB2 BARD1 RAD51C RAD50 RAD51D",0,0],[146,"Differentiated thyroid carcinoma",0,11,[2],[2,5,6],3,29,15447,"PPARG RET BRAF CCDC6 TFG TPR TRIM24 TRIM27 TRIM33 ERC1 FOXE1 GOLGA5 HRAS KRAS NTRK1 PAX8 PCM1 TERT ETV6 NKX2-1 ALK NRAS NTRK3 NCOA4 DIRC3 NDUFA13 EIF1AX GAS8-AS1 LPAR4",0,0],[147,"Carbamoyl-phosphate synthetase 1 deficiency",0,2,[0],[3],4,1,9376,"CPS1",1,0],[148,"Multiple carboxylase deficiency",3,2,[0],[0,1],8,0,15454,"",0,0],[150,"Nasopharyngeal carcinoma",0,11,[3,2],[3],3,1,15459,"NFKBIA",0,0],[154,"Familial isolated dilated cardiomyopathy",0,7,[1,0,6,5],[3],2,55,15470,"ABCC9 ACTC1 PSEN1 PSEN2 SCN5A SDHA SGCD TAFAZZIN TCAP TNNI3 TNNT2 TPM1 TTN CRYAB CSRP3 DES DMD DSG2 DSP FKTN LDB3 LMNA DOLK MYBPC3 MYH6 MYH7 RAF1 TMPO TNNC1 VCL ACTN2 FHL2 PLN BAG3 RBM20 NEXN JPH2 TXNRD2 GATAD1 MYPN LAMA4 PRDM16 ANKRD1 HAND2 TAF1A PPCS CAP2 LMOD2 BAG5 VEZF1 RPL3L GET3 C10ORF71 FLNC NRAP",0,0],[156,"Carnitine palmitoyl transferase 1A deficiency",0,2,[0],[0,1],5,1,9705,"CPT1A",1,0],[157,"Carnitine palmitoyltransferase II deficiency",0,2,[0],[3],3,0,15515,"",1,0],[158,"Systemic primary carnitine deficiency",0,2,[0],[0,1],3,1,8919,"SLC22A5",1,0],[159,"Carnitine-acylcarnitine translocase deficiency",0,2,[0],[0,1],5,1,8918,"SLC25A20",1,0],[160,"Castleman disease",0,4,[2],[3],3,0,15564,"",0,0],[162,"Congenital cataract-anterior segment dysgenesis syndrome",1,10,[1],[0,1],5,1,15567,"PITX3",0,0],[163,"Hereditary hyperferritinemia-cataract syndrome",0,10,[1],[3],5,1,10952,"FTL",1,0],[165,"Neutral lipid storage disease",3,2,[0],[0,1],5,0,15611,"",0,0],[166,"Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy",4,1,[1,0,7,5],[3],2,0,15626,"",18,0],[167,"Chédiak-Higashi syndrome",0,16,[0],[2],5,1,8963,"LYST",1,0],[168,"Loose anagen syndrome",0,5,[1],[2],8,0,10908,"",0,0],[169,"Ringed hair disease",0,5,[1,2],[2],6,0,8388,"",0,0],[170,"Woolly hair",0,5,[1,0],[0,1],6,5,8686,"LPAR6 LIPH KRT74 KRT71 KRT25",0,0],[171,"Primary sclerosing cholangitis",0,17,[3],[2,5,6,7],3,4,13433,"TCF4 GPR35 MST1 SEMA4D",0,0],[172,"Progressive familial intrahepatic cholestasis",0,17,[0],[0,1,2,5],8,0,15762,"",3,0],[173,"Cholera",0,8,[2],[3],5,0,15766,"",0,0],[174,"Metaphyseal chondrodysplasia, Schmid type",0,0,[1],[0,1,2],8,1,7983,"COL10A1",1,0],[175,"Cartilage-hair hypoplasia",0,0,[0],[4,0,1],0,1,9595,"RMRP",1,0],[176,"Non-rhizomelic chondrodysplasia punctata",3,0,[1,0,7,5],[0,1],8,0,15775,"",0,0],[177,"Rhizomelic chondrodysplasia punctata",0,0,[0],[4,0],4,0,15776,"",0,0],[178,"Chordoma",0,11,[1,2],[6],5,3,8978,"BRCA2 TBXT PALB2",1,0],[179,"Birdshot chorioretinopathy",0,10,[4],[6,7],4,1,11599,"HLA-A",0,0],[180,"Choroideremia",0,10,[5],[2,5,6],3,1,10557,"CHM",1,0],[181,"X-linked hypohidrotic ectodermal dysplasia",7,3,[5],[1,2],4,2,10585,"EDA EDA2R",1,0],[182,"Chromomycosis",0,8,[2],[3],8,0,15908,"",0,0],[183,"Eosinophilic granulomatosis with polyangiitis",0,14,[2],[5,6,7],3,0,15943,"",0,0],[184,"Cherubism",1,0,[1,0,2],[2],5,1,7315,"SH3BP2",1,0],[185,"Scimitar syndrome",1,3,[2],[4,0,1,2,5,6],3,0,15987,"",0,0],[186,"Primary biliary cholangitis",0,17,[3,4],[5,6,7],2,8,5388,"IL12RB1 SPIB IL12A IRF5 TNPO3 MMEL1 TNFSF15 POU2AF1",0,0],[187,"Citrullinemia",4,2,[0],[0,6],8,0,15991,"",0,0],[188,"Systemic capillary leak syndrome",0,14,[2],[6],5,0,1956,"",0,0],[189,"Hidrotic ectodermal dysplasia",0,3,[1],[2],8,1,7510,"GJB6",1,0],[190,"Coats disease",0,3,[2],[2],5,1,10269,"NDP",0,0],[191,"Cockayne syndrome",0,3,[0],[3],4,0,16006,"",0,0],[192,"Coffin-Lowry syndrome",1,3,[7],[0,1,2],3,1,10561,"RPS6KA3",1,0],[193,"Cohen syndrome",1,3,[0],[4,0,1],6,1,8999,"VPS13B",1,0],[195,"Cat-eye syndrome",1,3,[2],[4,0],3,0,7276,"",0,0],[198,"Occipital horn syndrome",0,2,[5],[0,1,2],5,1,10572,"ATP7A",1,0],[199,"Cornelia de Lange syndrome",1,3,[1,2,5],[4,0],3,7,16033,"SMC1A NIPBL SMC3 HDAC8 RAD21 BRD4 MAU2",5,0],[200,"Isolated corpus callosum agenesis",6,3,[2],[4],3,0,9022,"",2,0],[201,"Cowden syndrome",2,3,[1],[3],4,1,16063,"PTEN",0,0],[204,"Sporadic Creutzfeldt-Jakob disease",0,1,[2],[6,7],5,0,16079,"",0,0],[205,"Crigler-Najjar syndrome",0,17,[0],[0,1],3,0,9044,"",0,0],[207,"Crouzon syndrome",1,3,[1],[4,0,1],4,1,7405,"FGFR2",1,0],[209,"Cutis laxa",3,5,[1,0,2,5],[],4,0,16175,"",0,0],[210,"Cyclosporiasis",0,8,[2],[3],8,0,5725,"",0,0],[211,"Familial cylindromatosis",2,5,[1],[5,6],8,1,7565,"CYLD",1,0],[212,"Cystathioninuria",0,2,[0],[3],3,1,9058,"CTH",1,0],[213,"Cystinosis",0,2,[0],[1,2,5,6],4,0,16239,"",1,0],[214,"Cystinuria",0,13,[0,8],[3],2,0,9067,"",2,0],[215,"Congenital stationary night blindness",3,10,[1,0,5],[0],8,0,16293,"",0,0],[216,"Neuronal ceroid lipofuscinosis",3,1,[1,0],[3],3,0,16295,"",9,0],[217,"Isolated Dandy-Walker malformation",6,22,[3],[4,0],3,2,9072,"ZIC1 ZIC4",0,0],[218,"Darier disease",0,5,[1],[2,5,6],3,1,7417,"ATP2A2",1,0],[219,"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6",0,1,[0],[2],4,1,11028,"SGCD",1,0],[220,"Denys-Drash syndrome",0,13,[1],[0,1,2,5],6,1,8682,"WT1",1,0],[221,"Dermatomyositis",0,14,[2],[6,7],3,0,16367,"",0,0],[222,"Erosive pustular dermatosis of the scalp",0,5,[2],[2,5,6,7],8,0,16379,"",0,0],[223,"Arginine vasopressin resistance",0,13,[1,0,5],[0,1],4,2,16383,"AVPR2 AQP2",2,0],[224,"Neonatal diabetes mellitus",3,15,[1,0,2],[0,1],3,0,16391,"",11,0],[226,"Dihydropteridine reductase deficiency",2,2,[0],[0,1],6,1,9862,"QDPR",1,0],[227,"Diphallia",6,3,[],[0,1],8,0,16416,"",0,0],[229,"Familial aortic dissection",0,23,[],[3],4,1,24559,"MYH11",0,0],[230,"Dopamine beta-hydroxylase deficiency",0,2,[0],[0,1,2,5,6],5,1,9123,"DBH",1,0],[231,"Dracunculiasis",0,8,[],[3],6,0,16472,"",0,0],[232,"Sickle cell anemia",0,4,[0],[3],2,1,11382,"HBB",1,0],[233,"Duane retraction syndrome",1,10,[1,0,2],[0,1],8,3,7473,"SALL4 CHN1 MAFB",0,0],[234,"Dubin-Johnson syndrome",0,17,[0],[5,6],8,1,9380,"ABCC2",1,0],[235,"Dubowitz syndrome",1,3,[4],[4,0],4,0,9124,"",0,0],[236,"Trisomy 9p syndrome",1,3,[],[4,0],5,0,16526,"",0,0],[237,"Duplication of urethra",6,3,[],[0,1],5,0,16529,"",0,0],[239,"Dyggve-Melchior-Clausen disease",0,0,[0],[1],5,1,9130,"DYM",1,0],[240,"Léri-Weill dyschondrosteosis",1,0,[1],[4,0,1,2,5],6,1,7481,"SHOX",1,0],[241,"Dyschromatosis universalis hereditaria",0,5,[1,0],[1,2],8,1,736,"ABCB6",0,0],[242,"46,XY complete gonadal dysgenesis",1,3,[1,0,5,9],[5,6],6,10,10765,"SOX9 SRY WT1 DHH NR0B1 NR5A1 DMRT1 CBX2 MAP3K1 DHX37",0,0],[243,"46,XX gonadal dysgenesis",1,3,[1,0,2,5],[5,6],6,12,9299,"PSMC3IP NUP107 SPIDR MSH4 POLR3H BNC1 ZSWIM7 FIGLA FSHR MRPS22 BMP15 NR5A1",0,0],[244,"Primary ciliary dyskinesia",0,9,[1,0,5],[0],3,53,16575,"RPGR DNAH11 DNAH5 DNAI1 OFD1 NME8 DNAI2 DNAAF2 RSPH9 RSPH4A DNAAF1 CCDC39 CCDC40 DNAL1 DNAAF3 DNAAF19 DNAAF5 HYDIN DNAAF11 ODAD1 DRC1 ODAD2 DNAAF4 RSPH1 ZMYND10 CFAP298 DRC2 SPAG1 CCNO DNAH1 ODAD3 RSPH3 DRC4 DNAJB13 ODAD4 MCIDAS DNAAF6 STK36 FOXJ1 CFAP300 LRRC56 DNAH9 GAS2L2 CFAP221 SPEF2 TTC12 NEK10 NME5 CFAP74 DNAH7 BRWD1 DAW1 CLXN",4,0],[245,"Nager syndrome",1,3,[1,0,2],[4,0],4,1,7943,"SF3B4",1,0],[246,"Postaxial acrofacial dysostosis",1,3,[0],[4,0],5,1,9903,"DHODH",1,0],[247,"Inherited arrhythmogenic cardiomyopathy",3,7,[1,0],[5,6],2,0,16587,"",4,0],[248,"Autosomal recessive hypohidrotic ectodermal dysplasia",7,3,[0],[0,1],8,4,16619,"CSTB EDAR EDARADD WNT10A",0,0],[249,"Fibrous dysplasia of bone",1,0,[2],[2,5,6],8,0,845,"",0,0],[250,"Frontonasal dysplasia",3,3,[2],[4,0],4,0,16643,"",0,0],[251,"Multiple epiphyseal dysplasia",3,0,[1,0],[0,1],3,0,16648,"",0,0],[253,"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia",3,0,[],[3],8,0,0,"",0,0],[254,"Spondylometaphyseal dysplasia",3,0,[1,0,5],[1],3,0,16763,"",0,0],[255,"Dopa-responsive dystonia",3,1,[1,0,2],[2],4,0,16812,"",0,0],[256,"Early-onset generalized limb-onset dystonia",0,1,[1],[2,5,6],4,3,7492,"TOR1A EIF2AK2 SHQ1",1,0],[257,"Epidermolysis bullosa simplex with muscular dystrophy",0,5,[0],[0,1],5,1,9181,"PLEC",1,0],[258,"Laminin subunit alpha 2-related congenital muscular dystrophy",1,1,[0],[4,0,1],4,1,11925,"LAMA2",1,0],[261,"Emery-Dreifuss muscular dystrophy",0,1,[1,0,5],[2],4,0,16830,"",0,0],[262,"Duchenne and Becker muscular dystrophy",3,1,[5],[2,5,6],4,0,16899,"",1,0],[263,"Limb-girdle muscular dystrophy",3,1,[1,0],[3],3,0,16971,"",0,0],[267,"Calpain-3-related limb-girdle muscular dystrophy R1",0,1,[0],[2,5,6],3,1,9675,"CAPN3",1,0],[268,"Dysferlin-related limb-girdle muscular dystrophy R2",0,1,[0],[5,6],4,1,9676,"DYSF",1,0],[269,"Facioscapulohumeral dystrophy",0,1,[1],[3],3,6,1347,"DNMT3B DUX4L1 FRG1 SMCHD1 SMCHD1 DUX4",1,0],[270,"Oculopharyngeal muscular dystrophy",0,1,[1,0],[6,7],3,1,8116,"PABPN1",2,0],[272,"Congenital muscular dystrophy, Fukuyama type",1,3,[0],[1],3,1,9678,"FKTN",1,0],[273,"Steinert myotonic dystrophy",0,1,[1],[4,0,1,2,5,6],3,0,8056,"",1,0],[274,"Bernard-Soulier syndrome",0,4,[1,0],[3],5,3,9276,"GP1BA GP1BB GP9",3,0],[275,"T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency",0,16,[0],[0,1],6,1,11225,"DCLRE1C",1,0],[276,"T-B+NK- severe combined immunodeficiency due to gamma chain deficiency",0,16,[5],[0],8,1,10315,"IL2RG",1,0],[277,"T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency",0,16,[0],[0,1],4,1,7064,"ADA",1,0],[280,"Wolf-Hirschhorn syndrome",1,3,[3,2],[4,0],3,6,8684,"NSD2 NELFA LETM1 CPLX1 PIGG CTBP1",1,0],[281,"Monosomy 5p syndrome",1,3,[2,4],[4],3,2,7404,"SEMA5A CTNND2",0,0],[282,"Frontotemporal dementia",3,1,[1],[6],3,0,17276,"",0,0],[283,"Demodicidosis",0,8,[],[],8,0,17280,"",0,0],[284,"Alveolar echinococcosis",0,8,[2],[6,7],4,0,17282,"",0,0],[285,"Hypermobile Ehlers-Danlos syndrome",0,14,[1,0],[3],8,0,7523,"",0,0],[286,"Vascular Ehlers-Danlos syndrome",0,14,[1,0],[0,1],3,1,17314,"COL3A1",1,0],[287,"Classical Ehlers-Danlos syndrome",0,14,[1],[0,1,2],3,3,7522,"COL1A1 COL5A1 COL5A2",3,0],[288,"Hereditary elliptocytosis",0,4,[1,0],[3],2,4,17319,"SPTA1 SPTB EPB41 GYPC",0,0],[289,"Ellis-Van Creveld syndrome",1,0,[0],[4,0],4,6,9162,"EVC EVC2 PRKACA DYNC2LI1 GLI1 PRKACB",2,0],[290,"Congenital rubella syndrome",0,3,[2],[4,0],4,0,17361,"",0,0],[291,"Congenital varicella syndrome",0,3,[2],[4,0],6,0,17372,"",0,0],[292,"Congenital enterovirus infection",0,8,[2],[4,0],8,0,17375,"",0,0],[293,"Congenital herpes simplex virus infection",0,3,[2],[4,0],8,0,17381,"",0,0],[294,"Fetal cytomegalovirus syndrome",0,3,[2],[4,0],8,0,17409,"",0,0],[295,"Fetal parvovirus syndrome",1,3,[2],[4,0],8,0,17453,"",0,0],[296,"Ollier disease",0,0,[2],[2,5,6],3,3,8145,"PTH1R IDH2 IDH1",0,0],[297,"Tick-borne encephalitis",0,8,[2],[3],8,0,17572,"",0,0],[298,"Mitochondrial neurogastrointestinal encephalomyopathy",0,2,[0],[2,5,6],4,4,17575,"POLG TYMP RRM2B LIG3",0,0],[300,"Bifunctional enzyme deficiency",0,2,[0],[1],5,2,9855,"HSD17B4 EHHADH",1,0],[301,"Ependymal tumor",3,11,[],[3],3,0,3266,"",0,0],[302,"Inherited epidermodysplasia verruciformis",0,5,[0],[3],5,4,9176,"TMC6 TMC8 CIB1 IL7",4,0],[303,"Dystrophic epidermolysis bullosa",3,5,[1,0],[0,1],4,0,6543,"",0,0],[304,"Epidermolysis bullosa simplex",3,5,[1,0],[0,1,2,5],4,0,17610,"",3,0],[305,"Junctional epidermolysis bullosa",3,5,[0],[4,0,1,5],5,0,17612,"",4,0],[306,"Self-limited infantile epilepsy",0,1,[1],[1],2,5,17615,"SCN2A KCNQ2 KCNQ3 PRRT2 SCN8A",0,0],[307,"Juvenile myoclonic epilepsy",0,1,[3],[2,5],3,8,9696,"CACNB4 EFHC1 GABRA1 GABRD KCNQ3 JRK CILK1 CLCN2",0,0],[308,"Progressive myoclonic epilepsy type 1",0,1,[0],[2,5],3,3,9698,"CSTB SCARB2 PRICKLE1",1,0],[310,"Reflex epilepsy",3,1,[],[2],8,0,17768,"",0,0],[312,"Autosomal dominant epidermolytic ichthyosis",0,5,[1],[0],4,2,20702,"KRT1 KRT10",0,0],[313,"Lamellar ichthyosis",0,5,[1,0],[0],4,10,17778,"ABCA12 ALOX12B ALOXE3 TGM1 CYP4F22 NIPAL4 LIPN SULT2B1 SDR9C7 ASPRV1",0,0],[314,"Erythroderma desquamativum",0,5,[0],[1],1,0,17787,"",0,0],[315,"Erythrokeratoderma ''en cocardes''",0,5,[1],[2],8,0,17836,"",0,0],[316,"Progressive symmetric erythrokeratodermia",0,5,[1],[0,1],8,4,17851,"KRT83 LORICRIN TRPM4 KDSR",1,0],[317,"Erythrokeratodermia variabilis",0,5,[1,0],[0,1],5,4,17851,"GJA1 GJB3 GJB4 KDSR",1,0],[318,"Acute erythroid leukemia",0,11,[2],[2,5,6,7],6,0,17858,"",0,0],[319,"Skeletal Ewing sarcoma",0,11,[2],[3],4,5,12817,"ERG ETV1 EWSR1 FLI1 ETV4",0,0],[320,"Apparent mineralocorticoid excess",0,15,[0],[0,1],8,1,9025,"HSD11B2",1,0],[321,"Multiple osteochondromas",0,0,[1],[2],3,2,5508,"EXT1 EXT2",0,0],[322,"Exstrophy-epispadias complex",1,3,[3],[4,0],8,0,17919,"",2,0],[324,"Fabry disease",0,2,[7,5],[2,5,6],4,1,10526,"GLA",1,0],[325,"Congenital factor II deficiency",0,4,[0],[3],5,1,13361,"F2",1,0],[326,"Congenital factor V deficiency",0,4,[0],[3],4,1,9210,"F5",1,0],[327,"Congenital factor VII deficiency",0,4,[1,0],[3],4,1,9211,"F7",1,0],[328,"Congenital factor X deficiency",0,4,[0],[3],4,1,9212,"F10",1,0],[329,"Congenital factor XI deficiency",0,4,[1,0],[3],8,1,12897,"F11",1,0],[330,"Congenital factor XII deficiency",0,4,[0],[3],8,1,9315,"F12",1,0],[331,"Congenital factor XIII deficiency",0,4,[0,2],[3],5,2,18029,"F13A1 F13B",0,0],[332,"Congenital intrinsic factor deficiency",0,4,[0,2],[2],5,1,9852,"CBLIF",1,0],[333,"Farber disease",0,2,[0],[4,0,1,2],5,1,9218,"ASAH1",1,0],[334,"Hereditary atrial fibrillation",0,7,[1],[6,7],8,24,18054,"ABCC9 PITX2 SCN1B SCN5A TTN GATA4 KCNE1 KCNE2 KCNJ2 KCNQ1 NKX2-5 GJA5 NKX2-6 SCN4B KCNA5 NUP155 NPPA SCN3B KCNJ5 GATA6 GATA5 SCN2B MYL4 KCNJ3",0,0],[335,"Congenital fibrinogen deficiency",0,4,[1,0],[3],8,0,18060,"",3,0],[337,"Fibrodysplasia ossificans progressiva",0,0,[1,2],[2],5,1,7606,"ACVR1",1,0],[340,"Hemorrhagic fever-renal syndrome",0,8,[2],[3],2,0,18081,"",0,0],[341,"Viral hemorrhagic fever",4,8,[2],[3],8,0,18087,"",0,0],[342,"Familial Mediterranean fever",0,14,[1,0],[1,2,5,6],0,1,18088,"MEFV",1,0],[343,"Hyperimmunoglobulinemia D with periodic fever",2,2,[0],[1],6,1,9849,"MVK",1,0],[345,"Dissecting cellulitis of the scalp",0,5,[2],[6],8,0,9848,"",0,0],[346,"Quinquaud folliculitis decalvans",0,5,[2],[6],8,0,18103,"",0,0],[347,"Frasier syndrome",0,13,[1],[2,5,6],5,1,7635,"WT1",0,0],[348,"Fructose-1,6-bisphosphatase deficiency",0,2,[0],[3],4,1,9251,"FBP1",1,0],[349,"Fucosidosis",0,2,[0],[1,2],5,1,9254,"FUCA1",1,0],[351,"Galactosialidosis",0,2,[0],[3],4,1,9737,"CTSA",1,0],[352,"Galactosemia",4,2,[0],[0,1,2],3,0,18116,"",1,0],[353,"Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5",0,1,[0],[2],4,1,9677,"SGCG",1,0],[354,"GM1 gangliosidosis",0,2,[0],[2],4,0,18149,"",1,0],[355,"Gaucher disease",0,2,[0],[3],3,0,18150,"",1,0],[356,"Gerstmann-Straussler-Scheinker syndrome",0,1,[1,2],[6],5,1,7656,"PRNP",1,0],[358,"Gitelman syndrome",0,13,[0],[2],8,2,9904,"SLC12A3 CLCNKB",1,0],[359,"Pediatric-onset glaucoma of genetic origin",4,10,[1,0],[2],8,0,18174,"",0,0],[360,"Glioblastoma",0,11,[3,2],[3],3,0,18177,"",0,0],[361,"Familial glucocorticoid deficiency",0,15,[0],[1,2],4,5,8733,"STAR MC2R MRAP TXNRD2 NNT",0,0],[364,"Glycogen storage disease due to glucose-6-phosphatase deficiency",0,2,[0],[0,1],3,0,2413,"",1,0],[365,"Glycogen storage disease due to acid maltase deficiency",0,2,[0],[4,0,1,2,5,6],3,0,9290,"",1,0],[366,"Glycogen storage disease due to glycogen debranching enzyme deficiency",0,2,[0],[1,2],3,1,9291,"AGL",1,0],[367,"Glycogen storage disease due to glycogen branching enzyme deficiency",0,2,[0],[3],8,0,9292,"",1,0],[368,"Glycogen storage disease due to muscle glycogen phosphorylase deficiency",0,2,[0],[2,5,6],4,1,9293,"PYGM",1,0],[369,"Glycogen storage disease due to liver glycogen phosphorylase deficiency",0,2,[0],[2],3,1,9294,"PYGL",1,0],[370,"Glycogen storage disease due to phosphorylase kinase deficiency",3,2,[0,5],[3],3,0,700291,"",0,0],[371,"Glycogen storage disease due to muscle phosphofructokinase deficiency",0,2,[0],[1,2,5,6],5,1,9295,"PFKM",1,0],[373,"Simpson-Golabi-Behmel syndrome",1,3,[5],[4,0,1,2],5,2,10731,"GPC3 GPC4",1,0],[375,"Anti-glomerular basement membrane disease",0,14,[2],[5,6,7],4,0,9303,"",0,0],[376,"Gordon syndrome",1,3,[1],[4,0],8,1,7252,"PIEZO2",1,0],[377,"Gorlin syndrome",1,3,[1],[5,6],3,3,7187,"PTCH1 PTCH2 SUFU",3,0],[379,"Chronic granulomatous disease",0,16,[0,5],[1,2,5,6],4,6,18305,"CYBB NCF1 NCF2 CYBA NCF4 CYBC1",0,0],[380,"Greig cephalopolysyndactyly syndrome",1,3,[1],[4],4,1,8287,"GLI3",1,0],[381,"Griscelli syndrome",0,5,[0],[1,2],5,0,18306,"",0,0],[382,"Guanidinoacetate methyltransferase deficiency",0,2,[0],[1,2],5,1,12999,"GAMT",1,0],[384,"Huriez syndrome",0,5,[1],[0,1],5,1,8416,"SMARCAD1",1,0],[385,"Neurodegeneration with brain iron accumulation",3,1,[1,0,7],[1,2,5,6],4,0,18307,"",0,0],[386,"Hepatic cystic hamartoma",0,17,[],[1],5,0,18308,"",0,0],[388,"Hirschsprung disease",0,12,[1,0,3,2],[0,1,2],2,14,18309,"ABCD1 RET ATP7A ECE1 EDN3 EDNRB GDNF NRTN ERBB3 SEMA3C SEMA3D SMO ERBB2 SREBF1",1,0],[389,"Langerhans cell histiocytosis",0,14,[4],[3],3,2,18310,"MAP2K1 NRAS",0,0],[390,"Histoplasmosis",0,8,[],[],8,0,18312,"",0,0],[391,"Classic Hodgkin lymphoma",0,11,[4],[3],2,0,9348,"",0,0],[392,"Holt-Oram syndrome",1,3,[1],[4,0],4,1,7732,"TBX5",1,0],[393,"46,XX testicular difference of sex development",1,3,[1],[4,0,5],3,5,100249,"SOX9 SRY NR0B1 SOX3 NR5A1",0,0],[394,"Homocystinuria due to cystathionine beta-synthase deficiency",0,2,[0],[2,5,6],3,1,9352,"CBS",1,0],[395,"Homocystinuria due to methylene tetrahydrofolate reductase deficiency",0,2,[0],[0,1],8,1,9353,"MTHFR",1,0],[396,"Chronic hiccup",0,1,[2],[3],3,0,18334,"",0,0],[397,"Giant cell arteritis",0,14,[3],[6],2,4,8538,"HLA-B HLA-DRB1 PTPN22 P4HA2",0,0],[399,"Huntington disease",0,1,[1],[2,5,6,7],3,2,7739,"HTT SLC2A3",1,0],[400,"Cystic echinococcosis",0,8,[2],[6],3,0,18408,"",0,0],[401,"Hymenolepiasis",0,8,[2],[3],6,0,5802,"",0,0],[403,"Familial hyperaldosteronism type I",0,15,[1],[2,5,6],6,2,7080,"CYP11B1 CYP11B2",1,0],[404,"Familial hyperaldosteronism type II",0,15,[1],[6],6,1,11576,"CLCN2",1,0],[405,"Familial hypocalciuric hypercalcemia",0,15,[1],[3],6,0,18458,"",0,0],[407,"Glycine encephalopathy",0,1,[0],[0,1],4,0,11612,"",2,0],[408,"Isolated glycerol kinase deficiency",0,2,[5],[3],8,0,18459,"",0,0],[409,"Hyperkeratosis lenticularis perstans",0,5,[1,2],[6],8,0,7756,"",0,0],[412,"Dysbetalipoproteinemia",0,15,[1,3],[2,5,6,7],2,1,18473,"APOE",1,0],[414,"Gyrate atrophy of choroid and retina",0,10,[0],[2],5,1,9796,"OAT",1,0],[415,"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome",0,2,[0],[0,1,2,5,6],5,1,9393,"SLC25A15",1,0],[416,"Primary hyperoxaluria",0,13,[0],[3],4,0,2474,"",0,0],[417,"Neonatal severe primary hyperparathyroidism",0,0,[0,2],[0],8,2,9397,"CASR TRPV6",1,0],[418,"Congenital adrenal hyperplasia",3,15,[0],[],3,0,18479,"",0,0],[419,"Hyperprolinemia type 1",0,2,[0],[3],8,1,9400,"PRODH",1,0],[422,"Idiopathic/heritable pulmonary arterial hypertension",0,9,[1,0,2],[3],3,0,8347,"",15,0],[423,"Malignant hyperthermia of anesthesia",0,1,[1],[3],8,2,18493,"RYR1 CACNA1S",1,0],[424,"Familial hyperthyroidism due to mutations in TSH receptor",0,15,[1],[3],7,1,12203,"TSHR",1,0],[425,"Apolipoprotein A-I deficiency",0,15,[1],[3],5,2,100189,"APOA1 ABCA1",0,0],[427,"Familial hypoaldosteronism",0,15,[0],[0,1,5,6],8,0,18541,"",0,0],[428,"Autosomal dominant hypocalcemia",2,15,[1],[3],4,2,18543,"CASR GNA11",0,0],[429,"Hypochondroplasia",0,0,[1],[4,0,1,2,5,6],3,1,7793,"FGFR3",1,0],[432,"Normosmic congenital hypogonadotropic hypogonadism",2,15,[1,0,3,5],[0,1],8,19,18555,"EMX2 PROK2 PROKR2 CHD7 FGFR1 GNRHR KISS1R NSMF GNRH1 FGF8 TAC3 TACR3 WDR11 HS6ST1 KISS1 FGF17 DUSP6 SPRY4 NHLH2",3,0],[436,"Hypophosphatasia",0,0,[1,0],[3],5,0,18570,"",1,0],[437,"Hypophosphatemic rickets",3,0,[1,0,7],[3],6,0,44,"",0,0],[439,"Isolated right ventricular hypoplasia",6,3,[0,2],[0,1],8,0,10179,"",0,0],[441,"Pure autonomic failure",0,1,[2],[6,7],4,0,18608,"",0,0],[442,"Congenital hypothyroidism",4,15,[0],[4,0],2,0,18612,"",3,0],[444,"Marie Unna hereditary hypotrichosis",0,5,[1],[0,1],8,2,18631,"HR EPS8L3",0,0],[446,"Neonatal hemochromatosis",0,17,[0],[0],5,0,9275,"",0,0],[447,"Paroxysmal nocturnal hemoglobinuria",0,4,[2],[3],3,1,100244,"PIGA",0,0],[448,"Hemophilia",3,4,[5],[4,0,1],3,0,18660,"",0,0],[449,"Hepatoblastoma",0,11,[2],[0,1,2],5,0,18666,"",0,0],[450,"Visceral heterotaxy",6,3,[1,0,5],[4,0,1],2,0,18677,"",3,0],[452,"X-linked lissencephaly with abnormal genitalia",1,3,[5],[0],6,1,10268,"ARX",1,0],[454,"Acquired ichthyosis",0,5,[2],[6],8,0,18683,"",0,0],[455,"Superficial epidermolytic ichthyosis",0,5,[1],[0,1],5,1,7813,"KRT2",1,0],[457,"Harlequin ichthyosis",0,5,[0],[0],6,1,9443,"ABCA12",1,0],[461,"Recessive X-linked ichthyosis",0,5,[5],[0],2,2,10622,"STS FLG",1,0],[464,"Incontinentia pigmenti",1,5,[7],[0],3,1,10631,"IKBKG",1,0],[465,"Congenital plasminogen activator inhibitor type 1 deficiency",0,4,[0],[2,5,6,7],6,1,13227,"SERPINE1",1,0],[466,"Fatal familial insomnia",0,1,[1],[6],5,1,10808,"PRNP",0,0],[467,"Non-acquired combined pituitary hormone deficiency",4,15,[],[3],2,0,18762,"",0,0],[469,"Hereditary fructose intolerance",0,2,[0],[3],3,1,9249,"ALDOB",1,0],[470,"Lysinuric protein intolerance",0,2,[0],[0,1],3,1,9109,"SLC7A7",1,0],[472,"Isosporiasis",0,8,[2],[3],6,0,18769,"",0,0],[474,"Jeune syndrome",1,0,[0],[4,0],3,11,18770,"IFT80 DYNC2H1 TTC21B WDR19 IFT140 DYNC2I1 IFT172 DYNC2I2 CEP120 DYNC2LI1 KIAA0753",1,0],[475,"Isolated Joubert syndrome",2,3,[0],[4],3,30,18772,"AHI1 SUFU TMEM67 HYLS1 MKS1 OFD1 ARL13B INPP5E TCTN2 B9D1 TCTN1 B9D2 TMEM237 CEP41 CPLANE1 TCTN3 CSPP1 PDE6D CEP120 KIAA0586 CEP104 KATNIP IFT74 KIAA0753 ARMC9 PIBF1 ARL3 CBY1 TOGARAM1 TMEM218",3,0],[477,"KID syndrome",0,3,[1,0,2],[0],5,2,18781,"GJB2 GJB6",0,0],[478,"Kallmann syndrome",2,15,[1,0,3,5],[2,5],3,23,18800,"PROK2 PROKR2 CHD7 SOX10 FGFR1 HESX1 ANOS1 FGF8 TACR3 WDR11 DCC HS6ST1 SEMA3A IL17RD FGF17 DUSP6 SPRY4 FLRT3 FEZF1 CCDC141 CCDC141 NDNF EMX2",1,0],[480,"Kearns-Sayre syndrome",0,2,[0,6,2],[1,2,5,6],3,3,10787,"MT-TL1 MT-ATP8 RRM2B",0,0],[481,"Kennedy disease",0,1,[5],[6],3,1,10735,"AR",1,0],[482,"Kimura disease",0,14,[4],[6],5,0,18830,"",0,0],[483,"Congenital high-molecular-weight kininogen deficiency",0,4,[0],[2,6],8,1,9234,"KNG1",1,0],[485,"Kniest dysplasia",0,0,[1],[4,0,1],8,1,7987,"COL2A1",1,0],[486,"Autosomal dominant severe congenital neutropenia",0,16,[1],[0,1],8,5,8742,"TCIRG1 ELANE GFI1 CLPB SRP19",0,0],[487,"Krabbe disease",0,2,[0],[0,1,2,5,6],4,0,9499,"",1,0],[488,"Urachal cyst",6,3,[2],[0,1],8,0,18844,"",0,0],[490,"Omphalomesenteric cyst",6,3,[],[2],5,0,18847,"",0,0],[492,"Proliferating trichilemmal cyst",0,5,[],[6],8,0,18850,"",0,0],[493,"Familial keratoacanthoma",0,5,[1],[3],6,0,18851,"",0,0],[494,"Keratoderma hereditarium mutilans",0,5,[1],[1,2],5,1,7422,"GJB2",1,0],[495,"Transgrediens et progrediens palmoplantar keratoderma",0,5,[],[2],5,0,18853,"",0,0],[498,"Keratosis pilaris atrophicans",3,5,[],[],8,0,18855,"",1,0],[499,"Kerion celsi",0,5,[2],[3],8,0,10146,"",0,0],[500,"Noonan syndrome with multiple lentigines",1,3,[1],[0],5,3,7893,"PTPN11 BRAF RAF1",2,0],[501,"Lafora disease",0,1,[0],[2,5],4,2,9697,"EPM2A NHLRC1",2,0],[502,"Trichorhinophalangeal syndrome type 2",1,3,[1],[0,1,2],5,3,7874,"TRPS1 EXT1 RAD21",0,0],[503,"Larsen syndrome",1,0,[1],[4,0,1],4,1,7875,"FLNB",2,0],[504,"Creeping myiasis",0,8,[2],[],8,0,18857,"",0,0],[505,"Graham Little-Piccardi-Lassueur syndrome",0,5,[],[6],8,1,18858,"HLA-DRA",0,0],[506,"Leigh syndrome",0,2,[0,6,5],[3],3,1,9723,"IARS2",70,0],[507,"Leishmaniasis",0,8,[2],[3],2,0,11989,"",0,0],[508,"Donohue syndrome",1,15,[0],[4,0],5,1,9517,"INSR",1,0],[509,"Leptospirosis",0,8,[2],[3],4,0,5825,"",0,0],[510,"Lesch-Nyhan syndrome",0,3,[5],[1],4,1,10298,"HPRT1",1,0],[511,"Maple syrup urine disease",0,2,[0],[0,1,2],4,0,9563,"",3,0],[512,"Metachromatic leukodystrophy",0,1,[0],[1,2,5,6],3,0,18868,"",1,0],[513,"Acute lymphoblastic leukemia",3,11,[],[3],2,0,4967,"",1,0],[514,"Acute monoblastic/monocytic leukemia",0,11,[2],[2],4,0,7896,"",0,0],[517,"Acute myelomonocytic leukemia",0,11,[2],[6],4,0,18871,"",0,0],[518,"Acute megakaryoblastic leukemia",0,11,[2],[2,6],5,0,18872,"",0,0],[519,"Acute myeloid leukemia",3,11,[],[3],3,0,18874,"",10,0],[520,"Acute promyelocytic leukemia",0,11,[2],[2,5,6,7],4,13,12883,"PML PRKAR1A RARA BCOR STAT5B FIP1L1 STAT3 NPM1 NABP1 ZBTB16 NUMA1 TBL1XR1 IRF2BP2",0,0],[521,"Chronic myeloid leukemia",0,11,[2],[1,2,5,6],3,3,11996,"ABL1 RUNX1 BCR",0,0],[523,"Hereditary leiomyomatosis and renal cell cancer",0,11,[1],[5,6,7],6,1,7888,"FH",1,0],[524,"Li-Fraumeni syndrome",0,11,[1],[3],3,4,18875,"CDKN2A CHEK2 TP53 MDM2",1,0],[525,"Lichen planopilaris",0,5,[2],[6],6,0,18879,"",0,0],[526,"Liddle syndrome",0,13,[1],[1,2,5,6],6,3,8323,"SCNN1A SCNN1B SCNN1G",1,0],[528,"Congenital generalized lipodystrophy",0,15,[0],[0,1,2],4,0,18883,"",0,0],[529,"Roch-Leri mesosomatous lipomatosis",0,5,[1],[8],8,0,18884,"",0,0],[530,"Lipoid proteinosis",1,5,[0],[3],5,1,9530,"ECM1",1,0],[531,"Miller-Dieker syndrome",1,3,[1],[4,0,1],6,3,9532,"HIC1 PAFAH1B1 YWHAE",0,0],[533,"Listeriosis",0,8,[2],[3],4,0,5828,"",0,0],[534,"Oculocerebrorenal syndrome of Lowe",1,3,[5],[4,0],4,1,10645,"OCRL",1,0],[535,"Rare cutaneous lupus erythematosus",3,5,[3],[3],2,0,18887,"",0,0],[536,"Systemic lupus erythematosus",0,14,[2],[1,2,5,6],2,30,7915,"TREX1 CTLA4 HLA-DRB1 IGHG1 IL10 MECP2 FCGR3B C4A C4B CR2 BLK IRF5 PDCD1 PTPN22 STAT4 FCGR2B DNASE1 BANK1 ITGAM KIAA0319L PXK JAZF1 TNIP1 TNFAIP3 UBE2L3 TNFSF4 SPP1 IRAK1 ETS1 TLR7",5,0],[537,"Toxic epidermal necrolysis",2,5,[2],[3],6,0,18890,"",0,0],[538,"Lymphangioleiomyomatosis",0,9,[2],[6],4,2,6277,"TSC1 TSC2",1,0],[540,"Familial hemophagocytic lymphohistiocytosis",0,16,[0],[1,5],3,4,15541,"PRF1 STX11 UNC13D STXBP2",2,0],[541,"Primary cutaneous CD30+ T-cell lymphoproliferative disease",3,11,[],[6],4,0,18897,"",0,0],[542,"Primary cutaneous lymphoma",4,11,[],[],8,0,18898,"",0,0],[543,"Burkitt lymphoma",0,11,[2],[3],4,1,7243,"MYC",0,0],[544,"Diffuse large B-cell lymphoma",3,11,[3,2],[6],2,0,18905,"",0,0],[545,"Follicular lymphoma",0,11,[3,2],[6],2,4,18906,"BCL2 HLA-DRB1 BCL6 IGH",0,0],[547,"Non-Hodgkin lymphoma",4,11,[],[1,2,5,6,7],2,0,18908,"",0,0],[548,"Leprosy",0,8,[3],[3],3,0,5124,"",0,0],[549,"Legionnaires disease",0,8,[2],[3],3,0,5824,"",0,0],[550,"MELAS",0,1,[6,2],[2,5,6],4,14,10789,"MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TL1 MT-TQ MT-TW MT-TH MT-TS1 MT-TS2 MT-TF",0,0],[551,"MERRF",0,1,[6],[2,6],4,10,10790,"MT-ND5 MT-TL1 MT-TK MT-RNR1 MT-TQ MT-TH MT-TS1 MT-TS2 MT-TF MT-TP",1,0],[552,"MODY",0,15,[1,2],[2,5,6],2,13,18911,"ABCC8 CEL GCK HNF4A KCNJ11 KLF11 NEUROD1 PDX1 HNF1A INS PAX4 BLK APPL1",1,0],[556,"Malakoplakia",0,12,[4],[6],8,0,18913,"",0,0],[557,"Non-syndromic anorectal malformation",3,3,[],[4,0],2,0,18916,"",0,0],[558,"Marfan syndrome",0,14,[1],[3],2,0,7947,"",1,0],[559,"Marinesco-Sjögren syndrome",0,1,[0],[1,2],5,1,9567,"SIL1",1,0],[560,"Marshall syndrome",1,0,[1,0],[0],5,1,7949,"COL11A1",1,0],[561,"Marshall-Smith syndrome",1,3,[1],[0,1],5,1,11244,"NFIX",1,0],[562,"McCune-Albright syndrome",0,0,[2],[2],4,1,18919,"GNAS",1,0],[563,"Peripartum cardiomyopathy",0,7,[4],[6],1,0,18920,"",0,0],[564,"Meckel syndrome",1,3,[0],[4],5,17,18921,"RPGRIP1 CEP290 TMEM67 MKS1 RPGRIP1L CC2D2A TMEM216 TCTN2 B9D1 TCTN1 B9D2 TMEM237 TCTN3 TMEM231 CSPP1 TMEM107 TXNDC15",1,0],[565,"Menkes disease",0,2,[5],[0],4,1,10651,"ATP7A",1,0],[566,"Congenital microcoria",1,3,[1],[0,1],8,0,7989,"",0,0],[567,"22q11.2 deletion syndrome",1,3,[1],[3],2,10,18923,"TBX1 TBX1 ARVCF GP1BB UFD1 COMT HIRA JMJD1C RREB1 SEC24C",0,0],[568,"Microphthalmia, Lenz type",1,3,[5],[0],8,2,18924,"BCOR NAA10",0,0],[569,"Familial or sporadic hemiplegic migraine",0,1,[1],[2],2,4,18925,"SCN1A CACNA1A ATP1A2 PRRT2",0,0],[570,"Moebius syndrome",0,3,[1],[4,0],3,2,8006,"PLXND1 REV3L",2,0],[572,"Immunodeficiency by defective expression of MHC class II",0,16,[0],[0,1],5,4,8855,"RFX5 RFXANK RFXAP CIITA",4,0],[573,"Monilethrix",0,5,[1,0],[0,1],8,4,8009,"KRT81 KRT83 KRT86 DSG4",3,0],[574,"21q deletion syndrome",1,3,[],[4,0],5,0,18930,"",0,0],[575,"Muckle-Wells syndrome",0,14,[1],[0,1,2],5,1,8633,"NLRP3",0,0],[576,"Mucolipidosis type II",0,2,[0],[4,0],5,1,9650,"GNPTAB",1,0],[577,"Mucolipidosis type III",0,2,[0],[2],2,0,18931,"",1,0],[578,"Mucolipidosis type IV",0,2,[0],[1],4,1,9653,"MCOLN1",1,0],[579,"Mucopolysaccharidosis type 1",0,2,[0],[3],4,0,1586,"",1,0],[580,"Mucopolysaccharidosis type 2",0,2,[5],[2],4,0,10674,"",1,0],[581,"Mucopolysaccharidosis type 3",0,2,[0],[2],4,0,18937,"",1,0],[582,"Mucopolysaccharidosis type 4",0,2,[0],[1,2],5,0,18938,"",0,0],[583,"Mucopolysaccharidosis type 6",0,2,[0],[0,1,2,5],4,0,9661,"",1,0],[584,"Mucopolysaccharidosis type 7",0,2,[0],[4,0,1,2,5],5,1,9662,"GUSB",1,0],[585,"Multiple sulfatase deficiency",0,2,[0],[4,0,1,2,5],4,1,10088,"SUMF1",1,0],[586,"Cystic fibrosis",0,9,[0],[3],2,19,9061,"SERPINA1 CFTR TGFB1 GCLC MIF HFE SLC11A1 DCTN4 CLCA4 STX1A KCNN4 EDNRA SLC9A3 HMOX1 SLC6A14 SLC26A9 CEACAM3 CEACAM6 GSTM3",1,0],[588,"Muscle-eye-brain disease",1,3,[0],[4,0,1],8,9,18939,"POMGNT1 POMT1 POMT2 FKTN FKRP LARGE1 CRPPA B3GALNT2 GMPPB",2,0],[589,"Myasthenia gravis",0,1,[3,2],[3],3,0,9688,"",0,0],[590,"Congenital myasthenic syndrome",0,1,[1,0],[0,1],4,0,18940,"",4,0],[591,"Furuncular myiasis",0,8,[2],[3],6,0,18941,"",0,0],[592,"Macrophagic myofasciitis",0,1,[2],[2,5,6,7],8,0,18942,"",0,0],[593,"Myofibrillar myopathy",4,1,[1,0],[6],8,0,18943,"",2,0],[595,"Centronuclear myopathy",3,1,[1,0,5],[0,1,2,5,6],6,0,18947,"",1,0],[596,"X-linked centronuclear myopathy",0,1,[5],[4,0],4,1,10683,"MTM1",1,0],[597,"Central core disease",0,1,[1],[2],4,1,7294,"RYR1",1,0],[598,"Multiminicore myopathy",0,1,[1,0],[4,0,1,2],8,0,18948,"",0,0],[599,"Distal myopathy",4,1,[1,0],[3],4,0,18949,"",2,0],[600,"Vocal cord and pharyngeal distal myopathy",0,1,[1],[6],5,1,18951,"MATR3",1,0],[602,"GNE myopathy",0,1,[1,0],[5,6],3,1,11603,"GNE",1,0],[603,"Distal myopathy, Welander type",0,1,[1],[6],0,3,11466,"SQSTM1 TIA1 TIA1",1,0],[606,"Proximal myotonic myopathy",0,1,[1],[5,6,7],3,1,11266,"CNBP",1,0],[607,"Nemaline myopathy",3,1,[1,0,2],[3],3,0,18958,"",1,0],[609,"Tibial muscular dystrophy",0,1,[1,0],[6],3,1,10870,"TTN",1,0],[610,"Bethlem muscular dystrophy",0,1,[1,0],[1,2],4,4,8029,"COL6A1 COL6A2 COL6A3 COL12A1",0,0],[611,"Inclusion body myositis",0,1,[2],[6,7],4,0,7827,"",0,0],[612,"Potassium-aggravated myotonia",3,1,[1],[2],8,0,18959,"",1,0],[614,"Thomsen and Becker disease",0,1,[1,0],[1,2,5,6],3,1,9710,"CLCN1",0,0],[615,"Familial atrial myxoma",0,7,[1],[5,6],5,1,9719,"PRKAR1A",1,0],[616,"Medulloblastoma",0,11,[2],[3],3,0,7959,"",3,0],[617,"Congenital primary megaureter",6,26,[4],[0,1,2,5,6],8,0,18960,"",0,0],[618,"Familial melanoma",0,11,[1,3],[6],3,11,18961,"CDK4 CDKN2A MITF TERT MC1R BAP1 CDKN2B MGMT POT1 ACD TERF2IP",0,0],[621,"Autosomal recessive methemoglobinemia",0,4,[0],[0,1],8,2,18963,"CYB5A CYB5R3",0,0],[622,"Homocystinuria without methylmalonic aciduria",0,2,[0],[3],5,0,18964,"",0,0],[624,"Familial multiple nevi flammei",6,5,[1],[0],8,1,8094,"GNAQ",0,0],[626,"Large/giant congenital melanocytic nevus",0,5,[3],[0,1],3,7,44792,"BRAF BRAF ZEB2 RAF1 ALK NRAS SOX5",1,0],[627,"Nance-Horan syndrome",1,3,[7],[0],6,1,10545,"NHS",1,0],[628,"Diastrophic dysplasia",0,0,[0],[4,0],3,1,9107,"SLC26A2",1,0],[629,"Short stature due to growth hormone qualitative anomaly",2,15,[0],[0,1],5,1,9879,"GH1",1,0],[631,"Non-acquired isolated growth hormone deficiency",0,15,[1,0,5],[0],8,0,50,"",0,0],[632,"Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia",2,15,[5],[0,1],8,2,18967,"BTK ELF4",0,0],[633,"Laron syndrome",0,15,[0],[0,1],4,1,9877,"GHR",1,0],[634,"Netherton syndrome",0,5,[0],[0,1],4,1,9735,"SPINK5",1,0],[635,"Neuroblastoma",0,11,[2],[4,0,1,2,5],2,6,5072,"PHOX2B MYCN ALK HACE1 LIN28B LMO1",0,0],[636,"Neurofibromatosis type 1",0,1,[1],[0,1],2,0,18975,"",1,0],[637,"Full NF2-related schwannomatosis",0,18,[1],[3],3,1,7039,"NF2",1,0],[638,"Neurofibromatosis-Noonan syndrome",1,3,[1],[0,1],8,2,11035,"MAP2K2 NF1",1,0],[640,"Hereditary neuropathy with liability to pressure palsies",1,1,[1],[1,2,5,6,7],3,2,8087,"PMP22 PMP22",1,0],[641,"Multifocal motor neuropathy",0,1,[4],[6],3,0,18979,"",0,0],[642,"Hereditary sensory and autonomic neuropathy type 4",0,1,[0],[0,1,2],4,1,9746,"NTRK1",1,0],[643,"Giant axonal neuropathy",0,1,[0],[1,2],6,1,9749,"GAN",1,0],[644,"NARP syndrome",0,1,[6],[2],3,1,10794,"MT-ATP6",1,0],[646,"Niemann-Pick disease type C",0,2,[0],[3],3,0,18982,"",0,0],[647,"Nijmegen breakage syndrome",1,3,[0],[4,0,1],5,1,9623,"NBN",1,0],[648,"Noonan syndrome",1,3,[1,0],[4,0,1,2],2,15,18997,"PTPN11 BRAF SOS1 KRAS RAF1 NRAS CBL RIT1 LZTR1 RASA2 SOS2 RRAS MRAS RRAS2 SPRED2",14,0],[649,"Norrie disease",1,3,[5],[4,0],5,1,10691,"NDP",1,0],[650,"LCAT deficiency",0,15,[0],[3],5,0,18999,"",1,0],[652,"Multiple endocrine neoplasia type 1",0,11,[1,2],[3],3,3,7540,"MEN1 CDKN1B CDKN2B",1,0],[653,"Multiple endocrine neoplasia type 2",0,11,[1],[1,2,5,6],3,0,19003,"",0,0],[654,"Nephroblastoma",0,11,[1,2],[2],3,12,19004,"POU6F2 BRCA2 WT1 WT1 GPC3 H19 DIS3L2 REST TRIP13 TRIM28 TRIM28 CTR9",0,0],[655,"Nephronophthisis",0,13,[0],[4,0,1,2,5,6],3,0,19005,"",2,0],[656,"Hereditary steroid-resistant nephrotic syndrome",0,13,[1,0],[4,0,1,2,5,6],8,34,19006,"ACTN4 TRPC6 WT1 COL4A3 NPHS1 NPHS2 PAX2 PLCE1 INF2 CD2AP APOL1 MYO1E PTPRO ARHGAP24 ARHGDIA COQ8B EMP2 ANLN CRB2 KANK2 NUP107 NUP93 NUP205 LAMA5 MAGI2 GAPVD1 ANKFY1 NUP85 NUP37 NUP160 NUP133 TBC1D8B DAAM2 AVIL",0,0],[657,"Congenital isolated hyperinsulinism",3,15,[1,0],[0,1,2],3,0,19010,"",0,0],[658,"Non-histaminic angioedema",3,16,[1,2],[3],8,0,19013,"",0,0],[659,"Mutilating palmoplantar keratoderma with periorificial keratotic plaques",0,5,[1,2,5],[0,1,2],5,3,31421,"MBTPS2 TRPV3 PERP",0,0],[660,"Omphalocele",6,3,[2],[4],2,0,19015,"",0,0],[661,"Congenital central hypoventilation syndrome",0,1,[1,2],[0,1],4,6,800026,"PHOX2B BDNF EDN3 GDNF MYO1H LBX1",2,0],[662,"Lymphedema with yellow nails",0,9,[],[0,2,6],5,0,7921,"",0,0],[663,"Mitochondrial DNA-related progressive external ophthalmoplegia",0,2,[6,2],[5,6],8,4,19016,"MT-TL1 MT-TS1 MT-TL2 MT-TN",0,0],[664,"Ornithine transcarbamylase deficiency",0,2,[5],[3],3,1,10703,"OTC",1,0],[666,"Osteogenesis imperfecta",0,0,[1,0,5],[3],2,0,19019,"",5,0],[667,"Autosomal recessive malignant osteopetrosis",1,0,[0],[0,1],8,5,19026,"CLCN7 TCIRG1 TNFSF11 SNX10 OSTM1",1,0],[668,"Osteosarcoma",0,11,[2],[2],3,4,2629,"RB1 CHEK2 TP53 TP53",0,0],[671,"Primary cutis verticis gyrata",3,5,[],[3],8,0,19033,"",0,0],[672,"Pallister-Hall syndrome",1,3,[1,2],[4,0,1],5,1,7804,"GLI3",1,0],[673,"Malaria",0,8,[2],[3],3,0,5136,"",0,0],[674,"Accessory pancreas",6,3,[2],[0,1],8,0,19034,"",0,0],[675,"Annular pancreas",6,3,[1,2],[0,1],3,0,8183,"",0,0],[676,"Autosomal dominant hereditary chronic pancreatitis",0,12,[1],[2,5],4,6,8185,"PRSS1 CASR PRSS2 CTRC CPA1 TRPV6",5,0],[677,"Pancreatoblastoma",0,11,[2],[2,6],5,0,19035,"",0,0],[678,"Papillon-Lefèvre syndrome",0,5,[0],[0,1,2],4,1,9490,"CTSC",1,0],[679,"Malignant atrophic papulosis",2,5,[1],[6],5,0,11208,"",0,0],[681,"Hypokalemic periodic paralysis",0,1,[1],[2,5],3,3,8223,"SCN4A CACNA1S KCNE3",0,0],[682,"Hyperkalemic periodic paralysis",0,1,[1],[2],4,1,8224,"SCN4A",1,0],[683,"Progressive supranuclear palsy",0,1,[2],[6,7],3,0,19037,"",0,0],[684,"Paramyotonia congenita of Von Eulenburg",0,1,[1],[0,1,2,5],4,1,8195,"SCN4A",1,0],[685,"Hereditary spastic paraplegia",3,1,[1,0,5],[3],3,0,19064,"",10,0],[699,"Pearson syndrome",0,2,[6,2],[0,1,2],5,0,10797,"",0,0],[700,"Alopecia totalis",0,5,[3],[3],8,0,19080,"",0,0],[701,"Alopecia universalis",0,5,[0,3],[3],2,1,8757,"HR",1,0],[702,"Pelizaeus-Merzbacher disease",0,1,[7,5],[3],4,0,10714,"",1,0],[703,"Bullous pemphigoid",0,5,[2],[3],2,2,19082,"HLA-DRB1 HLA-DQB1",0,0],[704,"Pemphigus vulgaris",0,5,[2],[2,6,7],2,0,8219,"",0,0],[705,"Pendred syndrome",1,18,[0],[0,1],3,3,10134,"SLC26A4 KCNJ10 FOXI1",1,0],[707,"Plague",0,8,[],[3],3,0,19095,"",0,0],[708,"Peters anomaly",6,3,[1,0],[0,1],5,5,11414,"PITX2 CYP1B1 FOXC1 FOXE3 PAX6",1,0],[709,"Peters plus syndrome",1,3,[0],[4,0],5,1,9856,"B3GLCT",1,0],[710,"Pfeiffer syndrome",1,3,[1],[4,0],3,0,7043,"",2,0],[712,"Hemolytic anemia due to glucophosphate isomerase deficiency",0,4,[0],[0,1],5,1,13275,"GPI",1,0],[713,"Glycogen storage disease due to phosphoglycerate kinase 1 deficiency",0,2,[5],[2,5,6],5,1,10392,"PGK1",1,0],[714,"Hemolytic anemia due to diphosphoglycerate mutase deficiency",0,4,[0],[1],6,1,9113,"BPGM",1,0],[715,"Glycogen storage disease due to muscle phosphorylase kinase deficiency",0,2,[0,5],[5,6],5,2,10362,"PHKA1 PHKG1",1,0],[716,"Phenylketonuria",0,2,[0],[1],3,0,9861,"",1,0],[718,"Isolated Pierre Robin sequence",1,3,[1,3,2,4],[4,0],3,1,9869,"SOX9",1,0],[720,"Pili bifurcati",0,5,[],[2],8,0,19120,"",0,0],[721,"Gray platelet syndrome",0,4,[1,0],[2],5,1,7686,"NBEAL2",1,0],[722,"Hypoplasminogenemia",0,4,[0],[3],4,1,9009,"PLG",1,0],[723,"Pneumocystosis",0,8,[2],[3],6,0,19121,"",0,0],[724,"Idiopathic acute eosinophilic pneumonia",0,9,[4],[3],5,0,19122,"",0,0],[725,"Developmental and epileptic encephalopathy with spike-wave activation in sleep",0,1,[1,2],[2],6,1,19123,"GRIN2A",0,0],[726,"Alpers-Huttenlocher syndrome",0,2,[0],[1,2,5,6],4,1,8758,"POLG",1,0],[727,"Microscopic polyangiitis",0,14,[2],[2,6],3,0,19124,"",0,0],[728,"Relapsing polychondritis",0,14,[4],[3],4,0,19125,"",0,0],[729,"Polycythemia vera",0,4,[2],[3],2,1,9891,"JAK2",0,0],[730,"Autosomal dominant polycystic kidney disease",0,13,[1],[2,5,6],2,9,4691,"PKD1 PKD2 ALG9 NEK8 BICC1 IFT140 GANAB DNAJB11 ALG5",8,0],[731,"Autosomal recessive polycystic kidney disease",0,13,[0],[3],3,2,9889,"PKHD1 DZIP1L",3,0],[732,"Polymyositis",0,14,[2],[6,7],3,0,19127,"",0,0],[733,"Familial adenomatous polyposis",0,12,[1,0],[6],3,1,21055,"APC",0,0],[734,"Alpha delta granule deficiency",0,4,[1,0],[0,1,2],6,1,8495,"GFI1B",0,0],[735,"Porokeratosis of Mibelli",0,5,[1,2],[2,5,6],6,2,19141,"MVK PMVK",0,0],[737,"Porokeratosis plantaris palmaris et disseminata",0,5,[1,7],[5,6],6,0,8291,"",0,0],[738,"Porphyria",3,2,[1,0],[3],4,0,19142,"",0,0],[739,"Prader-Willi syndrome",0,3,[1,2],[4,0],3,0,8300,"",1,0],[740,"Hutchinson-Gilford progeria syndrome",0,3,[1,0],[0,1],5,2,8310,"ZMPSTE24 LMNA",1,0],[741,"Familial mitral valve prolapse",6,3,[1],[],8,1,8004,"DCHS1",0,0],[742,"Prolidase deficiency",0,2,[0],[0,1,2,5,6],5,1,8221,"PEPD",1,0],[743,"Severe hereditary thrombophilia due to congenital protein S deficiency",0,4,[0],[0,1],6,1,19144,"PROS1",0,0],[744,"Proteus syndrome",1,3,[2],[1],5,1,8318,"AKT1",1,0],[745,"Severe hereditary thrombophilia due to congenital protein C deficiency",0,4,[1,0],[0],4,1,19145,"PROC",1,0],[746,"Mitochondrial trifunctional protein deficiency",0,2,[0],[0,1],3,2,12172,"HADHA HADHB",2,0],[747,"Autoimmune pulmonary alveolar proteinosis",0,9,[3,2],[2,5,6],4,1,12579,"HLA-DRB1",0,0],[748,"Mendelian susceptibility to mycobacterial diseases",3,16,[1,0,5],[3],8,0,19146,"",1,0],[749,"Congenital prekallikrein deficiency",0,4,[0],[0,1],5,1,12901,"KLKB1",1,0],[750,"Pseudoachondroplasia",0,0,[1],[0,1],8,1,8322,"COMP",1,0],[752,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",0,3,[0],[0,5],4,1,9916,"HSD17B3",1,0],[753,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency",0,3,[0],[0,1,2,5],6,1,9923,"SRD5A2",1,0],[754,"Androgen insensitivity syndrome",3,15,[5],[4,0],3,0,19154,"",1,0],[755,"Leydig cell hypoplasia",0,3,[],[0],5,0,19155,"",0,0],[756,"Pseudohypoaldosteronism type 1",0,13,[1,0],[0,1],3,0,19161,"",0,0],[757,"Pseudohypoaldosteronism type 2",0,13,[1,0],[3],6,0,19162,"",0,0],[758,"Pseudoxanthoma elasticum",0,5,[0],[3],3,2,9925,"ABCC6 ENPP1",1,0],[760,"Purine nucleoside phosphorylase deficiency",0,16,[0],[1,2,5],5,1,13171,"PNP",1,0],[761,"Immunoglobulin A vasculitis",0,14,[2],[2],1,0,19167,"",0,0],[763,"Pycnodysostosis",0,0,[0],[1,2,5,6],4,1,9940,"CTSK",1,0],[764,"Pyomyositis",0,8,[2],[3],8,0,19168,"",0,0],[765,"Pyruvate dehydrogenase deficiency",0,2,[0,2,7],[0,1,2],5,0,19169,"",0,0],[766,"Hemolytic anemia due to red cell pyruvate kinase deficiency",0,4,[0],[0,1],3,1,9950,"PKLR",1,0],[767,"Polyarteritis nodosa",0,14,[2],[3],3,0,19170,"",1,0],[768,"Congenital long QT syndrome",3,7,[1,0],[2,5,6],6,0,19171,"",2,0],[769,"Rabson-Mendenhall syndrome",1,15,[0],[4,0,1,2],5,1,9874,"INSR",1,0],[770,"Rabies",0,8,[2],[3],4,0,19173,"",0,0],[772,"Infantile Refsum disease",0,2,[0],[3],8,13,19174,"PEX2 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX26 PEX3 PEX5 PEX6 PEX11B",0,0],[773,"Adult Refsum disease",0,1,[0],[2,5,6],4,2,9958,"PHYH PEX7",1,0],[774,"Hereditary hemorrhagic telangiectasia",0,3,[1],[3],2,4,19180,"ACVRL1 SMAD4 ENG GDF2",1,0],[776,"Lujan-Fryns syndrome",1,3,[5],[0,1],8,3,10655,"MED12 ZDHHC9 UPF3B",1,0],[777,"X-linked non-syndromic intellectual disability",7,1,[5],[1,2],8,30,19181,"ACSL4 RPS6KA3 DMD ARX FTSJ1 GDI1 MECP2 MED12 UPF3B AGTR2 DLG3 IL1RAPL1 CASK TSPAN7 ARHGEF6 ZNF81 RAB39B SYP ZNF711 HCFC1 ALG13 MID2 PTCHD1 USP9X CNKSR2 CLCN4 FRMPD4 USP27X SLC9A7 STEEP1",9,0],[778,"Rett syndrome",0,1,[7],[1],2,1,10726,"MECP2",1,0],[779,"Reynolds syndrome",0,14,[2],[6],6,1,13276,"LBR",0,0],[780,"Rhabdomyosarcoma",0,11,[3],[2],4,0,5212,"",8,0],[781,"Q fever",0,8,[2],[3],4,0,19186,"",0,0],[782,"Axenfeld-Rieger syndrome",1,3,[1],[0,1],4,3,19187,"PITX2 PITX2 FOXC1",0,0],[783,"Rubinstein-Taybi syndrome",1,3,[1,4],[4,0],3,0,19188,"",2,0],[785,"Estrogen resistance syndrome",0,15,[0],[5],5,1,14148,"ESR1",1,0],[786,"Generalized glucocorticoid resistance syndrome",0,15,[1,0,2],[3],6,1,14421,"NR3C1",1,0],[790,"Retinoblastoma",0,11,[1,2],[4,1,2],3,0,8380,"",1,0],[791,"Retinitis pigmentosa",0,10,[1,0,6,5],[2,5,6],2,97,19200,"HKDC1 CA4 FSD1L SAXO6 RNU6-1 RNU6-2 RNU6-8 RNU6-9 CFAP20 ABCA4 POMGNT1 PRCD PRPF3 PRPF31 PRPF8 PRPH2 RDH12 RGR RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG BBS1 BBS2 BEST1 RNU4-2 CERKL AHI1 TTC8 TULP1 USH2A CLRN1 CNGA1 CRB1 CRX ARL6 FSCN2 HGSNAT IMPDH1 MERTK NR2E3 NRL OFD1 PDE6A PDE6B SEMA4A CNGB1 TOPORS CC2D2A PROM1 LRAT EYS IDH3B SPATA7 GUCA1B KLHL7 TMEM216 SNRNP200 PCARE PDE6G IMPG2 FAM161A ZNF513 CDHR1 RP1L1 DHDDS PRPF6 IFT43 MAK RBP3 CFAP418 IFT140 KIAA1549 ZNF408 ARL2BP NEK2 IFT172 IMPG1 COQ8B TUB KIZ SLC7A14 PRPF4 AGBL5 DHX38 REEP6 ARHGEF18 IFT88 SCAPER ARL3 AHR IDH3A",13,0],[792,"X-linked retinoschisis",1,10,[5],[1,2,5,6],3,1,10725,"RS1",1,0],[793,"SAPHO syndrome",0,14,[3,2],[5,6,7],6,0,19266,"",0,0],[794,"Saethre-Chotzen syndrome",1,3,[1],[4,0],3,3,7042,"TWIST1 FGFR3 FGFR2",2,0],[795,"Rare form of salmonellosis",4,8,[2],[3],8,0,827,"",0,0],[796,"Sandhoff disease",0,2,[0],[1,2,5,6],4,0,10006,"",1,0],[797,"Sarcoidosis",0,14,[3],[2,5,6,7],2,2,19338,"HLA-DRB1 BTNL2",0,0],[798,"Schinzel-Giedion syndrome",1,3,[1,2],[4,0,1],5,1,10010,"SETBP1",1,0],[799,"Schizencephaly",0,3,[1,0],[3],3,0,10011,"",1,0],[800,"Schwartz-Jampel syndrome",0,0,[0],[0,1],5,1,9717,"HSPG2",0,0],[801,"Scleroderma",3,5,[2],[3],2,0,19340,"",0,0],[803,"Amyotrophic lateral sclerosis",0,1,[1,0,3,7],[6],3,33,4976,"LRP12 ATXN2 CHMP2B SOD1 TREM2 VAPB VCP NEFH OPTN DCTN1 TARDBP FIG4 FUS ANG GLE1 MATR3 PRPH DAO NEK1 SQSTM1 UBQLN2 C9ORF72 PFN1 TBK1 HNRNPA1 TAF15 ERBB4 UNC13A CHCHD10 CFAP410 CCNF ANXA11 GLT8D1",9,0],[805,"Tuberous sclerosis complex",0,3,[1],[3],3,3,1734,"TSC1 TSC2 IFNG",0,0],[806,"Scott syndrome",0,4,[0],[3],5,1,9885,"ANO6",1,0],[808,"Seckel syndrome",1,0,[0],[4],2,15,19342,"ATR CPAP PCNT CEP152 CEP63 RBBP8 ATRIP NIN DNA2 CENPE PLK4 NSMCE2 TRAIP NUP85 CEP295",0,0],[809,"Mixed connective tissue disease",0,14,[3],[2,5,6],3,0,5854,"",0,0],[810,"Shigellosis",0,8,[2],[3],3,0,19345,"",0,0],[811,"Shwachman-Diamond syndrome",0,4,[0],[4,0,1,2],4,3,9833,"SBDS DNAJC21 EFL1",2,0],[812,"Sialidosis type 1",0,2,[0],[2,5],5,1,19346,"NEU1",0,0],[813,"Silver-Russell syndrome",0,3,[1,2],[4,0],4,0,8394,"",0,0],[816,"Sjögren-Larsson syndrome",0,5,[0],[0,1],2,1,10031,"ALDH3A2",1,0],[817,"Peeling skin syndrome",3,5,[0],[0,1],8,0,19347,"",0,0],[818,"Smith-Lemli-Opitz syndrome",1,3,[0],[4,0,1],3,1,10035,"DHCR7",1,0],[819,"Smith-Magenis syndrome",1,3,[1],[0,1,2,5,6],3,1,8434,"RAI1",1,0],[820,"Sneddon syndrome",0,14,[1,2],[6],4,1,8436,"ADA2",1,0],[821,"Sotos syndrome",0,3,[1,0],[4,0],4,2,19349,"NSD1 APC2",1,0],[822,"Hereditary spherocytosis",0,4,[1,0],[3],2,5,19350,"SLC4A1 SPTA1 SPTB ANK1 EPB42",1,0],[823,"Spina bifida and other spinal dysraphisms",4,3,[3,2],[0,1],2,0,19351,"",0,0],[824,"Primary myelofibrosis",0,11,[2],[6],3,4,9692,"JAK2 MPL TET2 CALR",0,0],[826,"Sporotrichosis",0,8,[2],[3],0,0,5968,"",0,0],[827,"Stargardt disease",0,10,[1,0],[2,5,6,7],2,5,19353,"ABCA4 PRPH2 CNGB3 ELOVL4 PROM1",0,0],[828,"Stickler syndrome",0,0,[1,0],[4,0,1,2],3,0,19354,"",4,0],[829,"Adult-onset Still disease",0,14,[2],[6,7],3,0,19355,"",0,0],[831,"Congenital cervical spinal stenosis",0,1,[],[5,6],8,0,19357,"",0,0],[832,"Succinyl-CoA:3-oxoacid CoA transferase deficiency",0,2,[0],[0,1],5,1,9492,"OXCT1",1,0],[833,"Encephalopathy due to sulfite oxidase deficiency",0,2,[0],[4,0,1],6,0,19358,"",0,0],[834,"Free sialic acid storage disease",0,2,[0],[4,0,1],5,0,19366,"",1,0],[838,"Susac syndrome",0,14,[4],[3],6,0,19390,"",0,0],[839,"Congenital nephrotic syndrome, Finnish type",0,13,[0],[4,0,1],2,1,9732,"NPHS1",1,0],[840,"Syringocystadenoma papilliferum",0,5,[4],[0,1,2,5],5,1,19392,"BRAF",0,0],[841,"Sebocystomatosis",0,5,[1,2],[2,5,6],8,1,8485,"KRT17",1,0],[842,"Testicular seminomatous germ cell tumor",0,11,[2],[6],3,1,3669,"KIT",0,0],[845,"Tay-Sachs disease",0,2,[0],[3],4,0,10100,"",1,0],[846,"Alpha-thalassemia",3,4,[0],[3],2,0,11399,"",2,0],[847,"X-linked alpha-thalassemia-intellectual disability syndrome",1,3,[5],[0,1],6,1,10519,"ATRX",1,0],[848,"Beta-thalassemia",3,4,[1,0],[1,2],3,0,19402,"",1,0],[849,"Glanzmann thrombasthenia",0,4,[0],[0,1],8,2,100326,"ITGA2B ITGB3",2,0],[851,"Paris-Trousseau thrombocytopenia",0,4,[],[0,1],5,1,8557,"FLI1",0,0],[852,"X-linked isolated thrombocytopenia with normal platelets size",7,4,[5],[],8,1,10743,"WAS",1,0],[853,"Fetal and neonatal alloimmune thrombocytopenia",0,4,[2],[4,0],2,6,19415,"GP1BA GP1BB ITGA2B ITGB3 ITGA2 CD109",0,0],[854,"Non-malignant and non-cirrhotic portal vein thrombosis",9,17,[2],[3],3,0,19431,"",0,0],[857,"Townes-Brocks syndrome",1,3,[1],[3],4,2,7142,"SALL1 DACT1",0,0],[858,"Congenital toxoplasmosis",0,3,[2],[4,0,1],2,0,5715,"",0,0],[859,"Transcobalamin II deficiency",0,4,[0],[0,1],5,1,10149,"TCN2",1,0],[860,"Congenitally uncorrected transposition of the great arteries",6,3,[3,2],[4,0,1],2,0,19443,"",0,0],[861,"Treacher-Collins syndrome",1,3,[1,0],[4,0],3,4,2457,"TCOF1 POLR1D POLR1C POLR1B",1,0],[863,"Trichinellosis",0,8,[2],[3],5,0,19444,"",0,0],[864,"Trichofolliculoma",0,5,[2],[6],8,0,19445,"",0,0],[867,"Familial multiple trichoepithelioma",2,5,[1],[2],8,1,11114,"CYLD",0,0],[868,"Triose phosphate-isomerase deficiency",0,2,[0],[0],5,1,14221,"TPI1",1,0],[869,"Triple A syndrome",0,15,[0],[3],5,3,9279,"AAAS TRAPPC11 GMPPA",2,0],[870,"Down syndrome",1,3,[2],[4,0],2,0,8608,"",0,0],[871,"Hereditary progressive cardiac conduction defect",0,7,[1],[6],6,4,19490,"SCN1B SCN5A NKX2-5 TRPM4",0,0],[873,"Desmoid tumor",0,11,[2,4],[5,6],4,2,7608,"CTNNB1 APC",1,0],[874,"Primary adult heart tumor",0,11,[2],[6],6,0,19493,"",0,0],[875,"Primary pediatric heart tumor",0,11,[2],[2],8,0,19494,"",0,0],[876,"Yolk sac tumor",0,11,[2],[5,6],6,0,5744,"",0,0],[877,"Neuroendocrine neoplasm",4,11,[4],[6],3,0,19496,"",0,0],[879,"Tungiasis",0,8,[2],[3],8,0,19498,"",0,0],[881,"Turner syndrome",1,3,[2,4],[4,0,1,2],3,0,19499,"",0,0],[882,"Tyrosinemia type 1",0,2,[0],[3],4,1,10161,"FAH",1,0],[883,"Extragonadal teratoma",0,11,[],[],8,0,19500,"",0,0],[884,"Pallister-Killian syndrome",1,3,[2,4],[4,0],3,0,11146,"",0,0],[886,"Usher syndrome",0,3,[0],[0,1,2],3,0,19501,"",0,0],[887,"VACTERL/VATER association",1,3,[2],[4,0],3,1,8642,"HOXD13",0,0],[888,"Van der Woude syndrome",1,3,[1,2],[4,0],3,2,19508,"IRF6 GRHL3",0,0],[889,"Cutaneous small vessel vasculitis",0,14,[2],[3],3,0,19509,"",0,0],[890,"Hepatic veno-occlusive disease",0,17,[2],[3],6,0,19514,"",0,0],[891,"Familial exudative vitreoretinopathy",0,10,[1,0,5],[0,1],8,6,19516,"CTNNB1 FZD4 LRP5 NDP TSPAN12 ZNF408",1,0],[892,"Von Hippel-Lindau disease",0,11,[1],[2,5,6],3,2,8667,"CCND1 VHL",1,0],[893,"WAGR syndrome",1,3,[1],[4,0],4,3,8681,"BDNF WT1 PAX6",0,0],[894,"Waardenburg syndrome type 1",2,3,[1],[0],6,1,8670,"PAX3",1,0],[895,"Waardenburg syndrome type 2",2,3,[1],[0],5,6,19517,"SNAI2 SOX10 TYR EDNRB MITF KITLG",1,0],[896,"Waardenburg syndrome type 3",2,3,[1,0],[0],6,1,7862,"PAX3",1,0],[897,"Waardenburg-Shah syndrome",0,3,[1,0],[0],5,4,19518,"SOX10 EDN3 EDNRB MITF",1,0],[898,"Wagner disease",0,3,[1,0],[2],5,1,7740,"VCAN",1,0],[899,"Walker-Warburg syndrome",0,3,[0],[4,0,1],4,14,171,"POMGNT1 POMT1 POMT2 COL4A1 FKTN FKRP LARGE1 DAG1 CRPPA POMGNT2 RXYLT1 B3GALNT2 B4GAT1 POMK",0,0],[900,"Granulomatosis with polyangiitis",0,14,[2],[2,5,6,7],3,5,12105,"PRTN3 CTLA4 PTPN22 HLA-DPB1 HLA-DPA1",0,0],[901,"Wells syndrome",0,5,[2],[6],5,0,19547,"",0,0],[902,"Werner syndrome",0,3,[0],[5,6],4,1,10196,"WRN",1,0],[903,"Von Willebrand disease",0,4,[1,0],[3],2,0,19565,"",1,0],[904,"Williams syndrome",1,3,[1],[4,0],2,18,8678,"RFC2 BAZ1B TBL2 CLIP2 ELN GTF2I GTF2IRD1 LIMK1 NCF1 STX1A FKBP6 VPS37D DNAJC30 EIF4H BUD23 METTL27 TMEM270 GTF2IRD2",0,0],[905,"Wilson disease",0,17,[0],[2,5,6,7],3,1,10200,"ATP7B",1,0],[906,"Wiskott-Aldrich syndrome",0,16,[1,0,2,5],[0,1],4,1,10518,"WAS",1,0],[908,"Fragile X syndrome",1,3,[7],[0,1,2],2,1,10383,"FMR1",1,0],[909,"Cerebrotendinous xanthomatosis",0,2,[0],[0,1],3,1,8948,"CYP27A1",1,0],[910,"Xeroderma pigmentosum",0,5,[0],[3],4,7,19600,"XPA XPC DDB2 ERCC2 ERCC4 ERCC3 ERCC5",0,0],[911,"Combined immunodeficiency due to ZAP70 deficiency",0,16,[0],[2],8,1,10023,"ZAP70",1,0],[912,"Zellweger syndrome",0,2,[0],[0],3,13,19609,"PEX2 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX26 PEX3 PEX5 PEX6 PEX11B",0,0],[913,"Zollinger-Ellison syndrome",0,15,[2],[6,7],4,0,19610,"",0,0],[915,"Aarskog-Scott syndrome",1,3,[1,0,5],[2],4,1,21005,"FGD1",0,0],[916,"Aase-Smith syndrome type 1",1,3,[1],[],5,0,7839,"",0,0],[920,"Ablepharon macrostomia syndrome",1,3,[1],[4,0],5,1,8693,"TWIST2",1,0],[921,"Abruzzo-Erickson syndrome",1,3,[5],[4],5,1,10554,"TBX22",0,0],[922,"Familial nasal acilia",0,18,[],[0],5,0,19634,"",0,0],[926,"Acatalasemia",0,2,[0],[3],3,1,13571,"CAT",1,0],[927,"Hyperammonemia due to N-acetylglutamate synthase deficiency",0,2,[0],[3],5,1,9377,"NAGS",1,0],[929,"Achalasia-microcephaly syndrome",1,3,[0],[0],5,0,8699,"",0,0],[930,"Idiopathic achalasia",0,12,[0,2],[3],3,4,19635,"CRLF1 HLA-DQA1 HLA-DQB1 NOS1",0,0],[931,"Isolated acheiropodia",6,3,[0],[4,0],5,1,8700,"LMBR1",1,0],[932,"Achondrogenesis",0,0,[1,0],[4,0],3,0,19648,"",0,0],[935,"Short-limb skeletal dysplasia with severe combined immunodeficiency",0,16,[2],[0,1],5,0,8704,"",0,0],[939,"3-hydroxyisobutyric aciduria",0,2,[],[4,0],5,0,9371,"",0,0],[941,"D-glyceric aciduria",0,2,[0],[3],8,1,9070,"GLYCTK",1,0],[943,"Malonic aciduria",0,2,[0],[2],5,1,9556,"MLYCD",1,0],[945,"Acalvaria",1,3,[2],[4,0],4,0,19795,"",0,0],[949,"Acrocraniofacial dysostosis",1,3,[0],[4,0],5,0,8712,"",0,0],[950,"Acrodysostosis",1,0,[1],[4,0],7,2,19797,"PRKAR1A PDE4D",0,0],[952,"Acrofacial dysostosis, Weyers type",1,3,[1],[0],8,3,8673,"CTNNB1 EVC EVC2",2,0],[955,"Hajdu-Cheney syndrome",1,0,[1],[1,2],5,1,7057,"NOTCH2",1,0],[957,"Acropectorovertebral dysplasia",1,3,[1],[4,0],5,0,7058,"",0,0],[958,"Acro-renal-mandibular syndrome",1,3,[0],[4,0],5,0,8707,"",0,0],[959,"Acro-renal-ocular syndrome",1,3,[1],[4,0],5,1,11812,"SALL4",1,0],[963,"Acromegaly",0,15,[2],[1,2,5,6,7],3,2,19933,"AIP GPR101",0,0],[968,"Acromesomelic dysplasia, Hunter-Thompson type",1,0,[0],[4,0],5,1,8717,"GDF5",0,0],[969,"Acromicric dysplasia",1,0,[1],[0],5,2,7055,"FBN1 LTBP3",1,0],[970,"Hereditary sensory and autonomic neuropathy type 2",0,1,[0],[0,1],5,4,19941,"SCN9A WNK1 RETREG1 KIF1A",0,0],[971,"Acrorenal syndrome",1,3,[0],[0],5,0,7059,"",0,0],[972,"Hereditary continuous muscle fiber activity",0,1,[1],[1,2],5,1,19943,"KCNA1",0,0],[973,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral",6,3,[1,2],[4,0],5,0,7062,"",0,0],[974,"Adams-Oliver syndrome",1,3,[1,0],[4,0],4,6,7034,"NOTCH1 ARHGAP31 DOCK6 RBPJ EOGT DLL4",2,0],[976,"Adenine phosphoribosyltransferase deficiency",0,13,[0],[1,2,5,6,7],3,1,13869,"APRT",1,0],[977,"Adrenomyodystrophy",0,15,[4],[0,1],5,0,10288,"",0,0],[978,"ADULT syndrome",1,3,[1],[4,0],5,1,7072,"TP63",1,0],[980,"Absence of the pulmonary artery",6,3,[2],[3],4,0,20007,"",0,0],[981,"Internal carotid absence",6,3,[2],[3],5,0,20048,"",0,0],[982,"Pulmonary valve agenesis",3,3,[2],[0,1],8,0,20064,"",0,0],[983,"Testicular regression syndrome",6,3,[0],[0],8,1,8000015,"DHX37",1,0],[984,"Pulmonary agenesis",6,3,[],[],8,0,20110,"",0,0],[988,"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome",1,3,[1,0],[4,0],5,2,8572,"SHH LMBR1",0,0],[989,"Hypoglossia-hypodactyly syndrome",1,3,[4],[4,0],5,0,7073,"",0,0],[990,"Agnathia-holoprosencephaly-situs inversus syndrome",1,3,[1,0,2],[4,0],8,2,8740,"OTX2 PRRX1",2,0],[991,"PAGOD syndrome",1,3,[2],[0],5,0,8741,"",0,0],[994,"Fetal akinesia deformation sequence",1,3,[0],[4,0],4,10,100101,"RAPSN DOK7 KIF21A MAGEL2 TUBA1A MUSK MYOD1 SLC18A3 NUP88 GLDN",1,0],[998,"Albinism-deafness syndrome",1,3,[5],[0],5,0,10403,"",0,0],[999,"Ermine phenotype",1,3,[0],[0],5,0,9196,"",0,0],[1000,"Ocular albinism with late-onset sensorineural deafness",0,10,[5],[6],5,1,10390,"AP3D1",0,0],[1001,"2q37 microdeletion syndrome",1,3,[1,2],[0],5,1,10886,"HDAC4",0,0],[1003,"Scalp defects-postaxial polydactyly syndrome",1,3,[1],[0],5,0,8403,"",0,0],[1005,"Alopecia-contractures-dwarfism-intellectual disability syndrome",1,3,[0],[4,0],5,0,8754,"",0,0],[1006,"Alopecia antibody deficiency",0,5,[4],[1,2],5,0,15082,"",0,0],[1008,"Alopecia-epilepsy-pyorrhea-intellectual disability syndrome",0,3,[1],[],8,0,7085,"",0,0],[1010,"Autosomal dominant palmoplantar keratoderma and congenital alopecia",0,5,[1],[0,1],5,1,7083,"GJA1",1,0],[1014,"Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome",0,3,[4],[0],5,0,11019,"",0,0],[1018,"X-linked Alport syndrome-diffuse leiomyomatosis",2,13,[7],[2,5,6],6,2,10641,"COL4A5 COL4A6",0,0],[1020,"Early-onset autosomal dominant Alzheimer disease",0,1,[1],[6],8,6,15140,"PSEN1 PSEN2 TREM2 APP SORL1 TOMM40",0,0],[1021,"Amaurosis-hypertrichosis syndrome",0,10,[0],[0],5,0,8766,"",0,0],[1023,"Congenital generalized hypertrichosis, Ambras type",2,5,[4],[0],5,0,7787,"",0,0],[1028,"Amelo-onycho-hypohidrotic syndrome",1,3,[],[8],5,0,7095,"",0,0],[1031,"Enamel-renal syndrome",1,13,[0],[2],5,1,8771,"FAM20A",1,0],[1035,"Beta-mercaptolactate cysteine disulfiduria",8,2,[],[8],5,0,9585,"",0,0],[1037,"Arthrogryposis multiplex congenita",3,3,[1,0,2,5],[0],3,0,15168,"",3,0],[1040,"Metaphyseal anadysplasia",0,0,[1,0],[0,1],5,3,15177,"MMP13 MMP13 MMP9",0,0],[1041,"Hydrops fetalis",1,3,[2],[4],0,0,15193,"",2,0],[1046,"Lethal hemolytic anemia-genital anomalies syndrome",1,3,[4],[0],5,0,10891,"",0,0],[1047,"Sideroblastic anemia",4,4,[1,0,6,2,7,5],[3],8,0,15194,"",0,0],[1048,"Isolated anencephaly/exencephaly",6,3,[3,2],[0,1],3,0,8791,"",0,0],[1051,"Ramos-Arroyo syndrome",1,3,[1],[0,1],5,0,7382,"",0,0],[1052,"Mosaic variegated aneuploidy syndrome",1,3,[1,0],[4,0],5,5,141,"BUB1B CEP57 BUB1 BUB3 TRIP13",0,0],[1053,"Vein of Galen malformation",6,3,[2],[4,0,1],8,1,15196,"EPHB4",0,0],[1054,"Aneurysm of sinus of Valsalva",6,3,[4],[6],8,0,15197,"",0,0],[1055,"Congenital left ventricular aneurysm",1,3,[],[4,0],6,0,21690,"",0,0],[1059,"Blue rubber bleb nevus syndrome",1,3,[1,2],[2],3,1,7203,"TEK",0,0],[1062,"Hereditary neurocutaneous malformation",0,1,[1],[1,2],5,0,7116,"",0,0],[1063,"Tufted angioma",0,23,[3,2],[3],6,1,11927,"GNA14",0,0],[1064,"Aniridia-renal agenesis-psychomotor retardation syndrome",1,3,[0],[0],5,0,8796,"",0,0],[1065,"Aniridia-cerebellar ataxia-intellectual disability syndrome",1,3,[1,0,2],[0,1],5,2,8795,"PAX6 ITPR1",1,0],[1067,"Aniridia-ptosis-intellectual disability-familial obesity syndrome",1,3,[1],[2],5,0,15198,"",0,0],[1068,"Aniridia-intellectual disability syndrome",1,3,[1],[2],5,0,15199,"",0,0],[1069,"Aniridia-absent patella syndrome",1,3,[1],[4,0],5,0,7120,"",0,0],[1070,"Anisakiasis",0,8,[],[2,5,6,7],4,0,15200,"",0,0],[1071,"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome",1,3,[1],[0],8,0,7124,"",1,0],[1072,"Ankyloblepharon filiforme adnatum-cleft palate syndrome",2,3,[1],[0],8,1,7123,"TP63",0,0],[1074,"Ankyloblepharon filiforme adnatum-imperforate anus syndrome",2,3,[4],[0],5,0,15201,"",0,0],[1077,"Dental ankylosis",1,6,[],[2,5,6,7],8,0,8007,"",0,0],[1078,"Thumb stiffness-brachydactyly-intellectual disability syndrome",1,3,[1],[0,1],5,0,8563,"",0,0],[1081,"Coronary artery congenital malformation",4,3,[],[],8,0,15203,"",0,0],[1083,"Microlissencephaly",6,3,[0],[0,1],8,0,15204,"",0,0],[1084,"Isolated lissencephaly type 1 without known genetic defects",0,3,[4],[0,1],6,0,15205,"",0,0],[1094,"Anonychia-microcephaly syndrome",1,3,[0],[0],5,0,11795,"",0,0],[1101,"Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome",1,3,[0],[0,1],5,0,15230,"",0,0],[1104,"Anophthalmia plus syndrome",1,3,[0],[4,0],5,0,10930,"",0,0],[1106,"Microphthalmia with limb anomalies",1,3,[0],[4,0],5,1,8800,"SMOC1",1,0],[1110,"Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome",1,3,[1],[0,1],5,0,7143,"",0,0],[1112,"Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome",1,3,[0],[0],5,0,8806,"",0,0],[1113,"Aphalangy-syndactyly-microcephaly syndrome",1,3,[1],[4,0],5,0,10882,"",0,0],[1114,"Aplasia cutis congenita",1,5,[1,0,2],[4,0],2,5,7145,"PLEC ITGB4 BMS1 DLL4 UBA2",1,0],[1116,"Aplasia cutis congenita-intestinal lymphangiectasia syndrome",0,3,[0],[0],5,0,8808,"",0,0],[1117,"Aplasia cutis-myopia syndrome",0,3,[0],[0],5,0,10988,"",0,0],[1118,"Fibular aplasia-ectrodactyly syndrome",1,3,[1],[0],5,0,7225,"",0,0],[1120,"Lung agenesis-heart defect-thumb anomalies syndrome",1,3,[],[4],5,0,11116,"",0,0],[1121,"Radial deficiency-tibial hypoplasia syndrome",1,3,[],[4],5,0,15232,"",0,0],[1122,"Ulnar hypoplasia-split foot syndrome",1,3,[],[0],5,0,10750,"",0,0],[1123,"Caudal appendage-deafness syndrome",1,3,[],[0],5,0,15233,"",0,0],[1125,"Ocular motor apraxia, Cogan type",0,10,[0],[2],5,0,9764,"",1,0],[1126,"Aprosencephaly cerebellar dysgenesis",1,3,[],[4],5,0,11062,"",0,0],[1129,"Arachnodactyly-abnormal ossification-intellectual disability syndrome",1,3,[4],[0,1],5,0,15234,"",0,0],[1130,"Arachnodactyly-intellectual disability-dysmorphism syndrome",1,3,[4],[0,1],5,0,15235,"",0,0],[1131,"X-linked mandibulofacial dysostosis",1,3,[5],[0],5,0,10539,"",0,0],[1132,"Aortic arch defects",4,3,[2],[2],8,0,15236,"",0,0],[1133,"AREDYLD syndrome",1,3,[0],[0],5,0,8812,"",0,0],[1134,"Isolated arrhinia",1,3,[2],[4,0],5,0,15237,"",0,0],[1138,"Abnormal origin of the pulmonary artery",3,3,[],[],8,0,15239,"",0,0],[1143,"Neurogenic arthrogryposis multiplex congenita",0,3,[0],[0],8,3,8823,"COL25A1 ERGIC1 SCYL2",1,0],[1144,"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome",1,3,[4],[0],5,0,7159,"",0,0],[1145,"Infantile-onset X-linked spinal muscular atrophy",0,3,[5],[0],5,1,10532,"UBA1",1,0],[1146,"Distal arthrogryposis type 1",1,3,[1],[4,0],6,6,15240,"TNNI2 TNNT3 TPM2 MYH3 MYBPC1 NALCN",0,0],[1147,"Sheldon-Hall syndrome",1,3,[1,2],[0],8,5,11128,"TNNI2 TNNT3 TPM2 MYH3 NALCN",0,0],[1149,"Kuskokwim syndrome",1,3,[0],[0,2],5,1,15241,"FKBP10",0,0],[1150,"Arthrogryposis multiplex congenita-whistling face syndrome",1,3,[0],[4,0],5,0,8825,"",0,0],[1154,"Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome",1,3,[1,0],[0],8,1,7158,"PIEZO2",1,0],[1159,"Progressive pseudorheumatoid dysplasia",0,0,[0],[2],8,1,8827,"CCN6",1,0],[1160,"Chylous ascites",0,24,[],[3],6,0,8829,"",0,0],[1163,"Aspergillosis",0,8,[2],[3],8,0,5657,"",0,0],[1164,"Allergic bronchopulmonary aspergillosis",0,9,[2],[2],6,0,15243,"",0,0],[1166,"Congenital unilateral hypoplasia of depressor anguli oris",6,3,[1],[0],8,0,7443,"",0,0],[1168,"Ataxia-oculomotor apraxia type 1",0,1,[0],[2],8,1,8842,"APTX",1,0],[1170,"Autosomal recessive cerebelloparenchymal disorder type 3",0,1,[0],[1,2,5],8,1,8943,"PMPCA",1,0],[1171,"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome",0,1,[1,6],[0,1],5,1,11038,"ATP1A3",1,0],[1172,"Autosomal recessive cerebellar ataxia",3,1,[0],[3],3,0,15244,"",1,0],[1173,"Cerebellar ataxia-hypogonadism syndrome",0,1,[0],[2,5,6],8,2,8935,"PNPLA6 RNF216",1,0],[1174,"Cerebellar ataxia-ectodermal dysplasia syndrome",1,3,[0],[0],8,0,8934,"",0,0],[1175,"X-linked progressive cerebellar ataxia",0,1,[5],[2],8,1,10547,"GJB1",1,0],[1177,"Early-onset cerebellar ataxia with retained tendon reflexes",0,1,[0],[2,5,6],3,0,8938,"",0,0],[1178,"Ataxia-tapetoretinal degeneration syndrome",0,1,[4],[1,2,5],6,0,10095,"",0,0],[1179,"Benign paroxysmal tonic upgaze of childhood with ataxia",0,1,[],[0,1],5,0,8206,"",1,0],[1180,"Ataxia-hypogonadism-choroidal dystrophy syndrome",0,3,[0],[2],8,1,8980,"PNPLA6",0,0],[1182,"Spastic ataxia with congenital miosis",0,1,[1],[0,1,2,5],5,0,7165,"",0,0],[1183,"Opsoclonus-myoclonus syndrome",0,1,[2],[1,2],5,0,15247,"",0,0],[1184,"Ataxia-photosensitivity-short stature syndrome",1,3,[4],[1,2],5,0,15248,"",0,0],[1185,"Spinocerebellar ataxia-dysmorphism syndrome",0,3,[0],[1],5,0,10062,"",0,0],[1186,"Infantile-onset spinocerebellar ataxia",0,1,[0],[1],5,1,10060,"TWNK",1,0],[1187,"Lethal ataxia with deafness and optic atrophy",0,3,[5],[0,1],5,1,10533,"PRPS1",1,0],[1188,"Ataxia-deafness-intellectual disability syndrome",1,3,[4],[1,2],5,0,8838,"",0,0],[1190,"Atelosteogenesis type I",1,0,[1],[4,0],5,1,7167,"FLNB",1,0],[1192,"Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome",1,23,[0],[2],5,0,8843,"",0,0],[1193,"Atkin-Flaitz syndrome",1,3,[7],[0],5,0,10323,"",0,0],[1194,"TMEM70-related mitochondrial encephalo-cardio-myopathy",0,2,[0],[0,1],8,1,13546,"TMEM70",1,0],[1195,"Congenital atransferrinemia",0,4,[0],[1,2],5,1,8846,"TF",1,0],[1198,"Colonic atresia",6,3,[2],[4,0],3,0,10562,"",0,0],[1199,"Esophageal atresia",6,3,[2],[0],2,0,8586,"",0,0],[1200,"Burn-McKeown syndrome",1,3,[0],[0],5,2,12064,"TXNL4A POLR1A",1,0],[1201,"Small bowel atresia",6,3,[0,2,4],[4],3,0,9476,"",0,0],[1202,"Larynx atresia",1,3,[1],[3],8,0,7879,"",0,0],[1203,"Duodenal atresia",6,3,[4],[4,0,1,2],3,0,9126,"",0,0],[1205,"Mitral atresia",6,3,[],[],8,0,15249,"",0,0],[1207,"Pulmonary atresia with ventricular septal defect",6,3,[],[],2,0,8343,"",0,0],[1208,"Pulmonary atresia-intact ventricular septum syndrome",6,3,[],[4,0,1],3,0,9931,"",0,0],[1209,"Tricuspid atresia",6,3,[2],[4,0],3,0,11514,"",0,0],[1214,"Progressive hemifacial atrophy",0,1,[2],[2,5,6],4,0,7710,"",0,0],[1215,"Autosomal dominant optic atrophy plus syndrome",0,10,[1],[2,5,6],4,1,14720,"OPA1",0,0],[1216,"Autosomal dominant congenital benign spinal muscular atrophy",0,1,[1],[4,0],8,1,10839,"TRPV4",0,0],[1217,"Spinal atrophy-ophthalmoplegia-pyramidal syndrome",0,1,[],[0],5,0,15250,"",0,0],[1221,"Cheilitis glandularis",0,5,[2],[2,5,6,7],5,0,7313,"",0,0],[1223,"Balantidiasis",0,8,[2],[3],8,0,5662,"",0,0],[1225,"Baller-Gerold syndrome",1,3,[0],[4,0],5,1,9039,"RECQL4",1,0],[1226,"Bamforth-Lazarus syndrome",1,15,[0],[4,0],5,1,9437,"FOXE1",1,0],[1227,"Bangstad syndrome",1,15,[0],[0],5,0,8874,"",0,0],[1228,"Banki syndrome",1,3,[1],[0],5,0,7185,"",0,0],[1229,"Pseudo-TORCH syndrome type 1",1,1,[0],[4,0],5,1,9626,"OCLN",0,0],[1231,"Barber-Say syndrome",1,3,[1],[0],5,1,8853,"TWIST2",1,0],[1234,"Bartsocas-Papas syndrome",1,3,[0],[4,0],5,1,9901,"RIPK4",1,0],[1236,"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome",1,3,[11],[0],5,0,15252,"",0,0],[1237,"Beemer-Ertbruggen syndrome",1,3,[0],[0],5,0,8857,"",0,0],[1239,"Behr syndrome",1,3,[0],[],8,1,8858,"OPA1",1,0],[1241,"Bencze syndrome",1,3,[1],[2],5,0,7711,"",0,0],[1243,"Best vitelliform macular dystrophy",0,10,[1],[2,5],3,1,7931,"BEST1",1,0],[1246,"Brachydactyly-nystagmus-cerebellar ataxia syndrome",1,3,[4],[1],5,0,7226,"",0,0],[1247,"Schistosomiasis",0,8,[2],[3],8,0,15254,"",0,0],[1248,"Maxillonasal dysplasia",1,3,[1,0,3],[0],8,0,7953,"",0,0],[1252,"Blepharonasofacial malformation syndrome",1,3,[1,7],[2],5,0,7200,"",0,0],[1253,"Ascher syndrome",1,3,[2],[0],5,0,7198,"",0,0],[1259,"Blepharoptosis-myopia-ectopia lentis syndrome",0,3,[1],[2],5,0,7202,"",0,0],[1261,"Bonnemann-Meinecke-Reich syndrome",1,3,[0],[0,1],5,0,9167,"",0,0],[1262,"Böök syndrome",1,3,[1],[6],5,0,7207,"",0,0],[1263,"Boomerang dysplasia",0,0,[2],[4,0],5,1,7208,"FLNB",1,0],[1264,"Tricho-retino-dento-digital syndrome",1,3,[1],[0],5,0,8622,"",0,0],[1267,"Botulism",0,8,[2],[3],5,0,5498,"",0,0],[1270,"Bowen-Conradi syndrome",1,3,[0],[4,0],5,1,8879,"EMG1",1,0],[1272,"Aymé-Gripp syndrome",1,3,[0],[0,1],5,1,11049,"MAF",0,0],[1275,"Brachydactyly-elbow wrist dysplasia syndrome",1,3,[1],[4,0,1],5,2,8520,"PITX1 MACROH2A1",0,0],[1276,"Brachydactyly-arterial hypertension syndrome",1,3,[1],[0],5,1,7211,"PDE3A",1,0],[1277,"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome",1,3,[],[0],5,0,15259,"",0,0],[1278,"Brachydactyly-preaxial hallux varus syndrome",1,3,[1],[0],5,0,7214,"",0,0],[1292,"Brachymorphism-onychodysplasia-dysphalangism syndrome",1,3,[1],[0],5,0,7230,"",0,0],[1293,"Brachyolmia",3,0,[1,0],[2],7,0,15262,"",0,0],[1295,"Brachytelephalangy-dysmorphism-Kallmann syndrome",1,3,[1],[0],5,0,7231,"",0,0],[1296,"Lambert syndrome",1,3,[4],[0],5,0,9507,"",0,0],[1297,"Branchio-oculo-facial syndrome",1,3,[1],[4,0],5,1,7235,"TFAP2A",1,0],[1299,"Branchioskeletogenital syndrome",1,3,[0,7],[0],5,1,8885,"CDH11",1,0],[1300,"Autosomal dominant popliteal pterygium syndrome",1,3,[1],[4,0],4,1,7334,"IRF6",1,0],[1302,"Cryptogenic organizing pneumonia",0,9,[2],[2,5,6,7],4,0,15264,"",0,0],[1303,"Bronchiolitis obliterans",3,9,[2],[3],8,0,15265,"",0,0],[1304,"Brucellosis",0,8,[2],[3],5,0,5683,"",0,0],[1305,"Feingold syndrome",1,3,[1],[4,0],5,0,15267,"",0,0],[1307,"Distal limb deficiencies-micrognathia syndrome",1,3,[0],[0],5,0,9525,"",0,0],[1308,"C syndrome",1,3,[2,4],[4,0],4,1,8893,"CD96",0,0],[1309,"Medullary sponge kidney",6,3,[1,2],[2,6],6,1,15268,"HNF1B",0,0],[1310,"Caffey disease",1,0,[1,4],[4,0,1,2],7,1,7244,"COL1A1",1,0],[1313,"Infantile choroidocerebral calcification syndrome",0,1,[0],[0,1],5,0,8981,"",0,0],[1314,"Symmetrical thalamic calcifications",0,1,[2],[0],5,0,15269,"",0,0],[1318,"Campomelia, Cumming type",1,0,[0],[4,0],5,0,8896,"",0,0],[1319,"Camptobrachydactyly",1,3,[1],[0],5,0,7249,"",0,0],[1320,"Idiopathic camptocormia",6,1,[2],[6,7],8,0,15271,"",0,0],[1321,"Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome",1,3,[],[0],5,0,8900,"",0,0],[1323,"Camptodactyly-joint contractures-facial skeletal defects syndrome",1,3,[1,0],[0],5,0,11262,"",0,0],[1325,"Camptodactyly-taurinuria syndrome",1,3,[1],[1],5,0,15272,"",0,0],[1326,"Camptodactyly syndrome, Guadalajara type 2",1,3,[0],[0],5,0,8899,"",0,0],[1327,"Camptodactyly syndrome, Guadalajara type 1",1,3,[0],[0],5,0,8898,"",0,0],[1328,"Camurati-Engelmann disease",1,0,[1],[2,5,6],5,1,7542,"TGFB1",1,0],[1329,"Complete atrioventricular septal defect",6,3,[2],[0,1],2,0,15273,"",0,0],[1330,"Partial atrioventricular septal defect",6,3,[2],[3],2,0,15275,"",0,0],[1332,"Medullary thyroid carcinoma",0,11,[2],[6],3,0,15277,"",0,0],[1333,"Familial pancreatic carcinoma",0,11,[1,3],[6],8,9,15278,"BRCA1 BRCA2 CDKN2A SMAD4 TP53 KRAS PALB2 PALLD RABL3",1,0],[1334,"Chronic mucocutaneous candidiasis",0,16,[1,0],[1,2],8,5,15279,"CLEC7A IL17RA IL17F TRAF3IP2 IL17RC",0,0],[1335,"Pentalogy of Cantrell",1,3,[2],[4,0],4,0,10742,"",0,0],[1336,"Hyperkeratosis-hyperpigmentation syndrome",0,5,[1],[1,2,5],5,0,7757,"",0,0],[1338,"Heart defect-tongue hamartoma-polysyndactyly syndrome",1,3,[0],[0],5,1,9008,"WDPCP",1,0],[1340,"Cardiofaciocutaneous syndrome",1,3,[1],[4,0],5,4,15280,"BRAF KRAS MAP2K1 MAP2K2",5,0],[1342,"Heart-hand syndrome type 3",1,3,[],[0],5,0,7702,"",0,0],[1344,"Isolated atrial standstill",0,7,[1,2],[6],8,2,15281,"SCN5A NPPA",0,0],[1345,"Cardiomyopathy-cataract-hip spine disease syndrome",0,14,[0],[5,6],5,0,15282,"",0,0],[1349,"Mitochondrial DNA-related cardiomyopathy and hearing loss",1,7,[6],[2,6],5,1,15283,"MT-TK",0,0],[1350,"Heart-hand syndrome type 2",1,3,[],[0,1],5,0,15284,"",0,0],[1352,"Atrioventricular defect-blepharophimosis-radial and anal defect syndrome",1,3,[],[0],5,0,10825,"",0,0],[1354,"Heart defects-limb shortening syndrome",1,3,[0],[0],5,0,8917,"",0,0],[1355,"Congenital heart defect-round face-developmental delay syndrome",1,3,[],[0,1],5,0,10039,"",0,0],[1358,"Carey-Fineman-Ziter syndrome",1,3,[0],[0],5,2,31415,"MYMK MYMX",0,0],[1359,"Carney complex",0,15,[1],[0,1],5,2,15285,"PRKAR1A PDE11A",0,0],[1361,"Carnosinase deficiency",8,2,[0],[1],4,0,8921,"",0,0],[1366,"Autosomal recessive palmoplantar keratoderma and congenital alopecia",0,3,[0],[0],5,1,8923,"LSS",0,0],[1368,"Cataract-ataxia-deafness syndrome",0,3,[0],[0],5,0,8928,"",0,0],[1369,"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome",0,2,[0],[0,1],5,3,8922,"SLC25A4 AGK TKFC",1,0],[1373,"Cataract-aberrant oral frenula-growth delay syndrome",1,3,[],[2],5,0,7277,"",0,0],[1375,"Cataract-hypertrichosis-intellectual disability syndrome",1,3,[0],[0],8,0,8894,"",0,0],[1377,"Cataract-microcornea syndrome",1,3,[1,0],[0],6,8,15300,"CRYAA CRYBA4 CRYBB2 CRYGC CRYGD GJA8 CRYBB1 MAF",0,0],[1380,"Cataract-nephropathy-encephalopathy syndrome",1,3,[0],[0],5,0,9045,"",0,0],[1383,"Cataract-deafness-hypogonadism syndrome",1,3,[0],[0,1],5,0,15325,"",0,0],[1387,"Cataract-intellectual disability-hypogonadism syndrome",1,3,[0],[0],5,2,8000008,"RAB3GAP1 RAB3GAP2",1,0],[1388,"Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome",1,3,[0],[4,0],5,1,14507,"TGDS",1,0],[1389,"Cortical blindness-intellectual disability-polydactyly syndrome",1,3,[0],[4,0],5,0,9024,"",0,0],[1390,"Night blindness-skeletal anomalies-dysmorphism syndrome",1,3,[],[2],5,0,15326,"",0,0],[1393,"Cerebrocostomandibular syndrome",1,3,[1,0,2],[4,0],5,1,7301,"SNRPB",1,0],[1394,"Cerebrofaciothoracic dysplasia",1,3,[0],[4,0],5,1,800436,"TMCO1",1,0],[1397,"Hydrocephaly-cerebellar agenesis syndrome",1,3,[5],[0],5,0,10612,"",0,0],[1398,"Isolated cerebellar agenesis",6,3,[],[2],8,0,8939,"",1,0],[1399,"Richards-Rundle syndrome",1,3,[0],[1],8,0,9493,"",0,0],[1401,"CHAND syndrome",1,3,[0],[0],5,1,8959,"RIPK4",0,0],[1406,"Charlie M syndrome",1,3,[2],[0],5,0,15367,"",0,0],[1410,"Uncombable hair syndrome",0,5,[0],[2],8,2,8621,"PADI3 TGM3",0,0],[1412,"Tarsal-carpal coalition syndrome",1,3,[1],[0],5,1,8521,"NOG",0,0],[1414,"Cholestasis-lymphedema syndrome",0,3,[0],[0,1],5,0,8966,"",0,0],[1415,"Hardikar syndrome",1,3,[7],[0],5,1,12997,"MED12",1,0],[1416,"Familial calcium pyrophosphate deposition",0,14,[1,2],[6],6,2,7319,"TNFRSF11B ANKH",1,0],[1422,"Chondrodysplasia-difference of sex development syndrome",1,0,[0],[4,0],5,1,10814,"HHAT",1,0],[1423,"Lethal recessive chondrodysplasia",1,0,[0],[0,1],5,0,15425,"",0,0],[1425,"Desbuquois syndrome",1,0,[0],[4,0],5,3,15426,"CANT1 XYLT1 CSGALNACT1",1,0],[1426,"Greenberg dysplasia",0,0,[0],[4,0],5,1,8974,"LBR",1,0],[1427,"Autosomal recessive otospondylomegaepiphyseal dysplasia",0,0,[0],[4,0],5,1,8975,"COL11A2",1,0],[1429,"Benign hereditary chorea",0,1,[1],[1,2],5,2,1595,"NKX2-1 ADCY5",0,0],[1431,"Paroxysmal dyskinesia",3,1,[1,2],[2],8,0,15427,"",2,0],[1433,"Choroidal atrophy-alopecia syndrome",1,3,[4],[0],5,0,15428,"",0,0],[1435,"Xq21 microdeletion syndrome",1,3,[5],[0,1],5,1,10558,"POU3F4",0,0],[1436,"X-linked skeletal dysplasia-intellectual disability syndrome",1,0,[5],[0],5,0,10668,"",0,0],[1437,"Ring chromosome 1 syndrome",1,3,[],[0],5,0,15430,"",0,0],[1438,"Ring chromosome 10 syndrome",1,3,[2,4],[4,0],5,0,15431,"",0,0],[1439,"Ring chromosome 12 syndrome",1,3,[],[0,1],5,0,15432,"",0,0],[1440,"Ring chromosome 14 syndrome",1,3,[2,4],[2],5,0,14708,"",0,0],[1441,"Ring chromosome 17 syndrome",1,3,[2,4],[2],5,0,15433,"",0,0],[1442,"Ring chromosome 18 syndrome",1,3,[],[4,0,1],5,0,15434,"",0,0],[1443,"Ring chromosome 19 syndrome",1,3,[],[4],5,0,15435,"",0,0],[1444,"Ring chromosome 20 syndrome",1,3,[4],[1,2,5,6],5,0,15436,"",0,0],[1445,"Ring chromosome 21 syndrome",1,3,[],[4,0],6,0,15437,"",0,0],[1446,"Ring chromosome 22 syndrome",1,3,[],[0,1],5,0,15438,"",0,0],[1447,"Ring chromosome 4 syndrome",1,3,[],[0,1],5,0,15439,"",0,0],[1448,"Ring chromosome 6 syndrome",1,3,[],[4,0,1],5,0,15440,"",0,0],[1449,"Ring chromosome 7 syndrome",1,3,[],[4,0],5,0,15441,"",0,0],[1450,"Ring chromosome 8 syndrome",1,3,[],[4,0],5,0,15443,"",0,0],[1451,"CINCA syndrome",0,14,[1,2],[0,1],6,1,11776,"NLRP3",1,0],[1452,"Cleidocranial dysplasia",1,0,[1,2],[4,0],4,1,7340,"RUNX2",1,0],[1453,"Cleidorhizomelic syndrome",1,0,[1],[0],5,0,7341,"",0,0],[1454,"Joubert syndrome with hepatic defect",2,3,[0],[0],5,4,100349,"TMEM67 RPGRIP1L CC2D2A INPP5E",0,0],[1456,"Middle aortic syndrome",6,3,[2],[2],8,0,15446,"",0,0],[1457,"Coarctation of aorta",6,3,[2],[0,1,2,5,6],2,0,7345,"",0,0],[1458,"CODAS syndrome",1,3,[0],[0,1],5,1,10879,"LONP1",1,0],[1459,"Celiac disease-epilepsy-cerebral calcification syndrome",0,12,[2],[2],5,0,9187,"",0,0],[1460,"Isolated complex III deficiency",0,2,[0,6],[0,1,2],5,11,15448,"BCS1L MT-CYB UQCRQ UQCRB TTC19 UQCRC2 CYC1 LYRM7 UQCC2 UQCC3 UQCRFS1",0,0],[1461,"Criss-cross heart",6,3,[4],[0,1],4,0,15449,"",0,0],[1463,"Triatrial heart",3,3,[],[],8,0,15450,"",0,0],[1464,"Univentricular heart",6,3,[2],[0,1],3,0,15451,"",0,0],[1465,"Coffin-Siris syndrome",1,3,[1],[4,0],5,11,15452,"SMARCB1 SMARCA4 ARID1B ARID1A SMARCE1 SOX11 ARID2 SMARCC2 SMARCD1 DPF2 SOX4",9,0],[1466,"COFS syndrome",2,3,[0],[4,0],5,4,8926,"ERCC2 ERCC6 ERCC5 ERCC1",0,0],[1467,"Cogan syndrome",0,14,[2],[2,5,6],4,0,15453,"",0,0],[1471,"Sorsby syndrome",1,3,[1],[4,0],5,0,7353,"",0,0],[1473,"Uveal coloboma-cleft lip and palate-intellectual disability",1,3,[1],[0],5,1,7355,"YAP1",1,0],[1475,"Renal coloboma syndrome",1,3,[1],[2],5,1,7352,"PAX2",1,0],[1478,"Interatrial communication",6,3,[1,2],[2,5,6,7],8,0,6664,"",1,0],[1479,"Atrial septal defect-atrioventricular conduction defects syndrome",1,3,[1],[8],5,1,7173,"NKX2-5",1,0],[1482,"Gonococcal conjunctivitis",0,10,[],[3],2,0,15455,"",0,0],[1484,"Contractures-ectodermal dysplasia-cleft lip/palate syndrome",1,3,[0,5],[0],5,0,10531,"",0,0],[1485,"Arthrogryposis-hyperkeratosis syndrome, lethal form",1,3,[4],[0],5,0,8826,"",0,0],[1486,"Lethal congenital contracture syndrome type 1",1,3,[0],[4,0],5,1,9670,"GLE1",1,0],[1487,"Cooks syndrome",1,3,[1],[0],5,0,7134,"",0,0],[1488,"Cooper-Jabs syndrome",1,3,[0],[0],5,0,8850,"",0,0],[1489,"Whooping cough",0,8,[],[3],3,0,5077,"",0,0],[1490,"Corneal dystrophy-perceptive deafness syndrome",1,3,[0],[0],5,1,9015,"SLC4A11",1,0],[1493,"Vici syndrome",1,3,[0],[4,0],5,1,9452,"EPG5",1,0],[1495,"Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome",1,3,[0],[0],5,0,15458,"",0,0],[1496,"Corpus callosum agenesis-neuronopathy syndrome",0,1,[0],[4,0],2,1,902,"SLC12A6",1,0],[1497,"X-linked complicated corpus callosum dysgenesis",2,3,[5],[4,0],5,1,10569,"L1CAM",1,0],[1501,"Adrenocortical carcinoma",0,11,[2],[2],4,7,6639,"PRKAR1A CDKN2A TP53 TP53 CTNNB1 TERT ZNRF3",0,0],[1505,"Short rib-polydactyly syndrome",3,0,[0],[4,0],8,0,15461,"",0,0],[1506,"Thin ribs-tubular bones-dysmorphism syndrome",1,0,[],[0],5,0,15462,"",0,0],[1507,"Autosomal recessive Robinow syndrome",2,3,[0],[0,1],5,2,9999,"ROR2 NXN",1,0],[1508,"Coxoauricular syndrome",1,0,[4],[0],5,0,7392,"",0,0],[1509,"Coxopodopatellar syndrome",0,3,[1],[0,1],5,1,7841,"TBX4",1,0],[1512,"Crane-Heise syndrome",1,3,[0],[4,0],5,0,9028,"",0,0],[1513,"Craniodiaphyseal dysplasia",1,0,[1,0,2],[2],5,2,9031,"SOST SP7",0,0],[1514,"Craniodigital-intellectual disability syndrome",1,3,[0,5],[0],5,0,15463,"",0,0],[1515,"Cranioectodermal dysplasia",1,3,[0],[4,0],5,5,9032,"IFT122 WDR35 IFT43 WDR19 IFT52",0,0],[1516,"Non-syndromic bilambdoid and sagittal craniosynostosis",1,3,[0],[0],5,0,9034,"",0,0],[1517,"Cantú syndrome",1,3,[1,2],[0],5,2,9406,"ABCC9 KCNJ8",2,0],[1519,"SPECC1L-related hypertelorism syndrome",1,3,[1],[0],5,1,800025,"SPECC1L",1,0],[1520,"Craniofrontonasal dysplasia",1,3,[7],[4,0],8,1,10570,"EFNB1",1,0],[1521,"Craniofrontonasal dysplasia-Poland anomaly syndrome",1,3,[4],[0],5,0,15464,"",0,0],[1522,"Craniometaphyseal dysplasia",1,0,[1,0],[2],5,2,15465,"ANKH GJA1",0,0],[1524,"Craniomicromelic syndrome",1,3,[],[0,1],8,0,11253,"",0,0],[1525,"Cranio-osteoarthropathy",1,0,[0],[2],5,1,15466,"HPGD",0,0],[1527,"Craniosynostosis, Philadelphia type",1,3,[1],[0],5,0,15467,"",0,0],[1528,"Craniotelencephalic dysplasia",1,3,[],[0],5,0,9042,"",0,0],[1529,"Craniofacial-deafness-hand syndrome",1,3,[1],[0],5,1,7395,"PAX3",1,0],[1531,"Craniosynostosis",4,3,[1,0,2,4,5],[0,1],2,0,15469,"",4,0],[1532,"Gómez-López-Hernández syndrome",1,3,[2],[0],5,0,11157,"",0,0],[1538,"Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome",1,3,[1],[],8,0,7401,"",0,0],[1540,"Jackson-Weiss syndrome",1,3,[1],[0],5,1,7400,"FGFR2",2,0],[1541,"Craniosynostosis, Boston type",1,3,[1],[0,1],5,1,11481,"MSX2",1,0],[1544,"Benign focal seizures of adolescence",0,1,[],[],8,0,15471,"",0,0],[1545,"Crisponi syndrome",1,1,[0],[0],5,2,10091,"CRLF1 CLCF1",1,0],[1546,"Cryptococcosis",0,8,[2],[3],2,0,5724,"",0,0],[1547,"Cryptomicrotia-brachydactyly-excess fingertip arch syndrome",1,3,[1],[0],5,0,7409,"",0,0],[1548,"Cryptorchidism-arachnodactyly-intellectual disability syndrome",1,3,[],[0,1],5,0,15473,"",0,0],[1551,"Familial benign copper deficiency",0,2,[],[1],5,0,7368,"",0,0],[1552,"Currarino syndrome",1,3,[1,2],[3],8,1,8305,"MNX1",1,0],[1553,"Curry-Jones syndrome",1,3,[2],[0],5,1,11134,"SMO",1,0],[1555,"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome",1,3,[1],[4,0],5,1,7412,"FGFR2",1,0],[1556,"Cutis marmorata telangiectatica congenita",1,3,[2],[0],5,2,9055,"GNA11 ARL6IP6",0,0],[1560,"Cysticercosis",0,8,[2],[3],6,0,15484,"",0,0],[1561,"Fatal infantile cytochrome C oxidase deficiency",0,2,[0],[0,1],5,5,15487,"SCO1 SCO2 COX15 COA5 COA6",0,0],[1563,"Dahlberg-Borer-Newcomer syndrome",1,3,[0,5],[2],5,0,9533,"",0,0],[1566,"Dandy-Walker malformation-postaxial polydactyly syndrome",1,3,[0],[4,0],5,0,9075,"",0,0],[1568,"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome",1,3,[5],[4,0],5,1,10574,"AP1S2",1,0],[1570,"Symbrachydactyly of hands and feet",1,3,[],[4,0],5,0,15516,"",0,0],[1571,"Knobloch syndrome",1,3,[0],[4,0,1],5,2,800167,"COL18A1 PAK2",1,0],[1573,"Hypotrichosis with juvenile macular degeneration",1,10,[0],[0,1],5,1,11107,"CDH3",1,0],[1574,"Retinal degeneration-nanophthalmos-glaucoma syndrome",1,10,[0],[6],5,0,9978,"",0,0],[1576,"Infantile bilateral striatal necrosis",3,1,[1,0,6,2],[3],4,0,15518,"",0,0],[1578,"Pterin-4 alpha-carbinolamine dehydratase deficiency",2,2,[0],[0],6,1,9908,"PCBD1",1,0],[1580,"Distal deletion 10p syndrome",3,3,[2,4],[2],8,0,11055,"",0,0],[1581,"Non-distal deletion 10q syndrome",1,3,[],[4,0],8,0,15546,"",0,0],[1587,"Monosomy 13q14 syndrome",1,3,[2],[0,1],6,1,13481,"RB1",0,0],[1590,"Distal deletion 13q syndrome",1,3,[],[4,0,1],6,0,11248,"",0,0],[1596,"Distal deletion 15q syndrome",1,3,[],[4,0],5,1,12964,"MCTP2",0,0],[1597,"Distal deletion 17q syndrome",1,3,[2,4],[4,0],8,0,15562,"",0,0],[1598,"Monosomy 18p syndrome",0,3,[1],[4,0,1],3,0,7800,"",0,0],[1600,"Monosomy 18q syndrome",1,3,[1],[4,0],6,0,11147,"",0,0],[1606,"1p36 deletion syndrome",1,3,[3,2],[4,0],2,13,11929,"GABRD HSPG2 SKI KCNAB2 PRDM16 RERE SPEN CASZ1 PRKCZ UBE4B MMP23B PDPN LUZP1",0,0],[1617,"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion",7,1,[2],[4,0],5,2,15566,"TBR1 NR4A2",0,0],[1620,"Distal deletion 3p syndrome",1,3,[],[4,0],5,2,13424,"SETD5 BRPF1",0,0],[1621,"3q13 microdeletion syndrome",1,3,[2],[4,0],5,0,14185,"",0,0],[1627,"Deletion 5q35 syndrome",1,3,[2,4],[4,0],5,2,15571,"NKX2-5 NSD1",0,0],[1636,"Distal monosomy 7q36 syndrome",1,3,[],[4,0],5,0,15580,"",0,0],[1642,"Distal deletion 9p syndrome",1,3,[],[0,1],5,0,15605,"",0,0],[1643,"Xp22.3 microdeletion syndrome",1,3,[2],[0],5,0,15606,"",0,0],[1646,"Chromosome Y microdeletion syndrome",1,20,[2,9],[6],2,9,15607,"USP9Y DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1 TSPY1 AZF1",0,0],[1647,"Oculocerebrocutaneous syndrome",1,3,[2],[0],5,0,8108,"",0,0],[1652,"Dent disease",0,13,[5],[2],6,0,15612,"",0,0],[1653,"Dentin dysplasia",0,6,[1],[3],8,0,15613,"",0,0],[1655,"Müllerian derivatives-lymphangiectasia-polydactyly syndrome",1,3,[4],[4,0],5,0,9333,"",0,0],[1656,"Dermatitis herpetiformis",0,5,[2],[3],2,0,15614,"",0,0],[1657,"Dermatoosteolysis, Kirghizian type",1,3,[0],[1],5,0,9095,"",0,0],[1658,"Absence of fingerprints-congenital milia syndrome",0,5,[1],[2],5,1,7507,"SMARCAD1",0,0],[1659,"Dermatoleukodystrophy",0,1,[0],[0],5,0,9093,"",0,0],[1660,"Dermoodontodysplasia",1,3,[1],[2],5,0,7449,"",0,0],[1661,"X-linked corneal dermoid",0,10,[5],[0],5,0,10579,"",0,0],[1662,"Restrictive dermopathy",0,3,[1,0],[4,0],5,2,31213,"ZMPSTE24 LMNA",0,0],[1665,"Sporadic fetal brain disruption sequence",1,3,[2],[4],5,0,15660,"",0,0],[1666,"Dextrocardia",6,3,[],[0,1],6,0,15661,"",0,0],[1667,"Wolcott-Rallison syndrome",0,0,[0],[0,1],5,1,9192,"EIF2AK3",1,0],[1670,"Chronic diarrhea with villous atrophy",0,12,[],[1],5,0,10786,"",0,0],[1671,"Split cord malformation type I",6,3,[],[1,2,5,6],6,0,9106,"",0,0],[1672,"Diencephalic syndrome",0,15,[2],[1,2,5,6],8,0,15663,"",0,0],[1675,"Dihydropyrimidine dehydrogenase deficiency",0,2,[0],[3],8,1,10130,"DPYD",1,0],[1676,"Idiopathic pulmonary artery dilatation",0,3,[],[],8,0,15664,"",0,0],[1677,"Familial idiopathic dilatation of the right atrium",6,3,[4],[3],8,0,15666,"",0,0],[1679,"Diphtheria",0,8,[],[3],5,0,5504,"",0,0],[1681,"Diprosopus",6,3,[11],[4],5,0,15672,"",0,0],[1682,"Arterial dissection-lentiginosis syndrome",1,23,[4],[2],5,0,10889,"",0,0],[1685,"Distomatosis",3,8,[2],[3],8,0,15675,"",0,0],[1686,"Cardiac diverticulum",6,3,[2],[0,1],8,0,15677,"",0,0],[1692,"Mosaic trisomy 1 syndrome",1,3,[],[0],5,0,15706,"",0,0],[1695,"Non-distal duplication 10q syndrome",1,3,[],[0],8,0,15712,"",0,0],[1698,"Mosaic trisomy 12 syndrome",1,3,[],[4,0],5,0,15718,"",0,0],[1699,"Trisomy 12p syndrome",1,3,[2,4],[0],5,0,15723,"",0,0],[1702,"Non-distal duplication 13q syndrome",1,3,[],[4,0],5,0,15724,"",0,0],[1703,"Mosaic trisomy 14 syndrome",1,3,[],[4,0],5,0,15725,"",0,0],[1705,"Distal duplication 14q syndrome",1,3,[],[4,0],5,0,15726,"",0,0],[1706,"Mosaic trisomy 15 syndrome",1,3,[],[4,0],5,0,15727,"",0,0],[1707,"Distal duplication 15q syndrome",7,3,[],[4,0],8,0,15728,"",0,0],[1708,"Mosaic trisomy 16 syndrome",1,3,[],[4,0],5,0,15729,"",0,0],[1711,"Mosaic trisomy 17 syndrome",1,3,[],[4,0],5,0,15730,"",0,0],[1713,"17p11.2 microduplication syndrome",1,3,[2],[0,1,2],6,1,12574,"RAI1",1,0],[1715,"Trisomy 18p syndrome",1,3,[],[1,2,5,6],5,0,15740,"",0,0],[1716,"Distal duplication 18q syndrome",1,3,[],[4,0],4,0,15741,"",0,0],[1717,"Distal duplication 19q syndrome",1,3,[],[0,1],5,0,15744,"",0,0],[1723,"Mosaic trisomy 2 syndrome",1,3,[],[4,0],5,0,15763,"",0,0],[1724,"Mosaic trisomy 20 syndrome",1,3,[],[4,0],6,0,15764,"",0,0],[1727,"22q11.2 duplication syndrome",1,3,[1],[3],6,1,12020,"TBX1",0,0],[1738,"Trisomy 4p syndrome",1,3,[],[4,0,1],5,0,15767,"",0,0],[1742,"Trisomy 5p syndrome",1,3,[2,4],[4,0],5,0,15768,"",0,0],[1745,"Distal duplication 6p syndrome",1,3,[],[4,0],5,0,15769,"",0,0],[1747,"Mosaic trisomy 7 syndrome",1,3,[],[4,0],5,0,15771,"",0,0],[1752,"Trisomy 8q syndrome",1,3,[4],[0],5,0,15772,"",0,0],[1756,"Caudal duplication",1,3,[2],[4,0],8,0,11928,"",0,0],[1757,"Fibular dimelia-diplopodia syndrome",1,3,[2],[0],5,0,15773,"",0,0],[1759,"Thoraco-abdominal enteric duplication",1,3,[],[1],4,0,15774,"",0,0],[1762,"Proximal Xq28 duplication syndrome",1,3,[],[4,0],4,1,10283,"MECP2",1,0],[1764,"Familial dysautonomia",0,1,[0],[0,1,2],2,1,9131,"ELP1",1,0],[1766,"Dysequilibrium syndrome",0,1,[0],[0],5,5,9133,"VLDLR TUBB2B WDR81 CA8 ATP8A2",1,0],[1768,"Familial caudal dysgenesis",1,3,[1],[0,1],5,0,10831,"",0,0],[1770,"XY type gonadal dysgenesis-associated anomalies syndrome",1,3,[0],[0],5,1,9302,"PPP2R3C",0,0],[1772,"45,X/46,XY mixed gonadal dysgenesis",1,3,[2,4],[3],8,1,15779,"SRY",0,0],[1775,"Dyskeratosis congenita",0,4,[1,0,5],[0,1,2,5,6],4,14,15780,"ACD DKC1 TERT TERC TINF2 NOP10 NPM1 NHP2 USB1 TYMS WRAP53 CTC1 RTEL1 PARN",2,0],[1777,"Temtamy syndrome",1,3,[0],[4,0,1],5,1,9033,"C12ORF57",1,0],[1778,"Facial dysmorphism-shawl scrotum-joint laxity syndrome",1,3,[],[0],5,0,15781,"",0,0],[1779,"Dysmorphism-cleft palate-loose skin syndrome",1,3,[],[4,0],6,0,15782,"",0,0],[1780,"Thakker-Donnai syndrome",1,3,[0],[4,0],5,0,9202,"",0,0],[1782,"Dysosteosclerosis",1,0,[0,5],[0,1],5,3,9138,"TCIRG1 TNFRSF11A SLC29A3",0,0],[1784,"Acrofrontofacionasal dysostosis",1,3,[0],[0],5,0,8715,"",0,0],[1786,"Acrofacial dysostosis, Catania type",1,3,[1,7],[4,0],5,0,7045,"",0,0],[1787,"Acrofacial dysostosis, Palagonia type",1,3,[4],[0,1],5,0,11154,"",0,0],[1788,"Acrofacial dysostosis, Rodríguez type",1,3,[1,0],[4,0],5,1,8714,"SF3B4",0,0],[1790,"Hypomandibular faciocranial dysostosis",1,3,[4],[4,0],5,0,9425,"",0,0],[1791,"Frontofacionasal dysplasia",1,3,[],[0],5,0,9247,"",0,0],[1794,"Oculomaxillofacial dysostosis",1,3,[],[0],5,0,15824,"",0,0],[1797,"Autosomal dominant spondylocostal dysostosis",1,3,[1],[8],8,1,15826,"TBX6",0,0],[1798,"Craniofacial dysostosis-diaphyseal hyperplasia syndrome",1,0,[1],[0],8,0,7396,"",0,0],[1799,"Familial developmental dysphasia",9,1,[1],[2],5,0,10821,"",0,0],[1801,"Kyphomelic dysplasia",1,0,[],[4,0],8,0,8881,"",0,0],[1802,"Ghosal hematodiaphyseal dysplasia",1,0,[0],[0,1],8,1,9274,"TBXAS1",1,0],[1803,"Thoracomelic dysplasia",0,0,[],[1],5,0,10116,"",0,0],[1806,"Ectodermal dysplasia-blindness syndrome",1,3,[0],[0],5,0,10001,"",0,0],[1807,"Focal facial dermal dysplasia type III",2,5,[1,0],[4,0],6,1,9203,"TWIST2",1,0],[1808,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",1,3,[1],[0,1],5,0,11063,"",0,0],[1809,"Hidrotic ectodermal dysplasia, Halal type",1,3,[0],[0,1],5,0,15883,"",0,0],[1810,"Autosomal dominant hypohidrotic ectodermal dysplasia",7,3,[1],[0,1],5,5,15884,"EDAR EDARADD LRP6 TRAF6 KDF1",0,0],[1811,"Odontomicronychial dysplasia",1,3,[0],[2],5,0,11034,"",0,0],[1812,"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome",1,3,[5],[4,0],8,0,9149,"",0,0],[1816,"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome",1,3,[0],[0],5,0,9522,"",0,0],[1818,"Ectodermal dysplasia, trichoodontoonychial type",1,3,[],[4,0,1],5,0,7511,"",0,0],[1822,"Dysplasia epiphysealis hemimelica",1,0,[1],[2,5],6,0,7489,"",0,0],[1824,"Lowry-Wood syndrome",0,0,[0],[0],5,1,9191,"RNU4ATAC",0,0],[1825,"Epiphyseal dysplasia-hearing loss-dysmorphism syndrome",1,3,[],[0],5,0,15941,"",0,0],[1826,"Frontometaphyseal dysplasia",0,0,[1,7],[0],5,2,15942,"FLNA MAP3K7",1,0],[1827,"Acromelic frontonasal dysplasia",1,3,[1],[4,0],5,1,11359,"ZSWIM6",1,0],[1830,"Schimke immuno-osseous dysplasia",0,0,[0],[4,0,1],5,1,9458,"SMARCAL1",1,0],[1832,"Osteosclerotic bone dysplasia",1,0,[0],[4,0],5,1,9821,"FAM20C",1,0],[1834,"Axial mesodermal dysplasia spectrum",1,3,[],[4],6,0,15944,"",0,0],[1836,"Mesomelic dysplasia, Kantaputra type",1,0,[1],[0],5,0,7977,"",0,0],[1837,"Metaphyseal chondrodysplasia, Rosenberg type",0,0,[],[5],5,0,8619,"",0,0],[1839,"Hereditary mucoepithelial dysplasia",1,5,[1],[2],8,0,8017,"",1,0],[1848,"Renal agenesis, bilateral",2,3,[0],[4,0],3,6,15986,"RET ITGA8 FGF20 GREB1L WNT9B GFRA1",0,0],[1851,"Multicystic dysplastic kidney",6,13,[2],[0,1],2,0,15988,"",0,0],[1855,"Spondyloenchondrodysplasia",1,0,[0],[2],5,1,11939,"ACP5",1,0],[1856,"Spondyloperipheral dysplasia-short ulna syndrome",0,0,[1],[0,1],5,1,10078,"COL2A1",1,0],[1858,"Skeletal dysplasia-epilepsy-short stature syndrome",1,3,[],[0],5,0,11011,"",0,0],[1860,"Thanatophoric dysplasia type 1",2,0,[1,2],[4,0],8,1,8546,"FGFR3",1,0],[1861,"Thoracic dysplasia-hydrocephalus syndrome",1,3,[],[4],5,0,10115,"",0,0],[1865,"Dyssegmental dysplasia, Silverman-Handmaker type",0,0,[0],[4,0],5,1,9140,"HSPG2",1,0],[1866,"Focal, segmental or multifocal dystonia",4,1,[1],[6],2,0,15990,"",0,0],[1867,"Hereditary bullous dystrophy, macular type",0,3,[5],[0],5,0,10540,"",0,0],[1871,"Progressive cone dystrophy",0,10,[1,0],[6],8,4,455,"CNGB3 GNAT2 GUCA1A PDE6C",2,0],[1872,"Cone rod dystrophy",0,10,[1,0,5],[2,5,6],8,33,15993,"FSD1L ABCA4 PRPH2 RIMS1 RPGR RPGRIP1 CACNA1F AIPL1 CNGA3 CRX GUCA1A GUCY2D OPN1LW OPN1MW RAX2 SEMA4A MFSD8 PROM1 CACNA2D4 PITPNM3 ADAM9 UNC119 CDHR1 CFAP418 NMNAT1 RAB28 POC1B DRAM2 ATF6 TTLL5 CFAP410 TLCD3B UBAP1L",2,0],[1873,"Jalili syndrome",1,3,[0],[2],5,1,9007,"CNNM4",1,0],[1875,"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome",0,1,[0],[0],5,0,9680,"",0,0],[1876,"Oculogastrointestinal muscular dystrophy",0,12,[0],[2],5,0,10181,"",0,0],[1878,"TRIM32-related limb-girdle muscular dystrophy R8",0,1,[0],[2,5,6],8,1,9683,"TRIM32",1,0],[1879,"Melorheostosis with osteopoikilosis",1,0,[1],[3],5,1,15995,"LEMD3",0,0],[1880,"Ebstein malformation of the tricuspid valve",6,3,[1,2],[3],3,1,9144,"MYH7",0,0],[1882,"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome",1,3,[0],[2],5,0,9150,"",0,0],[1883,"Ectodermal dysplasia-sensorineural deafness syndrome",1,3,[0],[1,2],5,0,9146,"",0,0],[1884,"Ectopia lentis-chorioretinal dystrophy-myopia syndrome",0,10,[0],[0,1],5,0,15997,"",0,0],[1885,"Isolated ectopia lentis",1,10,[1,0],[3],5,2,15998,"FBN1 ADAMTSL4",0,0],[1891,"Intellectual disability-spasticity-ectrodactyly syndrome",1,3,[],[0,1],5,0,9524,"",0,0],[1892,"Ectrodactyly-polydactyly syndrome",1,3,[],[4],5,0,9156,"",0,0],[1895,"Edinburgh malformation syndrome",1,3,[4],[0],5,0,7519,"",0,0],[1896,"EEC syndrome",1,3,[1],[4,0],3,1,10004,"TP63",0,0],[1897,"EEM syndrome",1,3,[0],[0],5,1,9155,"CDH3",1,0],[1899,"Arthrochalasia Ehlers-Danlos syndrome",0,14,[1],[0,1],6,2,7525,"COL1A1 COL1A2",2,0],[1900,"Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency",2,14,[0],[0,1],8,1,16002,"PLOD1",1,0],[1901,"Dermatosparaxis Ehlers-Danlos syndrome",0,14,[0],[0,1],5,2,9161,"ADAMTS2 ADAMTSL2",2,0],[1902,"Ehrlichiosis",0,8,[],[3],4,0,16003,"",0,0],[1906,"Fetal valproate spectrum disorder",1,3,[2],[4,0,1,2],3,0,12275,"",0,0],[1908,"Aminopterin/methotrexate embryofetopathy",1,3,[2],[4,0],5,0,16004,"",0,0],[1909,"Indomethacin embryofetopathy",1,3,[2],[4,0],8,0,16005,"",0,0],[1910,"Fetal iodine syndrome",1,3,[2],[4,0],8,0,9224,"",0,0],[1911,"Cocaine embryofetopathy",1,3,[2],[4,0],8,0,16007,"",0,0],[1912,"Fetal hydantoin syndrome",1,3,[2],[4,0],8,0,16008,"",0,0],[1913,"Fetal trimethadione syndrome",1,3,[2],[4,0],8,0,16009,"",0,0],[1914,"Vitamin K antagonist embryofetopathy",1,3,[2],[4,0],8,0,16010,"",0,0],[1915,"Fetal alcohol syndrome",1,3,[2],[4,0],3,0,16011,"",0,0],[1916,"Diethylstilbestrol syndrome",1,3,[2],[3],8,0,16012,"",0,0],[1917,"Fetal methylmercury syndrome",1,3,[2],[4,0],6,0,16013,"",0,0],[1918,"Fetal minoxidil syndrome",1,3,[2],[4,0],8,0,16014,"",0,0],[1919,"Phenobarbital embryopathy",1,3,[2],[4,0],8,0,16015,"",0,0],[1920,"Toluene embryopathy",1,3,[2],[4,0],8,0,16016,"",0,0],[1923,"Methimazole embryofetopathy",1,3,[2],[4,0],5,0,16017,"",0,0],[1926,"Diabetic embryopathy",1,3,[2],[4,0],8,0,16018,"",0,0],[1927,"Emery-Nelson syndrome",1,3,[],[0,1],5,0,7696,"",0,0],[1928,"Congenital lobar emphysema",6,3,[2],[0,1,2,6],3,0,7536,"",0,0],[1929,"Rasmussen syndrome",0,1,[2],[2],6,0,16019,"",0,0],[1930,"Herpes simplex virus encephalitis",0,8,[3,2],[3],4,5,12521,"UNC93B1 TLR3 TICAM1 TRAF3 TBK1",0,0],[1931,"Frontal encephalocele",2,3,[],[4,0,1],8,0,16020,"",0,0],[1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",0,2,[6],[1],5,1,12791,"SUCLA2",1,0],[1934,"Early infantile developmental and epileptic encephalopathy",9,1,[1,0,2,5],[0],3,21,800491,"LGI1 SCN1B SCN2A SLC25A22 CDKL5 ARX KCNA1 CASK PNKP GRIN1 GNAO1 PIGQ SIK1 DMXL2 PIGP TRIM8 NEUROD2 GRM7 SLC32A1 RHOBTB2 CACNA1E",0,0],[1937,"Eng-Strom syndrome",1,3,[1],[4],5,0,7618,"",0,0],[1941,"Juvenile absence epilepsy",0,1,[3,4],[5],3,1,11876,"EFHC1",0,0],[1942,"Epilepsy with myoclonic-atonic seizures",0,1,[4],[2],8,7,14633,"SCN1A NEXMIF SLC2A1 SYNGAP1 CHD2 SLC6A1 AP2M1",1,0],[1943,"Early-onset progressive encephalopathy with migrant continuous myoclonus",0,1,[4],[2],5,0,16026,"",0,0],[1945,"Self-limited epilepsy with centrotemporal spikes",0,1,[1],[2],2,3,7295,"SRPX2 GABRG2 GRIN2A",0,0],[1946,"Amelocerebrohypohidrotic syndrome",1,3,[0],[0,1,2],5,2,9185,"ROGDI SLC13A5",1,0],[1947,"Northern epilepsy",2,1,[0],[2],8,1,12391,"CLN8",1,0],[1948,"Epilepsy-microcephaly-skeletal dysplasia syndrome",1,3,[0],[0],5,0,11048,"",0,0],[1949,"Self-limited neonatal epilepsy",0,1,[1],[0],6,2,16027,"KCNQ2 KCNQ3",0,0],[1951,"Epilepsy-telangiectasia syndrome",0,1,[0],[2],5,0,9188,"",0,0],[1952,"Epiphyseal stippling-osteoclastic hyperplasia syndrome",1,0,[0],[4,0],5,0,8175,"",0,0],[1954,"Congenital lethal erythroderma",0,5,[0],[0],5,0,9198,"",0,0],[1955,"Spinocerebellar ataxia type 34",0,5,[1],[0,5,6],5,1,7574,"ELOVL4",1,0],[1957,"Esthesioneuroblastoma",0,11,[2],[6,7],5,0,16029,"",0,0],[1959,"Evans syndrome",0,4,[2],[2,6],4,0,16030,"",0,0],[1962,"Exostoses-anetodermia-brachydactyly type E syndrome",1,0,[4],[0],5,0,7584,"",0,0],[1964,"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome",1,3,[1],[0],5,0,7588,"",0,0],[1968,"Flat face-microstomia-ear anomaly syndrome",1,3,[4],[0],5,0,8421,"",0,0],[1969,"Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome",1,3,[4],[8],5,0,16031,"",0,0],[1970,"Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome",1,3,[0],[0],5,0,9074,"",0,0],[1972,"Lethal faciocardiomelic dysplasia",1,3,[0],[0],5,0,9204,"",0,0],[1973,"Faciocardiorenal syndrome",1,3,[0],[0],5,0,9205,"",0,0],[1974,"Autosomal recessive faciodigitogenital syndrome",1,3,[0],[0],5,0,9209,"",0,0],[1979,"Lipodystrophy due to peptidic growth factors deficiency",0,15,[4],[0],5,0,9312,"",0,0],[1980,"Bilateral striopallidodentate calcinosis",0,1,[1,0,2],[6],5,9,8947,"PDGFRB RRP12 PDGFB SLC20A2 XPR1 MYORG JAM2 NAA60 CMPK2",0,0],[1986,"Gollop-Wolfgang complex",1,3,[1,0],[4,0],4,1,9222,"BHLHA9",0,0],[1987,"Isolated femoral agenesis/hypoplasia",6,3,[],[4,0],3,0,16032,"",1,0],[1988,"Femoral-facial syndrome",1,3,[2],[4,0],5,0,7604,"",0,0],[1991,"Cleft lip with or without cleft palate",3,3,[],[],1,0,16034,"",1,0],[1993,"Pai syndrome",1,3,[4],[4,0],5,0,7956,"",0,0],[1997,"Blepharo-cheilo-odontic syndrome",1,3,[1],[0],5,2,7339,"CDH1 CTNND1",0,0],[2001,"Cleft lip/palate-intestinal malrotation-cardiopathy syndrome",1,3,[0],[0],5,0,11008,"",0,0],[2003,"Cleft lip/palate-deafness-sacral lipoma syndrome",1,3,[4],[0,1],5,0,16059,"",0,0],[2004,"Laryngotracheoesophageal cleft",6,3,[1,2],[4,0],3,0,16060,"",0,0],[2006,"Median cleft lip/mandible",6,3,[2],[0],5,0,16062,"",0,0],[2007,"Alar cartilages hypoplasia-coloboma-telecanthus syndrome",1,3,[0],[0],5,0,8744,"",0,0],[2008,"Acrocardiofacial syndrome",1,3,[0],[4,0],5,0,10890,"",0,0],[2010,"Cleft palate-stapes fixation-oligodontia syndrome",1,3,[0],[0],5,0,8993,"",0,0],[2013,"Cleft palate-large ears-small head syndrome",1,3,[],[0,1],5,0,8402,"",0,0],[2014,"Cleft palate",3,3,[3,2],[4,0],2,0,16064,"",0,0],[2015,"Cleft palate-short stature-vertebral anomalies syndrome",1,3,[1],[0,1],5,0,16065,"",0,0],[2016,"Cleft palate-lateral synechia syndrome",1,3,[1],[4,0],5,0,7337,"",0,0],[2017,"Sternal cleft",6,3,[2],[4,0],3,0,16066,"",0,0],[2019,"Femur-fibula-ulna complex",1,3,[2],[4,0],3,0,9221,"",0,0],[2020,"Congenital fiber-type disproportion myopathy",0,1,[1,0,5],[0,1],6,8,9711,"ACTA1 SELENON TPM2 TPM3 MYL2 ITGA7 HACD1 MAP3K20",1,0],[2021,"Fibrochondrogenesis",0,0,[1,0],[0],5,2,16068,"COL11A1 COL11A2",0,0],[2022,"Endocardial fibroelastosis",0,7,[4],[0],8,0,9169,"",0,0],[2023,"Undifferentiated pleomorphic sarcoma",0,11,[2],[2,5,6,7],4,0,2142,"",0,0],[2024,"Hereditary gingival fibromatosis",1,6,[1],[3],6,3,16070,"SOS1 REST GINGF2",0,0],[2025,"Gingival fibromatosis-facial dysmorphism syndrome",1,3,[0],[0],5,0,9228,"",0,0],[2026,"Gingival fibromatosis-hypertrichosis syndrome",1,3,[1],[0,1],8,1,7610,"ABCA5",0,0],[2027,"Gingival fibromatosis-progressive deafness syndrome",1,3,[1],[6],5,0,7612,"",0,0],[2028,"Juvenile hyaline fibromatosis",2,0,[0],[2],5,1,16071,"ANTXR2",1,0],[2030,"Fibrosarcoma",0,11,[2],[3],5,2,5164,"ETV6 NTRK3",0,0],[2031,"Hepatic fibrosis-renal cysts-intellectual disability syndrome",1,3,[],[0,1],5,0,8941,"",0,0],[2032,"Idiopathic pulmonary fibrosis",0,9,[3],[6],2,14,800504,"SFTPA1 SFTPC DSP TERT TERC ABCA3 MUC5B SFTPA2 RTEL1 FAM13A STN1 ATP11A DPP9 PARN",0,0],[2034,"Filariasis",4,8,[2],[3],0,0,16075,"",0,0],[2035,"Lymphatic filariasis",0,8,[2],[3],0,0,5761,"",0,0],[2036,"Scalp-ear-nipple syndrome",1,3,[1],[0],5,1,8404,"KCTD1",1,0],[2037,"Congenital aortopulmonary window",6,3,[],[],3,0,16077,"",0,0],[2038,"Pulmonary arteriovenous malformation",6,3,[3,4],[1],8,0,9930,"",0,0],[2040,"Congenital respiratory-biliary fistula",6,3,[2],[2],5,0,16080,"",0,0],[2041,"Coronary arterial fistula",6,3,[2],[3],8,0,16081,"",0,0],[2044,"Floating-Harbor syndrome",1,3,[1],[0,1],6,1,7621,"SRCAP",1,0],[2045,"FLOTCH syndrome",0,5,[],[1,2],5,0,16083,"",0,0],[2047,"Flynn-Aird syndrome",0,3,[1],[2],5,0,7624,"",0,0],[2048,"Foix-Chavany-Marie syndrome",1,1,[2],[3],5,0,23171,"",0,0],[2050,"Cole-Carpenter syndrome",1,0,[1,0,2],[0],5,3,16085,"CRTAP P4HB SEC24D",0,0],[2052,"Fraser syndrome",1,3,[0],[4,0],4,3,9046,"FRAS1 FREM2 GRIP1",1,0],[2053,"Freeman-Sheldon syndrome",1,3,[1,0],[4,0],5,2,8675,"MYH3 NALCN",1,0],[2056,"Essential fructosuria",0,2,[0],[3],8,1,9252,"KHK",1,0],[2057,"Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome",1,3,[0],[0],5,0,8875,"",0,0],[2058,"Fryns-Smeets-Thiry syndrome",1,3,[],[2],5,0,23201,"",0,0],[2059,"Fryns syndrome",1,3,[0],[4,0],3,1,9253,"PIGN",0,0],[2062,"Progressive non-infectious anterior vertebral fusion",1,3,[2],[2],5,0,16087,"",0,0],[2063,"Splenogonadal fusion-limb defects-micrognathia syndrome",1,3,[],[4,0],5,0,8460,"",0,0],[2064,"Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome",1,3,[1],[2],5,0,8650,"",0,0],[2065,"Galloway-Mowat syndrome",1,3,[0,5],[0,1,2],4,10,9627,"WDR73 NUP107 WDR4 OSGEP TP53RK TPRKB LAGE3 NUP133 GON7 YRDC",0,0],[2066,"Gamma-aminobutyric acid transaminase deficiency",0,2,[0],[0,1],5,1,13166,"ABAT",1,0],[2067,"GAPO syndrome",1,3,[0],[0],5,1,9263,"ANTXR1",1,0],[2069,"Gastrocutaneous syndrome",0,5,[],[5,6],5,0,7651,"",0,0],[2070,"Eosinophilic gastroenteritis",0,12,[2],[3],3,0,16129,"",0,0],[2072,"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",2,2,[0],[2],5,1,9268,"GBA1",1,0],[2073,"Narcolepsy type 1",0,1,[4],[2,5,6],2,8,16158,"HCRT HLA-DRB1 HLA-DQB1 MOG TNFSF4 CTSH P2RY11 ZNF365",0,0],[2074,"Gemignani syndrome",1,3,[0],[6],5,0,16159,"",0,0],[2075,"Genitopalatocardiac syndrome",1,3,[],[4,0],5,0,9270,"",0,0],[2076,"X-linked intellectual disability-epilepsy syndrome",3,1,[7,5],[2],8,0,16160,"",0,0],[2077,"German syndrome",1,3,[0],[0],5,0,9272,"",0,0],[2078,"Geroderma osteodysplastica",1,0,[0],[0],5,2,9271,"GORAB PYCR1",1,0],[2083,"Prominent glabella-microcephaly-hypogenitalism syndrome",1,3,[],[4,0],5,0,9543,"",0,0],[2084,"Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome",1,3,[1],[3],5,1,12013,"FBN1",1,0],[2085,"Glaucoma-sleep apnea syndrome",0,10,[4],[8],5,0,7666,"",0,0],[2086,"Optic pathway glioma",0,11,[2],[3],8,0,16167,"",0,0],[2088,"Fanconi-Bickel syndrome",0,2,[0],[0,1],5,1,9216,"SLC2A2",1,0],[2089,"Glycogen storage disease due to hepatic glycogen synthase deficiency",0,2,[0],[2],5,1,9414,"GYS2",1,0],[2090,"GMS syndrome",1,3,[],[0],5,0,7679,"",0,0],[2091,"Multinodular goiter-cystic kidney-polydactyly syndrome",1,3,[1],[4,0],5,0,7680,"",0,0],[2092,"Focal dermal hypoplasia",1,3,[7],[4,0],5,1,10592,"PORCN",1,0],[2095,"Gorlin-Chaudhry-Moss syndrome",2,14,[0],[0],5,1,12853,"SLC25A24",2,0],[2097,"Grant syndrome",1,0,[4],[0],5,0,7683,"",0,0],[2098,"Acromesomelic dysplasia, Grebe type",1,0,[0],[4,0],8,2,8703,"BMPR1B GDF5",1,0],[2101,"Grubben-de Cock-Borghgraef syndrome",1,3,[],[4,0],5,0,9313,"",0,0],[2102,"GTP cyclohydrolase I deficiency",2,2,[0],[0,1],5,1,100186,"GCH1",1,0],[2103,"Guillain-Barré syndrome",3,1,[3],[3],3,0,16218,"",0,0],[2104,"Dysmorphism-pectus carinatum-joint laxity syndrome",1,3,[4],[0,1],5,0,16219,"",0,0],[2107,"Hall-Riggs syndrome",1,3,[0],[0],5,0,9320,"",0,0],[2108,"Hallermann-Streiff syndrome",1,3,[2,4],[4,0,1],3,1,9318,"CHD6",0,0],[2110,"Hallux varus-preaxial polysyndactyly syndrome",1,3,[],[0],5,0,9321,"",0,0],[2111,"Cystic hamartoma of lung and kidney",0,3,[4],[1],5,0,23275,"",0,0],[2114,"Hip dysplasia, Beukes type",0,0,[1],[2],8,1,7726,"UFSP2",1,0],[2115,"Harrod syndrome",1,3,[],[0,1],5,0,10993,"",0,0],[2116,"Hartnup disease",0,2,[0],[3],3,2,9324,"SLC6A19 CLTRN",1,0],[2117,"Hartsfield syndrome",1,3,[1,0],[4],5,1,14196,"FGFR1",1,0],[2118,"Hawkinsinuria",0,2,[1],[0,1],5,1,7700,"HPD",1,0],[2119,"HEC syndrome",1,7,[4],[0],5,0,10901,"",0,0],[2122,"Kaposiform hemangioendothelioma",0,23,[2],[3],8,1,16236,"GNA14",0,0],[2123,"Multifocal infantile hemangioma with extracutenous involvement",0,3,[2],[0],5,0,16237,"",0,0],[2126,"Solitary fibrous tumor",0,11,[2],[3],8,2,16238,"STAT6 NAB2",0,0],[2128,"Isolated hemihyperplasia",6,3,[1],[1,2,5],3,3,9331,"H19 KCNQ1OT1 IGF2",0,0],[2130,"Non-syndromic hemimelia",3,3,[2],[0],8,0,16240,"",0,0],[2131,"Alternating hemiplegia of childhood",0,1,[1,2],[0,1],4,8,16241,"SCN2A CACNA1A ATP1A2 ATP1A3 SLC2A1 MT-TL2 SLC1A3 RHOBTB2",0,0],[2132,"Hemoglobin C disease",0,4,[0],[3],0,1,16242,"HBB",0,0],[2133,"Hemoglobin E disease",0,4,[0],[3],8,1,16243,"HBB",0,0],[2134,"Atypical hemolytic uremic syndrome",0,13,[1,0,2],[3],3,0,16244,"",3,0],[2135,"Cutaneous mastocytosis-deafness-microtia syndrome",1,3,[0],[0,1],5,0,9569,"",0,0],[2136,"Hennekam syndrome",1,3,[0],[2],5,3,16256,"CCBE1 FAT4 ADAMTS3",0,0],[2137,"Autoimmune hepatitis",0,17,[2],[2,5,6,7],4,0,16264,"",0,0],[2138,"46,XX ovotesticular difference of sex development",1,3,[1,0],[4,0,5],3,3,16281,"SOX9 SRY NR5A1",0,0],[2139,"Hernández-Aguirre Negrete syndrome",1,3,[0],[2],8,0,16290,"",0,0],[2140,"Congenital diaphragmatic hernia",6,3,[3,2],[0],2,3,5711,"ZFPM2 GATA6 LONP1",1,0],[2141,"Diaphragmatic defect-limb deficiency-skull defect syndrome",1,3,[4],[4],5,0,11007,"",0,0],[2143,"Donnai-Barrow syndrome",1,3,[0],[4,0],5,1,9104,"LRP2",1,0],[2145,"Craniosynostosis, Herrmann-Opitz type",1,3,[],[4],5,0,16291,"",0,0],[2148,"Lissencephaly type 1 due to doublecortin gene mutation",0,3,[5],[0,1,2,5],8,1,10239,"DCX",1,0],[2149,"Nodular neuronal heterotopia",6,3,[1,0,7],[3],8,0,16292,"",0,0],[2150,"Hirschsprung disease-type D brachydactyly syndrome",1,3,[],[0],5,0,16294,"",0,0],[2151,"Hirschsprung disease-ganglioneuroblastoma syndrome",1,3,[],[0],8,1,13082,"PHOX2B",0,0],[2152,"Mowat-Wilson syndrome",1,3,[1],[4,0],3,0,9341,"",1,0],[2153,"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome",1,3,[0],[0],5,0,9344,"",0,0],[2155,"Hirschsprung disease-deafness-polydactyly syndrome",1,3,[0],[0],5,0,9342,"",0,0],[2157,"Histidinemia",0,2,[0],[0,1],3,1,9345,"HAL",1,0],[2158,"Histidinuria-renal tubular defect syndrome",0,2,[],[1,2],5,0,9346,"",0,0],[2162,"Holoprosencephaly",1,3,[0,3,2,10,7],[4,0],2,0,16296,"",1,0],[2163,"Holoprosencephaly-craniosynostosis syndrome",1,3,[],[4,0],5,0,11059,"",0,0],[2165,"Holoprosencephaly-caudal dysgenesis syndrome",1,3,[],[4,0],5,0,16299,"",0,0],[2166,"Holoprosencephaly-postaxial polydactyly syndrome",1,3,[0],[4,0],8,0,9921,"",0,0],[2167,"Holzgreve syndrome",1,3,[],[4,0],5,0,9350,"",0,0],[2169,"Methylcobalamin deficiency type cblE",2,2,[0],[2],5,1,9354,"MTRR",1,0],[2170,"Methylcobalamin deficiency type cblG",2,2,[0],[3],5,1,9609,"MTR",1,0],[2172,"Microcephaly-glomerulonephritis-marfanoid habitus syndrome",1,3,[0],[0],5,0,9565,"",0,0],[2176,"Infantile systemic hyalinosis",2,0,[0],[0,1],5,1,16331,"ANTXR2",0,0],[2177,"Hydranencephaly",1,3,[0,4],[4,0],3,1,16344,"NDE1",0,0],[2180,"Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome",1,3,[4],[0],5,0,10972,"",0,0],[2181,"Hydrocephaly-tall stature-joint laxity syndrome",1,3,[0],[1],5,0,9363,"",0,0],[2182,"Hydrocephalus with stenosis of the aqueduct of Sylvius",2,3,[5],[4,0],8,1,10611,"L1CAM",1,0],[2183,"Hydrocephalus-obesity-hypogonadism syndrome",1,3,[5],[0,1],5,0,16346,"",0,0],[2184,"Hydrocephaly-low insertion umbilicus syndrome",1,3,[],[0],5,0,43164,"",0,0],[2185,"Congenital hydrocephalus",1,3,[2],[4],2,0,16349,"",1,0],[2186,"Hydrocephalus-blue sclerae-nephropathy syndrome",1,3,[4],[8],5,0,16350,"",0,0],[2189,"Hydrolethalus",1,3,[0],[4,0],3,2,6037,"HYLS1 KIF7",1,0],[2195,"Dicarboxylic aminoaciduria",0,2,[0],[0,1],3,1,9110,"SLC1A1",1,0],[2196,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement",2,13,[0],[2],7,1,9548,"CLDN19",1,0],[2197,"Idiopathic hypercalciuria",0,13,[1],[2,5,6],6,1,700418,"ADCY10",0,0],[2198,"Palmoplantar keratoderma-esophageal carcinoma syndrome",0,5,[1],[5,6],5,1,7856,"RHBDF2",1,0],[2199,"Epidermolytic palmoplantar keratoderma",0,5,[1],[0,1],3,3,7758,"KRT1 KRT16 KRT9",1,0],[2200,"Focal palmoplantar and gingival keratoderma",0,5,[],[2],5,0,7860,"",0,0],[2201,"Palmoplantar keratoderma-spastic paralysis syndrome",0,5,[1],[3],5,0,16353,"",0,0],[2202,"Palmoplantar keratoderma-deafness syndrome",0,3,[1,6],[2],5,2,7852,"GJB2 MT-TS1",1,0],[2203,"Hyperlysinemia",0,2,[0],[3],8,1,9388,"AASS",1,0],[2204,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type",2,0,[],[4],5,0,100527,"",0,0],[2206,"Ankylosing vertebral hyperostosis with tylosis",1,3,[1],[6],5,0,7127,"",0,0],[2207,"Familial primary hyperparathyroidism",3,15,[1],[2],8,0,16365,"",0,0],[2209,"Maternal phenylketonuria syndrome",1,3,[0],[4,0],2,1,16366,"PAH",0,0],[2211,"Hypertelorism-hypospadias-polysyndactyly syndrome",1,3,[0],[0],5,0,9402,"",0,0],[2213,"Hypertelorism-microtia-facial clefting syndrome",1,3,[0],[4,0],5,0,9404,"",0,0],[2215,"Multiple pterygium-malignant hyperthermia syndrome",1,3,[0],[0],5,0,9012,"",0,0],[2216,"Maternal hyperthermia-induced birth defects",1,3,[],[4,0],6,0,16378,"",0,0],[2218,"Cervical hypertrichosis-peripheral neuropathy syndrome",0,3,[0],[2],5,0,9405,"",0,0],[2220,"Hypertrichosis cubiti",1,3,[1],[2],5,0,7693,"",0,0],[2221,"Acquired hypertrichosis lanuginosa",0,5,[2],[6],5,0,16380,"",0,0],[2222,"Hypertrichosis lanuginosa congenita",0,5,[1],[2],5,0,16381,"",0,0],[2224,"Hypertryptophanemia",0,2,[0],[0,1,2],5,1,10907,"TDO2",0,0],[2228,"Hypodontia-dysplasia of nails syndrome",1,3,[1],[2],8,1,8582,"MSX1",0,0],[2229,"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome",1,3,[0],[0,1],5,1,8915,"LMNA",0,0],[2230,"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome",0,15,[1],[2],5,0,16384,"",0,0],[2232,"Primary hypergonadotropic hypogonadism-partial alopecia syndrome",0,15,[0],[0],5,0,9420,"",0,0],[2233,"Hypogonadism-mitral valve prolapse-intellectual disability syndrome",0,15,[4],[1],5,0,16385,"",0,0],[2234,"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome",1,3,[4],[0],5,0,10617,"",0,0],[2235,"Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome",0,10,[4],[8],5,0,16386,"",0,0],[2237,"Hypoparathyroidism-sensorineural deafness-renal disease syndrome",1,13,[1],[3],5,1,7797,"GATA3",1,0],[2238,"Familial isolated hypoparathyroidism",0,15,[1,0,5],[3],5,0,16390,"",0,0],[2239,"Familial isolated hypoparathyroidism due to agenesis of parathyroid gland",2,15,[0,5],[0,1],5,1,10618,"GCM2",0,0],[2241,"Megacystis-microcolon-intestinal hypoperistalsis syndrome",1,3,[1,0],[4,0,1],5,4,100354,"MYH11 MYLK ACTG2 LMOD1",1,0],[2246,"Cerebellar hypoplasia-tapetoretinal degeneration syndrome",1,1,[],[1],5,0,16392,"",0,0],[2248,"Hypoplastic left heart syndrome",6,3,[4],[4,0],2,2,4933,"GJA1 NKX2-5",0,0],[2249,"Ulna hypoplasia-intellectual disability syndrome",1,3,[0],[0,1],5,0,10165,"",0,0],[2250,"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome",0,3,[1,4],[4,0],5,1,11323,"SMCHD1",1,0],[2251,"Thumb deformity-alopecia-pigmentation anomaly syndrome",1,3,[],[0,1],5,0,8562,"",0,0],[2252,"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome",1,3,[],[0],5,0,8357,"",0,0],[2253,"Foveal hypoplasia-presenile cataract syndrome",0,10,[1],[6],5,1,16395,"PAX6",0,0],[2254,"Pontocerebellar hypoplasia type 1",2,3,[0],[0],5,6,16396,"VRK1 EXOSC3 EXOSC8 SLC25A46 EXOSC9 AGTPBP1",0,0],[2255,"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome",0,15,[1],[3],5,1,10802,"GATA6",2,0],[2256,"Fibulo-ulnar hypoplasia-renal anomalies syndrome",1,3,[],[4,0],5,0,9233,"",0,0],[2257,"Primary pulmonary hypoplasia",6,3,[],[4,0],5,0,9936,"",0,0],[2260,"Oligomeganephronia",6,3,[3],[3],6,0,16407,"",0,0],[2261,"Hypospadias-intellectual disability, Goldblatt type syndrome",1,3,[],[0,1],5,0,9435,"",0,0],[2266,"Hypotrichosis-intellectual disability, Lopes type",0,3,[0],[1,2],5,0,16414,"",0,0],[2268,"ICF syndrome",1,16,[0],[2],5,5,133,"DNMT3B ZBTB24 CDCA7 HELLS UHRF1",0,0],[2269,"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome",0,3,[0],[0,1],5,0,9444,"",0,0],[2271,"Congenital ichthyosis-microcephalus-tetraplegia syndrome",0,5,[4],[0,1],5,0,16417,"",0,0],[2272,"Ichthyosis-oral and digital anomalies syndrome",1,3,[0],[0,1],5,0,9792,"",0,0],[2273,"Ichthyosis follicularis-alopecia-photophobia syndrome",0,5,[1,2,5],[0,1],5,1,100212,"MBTPS2",1,0],[2274,"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome",0,1,[0,5],[0,1],5,0,9445,"",0,0],[2278,"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome",1,3,[],[0],5,0,9446,"",0,0],[2282,"Dysmorphism-short stature-deafness-difference of sex development syndrome",1,3,[0],[0,1],5,0,16433,"",0,0],[2285,"Primary basilar invagination",6,1,[1],[3],8,0,7188,"",0,0],[2287,"Fused mandibular incisors",6,6,[],[2,5,6],6,0,7820,"",0,0],[2289,"Neuronal intranuclear inclusion disease",0,1,[1],[1,2,5,6],8,1,11327,"NOTCH2NLC",0,0],[2290,"Microvillus inclusion disease",0,12,[0],[0,1],5,2,9635,"MYO5B STX3",2,0],[2291,"Congenital velopharyngeal incompetence",6,18,[1],[0],5,0,8180,"",0,0],[2295,"Familial articular hypermobility syndrome",0,14,[1],[1,2,5],8,0,7842,"",0,0],[2297,"Insulin-resistance syndrome type A",0,15,[1,0],[2,5,6],8,1,12520,"INSR",1,0],[2298,"Insulin-resistance syndrome type B",0,15,[2],[2,5,6,7],6,0,16464,"",0,0],[2299,"Aortic arch interruption",6,3,[2],[0,1],8,0,9010,"",0,0],[2300,"Isolated multiple intestinal atresia",6,3,[0],[4,0],3,0,9465,"",1,0],[2301,"Congenital short bowel syndrome",6,3,[0,5],[0,1],5,2,14097,"FLNA CLMP",0,0],[2302,"Asbestos intoxication",0,9,[],[3],6,0,16466,"",0,0],[2305,"Isotretinoin syndrome",1,3,[2],[4,0,1],8,0,16467,"",0,0],[2306,"Isotretinoin-like syndrome",1,3,[0,5],[0,1],5,0,9473,"",0,0],[2307,"IVIC syndrome",1,3,[1],[4,0],5,1,7836,"SALL4",0,0],[2308,"Jacobsen syndrome",1,3,[2,4],[4],3,1,7838,"FLI1",0,0],[2309,"Pachyonychia congenita",0,5,[1,0],[3],5,4,16471,"KRT16 KRT17 KRT6A KRT6B",0,0],[2310,"Absence deformity of leg-cataract syndrome",1,3,[],[4],5,0,9516,"",0,0],[2311,"Autosomal recessive spondylocostal dysostosis",1,3,[0],[4,0],8,6,10180,"DLL3 MESP2 LFNG HES7 TBX6 RIPPLY2",0,0],[2312,"Transient familial neonatal hyperbilirubinemia",0,17,[],[0],8,1,9383,"UGT1A1",0,0],[2314,"Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency",0,16,[1],[0,1],3,1,7818,"STAT3",1,0],[2315,"Johanson-Blizzard syndrome",1,3,[0],[4,0,1],4,1,9479,"UBR1",1,0],[2316,"Johnson neuroectodermal syndrome",1,3,[1],[2],5,0,7837,"",0,0],[2318,"Joubert syndrome with oculorenal defect",2,3,[0],[0,1],5,7,9480,"CEP290 CC2D2A TMEM216 TMEM237 TMEM138 ZNF423 TMEM231",0,0],[2319,"Juberg-Hayward syndrome",1,3,[1,0],[4,0],5,1,8992,"ESCO2",0,0],[2321,"Jung syndrome",1,3,[],[0,1],5,0,11078,"",0,0],[2322,"Kabuki syndrome",1,3,[1,2],[4,0,1],3,2,16512,"KMT2D KDM6A",1,0],[2323,"Sanjad-Sakati syndrome",1,3,[0],[0,1],8,1,9426,"TBCE",1,0],[2324,"Osteopenia-intellectual disability-sparse hair syndrome",1,0,[0],[0,1],5,0,9814,"",0,0],[2325,"Epidermolysis bullosa simplex with anodontia/hypodontia",1,5,[],[0,1],5,0,16514,"",0,0],[2326,"Kallmann syndrome-heart disease syndrome",1,3,[0],[0,1],5,0,16515,"",0,0],[2328,"Kapur-Toriello syndrome",1,3,[0],[0,1],5,0,9483,"",0,0],[2329,"Karsch-Neugebauer syndrome",1,3,[1],[0,1],5,0,8466,"",0,0],[2330,"Kasabach-Merritt phenomenon",5,4,[2],[0,1],6,0,7708,"",0,0],[2331,"Kawasaki disease",0,14,[3],[1,2,5,6],8,0,12727,"",0,0],[2332,"KBG syndrome",1,3,[1],[0,1,2,5],5,1,7846,"ANKRD11",1,0],[2333,"Kenny-Caffey syndrome",1,0,[1,0],[2],5,0,16516,"",0,0],[2334,"Autosomal dominant keratitis",0,10,[1],[2],8,1,7848,"PAX6",0,0],[2337,"Diffuse palmoplantar keratoderma, Bothnian type",0,5,[1],[1,2],8,1,10849,"AQP5",1,0],[2338,"Isolated punctate palmoplantar keratoderma",3,5,[1],[],8,0,16518,"",0,0],[2339,"Keratosis follicularis-dwarfism-cerebral atrophy syndrome",1,3,[5],[0,1],5,0,10638,"",0,0],[2340,"Keratosis follicularis spinulosa decalvans",0,5,[1,0,5],[2],8,3,136,"MBTPS2 SAT1 LRP1",1,0],[2342,"Haim-Munk syndrome",0,3,[0],[1,2],5,1,9491,"CTSC",1,0],[2345,"Isolated Klippel-Feil syndrome",1,3,[1,0,2],[4,0,1],3,3,16520,"GDF6 GDF3 MEOX1",0,0],[2347,"Lethal Kniest-like dysplasia",1,0,[0],[0],5,0,9498,"",0,0],[2348,"Familial partial lipodystrophy, Dunnigan type",0,15,[1],[2,5,6,7],8,1,7906,"LMNA",1,0],[2349,"Muscular pseudohypertrophy-hypothyroidism syndrome",0,15,[],[2],8,0,16521,"",0,0],[2351,"Kousseff syndrome",1,3,[],[4,0,1],5,0,16522,"",0,0],[2353,"Schilbach-Rott syndrome",1,3,[1],[0,1],5,1,8113,"PTCH1",0,0],[2357,"Bronchogenic cyst",6,9,[4],[3],8,0,16523,"",0,0],[2363,"Lacrimoauriculodentodigital syndrome",1,3,[1],[4,0],5,3,7872,"FGF10 FGFR3 FGFR2",0,0],[2364,"Glycogen storage disease due to lactate dehydrogenase deficiency",0,2,[],[2],8,0,16527,"",0,0],[2368,"Gastroschisis",6,3,[2],[4],2,0,9264,"",0,0],[2369,"Limb body wall complex",1,3,[2],[4,0,1],3,0,16528,"",0,0],[2370,"Larsen-like osseous dysplasia-short stature syndrome",1,0,[],[0],5,0,12055,"",0,0],[2371,"Lethal Larsen-like syndrome",1,0,[0],[0],5,0,9512,"",0,0],[2372,"Laryngocele",1,18,[],[3],5,0,16530,"",0,0],[2373,"Congenital laryngomalacia",1,18,[],[0,1],2,0,7878,"",0,0],[2374,"Isolated congenital laryngeal web",1,18,[],[0,1],6,0,7880,"",0,0],[2375,"Laryngeal abductor paralysis-intellectual disability syndrome",1,3,[5],[2],5,0,10639,"",0,0],[2377,"Laurence-Moon syndrome",1,3,[0],[0],8,1,9514,"PNPLA6",0,0],[2378,"Laurin-Sandrow syndrome",1,3,[1],[4,0],5,1,7615,"LMBR1",1,0],[2379,"Early-onset parkinsonism-intellectual disability syndrome",0,3,[5],[1],5,1,10709,"RAB39B",1,0],[2380,"Legg-Calvé-Perthes disease",0,0,[1,3],[2],3,1,7885,"COL2A1",1,0],[2382,"Lennox-Gastaut syndrome",0,1,[1,3,2],[1,2],2,8,16532,"SCN1A CACNA1A CACNA1A GABRB3 MAPK10 CHD2 DNM1 CUX2",0,0],[2386,"Leukoencephalopathy-palmoplantar keratoderma syndrome",0,5,[0],[2],5,0,16545,"",0,0],[2387,"Leukonychia totalis",0,5,[1,0],[0],5,1,16557,"PLCD1",0,0],[2388,"Choreoacanthocytosis",0,1,[0],[6],8,1,8695,"VPS13A",1,0],[2390,"Lichtenstein syndrome",0,16,[0],[0,1],5,0,9523,"",0,0],[2391,"Congenitally short costocoracoid ligament",1,3,[1],[0,1],5,0,7388,"",0,0],[2394,"Pyruvate dehydrogenase E3 deficiency",2,2,[0],[2],5,1,9529,"DLD",1,0],[2396,"Encephalocraniocutaneous lipomatosis",0,5,[2],[4,0],5,2,13074,"FGFR1 KRAS",1,0],[2398,"Multiple symmetric lipomatosis",0,5,[1,0,6,2],[2,5,6,7],3,1,7908,"MFN2",0,0],[2399,"Nasopalpebral lipoma-coloboma syndrome",1,3,[1],[0],5,0,8182,"",0,0],[2400,"Peripheral motor neuropathy-dysautonomia syndrome",0,1,[4],[2],5,0,9648,"",0,0],[2404,"Loiasis",0,8,[2],[3],5,0,16566,"",0,0],[2405,"Thickened earlobes-conductive deafness syndrome",1,18,[1],[3],5,0,7504,"",0,0],[2406,"Locked-in syndrome",9,1,[2],[3],5,0,16567,"",0,0],[2407,"Laryngo-onycho-cutaneous syndrome",0,5,[0],[0,1],5,1,9513,"LAMA3",1,0],[2408,"Lowe-Kohn-Cohen syndrome",1,3,[],[4,0],5,0,16568,"",0,0],[2409,"Lowry-MacLean syndrome",1,3,[1],[0,1],5,0,10851,"",0,0],[2410,"Hypergonadotropic hypogonadism-cataract syndrome",1,3,[0],[5],5,0,9417,"",0,0],[2412,"Dislocation of the hip-dysmorphism syndrome",1,3,[0],[0,1],5,1,11081,"TRIM33",0,0],[2414,"Congenital pulmonary lymphangiectasia",0,3,[0],[0],6,0,9933,"",0,0],[2415,"Rare lymphatic malformation",4,23,[2],[0,1],2,0,2013,"",0,0],[2416,"Congenital primary lymphedema without systemic or visceral involvement",3,3,[],[],8,0,0,"",0,0],[2420,"Primary pulmonary lymphoma",0,11,[2],[6,7],8,0,16570,"",0,0],[2427,"Macrocephaly-short stature-paraplegia syndrome",1,3,[4],[6],5,0,16571,"",0,0],[2429,"Macrocephaly-spastic paraplegia-dysmorphism syndrome",1,3,[0],[2],8,0,10858,"",0,0],[2430,"Congenital macroglossia",1,3,[],[0],3,0,7927,"",0,0],[2432,"Macrosomia-microphthalmia-cleft palate syndrome",1,3,[],[4,0],5,0,9547,"",0,0],[2435,"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome",0,5,[4],[0,1],5,0,16574,"",0,0],[2437,"Czeizel-Losonci syndrome",1,3,[1],[4,0,1],5,0,8467,"",0,0],[2438,"Hand-foot-genital syndrome",1,3,[1],[4,0],5,1,7698,"HOXA13",1,0],[2439,"Patterson-Stevenson-Fontaine syndrome",1,3,[1],[4,0],5,0,8465,"",0,0],[2440,"Isolated split hand-split foot malformation",1,3,[1,0,5],[0,1],3,8,16576,"TP63 SEM1 WNT10B DLX5 BTRC DLX6 EPS15L1 FBXW4",3,0],[2442,"X-linked lymphoproliferative disease",3,16,[5],[1,2,5,6],5,0,10627,"",0,0],[2443,"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies",4,2,[0],[3],8,0,16578,"",0,0],[2444,"Congenital pulmonary airway malformation",1,3,[2],[4,0,5,6],3,0,16580,"",0,0],[2445,"Conotruncal heart malformations",4,3,[],[],8,0,16581,"",3,0],[2447,"Congenital mitral malformation",4,3,[],[],8,0,16582,"",0,0],[2451,"Mucocutaneous venous malformations",1,3,[1],[3],7,1,10842,"TEK",1,0],[2456,"Familial supernumerary nipples",6,19,[],[0,1],5,0,8101,"",0,0],[2457,"Mandibuloacral dysplasia",1,0,[0],[0,1],5,0,16584,"",0,0],[2459,"Mansonelliasis",0,8,[2],[3],8,0,5838,"",0,0],[2460,"Van den Ende-Gupta syndrome",1,3,[0],[0,1],5,1,10959,"SCARF2",1,0],[2461,"Marden-Walker syndrome",1,3,[0],[4,0,1],5,1,9564,"PIEZO2",1,0],[2462,"Shprintzen-Goldberg syndrome",1,3,[1,3,2],[4,0,1],5,2,8426,"FBN1 SKI",1,0],[2463,"Marfanoid habitus-autosomal recessive intellectual disability syndrome",1,3,[0],[1,2],5,0,9566,"",0,0],[2464,"Marfanoid syndrome, De Silva type",1,3,[],[2,6],5,0,9120,"",0,0],[2466,"MASA syndrome",2,3,[5],[0],8,1,10559,"L1CAM",1,0],[2467,"Systemic mastocytosis",3,11,[2],[3],2,0,16586,"",0,0],[2470,"Matthew-Wood syndrome",1,3,[1,0],[4,0],5,2,11010,"STRA6 WNT7B",1,0],[2471,"McDonough syndrome",1,3,[],[0,1],5,0,9570,"",0,0],[2473,"McKusick-Kaufman syndrome",1,3,[0],[4,0],2,1,9367,"MKKS",1,0],[2475,"White forelock with malformations",1,3,[],[0,1],5,0,10199,"",0,0],[2476,"Dysraphism-cleft lip/palate-limb reduction defects syndrome",1,3,[],[4],5,0,16604,"",0,0],[2477,"Isolated megalencephaly",1,3,[0],[4,0],8,1,16608,"TBC1D7",0,0],[2478,"Megalencephalic leukoencephalopathy with subcortical cysts",0,1,[1,0],[0,1],5,4,11391,"AQP4 GPRC5B MLC1 HEPACAM",0,0],[2479,"Megalocornea-intellectual disability syndrome",1,3,[],[0,1,2],5,0,9577,"",0,0],[2481,"Neurocutaneous melanocytosis",0,5,[2],[2],3,0,9578,"",0,0],[2482,"Melhem-Fahl syndrome",1,3,[],[0],5,0,16622,"",0,0],[2483,"Melkersson-Rosenthal syndrome",1,5,[],[2],8,0,7969,"",0,0],[2484,"Melnick-Needles syndrome",1,0,[7],[2],5,1,10650,"FLNA",1,0],[2485,"Melorheostosis",1,0,[2],[3],5,0,7970,"",0,0],[2487,"Lower limb malformation-hypospadias syndrome",1,3,[],[0],5,0,16639,"",0,0],[2489,"Upper limb defect-eye and ear abnormalities syndrome",1,3,[],[0,1],5,0,10125,"",0,0],[2491,"Müllerian duct anomalies-limb anomalies syndrome",1,3,[],[0],5,0,7795,"",0,0],[2492,"FATCO syndrome",1,3,[],[4,0],5,0,16641,"",0,0],[2494,"Ménétrier disease",0,12,[1,2,4],[2,5,6],8,0,7652,"",0,0],[2495,"Meningioma",0,11,[2],[3],3,12,16642,"PIK3CA SMARCB1 SUFU NF2 TERT PDGFB AKT1 BAP1 BAP1 SMARCE1 SMO TRAF7",0,0],[2496,"Mesomelia-synostoses syndrome",1,0,[1],[4,0,1],5,0,10881,"",0,0],[2497,"Upper limb mesomelic dysplasia, type Fryns",1,0,[],[0],5,0,8620,"",0,0],[2498,"Syndactyly type 8",6,3,[1,5],[],8,1,10669,"FGF16",1,0],[2499,"Metachondromatosis",1,0,[1],[2],5,1,7979,"PTPN11",1,0],[2500,"Acrogeria",1,5,[4],[1,2],5,1,8716,"COL3A1",0,0],[2501,"Metaphyseal chondrodysplasia, Spahr type",0,0,[0],[2],5,1,9597,"MMP13",1,0],[2502,"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome",1,0,[0],[0,1],5,0,9599,"",0,0],[2504,"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome",1,0,[1],[0,1],5,1,7984,"RUNX2",1,0],[2505,"Multiple benign circumferential skin creases on limbs",0,5,[1,0],[0,1],5,2,7990,"MAPRE2 TUBB",0,0],[2508,"Corpus callosum agenesis-abnormal genitalia syndrome",1,3,[5],[0,1],8,1,10224,"ARX",0,0],[2510,"Micro syndrome",1,3,[0],[2],5,4,16649,"RAB3GAP1 RAB3GAP2 RAB18 TBC1D20",3,0],[2511,"Microbrachycephaly-ptosis-cleft lip syndrome",1,3,[0],[0,1],5,0,10007,"",0,0],[2512,"Autosomal recessive primary microcephaly",7,3,[0],[4,0],4,29,16660,"CDK5RAP2 CPAP ASPM MCPH1 STIL WDR62 CEP152 CEP135 KNL1 PHC1 CDK6 CENPE SASS6 MFSD2A KIF14 ANKLE2 CIT TAF13 PYCR2 SARS1 WARS1 COPB2 NCAPD3 NUP37 TRAPPC14 METTL5 TRAPPC10 MCM7 PDCD6IP",4,0],[2513,"Microcephaly-albinism-digital anomalies syndrome",1,3,[4],[0,1],5,0,8750,"",0,0],[2514,"Autosomal dominant primary microcephaly",7,3,[1],[4,0,1],8,2,7988,"LMNB1 DPP6",0,0],[2515,"Microcephaly-cardiomyopathy syndrome",1,3,[0],[0,1],5,0,9618,"",0,0],[2516,"Microcephaly-cardiac defect-lung malsegmentation syndrome",1,3,[0],[0,1],5,0,11050,"",0,0],[2518,"Autosomal recessive chorioretinopathy-microcephaly syndrome",1,10,[0],[0],8,3,9624,"TUBGCP6 PLK4 TUBGCP4",1,0],[2519,"Microcephaly-seizures-intellectual disability-heart disease syndrome",1,3,[4],[0,1],5,0,16719,"",0,0],[2521,"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome",1,3,[4],[0,1],5,0,16750,"",0,0],[2522,"Microcephaly-cervical spine fusion anomalies syndrome",1,3,[0],[4,0],5,0,9621,"",0,0],[2523,"Microcephaly-brain defect-spasticity-hypernatremia syndrome",1,3,[],[0],5,0,16758,"",0,0],[2524,"Pontocerebellar hypoplasia type 2",2,3,[0],[0,1],6,5,16759,"TSEN54 TSEN34 TSEN2 SEPSECS TSEN15",0,0],[2526,"Microcephaly-chorioretinopathy-lymphedema syndrome",1,3,[1],[0],5,1,7918,"KIF11",1,0],[2528,"Microcephaly-microcornea syndrome, Seemanova type",1,3,[],[0,1],5,0,16760,"",0,0],[2533,"Microcephaly-deafness-intellectual disability syndrome",1,3,[],[0,1],5,0,7991,"",0,0],[2536,"Microcornea-glaucoma-absent frontal sinuses syndrome",1,3,[],[0,1,2],5,0,7992,"",0,0],[2538,"Microgastria-limb reduction defect syndrome",1,3,[2],[0,1],5,0,7993,"",0,0],[2542,"Isolated microphthalmia-anophthalmia-coloboma",3,10,[1,0,5],[4,0],3,0,16764,"",2,0],[2547,"Microphthalmia-microtia-fetal akinesia syndrome",1,3,[],[4,0],5,0,43143,"",0,0],[2549,"Oculoauriculovertebral spectrum with radial defects",1,3,[],[4,0],5,0,7712,"",1,0],[2551,"Microspherophakia-metaphyseal dysplasia syndrome",1,3,[1],[0,1],8,0,7998,"",0,0],[2552,"Microsporidiosis",0,8,[2],[3],6,0,5846,"",0,0],[2554,"Ear-patella-short stature syndrome",1,3,[1,0],[4,0],5,7,16817,"ORC4 ORC6 CDT1 CDC6 ORC1 GMNN CDC45",1,0],[2556,"Microphthalmia with linear skin defects syndrome",1,3,[7],[0],5,3,10672,"HCCS COX7B NDUFB11",0,0],[2557,"Mietens syndrome",1,3,[0],[0,1],5,0,9582,"",0,0],[2558,"Mikati-Najjar-Sahli syndrome",1,3,[0],[0,1],5,0,16818,"",0,0],[2560,"Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome",1,1,[2],[0,1],5,0,16819,"",0,0],[2561,"Pyramidal molars-abnormal upper lip syndrome",1,3,[0],[2],5,0,8706,"",0,0],[2563,"MOMO syndrome",1,3,[0],[0,1],5,0,8008,"",0,0],[2564,"Tetramelic monodactyly",1,3,[1],[4],5,0,8544,"",0,0],[2565,"Mononen-Karnes-Senac syndrome",1,3,[7],[0,1],5,0,10538,"",0,0],[2566,"Chronic Epstein-Barr virus infection syndrome",0,8,[4],[2,5,6],6,0,9194,"",1,0],[2570,"Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome",1,3,[5],[4],5,1,10610,"GPKOW",1,0],[2571,"Woods-Black-Norbury syndrome",0,1,[7],[],8,0,10243,"",0,0],[2572,"Spastic ataxia-corneal dystrophy syndrome",0,1,[0],[2],5,0,10064,"",0,0],[2573,"Moyamoya disease",0,1,[1,0,3,5],[3],3,4,16820,"DIAPH1 ACTA2 RNF213 ANO1",3,0],[2575,"Cystic fibrosis-gastritis-megaloblastic anemia syndrome",0,12,[0],[1],5,0,9062,"",0,0],[2576,"Mulibrey nanism",1,3,[0],[4,0,1,2],3,1,9664,"TRIM37",1,0],[2578,"Mayer-Rokitansky-Küster-Hauser syndrome type 2",2,3,[1,2],[4,0,5],8,2,10989,"WNT4 HNF1B",0,0],[2579,"Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome",0,1,[1],[2],5,0,8023,"",0,0],[2582,"Myalgia-eosinophilia syndrome associated with tryptophan",1,14,[2],[3],6,0,16822,"",0,0],[2583,"Mycetoma",0,8,[2],[3],3,0,16823,"",0,0],[2584,"Classic mycosis fungoides",0,11,[3,2],[6],4,3,9691,"CTLA4 TNFRSF1B CD28",0,0],[2585,"Ataxia-pancytopenia syndrome",1,1,[1],[2,5,6],5,1,8038,"SAMD9L",1,0],[2587,"Myeloperoxidase deficiency",0,16,[0],[3],5,1,9694,"MPO",1,0],[2588,"Myhre syndrome",1,3,[1],[4,0,1],5,1,7688,"SMAD4",1,0],[2589,"Myoclonus-cerebellar ataxia-deafness syndrome",1,3,[1],[2],5,0,8043,"",0,0],[2590,"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome",0,1,[0],[2],5,1,8045,"ASAH1",1,0],[2591,"Infantile myofibromatosis",0,5,[1,0,2],[4,0,1],4,2,16824,"NOTCH3 PDGFRB",0,0],[2593,"Tubular aggregate myopathy",0,1,[1],[2,5,6],5,3,8051,"ORAI1 STIM1 CASQ1",2,0],[2596,"Myopathy and diabetes mellitus",0,1,[6],[0,1,2,5,6],8,1,10773,"MT-TE",0,0],[2597,"Mitochondrial myopathy-lactic acidosis-deafness syndrome",0,2,[11],[2],5,0,16825,"",1,0],[2598,"Mitochondrial myopathy and sideroblastic anemia",0,2,[0],[1,2,5],5,2,863,"PUS1 YARS2",0,0],[2604,"Familial visceral myopathy",0,12,[1],[3],8,1,16829,"ACTG2",1,0],[2608,"N syndrome",1,3,[5],[0,1],5,0,10686,"",0,0],[2609,"Isolated complex I deficiency",0,2,[0,6,7],[3],6,30,100133,"NDUFA9 MT-ND1 MT-ND2 MT-ND3 NDUFAF2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFA1 NDUFAF4 NDUFAF5 NDUFA11 NDUFAF3 NUBPL FOXRED1 NDUFAF1 NDUFB9 NDUFB3 NDUFB11 TMEM126B NDUFA6 NDUFB10 TIMMDC1 NDUFAF8",0,0],[2611,"Linear verrucous nevus syndrome",0,5,[],[0],8,0,16831,"",0,0],[2612,"Linear nevus sebaceus syndrome",0,3,[2],[0,1,2],6,3,8097,"HRAS KRAS NRAS",1,0],[2613,"Nail-patella-like renal disease",0,13,[1],[0,1],5,1,9724,"LMX1B",0,0],[2614,"Nail-patella syndrome",1,3,[1],[4,0,1,2],3,1,8061,"LMX1B",1,0],[2616,"3M syndrome",1,0,[0],[4],6,3,7477,"CUL7 OBSL1 CCDC8",0,0],[2617,"Microcephalic primordial dwarfism, Montreal type",1,3,[],[0,1],5,0,8870,"",0,0],[2619,"Brachydactylous dwarfism, Mseleni type",0,0,[4],[2],8,0,13232,"",0,0],[2623,"Geleophysic dysplasia",1,0,[1,0],[2],5,3,127,"FBN1 ADAMTSL2 LTBP3",0,0],[2631,"Mesomelic dwarfism-cleft palate-camptodactyly syndrome",1,3,[0],[0],5,0,9589,"",0,0],[2632,"Langer mesomelic dysplasia",1,0,[0],[4],5,1,9588,"SHOX",1,0],[2633,"Mesomelic dysplasia, Nievergelt type",1,0,[1],[4,0],5,0,8098,"",0,0],[2634,"Mesomelic dwarfism, Reinhardt-Pfeiffer type",1,0,[1],[4,0,1],8,0,8618,"",0,0],[2635,"Metatropic dysplasia",0,0,[1,2],[4,0],5,1,7986,"TRPV4",1,0],[2636,"Microcephalic osteodysplastic primordial dwarfism types I and III",1,0,[0],[4,0,1],5,1,16994,"RNU4ATAC",0,0],[2637,"Microcephalic osteodysplastic primordial dwarfism type II",1,0,[0],[4,0,1],6,1,8872,"PCNT",1,0],[2639,"Fibular aplasia-complex brachydactyly syndrome",1,3,[0],[4,0],5,2,9231,"BMPR1B GDF5",0,0],[2643,"Microcephalic primordial dwarfism, Toriello type",1,0,[],[4,0],5,0,9616,"",0,0],[2645,"Osteoglosphonic dysplasia",1,0,[1],[0],5,1,8150,"FGFR1",1,0],[2655,"Thanatophoric dysplasia",0,0,[1,2],[4,0],3,0,17042,"",1,0],[2658,"Lenz-Majewski hyperostotic dysplasia",1,0,[1],[4,0,1],5,1,7892,"PTDSS1",1,0],[2662,"Keipert syndrome",1,3,[5],[4,0,1],5,1,9720,"GPC4",1,0],[2663,"Nathalie syndrome",1,3,[],[2],5,0,9721,"",0,0],[2665,"Congenital mesoblastic nephroma",0,11,[],[0,1],8,2,17043,"ETV6 NTRK3",0,0],[2666,"Adult familial nephronophthisis-spastic quadriparesia syndrome",0,13,[4],[6],5,0,17044,"",0,0],[2668,"Nephropathy-deafness-hyperparathyroidism syndrome",1,18,[0],[2],5,0,9729,"",0,0],[2669,"Nephrosis-deafness-urinary tract-digital malformations syndrome",1,3,[4],[0,1],5,0,9731,"",0,0],[2670,"Pierson syndrome",1,13,[0],[0,2],5,1,12184,"LAMB2",1,0],[2671,"Neu-Laxova syndrome",1,3,[0],[4],5,0,179,"",0,0],[2672,"Neuhauser-Eichner-Opitz syndrome",1,1,[1],[1,2],5,0,7539,"",0,0],[2673,"Neurofaciodigitorenal syndrome",1,3,[],[4,0],5,0,9740,"",0,0],[2674,"Cyprus facial-neuromusculoskeletal syndrome",1,3,[1],[4,0],5,0,7413,"",0,0],[2678,"Familial isolated café-au-lait macules",1,5,[1],[2],8,1,7245,"LZTR1",0,0],[2680,"Hypomyelination neuropathy-arthrogryposis syndrome",1,1,[0],[4],5,3,17049,"CNTNAP1 ADCY6 LGI4",0,0],[2686,"Cyclic neutropenia",0,16,[1],[3],8,1,8090,"ELANE",1,0],[2688,"Adult idiopathic neutropenia",0,16,[2],[6],6,0,11922,"",0,0],[2690,"Neutropenia-monocytopenia-deafness syndrome",0,16,[4],[0,1],5,0,17100,"",0,0],[2695,"Bifid nose",1,3,[1,0],[4,0],6,0,110,"",0,0],[2697,"Arthrogryposis-renal dysfunction-cholestasis syndrome",1,3,[0],[0],5,2,17123,"VPS33B VIPAS39",0,0],[2698,"Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome",0,5,[1],[2],5,1,7866,"GJB2",1,0],[2699,"Median nodule of the upper lip",1,3,[1],[0,1],5,0,7904,"",0,0],[2700,"Noma",0,8,[],[2],8,0,17124,"",0,0],[2701,"Noonan syndrome-like disorder with loose anagen hair",1,3,[1],[4,0,1],5,2,11899,"SHOC2 PPP1CB",2,0],[2703,"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome",1,3,[],[4],5,0,100367,"",0,0],[2704,"Urofacial syndrome",1,3,[0],[2],6,2,463,"HPSE2 LRIG2",0,0],[2707,"Oculocerebrofacial syndrome, Kaufman type",1,3,[0],[4,0],5,1,9485,"UBE3B",1,0],[2709,"Oculodental syndrome, Rutherfurd type",1,3,[1],[0,1],5,0,8396,"",0,0],[2710,"Oculodentodigital dysplasia",1,3,[1,0],[0,1],5,1,8111,"GJA1",1,0],[2712,"Oculofaciocardiodental syndrome",1,3,[7],[0,1],8,1,10261,"BCOR",1,0],[2713,"Oculoosteocutaneous syndrome",1,3,[0],[0,1],5,0,8884,"",0,0],[2714,"Oculo-palato-cerebral syndrome",1,3,[0],[4,0,1],5,0,9769,"",0,0],[2715,"Severe oculo-renal-cerebellar syndrome",1,3,[0],[1],5,0,9772,"",0,0],[2717,"Oculotrichoanal syndrome",1,3,[0],[0,1],5,1,9560,"FREM1",1,0],[2718,"Oculotrichodysplasia",1,3,[0],[2],5,0,9771,"",0,0],[2719,"Oculocerebral hypopigmentation syndrome, Cross type",1,3,[],[0],5,0,9767,"",0,0],[2720,"Oculocerebral hypopigmentation syndrome, Preus type",1,3,[],[0],5,0,9766,"",0,0],[2721,"Odonto-onycho-dermal dysplasia",0,3,[0],[2],5,1,9773,"WNT10A",1,0],[2722,"Odonto-onycho dysplasia-alopecia syndrome",1,3,[],[0],5,0,17134,"",0,0],[2723,"Odontotrichomelic syndrome",1,3,[0],[2],5,0,10111,"",0,0],[2724,"Odontomatosis-aortae esophagus stenosis syndrome",1,3,[],[8],5,0,8118,"",0,0],[2728,"Blepharophimosis-intellectual disability syndrome, Ohdo type",1,3,[2],[0,1],5,0,9583,"",0,0],[2730,"Postaxial tetramelic oligodactyly",1,3,[],[0],5,0,8298,"",0,0],[2732,"Olivopontocerebellar atrophy-deafness syndrome",1,3,[0],[0,1],8,0,17135,"",0,0],[2733,"Omodysplasia",1,0,[1,0],[0,1],5,0,17136,"",0,0],[2736,"Lethal omphalocele-cleft palate syndrome",1,3,[0],[4,0],5,0,9780,"",0,0],[2737,"Onchocerciasis",0,8,[2],[3],8,0,17137,"",0,0],[2741,"Ophthalmomandibulomelic dysplasia",1,3,[],[8],5,0,8127,"",0,0],[2743,"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome",1,3,[],[0],5,0,8130,"",0,0],[2744,"Horizontal gaze palsy with progressive scoliosis",0,10,[0],[2,5],8,2,11810,"ROBO3 DCC",0,0],[2745,"Opitz GBBB syndrome",1,3,[5],[4,0,1],8,1,17138,"MID1",0,0],[2746,"Opsismodysplasia",0,0,[0],[0],5,1,9785,"INPPL1",1,0],[2749,"Oromandibular-limb hypogenesis syndrome",3,3,[],[0,1],8,0,17139,"",0,0],[2750,"Orofaciodigital syndrome type 1",1,3,[7],[4,0,1],3,1,10702,"OFD1",1,0],[2751,"Orofaciodigital syndrome type 2",1,3,[0],[4,0,1],5,1,9642,"NEK1",0,0],[2753,"Orofaciodigital syndrome type 4",1,3,[0],[4,0,1],5,1,9794,"TCTN3",1,0],[2754,"Orofaciodigital syndrome type 6",2,3,[0,5],[0,1],5,10,10176,"OFD1 TOPORS TMEM216 KIF7 CPLANE1 TCTN3 TMEM231 PDE6D KIAA0753 FAM149B1",1,0],[2755,"Orofaciodigital syndrome type 8",1,3,[5],[0,1],5,0,10336,"",0,0],[2759,"Imperforate oropharynx-costovertebral anomalies syndrome",1,3,[],[0],5,0,17162,"",0,0],[2760,"OSLAM syndrome",1,3,[1],[0],5,0,8139,"",0,0],[2762,"Progressive osseous heteroplasia",1,0,[1],[1,2],5,1,8153,"GNAS",1,0],[2763,"Osteocraniostenosis",1,0,[1],[4,0],5,1,11215,"FAM111A",1,0],[2764,"Osteochondritis dissecans",0,0,[2],[3],8,0,17178,"",1,0],[2767,"Carpotarsal osteochondromatosis",1,0,[1],[6],8,0,7490,"",0,0],[2768,"Blount disease",1,0,[0],[1,2],8,0,17194,"",0,0],[2769,"Familial osteodysplasia, Anderson type",1,3,[],[0],5,0,9801,"",0,0],[2770,"Nasu-Hakola disease",1,0,[0],[5,6],4,2,9092,"TREM2 TYROBP",0,0],[2771,"Bruck syndrome",1,0,[0],[4,0,1,2],5,2,17195,"PLOD2 FKBP10",0,0],[2772,"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome",1,0,[0],[4,0],5,0,9803,"",0,0],[2773,"Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome",1,0,[4],[0,1],5,0,17196,"",0,0],[2774,"Multicentric carpo-tarsal osteolysis with or without nephropathy",1,0,[1],[2],8,1,8152,"MAFB",1,0],[2776,"Autosomal recessive distal osteolysis syndrome",1,0,[0],[2],8,0,9810,"",0,0],[2777,"Osteomesopyknosis",1,0,[1],[2,5,6],5,0,8155,"",0,0],[2779,"Osteopathia striata-pigmentary dermopathy-white forelock syndrome",1,0,[1,7],[0],5,0,17197,"",0,0],[2780,"Osteopathia striata-cranial sclerosis syndrome",1,0,[7],[4,0,1],5,2,10310,"CTNNB1 AMER1",1,0],[2781,"Osteopetrosis and related disorders",3,0,[1,0,5],[3],8,0,17198,"",1,0],[2783,"Autosomal dominant osteopetrosis type 1",1,0,[1],[2,5],5,1,11877,"LRP5",1,0],[2785,"Osteopetrosis with renal tubular acidosis",0,0,[0],[0,1],5,1,9818,"CA2",1,0],[2786,"Osteoporosis-oculocutaneous hypopigmentation syndrome",1,0,[0],[0,1],5,0,11020,"",0,0],[2788,"Osteoporosis-pseudoglioma syndrome",0,0,[0],[2],8,1,9820,"LRP5",1,0],[2789,"Lateral meningocele syndrome",1,0,[1],[0,1],5,1,7537,"NOTCH3",1,0],[2790,"Endosteal hyperostosis, Worth type",1,0,[1],[5],5,1,7764,"LRP5",1,0],[2791,"Otodental syndrome",1,3,[1],[2],5,1,8161,"FGF3",0,0],[2792,"Otofaciocervical syndrome",1,3,[1,0],[4,0],5,0,8163,"",0,0],[2793,"Otoonychoperoneal syndrome",1,3,[0],[4,0],5,0,9822,"",0,0],[2795,"Fowler urethral sphincter dysfunction syndrome",0,26,[4],[2,5,6],5,0,17200,"",0,0],[2796,"Pachydermoperiostosis",1,0,[1,0],[2],5,2,16620,"HPGD SLCO2A1",1,0],[2798,"Pachygyria-intellectual disability-epilepsy syndrome",1,1,[],[2],5,0,10840,"",0,0],[2800,"Extramammary Paget disease",0,11,[],[6,7],6,1,8177,"ERBB2",0,0],[2801,"Juvenile Paget disease",1,0,[0],[2],5,2,9394,"TNFRSF11A TNFRSF11B",1,0],[2802,"X-linked sideroblastic anemia and spinocerebellar ataxia",0,1,[5],[1,2],5,1,10524,"ABCB7",1,0],[2804,"W syndrome",1,3,[5],[0,1],5,0,10708,"",0,0],[2805,"Partial pancreatic agenesis",6,3,[0],[0,1],5,2,9832,"PTF1A PDX1",0,0],[2806,"Subacute sclerosing leukoencephalitis",0,1,[2],[3],5,0,9835,"",0,0],[2807,"Papilloma of choroid plexus",0,1,[1],[3],5,1,9837,"TP53",0,0],[2808,"Laryngeal abductor paralysis",1,18,[],[0],5,0,7876,"",0,0],[2809,"Familial recurrent peripheral facial palsy",0,1,[],[2,5,6],3,0,7592,"",0,0],[2812,"Parana hard skin syndrome",0,5,[],[1],5,0,9838,"",0,0],[2815,"Spastic paraparesis-deafness syndrome",1,1,[],[2],5,0,10732,"",0,0],[2818,"Spastic paraplegia-glaucoma-intellectual disability syndrome",0,1,[0],[6],5,0,10049,"",0,0],[2819,"Spastic paraplegia-facial-cutaneous lesions syndrome",1,1,[],[1],5,0,17275,"",0,0],[2820,"Spastic paraplegia-nephritis-deafness syndrome",9,1,[1],[8],5,0,8440,"",0,0],[2821,"Spastic paraplegia-neuropathy-poikiloderma syndrome",0,1,[],[2],5,0,8442,"",0,0],[2822,"Autosomal recessive spastic paraplegia type 11",0,1,[0],[1,2,5,6],4,1,11445,"SPG11",1,0],[2824,"Paraplegia-intellectual disability-hyperkeratosis syndrome",1,3,[5],[1],5,0,10662,"",0,0],[2825,"PARC syndrome",1,3,[1],[0,1],5,0,10867,"",0,0],[2826,"Spastic paraplegia-precocious puberty syndrome",0,1,[1],[2],5,0,8443,"",0,0],[2828,"Young-onset Parkinson disease",0,1,[0],[6],2,11,17279,"PINK1 SNCA UCHL1 HTRA2 LRRK2 PRKN PARK7 DNAJC6 SYNJ1 VPS13C PODXL",0,0],[2831,"Rhizomelic dysplasia, Patterson-Lowry type",1,0,[],[1,2],5,0,11079,"",0,0],[2832,"Short tarsus-absence of lower eyelashes syndrome",1,3,[1],[0,1],5,0,10855,"",0,0],[2833,"Stiff skin syndrome",0,5,[1],[0,1,2],5,1,8492,"FBN1",1,0],[2834,"Wrinkly skin syndrome",2,5,[0],[0,1],5,1,10208,"ATP6V0A2",1,0],[2835,"Pectus excavatum-macrocephaly-dysplastic nails syndrome",1,3,[4],[0],5,0,10883,"",0,0],[2836,"PEHO syndrome",0,1,[1,0],[0,1],8,1,9841,"ZNHIT3",1,0],[2838,"Renal caliceal diverticuli-deafness syndrome",1,3,[],[0],5,0,17281,"",0,0],[2839,"Pelvis-shoulder dysplasia",1,3,[1],[0,1],5,0,8217,"",0,0],[2840,"Pelvic dysplasia-arthrogryposis of lower limbs syndrome",1,3,[0],[4,0],5,0,11235,"",0,0],[2841,"Hailey-Hailey disease",0,5,[1],[6],3,1,8218,"ATP2C1",1,0],[2842,"Penoscrotal transposition",6,3,[0,2,5],[0,1],8,0,17285,"",0,0],[2843,"Pentosuria",0,2,[0],[0,1],6,1,9846,"DCXR",1,0],[2846,"Congenital pericardium anomaly",4,3,[2],[3],8,0,17300,"",0,0],[2847,"Pericardial and diaphragmatic defect",1,3,[0,2],[0,1],5,0,17301,"",0,0],[2848,"Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome",0,14,[0],[0,1,2],5,1,8828,"PRG4",1,0],[2849,"Perlman syndrome",1,3,[0],[4,0,1],5,1,9965,"DIS3L2",1,0],[2850,"Alopecia-intellectual disability syndrome",0,3,[0],[0],5,3,8756,"ITGB6 LSS AHSG",0,0],[2854,"Fuhrmann syndrome",1,3,[0],[0,1],5,1,9232,"WNT7A",1,0],[2855,"Perrault syndrome",0,3,[0],[2,5,6],5,0,17312,"",2,0],[2856,"Persistent Müllerian duct syndrome",1,3,[0],[1],7,2,9857,"AMH AMHR2",2,0],[2863,"Short stature-wormian bones-dextrocardia syndrome",1,3,[],[0,1],5,0,8499,"",0,0],[2865,"Short stature-webbed neck-heart disease syndrome",1,3,[4],[0,1],5,0,17315,"",0,0],[2866,"Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome",1,3,[],[4,0],5,0,17316,"",0,0],[2867,"Short stature, Brussels type",1,0,[4],[0,1],5,0,11046,"",0,0],[2868,"Short stature-valvular heart disease-characteristic facies syndrome",1,3,[1],[0,1],5,0,7461,"",0,0],[2869,"Peutz-Jeghers syndrome",0,12,[1],[2,5,6],4,1,8280,"STK11",1,0],[2871,"Pfeiffer-Palm-Teller syndrome",1,3,[],[0],5,0,9858,"",0,0],[2872,"Cardiocranial syndrome, Pfeiffer type",1,3,[1,0,2],[0,1],5,0,9036,"",0,0],[2874,"Phakomatosis pigmentokeratotica",1,3,[4],[0,1],5,1,17317,"HRAS",0,0],[2875,"Phakomatosis pigmentovascularis",0,3,[2],[0],5,0,17318,"",0,0],[2876,"PHAVER syndrome",1,3,[0],[0,1],5,0,9859,"",0,0],[2879,"Phocomelia, Schinzel type",1,3,[0],[4,0,1],8,1,10164,"WNT7A",1,0],[2880,"Phosphoenolpyruvate carboxykinase deficiency",0,2,[0,6],[0,1],5,2,17320,"PCK1 PCK2",0,0],[2881,"Cutaneous photosensitivity-lethal colitis syndrome",0,12,[0],[0,1],5,0,9051,"",0,0],[2882,"Sitosterolemia",0,2,[0],[3],5,2,8863,"ABCG5 ABCG8",2,0],[2884,"Piebaldism",0,5,[1],[0,1],8,2,8244,"SNAI2 KIT",2,0],[2885,"Piebald trait-neurologic defects syndrome",1,5,[],[8],5,0,8245,"",0,0],[2886,"TARP syndrome",1,3,[5],[4,0],5,1,10711,"RBM10",1,0],[2888,"Pierre Robin syndrome-faciodigital anomaly syndrome",1,3,[5],[0,1],5,0,10710,"",0,0],[2889,"Pili torti",0,5,[0],[0,1],8,0,9870,"",0,0],[2890,"Pili torti-onychodysplasia syndrome",1,3,[0],[0,1],5,0,17321,"",0,0],[2891,"Pili torti-developmental delay-neurological abnormalities syndrome",1,5,[],[1],5,0,9871,"",0,0],[2892,"Pilodental dysplasia-refractive errors syndrome",1,3,[0],[0,1],5,0,9873,"",0,0],[2896,"Pitt-Hopkins syndrome",1,3,[1],[0,1],4,2,12589,"TCF4 TCF4",1,0],[2897,"Pityriasis rubra pilaris",0,5,[1,2],[3],4,1,8251,"CARD14",1,0],[2898,"X-linked intellectual disability-plagiocephaly syndrome",1,3,[5],[0,1],5,0,10237,"",0,0],[2899,"Brachyolmia-amelogenesis imperfecta syndrome",1,0,[0],[2],5,1,11018,"LTBP3",1,0],[2900,"Leri pleonosteosis",1,3,[1],[0,1],8,0,7894,"",0,0],[2901,"Neuralgic amyotrophy",0,1,[1,2],[6],2,1,17362,"SEPTIN9",1,0],[2902,"Idiopathic chronic eosinophilic pneumonia",0,9,[2],[3],4,0,17363,"",0,0],[2903,"Familial spontaneous pneumothorax",0,9,[1],[5,6],2,1,8259,"FLCN",1,0],[2905,"POEMS syndrome",0,11,[4],[6,7],4,0,17364,"",0,0],[2907,"Hereditary acrokeratotic poikiloderma",0,5,[],[0,1],5,0,17365,"",0,0],[2908,"Kindler epidermolysis bullosa",0,5,[0],[0,1],4,1,8260,"FERMT1",1,0],[2909,"Rothmund-Thomson syndrome",0,3,[0],[0,1],5,0,10002,"",1,0],[2911,"Poland syndrome",1,3,[1,0,3,2],[4,0,1],3,0,8262,"",0,0],[2912,"Poliomyelitis",0,8,[2],[2],5,0,17373,"",0,0],[2913,"Non-syndromic polydactyly",4,3,[],[],8,0,11348,"",0,0],[2916,"Postaxial polydactyly-dental and vertebral anomalies syndrome",1,3,[],[0],5,0,9895,"",0,0],[2917,"Polydactyly-myopia syndrome",1,3,[1],[0,1],5,0,8268,"",0,0],[2919,"Orofaciodigital syndrome type 5",1,3,[0],[0,1],5,1,8267,"DDX59",1,0],[2920,"Oliver syndrome",1,3,[0],[0,1],5,0,9777,"",0,0],[2921,"Preaxial polydactyly-colobomata-intellectual disability syndrome",1,3,[0],[0,1],5,0,17377,"",0,0],[2924,"Isolated polycystic liver disease",1,17,[1,2],[6],3,4,447,"PRKCSH SEC63 ALG8 LRP5",2,0],[2926,"Digital extensor muscle aplasia-polyneuropathy",1,1,[],[0],5,0,8809,"",0,0],[2928,"Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome",1,1,[],[6],5,0,17379,"",0,0],[2929,"Juvenile polyposis syndrome",0,12,[1],[1,2,5,6],3,0,17380,"",2,0],[2930,"Cronkhite-Canada syndrome",0,3,[2],[6,7],6,0,8283,"",0,0],[2932,"Chronic inflammatory demyelinating polyneuropathy",0,1,[2],[2,5,6,7],3,0,6702,"",0,0],[2934,"Polysyndactyly-cardiac malformation syndrome",1,3,[0],[0,1],5,0,9900,"",0,0],[2935,"Crossed polysyndactyly",1,3,[1],[4],5,0,8286,"",0,0],[2940,"Porencephaly",0,3,[3,2],[4,0,1],3,0,17410,"",0,0],[2941,"Porencephaly-cerebellar hypoplasia-internal malformations syndrome",1,3,[],[4,0],5,0,11036,"",0,0],[2942,"Postpoliomyelitis syndrome",0,1,[2],[5,6,7],6,0,17416,"",0,0],[2946,"Brachydactyly-long thumb syndrome",1,3,[1],[0,1],5,0,7212,"",0,0],[2947,"Triphalangeal thumbs-brachyectrodactyly syndrome",1,3,[1],[0],5,0,8607,"",0,0],[2951,"Absent thumb-short stature-immunodeficiency syndrome",1,3,[4],[0,1],5,0,10123,"",0,0],[2952,"Adducted thumbs-arthrogryposis syndrome, Christian type",1,3,[0],[0],5,0,8724,"",0,0],[2953,"Musculocontractural Ehlers-Danlos syndrome",0,14,[0],[0,1],5,2,11142,"CHST14 DSE",0,0],[2956,"Acrodysplasia scoliosis",1,3,[],[0],5,0,17568,"",0,0],[2957,"Guttmacher syndrome",1,3,[1],[0,1],5,1,8301,"HOXA13",0,0],[2958,"X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome",1,3,[5],[2],5,0,10667,"",1,0],[2959,"Progeria-short stature-pigmented nevi syndrome",1,3,[4],[0,1],5,0,8311,"",0,0],[2962,"De Barsy syndrome",0,2,[0],[4,0,1],5,0,17569,"",0,0],[2963,"Progeroid syndrome, Petty type",2,14,[1],[0],5,1,12853,"SLC25A24",2,0],[2964,"Autosomal dominant prognathism",1,3,[1],[0],6,0,8312,"",1,0],[2965,"Prolactinoma",0,15,[1],[2,5,6,7],2,3,10911,"CDH23 MEN1 AIP",0,0],[2966,"Properdin deficiency",0,16,[5],[1,2,5,6],4,1,10713,"CFP",1,0],[2967,"Haptocorrin deficiency",0,2,[0],[6,7],5,1,8659,"TCN1",1,0],[2968,"Leukocyte adhesion deficiency",0,16,[0],[1,2],6,0,17570,"",0,0],[2969,"Proteus-like syndrome",2,11,[1],[0,1],8,1,17571,"PTEN",0,0],[2970,"Prune belly syndrome",1,3,[1,2,5],[4,0],3,1,7032,"CHRM3",1,0],[2971,"Peroxisomal acyl-CoA oxidase deficiency",0,2,[0],[0],5,1,9919,"ACOX1",1,0],[2972,"Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome",1,3,[11],[2],5,0,10104,"",0,0],[2973,"46,XX difference of sex development-anorectal anomalies syndrome",1,3,[],[0],8,0,17573,"",0,0],[2975,"46,XX difference of sex development-skeletal anomalies syndrome",1,3,[4],[8],5,0,9915,"",0,0],[2976,"Pseudoleprechaunism syndrome, Patterson type",1,15,[],[4,0],5,0,8211,"",0,0],[2978,"Chronic intestinal pseudoobstruction syndrome",9,12,[],[3],8,0,17574,"",0,0],[2980,"Acrootoocular syndrome",1,3,[0],[0,1],8,0,9920,"",0,0],[2982,"46,XX difference of sex development",4,3,[],[],8,0,17576,"",1,0],[2983,"Difference of sex development-intellectual disability syndrome",0,3,[4],[0],5,0,10824,"",0,0],[2985,"Pseudoprogeria syndrome",1,3,[4],[0,1],5,0,8694,"",0,0],[2987,"Antecubital pterygium syndrome",1,5,[1],[0,1],5,0,8339,"",0,0],[2988,"Pterygium colli-intellectual disability-digital anomalies syndrome",1,3,[1,7],[0],5,0,10835,"",0,0],[2989,"Familial pterygium of the conjunctiva",6,10,[1],[5,6],5,0,8337,"",0,0],[2990,"Autosomal recessive multiple pterygium syndrome",1,3,[0],[4,0,1],5,2,9926,"CHRNG MYH3",1,0],[2994,"Short stature-craniofacial anomalies-genital hypoplasia syndrome",1,3,[],[0,1],5,0,8335,"",0,0],[2995,"Baraitser-Winter cerebrofrontofacial syndrome",1,3,[1,2],[4,0,1],5,2,17579,"ACTB ACTG1",1,0],[2997,"Ptosis-vocal cord paralysis syndrome",1,10,[],[0],5,0,8665,"",0,0],[2999,"Ptosis-strabismus-ectopic pupils syndrome",1,10,[1],[0,1,2],5,0,8341,"",0,0],[3000,"Familial peripheral male-limited precocious puberty",0,15,[1],[2],5,1,8303,"LHCGR",1,0],[3002,"Immune thrombocytopenia",0,4,[2],[3],2,1,8558,"FCGR2C",0,0],[3003,"Pyknoachondrogenesis",1,0,[0],[4,0],5,0,9942,"",0,0],[3004,"Mirror polydactyly-vertebral segmentation-limbs defects syndrome",1,3,[],[4,0,1],4,0,17583,"",0,0],[3005,"Pyle disease",0,0,[0],[0,1],5,1,9943,"SFRP4",1,0],[3006,"Pyridoxine-dependent-developmental and epileptic encephalopathy",0,1,[0],[4,0,1],4,2,9945,"ALDH7A1 PLPBP",2,0],[3008,"Pyruvate carboxylase deficiency",0,2,[0,2],[0,1],4,0,9949,"",1,0],[3010,"Qazi-Markouizos syndrome",0,1,[],[0,1],5,0,10816,"",0,0],[3011,"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome",0,3,[0],[2],5,0,10051,"",0,0],[3015,"Radio-renal syndrome",1,3,[],[0],5,0,8359,"",0,0],[3016,"Absent radius-anogenital anomalies syndrome",1,3,[],[4,0],5,0,10718,"",0,0],[3018,"Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome",1,23,[4],[0,1],5,0,10177,"",0,0],[3019,"Ramon syndrome",1,0,[0],[1],5,1,9954,"ELMO2",0,0],[3020,"Ramsay Hunt syndrome",0,8,[2],[3],3,0,5769,"",0,0],[3021,"RAPADILINO syndrome",1,3,[0],[0,1],5,1,9955,"RECQL4",1,0],[3023,"External auditory canal atresia-vertical talus-hypertelorism syndrome",1,3,[1,2,4],[0],5,0,7587,"",0,0],[3026,"Radial ray hypoplasia-choanal atresia syndrome",1,3,[1],[0,1],5,0,8358,"",0,0],[3027,"Caudal regression syndrome",1,3,[3,2],[4,0],3,2,17607,"VANGL1 FUZ",0,0],[3032,"NPHP3-related Meckel-like syndrome",1,13,[0],[2],5,1,9966,"NPHP3",0,0],[3033,"Renal tubular dysgenesis",1,3,[0,2],[4],6,0,17609,"",0,0],[3034,"Delayed membranous cranial ossification",1,0,[],[0,1],5,0,7971,"",0,0],[3035,"Growth delay-hydrocephaly-lung hypoplasia syndrome",1,3,[],[4],5,0,9362,"",0,0],[3038,"Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome",1,3,[],[2],5,0,8445,"",0,0],[3041,"Intellectual disability-balding-patella luxation-acromicria syndrome",1,3,[5],[0,1],5,0,10505,"",0,0],[3042,"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome",1,1,[1],[1,2],5,1,9798,"ZBTB20",1,0],[3044,"Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome",1,3,[4],[2],5,0,9581,"",0,0],[3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type",1,3,[1],[4,0,1],5,1,11365,"KAT6B",1,0],[3051,"Nicolaides-Baraitser syndrome",1,3,[1],[0,1],5,1,11053,"SMARCA2",1,0],[3052,"X-linked intellectual disability-seizures-psoriasis syndrome",0,3,[5],[0,1],5,0,10652,"",0,0],[3055,"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome",1,3,[5],[0,1],5,0,17614,"",0,0],[3057,"Monoamine oxidase A deficiency",0,2,[5],[2],8,1,10379,"MAOA",1,0],[3063,"X-linked intellectual disability, Snyder type",0,3,[5],[1,2,5],5,1,10664,"SMS",1,0],[3068,"Intellectual disability-myopathy-short stature-endocrine defect syndrome",0,3,[],[0],5,0,9671,"",0,0],[3071,"Costello syndrome",1,3,[1,2],[4,0],5,1,9026,"HRAS",1,0],[3074,"Intellectual disability-short stature-hypertelorism syndrome",1,3,[],[2],5,0,17668,"",0,0],[3077,"X-linked intellectual disability-psychosis-macroorchidism syndrome",1,3,[7],[2],5,1,10235,"MECP2",0,0],[3078,"Severe X-linked intellectual disability, Gustavson type",1,3,[5],[0,1],5,1,10661,"RBMX",1,0],[3079,"Intellectual disability, Buenos-Aires type",1,3,[],[0],5,0,9584,"",0,0],[3080,"Intellectual disability, Wolff type",1,3,[],[0],5,0,10203,"",0,0],[3082,"Intellectual disability-polydactyly-uncombable hair syndrome",1,3,[],[0],5,0,17682,"",0,0],[3085,"Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome",1,3,[0],[2],5,0,9983,"",0,0],[3086,"Autosomal dominant vitreoretinochoroidopathy",0,10,[1],[3],7,1,8662,"BEST1",1,0],[3088,"Revesz syndrome",1,4,[1],[1,2],7,1,9990,"TINF2",1,0],[3090,"Congenital pulmonary venous return anomaly",3,3,[],[],8,0,17705,"",0,0],[3091,"Congenital systemic veins anomaly",4,3,[],[],8,0,17710,"",0,0],[3092,"Fixed subaortic stenosis",6,3,[11],[2],8,0,17727,"",0,0],[3093,"Congenital aortic valve stenosis",6,3,[],[0,1],8,0,17735,"",0,0],[3095,"Atypical Rett syndrome",0,1,[1,7],[0],3,5,17746,"CDKL5 SMC1A MECP2 NTNG1 GABBR2",0,0],[3096,"Reye syndrome",0,1,[],[1,2,5,6],8,0,5942,"",0,0],[3097,"Meacham syndrome",1,3,[1],[0,1],5,1,12164,"WT1",0,0],[3098,"Rhizomelic syndrome, Urbach type",1,0,[],[0],5,0,9996,"",0,0],[3099,"Rheumatic fever",0,14,[2],[2],3,0,17767,"",0,0],[3101,"Richieri Costa-da Silva syndrome",1,1,[],[2],5,0,9716,"",0,0],[3102,"Richieri Costa-Pereira syndrome",1,3,[0],[0,1],5,1,9998,"EIF4A3",1,0],[3103,"Roberts syndrome",1,3,[0],[4,0],6,1,100253,"ESCO2",1,0],[3104,"Robin sequence-oligodactyly syndrome",1,3,[],[0],5,0,8247,"",0,0],[3107,"Autosomal dominant Robinow syndrome",2,3,[1],[0,1],5,4,8389,"WNT5A DVL1 FZD2 DVL3",1,0],[3109,"Mayer-Rokitansky-Küster-Hauser syndrome",1,3,[1,2],[4,5],2,0,17771,"",1,0],[3110,"Rombo syndrome",0,5,[4],[2],8,0,8390,"",0,0],[3111,"Rotor syndrome",0,17,[0],[3],5,2,9379,"SLCO1B1 SLCO1B3",0,0],[3115,"Roussy-Lévy syndrome",0,1,[1],[1,2],6,2,8392,"PMP22 MPZ",0,0],[3121,"Ruvalcaba syndrome",1,3,[4],[0,1],8,0,8395,"",0,0],[3124,"Saccharopinuria",0,2,[0],[0,1],8,1,10005,"AASS",0,0],[3129,"Sarcosinemia",0,2,[0],[3],3,1,10008,"SARDH",1,0],[3130,"Satoyoshi syndrome",0,14,[2],[2,5,6],5,0,10922,"",0,0],[3132,"Say-Barber-Miller syndrome",1,3,[4],[4,0,1],5,0,9620,"",0,0],[3134,"SCARF syndrome",1,3,[5],[0,1],5,0,10728,"",0,0],[3137,"Alpha-N-acetylgalactosaminidase deficiency",0,2,[0],[1,2,6],5,0,17779,"",1,0],[3138,"Ulnar-mammary syndrome",1,3,[1],[4,0,1,5],6,1,8411,"TBX3",1,0],[3143,"Autoimmune polyendocrinopathy type 2",0,15,[],[6],8,0,10012,"",0,0],[3144,"Schneckenbecken dysplasia",1,0,[0],[4],5,2,10013,"SLC35D1 INPPL1",1,0],[3145,"Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome",0,13,[],[1],5,0,9099,"",0,0],[3148,"Malignant peripheral nerve sheath tumor",0,11,[2],[1,2,5,6,7],3,0,17827,"",0,0],[3151,"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome",0,4,[4],[2],5,0,17837,"",0,0],[3152,"Sclerosteosis",1,0,[0],[0,2],5,2,17838,"SOST LRP4",0,0],[3156,"Senior-Loken syndrome",0,13,[0],[1,2,5,6],4,10,17842,"CEP290 INVS IQCB1 NPHP1 NPHP3 NPHP4 SDCCAG8 WDR19 CEP164 IFT54",1,0],[3157,"Septo-optic dysplasia spectrum",1,3,[1,0,3,2],[4,0,1],2,7,8428,"PROKR2 SOX2 FGFR1 HESX1 OTX2 SOX3 ARNT2",1,0],[3161,"Congenital pulmonary sequestration",1,3,[],[0],8,0,17843,"",0,0],[3162,"Sézary syndrome",0,11,[3,2],[6],5,3,17844,"CTLA4 TNFRSF1B CD28",0,0],[3163,"SHORT syndrome",1,3,[1],[0],5,1,10026,"PIK3R1",1,0],[3164,"Omphalocele syndrome, Shprintzen-Goldberg type",1,3,[],[0],5,0,8425,"",0,0],[3165,"Eosinophilic fasciitis",0,14,[4],[6],3,0,9175,"",0,0],[3166,"Sialuria",0,2,[1],[1],5,1,10028,"GNE",1,0],[3167,"Siegler-Brewer-Carey syndrome",1,9,[0],[0,1],5,0,17849,"",0,0],[3168,"Sillence syndrome",1,3,[1],[0,1],5,0,7227,"",0,0],[3169,"Sirenomelia",1,3,[2],[4,0],4,0,17850,"",0,0],[3172,"Eyebrow duplication-syndactyly syndrome",1,3,[0],[0,1],5,0,9200,"",0,0],[3173,"Infantile spasms-broad thumbs syndrome",0,1,[],[0],5,0,17852,"",0,0],[3175,"X-linked spasticity-intellectual disability-epilepsy syndrome",0,1,[5],[0,1],5,1,17856,"ARX",0,0],[3176,"Spina bifida-hypospadias syndrome",1,3,[],[4,0,1],3,0,17857,"",0,0],[3177,"Spinocerebellar degeneration-corneal dystrophy syndrome",1,10,[0],[1,2],5,0,10063,"",0,0],[3180,"Spondylocamptodactyly syndrome",1,0,[],[0],5,0,10801,"",0,0],[3181,"Sprengel deformity",6,3,[],[4,0,1],6,0,8482,"",0,0],[3184,"Steatocystoma multiplex-natal teeth syndrome",1,3,[1],[0,1],8,0,8486,"",0,0],[3186,"Holoprosencephaly-radial heart renal anomalies syndrome",1,3,[],[4,0],5,0,8488,"",0,0],[3188,"Congenital pulmonary veins atresia or stenosis",3,3,[2],[2],8,0,17864,"",0,0],[3189,"Congenital pulmonary valvar stenosis",6,3,[3,2],[0,1,2],2,0,17865,"",0,0],[3190,"Subpulmonary stenosis",2,3,[],[],8,0,17866,"",0,0],[3191,"Subaortic stenosis-short stature syndrome",1,3,[],[0],5,0,10082,"",0,0],[3192,"Supravalvular pulmonary stenosis",2,3,[],[],8,0,17870,"",0,0],[3193,"Supravalvular aortic stenosis",6,3,[1],[3],2,1,8504,"ELN",1,0],[3194,"Corneodermatoosseous syndrome",1,3,[1],[0,1],5,0,7383,"",0,0],[3196,"Steroid dehydrogenase deficiency-dental anomalies syndrome",0,3,[0],[2],5,0,17904,"",0,0],[3197,"Hereditary hyperekplexia",0,1,[1,0],[0,1],5,5,21022,"GLRA1 GLRB GPHN SLC6A5 ATAD1",0,0],[3198,"Stiff person spectrum disorder",0,1,[2],[1,2,5,6,7],4,0,8491,"",0,0],[3199,"Stimmler syndrome",1,3,[0],[0,1],5,0,8743,"",0,0],[3200,"Arthrogryposis-ectodermal dysplasia syndrome",1,3,[0],[0,1],5,0,44406,"",0,0],[3201,"Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome",1,3,[4],[0,1],8,0,8645,"",0,0],[3202,"Dehydrated hereditary stomatocytosis",0,4,[1],[4,0],5,3,17910,"SLC4A1 PIEZO1 KCNN4",0,0],[3203,"Overhydrated hereditary stomatocytosis",0,4,[1],[0,1],5,1,8493,"RHAG",1,0],[3204,"Stormorken-Sjaastad-Langslet syndrome",0,4,[1],[3],5,2,8497,"ORAI1 STIM1",1,0],[3205,"Sturge-Weber syndrome",1,3,[2],[4,0],3,1,8501,"GNAQ",1,0],[3206,"Stüve-Wiedemann syndrome",1,0,[0],[4,0],5,1,800043,"LIFR",1,0],[3207,"White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome",1,3,[],[0],5,0,17918,"",0,0],[3208,"Isolated succinate-CoQ reductase deficiency",0,2,[0],[0,1],5,4,100294,"SDHA SDHB SDHD SDHAF1",3,0],[3214,"Deaf blind hypopigmentation syndrome, Yemenite type",1,3,[0],[0,1],5,0,11133,"",1,0],[3216,"Conductive deafness-malformed external ear syndrome",1,3,[4],[0],5,0,9083,"",0,0],[3217,"Deafness-small bowel diverticulosis-neuropathy syndrome",0,1,[],[2],5,0,9086,"",0,0],[3218,"Deafness-epiphyseal dysplasia-short stature syndrome",1,3,[],[0],5,0,11047,"",0,0],[3219,"Fountain syndrome",1,3,[0],[0,1],5,0,9241,"",0,0],[3220,"Deafness-enamel hypoplasia-nail defects syndrome",1,3,[0],[2],5,2,100229,"PEX1 PEX6",0,0],[3222,"Phosphoribosylpyrophosphate synthetase superactivity",0,2,[5],[0,1,2,5,6],5,0,10395,"",1,0],[3224,"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome",1,3,[],[0,1],5,0,17920,"",0,0],[3225,"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome",1,15,[],[0,1],5,0,17921,"",0,0],[3230,"Deafness-oligodontia syndrome",1,3,[],[0,1],5,0,9089,"",0,0],[3231,"Deafness-onychodystrophy syndrome",3,3,[1,0],[2],5,0,17922,"",0,0],[3232,"Deafness-ear malformation-facial palsy syndrome",1,3,[],[0],5,0,7421,"",0,0],[3233,"Cochleosaccular degeneration-cataract syndrome",1,3,[],[6],5,0,7346,"",0,0],[3235,"Progressive deafness with stapes fixation",1,3,[0],[2],8,0,11080,"",0,0],[3236,"Conductive deafness-ptosis-skeletal anomalies syndrome",1,3,[],[8],5,0,9084,"",0,0],[3237,"Multiple synostoses syndrome",1,3,[1],[2],5,4,17923,"GDF5 NOG FGF9 GDF6",1,0],[3238,"Cardiospondylocarpofacial syndrome",1,3,[1],[3],5,1,8005,"MAP3K7",1,0],[3239,"Deafness-vitiligo-achalasia syndrome",1,18,[0],[0,1],5,0,9085,"",0,0],[3240,"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome",0,3,[0],[8],5,1,17924,"KARS1",0,0],[3241,"Deafness-craniofacial syndrome",1,3,[],[0],5,0,7428,"",0,0],[3242,"Renpenning syndrome",1,3,[5],[0,1],5,0,10653,"",1,0],[3243,"Sweet syndrome",0,5,[3],[6],6,2,11959,"MEFV PTPN6",0,0],[3246,"Symphalangism with multiple anomalies of hands and feet",1,3,[],[0,1],5,0,8510,"",0,0],[3248,"Isolated distal symphalangism",6,3,[1],[0,1],5,0,8509,"",0,0],[3250,"Proximal symphalangism",1,3,[1],[0,1],8,2,8511,"GDF5 NOG",0,0],[3253,"Cleft lip/palate-ectodermal dysplasia syndrome",1,3,[0],[0,1],6,1,9151,"NECTIN1",1,0],[3255,"Filippi syndrome",1,3,[0],[0,1],5,1,10092,"CKAP2L",1,0],[3258,"Cenani-Lenz syndrome",1,3,[0],[0,1],5,2,8931,"APC LRP4",1,0],[3259,"Syndactyly-polydactyly-ear lobe syndrome",1,3,[],[0],5,0,8517,"",0,0],[3260,"Idiopathic hypereosinophilic syndrome",0,4,[2],[6],6,0,11895,"",0,0],[3261,"Autoimmune lymphoproliferative syndrome",0,16,[1,0],[3],6,4,17979,"CASP10 FAS FAS FASLG",2,0],[3262,"Dobrow syndrome",1,3,[],[4,0,1],5,0,17980,"",0,0],[3263,"Syngnathia-cleft palate syndrome",1,3,[],[4,0],5,0,17981,"",0,0],[3265,"Isolated humero-radial synostosis",6,3,[1,0],[4,0],5,0,7737,"",0,0],[3266,"Isolated humero-radio-ulnar synostosis",6,3,[4],[4,0],5,0,17983,"",0,0],[3268,"Radioulnar synostosis-microcephaly-scoliosis syndrome",1,3,[4],[4,0],5,0,11320,"",0,0],[3269,"Isolated radio-ulnar synostosis",6,3,[4],[1,2],6,0,17985,"",0,0],[3270,"Radioulnar synostosis-developmental delay-hypotonia syndrome",1,3,[4],[0],5,0,9952,"",0,0],[3273,"Synovial sarcoma",0,11,[2],[3],8,3,10434,"SS18 SSX1 SSX2",0,0],[3275,"Spondylocarpotarsal synostosis",1,0,[0],[1,2],5,2,10094,"FLNB MYH3",1,0],[3276,"Disorder of plasmalogens biosynthesis",4,2,[],[],8,0,17986,"",0,0],[3280,"Syringomyelia",3,1,[2],[3],3,0,17987,"",0,0],[3282,"Multifocal atrial tachycardia",0,7,[2],[0,1],4,0,17988,"",0,0],[3283,"His bundle tachycardia",0,7,[4],[0,1],8,0,17989,"",0,0],[3286,"Catecholaminergic polymorphic ventricular tachycardia",0,7,[1,0],[2,5,6],2,0,17990,"",7,0],[3287,"Takayasu arteritis",0,14,[2],[5,6],3,3,17991,"HLA-B IL12B MLX",0,0],[3291,"Teebi-Shaltout syndrome",1,3,[0],[0,1],5,0,10101,"",0,0],[3292,"Tel Hashomer camptodactyly syndrome",1,3,[4],[0,1],8,0,8901,"",0,0],[3293,"Telecanthus-hypertelorism-strabismus-pes cavus syndrome",1,3,[4],[0],5,0,17997,"",0,0],[3294,"Extensor tendons of finger anomalies",1,3,[],[0],5,0,8540,"",0,0],[3299,"Tetanus",0,8,[],[3],5,0,5526,"",0,0],[3301,"Tetraamelia-multiple malformations syndrome",1,3,[0,5],[4,0,1],5,3,10110,"TBX4 WNT3 RSPO2",0,0],[3303,"Tetralogy of Fallot",1,3,[1,3],[4,0],2,13,8542,"TBX1 ZFPM2 FLT4 GATA4 JAG1 NKX2-5 GJA5 NKX2-6 GDF1 KDR CITED2 GATA6 GATA5",4,0],[3304,"Fallot complex-intellectual disability-growth delay syndrome",1,3,[0],[0,1],5,0,10999,"",0,0],[3305,"Tetraploidy syndrome",1,3,[],[4,0],5,0,18026,"",0,0],[3306,"Inverted duplicated chromosome 15 syndrome",1,3,[2,4],[0],3,0,18027,"",0,0],[3307,"Tetrasomy 18p syndrome",1,3,[2],[4,0],8,0,13668,"",0,0],[3309,"Tetrasomy 5p syndrome",1,3,[],[4,0],5,0,18028,"",0,0],[3310,"Tetrasomy 9p syndrome",1,3,[],[4,0],5,0,18030,"",0,0],[3312,"Thalidomide embryopathy",1,3,[2],[4,0],8,0,18034,"",0,0],[3314,"Thiemann disease, familial form",0,0,[2],[5],5,0,8142,"",0,0],[3316,"Thomas syndrome",1,3,[0],[4,0],5,0,18043,"",0,0],[3317,"Thoracolaryngopelvic dysplasia",1,0,[1],[0,1],5,0,8551,"",0,0],[3318,"Essential thrombocythemia",0,4,[3,2],[3],4,6,5029,"TP53 JAK2 MPL TET2 CALR SH2B3",0,0],[3319,"Congenital amegakaryocytic thrombocytopenia",0,4,[0],[0],4,0,11469,"",1,0],[3320,"Thrombocytopenia-absent radius syndrome",1,3,[0],[4,0],4,1,10121,"RBM8A",1,0],[3322,"Hoyeraal-Hreidarsson syndrome",0,4,[1,0,5],[0,1],5,7,18045,"DKC1 TERT TINF2 RTEL1 ACD PARN TERC",0,0],[3324,"Familial thrombomodulin anomalies",0,4,[],[3],5,0,18047,"",0,0],[3325,"Classic heparin-induced thrombocytopenia",0,14,[2],[3],8,0,18048,"",0,0],[3326,"Thymic-renal-anal-lung dysplasia",1,3,[0],[4,0],5,0,10129,"",0,0],[3327,"Thyrocerebrorenal syndrome",1,13,[0],[2],5,0,10128,"",0,0],[3328,"Absent tibia-polydactyly-arachnoid cyst syndrome",1,3,[4],[0,1],5,0,10981,"",0,0],[3329,"Tibial aplasia-ectrodactyly syndrome",1,3,[1],[4,0,1],4,1,18050,"BHLHA9",1,0],[3337,"Primary Fanconi renotubular syndrome",0,13,[1,0],[1,2],6,4,7600,"GATM EHHADH NDUFAF6 SLC34A1",0,0],[3338,"Toriello-Carey syndrome",1,3,[0],[0,1],5,1,9021,"DDX3X",0,0],[3339,"Oculoectodermal syndrome",1,3,[2],[0,1],5,1,10854,"KRAS",0,0],[3341,"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome",1,3,[7],[0,1],5,0,10748,"",0,0],[3342,"Arterial tortuosity syndrome",1,23,[0],[1,2],5,1,8818,"SLC2A10",1,0],[3343,"Toxocariasis",0,8,[2],[2],8,0,5988,"",0,0],[3344,"Weismann-Netter syndrome",1,0,[],[0],6,0,7209,"",0,0],[3346,"Tracheal agenesis",6,3,[4],[4,0],5,0,18058,"",0,0],[3347,"Mounier-Kühn syndrome",9,9,[2],[3],6,0,10148,"",0,0],[3348,"Tracheobronchopathia osteochondroplastica",0,9,[4],[2,6,7],6,0,8587,"",0,0],[3350,"Tremor-nystagmus-duodenal ulcer syndrome",0,1,[],[0],5,0,8591,"",0,0],[3351,"Trichodental syndrome",1,3,[1],[2],5,0,11083,"",0,0],[3352,"Tricho-dento-osseous syndrome",1,3,[1],[2],5,1,8592,"DLX3",1,0],[3353,"Trichodermodysplasia-dental alterations syndrome",1,3,[],[0],5,0,18061,"",0,0],[3355,"Trichoodontoonychial dysplasia",1,3,[0],[0,1],5,0,10153,"",0,0],[3361,"Trichodysplasia-xeroderma syndrome",1,5,[],[0],5,0,8598,"",0,0],[3363,"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome",1,3,[0],[0,1],5,1,10152,"PNPLA6",0,0],[3365,"Trigonocephaly-broad thumbs syndrome",1,3,[1],[0,1],5,0,18064,"",0,0],[3366,"Non-syndromic metopic craniosynostosis",6,3,[1,2],[0,1],2,2,18065,"FGFR1 FREM1",0,0],[3368,"Trigonocephaly-bifid nose-acral anomalies syndrome",1,3,[4],[0,1],5,0,10154,"",0,0],[3369,"Trigonocephaly-short stature-developmental delay syndrome",1,3,[4],[8],5,0,10749,"",0,0],[3374,"Unilateral ocular duplication",6,10,[1],[0],5,0,31322,"",0,0],[3375,"Trisomy X syndrome",1,3,[2],[1,2],8,0,18066,"",0,0],[3376,"Triploidy syndrome",1,3,[2,4],[4,0],2,0,18067,"",0,0],[3377,"Trismus-pseudocamptodactyly syndrome",1,3,[1],[0,1],8,1,8016,"MYH8",1,0],[3378,"Trisomy 13 syndrome",1,3,[2,4],[4,0],3,0,18068,"",0,0],[3379,"Distal duplication 17q syndrome",1,3,[],[0],5,0,18069,"",0,0],[3380,"Trisomy 18 syndrome",1,3,[2,4],[4,0],4,0,18071,"",0,0],[3383,"Humerus trochlea hypoplasia",1,3,[],[0],5,0,8611,"",0,0],[3384,"Common arterial trunk",6,3,[2],[0,1],3,1,18072,"PLXND1",0,0],[3385,"African trypanosomiasis",0,8,[2],[3],8,0,5459,"",0,0],[3386,"American trypanosomiasis",0,8,[2],[3],1,0,1444,"",0,0],[3387,"Isolated anterior cervical hypertrichosis",0,5,[1,0],[2],5,0,10887,"",0,0],[3388,"Neural tube defect",4,3,[],[],1,0,18075,"",1,0],[3389,"Tuberculosis",0,8,[2],[3],0,0,18076,"",0,0],[3392,"Tularemia",0,8,[2],[3],3,0,18077,"",0,0],[3394,"Soft tissue sarcoma",3,11,[],[],2,0,18078,"",0,0],[3398,"Thymic epithelial neoplasm",4,11,[0,2],[6],4,0,18079,"",0,0],[3399,"Germ cell tumor",4,11,[],[],8,0,18080,"",0,0],[3400,"Aorto-ventricular tunnel",6,3,[2],[0,1],5,0,18082,"",0,0],[3402,"Transient tyrosinemia of the newborn",0,2,[],[0],8,0,18083,"",0,0],[3403,"Uhl anomaly",6,7,[2],[0,1],5,0,18084,"",0,0],[3404,"Ulbright-Hodes syndrome",1,3,[0],[0],5,0,9963,"",0,0],[3405,"Umbilical cord ulceration-intestinal atresia syndrome",1,3,[4],[4],5,0,18085,"",0,0],[3406,"Ulerythema ophryogenesis",0,5,[1,2],[2],8,0,18086,"",0,0],[3408,"Upington disease",1,0,[1],[8],5,0,8624,"",0,0],[3409,"Urban-Rogers-Meyer syndrome",1,3,[],[1],5,0,9905,"",0,0],[3411,"Double uterus-hemivagina-renal agenesis syndrome",1,3,[4],[4,0,1],5,0,8636,"",0,0],[3412,"VACTERL with hydrocephalus",1,3,[0,5],[0,1],5,1,10172,"FANCB",0,0],[3416,"Hyperostosis corticalis generalisata",1,0,[1,0],[2,5],5,2,9395,"LRP5 SOST",0,0],[3424,"Velo-facial-skeletal syndrome",1,3,[],[0],5,0,10925,"",0,0],[3426,"Double outlet right ventricle",6,3,[3],[0,1],2,0,18089,"",0,0],[3427,"Double outlet left ventricle",6,3,[2],[0,1],4,0,18090,"",0,0],[3429,"Verloove Vanhorick-Brubakk syndrome",1,3,[],[0],5,0,8991,"",0,0],[3433,"Microcephaly-brachydactyly-kyphoscoliosis syndrome",1,3,[0],[0,1],5,0,18091,"",0,0],[3434,"MMEP syndrome",1,3,[],[4,0],8,0,11045,"",0,0],[3437,"Vogt-Koyanagi-Harada disease",0,1,[3],[3],4,3,18092,"FAS HLA-DRB1 PTPN22",0,0],[3439,"Von Voss-Cherstvoy syndrome",1,3,[0],[4,0,1],5,0,9121,"",0,0],[3440,"Waardenburg syndrome",0,3,[1,0],[0,1],4,0,18094,"",4,0],[3447,"Weaver syndrome",1,3,[1,2],[4,0],5,3,10193,"NSD1 EZH2 SUZ12",1,0],[3448,"Weaver-Williams syndrome",1,3,[0],[0,1],5,0,18095,"",0,0],[3449,"Weill-Marchesani syndrome",1,3,[1,0],[0,1,2],8,4,18096,"ADAMTS10 FBN1 LTBP2 ADAMTS17",0,0],[3452,"Whipple disease",0,8,[2],[8],5,2,5116,"CD4 IRF4",0,0],[3453,"Autoimmune polyendocrinopathy type 1",0,15,[0],[2,5],3,1,9411,"AIRE",1,0],[3454,"Wieacker-Wolff syndrome",1,3,[2,5],[0],5,1,10758,"ZC4H2",1,0],[3455,"Wiedemann-Rautenstrauch syndrome",1,3,[0],[4,0],5,1,9910,"POLR3A",1,0],[3456,"Wildervanck syndrome",1,3,[],[0,1],5,0,10759,"",0,0],[3459,"Wilson-Turner syndrome",1,3,[7,5],[2],5,2,10665,"HDAC8 LAS1L",1,0],[3463,"Wolfram syndrome",0,15,[0],[2,5,6],4,2,18105,"WFS1 CISD2",2,0],[3464,"Woodhouse-Sakati syndrome",0,15,[0],[2,5],5,1,9419,"DCAF17",1,0],[3465,"Worster-Drought syndrome",0,1,[1,2],[2],3,0,8503,"",0,0],[3466,"WT limb-blood syndrome",0,3,[1],[2],5,0,8688,"",0,0],[3467,"Hereditary xanthinuria",0,13,[0],[3],3,0,18106,"",0,0],[3469,"XK aprosencephaly syndrome",1,3,[0],[4,0,1],5,0,8811,"",0,0],[3471,"Young syndrome",0,9,[4],[6],8,0,10220,"",0,0],[3472,"Yunis-Varon syndrome",1,0,[0],[4,0],5,2,8995,"FIG4 VAC14",1,0],[3473,"Zimmermann-Laband syndrome",1,3,[0],[0],5,3,200,"ATP6V1B2 KCNH1 KCNN3",0,0],[3474,"CHIME syndrome",1,3,[0],[2],5,1,10221,"PIGL",1,0],[25980,"X-linked myopathy with excessive autophagy",0,1,[5],[0,1,2,5,6],5,1,10684,"VMA21",1,0],[26106,"Hereditary diffuse gastric cancer",0,11,[1],[6],8,3,7648,"CDH1 MAP3K6 CTNNA1",1,0],[26137,"Juvenile temporal arteritis",0,23,[4],[2],5,0,16848,"",0,0],[26348,"Acquired prothrombin deficiency",0,4,[],[1,2],5,0,16990,"",0,0],[26349,"Protein S acquired deficiency",0,4,[2],[],8,0,12868,"",1,0],[26790,"Pseudomyxoma peritonei",0,11,[4],[6],4,0,17048,"",0,0],[26791,"Multiple acyl-CoA dehydrogenase deficiency",0,2,[0],[3],4,0,9282,"",3,0],[26792,"Short chain acyl-CoA dehydrogenase deficiency",0,2,[0],[0,1,2],3,1,8722,"ACADS",1,0],[26793,"Very long chain acyl-CoA dehydrogenase deficiency",0,2,[0],[0,1],3,1,8723,"ACADVL",1,0],[28378,"Tyrosinemia type 2",0,2,[0],[0,1,2,5],5,1,10160,"TAT",1,0],[29072,"Hereditary pheochromocytoma-paraganglioma",0,15,[1],[2],8,15,17366,"RET SDHA SDHB SDHC SDHD VHL FH KIF1B NF1 SDHAF2 TMEM127 MAX MDH2 DLST SLC25A11",7,0],[29073,"Multiple myeloma",0,11,[2],[6],3,1,9693,"CCND1",0,0],[29207,"Reactive arthritis",0,14,[3,2],[5,6,7],3,2,17376,"HLA-B HLA-B",0,0],[29822,"Spontaneous periodic hypothermia",0,1,[4],[3],5,0,17577,"",0,0],[30391,"Isolated biliary atresia",6,3,[3],[4,0,1],2,0,8867,"",0,0],[30924,"Primary hypomagnesemia with secondary hypocalcemia",0,13,[0],[0,1],7,1,11176,"TRPM6",2,0],[30925,"Hereditary arginine vasopressin deficiency",2,15,[1,0,7],[2],8,1,7450,"AVP",1,0],[31043,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement",2,13,[0],[2],7,1,9550,"CLDN16",1,0],[31112,"Dermatofibrosarcoma protuberans",0,11,[2],[3],2,2,11934,"COL1A1 PDGFB",0,0],[31150,"Tangier disease",0,15,[0],[0,1,2,5,6],5,1,8783,"ABCA1",1,0],[31153,"Hypoalphalipoproteinemia",3,15,[],[],8,0,17773,"",0,0],[31154,"Hypobetalipoproteinemia",3,2,[],[],8,0,17774,"",0,0],[31202,"Melioidosis",0,8,[],[3],2,0,17775,"",0,0],[31204,"Nocardiosis",0,8,[2],[3],4,0,17776,"",0,0],[31205,"Rat-bite fever",0,8,[],[3],8,0,6941,"",0,0],[31740,"Hypersensitivity pneumonitis",0,9,[2],[3],6,0,17853,"",0,0],[31824,"Colchicine poisoning",5,27,[2],[3],4,0,17859,"",0,0],[31825,"Methanol poisoning",0,27,[2],[3],8,0,17860,"",0,0],[31826,"Ethylene glycol poisoning",0,27,[2],[3],8,0,17861,"",0,0],[31827,"Paraquat poisoning",0,27,[2],[3],8,0,17862,"",0,0],[31828,"Digitalis poisoning",5,27,[2],[3],8,0,17863,"",0,0],[31837,"Pulmonary venoocclusive disease",0,9,[0,2],[3],5,2,9937,"BMPR2 EIF2AK4",0,0],[32960,"Tumor necrosis factor receptor 1 associated periodic syndrome",0,14,[1],[1,2,5,6],4,1,7727,"TNFRSF1A",1,0],[33001,"Lymphedema-distichiasis syndrome",1,3,[1],[3],8,1,7922,"FOXC2",1,0],[33067,"Metaphyseal chondrodysplasia, Jansen type",0,0,[1],[0,1],5,1,7982,"PTH1R",1,0],[33069,"Dravet syndrome",0,1,[1],[0,1],3,7,11794,"SCN1A SCN1B SCN2A SCN9A GABRA1 GABRG2 PCDH19",0,0],[33108,"Lethal multiple pterygium syndrome",1,3,[0,5],[4],5,6,9668,"RAPSN RYR1 CHRNA1 CHRND CHRNG NEB",3,0],[33110,"Autosomal non-syndromic agammaglobulinemia",2,16,[1,0],[3],7,10,11096,"IGHM IGLL1 LRRC8A TCF3 CD79A CD79B BLNK PIK3R1 PIK3CD SPI1",1,0],[33111,"Granulomatous slack skin",0,11,[2],[6],5,0,18031,"",0,0],[33208,"Idiopathic hypersomnia",0,1,[4],[3],2,0,18044,"",0,0],[33226,"Waldenström macroglobulinemia",0,11,[3],[7],3,1,100280,"MYD88",0,0],[33276,"Kaposi sarcoma",0,11,[2],[6],3,0,5055,"",0,0],[33314,"Jessner lymphocytic infiltration of the skin",0,5,[2],[6],8,0,18051,"",0,0],[33355,"Reticular dysgenesis",0,16,[0],[0,1],5,1,9973,"AK2",1,0],[33364,"Trichothiodystrophy",0,3,[0,5],[0,1],5,10,18053,"DBR1 MPLKIP ERCC2 GTF2H5 ERCC3 AARS1 CARS1 RNF113A GTF2E2 TARS1",1,0],[33402,"Pediatric hepatocellular carcinoma",0,11,[2],[2,5],4,2,18055,"CTNNB1 MET",0,0],[33408,"Bullous lichen planus",0,5,[1,2],[2],8,0,18056,"",0,0],[33445,"Neuroectodermal melanolysosomal disease",1,1,[0],[2],5,1,9742,"MYO5A",0,0],[33543,"Kleine-Levin syndrome",0,1,[],[2,5,6],4,1,7863,"TRANK1",0,0],[33572,"5-oxoprolinase deficiency",0,2,[0],[0,1,2],5,1,9825,"OPLAH",1,0],[33573,"Gamma-glutamyl transpeptidase deficiency",0,2,[0],[1],5,1,9285,"GGT1",1,0],[33574,"Glutamate-cysteine ligase deficiency",0,4,[0],[1],5,1,9259,"GCLC",1,0],[33577,"Nodular non-suppurative panniculitis",0,5,[2],[6],8,0,18063,"",0,0],[34145,"Immunoglobulin A nephropathy",0,13,[],[],8,0,5342,"",0,0],[34149,"Autosomal dominant tubulointerstitial kidney disease",0,13,[1],[1,2,5,6],5,0,8264,"",1,0],[34217,"Naxos disease",0,7,[0],[0,1],6,1,11017,"JUP",1,0],[34514,"Telethonin-related limb-girdle muscular dystrophy R7",0,1,[0],[1,2,5],5,1,11170,"TCAP",1,0],[34515,"FKRP-related limb-girdle muscular dystrophy R9",0,1,[0],[2,5,6],3,1,11787,"FKRP",1,0],[34516,"DNAJB6-related limb-girdle muscular dystrophy D1",0,1,[1],[6],5,1,21018,"DNAJB6",1,0],[34520,"Congenital muscular dystrophy with integrin alpha-7 deficiency",0,1,[0],[0,1],8,1,13177,"ITGA7",1,0],[34528,"Autosomal dominant primary hypomagnesemia with hypocalciuria",0,13,[1],[3],5,1,7937,"FXYD2",1,0],[34533,"Corneal dystrophy",4,10,[1,0,6,2,5],[3],8,0,18102,"",0,0],[34587,"Danon disease",0,2,[7],[2],5,1,10281,"LAMP2",1,0],[34592,"Immunodeficiency by defective expression of MHC class I",0,16,[0],[2],5,4,11476,"TAP2 TAP1 TAPBP B2M",3,0],[35062,"Severe disseminated cytomegalovirus infection in immunocompetent patients",0,8,[2],[3],8,0,18108,"",0,0],[35063,"Fulminant viral hepatitis",0,17,[],[],8,0,18109,"",0,0],[35069,"PLA2G6-related neurodegeneration, infantile-onset",0,1,[0],[0,1],5,1,24457,"PLA2G6",1,0],[35078,"T-B+NK- severe combined immunodeficiency due to JAK3 deficiency",0,16,[0],[0,1],8,1,10938,"JAK3",1,0],[35093,"Non-syndromic sagittal craniosynostosis",6,3,[1,2],[0,1],2,2,18112,"ALX4 TWIST1",0,0],[35099,"Non-syndromic bicoronal craniosynostosis",6,3,[1,2],[0,1],5,4,18114,"TWIST1 ZIC1 FGFR3 TCF12",0,0],[35107,"Desmosterolosis",0,0,[0],[4,0,1],5,1,11217,"DHCR24",1,0],[35120,"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency",0,4,[0],[0,1],5,1,9946,"NT5C3A",1,0],[35121,"Lysosomal acid phosphatase deficiency",0,2,[0],[0,1],8,0,8705,"",0,0],[35122,"Congenital sucrase-isomaltase deficiency",0,12,[0],[1,2,5,6],8,1,9114,"SI",1,0],[35125,"Epidermal nevus syndrome",0,3,[2],[0,1],6,0,18115,"",0,0],[35173,"X-linked dominant chondrodysplasia punctata",0,0,[7],[4,0,1],4,1,20603,"EBP",1,0],[35612,"Isolated complete colobomatous microphthalmia",2,3,[1,0,2],[0,1],8,10,5514,"SIX6 BEST1 SOX2 CRB1 MFRP OTX2 RAX PRSS56 ALDH1A3 TMEM98",0,0],[35656,"Coenzyme Q10 deficiency",3,2,[0],[3],8,0,18151,"",1,0],[35664,"ALDH18A1-related De Barsy syndrome",7,2,[0,2],[0,1],5,1,9053,"ALDH18A1",1,0],[35686,"Serpiginous choroiditis",0,10,[],[],8,0,18152,"",0,0],[35687,"Erdheim-Chester disease",0,14,[2],[6],5,0,18153,"",0,0],[35689,"Primary lateral sclerosis",0,1,[1,0,2],[6,7],3,1,18155,"SPG7",0,0],[35696,"Mitochondrial disorder due to a defect in mitochondrial protein synthesis",4,2,[],[],8,0,18157,"",0,0],[35698,"Mitochondrial DNA depletion syndrome",4,2,[],[3],4,0,18158,"",2,0],[35701,"3-hydroxy-3-methylglutaryl-CoA synthase deficiency",0,2,[0],[2],5,1,11614,"HMGCS2",1,0],[35704,"L-Arginine:glycine amidinotransferase deficiency",0,2,[0],[1],5,1,12996,"GATM",1,0],[35705,"Neurometabolic disorder due to serine deficiency",4,2,[],[0,1],5,0,18162,"",3,0],[35706,"Glutaric acidemia type 3",0,2,[0],[3],8,1,9283,"SUGCT",1,0],[35708,"Aromatic L-amino acid decarboxylase deficiency",0,2,[0],[0,1],5,1,12084,"DDC",1,0],[35710,"Glucose-galactose malabsorption",0,12,[0],[0,1],4,1,11731,"SLC5A1",1,0],[35737,"Morning glory disc anomaly",6,3,[],[2],8,1,18169,"PAX6",0,0],[35807,"Malignant germ cell tumor of ovary",4,11,[4],[1,2,5,6,7],5,0,18171,"",0,0],[35808,"Malignant sex cord stromal tumor of ovary",4,11,[2],[3],3,0,18172,"",0,0],[35858,"Imerslund-Gräsbeck syndrome",0,4,[0],[2],4,2,9853,"CUBN AMN",0,0],[35878,"Hyperinsulinism-hyperammonemia syndrome",0,2,[1],[0,1],8,1,11717,"GLUD1",1,0],[35889,"Acute opioid intoxication",0,27,[2],[3],8,0,18173,"",0,0],[35909,"Combined deficiency of factor V and factor VIII",0,4,[0],[3],4,2,18175,"LMAN1 MCFD2",0,0],[35981,"Polymicrogyria",3,3,[1,0,2,7],[2],8,0,87,"",0,0],[36204,"Intestinal lymphangiectasia",3,12,[2],[3],8,0,18178,"",0,0],[36234,"Bacterial toxic-shock syndrome",0,8,[2],[3],8,0,1881,"",0,0],[36235,"Staphylococcal scarlet fever",0,8,[],[3],8,0,18180,"",0,0],[36236,"Staphylococcal scalded skin syndrome",0,8,[],[3],8,0,18181,"",0,0],[36237,"Bullous impetigo",0,8,[2],[3],8,0,18182,"",0,0],[36238,"Staphylococcal necrotizing pneumonia",0,8,[2],[2],8,0,18183,"",0,0],[36258,"Buerger disease",0,14,[2],[6],2,0,8889,"",0,0],[36273,"Gastric linitis plastica",0,11,[],[6],8,0,18184,"",0,0],[36355,"Bleeding disorder due to P2Y12 defect",0,4,[0],[2],5,1,12354,"P2RY12",1,0],[36367,"Distal deletion 1q syndrome",1,3,[],[0],8,1,18205,"ZBTB18",0,0],[36383,"COL4A1/2-related familial vascular leukoencephalopathy",0,1,[1],[],8,2,8289,"COL4A1 COL4A2",1,0],[36386,"Hereditary sensory and autonomic neuropathy type 1",0,1,[1],[3],8,4,18213,"ATL1 SPTLC1 SPTLC2 ATL3",0,0],[36387,"Genetic epilepsy with febrile seizure plus",0,1,[1],[2],8,13,18214,"SCN1A SCN1B SCN2A SCN9A CPA6 GABRD GABRG2 ADGRV1 PRRT2 HCN1 STX1B FGF13 SLC32A1",4,0],[36388,"Paraneoplastic neurologic syndrome",4,1,[2],[3],8,0,18215,"",0,0],[36397,"Adiposis dolorosa",0,5,[1,2],[6],8,0,7070,"",0,0],[36412,"Hypocomplementemic urticarial vasculitis",0,14,[0,2],[2,6],6,1,18227,"DNASE1L3",0,0],[36426,"Stevens-Johnson syndrome",2,5,[2],[3],8,2,18229,"HLA-B IKZF1",0,0],[36899,"Myoclonus-dystonia syndrome",0,1,[1,2],[2,5,6],4,5,903,"SGCE TOR1A DRD2 DYT15 KCTD17",0,0],[36913,"Autoimmune hypoparathyroidism",0,15,[2],[2,5,6],8,0,18242,"",0,0],[37042,"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome",0,16,[5],[0,1],5,1,10580,"FOXP3",1,0],[37202,"Interstitial cystitis",0,26,[4],[3],2,0,18301,"",0,0],[37553,"Andersen-Tawil syndrome",0,1,[1],[2,5],4,2,8222,"KCNJ2 KCNJ5",1,0],[37559,"Acquired kinky hair syndrome",0,5,[],[],8,0,18302,"",0,0],[37612,"Episodic ataxia type 1",0,1,[1],[2,5],8,1,8047,"KCNA1",1,0],[37748,"Schnitzler syndrome",1,14,[2],[6],5,0,18304,"",0,0],[38874,"Dihydropyrimidinuria",0,2,[0],[1,2],5,1,9111,"DPYS",1,0],[39041,"Omenn syndrome",0,16,[0],[0,1],5,10,11338,"NUDCD3 ADA RAG1 RAG2 CHD7 DCLRE1C IL2RG RMRP IL7R PSMB10",3,0],[39812,"Graft versus host disease",0,16,[2],[3],3,0,13730,"",0,0],[40366,"Acitretin/etretinate embryopathy",1,3,[2],[4,0],5,0,18442,"",0,0],[40923,"Eales disease",0,10,[3,2],[5,6],8,0,18460,"",0,0],[41751,"Bietti crystalline dystrophy",0,10,[0],[5,6],8,1,8865,"CYP4V2",1,0],[42062,"Iminoglycinuria",0,2,[0],[3],8,4,9448,"SLC6A19 SLC36A2 SLC6A20 SLC6A18",0,0],[42642,"PFAPA syndrome",0,16,[4],[1,2],6,0,18540,"",0,0],[42665,"Tietz syndrome",1,3,[1],[0],5,1,7077,"MITF",1,0],[42738,"Severe congenital neutropenia",3,16,[1,0,5],[2],4,0,18542,"",1,0],[42775,"PHACE syndrome",1,3,[4],[4,0,1],5,0,11676,"",0,0],[43115,"Hereditary myopathy with lactic acidosis due to ISCU deficiency",0,2,[0],[2],5,1,9706,"ISCU",1,0],[43116,"Serotonin syndrome",0,1,[2],[3],6,0,18546,"",0,0],[43117,"Acute tricyclic antidepressant poisoning",5,27,[2],[3],8,0,18547,"",0,0],[43119,"Acute poisoning by drugs with membrane-stabilizing effect",5,27,[2],[3],8,0,18548,"",0,0],[43393,"Lambert-Eaton myasthenic syndrome",0,1,[2],[6],4,0,18556,"",0,0],[44890,"Gastrointestinal stromal tumor",0,11,[1,2],[2,5,6],2,7,11719,"SDHA SDHB SDHC KIT KIT PDGFRA PDGFRA",4,0],[45358,"Congenital fibrosis of extraocular muscles",0,10,[1,0,2],[0],4,6,7614,"PHOX2A KIF21A TUBA1A TUBB2B TUBB3 COL25A1",2,0],[45448,"Miyoshi myopathy",0,1,[0],[6],4,1,9685,"DYSF",0,0],[45452,"Idiopathic neonatal atrial flutter",0,7,[2],[0,1],3,0,18684,"",0,0],[45453,"Incessant infant ventricular tachycardia",0,7,[2],[1,2],3,0,18685,"",0,0],[46059,"Lathosterolosis",0,2,[0],[0],5,1,11816,"SC5D",1,0],[46135,"Primary central nervous system lymphoma",0,11,[2],[6,7],4,0,2571,"",0,0],[46348,"Paroxysmal extreme pain disorder",0,1,[1],[0,1],5,3,8179,"SCN9A SCN10A SCN11A",1,0],[46484,"Oligodendroglial tumor",3,11,[3,2],[6],4,0,18744,"",0,0],[46485,"Superficial pemphigus",3,5,[2],[3],3,0,18745,"",0,0],[46486,"Mucous membrane pemphigoid",0,5,[2],[1,2,5,6,7],3,0,18746,"",0,0],[46487,"Epidermolysis bullosa acquisita",0,5,[2],[1,2,5,6,7],4,0,18747,"",0,0],[46488,"Linear IgA dermatosis",0,5,[2],[3],4,0,18748,"",0,0],[46532,"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome",0,4,[1],[2],8,4,18749,"HBB HBG1 HBG2 KLF1",2,0],[46627,"Char syndrome",1,3,[1],[4,0,1],5,1,8209,"TFAP2B",1,0],[46724,"Brain arteriovenous malformation, nidus type",6,3,[11],[3],8,0,7154,"",0,0],[47044,"Hereditary papillary renal cell carcinoma",0,11,[1],[6],8,1,3789,"MET",1,0],[47045,"Familial cold urticaria",0,14,[1],[1,2,5],6,1,18768,"NLRP3",1,0],[47159,"Proximal renal tubular acidosis",0,13,[1,0,2],[3],6,0,8369,"",0,0],[47612,"Felty syndrome",0,14,[4],[6],8,0,7603,"",0,0],[48104,"Pyoderma gangrenosum",0,14,[4],[2,5,6,7],4,0,18824,"",0,0],[48162,"Lewis-Sumner syndrome",2,1,[2],[3],8,0,18826,"",0,0],[48372,"Nodular regenerative hyperplasia of the liver",10,17,[2],[6],3,0,18835,"",0,0],[48377,"Subcorneal pustular dermatosis",0,5,[2],[6],5,0,6614,"",0,0],[48431,"Congenital cataracts-facial dysmorphism-neuropathy syndrome",1,3,[0],[0,1],5,1,11402,"CTDP1",1,0],[48435,"Postinfectious vasculitis",0,14,[2],[3],8,0,18837,"",0,0],[48471,"Lissencephaly",4,3,[],[0,1],8,0,18838,"",3,0],[48652,"Phelan-McDermid syndrome",1,3,[2,4],[0,1],6,0,11652,"",1,0],[48686,"Primary effusion lymphoma",0,11,[],[6],5,0,18842,"",0,0],[48736,"Embryonal carcinoma of the central nervous system",2,11,[],[],8,0,18843,"",0,0],[48818,"Aceruloplasminemia",0,1,[0],[5,6],5,1,11426,"CP",1,0],[48918,"Focal myositis",0,1,[2],[6],5,0,18845,"",0,0],[49041,"IgG4-related retroperitoneal fibrosis",2,24,[2,4],[6],4,0,18848,"",0,0],[49042,"Dentinogenesis imperfecta",0,6,[1],[2],2,0,18849,"",1,0],[49382,"Achromatopsia",0,10,[0],[0,1],3,7,18852,"RPGR CNGA3 CNGB3 GNAT2 PDE6H PDE6C ATF6",1,0],[49566,"Acquired purpura fulminans",0,4,[2],[0,1,2,6],6,0,18854,"",0,0],[49804,"Lichen amyloidosis",0,5,[],[5,6],8,0,18856,"",0,0],[49827,"Thiamine-responsive megaloblastic anemia syndrome",0,4,[0],[2],5,1,9575,"SLC19A2",1,0],[50251,"Pleural mesothelioma",0,11,[3],[3],4,1,6292,"BAP1",0,0],[50809,"Talo-patello-scaphoid osteolysis",1,0,[0],[2],5,0,12330,"",0,0],[50810,"Microlissencephaly-micromelia syndrome",1,3,[0],[0,1],5,0,18860,"",0,0],[50811,"Lipodystrophy-intellectual disability-deafness syndrome",0,0,[0],[2],5,0,11976,"",0,0],[50812,"Zellweger-like syndrome without peroxisomal anomalies",0,1,[0,6],[2],5,0,18861,"",0,0],[50814,"Craniolenticulosutural dysplasia",1,3,[0],[0,1],5,1,11911,"SEC23A",1,0],[50815,"Branchiogenic deafness syndrome",1,3,[1],[4,0],5,0,12209,"",0,0],[50839,"Cat-scratch disease",0,8,[2],[3],3,0,5692,"",0,0],[50918,"Kikuchi-Fujimoto disease",0,14,[],[1,2,5,6],4,0,18864,"",0,0],[50942,"Striate palmoplantar keratoderma",0,5,[1],[0,1],5,3,18865,"DSG1 DSP KRT1",0,0],[50943,"Keratolytic winter erythema",0,5,[1],[0,1,2,5,6],8,1,7854,"CTSB",1,0],[50944,"Schöpf-Schulz-Passarge syndrome",0,3,[1,0],[2,5],5,1,9145,"WNT10A",0,0],[50945,"Blomstrand lethal chondrodysplasia",1,0,[0],[4,0],5,1,8970,"PTH1R",1,0],[51083,"Congenital short QT syndrome",0,7,[1],[3],6,5,453,"KCNH2 KCNJ2 KCNQ1 SLC4A3 CACNA2D1",4,0],[51084,"Torsade-de-pointes syndrome with short coupling interval",0,7,[],[6],5,0,13317,"",0,0],[51188,"Ethylmalonic encephalopathy",0,1,[0],[0,1],5,1,11229,"ETHE1",1,0],[51208,"Formiminoglutamic aciduria",0,2,[0],[2],8,1,9240,"FTCD",1,0],[51577,"Cobblestone lissencephaly",3,3,[0],[0,1],3,0,18869,"",0,0],[51608,"Generalized arterial calcification of infancy",0,23,[1,0],[4,0,1],4,2,18870,"ABCC6 ENPP1",0,0],[51636,"WHIM syndrome",0,16,[1,0,2],[2,5,6],5,1,8000006,"CXCR4",1,0],[51890,"Anterior cutaneous nerve entrapment syndrome",0,1,[2],[3],1,0,18873,"",0,0],[52022,"Potocki-Shaffer syndrome",1,3,[4],[0,1],5,3,11022,"ALX4 EXT2 PHF21A",1,0],[52047,"Braddock syndrome",1,3,[0],[0],5,0,12032,"",0,0],[52054,"Craniosynostosis-intracranial calcifications syndrome",1,3,[0],[0,1],5,0,12035,"",0,0],[52055,"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",1,3,[5],[0,1],5,1,10333,"IGBP1",0,0],[52056,"Ulnar/fibula ray defect-brachydactyly syndrome",1,3,[1],[0,1],5,0,12063,"",0,0],[52368,"Mohr-Tranebjaerg syndrome",0,3,[5],[2],5,1,10578,"TIMM8A",1,0],[52416,"Mantle cell lymphoma",0,11,[3,2],[6],3,3,18876,"CCND1 ATM IGH",0,0],[52417,"MALT lymphoma",0,11,[3,2],[6],3,5,7650,"MALT1 BIRC3 IGH FOXP1 BCL10",0,0],[52427,"Retinitis punctata albescens",0,10,[1,0],[2],4,4,18877,"PRPH2 RDH5 RHO RLBP1",0,0],[52429,"Branchiootic syndrome",1,3,[1],[0],3,2,18878,"SIX1 EYA1",0,0],[52430,"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia",0,1,[1],[6],5,3,507,"VCP HNRNPA2B1 HNRNPA1",1,0],[52503,"X-linked creatine transporter deficiency",0,2,[2,5],[1,2],6,1,10305,"SLC6A8",1,0],[52530,"Pseudo-von Willebrand disease",0,4,[1],[6],5,1,8332,"GP1BA",1,0],[52662,"Rare teratologic disease",4,3,[],[],8,0,18880,"",0,0],[52688,"Myelodysplastic syndrome",3,11,[],[3],3,1,18881,"TP53",2,0],[52759,"Vasculitis",4,14,[],[],8,0,18882,"",0,0],[52901,"Isolated follicle stimulating hormone deficiency",0,15,[0],[5,6],8,1,9239,"FSHB",1,0],[52994,"Orbital leiomyoma",0,11,[4],[6],5,0,18885,"",0,0],[53035,"Caroli disease",1,17,[0,2],[3],4,1,10913,"PKHD1",1,0],[53271,"Muenke syndrome",1,3,[1],[4,0],3,1,11274,"FGFR3",1,0],[53296,"Familial cutaneous collagenoma",0,5,[1],[5],5,0,7271,"",0,0],[53347,"Brody myopathy",0,1,[1,0],[2,5,6],5,1,10977,"ATP2A1",1,0],[53351,"X-linked dystonia-parkinsonism",0,1,[2,5],[6],5,1,10747,"TAF1",1,0],[53372,"Hereditary geniospasm",0,1,[1],[2],8,0,8588,"",0,0],[53540,"Goldmann-Favre syndrome",0,3,[0],[2,5],5,1,100289,"NR2E3",1,0],[53583,"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity",0,1,[1],[2],5,1,10983,"SLC2A1",1,0],[53689,"Congenital chloride diarrhea",0,12,[0],[0,1],8,1,8964,"SLC26A3",1,0],[53690,"Congenital lactase deficiency",0,12,[0],[0,1,2,6],3,1,9115,"LCT",1,0],[53691,"Congenital cornea plana",6,10,[1,0],[0,1],5,1,18888,"KERA",1,0],[53693,"GRACILE syndrome",0,2,[0],[4,0],3,1,11308,"BCS1L",1,0],[53696,"Arthrogryposis-anterior horn cell disease syndrome",1,3,[0],[4],5,1,12750,"GLE1",1,0],[53697,"Gnathodiaphyseal dysplasia",1,0,[1],[1,2,5],5,1,8151,"ANO5",1,0],[53698,"Myosin storage myopathy",0,1,[1,0],[2,6],6,0,18889,"",0,0],[53715,"Familial tumoral calcinosis",0,5,[0],[2],8,0,18891,"",0,0],[53721,"Spinal arteriovenous metameric syndrome",1,3,[2],[3],5,0,18893,"",0,0],[53739,"Distal hereditary motor neuropathy",3,1,[],[],8,0,18894,"",6,0],[54028,"Plummer-Vinson syndrome",0,4,[4],[6],5,0,18895,"",0,0],[54057,"Thrombotic thrombocytopenic purpura",0,4,[0,3],[3],4,0,18896,"",0,0],[54247,"Posterior cortical atrophy",0,1,[4],[6],6,0,18899,"",0,0],[54251,"Aseptic abscess syndrome",0,14,[2],[5,6],5,0,18900,"",0,0],[54260,"Left ventricular noncompaction",0,7,[1,0,6,5],[3],6,15,18901,"ACTC1 PKP2 TNNT2 TPM1 DTNA LDB3 LMNA MYBPC3 MYH7 TBX20 MIB1 PRDM16 MYH7B MIB2 PLEKHM2",0,0],[54272,"Hepatocellular adenoma",0,11,[],[6,7],6,0,18902,"",0,0],[54368,"Sarcocystosis",0,8,[],[3],8,0,18903,"",0,0],[54370,"Primary membranoproliferative glomerulonephritis",0,13,[2],[6],2,0,18904,"",0,0],[54595,"Craniopharyngioma",0,15,[2],[3],3,2,18907,"BRAF CTNNB1",0,0],[55595,"TNP03-related limb-girdle muscular dystrophy D2",0,1,[1],[1,2,5,6],5,1,12034,"TNPO3",1,0],[55596,"HNRNPDL-related limb-girdle muscular dystrophy D3",0,1,[1],[5,6],5,1,12193,"HNRNPDL",1,0],[55654,"Hypotrichosis simplex",0,5,[1,0],[2],5,7,18914,"LPAR6 LIPH DSG4 APCDD1 RPL21 SNRPE LSS",0,0],[55655,"Pneumococcal meningitis",0,8,[],[],8,0,6913,"",0,0],[55880,"Chondrosarcoma",0,11,[2,4],[6],3,1,8977,"EXT1",1,0],[55881,"Adamantinoma",0,11,[2],[2,5,6],4,0,2422,"",0,0],[56044,"Carcinoma of gallbladder and extrahepatic biliary tract",3,11,[2],[6],2,0,18918,"",0,0],[56304,"Atelosteogenesis type II",1,0,[0],[0,1],5,1,9727,"SLC26A2",1,0],[56305,"Atelosteogenesis type III",1,0,[1,2],[4,0,1],5,1,7168,"FLNB",1,0],[56425,"Cold agglutinin disease",0,4,[3],[6],4,0,18922,"",0,0],[56970,"Human prion disease",4,1,[],[6],8,0,18926,"",0,0],[57145,"SUNCT syndrome",0,1,[2],[6],3,0,18927,"",0,0],[57146,"Rare hepatic disease",4,-1,[],[],8,0,18928,"",0,0],[57196,"Medial condensing osteitis of the clavicle",0,0,[2],[2,5,6],5,0,18929,"",0,0],[57782,"Mazabraud syndrome",1,0,[2],[6],5,1,18933,"GNAS",0,0],[58017,"Classic hairy cell leukemia",0,11,[4],[6],4,1,18935,"BRAF",0,0],[58040,"Osteoblastoma",0,11,[],[],8,0,18936,"",0,0],[59135,"Laing distal myopathy",0,1,[1],[2],8,1,8050,"MYH7",1,0],[59181,"Sorsby fundus dystrophy",0,10,[1],[6],8,1,7640,"TIMP3",1,0],[59298,"Schilder disease",0,1,[],[2],8,0,10085,"",0,0],[59303,"Neonatal ichthyosis-sclerosing cholangitis syndrome",0,17,[0],[0],5,1,11874,"CLDN1",1,0],[59305,"Gestational trophoblastic neoplasm",3,11,[2],[6],6,0,18944,"",0,0],[59306,"McLeod neuroacanthocytosis syndrome",0,1,[5],[6],5,1,18945,"XK",1,0],[59315,"Isolated rhombencephalosynapsis",1,3,[2],[4,0,1],5,0,18946,"",0,0],[60014,"Argyria",0,27,[2],[3],8,0,18952,"",0,0],[60015,"Enlarged parietal foramina",1,0,[1],[4,0],3,2,18953,"ALX4 MSX2",1,0],[60025,"Pulmonary alveolar microlithiasis",0,9,[0,2],[3],8,1,9928,"SLC34A2",1,0],[60026,"Pulmonary nodular lymphoid hyperplasia",0,9,[],[2,5,6],6,0,8348,"",0,0],[60030,"Loeys-Dietz syndrome",1,14,[1,0],[4,0,1],6,7,18954,"TGFB2 TGFB3 TGFBR1 TGFBR2 SMAD3 SMAD2 IPO8",2,0],[60032,"Recurrent respiratory papillomatosis",0,9,[2],[1,2,5,6],3,0,18955,"",0,0],[60033,"Idiopathic bronchiectasis",0,9,[2],[3],2,4,18956,"SCNN1A SCNN1B SCNN1G CFTR",0,0],[60039,"Pudendal nerve entrapment syndrome",0,1,[2],[6],2,0,18957,"",0,0],[60040,"Megalencephaly-capillary malformation-polymicrogyria syndrome",1,3,[2],[4,0],5,1,11240,"PIK3CA",1,0],[60041,"Congenital heart block",0,7,[2],[0,1],3,0,9326,"",0,0],[63259,"Iniencephaly",6,3,[3,2],[0,1],2,0,18968,"",0,0],[63260,"Craniorachischisis",6,3,[3,2],[0,1],8,1,18969,"DACT1",0,0],[63269,"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis",2,3,[0],[],8,1,8726,"POR",1,0],[63273,"FLNC-related handgrip and calf weakness-distal myopathy",0,1,[1],[5,6],5,1,13550,"FLNC",1,0],[63275,"Pemphigoid gestationis",0,5,[],[5,6],4,0,6558,"",0,0],[63442,"Angel-shaped phalango-epiphyseal dysplasia",1,0,[1],[3],5,1,7114,"GDF5",0,0],[63443,"Rare epithelial tumor of stomach",4,11,[3,2],[6],3,0,18972,"",0,0],[63446,"Acrocapitofemoral dysplasia",1,0,[0],[0,1],8,1,11907,"IHH",1,0],[63454,"Pattern dystrophy",4,10,[1,0],[6],8,0,18973,"",0,0],[63455,"Paraneoplastic pemphigus",0,5,[2],[3],6,0,18974,"",0,0],[63862,"Schisis association",1,3,[2,4],[4,0],8,0,18976,"",0,0],[63999,"IgG4-related mediastinitis",2,9,[2],[],8,0,18978,"",0,0],[64280,"Childhood absence epilepsy",0,1,[1],[2,5],3,5,10826,"GABRA1 GABRG2 GABRB3 JRK CACNA1H",0,0],[64542,"Acrofacial dysostosis, Kennedy-Teebi type",1,3,[0],[0,1],5,0,18980,"",0,0],[64686,"Tolosa-Hunt syndrome",0,10,[],[3],4,0,18983,"",0,0],[64692,"Bartonella bacilliformis infection",0,8,[],[3],6,0,18984,"",0,0],[64694,"Trench fever",0,8,[],[3],6,0,5991,"",0,0],[64720,"Leiomyosarcoma",0,11,[2],[2,5,6,7],6,0,5058,"",2,0],[64722,"Granulomatous mastitis",0,19,[],[5,6,7],3,0,18987,"",0,0],[64734,"Iridocorneal endothelial syndrome",0,10,[2],[6],8,0,18988,"",0,0],[64739,"Ovarian hyperstimulation syndrome",0,19,[2],[5,6],6,1,11972,"FSHR",1,0],[64741,"Pulmonary blastoma",0,11,[3],[6],5,0,5933,"",0,0],[64742,"Pleuropulmonary blastoma",0,11,[1,2],[0,1],4,0,11014,"",1,0],[64743,"Hepatoportal sclerosis",10,17,[],[3],8,0,18991,"",0,0],[64744,"IgG4-related thyroid disease",2,15,[2],[6],3,0,18992,"",0,0],[64745,"Pruritic urticarial papules and plaques of pregnancy",0,5,[],[5,6],6,0,8353,"",0,0],[64746,"Autosomal dominant Charcot-Marie-Tooth disease type 2",3,1,[1],[3],8,0,18993,"",3,0],[64747,"X-linked Charcot-Marie-Tooth disease",3,1,[7,5],[],8,0,18994,"",0,0],[64748,"Dejerine-Sottas syndrome",0,1,[1,0,2],[1],5,4,7790,"PMP22 PRX EGR2 MPZ",3,0],[64749,"Charcot-Marie-Tooth disease type 4",3,1,[0],[1,2],2,0,18995,"",1,0],[64751,"Hereditary motor and sensory neuropathy type 5",0,1,[1],[6],5,1,10877,"MFN2",0,0],[64752,"Hereditary sensory and autonomic neuropathy type 5",0,1,[0],[0,1],8,2,12092,"NGF NTRK1",1,0],[64753,"Spinocerebellar ataxia with axonal neuropathy type 2",0,1,[0],[2,5,6],4,2,18996,"SETX PIK3R5",1,0],[64754,"Nevus comedonicus syndrome",0,5,[2],[0,1,2],6,1,14873,"NEK9",0,0],[64755,"Becker nevus syndrome",0,5,[2],[3],6,1,11500,"ACTB",0,0],[65282,"Carvajal syndrome",0,7,[1,0],[0,1,2],5,1,11581,"DSP",1,0],[65283,"Timothy syndrome",1,7,[1],[4,0],5,0,10979,"",1,0],[65284,"Biotin-thiamine-responsive basal ganglia disease",0,1,[0],[1,2,6],5,1,11841,"SLC19A3",1,0],[65285,"Lhermitte-Duclos disease",2,3,[1,2],[6],5,1,19002,"PTEN",1,0],[65286,"3q29 microdeletion syndrome",1,3,[1],[0,1],8,0,12269,"",0,0],[65287,"Beta-ureidopropionase deficiency",0,2,[0],[0,1],5,1,13164,"UPB1",1,0],[65288,"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome",1,1,[0],[0,1],5,1,12192,"PTF1A",2,0],[65681,"Vaginal atresia",6,3,[2],[2],8,0,19007,"",0,0],[65682,"Benign recurrent intrahepatic cholestasis",0,17,[1,0],[3],8,0,19008,"",0,0],[65683,"Isolated focal cortical dysplasia",0,1,[],[3],6,0,19009,"",0,0],[65684,"Monomelic amyotrophy",0,1,[4],[5,6],8,2,11224,"CPLANE1 CEP126",0,0],[65720,"Arthrogryposis-severe scoliosis syndrome",1,3,[1],[0],5,0,12195,"",0,0],[65743,"Autosomal dominant multiple pterygium syndrome",1,3,[1],[2],5,1,8338,"MYH3",0,0],[65748,"Multiple self-healing squamous epithelioma",0,5,[1],[2,5,6,7],6,1,7566,"TGFBR1",1,0],[65753,"Charcot-Marie-Tooth disease type 1",3,1,[1],[1,2,5,6],2,0,19011,"",0,0],[65759,"Carpenter syndrome",1,3,[0],[4,0,2],5,2,19012,"RAB23 MEGF8",0,0],[66518,"Short fifth metacarpals-insulin resistance syndrome",0,15,[1],[5],5,0,19017,"",0,0],[66529,"Tako-Tsubo cardiomyopathy",0,7,[4],[3],3,0,19018,"",0,0],[66624,"PANDAS",0,1,[2],[2],8,0,19020,"",0,0],[66625,"Cerebrooculonasal syndrome",1,3,[1],[4,0],5,0,11575,"",0,0],[66627,"Tenosynovial giant cell tumor",0,11,[2],[2,5,6],2,0,24686,"",0,0],[66628,"Obesity due to congenital leptin deficiency",7,15,[0],[2],5,1,13991,"LEP",1,0],[66629,"Goldberg-Shprintzen megacolon syndrome",1,3,[0],[0,1],5,1,12280,"KIFBP",1,0],[66630,"Congenital pseudoarthrosis of the clavicle",0,3,[2],[0,1,2],3,0,7330,"",0,0],[66631,"CEDNIK syndrome",0,3,[0],[0,1],5,1,12290,"SNAP29",1,0],[66633,"Sensorineural hearing loss-early graying-essential tremor syndrome",0,18,[1],[6],5,0,19022,"",0,0],[66634,"Dilated cardiomyopathy with ataxia",0,2,[0],[1,2],8,1,12435,"DNAJC19",1,0],[66637,"Diaphanospondylodysostosis",1,3,[0],[4,0,1],5,1,11946,"BMPER",1,0],[66646,"Cutaneous mastocytosis",3,5,[2],[2],6,0,19023,"",1,0],[66661,"Mast cell sarcoma",0,11,[],[3],5,0,19024,"",0,0],[66662,"Extracutaneous mastocytoma",0,11,[],[3],5,0,19025,"",0,0],[67036,"Autosomal dominant optic atrophy and cataract",0,10,[1],[2],5,1,8133,"OPA3",1,0],[67037,"Squamous cell carcinoma of head and neck",4,11,[],[],8,0,10150,"",0,0],[67038,"B-cell chronic lymphocytic leukemia",0,11,[3,2],[6],2,10,4948,"CCND1 TP53 ARL11 ATM IGHG1 IGHV3-21 POT1 RPS15 IKZF3 P2RX7",0,0],[67039,"Segmental odontomaxillary dysplasia",0,6,[2],[2],5,0,19029,"",0,0],[67041,"Hyaluronidase deficiency",0,2,[0],[2],8,1,11093,"HYAL1",1,0],[67042,"Late-onset retinal degeneration",0,10,[1],[6,7],8,1,11579,"C1QTNF5",1,0],[67043,"Amoebic keratitis",0,8,[2],[3],3,0,5629,"",0,0],[67044,"Thrombocytopenia with congenital dyserythropoietic anemia",0,4,[5],[0,1],5,1,19031,"GATA1",0,0],[67045,"X-linked intellectual disability with isolated growth hormone deficiency",2,15,[5],[0,1],5,1,19032,"SOX3",0,0],[67046,"3-methylglutaconic aciduria type 1",0,2,[0],[0,1],5,1,9610,"AUH",1,0],[67047,"3-methylglutaconic aciduria type 3",0,2,[0],[2],8,2,9787,"OPA3 MICOS13",1,0],[67048,"3-methylglutaconic aciduria type 4",0,2,[0],[0,1],8,0,9611,"",0,0],[68329,"Rare maxillo-facial surgical disease",4,-1,[],[],8,0,19038,"",0,0],[68334,"Rare hemorrhagic disorder due to a constitutional coagulation factors defect",4,4,[],[],8,0,19039,"",0,0],[68335,"Rare chromosomal anomaly",4,3,[],[],8,0,19040,"",0,0],[68336,"Rare genetic tumor",4,11,[],[],8,0,19041,"",0,0],[68341,"Multiple congenital anomalies/dysmorphic syndrome",4,3,[],[],8,0,19042,"",9,0],[68346,"Rare genetic skin disease",4,5,[],[],8,0,19043,"",0,0],[68347,"Tumor of hematopoietic and lymphoid tissues",4,11,[],[],8,0,19044,"",0,0],[68354,"Rare sleep disorder",4,1,[],[],8,0,19045,"",0,0],[68356,"Leukodystrophy",4,1,[],[],8,0,19046,"",7,0],[68361,"Rare deafness",4,18,[],[],8,0,19047,"",0,0],[68362,"Rare vascular disease",4,23,[],[],8,0,19048,"",0,0],[68363,"Rare dystonia",4,1,[],[],8,0,19049,"",0,0],[68364,"Hemoglobinopathy",4,4,[],[],8,0,19050,"",0,0],[68366,"Lysosomal disease",4,2,[],[],8,0,2561,"",0,0],[68367,"Rare inborn error of metabolism",4,-1,[],[],3,0,19052,"",0,0],[68373,"Peroxisomal disease",4,2,[],[],8,0,19053,"",0,0],[68378,"Congenital limb malformation",4,3,[],[],8,0,19054,"",0,0],[68380,"Mitochondrial disease",4,2,[],[],8,0,4069,"",1,0],[68381,"Neuromuscular disease",4,1,[],[],8,0,19056,"",3,0],[68383,"Rare constitutional aplastic anemia",4,4,[],[],8,0,1713,"",0,0],[68385,"Neurometabolic disease",4,2,[],[],8,0,19058,"",0,0],[68402,"Rare parkinsonian disorder",4,1,[],[],8,0,19059,"",0,0],[68411,"Rare bone tumor",4,11,[],[],8,0,19060,"",0,0],[68415,"Rare parathyroid disease and phosphocalcic metabolism anomaly",4,15,[],[],8,0,19061,"",0,0],[68416,"Rare infectious disease",4,-1,[],[],8,0,19062,"",0,0],[68419,"Rare vascular anomaly",4,23,[],[],8,0,19063,"",0,0],[69028,"Dysostosis with brachydactyly",4,3,[1,0,5],[0,1],8,0,19066,"",0,0],[69061,"Idiopathic steroid-sensitive nephrotic syndrome",9,13,[4],[3],8,0,19067,"",0,0],[69063,"Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization",0,13,[0],[4,0],5,1,19068,"MME",0,0],[69076,"Familial renal glucosuria",0,13,[1,0],[3],8,1,9297,"SLC5A2",1,0],[69077,"Rhabdoid tumor",0,11,[2],[4,0,1,2],5,0,2728,"",0,0],[69078,"Liposarcoma",0,11,[4],[3],3,0,5060,"",0,0],[69082,"Odonto-tricho-ungual-digito-palmar syndrome",1,3,[1],[0,1],5,0,11171,"",0,0],[69083,"Ectodermal dysplasia with natal teeth, Turnpenny type",1,3,[1],[0,2],5,0,11041,"",0,0],[69084,"Pure hair and nail ectodermal dysplasia",1,3,[1,0],[0,1],5,3,19071,"KRT85 KRT74 HOXC13",0,0],[69085,"Limb-mammary syndrome",1,3,[1],[4,0],5,1,11334,"TP63",1,0],[69087,"Naegeli-Franceschetti-Jadassohn syndrome",0,3,[1],[0,1],8,1,8059,"KRT14",1,0],[69088,"Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome",0,3,[5],[0,1],5,1,10295,"IKBKG",0,0],[69125,"Anonychia with flexural pigmentation",1,5,[1],[0,1],5,0,7131,"",0,0],[69126,"PAPA syndrome",0,14,[1],[2],5,1,11462,"PSTPIP1",1,0],[69663,"Low phospholipid-associated cholelithiasis",0,17,[1,0],[6],8,1,10939,"ABCB4",1,0],[69665,"Intrahepatic cholestasis of pregnancy",0,17,[3,2],[6],6,4,100429,"ABCB11 ABCB4 ATP8B1 NR1H4",0,0],[69723,"Tyrosinemia type 3",0,2,[0],[0,1],5,1,10162,"HPD",1,0],[69735,"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome",0,5,[1,0],[0,1],5,1,7670,"SOX18",0,0],[69736,"Bilateral acute depigmentation of the iris",0,10,[4],[6],5,0,19074,"",0,0],[69737,"Bosley-Salih-Alorainy syndrome",1,3,[0],[0,1],5,1,19075,"HOXA1",0,0],[69739,"Athabaskan brainstem dysgenesis syndrome",0,1,[0],[0,1],5,1,11099,"HOXA1",1,0],[69744,"Circumscribed palmoplantar hypokeratosis",0,5,[4],[6],5,0,19076,"",0,0],[69745,"Warty dyskeratoma",0,5,[4],[6],8,0,19077,"",0,0],[70472,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",0,2,[0],[0,1],8,1,9069,"LRPPRC",1,0],[70475,"Radiation proctitis",0,12,[2],[6],2,0,19084,"",0,0],[70476,"Vernal keratoconjunctivitis",0,10,[2],[2],0,0,19085,"",0,0],[70482,"Carcinoma of esophagus",3,11,[],[6],3,0,19086,"",0,0],[70567,"Cholangiocarcinoma",0,11,[2],[6],3,4,19087,"BRCA1 BRCA2 PTPN3 ROS1",0,0],[70568,"Post-transplant lymphoproliferative disease",0,11,[2],[3],2,0,19088,"",0,0],[70573,"Small cell lung cancer",0,11,[2],[6],2,3,8433,"RB1 TP53 TP73",0,0],[70578,"Adult acute respiratory distress syndrome",0,9,[2],[6],2,0,100130,"",0,0],[70588,"Meconium aspiration syndrome",0,9,[2],[0,1],3,0,6851,"",0,0],[70589,"Bronchopulmonary dysplasia",1,9,[2],[0,1],2,0,19091,"",0,0],[70590,"Infantile apnea",0,9,[],[0,1],8,0,19092,"",0,0],[70591,"Chronic thromboembolic pulmonary hypertension",0,9,[2],[5,6,7],3,0,13024,"",0,0],[70592,"Transient predisposition to invasive pyogenic bacterial infection",0,16,[0],[2],5,2,11888,"IRAK4 MYD88",1,0],[70593,"Immunodeficiency due to selective anti-polysaccharide antibody deficiency",0,16,[3],[2,5,6],6,0,19093,"",0,0],[70594,"Dopa-responsive dystonia due to sepiapterin reductase deficiency",0,1,[0],[0,1],5,1,12994,"SPR",1,0],[70595,"Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome",0,1,[0],[6],8,2,11835,"POLG TWNK",1,0],[70596,"Congenital Epstein-Barr virus infection",0,8,[2],[0,1],8,0,19094,"",0,0],[71198,"Rare pulmonary hypertension",4,9,[],[],6,0,19096,"",0,0],[71202,"Rare hemorrhagic disorder due to a constitutional platelet anomaly",4,4,[],[],8,0,19097,"",0,0],[71203,"Autoimmune thrombocytopenia",3,4,[],[],8,0,19098,"",0,0],[71209,"Rare soft tissue tumor",4,11,[],[],8,0,19099,"",0,0],[71211,"Neuromyelitis optica spectrum disorder",0,1,[3],[2,5,6,7],3,0,19100,"",0,0],[71212,"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",0,2,[0],[0,1],7,1,12382,"HADH",1,0],[71213,"Retinal cavernous hemangioma",0,10,[1],[3],8,0,19101,"",0,0],[71267,"Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome",1,3,[0],[0,1],5,0,19102,"",0,0],[71271,"Split hand-split foot-deafness syndrome",1,3,[0],[0,1],5,1,9080,"DLX5",1,0],[71272,"Sandifer syndrome",0,1,[2],[1,2,6],8,0,19104,"",0,0],[71273,"Renal nutcracker syndrome",0,13,[4],[6],6,0,19105,"",0,0],[71274,"Disseminated peritoneal leiomyomatosis",0,11,[4],[6],5,0,6183,"",0,0],[71275,"Rh deficiency syndrome",0,4,[0],[8],8,3,19107,"RHAG RHCE RHD",2,0],[71276,"Silent sinus syndrome",0,18,[2],[6],6,0,19108,"",0,0],[71277,"Classic glucose transporter type 1 deficiency syndrome",0,1,[1,0],[0,1],4,1,11724,"SLC2A1",1,0],[71278,"Congenital brain dysgenesis due to glutamine synthetase deficiency",0,1,[0],[0,1],5,1,12393,"GLUL",1,0],[71279,"CANOMAD syndrome",0,1,[],[6,7],5,0,19109,"",0,0],[71281,"Rare central nervous system and retinal vascular disease",4,1,[],[],8,0,19110,"",0,0],[71289,"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome",1,3,[1],[0],5,2,11555,"HOXA11 MECOM",0,0],[71290,"Familial platelet disorder with associated myeloid malignancy",0,4,[1],[1,2,5,6],5,1,11071,"RUNX1",1,0],[71493,"Familial thrombocytosis",0,4,[1,5],[2],8,3,19111,"THPO JAK2 MPL",0,0],[71505,"Cancer-associated retinopathy",0,10,[2],[6],6,0,19112,"",0,0],[71517,"Rapid-onset dystonia-parkinsonism",0,1,[1,2],[2,5,6],5,1,7496,"ATP1A3",1,0],[71518,"Benign paroxysmal torticollis of infancy",0,1,[1,2,4],[0,1,2],5,1,19113,"CACNA1A",0,0],[71519,"Psychogenic movement disorders",9,1,[2],[2,5,6,7],6,0,19114,"",0,0],[71526,"Obesity due to pro-opiomelanocortin deficiency",7,15,[0],[0,1],5,1,12335,"POMC",1,0],[71528,"Obesity due to prohormone convertase I deficiency",7,15,[0],[0,1],5,1,10961,"PCSK1",1,0],[71529,"Obesity due to melanocortin 4 receptor deficiency",7,15,[1,0],[0,1],2,1,19115,"MC4R",1,0],[71859,"Rare genetic neurological disorder",4,1,[],[],8,0,19117,"",0,0],[71864,"Muscular channelopathy",4,1,[],[],8,0,19119,"",0,0],[73014,"Intractable diarrhea of infancy",4,12,[],[2],8,0,19126,"",0,0],[73217,"Müllerian aplasia",3,3,[1],[5,6],2,0,19128,"",0,0],[73223,"Global developmental delay-osteopenia-ectodermal defect syndrome",1,3,[4],[2],5,0,19129,"",0,0],[73224,"Kidney tubulopathy-dilated cardiomyopathy syndrome",0,13,[1],[4,1,2,5,6],5,1,19130,"RRAGD",0,0],[73229,"HANAC syndrome",0,1,[1],[2],5,1,12726,"COL4A1",1,0],[73230,"Ossification anomalies-psychomotor developmental delay syndrome",0,0,[],[0,1],5,0,19131,"",0,0],[73245,"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome",1,1,[4],[0,1],5,0,19132,"",0,0],[73246,"Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome",1,3,[0],[4,0],5,0,19133,"",0,0],[73256,"Central neurocytoma",0,10,[2],[2,5,6],6,0,19134,"",0,0],[73260,"Paracoccidioidomycosis",0,8,[2],[3],8,0,5894,"",0,0],[73263,"Zygomycosis",0,8,[2],[3],8,0,19136,"",0,0],[73267,"Non-24-hour sleep-wake syndrome",0,1,[4],[3],6,0,19137,"",0,0],[73271,"Bleeding diathesis due to a collagen receptor defect",0,4,[1,0],[3],5,0,19138,"",0,0],[73272,"Growth delay due to insulin-like growth factor type 1 deficiency",0,15,[0],[4,0,1],5,1,12110,"IGF1",1,0],[73273,"Growth delay due to insulin-like growth factor I resistance",0,15,[1,0],[0,1],8,1,10038,"IGF1R",1,0],[73423,"Acute ackee fruit intoxication",0,27,[2],[3],6,0,19140,"",0,0],[75110,"Myiasis",4,8,[],[],8,0,19147,"",0,0],[75233,"Wolman disease",2,2,[0],[0,1],4,1,19148,"LIPA",0,0],[75234,"Cholesteryl ester storage disease",2,2,[0],[2,5,6],4,1,19149,"LIPA",0,0],[75249,"Familial isolated restrictive cardiomyopathy",0,7,[1,0,2],[3],6,5,19150,"TNNI3 TNNT2 FLNC MYPN KIF20A",0,0],[75325,"Osteosclerosis-ichthyosis-premature ovarian failure syndrome",0,0,[4],[5,6],5,0,12387,"",0,0],[75326,"Familial isolated retinal arteriolar tortuosity",0,1,[1,2],[2],5,1,8373,"COL4A1",0,0],[75327,"North Carolina macular dystrophy",0,10,[1],[2],5,1,7630,"DHS6S1",1,0],[75373,"Progressive bifocal chorioretinal atrophy",0,10,[1],[0,1],5,1,10932,"DHS6S1",1,0],[75374,"Bradyopsia",0,10,[0],[2],5,2,12033,"RGS9 RGS9BP",2,0],[75376,"Autosomal dominant drusen",0,10,[1],[6],8,3,7471,"CFH CFI EFEMP1",1,0],[75377,"Central areolar choroidal dystrophy",0,10,[1],[6],8,3,8982,"PRPH2 GUCA1A GUCY2D",0,0],[75378,"Oligocone trichromacy",0,10,[1,0],[1,2,5,6],5,0,19151,"",0,0],[75381,"Cystoid macular dystrophy",0,10,[1],[2],5,0,7935,"",0,0],[75382,"Oguchi disease",1,10,[0],[0,1],6,2,19152,"SAG GRK1",1,0],[75389,"Brain malformation-congenital heart disease-postaxial polydactyly syndrome",1,3,[4],[0,1],5,0,19153,"",0,0],[75391,"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",0,16,[0],[2],5,1,12383,"MCM4",1,0],[75392,"Periodontal Ehlers-Danlos syndrome",0,14,[1],[2],6,2,7527,"C1S C1R",0,0],[75496,"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome",2,14,[0],[0],5,1,7526,"B4GALT7",1,0],[75497,"X-linked Ehlers-Danlos syndrome",0,14,[5],[5],5,1,10586,"FLNA",0,0],[75563,"X-linked sideroblastic anemia",0,4,[5],[3],6,1,20721,"ALAS2",1,0],[75564,"Acquired idiopathic sideroblastic anemia",0,4,[2],[6],5,2,19157,"TET2 SF3B1",0,0],[75565,"Tropical endomyocardial fibrosis",0,7,[2],[2,5,6],6,0,19158,"",0,0],[75566,"Loeffler endocarditis",0,7,[],[2,5,6],8,0,19159,"",0,0],[75567,"Primary progressive freezing gait",9,1,[4],[6],8,0,19160,"",0,0],[75840,"Ullrich congenital muscular dystrophy",0,1,[1,0],[0,1],4,4,355,"COL6A1 COL6A2 COL6A3 COL12A1",0,0],[75857,"6q terminal deletion syndrome",1,3,[2,4],[0,1],5,1,19164,"ERMARD",0,0],[75858,"MORM syndrome",0,3,[0],[4,0,1],8,1,12423,"INPP5E",1,0],[77240,"Primary lymphedema",4,3,[1,0],[3],2,0,19175,"",0,0],[77258,"Trichorhinophalangeal syndrome type 1",1,3,[1],[0,1],5,1,19176,"TRPS1",1,0],[77259,"Gaucher disease type 1",2,2,[0],[3],3,2,9265,"GBA1 SCARB2",1,0],[77260,"Gaucher disease type 2",2,2,[0],[1],5,1,9266,"GBA1",1,0],[77261,"Gaucher disease type 3",2,2,[0],[3],5,1,9267,"GBA1",1,0],[77292,"Infantile neurovisceral acid sphingomyelinase deficiency",0,2,[0],[0,1],8,1,9756,"SMPD1",1,0],[77293,"Chronic visceral acid sphingomyelinase deficiency",0,2,[0],[2],6,1,11871,"SMPD1",1,0],[77295,"Odontoleukodystrophy",2,1,[0],[1],5,1,19177,"POLR3A",1,0],[77296,"Morgagni-Stewart-Morel syndrome",1,3,[1,5],[6],8,0,7766,"",0,0],[77297,"Majeed syndrome",0,14,[0],[1,2],5,1,12316,"LPIN2",1,0],[77298,"Anophthalmia/microphthalmia-esophageal atresia syndrome",1,3,[1,2],[4,0],5,1,8799,"SOX2",1,0],[77299,"Microphthalmia-brain atrophy syndrome",1,3,[0],[0],5,0,12638,"",0,0],[77300,"Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome",1,3,[4],[4,0,1],5,0,19178,"",0,0],[77301,"Monosomy 9q22.3 syndrome",1,3,[2,4],[0,1],5,1,19179,"PTCH1",0,0],[77828,"Genetic obesity",4,15,[],[],8,0,19182,"",3,0],[77830,"Rare genetic odontologic disease",4,6,[],[],8,0,19183,"",0,0],[79062,"Disorder of amino acid and other organic acid metabolism",4,2,[],[],8,0,19189,"",0,0],[79076,"Juvenile polyposis of infancy",2,12,[1,2],[0,1],5,2,19190,"PTEN BMPR1A",0,0],[79078,"IgG4-related dacryoadenitis and sialadenitis",2,14,[2],[3],8,0,19191,"",0,0],[79083,"PPARG-related familial partial lipodystrophy",0,15,[1],[6],5,1,11448,"PPARG",1,0],[79084,"Familial partial lipodystrophy, Köbberling type",0,15,[1],[2],5,1,12072,"LMNA",0,0],[79085,"AKT2-related familial partial lipodystrophy",0,15,[1],[6],5,1,19192,"AKT2",1,0],[79086,"Acquired generalized lipodystrophy",0,15,[2],[3],3,0,19193,"",0,0],[79087,"Acquired partial lipodystrophy",0,15,[3,2],[2,5,6],4,1,12104,"LMNB2",0,0],[79088,"Localized lipodystrophy",3,15,[4],[3],8,0,19194,"",0,0],[79091,"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome",0,1,[1],[0,1,5],5,1,19195,"MYH2",0,0],[79094,"Grange syndrome",1,3,[1,0],[2],5,1,11243,"YY1AP1",1,0],[79095,"Congenital bile acid synthesis defect type 4",0,17,[0],[3],5,1,8967,"AMACR",1,0],[79096,"Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy",0,1,[0],[0,1],4,1,12407,"PNPO",1,0],[79097,"Folinic acid-responsive seizures",0,1,[4],[0,1],8,0,19197,"",0,0],[79098,"Sympathetic ophthalmia",0,10,[2],[3],5,0,19198,"",0,0],[79099,"Interstitial granulomatous dermatitis with arthritis",0,14,[2],[6],5,0,19199,"",0,0],[79100,"Atrophoderma vermiculata",0,5,[0,4],[2],8,1,8849,"LRP1",0,0],[79101,"Hyperprolinemia type 2",0,2,[0],[3],8,1,9401,"ALDH4A1",1,0],[79102,"Thyrotoxic periodic paralysis",0,1,[3,2],[6],4,3,19201,"CACNA1S GABRA3 KCNJ18",0,0],[79105,"Myxofibrosarcoma",0,11,[2],[6],8,3,19202,"FUS CREB3L2 CREB3L1",0,0],[79106,"Eiken syndrome",1,0,[0],[0,1],5,1,10803,"PTH1R",1,0],[79107,"Developmental malformations-deafness-dystonia syndrome",1,3,[1],[1,5],5,1,11823,"ACTB",1,0],[79113,"Mandibulofacial dysostosis-microcephaly syndrome",1,3,[1],[0],5,1,12516,"EFTUD2",1,0],[79118,"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome",0,15,[0],[0],5,1,12436,"GLIS3",2,0],[79124,"Hepatic veno-occlusive disease-immunodeficiency syndrome",0,16,[0],[1],5,1,9338,"SP110",1,0],[79126,"Acute interstitial pneumonia",0,9,[4],[6],3,0,19203,"",0,0],[79127,"Respiratory bronchiolitis-interstitial lung disease syndrome",0,9,[2],[6],8,0,19204,"",0,0],[79128,"Lymphoid interstitial pneumonia",0,9,[2],[3],8,0,9537,"",0,0],[79129,"Trichodysplasia-amelogenesis imperfecta syndrome",1,3,[5],[0,1],5,0,19205,"",0,0],[79133,"Focal facial dermal dysplasia type I",2,3,[1],[4,0],5,0,7627,"",0,0],[79134,"DEND syndrome",0,15,[1,0,2],[0,1],5,3,19207,"ABCC8 KCNJ11 NARS2",0,0],[79135,"Episodic ataxia type 3",0,1,[1],[3],5,0,11682,"",0,0],[79136,"Episodic ataxia type 4",0,1,[1],[6],5,0,11681,"",0,0],[79137,"Generalized epilepsy-paroxysmal dyskinesia syndrome",0,1,[1],[2],8,1,12276,"KCNMA1",1,0],[79138,"Bickerstaff brainstem encephalitis",0,1,[2],[3],8,0,19208,"",0,0],[79139,"Japanese encephalitis",0,8,[2],[3],8,0,19209,"",0,0],[79140,"Cutaneous neuroendocrine carcinoma",0,11,[2],[6,7],3,0,19210,"",0,0],[79141,"Hereditary painful callosities",0,5,[1],[8],5,0,7248,"",0,0],[79143,"Isolated congenital anonychia",0,5,[1,0],[0,1],5,0,19211,"",0,0],[79144,"Isolated congenital onychodysplasia",0,5,[],[0],6,0,11595,"",0,0],[79145,"Dowling-Degos disease",0,5,[1],[5,6],8,4,8371,"KRT5 PSENEN POFUT1 POGLUT1",1,0],[79146,"Familial progressive hyperpigmentation",0,5,[1],[0,1],5,1,13648,"KITLG",0,0],[79147,"Familial reactive perforating collagenosis",0,5,[],[2],5,0,9000,"",0,0],[79148,"Elastosis perforans serpiginosa",0,5,[],[3],6,0,7529,"",0,0],[79149,"Dermochondrocorneal dystrophy",0,10,[0],[2],5,0,9094,"",0,0],[79150,"Linear and whorled nevoid hypermelanosis",0,5,[],[0,1],5,0,13688,"",0,0],[79151,"Acrokeratosis verruciformis of Hopf",0,5,[1],[0,1,6],6,1,7048,"ATP2A2",1,0],[79152,"Disseminated superficial actinic porokeratosis",0,5,[1],[2,5,6,7],6,4,19212,"MVK SLC17A9 MVD FDPS",1,0],[79153,"Idiopathic trachyonychia",0,5,[1],[2],8,0,8060,"",1,0],[79154,"2-aminoadipic 2-oxoadipic aciduria",0,2,[0],[1,2],5,1,8774,"DHTKD1",1,0],[79155,"Hydroxykynureninuria",0,1,[0],[0,1],5,1,9372,"KYNU",1,0],[79156,"Seizures-intellectual disability due to hydroxylysinuria syndrome",0,1,[0],[1],5,0,9373,"",0,0],[79157,"2-methylbutyryl-CoA dehydrogenase deficiency",0,2,[0],[0,1],5,1,12392,"ACADSB",1,0],[79158,"Cerebral organic aciduria",4,2,[],[],8,0,19213,"",0,0],[79159,"Isobutyryl-CoA dehydrogenase deficiency",0,2,[0],[0,1],8,1,12648,"ACAD8",1,0],[79161,"Disorder of carbohydrate metabolism",4,2,[],[],8,0,19214,"",0,0],[79163,"Classic organic aciduria",4,2,[],[],8,0,19215,"",0,0],[79166,"Disorder of amino acid absorption and transport",4,2,[],[],8,0,19216,"",0,0],[79167,"Disorder of urea cycle metabolism and ammonia detoxification",4,2,[],[],8,0,4739,"",0,0],[79168,"Disorder of bile acid synthesis",4,2,[],[3],4,0,19218,"",0,0],[79169,"Disorder of neurotransmitter metabolism and transport",4,2,[],[],8,0,19219,"",0,0],[79171,"Disorder of cobalamin metabolism and transport",4,2,[],[],8,0,19220,"",1,0],[79172,"Creatine deficiency syndrome",3,2,[0,2,5],[1,2],6,0,456,"",0,0],[79173,"Disorder of methionine cycle and sulfur amino acid metabolism",4,2,[],[],8,0,19222,"",0,0],[79174,"Disorder of fatty acid oxidation and ketone body metabolism",4,2,[],[],8,0,19223,"",0,0],[79175,"Disorder of gamma-aminobutyric acid metabolism",4,2,[],[],8,0,698,"",0,0],[79177,"Gluconeogenesis disorder",4,2,[],[],8,0,19225,"",0,0],[79178,"Glucose transport disorder",4,2,[],[],8,0,19226,"",0,0],[79179,"Disorder of glycerol metabolism",4,2,[],[],8,0,19227,"",0,0],[79181,"Disorder of histidine metabolism",4,2,[],[],8,0,19228,"",0,0],[79183,"Disorder of ketolysis",4,2,[],[],8,0,19229,"",0,0],[79185,"Disorder of ornithine or proline metabolism",4,2,[],[],8,0,19230,"",0,0],[79186,"Disorder of pentose phosphate metabolism",4,2,[],[],8,0,19231,"",0,0],[79187,"Disorder of peptide metabolism",4,2,[],[],8,0,19232,"",0,0],[79188,"Peroxisomal beta-oxidation disorder",4,2,[],[],8,0,19233,"",0,0],[79189,"Peroxisome biogenesis disorder",3,2,[0],[0,1],3,0,19234,"",14,0],[79190,"Disorder of phenylalanin or tyrosine metabolism",4,2,[],[],8,0,19235,"",0,0],[79191,"Disorder of purine metabolism",4,2,[],[],8,0,19236,"",0,0],[79192,"Disorder of pyridoxine metabolism",4,2,[],[],8,0,19237,"",0,0],[79193,"Disorder of pyrimidine metabolism",4,2,[],[],8,0,19238,"",0,0],[79194,"Disorder of serine or glycine metabolism",4,2,[],[],8,0,19239,"",0,0],[79195,"Sterol biosynthesis disorder",4,2,[],[],8,0,19240,"",0,0],[79196,"Disorder of the gamma-glutamyl cycle",4,2,[0],[0,1,2],8,0,19241,"",0,0],[79197,"Disorder of branched-chain amino acid metabolism",4,2,[],[],8,0,19242,"",0,0],[79200,"Disorder of energy metabolism",4,2,[],[],8,0,19243,"",0,0],[79201,"Glycogen storage disease",4,2,[],[],3,0,2412,"",1,0],[79204,"Lipid storage disease",4,2,[],[],8,0,19245,"",0,0],[79207,"Disorder of lysosomal amino acid transport",4,2,[],[],8,0,19246,"",0,0],[79212,"Mucolipidosis",4,2,[],[],8,0,19248,"",1,0],[79213,"Mucopolysaccharidosis",4,2,[],[],3,0,19249,"",1,0],[79214,"Disorder of biogenic amine metabolism and transport",4,2,[],[],8,0,19250,"",0,0],[79215,"Oligosaccharidosis",4,2,[],[],8,0,19251,"",0,0],[79217,"Other metabolic disease with skin involvement",4,2,[],[],8,0,19252,"",0,0],[79219,"Metabolic disease involving other neurotransmitter deficiency",4,2,[],[],8,0,19253,"",0,0],[79224,"Disorder of purine or pyrimidine metabolism",4,2,[],[],8,0,19254,"",0,0],[79225,"Sphingolipidosis",4,2,[],[],8,0,19255,"",0,0],[79226,"Sterol metabolism disorder",4,2,[],[],8,0,19256,"",0,0],[79230,"HJV or HAMP-related hemochromatosis",0,2,[0],[2,5,6],5,2,19257,"HAMP HJV",0,0],[79233,"Hypoxanthine guanine phosphoribosyltransferase partial deficiency",0,13,[5],[3],8,1,10299,"HPRT1",1,0],[79234,"Crigler-Najjar syndrome type 1",2,17,[0],[0],8,1,21020,"UGT1A1",1,0],[79235,"Crigler-Najjar syndrome type 2",2,17,[0],[0,1],8,1,11725,"UGT1A1",1,0],[79237,"Galactokinase deficiency",0,2,[0],[0,1],8,1,9255,"GALK1",1,0],[79238,"Galactose epimerase deficiency",0,2,[0],[0,1],8,0,9257,"",1,0],[79239,"Classic galactosemia",0,2,[0],[0,1],3,1,9258,"GALT",1,0],[79240,"Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency",0,2,[0],[2],8,1,9868,"PHKB",1,0],[79241,"Biotinidase deficiency",0,2,[0],[0,1,2,5,6],3,1,9665,"BTD",1,0],[79242,"Holocarboxylase synthetase deficiency",0,2,[0],[0,1,2],4,1,9666,"HLCS",1,0],[79243,"Pyruvate dehydrogenase E1-alpha deficiency",2,2,[7],[0,1],8,2,10717,"PDHA1 LONP1",1,0],[79244,"Pyruvate dehydrogenase E2 deficiency",2,2,[0],[2],8,1,9502,"DLAT",1,0],[79246,"Pyruvate dehydrogenase phosphatase deficiency",2,2,[0],[0,1],8,1,12120,"PDP1",1,0],[79255,"GM1 gangliosidosis type 1",2,2,[0],[0,1],6,1,9260,"GLB1",1,0],[79256,"GM1 gangliosidosis type 2",2,2,[0],[2],5,1,9261,"GLB1",1,0],[79257,"GM1 gangliosidosis type 3",2,2,[0],[3],5,1,9262,"GLB1",1,0],[79258,"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia",2,2,[0],[0,1],3,1,9287,"G6PC1",1,0],[79259,"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib",2,2,[0],[0,1],3,1,9288,"SLC37A4",1,0],[79269,"Sanfilippo syndrome type A",7,2,[0],[],3,1,9655,"SGSH",1,0],[79270,"Sanfilippo syndrome type B",7,2,[0],[0,1],4,1,9656,"NAGLU",1,0],[79271,"Sanfilippo syndrome type C",7,2,[0],[2],3,1,9657,"HGSNAT",1,0],[79272,"Sanfilippo syndrome type D",7,2,[0],[],4,1,9658,"GNS",1,0],[79273,"Hereditary coproporphyria",0,2,[1],[5,6],8,1,7369,"CPOX",1,0],[79276,"Acute intermittent porphyria",0,2,[1],[5,6],4,1,8294,"HMBS",1,0],[79277,"Congenital erythropoietic porphyria",0,2,[0],[3],5,2,9902,"UROS GATA1",1,0],[79278,"Autosomal erythropoietic protoporphyria",0,2,[0],[0,1],4,1,19263,"FECH",0,0],[79279,"Alpha-N-acetylgalactosaminidase deficiency type 1",2,2,[0],[0,1],5,1,12221,"NAGA",1,0],[79280,"Alpha-N-acetylgalactosaminidase deficiency type 2",2,2,[0],[6],5,1,12222,"NAGA",1,0],[79281,"Alpha-N-acetylgalactosaminidase deficiency type 3",2,2,[0],[2],5,1,19264,"NAGA",0,0],[79282,"Methylmalonic acidemia with homocystinuria, type cblC",2,2,[0],[3],6,1,10184,"MMACHC",2,0],[79283,"Methylmalonic acidemia with homocystinuria, type cblD",2,2,[0],[3],5,1,10185,"MMADHC",1,0],[79284,"Methylmalonic acidemia with homocystinuria type cblF",2,2,[0],[2],5,1,10183,"LMBRD1",1,0],[79292,"Fish-eye disease",2,15,[0],[5,6],5,1,7620,"LCAT",1,0],[79293,"Familial LCAT deficiency",2,15,[0,2],[3],5,1,9515,"LCAT",1,0],[79298,"Diazoxide-resistant focal hyperinsulinism",3,15,[],[3],8,0,19265,"",0,0],[79299,"Congenital glucokinase-related hyperinsulinism",0,2,[1],[0,1],8,1,11236,"GCK",1,0],[79301,"Congenital bile acid synthesis defect type 1",0,17,[0],[0,1],8,1,11906,"HSD3B7",1,0],[79302,"Congenital bile acid synthesis defect type 3",0,17,[0],[0,1],5,1,13439,"CYP7B1",1,0],[79303,"Congenital bile acid synthesis defect type 2",0,17,[0],[0,1],8,1,9339,"AKR1D1",1,0],[79304,"Progressive familial intrahepatic cholestasis type 2",2,17,[0],[0,1],8,1,11156,"ABCB11",1,0],[79305,"Progressive familial intrahepatic cholestasis type 3",2,17,[0],[3],8,1,11214,"ABCB4",1,0],[79306,"Progressive familial intrahepatic cholestasis type 1",2,17,[0],[0,1],8,2,8892,"ATP8B1 MYO5B",1,0],[79310,"Vitamin B12-responsive methylmalonic acidemia type cblA",2,2,[0],[2],5,1,9613,"MMAA",1,0],[79311,"Vitamin B12-responsive methylmalonic acidemia type cblB",2,2,[0],[2],8,1,9614,"MMAB",1,0],[79312,"Vitamin B12-unresponsive methylmalonic acidemia type mut-",2,2,[0],[0,1],6,1,19267,"MMUT",0,0],[79314,"L-2-hydroxyglutaric aciduria",0,2,[0],[2],5,1,9370,"L2HGDH",1,0],[79315,"D-2-hydroxyglutaric aciduria",0,2,[1,0],[0,1,2],5,2,10924,"D2HGDH IDH2",0,0],[79318,"PMM2-CDG",0,2,[0],[0,1],3,1,8907,"PMM2",1,0],[79319,"MPI-CDG",0,2,[0],[0,1],5,1,11257,"MPI",1,0],[79320,"ALG6-CDG",0,2,[0],[0,1],5,1,11291,"ALG6",1,0],[79321,"ALG3-CDG",0,2,[0],[0,1],5,1,10998,"ALG3",1,0],[79322,"DPM1-CDG",0,2,[0],[0,1],5,1,12123,"DPM1",1,0],[79323,"MPDU1-CDG",0,2,[0],[0,1],5,1,12211,"MPDU1",1,0],[79324,"ALG12-CDG",0,2,[0],[0,1],5,1,11783,"ALG12",1,0],[79325,"ALG8-CDG",0,2,[0],[4,0,1],5,1,11969,"ALG8",1,0],[79326,"ALG2-CDG",0,2,[0],[0,1],5,1,11933,"ALG2",1,0],[79327,"ALG1-CDG",0,2,[0],[0,1],5,1,12052,"ALG1",1,0],[79328,"ALG9-CDG",0,2,[0],[4,0,1],5,1,12117,"ALG9",1,0],[79329,"MGAT2-CDG",0,2,[0],[0,1],5,1,8908,"MGAT2",1,0],[79330,"MOGS-CDG",0,2,[0],[0,1],5,1,11629,"MOGS",1,0],[79332,"B4GALT1-CDG",0,2,[0],[0],5,1,11772,"B4GALT1",1,0],[79333,"COG7-CDG",0,2,[0],[0,1],5,1,12118,"COG7",1,0],[79345,"Brachytelephalangic chondrodysplasia punctata",1,0,[5],[4,0],6,1,10555,"ARSL",1,0],[79346,"Chondrodysplasia punctata, tibial-metacarpal type",1,0,[4],[4,0],5,0,7322,"",0,0],[79347,"Chondrodysplasia punctata, Toriello type",1,0,[0],[0],5,0,8973,"",0,0],[79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",7,1,[0],[1],5,1,13531,"PSPH",1,0],[79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",7,1,[0],[1,2,5],5,1,11152,"PHGDH",1,0],[79353,"Epidermal disease",4,5,[],[],8,0,19268,"",1,0],[79354,"Ichthyosis",4,5,[],[],8,0,19269,"",3,0],[79355,"Erythrokeratoderma",4,5,[],[],8,0,19270,"",0,0],[79356,"Acrokeratoderma",4,5,[],[],8,0,19271,"",0,0],[79357,"Hereditary palmoplantar keratoderma",4,5,[],[],8,0,19272,"",1,0],[79358,"Porokeratosis",4,5,[],[],8,0,6602,"",0,0],[79359,"Other epidermal disorder",4,5,[],[],8,0,19274,"",0,0],[79360,"Other genetic epidermal disease",4,5,[],[],8,0,19275,"",0,0],[79361,"Inherited epidermolysis bullosa",4,5,[1,0],[3],4,0,19276,"",1,0],[79362,"Epidermal appendage anomaly",4,5,[],[],8,0,19277,"",0,0],[79363,"Hair anomaly",4,5,[],[],8,0,19278,"",0,0],[79364,"Alopecia",4,5,[],[],8,0,4907,"",0,0],[79365,"Rare disorder with hypertrichosis",4,5,[],[],8,0,19280,"",1,0],[79366,"Isolated hair shaft abnormality",4,5,[],[],8,0,19281,"",0,0],[79367,"Syndromic hair shaft abnormality",4,5,[],[],8,0,19282,"",0,0],[79368,"Nail anomaly",4,5,[],[],8,0,19283,"",0,0],[79369,"Isolated nail anomaly",4,5,[],[],8,0,19284,"",0,0],[79370,"Syndromic nail anomaly",4,5,[],[],8,0,19285,"",0,0],[79372,"Sebaceous gland anomaly",4,5,[],[],8,0,19286,"",0,0],[79373,"Ectodermal dysplasia syndrome",4,5,[],[0,1],1,0,19287,"",3,0],[79374,"Pigmentation anomaly of the skin",4,5,[],[],8,0,19288,"",0,0],[79375,"Hyperpigmentation of the skin",4,5,[],[],8,0,19289,"",0,0],[79376,"Hypopigmentation of the skin",4,5,[],[],8,0,19290,"",0,0],[79377,"Dermis disorder",4,5,[],[],8,0,19291,"",0,0],[79378,"Dermis elastic tissue disorder",4,5,[],[],8,0,19292,"",0,0],[79379,"Skin vascular disease",4,5,[],[],8,0,19293,"",0,0],[79380,"Mixed dermis disorder",4,5,[],[],8,0,19294,"",0,0],[79381,"Other dermis disorder",4,5,[],[],8,0,21154,"",0,0],[79382,"Subcutaneous tissue disease",4,5,[],[],8,0,19296,"",0,0],[79384,"Rare urticaria",4,5,[],[],8,0,19298,"",0,0],[79385,"Unclassified genetic skin disorder",4,5,[],[],8,0,19299,"",0,0],[79386,"Rare skin tumor or hamartoma",4,5,[],[],8,0,19300,"",0,0],[79387,"Metabolic disease with skin involvement",4,5,[],[],8,0,19301,"",0,0],[79388,"Mucopolysaccharidosis with skin involvement",4,5,[],[],8,0,10674,"",1,0],[79389,"Premature aging",4,5,[],[],8,0,19303,"",0,0],[79390,"Rare photodermatosis",4,5,[],[],8,0,19304,"",0,0],[79391,"Immune deficiency with skin involvement",4,5,[],[],8,0,19305,"",0,0],[79394,"Congenital ichthyosiform erythroderma",0,5,[0],[0,1],4,9,19306,"ABCA12 ALOX12B ALOXE3 TGM1 NIPAL4 PNPLA1 CERS3 SULT2B1 SDR9C7",2,0],[79395,"Keratoderma hereditarium mutilans with ichthyosis",0,5,[1],[0,1],5,1,11396,"LORICRIN",1,0],[79396,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",0,5,[1],[0],8,2,7550,"KRT14 KRT5",2,0],[79397,"Epidermolysis bullosa simplex with mottled pigmentation",0,5,[1],[0,1],8,2,7556,"KRT14 KRT5",1,0],[79399,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form",0,5,[1,2],[0,1],8,2,7554,"KRT14 KRT5",2,0],[79400,"Localized epidermolysis bullosa simplex",0,5,[1],[2],8,2,7551,"KRT14 KRT5",2,0],[79401,"PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement",0,5,[1],[0,1],5,1,7555,"PLEC",1,0],[79402,"Intermediate generalized junctional epidermolysis bullosa",0,5,[0],[0],8,5,19307,"COL17A1 ITGB4 LAMA3 LAMB3 LAMC2",0,0],[79403,"Junctional epidermolysis bullosa with pyloric atresia",0,5,[0],[4,0],5,2,9183,"ITGA6 ITGB4",2,0],[79404,"Severe generalized junctional epidermolysis bullosa",0,5,[0],[0,1],4,3,9182,"LAMA3 LAMB3 LAMC2",3,0],[79405,"Junctional epidermolysis bullosa inversa",0,5,[0],[0,1],5,0,19308,"",0,0],[79406,"Late-onset junctional epidermolysis bullosa",0,5,[0],[2,5,6],5,1,19309,"COL17A1",0,0],[79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",0,5,[0],[0],4,2,9179,"COL7A1 MMP1",1,0],[79409,"Recessive dystrophic epidermolysis bullosa inversa",0,5,[0],[0,1],5,1,19310,"COL7A1",0,0],[79410,"Localized dystrophic epidermolysis bullosa, pretibial form",2,5,[1,0],[0,1],5,1,7552,"COL7A1",1,0],[79411,"Self-improving dystrophic epidermolysis bullosa",0,5,[1,0],[0,1],5,1,7548,"COL7A1",1,0],[79414,"Woolly hair nevus",0,5,[2],[0,1],5,1,19311,"HRAS",0,0],[79430,"Hermansky-Pudlak syndrome",0,16,[0],[0,1],2,0,19312,"",1,0],[79431,"Oculocutaneous albinism type 1A",2,5,[0],[0,1],3,1,8745,"TYR",1,0],[79432,"Oculocutaneous albinism type 2",0,5,[0],[0,1],3,2,8746,"OCA2 MC1R",2,0],[79433,"Oculocutaneous albinism type 3",0,5,[0],[0,1],2,1,8747,"TYRP1",1,0],[79434,"Oculocutaneous albinism type 1B",2,5,[0],[0,1],3,1,11749,"TYR",1,0],[79435,"Oculocutaneous albinism type 4",0,5,[0],[0,1],3,1,11683,"SLC45A2",1,0],[79443,"Pseudohypoparathyroidism type 1A",0,15,[1],[0,1,2],6,1,7078,"GNAS",1,0],[79444,"Pseudohypoparathyroidism type 1C",0,15,[1],[0,1,2],6,1,12911,"GNAS",1,0],[79445,"Pseudopseudohypoparathyroidism",0,15,[1],[3],6,1,12912,"GNAS",1,0],[79447,"X-linked lethal multiple pterygium syndrome",1,3,[7,5],[4,0],5,0,10716,"",0,0],[79452,"Milroy disease",0,3,[1],[4,0,1],3,1,7919,"FLT4",1,0],[79455,"Cutaneous mastocytoma",0,5,[2],[3],8,1,19314,"KIT",0,0],[79456,"Diffuse cutaneous mastocytosis",0,5,[2],[0,1],5,0,19315,"",0,0],[79457,"Maculopapular cutaneous mastocytosis",0,5,[2],[3],8,0,19316,"",0,0],[79466,"Inflammatory linear verrucous epidermal nevus",2,5,[],[],8,0,19318,"",0,0],[79467,"Verrucous nevus",2,5,[],[],8,0,19319,"",0,0],[79468,"Acanthokeratolytic verrucous nevus",2,5,[],[],8,0,19320,"",0,0],[79473,"Variegate porphyria",0,2,[1],[5,6],4,1,8297,"PPOX",1,0],[79474,"Atypical Werner syndrome",0,3,[1,4],[5,6],5,1,19321,"LMNA",0,0],[79476,"Griscelli syndrome type 1",2,5,[0],[1,2],5,1,8962,"MYO5A",1,0],[79477,"Griscelli syndrome type 2",2,5,[0],[1,2],5,1,11872,"RAB27A",1,0],[79478,"Griscelli syndrome type 3",2,5,[0],[2],5,2,12220,"MLPH MYO5A",1,0],[79479,"Pemphigus vegetans",0,5,[],[3],4,0,19322,"",0,0],[79480,"Pemphigus erythematosus",0,5,[],[2,5,6],6,0,19323,"",0,0],[79481,"Pemphigus foliaceus",0,5,[],[3],3,0,19324,"",0,0],[79483,"Phakomatosis cesioflammea",2,3,[2],[],8,2,19325,"GNAQ GNA11",0,0],[79484,"Phakomatosis cesiomarmorata",2,3,[2],[],8,1,19326,"GNA11",0,0],[79485,"Phakomatosis spilorosea",2,3,[2],[],8,0,19327,"",0,0],[79489,"Macrocystic lymphatic malformation",2,3,[2],[0,1],8,0,19328,"",0,0],[79490,"Microcystic lymphatic malformation",2,3,[2],[0,1],8,0,19329,"",0,0],[79492,"Pili gemini",0,5,[],[2,5,6,7],6,0,19330,"",0,0],[79493,"Brooke-Spiegler syndrome",0,5,[1],[5,6],5,0,11512,"",1,0],[79495,"X-linked congenital generalized hypertrichosis",2,5,[7],[],8,1,10614,"SOX3",0,0],[79499,"Autosomal dominant deafness-onychodystrophy syndrome",1,3,[1],[4,0],5,1,7420,"ATP6V1B2",1,0],[79500,"DOORS syndrome",1,3,[0],[4,0,1],5,2,9079,"TBC1D24 ATP6V1B2",2,0],[79501,"Punctate palmoplantar keratoderma type 1",0,5,[1],[5,6],3,2,19332,"COL14A1 AAGAB",0,0],[79502,"Punctate palmoplantar keratoderma type 2",0,5,[1],[6],5,0,8292,"",0,0],[79503,"Ichthyosis hystrix of Curth-Macklin",0,5,[1,2],[2],5,1,7808,"KRT1",1,0],[79507,"Hypotonia-failure to thrive-microcephaly syndrome",0,2,[0],[0,1],5,0,13539,"",0,0],[79643,"Autosomal recessive hyperinsulinism due to SUR1 deficiency",0,2,[0],[],8,1,19333,"ABCC8",0,0],[79644,"Autosomal recessive hyperinsulinism due to Kir6.2 deficiency",0,2,[0],[0],8,1,19334,"KCNJ11",0,0],[79651,"Mild hyperphenylalaninemia",0,2,[0],[0,1],8,0,19335,"",0,0],[79669,"Autoimmune bullous skin disease",3,5,[],[],8,0,19337,"",0,0],[83001,"Urogenital tract malformation",4,3,[],[],8,0,19356,"",0,0],[83311,"Rocky Mountain spotted fever",0,8,[2],[3],8,0,19359,"",0,0],[83312,"Rickettsialpox",0,8,[2],[3],6,0,19360,"",0,0],[83313,"Boutonneuse fever",0,8,[2],[3],8,0,24472,"",0,0],[83314,"Epidemic typhus",0,8,[2],[3],8,0,19362,"",0,0],[83315,"Murine typhus",0,8,[2],[3],8,0,330,"",0,0],[83316,"Pseudotyphus of California",0,8,[2],[3],8,0,19364,"",0,0],[83317,"Scrub typhus",0,8,[],[3],3,0,19365,"",0,0],[83330,"Proximal spinal muscular atrophy type 1",2,1,[0],[0,1],8,3,9669,"SMN2 NAIP SMN1",1,0],[83418,"Proximal spinal muscular atrophy type 2",2,1,[0],[1],3,3,9673,"SMN2 NAIP SMN1",1,0],[83419,"Proximal spinal muscular atrophy type 3",2,1,[0],[1,2,5,6],4,3,9672,"SMN2 NAIP SMN1",2,0],[83420,"Proximal spinal muscular atrophy type 4",2,1,[0],[6],6,2,10056,"SMN2 SMN1",1,0],[83450,"Regional odontodysplasia",0,6,[2],[2],6,0,19367,"",0,0],[83451,"Florid cemento-osseous dysplasia",0,6,[2],[6],8,0,19368,"",0,0],[83452,"Complex regional pain syndrome",0,1,[2],[3],2,0,19369,"",0,0],[83453,"Vulvovaginal gingival syndrome",0,19,[2],[6],6,0,19370,"",0,0],[83454,"Glomuvenous malformation",1,3,[1],[0,1,2,5,6],8,1,7672,"GLMN",1,0],[83461,"Congenital primary aphakia",1,3,[0],[4,0,1],8,1,12456,"FOXE3",1,0],[83463,"Microtia",6,3,[1,0,2],[0,1],2,1,10920,"HOXA2",0,0],[83465,"Narcolepsy type 2",0,1,[4],[2,5,6],2,4,19371,"HCRT HLA-DRB1 HLA-DQB1 ZNF365",0,0],[83467,"Morvan syndrome",0,1,[],[6],5,0,8718,"",0,0],[83468,"Solitary bone cyst",0,0,[2],[2],8,0,19372,"",0,0],[83469,"Desmoplastic small round cell tumor",0,11,[2],[5,6],5,2,19373,"WT1 EWSR1",0,0],[83471,"T-cell immunodeficiency with thymic aplasia",0,16,[0],[0,1],8,1,9451,"FOXN1",0,0],[83472,"CAMOS syndrome",1,3,[0],[0,1],5,2,19374,"ZNF592 WDR73",0,0],[83473,"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome",1,3,[1,2],[0,1],5,4,19375,"PIK3R2 PIK3R2 CCND2 AKT3",0,0],[83476,"West-Nile encephalitis",0,8,[2],[3],5,0,19376,"",0,0],[83482,"Mycoplasma encephalitis",0,8,[2],[3],8,0,19377,"",0,0],[83483,"La Crosse encephalitis",0,8,[2],[3],3,0,19378,"",0,0],[83484,"St. Louis encephalitis",0,8,[2],[3],8,0,5969,"",0,0],[83593,"Western equine encephalitis",0,8,[2],[3],5,0,19380,"",0,0],[83594,"Eastern equine encephalitis",0,8,[2],[3],5,0,5736,"",0,0],[83595,"Colorado tick fever",0,8,[2],[3],8,0,5708,"",0,0],[83597,"Acute disseminated encephalomyelitis",0,1,[2],[3],4,0,19383,"",0,0],[83600,"Encephalitis lethargica",0,8,[2],[6],8,0,19384,"",0,0],[83601,"Steroid-responsive encephalopathy associated with autoimmune thyroiditis",0,1,[2],[3],8,0,19385,"",0,0],[83616,"Rubella panencephalitis",0,8,[2],[2],5,0,19386,"",0,0],[83617,"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome",1,3,[0],[4,0,1],5,0,12508,"",0,0],[83619,"Macrostomia-preauricular tags-external ophthalmoplegia syndrome",1,3,[1],[0,1],5,0,19387,"",0,0],[83620,"Enteric anendocrinosis",0,12,[0],[0,1],5,1,12479,"NEUROG3",1,0],[83628,"LUMBAR syndrome",1,3,[4],[0,1],5,0,19388,"",0,0],[83629,"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome",0,1,[5],[1,2],5,1,10275,"AIFM1",1,0],[83639,"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency",0,4,[0],[0,1],5,2,12465,"PIGM PIGW",1,0],[83642,"Microcytic anemia with liver iron overload",0,4,[0],[0,1],5,1,8787,"SLC11A2",1,0],[84064,"Trichohepatoenteric syndrome",0,12,[0],[4,0,1],5,2,9105,"SKIC3 SKIC2",0,0],[84065,"Idiopathic malabsorption due to bile acid synthesis defects",0,12,[],[],8,0,19393,"",0,0],[84081,"Senior-Boichis syndrome",0,13,[0],[3],8,2,19394,"TMEM67 DCDC2",0,0],[84085,"Hinman syndrome",0,26,[],[3],8,0,19395,"",0,0],[84087,"Collagen type III glomerulopathy",0,13,[],[],8,0,19396,"",0,0],[84090,"Fibronectin glomerulopathy",0,13,[1],[3],5,1,7671,"FN1",0,0],[84093,"Hereditary thermosensitive neuropathy",0,1,[],[2,5,6],5,0,11197,"",0,0],[84132,"Desmin-related myopathy with Mallory body-like inclusions",0,1,[0],[0,1],5,1,19398,"SELENON",1,0],[84142,"Isaacs syndrome",0,1,[2],[3],5,0,19399,"",0,0],[85102,"Perineurioma",3,1,[],[],8,0,19404,"",0,0],[85110,"Familial encephalopathy with neuroserpin inclusion bodies",0,1,[1],[2,5,6],5,0,11412,"",1,0],[85112,"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome",0,3,[0],[2],5,1,12530,"RSPO1",1,0],[85128,"Bothnia retinal dystrophy",0,10,[0],[2],6,1,11838,"RLBP1",1,0],[85136,"Cystic leukoencephalopathy without megalencephaly",0,1,[0],[0,1],5,2,13058,"RNASET2 NDUFA2",1,0],[85138,"Addison disease",0,15,[2],[3],2,0,100480,"",0,0],[85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",0,1,[1],[6],5,1,8407,"DES",0,0],[85162,"Facial onset sensory and motor neuronopathy",0,1,[4],[6,7],5,0,19405,"",0,0],[85163,"Hypomyelination-congenital cataract syndrome",1,3,[0],[0,1],5,1,12514,"HYCC1",1,0],[85164,"Camptodactyly-tall stature-scoliosis-hearing loss syndrome",0,3,[1,0],[2],5,1,12504,"FGFR3",1,0],[85165,"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome",0,0,[1,2],[2],5,1,14658,"FGFR3",1,0],[85166,"Platyspondylic dysplasia, Torrance type",1,0,[1],[4,0,1],8,1,7895,"COL2A1",1,0],[85167,"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",0,0,[0],[8],5,1,12160,"PCYT1A",1,0],[85168,"Craniofacial conodysplasia",1,0,[1],[8],5,0,19406,"",0,0],[85169,"Familial digital arthropathy-brachydactyly",1,3,[1],[0,1],8,1,11732,"TRPV4",0,0],[85170,"Mesomelic dysplasia, Savarirayan type",1,0,[2],[0,1],8,0,11530,"",0,0],[85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",0,0,[0],[0],5,1,19407,"COG4",1,0],[85173,"IMAGe syndrome",1,3,[1,0],[0,1],5,2,13873,"CDKN1C POLE",1,0],[85174,"Pseudodiastrophic dysplasia",1,0,[0],[0,1],5,0,9914,"",0,0],[85175,"Astley-Kendall dysplasia",1,0,[0],[4,0],5,0,19408,"",0,0],[85179,"Infantile osteopetrosis with neuroaxonal dysplasia",1,0,[0],[0,1],8,1,10866,"BORCS5",0,0],[85182,"Diaphyseal medullary stenosis-bone malignancy syndrome",0,0,[1],[],8,1,7205,"MTAP",1,0],[85184,"Craniometadiaphyseal dysplasia, wormian bone type",1,0,[0],[0],5,0,10014,"",0,0],[85188,"Metaphyseal dysplasia, Braun-Tinschert type",1,0,[],[0,1],8,0,11620,"",0,0],[85191,"Singleton-Merten dysplasia",1,0,[1],[8],5,2,8429,"IFIH1 RIGI",0,0],[85192,"Calvarial doughnut lesions-bone fragility syndrome",1,0,[1],[2],5,0,7470,"",1,0],[85193,"Idiopathic juvenile osteoporosis",1,0,[3,2],[2,5],8,3,19409,"WNT3A DKK1 WNT1",1,0],[85194,"Spondylo-ocular syndrome",1,0,[0],[0,1],5,1,11604,"XYLT2",1,0],[85195,"Familial expansile osteolysis",0,0,[1],[2,5,6],8,1,8275,"TNFRSF11A",1,0],[85197,"Genochondromatosis type 1",0,0,[1],[2],8,0,19411,"",0,0],[85198,"Dysspondyloenchondromatosis",1,0,[1,2],[0,1],5,1,19412,"COL2A1",0,0],[85199,"Craniosynostosis-anal anomalies-porokeratosis syndrome",1,3,[0],[0,1],5,1,11287,"RNU12",1,0],[85201,"Genitopatellar syndrome",1,3,[1,0],[2],5,1,11640,"KAT6B",1,0],[85202,"Keutel syndrome",1,3,[0],[2],5,1,9495,"MGP",1,0],[85203,"Acropectoral syndrome",1,3,[1],[0,1],5,0,11621,"",0,0],[85212,"Fetal Gaucher disease",2,2,[0],[0,1],5,1,11945,"GBA1",1,0],[85273,"X-linked intellectual disability, Abidi type",1,3,[5],[2],5,0,10285,"",0,0],[85274,"Ahmad syndrome",1,3,[5],[8],5,0,10270,"",0,0],[85275,"Microphthalmia-ankyloblepharon-intellectual disability syndrome",1,3,[5],[0,1],8,0,10671,"",1,0],[85276,"X-linked intellectual disability, Armfield type",1,3,[5],[0,1],5,0,10284,"",1,0],[85277,"X-linked intellectual disability, Cantagrel type",1,3,[5],[0,1],5,1,10483,"NEXMIF",1,0],[85278,"Christianson syndrome",1,3,[5],[0,1],3,1,10278,"SLC9A6",1,0],[85279,"KDM5C-related syndromic X-linked intellectual disability",1,3,[5],[2],5,1,10355,"KDM5C",1,0],[85280,"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome",1,3,[5],[0,1],5,0,10332,"",0,0],[85282,"MEHMO syndrome",1,3,[5],[4,0,1],5,1,10258,"EIF2S3",1,0],[85284,"BRESEK syndrome",1,3,[7],[2],5,1,19414,"MBTPS2",0,0],[85285,"X-linked intellectual disability, Schimke type",1,3,[5],[0,1],5,0,10729,"",0,0],[85286,"X-linked intellectual disability, Shashi type",1,3,[5],[0,1],5,1,10277,"RBMX",1,0],[85287,"X-linked intellectual disability, Siderius type",1,3,[5],[0,1],5,1,10286,"PHF8",1,0],[85288,"X-linked intellectual disability, Stocco Dos Santos type",1,3,[5],[2],5,1,10325,"SHROOM4",0,0],[85290,"X-linked intellectual disability, Wilson type",1,3,[7,5],[2],5,0,10658,"",0,0],[85292,"X-linked spinocerebellar ataxia type 4",0,3,[5],[6],5,0,10534,"",0,0],[85293,"X-linked intellectual disability, Cabezas type",1,3,[5],[2],5,1,10306,"CUL4B",1,0],[85294,"X-linked epilepsy-learning disabilities-behavior disorders syndrome",0,3,[5],[2],8,1,10339,"SYN1",1,0],[85295,"HSD10 disease, atypical type",2,3,[7],[1,2],5,1,37149,"HSD17B10",0,0],[85297,"X-linked spinocerebellar ataxia type 3",1,3,[5],[2],5,0,10529,"",0,0],[85317,"X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome",1,3,[5],[2],5,0,19416,"",0,0],[85319,"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome",1,3,[5],[0,1],5,0,19418,"",0,0],[85320,"X-linked intellectual disability-macrocephaly-macroorchidism syndrome",1,3,[5],[0,1],5,0,19419,"",0,0],[85321,"Deafness-intellectual disability syndrome, Martin-Probst type",1,3,[5],[0,1],5,0,10353,"",0,0],[85322,"X-linked intellectual disability, Pai type",1,3,[5],[1,2],5,0,19420,"",0,0],[85323,"X-linked intellectual disability, Seemanova type",0,3,[5],[0,1],5,0,19421,"",0,0],[85324,"X-linked intellectual disability, Shrimpton type",1,3,[5],[0,1],5,0,10409,"",0,0],[85325,"X-linked intellectual disability, Stevenson type",1,3,[5],[2],5,0,19422,"",0,0],[85326,"X-linked intellectual disability, Stoll type",1,3,[5],[0,1],5,0,19423,"",0,0],[85327,"X-linked intellectual disability-acromegaly-hyperactivity syndrome",0,3,[5],[2],5,0,19424,"",0,0],[85329,"X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome",1,3,[5],[1,2],5,1,10574,"AP1S2",1,0],[85332,"X-linked intellectual disability-retinitis pigmentosa syndrome",0,3,[5],[4,0,1],8,0,10364,"",0,0],[85334,"X-linked neurodegenerative syndrome, Bertini type",0,3,[5],[0,1],5,0,19427,"",0,0],[85335,"Fried syndrome",1,3,[5],[0,1],5,1,19428,"AP1S2",0,0],[85336,"X-linked neurodegenerative syndrome, Hamel type",0,3,[5],[0,1],5,0,19429,"",0,0],[85338,"X-linked intellectual disability-ataxia-apraxia syndrome",0,3,[5],[2],5,0,19430,"",0,0],[85408,"Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis",0,14,[3],[2],8,7,19432,"IL2RA CD247 PTPN2 PTPN22 STAT4 ANKRD55 IL2RB",0,0],[85410,"Oligoarticular juvenile idiopathic arthritis",0,14,[3],[2],8,7,19433,"IL2RA CD247 PTPN2 PTPN22 STAT4 ANKRD55 IL2RB",0,0],[85414,"Systemic-onset juvenile idiopathic arthritis",0,14,[3,4],[2],3,4,19434,"HLA-DRB1 MIF IL6 LACC1",0,0],[85435,"Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis",0,14,[4],[2],8,0,19435,"",0,0],[85436,"Psoriasis-related juvenile idiopathic arthritis",0,14,[4],[2,5],6,0,19436,"",0,0],[85438,"Enthesitis-related juvenile idiopathic arthritis",0,14,[4],[2,5],8,0,19437,"",0,0],[85442,"Short stature-pituitary and cerebellar defects-small sella turcica syndrome",0,15,[1],[0,1],5,1,9880,"LHX4",1,0],[85443,"AL amyloidosis",0,14,[2],[6],3,0,19438,"",0,0],[85445,"AA amyloidosis",0,14,[2],[2,5,6],6,1,19439,"SAA1",0,0],[85446,"Wild type ABeta2M amyloidosis",0,14,[2],[6],3,0,19440,"",0,0],[85447,"ATTRV30M amyloidosis",2,1,[1],[6],1,1,100552,"TTR",0,0],[85448,"AGel amyloidosis",0,14,[1],[6],5,1,7097,"GSN",1,0],[85450,"Hereditary amyloidosis with primary renal involvement",0,13,[1],[3],8,0,7099,"",3,0],[85451,"ATTRV122I amyloidosis",2,7,[1],[6],8,1,19441,"TTR",0,0],[85453,"X-linked reticulate pigmentary disorder",0,5,[7],[2],7,1,10523,"POLA1",1,0],[85458,"Hereditary cerebral amyloid angiopathy",0,1,[1],[6],5,0,5620,"",0,0],[86309,"DPAGT1-CDG",0,2,[0],[0,1,2],5,1,11964,"DPAGT1",1,0],[86788,"X-linked severe congenital neutropenia",0,16,[5],[0,1],5,1,10294,"WAS",1,0],[86789,"Isolated patella aplasia/hypoplasia",6,3,[1],[0,1],5,0,8205,"",0,0],[86795,"Localized lichen myxedematosus",3,5,[],[],8,0,19446,"",0,0],[86797,"Atypical lichen myxedematosus",0,5,[],[5,6,7],5,0,19447,"",0,0],[86812,"POMT1-related limb-girdle muscular dystrophy R11",0,1,[0],[2],8,1,12248,"POMT1",0,0],[86813,"Helicoid peripapillary chorioretinal degeneration",0,10,[1],[0,1],5,1,7176,"TEAD1",1,0],[86814,"Familial adult myoclonic epilepsy",0,1,[1],[3],3,8,19448,"CTNND2 CNTN2 ADRA2B SAMD12 YEATS2 MARCHF6 RAPGEF2 TNRC6A",0,0],[86815,"Aplasia of lacrimal and salivary glands",0,10,[1],[],8,1,8397,"FGF10",0,0],[86816,"Congenital analbuminemia",0,4,[0],[4,0,1],5,1,14449,"ALB",1,0],[86817,"Hemolytic anemia due to adenylate kinase deficiency",0,4,[0],[0,1,2],5,1,12967,"AK1",1,0],[86818,"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome",0,3,[5],[4,0,1],5,3,10263,"ACSL4 AMMECR1 KCNE5",0,0],[86819,"Atrichia with papular lesions",0,5,[0],[],8,1,8847,"HR",1,0],[86820,"Familial avascular necrosis of femoral head",0,0,[1],[6],3,2,12126,"COL2A1 TRPV4",0,0],[86821,"Lissencephaly type 3-familial fetal akinesia sequence syndrome",1,3,[0],[4],5,0,19449,"",0,0],[86822,"Lissencephaly type 3-metacarpal bone dysplasia syndrome",1,3,[0],[4,0],5,0,11004,"",0,0],[86823,"Lissencephaly with cerebellar hypoplasia",3,3,[],[],8,0,19450,"",2,0],[86829,"Chronic neutrophilic leukemia",0,11,[2],[6],5,1,19451,"CSF3R",0,0],[86830,"Chronic myeloproliferative disease, unclassifiable",0,11,[],[6],4,1,19452,"PDGFRB",0,0],[86834,"Juvenile myelomonocytic leukemia",0,11,[2],[1,2],4,6,11908,"PTPN11 KRAS NF1 NRAS CBL RRAS",1,0],[86836,"Refractory cytopenia with multilineage dysplasia",3,11,[],[6],5,0,19453,"",0,0],[86839,"Myelodysplastic neoplasm with increased blasts",0,11,[2],[6],4,0,19454,"",0,0],[86841,"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality",0,11,[2],[6],5,1,7925,"RPS14",0,0],[86843,"Acute panmyelosis with myelofibrosis",0,11,[2],[6],5,0,19455,"",0,0],[86845,"Acute myeloid leukaemia with myelodysplasia-related features",0,11,[2],[6],5,5,19456,"IDH2 TET2 ASXL1 IDH1 DNMT3A",0,0],[86846,"Therapy related acute myeloid leukemia and myelodysplastic syndrome",4,11,[],[3],5,0,19457,"",0,0],[86849,"Acute basophilic leukemia",0,11,[],[3],5,2,19458,"GATA1 MYB",0,0],[86850,"Myeloid sarcoma",0,11,[2],[3],5,0,6861,"",0,0],[86851,"Acute leukemia of ambiguous lineage",4,11,[],[3],8,0,19460,"",0,0],[86852,"B-cell prolymphocytic leukemia",0,11,[],[6],5,0,19461,"",0,0],[86854,"Splenic marginal zone lymphoma",0,11,[2],[6],4,0,19462,"",0,0],[86855,"Plasmacytoma",0,11,[2],[6],4,0,5615,"",0,0],[86861,"Non-amyloid monoclonal immunoglobulin deposition disease",0,11,[],[6],8,0,19463,"",0,0],[86864,"Heavy chain disease",0,11,[],[6],5,0,19464,"",0,0],[86867,"Nodal marginal zone B-cell lymphoma",0,11,[2],[5,6,7],3,0,19465,"",0,0],[86869,"Lymphomatoid granulomatosis",0,11,[2],[6],6,0,19466,"",0,0],[86870,"Blastic plasmacytoid dendritic cell neoplasm",0,11,[2],[7],2,0,19467,"",0,0],[86871,"T-cell prolymphocytic leukemia",0,11,[2],[6,7],6,0,19468,"",0,0],[86872,"T-cell large granular lymphocyte leukemia",0,11,[2],[6],4,1,19469,"STAT3",0,0],[86873,"Aggressive NK-cell leukemia",0,11,[3,2],[6],8,0,19470,"",0,0],[86875,"Adult T-cell leukemia/lymphoma",0,11,[3,2],[6],3,0,19471,"",0,0],[86879,"Extranodal nasal NK/T cell lymphoma",0,11,[3,2],[6],3,0,19472,"",0,0],[86880,"Enteropathy-associated T-cell lymphoma",0,11,[2],[6],5,0,19473,"",0,0],[86882,"Hepatosplenic T-cell lymphoma",0,11,[2],[5,6],5,0,19474,"",0,0],[86884,"Subcutaneous panniculitis-like T-cell lymphoma",0,11,[2],[3],8,1,19475,"HAVCR2",1,0],[86885,"Primary cutaneous peripheral T-cell lymphoma not otherwise specified",0,11,[2],[6,7],8,0,19476,"",0,0],[86886,"Angioimmunoblastic T-cell lymphoma",0,11,[2],[6],5,0,4977,"",0,0],[86893,"Nodular lymphocyte predominant Hodgkin lymphoma",0,11,[4],[3],4,0,44778,"",0,0],[86896,"Histiocytic sarcoma",0,11,[],[6],5,0,19479,"",0,0],[86897,"Langerhans cell sarcoma",0,11,[],[3],8,0,19480,"",0,0],[86900,"Interdigitating dendritic cell sarcoma",0,11,[],[6],5,0,9975,"",0,0],[86902,"Follicular dendritic cell sarcoma",0,11,[],[3],5,0,5764,"",0,0],[86903,"Dendritic cell sarcoma not otherwise specified",0,11,[],[],8,0,4380,"",0,0],[86904,"Methotrexate-associated lymphoproliferative disorders",0,11,[],[],8,0,19483,"",0,0],[86906,"Gelastic seizures with hypothalamic hamartoma",0,1,[],[],8,0,19484,"",0,0],[86908,"Hemiconvulsion-hemiplegia-epilepsy syndrome",0,1,[],[],8,0,19485,"",0,0],[86909,"Myoclonic epilepsy of infancy",0,1,[0],[1],5,3,19486,"TBC1D24 SCN8A CPLX1",0,0],[86911,"Epilepsy with myoclonic absences",0,1,[3],[1,2,5],8,1,19487,"SLC2A1",0,0],[86914,"Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome",1,3,[],[5],8,0,7917,"",0,0],[86915,"Lymphedema-atrial septal defects-facial changes syndrome",1,3,[0],[0,1],5,0,11166,"",0,0],[86918,"Diffuse palmoplantar keratoderma-acrocyanosis syndrome",0,5,[1],[0,1],5,0,19489,"",0,0],[86919,"Keratosis palmaris et plantaris-clinodactyly syndrome",0,5,[1],[0],5,0,7857,"",0,0],[86920,"Dermatopathia pigmentosa reticularis",0,5,[1],[0,1],5,1,7445,"KRT14",1,0],[87277,"Rare intellectual disability",4,1,[],[],8,0,19491,"",0,0],[87503,"Mal de Meleda",0,5,[0],[1,2],3,1,9552,"SLURP1",1,0],[87876,"Sialidosis type 2",0,2,[0],[4,0,1,2],5,0,9738,"",1,0],[87884,"Rare non-syndromic genetic deafness",0,18,[1,0,5],[0,1],6,0,19497,"",63,0],[88616,"Autosomal recessive non-syndromic intellectual disability",7,1,[0],[1,2],8,54,19502,"PRSS12 CC2D1A TPR CRBN TUSC3 MED25 GRIK2 TRAPPC9 AIMP1 TECR WASHC4 MAN1B1 MED23 GRIN1 ZC3H14 NSUN2 CRADD B3GALNT2 LINS1 PGAP1 METTL23 CLIP1 FBXO31 NDST1 FMN2 EDC3 HNMT EZR CEP104 LMAN2L DCPS TNIK IQSEC1 KDM5B MBOAT7 FERRY3 SARS1 PIGC SLC45A1 FRRS1L RSRC1 GRIA1 ALKBH8 EEF1B2 TTC5 NCDN UBE4A NEMF GRM7 NAA20 IMPA1 ABCA2 GEMIN5 CHKA",0,0],[88618,"S-adenosylhomocysteine hydrolase deficiency",0,1,[0],[4,0,1,2,5,6],5,1,13404,"AHCY",1,0],[88619,"Familial acute necrotizing encephalopathy",0,1,[1],[1,2,5,6],5,1,11953,"RANBP2",1,0],[88620,"Isolated congenital anosmia",0,18,[1,5],[0,1],5,2,7137,"CNGA2 TENM1",0,0],[88621,"Ichthyosis-prematurity syndrome",0,5,[0],[0,1],5,1,12089,"SLC27A4",1,0],[88628,"Posterior column ataxia-retinitis pigmentosa syndrome",0,1,[0],[2],5,1,12177,"FLVCR1",1,0],[88629,"Tritanopia",0,10,[1],[0,1],8,1,8610,"OPN1SW",1,0],[88630,"Terminal osseous dysplasia-pigmentary defects syndrome",1,0,[7],[0,1],5,1,10279,"FLNA",1,0],[88632,"Anterior segment developmental anomaly",4,3,[1],[0],8,0,19503,"",2,0],[88633,"Superior limbic keratoconjunctivitis",0,10,[],[],8,0,19504,"",0,0],[88635,"Vacuolar myopathy with sarcoplasmic reticulum protein aggregates",0,1,[1,4],[6],5,1,14546,"CASQ1",1,0],[88637,"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome",2,1,[0],[1,2,5,6],5,3,19505,"POLR1C POLR3A POLR3B",0,0],[88639,"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency",0,1,[0],[1],5,1,9603,"HIBCH",1,0],[88642,"Congenital insensitivity to pain-anosmia-neuropathic arthropathy",0,1,[1,0],[0],5,3,9459,"SCN9A SCN10A SCN11A",1,0],[88643,"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome",0,15,[4],[0,1],5,0,19506,"",0,0],[88644,"Autosomal recessive ataxia, Beauce type",0,1,[0],[0,2,6],5,1,12549,"SYNE1",1,0],[88659,"Autosomal dominant progressive nephropathy with hypertension",0,13,[1],[6],5,0,8071,"",0,0],[88660,"Hypertension due to gain-of-function mutations in the mineralocorticoid receptor",0,13,[],[],8,0,11517,"",0,0],[88661,"Amelogenesis imperfecta",0,6,[1,0,7],[0,1],3,0,19507,"",2,0],[88673,"Hepatocellular carcinoma",3,11,[2],[3],2,0,7256,"",0,0],[88917,"X-linked Alport syndrome",2,13,[7],[2],3,1,10520,"COL4A5",1,0],[88918,"Autosomal dominant Alport syndrome",2,13,[1],[2],8,2,7086,"COL4A3 COL4A4",1,0],[88919,"Autosomal recessive Alport syndrome",2,13,[0],[2],8,2,8762,"COL4A3 COL4A4",2,0],[88924,"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis",0,3,[1],[1,2,5],5,2,10856,"PKD1 TSC2",0,0],[88938,"Pseudohypoaldosteronism type 2A",7,13,[],[],8,0,7772,"",0,0],[88939,"Pseudohypoaldosteronism type 2B",7,13,[1],[],8,1,13777,"WNK4",1,0],[88940,"Pseudohypoaldosteronism type 2C",7,13,[1],[],8,1,13778,"WNK1",1,0],[88949,"MUC1-related autosomal dominant tubulointerstitial kidney disease",2,13,[1],[6],5,1,20726,"MUC1",1,0],[88950,"UMOD-related autosomal dominant tubulointerstitial kidney disease",2,13,[1],[5,6],4,1,8073,"UMOD",1,0],[88991,"Rare congenital heart disease",4,3,[],[],0,0,19512,"",0,0],[88993,"Esophageal malformation",4,3,[],[],8,0,19513,"",0,0],[89043,"Rare dementia",4,1,[],[],8,0,19515,"",0,0],[89826,"Rare skin disease",4,-1,[],[],8,0,19519,"",0,0],[89838,"Autosomal recessive generalized epidermolysis bullosa simplex",0,5,[0],[0,1],5,2,10976,"KRT5 KRT14",1,0],[89842,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",0,5,[0],[0],8,1,19522,"COL7A1",0,0],[89843,"Dystrophic epidermolysis bullosa pruriginosa",0,5,[1,0],[2],6,1,11398,"COL7A1",1,0],[89844,"Lissencephaly syndrome, Norman-Roberts type",2,3,[0],[0,1],8,3,9760,"RELN NDE1 KATNB1",1,0],[89936,"X-linked hypophosphatemia",0,0,[7],[1,2],3,1,10619,"PHEX",1,0],[89937,"Autosomal dominant hypophosphatemic rickets",0,0,[1],[1,2,5,6],5,1,8660,"FGF23",1,0],[89938,"Bartter syndrome type 4",2,13,[0],[4],6,3,19524,"BSND CLCNKB CLCNKA",0,0],[90000,"Erythema elevatum diutinum",0,5,[4],[3],8,0,19526,"",0,0],[90001,"X-linked cone dysfunction syndrome with myopia",0,10,[5],[2],5,2,10446,"OPN1LW OPN1MW",0,0],[90002,"Undifferentiated connective tissue syndrome",0,14,[],[],8,0,19527,"",0,0],[90003,"Inflammatory pseudotumor of the liver",0,17,[2],[3],6,0,19528,"",0,0],[90020,"Parkinson-dementia complex of Guam",0,1,[],[],8,2,7104,"PARK7 TRPM7",0,0],[90021,"Radiation myelitis",0,1,[],[],8,0,19529,"",0,0],[90023,"Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency",0,16,[0],[0,1],5,1,12559,"LAMTOR2",1,0],[90024,"Deafness with labyrinthine aplasia, microtia, and microdontia",1,18,[0],[0,1],5,1,12541,"FGF3",1,0],[90025,"Non-syndromic syndactyly",4,3,[],[],8,0,19530,"",0,0],[90026,"Primary erythromelalgia",0,1,[1],[3],3,3,7571,"SCN9A SCN10A SCN11A",1,0],[90030,"Hemolytic anemia due to glutathione reductase deficiency",0,4,[0],[8],5,1,19531,"GSR",1,0],[90031,"Non-spherocytic hemolytic anemia due to hexokinase deficiency",0,4,[0],[1],5,1,9340,"HK1",1,0],[90033,"Autoimmune hemolytic anemia, warm type",0,4,[3],[3],3,0,19532,"",0,0],[90035,"Paroxysmal cold hemoglobinuria",0,4,[3],[2],8,0,19533,"",0,0],[90036,"Mixed-type autoimmune hemolytic anemia",0,4,[3],[3],8,0,19534,"",0,0],[90037,"Drug-induced autoimmune hemolytic anemia",0,4,[3],[3],8,0,19535,"",0,0],[90038,"Shiga toxin-associated hemolytic uremic syndrome",2,4,[2],[3],3,0,19536,"",0,0],[90039,"Hemoglobin D disease",0,4,[0],[2],8,1,19537,"HBB",0,0],[90042,"Primary familial and congenital erythrocytosis",0,4,[1],[3],8,1,7572,"EPOR",1,0],[90044,"Familial pseudohyperkalemia",0,4,[1],[3],6,1,12204,"ABCB6",0,0],[90045,"Hereditary folate malabsorption",0,4,[0],[0,1],5,1,9238,"SLC46A1",1,0],[90050,"Retinopathy of prematurity",0,10,[2],[0,1],8,3,6952,"FZD4 LRP5 NDP",0,0],[90051,"Sepsis in premature infants",5,14,[2],[0],2,0,0,"",0,0],[90052,"Recurrent hepatitis C virus induced liver disease in liver transplant recipients",5,17,[2],[3],3,0,0,"",0,0],[90053,"Complications after hematopoietic stem cell transplantation",5,30,[2],[3],4,0,0,"",0,0],[90056,"Moderate and severe traumatic brain injury",5,1,[2],[3],2,0,0,"",0,0],[90058,"Spinal cord injury",5,1,[2],[3],2,0,43797,"",0,0],[90059,"Sudden sensorineural hearing loss",5,18,[2],[3],2,0,43373,"",0,0],[90060,"Diffuse alveolar hemorrhage",9,9,[2],[1,2,5,6,7],3,0,19540,"",0,0],[90061,"Non-infectious posterior uveitis",4,10,[],[],2,0,19541,"",0,0],[90062,"Acute liver failure",9,17,[2],[1,2,5,6,7],2,0,19542,"",0,0],[90064,"Acute peripheral arterial occlusion",5,23,[2],[3],2,0,0,"",0,0],[90065,"Acquired aneurysmal subarachnoid hemorrhage",5,1,[2],[3],2,0,19543,"",0,0],[90066,"Pneumonia caused by Pseudomonas aeruginosa infection",5,9,[2],[3],2,0,37398,"",0,0],[90068,"Cocaine intoxication",0,27,[2],[3],3,0,19544,"",0,0],[90069,"Systemic monochloroacetate poisoning",0,27,[],[3],5,0,19545,"",0,0],[90073,"Hepatitis B reinfection following liver transplantation",5,17,[2],[3],3,0,0,"",0,0],[90076,"Partial deep dermal and full thickness burns",5,4,[2],[3],2,0,0,"",0,0],[90077,"Other acquired skin disease",4,5,[],[],8,0,19546,"",0,0],[90078,"Invasive infections due to vancomycin-resistant enterococci",5,8,[],[3],8,0,0,"",0,0],[90080,"Scarring in glaucoma filtration surgical procedures",5,10,[2],[3],2,0,0,"",0,0],[90081,"AIDS wasting syndrome",5,16,[2],[3],2,0,5797,"",0,0],[90103,"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome",1,1,[0],[1],5,0,8960,"",0,0],[90114,"Autosomal dominant intermediate Charcot-Marie-Tooth disease",3,1,[1],[2,5,6],6,0,19548,"",0,0],[90117,"Hereditary motor and sensory neuropathy, Okinawa type",0,1,[1],[6],6,1,11468,"TFG",1,0],[90118,"Severe early-onset axonal neuropathy due to MFN2 deficiency",0,1,[0],[2],8,1,19549,"MFN2",0,0],[90119,"Hereditary motor and sensory neuropathy with acrodystrophy",0,1,[0],[],8,0,19550,"",0,0],[90120,"Hereditary motor and sensory neuropathy type 6",0,1,[1,0],[3],5,2,19551,"MFN2 SLC25A46",0,0],[90153,"Mandibuloacral dysplasia with type A lipodystrophy",2,0,[0],[0,1],8,1,9557,"LMNA",1,0],[90154,"Mandibuloacral dysplasia with type B lipodystrophy",2,0,[0],[0,1],8,1,12074,"ZMPSTE24",1,0],[90156,"Centrifugal lipodystrophy",0,5,[],[1,2,5,6,7],5,0,19552,"",0,0],[90157,"Drug-induced localized lipodystrophy",0,5,[],[3],5,0,19553,"",0,0],[90158,"Idiopathic localized lipodystrophy",0,5,[],[1,2,5,6],8,0,19554,"",0,0],[90159,"Panniculitis-induced localized lipodystrophy",0,5,[],[3],6,0,19555,"",0,0],[90160,"Pressure-induced localized lipoatrophy",0,5,[],[6,7],8,0,19556,"",0,0],[90186,"Meige disease",0,3,[2],[2,5],6,1,7920,"EPHB4",0,0],[90280,"Chilblain lupus",0,5,[2],[1,2,5,6,7],5,0,19557,"",0,0],[90281,"Discoid lupus erythematosus",0,5,[],[2,5,6,7],2,0,19558,"",0,0],[90282,"Hypertrophic or verrucous lupus erythematosus",0,5,[],[],8,0,19559,"",0,0],[90283,"Lupus erythematosus tumidus",0,5,[],[2,5,6,7],6,0,19560,"",0,0],[90285,"Lupus erythematosus panniculitis",0,5,[],[1,2,5,6,7],4,0,19561,"",0,0],[90289,"Localized scleroderma",0,5,[2],[3],3,0,19562,"",0,0],[90291,"Systemic sclerosis",0,14,[3,2],[6],2,0,5100,"",0,0],[90301,"Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome",0,15,[],[6],5,0,8696,"",0,0],[90307,"Parkes Weber syndrome",0,3,[1,2],[0,1],6,1,20783,"RASA1",1,0],[90308,"Capillary-lymphatic-venous malformation with segmental distribution",0,3,[3,2],[0,1],5,2,7864,"PIK3CA AGGF1",0,0],[90321,"Cockayne syndrome type 1",2,3,[0],[4,0,1],8,3,19569,"ERCC4 ERCC6 ERCC8",1,0],[90322,"Cockayne syndrome type 2",2,3,[0],[4,0,1],8,3,19570,"ERCC6 ERCC8 ERCC1",1,0],[90324,"Cockayne syndrome type 3",2,3,[0],[4,0,1],8,2,8998,"ERCC6 ERCC8",0,0],[90340,"Blau syndrome",0,14,[1,2],[0,1],5,1,8523,"NOD2",1,0],[90342,"Xeroderma pigmentosum variant",0,5,[0],[5,6],5,1,10214,"POLH",1,0],[90348,"Autosomal dominant cutis laxa",0,5,[1],[0,1],5,3,19571,"ALDH18A1 ELN FBLN5",0,0],[90349,"Autosomal recessive cutis laxa type 1",0,5,[0],[0,1],5,3,19572,"EFEMP2 FBLN5 LTBP1",1,0],[90350,"Autosomal recessive cutis laxa type 2",3,5,[0],[0,1],5,0,19573,"",0,0],[90354,"Brittle cornea syndrome",0,14,[0],[0,1],5,2,9242,"ZNF469 PRDM5",1,0],[90362,"Primary intestinal lymphangiectasia",0,12,[],[3],8,0,7916,"",0,0],[90363,"Secondary intestinal lymphangiectasia",0,12,[],[6,7],8,0,19574,"",0,0],[90368,"Hypotrichosis simplex of the scalp",0,5,[1],[2],8,2,19575,"CDSN KRT74",0,0],[90389,"Telangiectasia macularis eruptiva perstans",2,5,[4],[],8,1,19576,"KIT",0,0],[90390,"Anonychia-onychodystrophy syndrome",2,5,[1,0],[],5,0,19577,"",0,0],[90393,"Nodular lichen myxedematosus",0,5,[],[],8,0,19578,"",0,0],[90394,"Discrete papular lichen myxedematosus",0,5,[],[],8,0,19579,"",0,0],[90395,"Papular mucinosis of infancy",0,5,[],[],5,0,19580,"",0,0],[90396,"Acral persistent papular mucinosis",0,5,[],[],5,0,19581,"",0,0],[90397,"Self-healing papular mucinosis",0,5,[],[3],5,0,19582,"",0,0],[90398,"Localized lichen myxedematosus with mixed features of different subtypes",2,5,[],[6,7],5,0,19583,"",0,0],[90399,"Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms",2,5,[],[6,7],5,0,19584,"",0,0],[90400,"Scleromyxedema without monoclonal gammopathy",2,5,[],[5,6,7],5,0,19585,"",0,0],[90625,"X-linked non-syndromic genetic deafness",7,18,[5],[1,2],8,3,19586,"PRPS1 COL4A6 SMPX",0,0],[90635,"Autosomal dominant non-syndromic genetic deafness",7,18,[1],[2],8,51,19587,"ESPN POU4F3 SIX1 TECTA TMC1 WFS1 COCH COL11A1 COL11A2 GSDME EYA4 GJB2 GJB3 GJB6 KCNQ4 MYH14 MYH9 MYO6 MYO7A CCDC50 GRHL2 MYO1A CRYM ACTG1 SLC17A8 MIR96 KITLG PTPRQ TBC1D24 TJP2 CEACAM16 DIABLO DIAPH3 P2RX2 ATP11A TNC MYO1C OSBPL2 HOMER2 DMXL2 MCM2 CD164 ABCC1 SLC44A4 SSBP1 TRRAP PDE1C MAP1B PLS1 USP48 CENPP",6,0],[90636,"Autosomal recessive non-syndromic genetic deafness",7,18,[0],[0,1],8,76,19588,"PDZD7 SLC26A4 BSND CDH23 TECTA TMC1 TMIE TMPRSS3 USH1C COL11A2 GJA1 GJB2 GJB3 GJB6 MET MYO15A MYO6 MYO7A OTOF PCDH15 WHRN STRC TRIOBP RDX LHFPL5 ESPN ESRRB MARVELD2 MYO3A SLC26A5 OTOA PJVK CLDN14 LRTOMT HGF LOXHD1 GRXCR1 TPRN PTPRQ SERPINB6 TBC1D24 GPSM2 MSRB3 ILDR1 CEACAM16 KARS1 GIPC3 CIB2 CABP2 OTOG PNPT1 OTOGL SYNE4 SLITRK6 ELMOD3 GRXCR2 EPS8 ADCY1 CLIC5 RIPOR2 DCDC2 ATP2B2 NARS2 S1PR2 CDC14A BDP1 ROR1 WBP2 EPS8L2 MPZL2 PPIP5K2 TMEM132E GRAP MINAR2 AFG2B TMTC4",3,0],[90641,"Mitochondrial non-syndromic sensorineural deafness",7,18,[6],[1,2],8,8,10779,"POU3F4 TFB1M TRMU MT-CO1 MT-ND4 MT-RNR1 MT-TH MT-TS1",0,0],[90642,"Rare syndromic genetic deafness",4,18,[],[],8,0,19589,"",0,0],[90646,"Deafness-hypogonadism syndrome",1,18,[],[0,1],5,0,10575,"",0,0],[90647,"Jervell and Lange-Nielsen syndrome",0,7,[0],[0],4,2,2441,"KCNE1 KCNQ1",1,0],[90650,"Otopalatodigital syndrome type 1",1,0,[7],[4,0,1],4,1,10704,"FLNA",0,0],[90652,"Otopalatodigital syndrome type 2",1,0,[7],[4,0],5,1,10571,"FLNA",1,0],[90653,"Stickler syndrome type 1",2,0,[1],[0,1,2],8,1,7160,"COL2A1",1,0],[90654,"Stickler syndrome type 2",2,0,[1],[0,1,2],8,2,11493,"BMP4 COL11A1",1,0],[90658,"Charcot-Marie-Tooth disease type 1E",0,1,[1],[1,2],6,1,7311,"PMP22",1,0],[90673,"Hypothyroidism due to TSH receptor mutations",0,15,[1,0],[0,1],8,1,10142,"TSHR",1,0],[90674,"Isolated thyroid-stimulating hormone deficiency",0,15,[0],[0,1],8,1,10139,"TSHB",1,0],[90692,"Rare endocrine growth disease",4,15,[],[],8,0,19590,"",0,0],[90695,"Non-acquired panhypopituitarism",0,15,[0,5],[3],5,2,19591,"PROP1 SOX3",0,0],[90771,"Difference of sex development",4,3,[],[],8,0,2145,"",1,0],[90776,"46,XX difference of sex development induced by fetal androgens excess",4,3,[],[],8,0,19593,"",0,0],[90783,"46,XY difference of sex development due to a testosterone synthesis defect",4,3,[],[],8,0,19594,"",0,0],[90786,"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect",4,3,[],[],8,0,19595,"",0,0],[90787,"46,XY difference of sex development due to testicular steroidogenesis defect",4,3,[],[],8,0,19596,"",0,0],[90790,"Congenital lipoid adrenal hyperplasia due to STAR deficency",0,3,[0],[0,1,2],8,0,8725,"",1,0],[90791,"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency",0,3,[0],[0,1],5,1,8727,"HSD3B2",1,0],[90793,"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency",0,3,[0],[0,1],4,1,8730,"CYP17A1",1,0],[90794,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",0,3,[0],[4,0,1,2,5,6],3,0,8728,"",1,0],[90795,"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency",0,3,[0],[0,1],4,1,8729,"CYP11B1",1,0],[90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",0,3,[0],[0],5,2,19597,"CYB5A CYP17A1",0,0],[90797,"Partial androgen insensitivity syndrome",0,3,[5],[3],8,1,10720,"AR",1,0],[90970,"Primary lipodystrophy",4,15,[],[3],4,0,19599,"",0,0],[91024,"Autosomal recessive axonal hereditary motor and sensory neuropathy",3,1,[0],[],8,0,19601,"",0,0],[91088,"Other metabolic disease",4,2,[],[],8,0,19602,"",0,0],[91127,"Adenovirus infection in immunocompromised patients",5,8,[2],[3],2,0,0,"",0,0],[91130,"Cardiomyopathy-hypotonia-lactic acidosis syndrome",0,2,[0],[0],5,1,12557,"SLC25A3",1,0],[91131,"DK1-CDG",0,2,[0],[0,1],5,1,12556,"DOLK",1,0],[91132,"Ichthyosis-hypotrichosis syndrome",0,5,[0],[0,1],5,1,11218,"ST14",1,0],[91135,"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency",0,5,[0,4],[2,5],5,1,12570,"GGCX",1,0],[91136,"Acquired monoclonal Ig light chain-associated Fanconi syndrome",0,13,[2],[6,7],5,0,19604,"",0,0],[91137,"Immunotactoid or fibrillary glomerulopathy",3,13,[2],[6],8,0,19605,"",0,0],[91138,"Cryoglobulinemic vasculitis",0,14,[2],[3],3,0,7407,"",0,0],[91139,"Simple cryoglobulinemia",0,4,[],[6,7],8,0,19606,"",0,0],[91140,"Unspecified juvenile idiopathic arthritis",0,14,[],[1,2],6,0,19607,"",0,0],[91144,"46,XX difference of sex development induced by maternal-derived androgen",4,3,[],[],8,0,19608,"",0,0],[91347,"TSH-secreting pituitary adenoma",0,15,[],[2,5,6,7],4,1,19611,"CDH23",0,0],[91348,"Functioning gonadotropic adenoma",0,15,[],[6],8,0,19612,"",0,0],[91349,"Non-functioning pituitary adenoma",0,15,[2],[2,5,6],3,0,19613,"",0,0],[91350,"Pituitary deficiency due to Rathke cleft cysts",0,15,[],[3],6,0,19614,"",0,0],[91351,"Pituitary dermoid and epidermoid cysts",0,15,[],[6,7],8,0,19615,"",0,0],[91352,"Germinoma of the central nervous system",2,11,[2],[2,5,6],8,1,4216,"JMJD1C",0,0],[91354,"Pituitary deficiency due to empty sella turcica syndrome",0,15,[],[6,7],8,0,19617,"",0,0],[91355,"Sheehan syndrome",1,15,[],[6],6,0,19618,"",0,0],[91357,"Duplication of the esophagus",3,3,[],[],8,0,19619,"",0,0],[91358,"Congenital esophageal diverticulum",6,3,[],[],8,0,19620,"",0,0],[91359,"Chronic pneumonitis of infancy",0,9,[2],[0,1],8,0,19621,"",0,0],[91364,"Non-specific interstitial pneumonia",0,9,[],[],8,0,19622,"",0,0],[91378,"Hereditary angioedema",3,14,[1],[3],3,0,19623,"",0,0],[91385,"Acquired angioedema",3,14,[2],[6],4,0,19624,"",0,0],[91387,"Familial thoracic aortic aneurysm and aortic dissection",0,3,[1],[2,5,6],7,20,19625,"SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2 EFEMP2 ELN FBN1 FOXE3 MYH11 ACTA2 MYLK SMAD3 PRKG1 MFAP5 LOX HEY2 SMAD2 MAT2A THSD4",9,0],[91396,"Isolated cryptophthalmia",6,3,[1,0],[4,0],5,0,7410,"",0,0],[91397,"Isolated ankyloblepharon filiforme adnatum",6,3,[1,2],[0,1],8,0,19626,"",0,0],[91411,"Congenital ptosis",0,10,[1,5],[0,1],8,2,8340,"COL25A1 ZFHX4",0,0],[91412,"Marcus-Gunn syndrome",0,10,[1],[0,1],8,0,7946,"",0,0],[91413,"Congenital Horner syndrome",0,10,[],[],8,0,7735,"",0,0],[91414,"Pilomatrixoma",0,5,[2],[2,5,6],8,1,7564,"CTNNB1",0,0],[91416,"Isolated congenital alacrima",0,3,[1,0],[0,1],8,0,19627,"",0,0],[91481,"Ring dermoid of cornea",0,10,[1],[0,1],5,1,8387,"PITX2",1,0],[91483,"Rieger anomaly",6,3,[1],[0],8,2,19628,"PITX2 FOXC1",0,0],[91489,"Isolated congenital megalocornea",6,3,[5],[],8,1,10649,"CHRDL1",1,0],[91490,"Isolated congenital sclerocornea",6,3,[1],[],8,1,19629,"GJA8",0,0],[91491,"Congenital ectropion uveae",1,3,[],[0],5,0,19630,"",0,0],[91492,"Early onset non-syndromic cataract",0,10,[1,0,5],[0,1],8,0,11060,"",2,0],[91494,"Macular coloboma-cleft palate-hallux valgus syndrome",1,3,[0],[0],5,0,9001,"",0,0],[91495,"Persistent hyperplastic primary vitreous",0,10,[1,0],[0,1],8,3,19631,"FZD4 NDP ATOH7",0,0],[91496,"Snowflake vitreoretinal degeneration",0,10,[1],[6],5,1,8663,"KCNJ13",1,0],[91498,"Familial congenital palsy of trochlear nerve",0,10,[],[0],5,0,7626,"",0,0],[91500,"Tubulointerstitial nephritis and uveitis syndrome",0,13,[3],[2,5,6,7],6,0,11885,"",0,0],[91546,"Lyme disease",0,8,[2],[3],0,0,19632,"",0,0],[91547,"Relapsing fever",0,8,[2],[3],8,0,19633,"",0,0],[92050,"Congenital tufting enteropathy",0,12,[0],[0,1],4,1,13184,"EPCAM",1,0],[93100,"Renal agenesis, unilateral",2,3,[1],[4,3],2,8,19636,"RET FRAS1 FREM2 BMP4 FREM1 UPK3A DSTYK GREB1L",0,0],[93101,"Renal hypoplasia",6,3,[1,2],[3],6,0,19637,"",0,0],[93108,"Renal dysplasia",6,3,[1,2],[4,3],2,0,19638,"",0,0],[93109,"Congenital megacalycosis",6,3,[4],[3],5,0,19639,"",0,0],[93110,"Posterior urethral valve",6,3,[0,2,5],[3],3,1,19640,"BNC2",0,0],[93111,"HNF1B-related autosomal dominant tubulointerstitial kidney disease",2,15,[1],[4,0,1,2,5,6],6,1,7669,"HNF1B",1,0],[93114,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type E",0,1,[1,2],[8],5,1,13758,"INF2",1,0],[93126,"Pauci-immune glomerulonephritis",0,13,[2],[2,5,6,7],6,0,19641,"",0,0],[93160,"Hypocalcemic vitamin D-resistant rickets",0,0,[0],[0,1],8,1,19642,"VDR",0,0],[93164,"Transient pseudohypoaldosteronism",0,13,[2],[1],6,0,19643,"",0,0],[93172,"Renal dysplasia, unilateral",2,3,[1,2],[3],2,1,19644,"HNF1B",0,0],[93173,"Renal dysplasia, bilateral",2,3,[1,2],[3],6,1,19645,"HNF1B",0,0],[93176,"Unilateral congenital megacalycosis",2,3,[],[],8,0,19646,"",0,0],[93177,"Congenital bilateral megacalycosis",2,3,[],[],8,0,19647,"",0,0],[93256,"Fragile X-associated tremor/ataxia syndrome",1,1,[7],[6],3,1,10382,"FMR1",1,0],[93258,"Pfeiffer syndrome type 1",2,3,[1,2],[4,0],6,2,19659,"FGFR1 FGFR2",1,0],[93259,"Pfeiffer syndrome type 2",2,3,[1,2],[4,0],6,1,19660,"FGFR2",0,0],[93260,"Pfeiffer syndrome type 3",2,3,[1,2],[4,0],6,1,19661,"FGFR2",0,0],[93262,"Crouzon syndrome-acanthosis nigricans syndrome",1,3,[1,2],[4,0],4,1,12833,"FGFR3",1,0],[93267,"Cloverleaf skull-multiple congenital anomalies syndrome",1,3,[0],[4,0],5,0,11788,"",0,0],[93268,"Short rib-polydactyly syndrome, Beemer-Langer type",1,0,[0],[4,0],5,2,10024,"IFT80 IFT122",0,0],[93269,"Short rib-polydactyly syndrome, Majewski type",1,0,[0],[4,0],5,3,19662,"DYNC2H1 NEK1 IFT54",0,0],[93270,"Short rib-polydactyly syndrome, Saldino-Noonan type",1,0,[0],[0],5,1,13127,"DYNC2H1",1,0],[93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",1,0,[0],[4,0],5,5,13127,"IFT80 DYNC2H1 WDR35 DYNC2I1 DYNC2I2",1,0],[93274,"Thanatophoric dysplasia type 2",2,0,[1,2],[0,1],8,1,8547,"FGFR3",1,0],[93276,"Polyostotic fibrous dysplasia",2,0,[4],[],8,1,8274,"GNAS",0,0],[93277,"Monostotic fibrous dysplasia",2,0,[2],[],8,1,19665,"GNAS",0,0],[93279,"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis",0,0,[1],[2,5,6],5,1,11496,"COL2A1",1,0],[93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",0,0,[0],[0,1],5,1,19666,"PAPSS2",1,0],[93283,"Spondyloepiphyseal dysplasia, Kimberley type",0,0,[1],[0,1],5,1,12019,"ACAN",1,0],[93284,"Spondyloepiphyseal dysplasia tarda",0,0,[1,0,5],[2,5,6],8,1,19667,"TRAPPC2",0,0],[93292,"Adenoma of pancreas",0,11,[],[6,7],6,0,19668,"",0,0],[93293,"Okihiro syndrome",1,3,[1],[0],5,0,11812,"",1,0],[93296,"Achondrogenesis type 2",2,0,[1],[4,0],8,1,8702,"COL2A1",1,0],[93297,"Hypochondrogenesis",2,0,[1],[0,1],8,1,19669,"COL2A1",0,0],[93298,"Achondrogenesis type 1B",2,0,[0],[4,0],6,1,10966,"SLC26A2",1,0],[93299,"Achondrogenesis type 1A",2,0,[0],[4,0],8,1,8701,"TRIP11",1,0],[93302,"Brachyolmia, Maroteaux type",1,0,[0],[2],5,0,13360,"",0,0],[93304,"Autosomal dominant brachyolmia",1,0,[1],[2],5,1,7232,"TRPV4",1,0],[93307,"Multiple epiphyseal dysplasia type 4",0,0,[0],[2],6,1,9189,"SLC26A2",1,0],[93308,"Multiple epiphyseal dysplasia type 1",0,0,[1],[2],6,1,7561,"COMP",1,0],[93311,"Multiple epiphyseal dysplasia type 5",0,0,[1],[2],5,1,11765,"MATN3",1,0],[93314,"Spondylometaphyseal dysplasia, Kozlowski type",0,0,[1],[1],5,1,8477,"TRPV4",1,0],[93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",0,0,[1],[0,1,2],5,2,8479,"COL2A1 FN1",1,0],[93316,"Spondylometaphyseal dysplasia, Schmidt type",0,0,[1],[1,2,5],5,1,8478,"COL2A1",0,0],[93317,"Spondylometaphyseal dysplasia, Sedaghatian type",1,0,[0],[4,0],5,1,9593,"GPX4",1,0],[93320,"Isolated ulnar hemimelia",6,3,[],[0,1],8,0,19670,"",0,0],[93321,"Isolated radial hemimelia",6,3,[3,5],[4,0,1],3,2,19671,"SHH LMBR1",0,0],[93322,"Isolated tibial hemimelia",6,3,[1,0,2],[4,0,1],4,1,10144,"GLI3",0,0],[93323,"Isolated fibular hemimelia",6,3,[2],[4],3,0,19672,"",0,0],[93324,"Autosomal recessive Kenny-Caffey syndrome",7,0,[0],[2],8,1,9486,"TBCE",1,0],[93325,"Autosomal dominant Kenny-Caffey syndrome",7,0,[1],[2],8,1,7478,"FAM111A",1,0],[93328,"Autosomal dominant omodysplasia",2,0,[1],[0,1],8,1,8123,"FZD2",1,0],[93329,"Autosomal recessive omodysplasia",2,0,[0],[0,1],5,1,9779,"GPC6",1,0],[93333,"Pelviscapular dysplasia",1,3,[0],[0,1],5,1,9845,"TBX15",1,0],[93334,"Postaxial polydactyly type A",6,3,[0],[4],2,6,19673,"GLI3 ZNF141 IQCE GLI1 CIBAR1 KIAA0825",0,0],[93335,"Postaxial polydactyly type B",6,3,[1],[4],2,2,19674,"GLI3 GLI1",0,0],[93336,"Polydactyly of a triphalangeal thumb",6,3,[1],[4],3,2,8270,"SHH LMBR1",2,0],[93337,"Polydactyly of an index finger",6,3,[1],[0,1],8,0,8271,"",0,0],[93338,"Polysyndactyly",6,3,[1],[0,1],5,1,8272,"GLI3",1,0],[93339,"Polydactyly of a biphalangeal thumb and/or hallux",6,3,[1],[0,1],8,1,8269,"GLI1",1,0],[93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",0,0,[1],[0,1],5,1,8476,"COL2A1",1,0],[93347,"Anauxetic dysplasia",0,0,[0],[4,0],5,3,11773,"RMRP POP1 RMP64",0,0],[93349,"X-linked spondyloepimetaphyseal dysplasia",0,0,[5],[],5,1,10248,"BGN",1,0],[93351,"Spondyloepimetaphyseal dysplasia, Irapa type",0,0,[0],[2],5,0,10076,"",0,0],[93352,"Spondyloepimetaphyseal dysplasia, Shohat type",0,0,[0],[4,0,1],5,1,11252,"DDRGK1",1,0],[93356,"Spondyloepimetaphyseal dysplasia, Missouri type",0,0,[1],[1,2],5,1,11198,"MMP13",1,0],[93357,"SPONASTRIME dysplasia",0,0,[0],[0,1],5,1,10068,"TONSL",1,0],[93358,"Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome",0,0,[0],[0,1],5,1,10077,"DDR2",1,0],[93360,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",0,0,[1],[0,1],8,1,11335,"KIF22",1,0],[93372,"Familial hypocalciuric hypercalcemia type 1",7,15,[1],[3],3,1,7791,"CASR",1,0],[93382,"Brachydactyly type A6",1,3,[1],[0,1],5,0,7219,"",0,0],[93383,"Brachydactyly type B",1,3,[1],[4],5,0,19676,"",0,0],[93384,"Brachydactyly type C",1,3,[1,0],[0,1],8,2,7221,"BMPR1B GDF5",1,0],[93387,"Brachydactyly type E",1,3,[1],[4],8,2,19677,"HOXD13 PTHLH",0,0],[93388,"Brachydactyly type A1",1,3,[1],[0,1],6,3,7215,"BMPR1B GDF5 IHH",1,0],[93394,"Brachydactyly type A4",1,3,[1],[0,1],6,0,7218,"",0,0],[93396,"Brachydactyly type A2",1,3,[1],[0,1],6,3,7216,"BMPR1B GDF5 BMP2",2,0],[93397,"Brachydactyly type A7",1,3,[],[0,1],5,0,19679,"",0,0],[93398,"Genochondromatosis type 2",0,0,[],[2],5,0,19680,"",0,0],[93399,"Juvenile sialidosis type 2",2,2,[0],[5],8,1,19681,"NEU1",0,0],[93400,"Congenital sialidosis type 2",2,2,[0],[0,1],8,1,19682,"NEU1",0,0],[93402,"Syndactyly type 1",6,3,[1],[4,0,1],2,0,8512,"",0,0],[93403,"Syndactyly type 2",6,3,[1],[0,1],8,0,21651,"",0,0],[93404,"Syndactyly type 3",6,3,[1],[0,1],8,1,8514,"GJA1",0,0],[93405,"Syndactyly type 4",6,3,[1],[0,1],5,2,8515,"SHH LMBR1",1,0],[93406,"Syndactyly type 5",6,3,[1],[0,1],5,1,8516,"HOXD13",1,0],[93409,"Brachydactyly-syndactyly, Zhao type",1,3,[1],[0,1],5,1,12544,"HOXD13",1,0],[93419,"Rare bone disease",4,-1,[],[],8,0,19684,"",0,0],[93420,"FGFR3-related chondrodysplasia",4,0,[],[],3,0,19685,"",0,0],[93421,"Type 2 collagen-related bone disorder",4,0,[],[],8,0,22800,"",0,0],[93422,"Type 11 collagen-related bone disorder",4,0,[],[],8,0,800087,"",0,0],[93423,"Sulfation-related bone disorder",4,0,[],[],8,0,19688,"",1,0],[93425,"Filamin-related bone disorder",4,0,[],[],8,0,19690,"",1,0],[93426,"Ciliopathies with major skeletal involvement",4,0,[],[],8,0,19691,"",0,0],[93429,"Multiple epiphyseal dysplasia and pseudoachondroplasia",4,0,[],[],8,0,19692,"",0,0],[93430,"Multiple metaphyseal dysplasia",3,0,[],[],8,0,19693,"",0,0],[93434,"Spondylodysplastic dysplasia",3,0,[],[],8,0,19694,"",0,0],[93436,"Acromelic dysplasia",3,0,[],[],8,0,19695,"",1,0],[93437,"Acromesomelic dysplasia",3,0,[],[],8,0,19696,"",0,0],[93438,"Mesomelic and rhizo-mesomelic dysplasia",3,0,[],[],8,0,19697,"",0,0],[93439,"Campomelic dysplasia and related disorders",3,0,[],[],8,0,19698,"",0,0],[93440,"Slender bone dysplasia",3,0,[],[],8,0,19699,"",0,0],[93441,"Primary bone dysplasia with multiple joint dislocations",3,0,[],[],8,0,800086,"",0,0],[93442,"Chondrodysplasia punctata",3,0,[],[],8,0,19701,"",0,0],[93443,"Neonatal osteosclerotic dysplasia",3,0,[],[],8,0,19702,"",0,0],[93444,"Primary bone dysplasia with increased bone density",4,0,[],[],8,0,800084,"",0,0],[93446,"Primary bone dysplasia with decreased bone density",4,0,[],[],8,0,19704,"",0,0],[93447,"Primary bone dysplasia with defective bone mineralization",4,0,[],[],8,0,19705,"",0,0],[93448,"Lysosomal storage disease with skeletal involvement",4,0,[],[],8,0,800088,"",0,0],[93449,"Primary osteolysis",4,0,[],[],8,0,19707,"",0,0],[93450,"Primary bone dysplasia with disorganized development of skeletal components",4,0,[],[],8,0,800089,"",0,0],[93451,"Cleidocranial dysplasia and isolated cranial ossification defect",4,0,[],[],8,0,19709,"",0,0],[93453,"Dysostosis with predominant craniofacial involvement",4,3,[],[],8,0,800085,"",1,0],[93454,"Dysostosis with predominant vertebral and costal involvement",4,3,[],[],8,0,19711,"",0,0],[93455,"Patellar dysostosis",4,3,[],[],8,0,19712,"",0,0],[93457,"Non-syndromic limb reduction defect",4,3,[],[],8,0,19713,"",0,0],[93458,"Non-syndromic polydactyly, syndactyly and/or hyperphalangy",4,3,[],[],8,0,19714,"",0,0],[93459,"Syndrome with synostosis or other joint formation defect",4,3,[],[],8,0,800095,"",0,0],[93460,"Overgrowth syndrome",4,3,[],[],8,0,19716,"",0,0],[93461,"Chromosomal disease with overgrowth",4,3,[],[],8,0,19717,"",0,0],[93465,"Lethal chondrodysplasia",4,0,[],[],8,0,19718,"",0,0],[93473,"Hurler syndrome",2,2,[0],[0,1],4,1,11758,"IDUA",1,0],[93474,"Scheie syndrome",2,2,[0],[2,5,6],4,1,11760,"IDUA",1,0],[93476,"Hurler-Scheie syndrome",2,2,[0],[0,1],4,1,11759,"IDUA",1,0],[93545,"Renal or urinary tract malformation",4,3,[],[],8,0,19719,"",7,0],[93546,"Non-syndromic renal or urinary tract malformation",4,3,[],[],8,0,19720,"",1,0],[93547,"Syndromic renal or urinary tract malformation",4,3,[],[],8,0,19721,"",0,0],[93548,"Glomerular disease",4,13,[],[],8,0,19722,"",0,0],[93552,"Pediatric systemic lupus erythematosus",0,14,[2],[0,1,2,5],3,4,19725,"STAT4 SPP1 IRAK1 SAT1",0,0],[93554,"Mixed cryoglobulinemia type II",7,14,[],[3],8,0,19726,"",0,0],[93555,"Mixed cryoglobulinemia type III",7,14,[],[3],8,0,19727,"",0,0],[93556,"Heavy chain deposition disease",2,11,[],[],8,0,19728,"",0,0],[93557,"Light and heavy chain deposition disease",2,11,[],[],8,0,19729,"",0,0],[93558,"Light chain deposition disease",2,11,[],[],8,0,19730,"",0,0],[93560,"AApoAI amyloidosis",2,13,[1],[],8,1,19731,"APOA1",0,0],[93561,"ALys amyloidosis",2,13,[1],[],5,1,19732,"LYZ",0,0],[93562,"AFib amyloidosis",2,13,[1],[],8,1,19733,"FGA",0,0],[93568,"Juvenile polymyositis",0,14,[],[2,5],5,0,19734,"",0,0],[93571,"Dense deposit disease",10,13,[0],[2],4,3,19736,"CFH CFHR1 CFHR5",0,0],[93573,"Thrombotic microangiopathy",3,13,[],[],8,0,19737,"",0,0],[93581,"Atypical hemolytic uremic syndrome with anti-factor H antibodies",7,13,[],[],8,0,19739,"",0,0],[93583,"Congenital thrombotic thrombocytopenic purpura",2,4,[0],[0,1,2,6],5,1,10122,"ADAMTS13",1,0],[93585,"Immune-mediated thrombotic thrombocytopenic purpura",2,4,[3],[3],4,0,19740,"",0,0],[93587,"Genetic cystic renal disease",4,13,[],[],8,0,19741,"",0,0],[93589,"Late-onset nephronophthisis",2,13,[0],[],8,3,19742,"NPHP3 XPNPEP3 MAPKBP1",0,0],[93591,"Infantile nephronophthisis",2,13,[0],[4,0,1,2],6,7,11190,"INVS NPHP3 NEK8 TTC21B ZNF423 ANKS6 CEP83",1,0],[93592,"Juvenile nephronophthisis",2,13,[0],[],8,7,9728,"NPHP1 NPHP4 GLIS2 WDR19 ANKS6 MAPKBP1 ADAMTS9",1,0],[93593,"Nephropathy secondary to a storage or other metabolic disease",4,13,[],[],8,0,19743,"",0,0],[93598,"Primary hyperoxaluria type 1",2,13,[0],[3],4,1,9823,"AGXT",1,0],[93599,"Primary hyperoxaluria type 2",2,13,[0],[2],7,1,9824,"GRHPR",1,0],[93600,"Primary hyperoxaluria type 3",2,13,[0],[1,2],7,1,13327,"HOGA1",1,0],[93601,"Xanthinuria type I",7,13,[0],[],8,1,10209,"XDH",1,0],[93602,"Xanthinuria type II",7,13,[0],[],8,1,11346,"MOCOS",1,0],[93603,"Rare renal tubular disease",4,13,[],[],8,0,19744,"",0,0],[93605,"Bartter syndrome type 3",2,13,[0],[1,2,5,6],6,1,11822,"CLCNKB",1,0],[93606,"Nephrogenic syndrome of inappropriate antidiuresis",0,13,[5],[2],5,1,10356,"AVPR2",1,0],[93607,"Autosomal recessive proximal renal tubular acidosis",2,13,[0],[2],8,1,11422,"SLC4A4",1,0],[93608,"Autosomal dominant distal renal tubular acidosis",2,13,[1],[5,6],8,1,8368,"SLC4A1",3,0],[93610,"Distal renal tubular acidosis with anemia",2,13,[1],[0,1],8,1,12700,"SLC4A1",1,0],[93612,"Cystinuria type A",7,13,[0],[],8,1,19745,"SLC3A1",0,0],[93613,"Cystinuria type B",7,13,[8],[],8,1,19746,"SLC7A9",0,0],[93614,"Hematological disorder with renal involvement",4,13,[],[],8,0,19747,"",0,0],[93616,"Hemoglobin H disease",0,4,[0],[3],4,2,13512,"HBA2 HBA1",0,0],[93618,"Rare cause of hypertension",4,13,[],[],8,0,19748,"",0,0],[93619,"Rare renal tumor",4,11,[],[],8,0,19749,"",0,0],[93622,"Dent disease type 1",2,13,[5],[2],8,1,10225,"CLCN5",1,0],[93623,"Dent disease type 2",2,13,[5],[1,2],8,1,10359,"OCRL",1,0],[93626,"Rare renal disease",4,-1,[],[],8,0,19750,"",0,0],[93665,"Autoinflammatory syndrome",4,14,[],[],8,0,19751,"",7,0],[93672,"Juvenile dermatomyositis",0,14,[2],[1,2,5],4,0,8054,"",0,0],[93685,"Unicentric Castleman disease",2,4,[],[3],3,0,19753,"",0,0],[93890,"Rare developmental defect during embryogenesis",4,-1,[],[],3,0,19755,"",1,0],[93921,"Full schwannomatosis",0,1,[1],[6,7],5,4,8075,"SMARCB1 NF2 COQ6 LZTR1",1,0],[93924,"Lobar holoprosencephaly",2,3,[3,2],[0,1],8,16,19756,"PTCH1 SHH SIX3 TGIF1 ZIC2 FGFR1 GLI2 CRIPTO FOXH1 STIL FGF8 DISP1 CDON NODAL DLL1 GAS1",0,0],[93925,"Alobar holoprosencephaly",2,3,[3,2],[0,1],8,17,19757,"PTCH1 SHH SIX3 TGIF1 ZIC2 GLI2 CRIPTO FOXH1 STIL FGF8 DISP1 CDON NODAL DLL1 GAS1 STAG2 PLCH1",0,0],[93926,"Midline interhemispheric variant of holoprosencephaly",2,3,[3,2],[0,1],3,15,19758,"PTCH1 SHH SIX3 TGIF1 ZIC2 GLI2 CRIPTO FOXH1 STIL FGF8 DISP1 CDON NODAL DLL1 GAS1",0,0],[93928,"Isolated epispadias",2,3,[3],[4,0,1],8,0,19759,"",0,0],[93929,"Cloacal exstrophy",2,3,[3],[0,1],4,0,9774,"",0,0],[93930,"Classic bladder exstrophy",2,3,[3],[0,1],3,2,10805,"TP63 ISL1",0,0],[93932,"FG syndrome type 1",0,3,[5],[4,0],6,1,10590,"MED12",1,0],[93938,"Laryngotracheoesophageal cleft type 1",2,3,[],[0,1],8,0,19761,"",0,0],[93939,"Laryngotracheoesophageal cleft type 2",2,3,[],[0,1],8,0,19762,"",0,0],[93940,"Laryngotracheoesophageal cleft type 3",2,3,[],[0,1],5,0,19763,"",0,0],[93941,"Laryngotracheoesophageal cleft type 4",2,3,[],[0,1],5,0,19764,"",0,0],[93945,"X-linked intellectual disability, Porteous type",2,3,[5],[1],8,1,19766,"PQBP1",0,0],[93946,"Hamel cerebro-palato-cardiac syndrome",2,3,[5],[0,1],5,1,19767,"PQBP1",0,0],[93947,"X-linked intellectual disability, Golabi-Ito-Hall type",2,3,[5],[0,1],5,1,19768,"PQBP1",0,0],[93950,"X-linked intellectual disability, Sutherland-Haan type",2,3,[5],[4,0,1],8,1,19769,"PQBP1",0,0],[93952,"X-linked intellectual disability, Hedera type",0,3,[5],[1],5,1,10319,"ATP6AP2",1,0],[93953,"Familial thyroglossal duct cyst",6,18,[],[0,1],5,0,8565,"",0,0],[93958,"Oromandibular dystonia",0,1,[],[1,2,5,6,7],8,0,19771,"",0,0],[93964,"Blepharospasm-oromandibular dystonia syndrome",0,1,[],[6,7],8,0,19772,"",0,0],[93969,"Open spinal dysraphism with a myelomeningocele",6,3,[3,2],[0,1],8,0,19773,"",0,0],[93976,"Anotia",6,3,[],[0,1],5,0,19780,"",0,0],[94056,"Isolated humero-ulnar synostosis",6,3,[2],[8],5,0,19782,"",0,0],[94058,"Neovascular glaucoma",5,10,[2],[6,7],2,0,19783,"",0,0],[94059,"Uremic pruritus",5,4,[2],[2,5,6,7],2,0,0,"",0,0],[94063,"12q14 microdeletion syndrome",1,0,[4],[2],5,2,19784,"LEMD3 HMGA2",0,0],[94064,"Deafness-infertility syndrome",1,18,[0],[0,1,2],5,2,12621,"STRC CATSPER2",0,0],[94065,"15q24 microdeletion syndrome",7,3,[2,4],[2],5,1,13256,"SIN3A",1,0],[94066,"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia",1,3,[0],[0,1],5,0,19786,"",0,0],[94068,"Spondyloepiphyseal dysplasia congenita",0,0,[1],[4,0],3,1,8471,"COL2A1",1,0],[94075,"Severe immune-mediated enteropathy",4,12,[],[],8,0,19787,"",0,0],[94080,"Non-functioning paraganglioma",0,15,[],[2,5,6,7],5,0,19788,"",0,0],[94083,"Partington syndrome",1,3,[5],[2],5,1,10654,"ARX",0,0],[94086,"Blue diaper syndrome",0,2,[],[0,1],8,0,8877,"",0,0],[94087,"Cytophagic histiocytic panniculitis",0,5,[4],[6],5,0,19789,"",0,0],[94088,"Hereditary renal hypouricemia",1,13,[0],[3],6,2,9071,"SLC22A12 SLC2A9",0,0],[94089,"Pseudohypoparathyroidism type 1B",0,15,[1,2],[0,1,2,5],6,2,11301,"GNAS STX16",2,0],[94090,"Pseudohypoparathyroidism type 2",0,15,[2],[3],6,0,8749,"",0,0],[94091,"Mills syndrome",0,1,[],[2,5,6,7],4,0,35892,"",0,0],[94093,"Neuroleptic malignant syndrome",0,1,[4],[3],6,0,19790,"",0,0],[94122,"Cerebellar ataxia, Cayman type",0,1,[0],[0,1],8,1,11025,"ATCAY",1,0],[94124,"Spinocerebellar ataxia with axonal neuropathy type 1",0,1,[0],[5],5,1,11801,"TDP1",1,0],[94125,"Recessive mitochondrial ataxia syndrome",0,1,[0],[2,5],8,1,19791,"POLG",0,0],[94145,"Autosomal dominant cerebellar ataxia type I",3,1,[1],[3],8,0,19792,"",0,0],[94147,"Spinocerebellar ataxia type 7",0,1,[1],[1,2,5,6,7],4,1,16163,"ATXN7",1,0],[94148,"Autosomal dominant cerebellar ataxia type III",3,1,[1],[2,5,6,7],6,0,19793,"",0,0],[94149,"Autosomal dominant cerebellar ataxia type IV",3,1,[1],[],8,0,19794,"",0,0],[94150,"Anonychia congenita totalis",2,5,[0],[],8,1,8798,"RSPO4",1,0],[95157,"Acute hepatic porphyria",3,2,[1,0],[3],8,0,0,"",0,0],[95159,"Hepatoerythropoietic porphyria",0,2,[0],[2],5,1,19799,"UROD",0,0],[95232,"Lissencephaly due to LIS1 mutation",0,3,[1],[4,0,1],5,1,11830,"PAFAH1B1",2,0],[95409,"Acute adrenal insufficiency",9,15,[0,2,7],[3],8,0,19801,"",0,0],[95427,"Secondary short bowel syndrome",0,12,[2],[3],6,0,19802,"",0,0],[95428,"COG8-CDG",0,2,[0],[2],5,1,12635,"COG8",1,0],[95429,"Angioma serpiginosum",0,5,[1,2,5],[2],8,0,19803,"",0,0],[95430,"Congenital tracheomalacia",6,18,[11],[1],8,0,19804,"",0,0],[95431,"Twin to twin transfusion syndrome",0,19,[],[],8,0,19805,"",0,0],[95432,"Primary progressive aphasia",3,1,[3,2],[6],8,0,19806,"",0,0],[95433,"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome",0,1,[0],[2],5,1,10061,"PEX6",1,0],[95434,"Autosomal recessive cerebellar ataxia-movement disorder syndrome",0,1,[0],[1,2,6,7],5,2,11811,"VPS13D VPS41",1,0],[95443,"Mesocardia",6,3,[],[],8,0,19807,"",0,0],[95448,"Congenital aortic valve atresia",2,3,[],[],8,0,19808,"",0,0],[95455,"Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum",0,5,[2],[3],4,0,19810,"",0,0],[95457,"Tricuspid valve agenesis",6,3,[],[],8,0,19811,"",0,0],[95459,"Congenital tricuspid stenosis",6,3,[],[0,1],8,0,19813,"",0,0],[95461,"Straddling or overriding tricuspid valve",6,3,[],[],8,0,19814,"",0,0],[95462,"Accessory tricuspid valve tissue",6,3,[],[],8,0,19815,"",0,0],[95463,"Anomaly of the tricuspid subvalvular apparatus",4,3,[],[],8,0,19816,"",0,0],[95464,"Congenital mitral valve insufficiency and/or stenosis",4,3,[],[],8,0,19817,"",0,0],[95465,"Cleft mitral valve",6,3,[],[],8,0,19818,"",0,0],[95474,"Double-orifice mitral valve",2,3,[],[],8,0,19819,"",0,0],[95483,"Univentricular cardiopathy",4,3,[],[],8,0,19820,"",0,0],[95485,"Arterial duct anomaly",4,3,[],[],8,0,19822,"",0,0],[95486,"Premature closure of the arterial duct",6,3,[],[],8,0,19823,"",0,0],[95488,"Non-acquired pituitary hormone deficiency",4,15,[],[],8,0,19824,"",0,0],[95491,"Congenital coronary artery aneurysm",6,3,[],[],8,0,19825,"",0,0],[95494,"Combined pituitary hormone deficiencies, genetic forms",0,15,[1,0,5],[0,1],8,7,13099,"POU1F1 PROP1 HESX1 OTX2 LHX4 GLI2 FOXA2",2,0],[95495,"Disease associated with non-acquired combined pituitary hormone deficiency",4,15,[],[],8,0,19827,"",0,0],[95496,"Pituitary stalk interruption syndrome",6,15,[1,0,2],[2],8,7,19828,"PROKR2 HESX1 LHX4 WDR11 CDON GPR161 ROBO1",0,0],[95498,"Congenital anomaly of superior vena cava",4,3,[],[],8,0,19829,"",0,0],[95499,"Congenital anomaly of the inferior vena cava",4,3,[],[],8,0,19830,"",0,0],[95500,"Congenital anomaly of the coronary sinus",4,3,[],[],8,0,19831,"",0,0],[95502,"Acquired pituitary hormone deficiency",4,15,[],[],8,0,19832,"",0,0],[95503,"Pituitary hormone deficiency of tumoral origin",4,15,[],[],8,0,19833,"",0,0],[95505,"Pituitary hormone deficiency of meningeal origin",4,15,[],[],8,0,19834,"",0,0],[95506,"Primary hypophysitis",3,15,[2],[6],8,0,19835,"",0,0],[95507,"Congenital anomaly of hepatic vein",6,3,[],[],8,0,19836,"",0,0],[95510,"Atrial appendage anomaly",4,3,[],[],8,0,19837,"",0,0],[95512,"Adenohypophysitis",0,15,[],[5,6],8,0,19838,"",0,0],[95513,"Panhypophysitis",0,15,[],[2,5,6,7],8,0,19839,"",0,0],[95611,"Pituitary hormone deficiency of vascular origin",4,15,[],[],8,0,19841,"",0,0],[95613,"Pituitary apoplexy",0,15,[2],[3],8,0,6908,"",0,0],[95617,"Pituitary hormone deficiency secondary to a granulomatous disease",4,15,[],[],8,0,19843,"",0,0],[95618,"Pituitary hormone deficiency secondary to storage disease",4,15,[],[],8,0,19844,"",0,0],[95619,"Post-traumatic pituitary deficiency",0,15,[],[2,5,6,7],8,0,19845,"",0,0],[95626,"Acquired arginine vasopressin deficiency",2,15,[],[3],8,0,19846,"",0,0],[95699,"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency",0,3,[0],[0,1],4,1,13310,"POR",1,0],[95700,"Familial adrenal hypoplasia with absent pituitary luteinizing hormone",0,15,[0],[1],5,0,8731,"",0,0],[95702,"X-linked adrenal hypoplasia congenita",0,15,[5],[1,2],3,1,10264,"NR0B1",1,0],[95706,"Non-syndromic posterior hypospadias",6,3,[3,5],[4,0],2,2,19848,"AR MAMLD1",0,0],[95707,"Idiopathic isolated micropenis",6,3,[],[0],6,0,19849,"",0,0],[95708,"Rare precocious puberty",4,15,[],[],8,0,88,"",0,0],[95709,"Rare acquired premature ovarian failure",4,15,[],[],8,0,19851,"",0,0],[95710,"Rare non-acquired premature ovarian failure",4,15,[],[],8,0,19852,"",2,0],[95711,"Congenital hypothyroidism due to developmental anomaly",4,15,[],[],2,0,19853,"",0,0],[95712,"Thyroid ectopia",6,15,[2],[0,1],2,2,19854,"NKX2-5 PAX8",0,0],[95713,"Athyreosis",6,15,[1],[0,1],3,6,19855,"SLC26A4 TSHR FOXE1 NKX2-5 PAX8 NKX2-1",0,0],[95714,"Primary congenital hypothyroidism without thyroid developmental anomaly",4,15,[],[],8,0,19856,"",0,0],[95715,"Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies",0,15,[2],[0],3,0,19857,"",0,0],[95716,"Familial thyroid dyshormonogenesis",0,15,[0],[0,1],3,6,10132,"SLC5A5 TPO DUOX2 DUOXA2 TG IYD",0,0],[95717,"Idiopathic congenital hypothyroidism",0,15,[],[0,1],8,0,19858,"",0,0],[95718,"Congenital thyroid malformation without hypothyroidism",4,15,[],[],8,0,19859,"",0,0],[95719,"Thyroid hemiagenesis",6,15,[2],[0],8,0,19860,"",0,0],[95720,"Thyroid hypoplasia",6,15,[1,2],[0,1],3,3,19861,"SLC26A4 TSHR PAX8",0,0],[96055,"Tetrasomy 21 syndrome",1,3,[],[4,0,1],5,0,19864,"",0,0],[96059,"Mosaic trisomy 4 syndrome",1,3,[],[4,0],5,0,19865,"",0,0],[96060,"Mosaic trisomy 5 syndrome",1,3,[],[4,0],5,0,19866,"",0,0],[96061,"Mosaic trisomy 8 syndrome",1,3,[2,4],[4,0,1],6,0,19867,"",0,0],[96063,"Mosaic trisomy 10 syndrome",1,3,[],[4,0],5,0,19868,"",0,0],[96068,"Mosaic trisomy 22 syndrome",1,3,[],[4,0],5,0,19869,"",0,0],[96069,"Distal duplication 1p36 syndrome",1,3,[],[0,1],8,0,19870,"",0,0],[96070,"Distal duplication 2p syndrome",1,3,[],[0],5,0,19871,"",0,0],[96071,"Distal duplication 3p syndrome",1,3,[],[4,0],5,0,19872,"",0,0],[96072,"4p16.3 microduplication syndrome",1,3,[],[0,1],5,0,19873,"",0,0],[96074,"Distal duplication 7p syndrome",1,3,[],[4,0],5,0,19874,"",0,0],[96076,"Beckwith-Wiedemann syndrome due to 11p15 microduplication",7,3,[],[],8,0,19875,"",0,0],[96078,"16p13.3 microduplication syndrome",1,3,[],[0,1],5,0,13273,"",0,0],[96092,"8p inverted duplication/deletion syndrome",1,3,[2,4],[4,0,1],5,0,19876,"",0,0],[96094,"Distal duplication 2q syndrome",1,3,[],[0,1],8,0,19877,"",0,0],[96095,"3q26 microduplication syndrome",1,3,[],[4,0],5,0,19878,"",0,0],[96096,"Distal duplication 4q syndrome",1,3,[],[4,0],8,0,19879,"",0,0],[96097,"Distal duplication 5q syndrome",1,3,[],[0],8,0,19880,"",0,0],[96098,"Distal duplication 6q syndrome",1,3,[],[4,0],8,0,19881,"",0,0],[96100,"Distal duplication 8q syndrome",1,3,[],[4,0],8,0,19882,"",0,0],[96101,"Distal duplication 9q syndrome",1,3,[],[4,0],8,0,19883,"",0,0],[96102,"Distal duplication 10q syndrome",1,3,[],[0,1],5,0,19884,"",0,0],[96103,"Distal duplication 11q syndrome",1,3,[],[4,0],8,0,19885,"",0,0],[96105,"Distal duplication 13q syndrome",1,3,[],[4,0],8,0,19886,"",0,0],[96106,"Distal duplication 16q syndrome",1,3,[],[4,0],8,0,19887,"",0,0],[96107,"Distal duplication 20q syndrome",1,3,[],[4,0],8,0,19888,"",0,0],[96109,"Distal duplication 22q syndrome",1,3,[],[4,0],8,0,19889,"",0,0],[96112,"Non-distal duplication 9q syndrome",1,3,[],[0],8,0,19890,"",0,0],[96121,"7q11.23 microduplication syndrome",1,3,[],[0,1],3,0,12342,"",0,0],[96123,"Monosomy 22 syndrome",1,3,[],[0],8,0,19891,"",0,0],[96125,"Distal deletion 6p syndrome",1,3,[2,4],[4,0,1],5,0,12948,"",0,0],[96126,"Distal deletion 7p syndrome",1,3,[],[4,0],8,0,19892,"",0,0],[96129,"Distal deletion 19p syndrome",1,3,[],[4,0],8,0,19893,"",0,0],[96145,"Distal deletion 4q syndrome",1,3,[],[0,1],8,0,19895,"",0,0],[96147,"Kleefstra syndrome due to 9q34 microdeletion",7,3,[2],[0,1],5,1,19896,"EHMT1",0,0],[96148,"Distal deletion 10q syndrome",1,3,[2,4],[4,0],5,1,12315,"EBF3",0,0],[96149,"Distal deletion 12q syndrome",1,3,[],[0],8,0,19897,"",0,0],[96150,"Distal deletion 14q syndrome",1,3,[],[0],8,0,19898,"",0,0],[96160,"Non-distal deletion 12q syndrome",1,3,[],[0],8,0,19900,"",0,0],[96167,"Recombinant 8 syndrome",1,3,[4],[0,1],8,0,8365,"",0,0],[96168,"Monosomy 13q34 syndrome",1,3,[2],[4,0],6,0,19902,"",0,0],[96169,"Koolen-De Vries syndrome",1,3,[1],[4,0,1],6,0,12496,"",1,0],[96170,"Emanuel syndrome",1,3,[],[4,0],6,0,12176,"",0,0],[96171,"Ring chromosome 2 syndrome",1,3,[],[4,0,1],5,0,19903,"",0,0],[96172,"Ring chromosome 3 syndrome",1,3,[],[4,0,1],5,0,19904,"",0,0],[96173,"Ring chromosome 9 syndrome",1,3,[],[4,0],5,0,19905,"",0,0],[96175,"Ring chromosome 11 syndrome",1,3,[],[4,0,1],5,0,19906,"",0,0],[96176,"Ring chromosome 13 syndrome",1,3,[],[4,0,1,2],3,0,19907,"",0,0],[96177,"Ring chromosome 15 syndrome",1,3,[],[4,0,1],5,0,19908,"",0,0],[96178,"Ring chromosome 16 syndrome",1,3,[],[4,0,1],5,0,19909,"",0,0],[96179,"Maternal uniparental disomy of chromosome 2 syndrome",1,3,[],[4,0],8,0,19910,"",0,0],[96180,"Maternal uniparental disomy of chromosome 4 syndrome",1,3,[],[4,0],8,0,19911,"",0,0],[96181,"Maternal uniparental disomy of chromosome 6 syndrome",1,3,[],[4,0],5,0,19912,"",0,0],[96182,"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7",7,3,[],[4,0],8,1,19913,"GRB10",0,0],[96183,"Maternal uniparental disomy of chromosome 9 syndrome",1,3,[],[4,0],8,0,19914,"",0,0],[96184,"Temple syndrome due to maternal uniparental disomy of chromosome 14",7,3,[],[4,0],5,3,19915,"MEG3 RTL1 DLK1",0,0],[96185,"Maternal uniparental disomy of chromosome 16 syndrome",1,3,[],[4,0],8,0,19916,"",0,0],[96186,"Maternal uniparental disomy of chromosome 20 syndrome",1,3,[],[4,0],5,0,19917,"",0,0],[96187,"Maternal uniparental disomy of chromosome 21 syndrome",1,3,[],[],5,0,19918,"",0,0],[96188,"Maternal uniparental disomy of chromosome 22 syndrome",1,3,[],[4,0,1],5,0,19919,"",0,0],[96190,"Paternal uniparental disomy of chromosome 5 syndrome",1,3,[],[4,0],8,0,19920,"",0,0],[96191,"Paternal uniparental disomy of chromosome 6 syndrome",1,3,[],[4,0],8,2,19921,"HYMAI PLAGL1",0,0],[96192,"Paternal uniparental disomy of chromosome 7 syndrome",1,3,[],[1,2],5,0,19922,"",0,0],[96193,"Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11",7,3,[],[],8,0,19923,"",0,0],[96194,"Paternal uniparental disomy of chromosome 20 syndrome",1,3,[],[4,0],8,0,19924,"",0,0],[96195,"Paternal uniparental disomy of chromosome 21 syndrome",1,3,[],[4,0],8,0,19925,"",0,0],[96201,"X small rings syndrome",1,3,[],[4,0],8,0,19926,"",0,0],[96210,"Rare genetic deafness",4,18,[],[],8,0,37716,"",0,0],[96253,"Cushing disease",0,15,[2],[6],3,7,9050,"ATRX BRAF CDH23 TP53 NR3C1 USP8 USP48",0,0],[96256,"Somatotropic adenoma",3,15,[],[],8,0,6238,"",0,0],[96263,"48,XXXY syndrome",1,3,[2,4],[4,0,1],3,0,19928,"",0,0],[96264,"49,XXXXY syndrome",1,3,[2,4],[2],4,0,19929,"",0,0],[96265,"Leydig cell hypoplasia due to complete LH resistance",2,3,[0],[0],8,1,19930,"LHCGR",0,0],[96266,"Leydig cell hypoplasia due to partial LH resistance",2,3,[0],[0],8,1,19931,"LHCGR",0,0],[96269,"Isolated partial vaginal agenesis",6,3,[],[],2,0,19932,"",0,0],[96321,"Polyploidy syndrome",4,3,[],[],8,0,19934,"",0,0],[96325,"Isochromosome Y syndrome",4,3,[],[],8,0,19935,"",0,0],[96333,"Rare otorhinolaryngological malformation",4,3,[],[],8,0,19936,"",0,0],[96334,"Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14",7,3,[],[0,1],5,3,11975,"MEG3 RTL1 DLK1",0,0],[96344,"Rare gynecologic or obstetric disease",4,-1,[],[],8,0,19937,"",0,0],[96346,"Anorectal malformation",4,3,[],[],8,0,19938,"",0,0],[97120,"Distal arthrogryposis",3,3,[],[],8,0,19942,"",1,0],[97214,"Eisenmenger syndrome",1,3,[2],[2,5,6],4,0,19944,"",0,0],[97229,"Riboflavin transporter deficiency",1,1,[0],[1,2,5,6],5,0,8891,"",0,0],[97230,"Solar urticaria",0,5,[2],[3],3,0,19945,"",0,0],[97232,"Fingerprint body myopathy",0,1,[],[0],5,0,10591,"",0,0],[97234,"Glycogen storage disease due to phosphoglycerate mutase deficiency",0,2,[0],[2,5],5,1,9865,"PGAM2",1,0],[97238,"Rippling muscle disease",0,1,[1,0],[1,2,5,6,7],5,1,19947,"CAV3",1,0],[97239,"Reducing body myopathy",0,1,[7,5],[1,2,6],5,1,19948,"FHL1",0,0],[97240,"Zebra body myopathy",0,1,[4],[0],5,1,19949,"ACTA1",0,0],[97242,"Congenital muscular dystrophy",4,1,[1,0],[0,1],3,0,19950,"",0,0],[97244,"Rigid spine syndrome",0,1,[0],[0,1],4,2,19951,"ACTA1 SELENON",1,0],[97245,"Congenital myopathy",4,1,[],[],3,0,19952,"",8,0],[97249,"Pontocerebellar hypoplasia type 3",2,3,[0],[0],5,1,11948,"PCLO",1,0],[97252,"Mega-cisterna magna",6,3,[],[],8,0,19953,"",0,0],[97253,"Neuroendocrine tumor of pancreas",4,15,[1,2],[6],4,0,19954,"",0,0],[97261,"GRFoma",0,15,[2],[6],6,0,19955,"",0,0],[97275,"Encephalitis",4,1,[],[],8,0,19956,"",0,0],[97278,"PPoma",0,15,[2],[6],6,0,19957,"",0,0],[97279,"Insulinoma",0,15,[2],[3],4,2,5048,"MEN1 YY1",0,0],[97280,"Glucagonoma",0,15,[2],[6],5,0,19959,"",0,0],[97282,"VIPoma",0,15,[2],[3],5,0,19960,"",0,0],[97283,"Somatostatinoma",0,15,[4],[6,7],5,0,6976,"",0,0],[97285,"Thyroid lymphoma",0,11,[],[8],8,0,19962,"",0,0],[97286,"Carney-Stratakis syndrome",0,11,[1],[5,6],5,4,11740,"SDHA SDHB SDHC SDHD",3,0],[97287,"Bronchial neuroendocrine tumor",0,11,[2],[2,5,6,7],8,0,19963,"",0,0],[97289,"Thymic neuroendocrine tumor",0,11,[],[6,7],8,0,19964,"",0,0],[97290,"Familial papillary thyroid carcinoma with renal papillary neoplasia",0,11,[],[7],7,0,11578,"",0,0],[97292,"Cardiogenic shock",5,7,[2],[2,5,6,7],2,0,800175,"",0,0],[97293,"Rare benign ovarian tumor",4,11,[],[],8,0,19965,"",0,0],[97297,"Bohring-Opitz syndrome",1,3,[1],[4,0],5,1,11510,"ASXL1",1,0],[97330,"Thoracic outlet syndrome",0,29,[],[6,7],8,0,5979,"",0,0],[97332,"Kienbock disease",0,0,[],[6],3,0,19967,"",0,0],[97335,"Osgood-Schlatter disease",0,0,[2],[2,5],8,0,4241,"",0,0],[97336,"Panner disease",0,0,[2],[2],8,0,19969,"",0,0],[97337,"Sinding-Larsen-Johansson disease",0,0,[2],[2,5],8,0,19970,"",0,0],[97338,"Melanoma of soft tissue",0,11,[2],[6],3,3,19971,"EWSR1 ATF1 CREB1",0,0],[97339,"Dural sinus malformation with arteriovenous shunt",6,3,[],[4,0,1],8,0,19972,"",0,0],[97340,"Hunter-McAlpine syndrome",1,3,[],[4,0,1],5,0,11065,"",0,0],[97341,"Persistent placoid maculopathy",0,10,[],[6,7],5,0,19973,"",0,0],[97345,"ABri amyloidosis",2,1,[1],[6],8,1,8306,"ITM2B",1,0],[97346,"ADan amyloidosis",2,1,[1],[],8,1,7297,"ITM2B",0,0],[97349,"Postencephalitic parkinsonism",0,1,[],[6,7],8,0,1945,"",0,0],[97352,"Pellagra",0,5,[],[],8,0,19975,"",0,0],[97353,"Dementia pugilistica",0,1,[],[6],5,0,19976,"",0,0],[97355,"Caribbean parkinsonism",0,1,[],[6,7],8,0,19977,"",0,0],[97360,"Robinow syndrome",1,3,[1,0],[0,1],6,0,19978,"",1,0],[97361,"Renal hypoplasia, unilateral",2,3,[2],[3],6,0,19979,"",0,0],[97362,"Renal hypoplasia, bilateral",2,3,[1,2],[3],6,2,19980,"PAX2 PBX1",0,0],[97363,"Unilateral multicystic dysplastic kidney",2,3,[1],[3],2,1,19981,"HNF1B",0,0],[97364,"Bilateral multicystic dysplastic kidney",2,3,[1],[4,0],6,1,19982,"HNF1B",0,0],[97366,"Multiloculated renal cyst",6,3,[],[1,6,7],6,0,19983,"",0,0],[97367,"Renal tubular dysgenesis due to twin-twin transfusion",7,3,[2],[],8,0,19984,"",0,0],[97368,"Drug-related renal tubular dysgenesis",7,3,[2],[],8,0,19985,"",0,0],[97369,"Renal tubular dysgenesis of genetic origin",7,3,[0],[],8,4,9970,"ACE AGT REN AGTR1",4,0],[97548,"Right isomerism",2,3,[0],[0],2,1,8832,"GDF1",1,0],[97560,"Primary membranous glomerulonephritis",0,13,[],[6],4,0,13860,"",0,0],[97563,"Pauci-immune glomerulonephritis with ANCA",2,13,[2],[6,7],6,0,19988,"",0,0],[97564,"Pauci-immune glomerulonephritis without ANCA",2,13,[2],[2,5,6],6,0,19989,"",0,0],[97566,"Non-amyloid fibrillary glomerulopathy",0,13,[2],[6],8,0,19990,"",0,0],[97567,"Immunotactoid glomerulopathy",0,13,[2],[6],5,0,19991,"",0,0],[97593,"Pseudohypoparathyroidism",4,15,[1,2],[3],4,0,19992,"",1,0],[97598,"Congenital renal artery stenosis",0,3,[],[0],8,0,19993,"",0,0],[97678,"Maternal uniparental disomy of chromosome 13 syndrome",1,3,[],[6],5,0,19994,"",0,0],[97685,"17q11 microdeletion syndrome",2,3,[2],[4,0,1],6,1,13357,"NF1",0,0],[97929,"Rare cardiac disease",4,-1,[],[],8,0,19996,"",0,0],[97935,"Rare gastroenterologic disease",4,-1,[],[],8,0,19997,"",0,0],[97944,"Gastroduodenal malformation",4,3,[],[],8,0,19998,"",0,0],[97945,"Intestinal malformation",4,3,[],[],8,0,19999,"",0,0],[97955,"Rare respiratory disease",4,-1,[],[],8,0,20000,"",0,0],[97957,"Respiratory or thoracic malformation",4,3,[],[],8,0,20001,"",0,0],[97962,"Rare surgical thoracic disease",4,-1,[],[],8,0,20002,"",0,0],[97965,"Rare surgical cardiac disease",4,3,[],[],8,0,20003,"",0,0],[97966,"Rare ophthalmic disorder",4,-1,[],[],8,0,20004,"",0,0],[97978,"Rare endocrine disease",4,-1,[],[],8,0,20005,"",0,0],[97992,"Rare hematologic disease",4,-1,[],[],8,0,5570,"",0,0],[98004,"Rare immune disease",4,-1,[],[],8,0,20008,"",0,0],[98006,"Rare neurologic disease",4,-1,[],[],8,0,20009,"",0,0],[98010,"Infectious disease of the nervous system",4,8,[],[],8,0,20010,"",0,0],[98022,"Rare headache",4,1,[],[],8,0,20011,"",0,0],[98023,"Rare systemic or rheumatologic disease",4,-1,[],[],8,0,37860,"",0,0],[98026,"Rare odontologic disease",4,-1,[],[],8,0,20013,"",0,0],[98027,"Rare disease with odontological manifestation",4,6,[],[],8,0,20014,"",0,0],[98028,"Rare circulatory system disease",4,-1,[],[],8,0,20015,"",0,0],[98033,"Rare neurologic disease with psychiatric involvement",4,1,[],[],8,0,20016,"",0,0],[98036,"Rare otorhinolaryngologic disease",4,-1,[],[],8,0,20017,"",0,0],[98038,"Cranial malformation",4,3,[],[],8,0,20018,"",0,0],[98039,"Digestive tract malformation",4,3,[],[],8,0,20019,"",0,0],[98041,"Visceral malformation of the liver, biliary tract, pancreas or spleen",4,3,[],[],8,0,20020,"",0,0],[98043,"Diaphragmatic or abdominal wall malformation",4,3,[],[],8,0,20021,"",0,0],[98044,"Central nervous system malformation",4,3,[],[],8,0,20022,"",1,0],[98045,"Respiratory or mediastinal malformation",4,3,[],[],8,0,20023,"",0,0],[98047,"Rare infertility",4,-1,[],[],8,0,20024,"",0,0],[98048,"Rare male infertility",4,20,[],[],8,0,20025,"",0,0],[98049,"Rare female infertility",4,20,[],[],8,0,20026,"",0,0],[98050,"Rare allergic disease",4,-1,[],[],8,0,20027,"",0,0],[98052,"Rare allergic respiratory disease",4,9,[],[],8,0,20028,"",0,0],[98053,"Rare genetic disease",4,-1,[],[],8,0,21198,"",0,0],[98054,"Rare genetic cardiac disease",4,7,[],[],8,0,20029,"",0,0],[98056,"Rare genetic renal disease",4,13,[],[],8,0,20030,"",0,0],[98057,"Rare tumor",4,11,[],[],8,0,20031,"",0,0],[98058,"Rare urinary tract tumor",4,11,[],[],8,0,20032,"",0,0],[98059,"Rare digestive tumor",4,11,[],[],8,0,20033,"",0,0],[98060,"Rare respiratory tumor",4,11,[],[],8,0,20034,"",0,0],[98061,"Rare otorhinolaryngologic tumor",4,11,[],[],8,0,20035,"",0,0],[98062,"Rare nervous system tumor",4,11,[],[],8,0,20036,"",0,0],[98063,"Rare gynecological tumor",4,11,[],[],8,0,20037,"",0,0],[98074,"Gonadal dysgenesis of gynecological interest",4,3,[],[],8,0,20038,"",0,0],[98078,"46,XX difference of sex development induced by androgens excess",4,3,[],[],8,0,20039,"",0,0],[98085,"46,XY difference of sex development",4,3,[],[],3,0,20040,"",1,0],[98086,"46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue",4,3,[],[],8,0,20041,"",0,0],[98087,"Syndrome with 46,XY difference of sex development",4,3,[],[],8,0,20042,"",0,0],[98095,"Autosomal recessive congenital cerebellar ataxia",4,1,[0],[],8,0,20043,"",0,0],[98096,"Autosomal recessive metabolic cerebellar ataxia",4,1,[0],[],8,0,20044,"",0,0],[98097,"Autosomal recessive cerebellar ataxia due to a DNA repair defect",4,1,[0],[],8,0,20045,"",0,0],[98098,"Autosomal recessive degenerative and progressive cerebellar ataxia",4,1,[0],[],8,0,20046,"",0,0],[98099,"Autosomal recessive syndromic cerebellar ataxia",4,1,[0],[],8,0,20047,"",0,0],[98127,"Autosomal anomaly syndrome",4,3,[],[],8,0,20049,"",0,0],[98130,"Autosomal trisomy syndrome",4,3,[],[],8,0,20050,"",0,0],[98131,"Total autosomal trisomy syndrome",4,3,[],[],8,0,20051,"",0,0],[98132,"Partial autosomal duplication/triplication syndrome",4,3,[],[],8,0,20052,"",0,0],[98141,"Total autosomal monosomy syndrome",4,3,[],[],8,0,20053,"",0,0],[98142,"Partial autosomal deletion syndrome",4,3,[],[],8,0,20054,"",0,0],[98152,"Autosomal uniparental disomy syndrome",4,3,[],[],8,0,20055,"",0,0],[98153,"Maternal uniparental disomy syndrome",4,3,[],[],8,0,20056,"",0,0],[98154,"Paternal uniparental disomy syndrome",4,3,[],[],8,0,20057,"",0,0],[98155,"Sex-chromosome anomaly syndrome",4,3,[],[],8,0,20058,"",0,0],[98156,"Sex-chromosome number anomaly syndrome",4,3,[],[],8,0,20059,"",0,0],[98157,"Sex-chromosome structural anomaly syndrome",4,3,[],[],8,0,20060,"",0,0],[98158,"Chromosome Y structural anomaly syndrome",4,3,[],[],8,0,20061,"",0,0],[98159,"Chromosome X structural anomaly syndrome",4,3,[],[],8,0,20062,"",0,0],[98196,"Malformation syndrome with hamartosis",4,3,[],[],8,0,20063,"",0,0],[98203,"Combined dystonia",4,1,[],[],8,0,20065,"",1,0],[98249,"Ehlers-Danlos syndrome",3,14,[1,0,5],[0,1],4,0,20066,"",3,0],[98252,"Infectious encephalitis",4,8,[],[],8,0,6009,"",0,0],[98255,"Chronic encephalitis",4,1,[],[],8,0,20069,"",0,0],[98259,"Childhood-onset epilepsy syndrome",4,1,[],[],8,0,20072,"",1,0],[98261,"Progressive myoclonic epilepsy",3,1,[],[0,1,2,5],8,0,20074,"",8,0],[98267,"Genetic non-syndromic obesity",0,15,[2],[1,2],6,0,20075,"",0,0],[98274,"Myeloproliferative neoplasm",3,11,[],[3],3,0,20076,"",0,0],[98275,"Myelodysplastic/myeloproliferative disease",3,11,[],[],4,0,20077,"",0,0],[98277,"Acute myeloid leukemia with recurrent genetic anomaly",4,11,[],[],4,0,20078,"",0,0],[98282,"Plasma cell tumor",4,11,[],[],8,0,4959,"",0,0],[98287,"Histiocytic and dendritic cell tumor",4,11,[],[],5,0,6247,"",0,0],[98288,"Macrophage or histiocytic tumor",4,11,[],[],8,0,20081,"",0,0],[98289,"Dendritic cell tumor",4,11,[],[],8,0,20082,"",0,0],[98290,"Immunodeficiency-associated lymphoproliferative disease",4,16,[],[],8,0,20083,"",0,0],[98291,"Lymphoproliferative disease associated with primary immune disease",4,11,[],[2],8,0,20084,"",0,0],[98292,"Mastocytosis",4,11,[],[3],2,0,7950,"",1,0],[98293,"Hodgkin lymphoma",3,11,[3],[1,2,5,6,7],3,0,4952,"",0,0],[98300,"Idiopathic interstitial pneumonia",3,9,[],[],8,0,2429,"",0,0],[98301,"Laminopathy",4,21,[],[],8,0,21106,"",0,0],[98305,"Genetic lipodystrophy",4,15,[],[],8,0,20087,"",1,0],[98306,"Familial partial lipodystrophy",3,15,[1,0],[2,5,6,7],4,0,20088,"",0,0],[98307,"Acquired lipodystrophy",4,15,[],[],8,0,20089,"",0,0],[98313,"Male infertility due to gonadal dysgenesis",4,3,[],[],8,0,20090,"",0,0],[98343,"Male infertility due to obstructive azoospermia",4,20,[],[],8,0,20091,"",0,0],[98349,"Autosomal dominant isolated diffuse palmoplantar keratoderma",4,5,[1],[],8,0,20093,"",0,0],[98352,"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature",4,5,[1],[],8,0,20094,"",0,0],[98353,"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature",4,5,[1],[],8,0,20095,"",0,0],[98356,"Autosomal recessive isolated diffuse palmoplantar keratoderma",4,5,[0],[],8,0,20096,"",0,0],[98357,"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature",4,5,[0],[],8,0,20097,"",0,0],[98360,"Constitutional anemia due to iron metabolism disorder",4,4,[],[],8,0,20098,"",0,0],[98362,"Constitutional sideroblastic anemia",4,4,[],[],8,0,20099,"",0,0],[98363,"Rare hemolytic anemia",4,4,[],[],8,0,20100,"",0,0],[98364,"Rare constitutional hemolytic anemia due to a red cell membrane anomaly",4,4,[],[],8,0,20101,"",0,0],[98365,"Hereditary stomatocytosis",3,4,[],[],8,0,20102,"",0,0],[98366,"Constitutional hemolytic anemia due to acanthocytosis",4,4,[],[],8,0,20103,"",0,0],[98369,"Rare constitutional hemolytic anemia due to an enzyme disorder",4,4,[],[],8,0,20104,"",0,0],[98370,"Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies",4,4,[],[],8,0,20105,"",0,0],[98372,"Hemolytic anemia due to a disorder of glycolytic enzymes",4,4,[],[],8,0,20106,"",0,0],[98374,"Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder",4,4,[],[],8,0,20107,"",0,0],[98375,"Autoimmune hemolytic anemia",3,4,[3],[3],3,0,20108,"",0,0],[98396,"Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder",4,4,[],[],8,0,20109,"",0,0],[98408,"Constitutional megaloblastic anemia due to folate metabolism disorder",4,4,[],[],8,0,20111,"",0,0],[98415,"Vitamin B12- and folate-independent constitutional megaloblastic anemia",4,4,[],[],8,0,20112,"",0,0],[98421,"Primary acquired red cell aplasia",3,4,[],[],8,0,20113,"",0,0],[98427,"Erythrocytosis",3,4,[],[],8,0,5571,"",0,0],[98429,"Rare coagulation disorder",4,4,[],[],8,0,20116,"",0,0],[98434,"Hereditary combined deficiency of vitamin K-dependent clotting factors",0,4,[0],[0,1,5,6],5,2,15722,"GGCX VKORC1",0,0],[98455,"Alpha granule disease",4,4,[],[],8,0,20117,"",0,0],[98456,"Dense granule disease",4,4,[],[],8,0,20118,"",0,0],[98472,"Skeletal muscle disease",4,1,[],[],8,0,20120,"",0,0],[98473,"Muscular dystrophy",4,1,[],[],8,0,20121,"",2,0],[98482,"Idiopathic inflammatory myopathy",4,1,[],[],6,0,20122,"",0,0],[98486,"Metabolic myopathy",4,1,[],[],8,0,20123,"",0,0],[98491,"Neuromuscular junction disease",4,1,[],[],8,0,20124,"",0,0],[98494,"Acquired neuromuscular junction disease",4,1,[],[],8,0,20125,"",0,0],[98495,"Genetic neuromuscular junction disease",4,1,[],[],8,0,0,"",0,0],[98496,"Rare peripheral neuropathy",4,1,[],[],8,0,20126,"",0,0],[98497,"Genetic peripheral neuropathy",4,1,[],[],8,0,20127,"",4,0],[98503,"Motor neuron disease",4,1,[],[],8,0,20128,"",0,0],[98505,"Genetic motor neuron disease",4,1,[],[],8,0,24257,"",0,0],[98506,"Acquired motor neuron disease",4,1,[],[],8,0,20129,"",0,0],[98514,"Malformation of the cerebellar vermis",4,3,[],[],8,0,20130,"",0,0],[98516,"Malformation of the cerebellar hemispheres",4,3,[],[],8,0,20131,"",0,0],[98518,"Congenital cranial dysinnervation disorder",4,3,[],[],8,0,20132,"",0,0],[98523,"Pontocerebellar hypoplasia",1,3,[0],[4,0,1],8,0,20135,"",4,0],[98534,"Neurodegenerative disease with dementia",4,1,[],[],8,0,20136,"",0,0],[98535,"Frontotemporal degeneration with dementia",3,1,[],[],8,0,20137,"",0,0],[98538,"Ataxia with dementia",4,1,[],[],8,0,20138,"",0,0],[98539,"Early-onset ataxia with dementia",4,1,[],[],8,0,20139,"",0,0],[98540,"Late-onset ataxia with dementia",4,1,[],[],8,0,20140,"",0,0],[98542,"Infectious disease with dementia",4,1,[],[],8,0,20141,"",0,0],[98543,"Metabolic disease with dementia",4,1,[],[],8,0,20142,"",0,0],[98544,"Cerebral lipidosis with dementia",4,1,[],[],8,0,20143,"",0,0],[98549,"Rare cerebrovascular dementia",4,1,[],[],8,0,20144,"",0,0],[98553,"Developmental defect of the eye",4,3,[],[],8,0,20145,"",1,0],[98555,"Microphthalmia-anophthalmia-coloboma",4,3,[1,0,5],[4,0],3,0,20147,"",0,0],[98557,"Syndromic aniridia",4,3,[],[],8,0,20148,"",0,0],[98560,"Rare palpebral disorder",4,3,[],[],8,0,20151,"",0,0],[98561,"Congenital malformation of the eyelid",4,3,[],[],8,0,20152,"",0,0],[98562,"Cryptophthalmia",4,3,[],[],8,0,20153,"",0,0],[98563,"Microblepharon-ablephara syndrome",3,3,[],[],8,0,20154,"",0,0],[98564,"Eyelid border anomaly",4,3,[],[],8,0,20155,"",0,0],[98565,"Syndromic ankyloblepharon filiforme adnatum",4,3,[],[],8,0,20156,"",0,0],[98566,"Syndromic eyelid coloboma",4,3,[],[],8,0,20157,"",0,0],[98567,"Rare eyelid malposition disorder",4,3,[],[],8,0,20158,"",0,0],[98570,"Congenital ectropion",4,3,[],[],8,0,20161,"",0,0],[98571,"Secondary ectropion",4,10,[],[],8,0,20162,"",0,0],[98574,"Syndromic epicanthus",4,3,[],[],8,0,20165,"",0,0],[98575,"Syndromic telecanthus",4,3,[],[],8,0,8537,"",0,0],[98576,"Syndromic outer canthal malposition",4,3,[],[],8,0,20167,"",0,0],[98578,"Rare disorder with ptosis",4,10,[],[],8,0,20169,"",0,0],[98594,"Rare eyebrow/eyelash disorder",4,3,[],[],8,0,20184,"",0,0],[98602,"Rare disorder of the lacrimal apparatus",4,10,[],[],8,0,20192,"",0,0],[98604,"Congenital alacrima",4,10,[],[],8,0,20194,"",0,0],[98605,"Lacrimal drainage system anomaly",4,10,[],[],8,0,20195,"",0,0],[98606,"Syndromic orbital border hypoplasia",1,10,[],[0],5,0,8138,"",0,0],[98609,"EEC syndrome and related disorders",4,3,[],[],8,0,20197,"",0,0],[98610,"Rare disorder with conjunctival involvement as a major feature",4,10,[],[],8,0,20198,"",0,0],[98618,"Rare refraction anomaly",4,10,[],[],8,0,20206,"",0,0],[98619,"Rare isolated myopia",0,10,[1,0],[],8,4,20207,"SCO2 P3H2 LRPAP1 SLC39A5",0,0],[98621,"Rare hyperopia and astigmatism",4,10,[],[],8,0,20209,"",0,0],[98622,"Syndromic hyperopia",4,10,[],[],8,0,20210,"",0,0],[98623,"Syndromic keratoconus",4,10,[],[],8,0,20211,"",0,0],[98625,"Superficial corneal dystrophy",4,10,[1,5],[3],8,0,20212,"",0,0],[98626,"Stromal corneal dystrophy",4,10,[1,0],[3],6,0,20213,"",0,0],[98627,"Posterior corneal dystrophy",4,10,[1,0,5],[3],6,0,20214,"",0,0],[98628,"Syndromic corneal dystrophy",4,10,[],[],8,0,20215,"",0,0],[98631,"Congenital malformation of the eye with glaucoma as a major feature",4,3,[],[],8,0,20216,"",0,0],[98634,"Anterior segment developmental anomaly without extraocular manifestations",4,3,[],[],8,0,11119,"",0,0],[98635,"Corneodysgenesis",4,3,[],[],8,0,20219,"",0,0],[98638,"Rare disease with glaucoma as a major feature",4,10,[],[],8,0,20222,"",0,0],[98639,"Rare lens disease",4,10,[],[],8,0,20223,"",0,0],[98640,"Rare disorder with lens opacification",4,10,[],[],8,0,20224,"",0,0],[98641,"Syndromic cataract",4,10,[],[],8,0,20225,"",0,0],[98642,"Chromosomal anomaly with cataract",4,10,[],[],8,0,20226,"",0,0],[98644,"Metabolic disease with cataract",4,10,[],[],8,0,20228,"",0,0],[98646,"Renal disease with cataract",4,10,[],[],8,0,20230,"",0,0],[98648,"Musculoskeletal disease with cataract",4,10,[],[],8,0,20232,"",0,0],[98649,"Dentocutaneous disease with cataract",4,10,[],[],8,0,20233,"",0,0],[98650,"Craniofacial anomaly with cataract",4,10,[],[],8,0,20234,"",0,0],[98652,"Lens size anomaly",4,3,[],[],8,0,20235,"",0,0],[98653,"Lens position anomaly",4,10,[],[],8,0,20236,"",0,0],[98655,"Lens shape anomaly",4,3,[],[],8,0,20237,"",0,0],[98658,"Color-vision disease",4,10,[],[],8,0,1703,"",0,0],[98668,"Vitreoretinopathy",4,10,[],[],8,0,20246,"",0,0],[98671,"Hereditary optic neuropathy",4,10,[],[],8,0,20249,"",0,0],[98672,"Autosomal dominant optic atrophy",3,10,[1],[2],2,0,20250,"",1,0],[98673,"Autosomal dominant optic atrophy, classic form",0,10,[1],[2,5,6],2,3,8134,"PPIB OPA1 DNM1L",1,0],[98676,"Autosomal recessive isolated optic atrophy",0,10,[0],[0,1,2],5,5,14753,"ACO2 RTN4IP1 MECR YME1L1 MCAT",0,0],[98681,"Rare disorder with strabismus",4,10,[],[],8,0,20251,"",0,0],[98683,"Syndromic disorder with strabismus",4,10,[],[],8,0,20253,"",0,0],[98684,"Craniostenosis with strabismus",4,10,[],[],8,0,20254,"",0,0],[98685,"Rare oculomotor nerve disorder",4,10,[],[],8,0,1309,"",0,0],[98686,"Congenital trochlear nerve palsy",0,10,[2],[0],8,0,20256,"",0,0],[98687,"Supranuclear eye movement disorder",4,10,[],[],8,0,20257,"",0,0],[98688,"Oculomotor apraxia",4,10,[],[],8,0,20258,"",0,0],[98706,"Oculocutaneous or ocular albinism",4,10,[],[],8,0,20275,"",0,0],[98715,"Uveitis",4,10,[],[],8,0,20283,"",0,0],[98716,"Heart position anomaly",4,3,[],[],8,0,20284,"",0,0],[98717,"Transposition of the great arteries and conotruncal cardiac anomaly",4,3,[],[],8,0,20285,"",0,0],[98718,"Aortic malformation",4,3,[],[],8,0,20286,"",0,0],[98719,"Pulmonary artery or pulmonary branch anomaly",4,3,[],[],8,0,20287,"",0,0],[98720,"Atrioventricular valve anomaly",4,3,[],[],8,0,20288,"",0,0],[98721,"Congenital tricuspid malformation",4,3,[],[],8,0,20289,"",0,0],[98722,"Atrioventricular septal defect",3,3,[],[],8,0,20290,"",0,0],[98723,"Hypoplastic right heart syndrome",3,3,[],[0],3,0,20291,"",0,0],[98724,"Congenital anomaly of the great arteries",4,3,[],[],8,0,20292,"",0,0],[98725,"Ascending aorta anomaly",4,3,[],[],8,0,20293,"",0,0],[98727,"Rare atrial defect and interatrial communication",4,3,[],[],8,0,20294,"",0,0],[98729,"Congenital pulmonary veins anomaly",4,3,[],[],8,0,20295,"",0,0],[98733,"Noonan syndrome and Noonan-related syndrome",4,3,[],[],8,0,20297,"",1,0],[98737,"Genetic neurological muscular channelopathy",4,1,[],[],8,0,0,"",0,0],[98738,"Neurological muscular channelopathy due to a genetic sodium channel defect",4,1,[],[],8,0,957111,"",0,0],[98739,"Neurological muscular channelopathy due to a genetic chloride channel defect",4,1,[],[],8,0,957112,"",0,0],[98740,"Neurological muscular channelopathy due to a genetic calcium channel defect",4,1,[],[],8,0,957113,"",0,0],[98741,"Neurological muscular channelopathy due to a genetic potassium channel defect",4,1,[],[],8,0,957114,"",0,0],[98742,"Neurological muscular channelopathy due to a genetic ryanodine receptor defect",4,1,[],[],8,0,957115,"",1,0],[98743,"Genetic neurological channelopathy of the central nervous system",4,1,[],[],8,0,38261,"",0,0],[98744,"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect",4,1,[],[],8,0,0,"",0,0],[98745,"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect",4,1,[],[],8,0,0,"",0,0],[98746,"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect",4,1,[],[],8,0,0,"",0,0],[98747,"Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect",4,1,[],[],8,0,0,"",0,0],[98748,"Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect",4,1,[],[],8,0,0,"",0,0],[98749,"Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect",4,1,[],[],8,0,0,"",0,0],[98750,"Autoimmune neurological channelopathy",4,1,[],[],8,0,38268,"",0,0],[98754,"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15",7,3,[2],[5,6],8,4,20298,"SNRPN MAGEL2 NDN OCA2",0,0],[98755,"Spinocerebellar ataxia type 1",0,1,[1],[3],3,1,8119,"ATXN1",1,0],[98756,"Spinocerebellar ataxia type 2",0,1,[1],[3],3,1,8458,"ATXN2",1,0],[98757,"Spinocerebellar ataxia type 3",0,1,[1],[2,6],3,0,7182,"",1,0],[98758,"Spinocerebellar ataxia type 6",0,1,[1],[5,6,7],4,1,8457,"CACNA1A",1,0],[98759,"Spinocerebellar ataxia type 17",0,1,[1],[3],5,1,11781,"TBP",1,0],[98760,"Spinocerebellar ataxia type 8",0,1,[1],[6],8,2,12116,"ATXN8 ATXN8OS",2,0],[98761,"Spinocerebellar ataxia type 10",0,1,[1],[6],8,1,11330,"ATXN10",1,0],[98762,"Spinocerebellar ataxia type 12",0,1,[1],[3],5,1,11439,"PPP2R2B",1,0],[98763,"Spinocerebellar ataxia type 14",0,1,[1],[2,5,6,7],5,1,11540,"PRKCG",1,0],[98764,"Spinocerebellar ataxia type 27A",0,1,[1],[5,6],5,1,12247,"FGF14",1,0],[98765,"Spinocerebellar ataxia type 4",0,1,[1],[6],8,1,10847,"PLEKHG4",1,0],[98766,"Spinocerebellar ataxia type 5",0,1,[1],[2,5,6,7],5,1,10848,"SPTBN2",1,0],[98767,"Spinocerebellar ataxia type 11",0,1,[1],[2,5,6,7],5,1,11464,"TTBK2",1,0],[98768,"Spinocerebellar ataxia type 13",0,1,[1],[6],5,1,11529,"KCNC3",1,0],[98769,"Spinocerebellar ataxia type 15/16",0,1,[1],[6,7],5,1,11694,"ITPR1",1,0],[98771,"Spinocerebellar ataxia type 18",0,1,[1],[6],5,1,11834,"IFRD1",0,0],[98772,"Spinocerebellar ataxia type 19/22",0,1,[1],[6],5,1,11819,"KCND3",1,0],[98773,"Spinocerebellar ataxia type 21",0,1,[1],[5],5,1,11833,"TMEM240",1,0],[98784,"Sleep-related hypermotor epilepsy",0,1,[1],[2,5,6],6,7,20300,"CABP4 CHRNA4 CHRNA2 CHRNB2 KCNT1 DEPDC5 CRH",2,0],[98791,"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16",1,3,[2,4],[0,1],5,2,7716,"HBA2 HBA1",0,0],[98793,"Prader-Willi syndrome due to paternal 15q11q13 deletion",7,3,[1],[4,0],8,0,20301,"",0,0],[98794,"Angelman syndrome due to maternal 15q11q13 deletion",7,3,[],[1],8,2,20302,"UBE3A OCA2",0,0],[98795,"Angelman syndrome due to paternal uniparental disomy of chromosome 15",7,3,[],[1],8,1,20303,"UBE3A",0,0],[98797,"Isochromosomy Yp syndrome",1,3,[],[5,6],8,0,20304,"",0,0],[98798,"Isochromosomy Yq syndrome",1,3,[],[5,6],8,0,20305,"",0,0],[98805,"Primary dystonia, DYT4 type",0,1,[1],[5,6],5,1,7493,"TUBB4A",1,0],[98806,"Primary dystonia, DYT6 type",0,1,[1],[2,5,6],5,1,11264,"THAP1",1,0],[98807,"Primary dystonia, DYT13 type",0,1,[1],[2,5],5,1,11886,"DYT13",0,0],[98808,"Autosomal dominant dopa-responsive dystonia",0,1,[1,2],[2],4,3,971063,"GCH1 NR4A2 IMPDH2",0,0],[98809,"Paroxysmal kinesigenic dyskinesia",0,1,[1,2],[1,2,5,6],4,3,44202,"KCNA1 KCNJ10 PRRT2",1,0],[98810,"Paroxysmal non-kinesigenic dyskinesia",0,1,[1,2],[1,2,5,6],4,2,700088,"PNKD PRRT2",0,0],[98811,"Paroxysmal exertion-induced dyskinesia",0,1,[1,2],[1,2,5,6],5,2,12805,"SLC2A1 PRRT2",1,0],[98813,"Hypohidrotic ectodermal dysplasia with immunodeficiency",0,3,[1,5],[0,1],4,2,10293,"IKBKG NFKBIA",0,0],[98815,"Self-limited epilepsy with autonomic seizures",0,1,[],[],4,0,20307,"",0,0],[98816,"Childhood occipital visual epilepsy",0,1,[],[],8,0,20308,"",0,0],[98818,"Landau-Kleffner syndrome",0,1,[1,4],[2],4,1,9509,"GRIN2A",1,0],[98819,"Familial temporal lobe epilepsy",0,1,[],[],8,0,5115,"",0,0],[98820,"Familial focal epilepsy with variable foci",0,1,[1],[1,2,5,6],5,4,20310,"DEPDC5 NPRL2 NPRL3 SCN3A",1,0],[98823,"Chronic myelomonocytic leukemia",0,11,[2],[6],4,3,20311,"ETV6 ASXL1 SRSF2",0,0],[98824,"Atypical chronic myeloid leukemia",0,11,[2],[6],5,1,4653,"CSF3R",0,0],[98825,"Unclassified myelodysplastic/myeloproliferative disease",0,11,[],[],8,0,20313,"",0,0],[98826,"Myelodysplastic neoplasm with low blasts",0,11,[2],[1,2,5,6,7],6,1,5272,"TET2",0,0],[98827,"Unclassified myelodysplastic syndrome",0,11,[2],[3],6,0,20315,"",0,0],[98829,"Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)",0,11,[],[6],5,4,20316,"KIT MYH11 FLT3 CBFB",0,0],[98831,"Acute myeloid leukemia with 11q23 abnormalities",0,11,[],[2],5,1,20317,"KMT2A",0,0],[98832,"Acute myeloid leukemia with minimal differentiation",0,11,[2],[6],5,1,5223,"FLT3",0,0],[98833,"Acute myeloblastic leukemia without maturation",0,11,[2],[6],5,2,5224,"FLT3 NPM1",0,0],[98834,"Acute myeloblastic leukemia with maturation",0,11,[2],[3],5,3,20320,"KIT FLT3 NPM1",0,0],[98835,"Acute undifferentiated leukemia",0,11,[],[],8,1,20321,"KMT2A",0,0],[98838,"Primary mediastinal large B-cell lymphoma",0,11,[3,2],[6],3,2,20323,"BCL6 XPO1",0,0],[98839,"Intravascular large B-cell lymphoma",0,11,[2],[],8,2,20324,"BCL2 BCL6",0,0],[98841,"Anaplastic large cell lymphoma",0,11,[2],[3],3,0,20325,"",0,0],[98842,"Lymphomatoid papulosis",0,11,[],[3],8,2,20326,"TYK2 NPM1",0,0],[98843,"Classic Hodgkin lymphoma, nodular sclerosis type",10,11,[],[6],3,1,4665,"KLHDC8B",0,0],[98844,"Classic Hodgkin lymphoma, mixed cellularity type",10,11,[],[6],4,0,4633,"",0,0],[98845,"Classic Hodgkin lymphoma, lymphocyte-rich type",10,11,[],[6],4,0,4604,"",0,0],[98846,"Classic Hodgkin lymphoma, lymphocyte-depleted type",10,11,[],[6],5,0,4620,"",0,0],[98848,"Indolent systemic mastocytosis",0,11,[2],[6,7],2,0,20331,"",0,0],[98849,"Systemic mastocytosis with associated hematologic neoplasm",0,11,[2],[6,7],3,4,20332,"KIT TET2 ASXL1 SRSF2",0,0],[98850,"Aggressive systemic mastocytosis",0,11,[2],[4,0,6,7],4,5,20333,"RUNX1 CBL TET2 ASXL1 SRSF2",0,0],[98851,"Mast cell leukemia",0,11,[2],[3],5,0,20334,"",0,0],[98852,"Desquamative interstitial pneumonia",0,9,[],[],8,0,9887,"",0,0],[98853,"Autosomal dominant Emery-Dreifuss muscular dystrophy",7,1,[1],[2],8,4,20336,"LMNA SYNE1 TMEM43 SYNE2",0,0],[98855,"Autosomal recessive Emery-Dreifuss muscular dystrophy",7,1,[0],[2],8,1,14676,"LMNA",1,0],[98856,"Charcot-Marie-Tooth disease type 2B1",0,1,[0],[2],8,1,11569,"LMNA",1,0],[98863,"X-linked Emery-Dreifuss muscular dystrophy",7,1,[5],[2],4,2,10680,"EMD FHL1",1,0],[98868,"Southeast Asian ovalocytosis",0,4,[1],[3],8,1,8165,"SLC4A1",1,0],[98869,"Congenital dyserythropoietic anemia type I",0,4,[0],[0,1,2,5,6],5,2,20337,"CDAN1 CDIN1",0,0],[98870,"Congenital dyserythropoietic anemia type III",0,4,[1,0],[3],5,2,7109,"KIF23 RACGAP1",1,0],[98871,"Transient erythroblastopenia of childhood",0,4,[],[1,2],8,0,9197,"",0,0],[98872,"Primary acquired pure red cell aplasia",0,4,[],[],8,0,20338,"",0,0],[98873,"Congenital dyserythropoietic anemia type II",0,4,[0],[0,1,2,5,6,7],7,1,9134,"SEC23B",1,0],[98878,"Hemophilia A",0,4,[5],[0,1,2],3,0,10602,"",1,0],[98879,"Hemophilia B",0,4,[5],[0,1,2],3,0,10604,"",1,0],[98880,"Familial afibrinogenemia",2,4,[0],[0,1],8,3,8737,"FGA FGB FGG",3,0],[98881,"Familial dysfibrinogenemia",2,4,[1],[3],8,3,14452,"FGA FGB FGG",2,0],[98885,"Bleeding diathesis due to glycoprotein VI deficiency",7,4,[0],[],8,1,13623,"GP6",1,0],[98886,"Bleeding diathesis due to integrin alpha2-beta1 deficiency",7,4,[1],[],8,0,13622,"",1,0],[98888,"X-linked complex spastic paraplegia",3,1,[],[],8,0,20339,"",0,0],[98889,"Bilateral perisylvian polymicrogyria",2,3,[0],[4,0,1],8,3,20340,"SRPX2 ADGRG1 PI4KA",0,0],[98890,"Early-onset X-linked optic atrophy",0,3,[5],[2],5,1,10698,"OPA2",0,0],[98892,"Periventricular nodular heterotopia",2,3,[1,0,7],[2],8,7,20341,"TMTC3 ARFGEF2 FLNA ERMARD NEDD4L MAP1B ARF1",3,0],[98893,"Congenital muscular dystrophy type 1B",0,1,[0],[0,1],5,0,11486,"",0,0],[98895,"Becker muscular dystrophy",0,1,[5],[2,5,6,7],3,1,10311,"DMD",1,0],[98896,"Duchenne muscular dystrophy",0,1,[5],[2],3,2,10679,"DMD LTBP4",1,0],[98897,"Oculopharyngodistal myopathy",0,1,[1,0],[2,5,6],8,6,25193,"NOTCH2NLC GIPC1 RILPL1 LRP12 ABCD3 NUTM2B-AS1",0,0],[98902,"Amish nemaline myopathy",0,1,[0],[0],0,1,11539,"TNNT1",1,0],[98904,"Congenital myopathy with excess of thin filaments",0,1,[1],[],8,1,8070,"ACTA1",1,0],[98905,"Congenital multicore myopathy with external ophthalmoplegia",2,1,[0],[0,1],8,1,9712,"RYR1",1,0],[98907,"Neutral lipid storage disease with ichthyosis",0,5,[0],[0,1],8,1,10155,"ABHD5",1,0],[98908,"Neutral lipid storage disease with myopathy",0,1,[0],[6],5,1,12545,"PNPLA2",1,0],[98909,"Desminopathy",0,1,[1,0],[1,2,5,6],6,1,11076,"DES",1,0],[98910,"Alpha-crystallinopathy",3,1,[],[],8,0,20343,"",0,0],[98911,"Distal myotilinopathy",0,1,[1],[6,7],3,1,12215,"MYOT",1,0],[98912,"Late-onset distal myopathy, Markesbery-Griggs type",0,1,[1],[6],5,1,12277,"LDB3",1,0],[98913,"Postsynaptic congenital myasthenic syndrome",7,1,[0],[0,1],8,0,20344,"",0,0],[98914,"Presynaptic congenital myasthenic syndrome",7,1,[1,0],[0,1],8,0,700466,"",0,0],[98915,"Synaptic congenital myasthenic syndrome",7,1,[0],[0,1],8,3,11281,"COLQ LAMB2 COL13A1",1,0],[98916,"Acute inflammatory demyelinating polyradiculoneuropathy",0,1,[3,2],[3],3,1,20347,"PMP22",0,0],[98917,"Acute motor and sensory axonal neuropathy",0,1,[3,2],[3],8,0,20348,"",0,0],[98918,"Acute motor axonal neuropathy",0,1,[3,2],[3],8,0,20349,"",0,0],[98919,"Miller Fisher syndrome",0,1,[3,2],[3],4,0,5851,"",0,0],[98920,"Spinal muscular atrophy with respiratory distress type 1",0,1,[0],[0,1],5,1,11436,"IGHMBP2",1,0],[98922,"Blake pouch cyst",6,1,[],[4],5,0,20351,"",0,0],[98933,"Multiple system atrophy, parkinsonian type",2,1,[2],[6],8,1,20352,"COQ2",0,0],[98934,"Huntington disease-like 2",0,1,[1],[6],5,1,11671,"JPH3",1,0],[98938,"Isolated colobomatous microphthalmia",1,3,[1,0],[4,0],2,13,170,"SIX6 SOX2 OTX2 STRA6 PORCN VSX2 RAX GDF6 GDF3 ABCB6 TENM3 ALDH1A3 RBP4",1,0],[98942,"Coloboma of choroid and retina",6,3,[1],[],8,5,20354,"PAX6 ACTG1 ABCB6 SALL2 FZD5",0,0],[98943,"Coloboma of eye lens",6,3,[],[0,1],4,4,20355,"PAX6 ABCB6 SALL2 FZD5",0,0],[98944,"Coloboma of iris",6,3,[],[4],3,5,20356,"PAX6 ACTG1 ABCB6 SALL2 FZD5",0,0],[98945,"Coloboma of macula",6,3,[],[4],3,4,7351,"PAX6 ABCB6 SALL2 FZD5",0,0],[98946,"Coloboma of eyelid",6,3,[],[],8,4,20357,"PAX6 ABCB6 SALL2 FZD5",0,0],[98947,"Coloboma of optic disc",6,3,[],[4],3,4,7354,"PAX6 ABCB6 SALL2 FZD5",0,0],[98948,"Congenital symblepharon",2,3,[],[4,0],5,0,20359,"",0,0],[98949,"Complete cryptophthalmia",2,3,[],[4,0],5,1,20360,"FREM2",0,0],[98950,"Partial cryptophthalmia",2,3,[],[4,0],5,0,20361,"",0,0],[98951,"Inverse Marcus-Gunn phenomenon",2,10,[],[],8,0,20362,"",0,0],[98954,"Meesmann corneal dystrophy",0,10,[1],[2],5,2,7379,"KRT12 KRT3",0,0],[98955,"Lisch epithelial corneal dystrophy",0,10,[7],[2],5,0,10425,"",1,0],[98956,"Epithelial basement membrane dystrophy",0,10,[1],[],8,1,7375,"TGFBI",0,0],[98957,"Gelatinous drop-like corneal dystrophy",0,10,[0],[2],4,1,8777,"TACSTD2",1,0],[98958,"Climatic droplet keratopathy",0,10,[],[],8,0,20363,"",0,0],[98959,"Subepithelial mucinous corneal dystrophy",0,10,[1],[2],5,0,13026,"",0,0],[98960,"Thiel-Behnke corneal dystrophy",0,10,[1],[2,5,6],6,1,11185,"TGFBI",1,0],[98961,"Reis-Bücklers corneal dystrophy",0,10,[1],[2],5,1,12043,"TGFBI",1,0],[98962,"Granular corneal dystrophy type I",0,10,[1],[2],8,1,7377,"TGFBI",1,0],[98963,"Granular corneal dystrophy type II",0,10,[1],[2],8,1,11855,"TGFBI",1,0],[98964,"Lattice corneal dystrophy type I",0,10,[1],[3],6,1,7380,"TGFBI",1,0],[98967,"Schnyder corneal dystrophy",0,10,[1],[3],5,1,7374,"UBIAD1",1,0],[98969,"Macular corneal dystrophy",0,10,[0],[3],8,1,9020,"CHST6",1,0],[98970,"Fleck corneal dystrophy",0,10,[1],[3],5,1,7376,"PIKFYVE",1,0],[98971,"Posterior amorphous corneal dystrophy",0,10,[1],[0,1],5,0,13027,"",0,0],[98972,"Central cloudy dystrophy of François",0,10,[1],[2],5,0,9018,"",0,0],[98973,"Posterior polymorphous corneal dystrophy",0,10,[1],[2],3,5,20364,"VSX1 ZEB1 COL8A2 GRHL2 OVOL2",1,0],[98974,"Fuchs endothelial corneal dystrophy",0,10,[1,3,2],[6],8,5,5321,"SLC4A11 ZEB1 COL8A2 TCF4 AGBL1",0,0],[98976,"Congenital glaucoma",0,10,[1,0,2],[0,1],3,4,9277,"MYOC LTBP2 TEK CYP1B1",1,0],[98977,"Juvenile glaucoma",0,10,[1],[2,5],3,3,20367,"CYP1B1 EFEMP1 MYOC",2,0],[98978,"Axenfeld anomaly",6,3,[1],[0,1,2],4,2,20368,"PITX2 FOXC1",0,0],[98979,"Chandler syndrome",2,10,[],[],8,0,20369,"",0,0],[98980,"Cogan-Reese syndrome",2,10,[],[],8,0,20370,"",0,0],[98981,"Essential iris atrophy",2,10,[],[],8,0,20371,"",0,0],[98984,"Pulverulent cataract",2,10,[1,0],[0,1],8,9,11430,"BFSP2 CRYBB2 CRYGC CRYGD GJA3 GJA8 CRYBB1 MAF VIM",0,0],[98985,"Early-onset sutural cataract",2,10,[1],[0,1],8,6,20372,"BFSP2 CRYBA1 CRYBB2 GJA8 MIP CRYGS",0,0],[98988,"Early-onset anterior polar cataract",2,10,[1],[0,1],8,4,20373,"CRYAA CRYBB3 CRYGB CRYBA2",0,0],[98989,"Cerulean cataract",2,10,[1],[2],8,4,20374,"CRYBB2 CRYGD MIP MAF",0,0],[98990,"Coralliform cataract",2,10,[1],[0,1],8,1,7282,"CRYGD",0,0],[98991,"Early-onset nuclear cataract",2,10,[1,0,5],[0,1],8,18,20376,"WFS1 CRYAA CRYAB CRYBA1 CRYBB2 CRYBB3 CRYGC CRYGD GJA3 GJA8 MIP CRYBB1 NHS BFSP1 EPHA2 FYCO1 UNC45B CRYBA2",0,0],[98992,"Early-onset partial cataract",2,10,[1,0,5],[0,1],8,0,20377,"",0,0],[98993,"Early-onset posterior polar cataract",2,10,[1],[0,1],8,8,20378,"PITX3 CRYAB CRYBA1 GJA3 MIP CHMP4B EPHA2 PANK4",0,0],[98994,"Total early-onset cataract",2,10,[1,0],[0,1],8,17,21548,"CRYAA CRYBB2 GJA8 HSF4 MIP NHS LIM2 EPHA2 FYCO1 AGK CRYGB GCNT2 LSS SIPA1L3 LEMD2 PGRMC1 DNMBP",0,0],[98995,"Early-onset zonular cataract",2,10,[1,0,5],[0,1],8,0,20379,"",0,0],[99000,"Adult-onset foveomacular vitelliform dystrophy",0,10,[1,2],[6],8,4,11979,"PRPH2 BEST1 IMPG2 IMPG1",0,0],[99001,"Butterfly-shaped pigment dystrophy",0,10,[1],[6],5,3,100466,"PRPH2 OTX2 CTNNA1",0,0],[99002,"Reticular dystrophy of the retinal pigment epithelium",0,10,[0,4],[6],5,1,9979,"RCBTB1",0,0],[99003,"Multifocal pattern dystrophy simulating fundus flavimaculatus",0,10,[1],[6],6,1,20382,"PRPH2",0,0],[99004,"Fundus pulverulentus",0,10,[],[6],5,0,20383,"",0,0],[99013,"Spastic paraplegia type 7",0,1,[1,0],[2,5,6,7],6,1,11803,"SPG7",1,0],[99014,"X-linked Charcot-Marie-Tooth disease type 5",0,3,[5],[1,2],5,1,10699,"PRPS1",1,0],[99015,"Spastic paraplegia type 2",0,1,[5],[2],5,1,10733,"PLP1",1,0],[99027,"Adult-onset autosomal dominant leukodystrophy",0,1,[1],[6],7,1,8215,"LMNB1",1,0],[99042,"Congenitally uncorrected transposition of the great arteries with coarctation",2,3,[3,2],[0,1],8,1,20385,"CFC1",0,0],[99043,"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis",2,3,[3],[],8,0,20386,"",0,0],[99045,"Double outlet right ventricle with subpulmonary ventricular septal defect",2,3,[3],[],8,0,20387,"",0,0],[99046,"Double outlet right ventricle with non-committed subpulmonary ventricular septal defect",2,3,[3],[],8,0,20388,"",0,0],[99048,"Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome",1,3,[],[4,0],6,0,20389,"",0,0],[99049,"Pulmonary artery coming from patent ductus arteriosus",6,3,[],[],8,0,20390,"",0,0],[99050,"Abnormal origin of right or left pulmonary artery from the aorta",6,3,[],[0,1],6,0,20391,"",0,0],[99051,"Discrete fixed membranous subaortic stenosis",2,3,[],[],8,0,20392,"",0,0],[99052,"Discrete fibromuscular subaortic stenosis",2,3,[],[],8,0,20393,"",0,0],[99053,"Tunnel subaortic stenosis",2,3,[],[],8,0,20394,"",0,0],[99054,"Valvular pulmonary stenosis",2,3,[],[],8,0,20395,"",0,0],[99055,"Congenital anomaly of the tricuspid valve chordae",6,3,[],[],8,0,20396,"",0,0],[99056,"Parachute tricuspid valve",6,3,[],[0,1,5,6],5,0,20397,"",0,0],[99057,"Congenital mitral stenosis",6,3,[],[],8,0,20398,"",0,0],[99058,"Hypoplasia of the mitral valve annulus",6,3,[],[],8,0,20399,"",0,0],[99059,"Congenital supravalvular mitral ring",6,3,[],[],8,0,20400,"",0,0],[99060,"Congenital unguarded mitral orifice",6,3,[],[],8,0,20401,"",0,0],[99061,"Accessory mitral valve tissue",6,3,[],[],8,0,20402,"",0,0],[99062,"Mitral valve agenesis",6,3,[],[],8,0,20403,"",0,0],[99063,"Shone complex",1,3,[],[0,1,2,6],5,0,20404,"",0,0],[99064,"Straddling and/or overriding mitral valve",2,3,[],[],8,0,20405,"",0,0],[99067,"Complete atrioventricular septal defect with ventricular hypoplasia",2,3,[1],[],8,4,20407,"CRELD1 GATA4 GATA6 NR2F2",0,0],[99068,"Complete atrioventricular septal defect-tetralogy of Fallot",2,3,[1,2],[],8,3,20408,"CRELD1 GATA4 NR2F2",0,0],[99070,"Aorto-right ventricular tunnel",2,3,[],[],8,0,20410,"",0,0],[99071,"Aorto-left ventricular tunnel",2,3,[],[],8,0,20411,"",0,0],[99072,"Congenital patent ductus arteriosus aneurysm",6,3,[],[],8,0,20412,"",0,0],[99075,"Encircling double aortic arch",6,3,[],[],8,0,20413,"",0,0],[99076,"Persistent fifth aortic arch",6,3,[],[],8,0,20414,"",0,0],[99077,"Kommerell diverticulum",6,3,[2],[],8,0,20415,"",0,0],[99078,"Neuhauser anomaly",6,3,[],[],8,0,20416,"",0,0],[99079,"Cervical aortic arch",6,3,[],[],8,0,17991,"",0,0],[99081,"Right aortic arch",6,3,[],[],8,0,20417,"",0,0],[99082,"Dysphagia lusoria",6,3,[],[],8,0,20418,"",0,0],[99083,"Pulmonary artery hypoplasia",6,3,[],[1,2,5],4,0,20419,"",0,0],[99084,"Peripheral pulmonary stenosis",6,3,[],[],8,0,20420,"",0,0],[99087,"Coronary ostial stenosis or atresia",6,3,[],[],8,0,20423,"",0,0],[99089,"Abnormal number of coronary ostia",6,3,[],[],8,0,20425,"",0,0],[99090,"Malposition of a coronary ostium",6,3,[],[],8,0,20426,"",0,0],[99092,"Interventricular septum aneurysm",6,3,[],[],8,0,7112,"",0,0],[99094,"Laubry-Pezzi syndrome",6,3,[],[0,1],8,0,20427,"",0,0],[99095,"Congenital Gerbode defect",6,3,[],[0,1],8,0,20428,"",0,0],[99098,"Cor triatriatum dexter",6,3,[],[1,2,6],6,0,20429,"",0,0],[99099,"Cor triatriatum sinister",6,3,[],[1,2,6],6,0,20430,"",0,0],[99100,"Juxtaposition of the atrial appendages",6,3,[],[],8,0,20431,"",0,0],[99101,"Ectasia of the right atrial appendage",6,3,[],[],8,0,20432,"",0,0],[99102,"Ectasia of the left atrial appendage",6,3,[],[],8,0,20433,"",0,0],[99103,"Atrial septal defect, ostium secundum type",2,3,[1,2],[4,0,1],8,9,20434,"ACTC1 GATA4 MYH6 NKX2-5 TBX20 TBX20 TLL1 CITED2 GATA6",0,0],[99104,"Atrial septal defect, coronary sinus type",2,3,[],[4,0,1],8,0,20435,"",0,0],[99105,"Atrial septal defect, sinus venosus type",2,3,[1,2],[4,0,1],8,1,20436,"CITED2",0,0],[99106,"Atrial septal defect, ostium primum type",2,3,[1,2],[4,0,1],8,1,20437,"TLL1",0,0],[99107,"Atrial septal aneurysm",6,3,[],[],8,0,20438,"",0,0],[99109,"Persistent left superior vena cava connecting through coronary sinus to left-sided atrium",6,3,[],[],8,0,20440,"",0,0],[99110,"Right superior vena cava connecting to left-sided atrium",6,3,[],[],8,0,20441,"",0,0],[99111,"Persistent left superior vena cava connecting to the roof of left-sided atrium",6,3,[],[],8,0,20442,"",0,0],[99112,"Absence of innominate vein",6,3,[],[],8,0,20443,"",0,0],[99113,"Subaortic course of innominate vein",6,3,[],[],8,0,20444,"",0,0],[99114,"Agenesis of the superior vena cava",6,3,[],[],8,0,20445,"",0,0],[99117,"Coronary sinus stenosis",6,3,[],[],8,0,20446,"",0,0],[99118,"Coronary sinus atresia",6,3,[],[],8,0,20447,"",0,0],[99119,"Right inferior vena cava connecting to left-sided atrium",6,3,[],[],8,0,20448,"",0,0],[99120,"Persistent eustachian valve",6,3,[],[],8,0,20449,"",0,0],[99121,"Azygos continuation of the inferior vena cava",6,3,[],[],8,0,20450,"",0,0],[99122,"Congenital stenosis of the inferior vena cava",6,3,[],[],8,0,20451,"",0,0],[99123,"Inferior vena cava interruption without azygos continuation",6,3,[],[],8,0,20452,"",0,0],[99124,"Congenital partial pulmonary venous return anomaly",6,3,[],[1,2,5,6],8,0,20453,"",0,0],[99125,"Congenital total pulmonary venous return anomaly",6,3,[2],[0],3,0,7130,"",0,0],[99126,"Congenital pulmonary vein atresia",6,3,[],[],8,0,957556,"",0,0],[99129,"Congenital complete agenesis of pericardium",6,3,[2],[],8,0,20454,"",0,0],[99130,"Congenital partial agenesis of pericardium",6,3,[2],[],8,0,20455,"",0,0],[99131,"Pleuro-pericardial cyst",6,3,[2],[],8,0,20456,"",0,0],[99135,"6-phosphogluconate dehydrogenase deficiency",0,4,[],[],8,0,20457,"",0,0],[99138,"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction",0,4,[1],[],8,0,20458,"",0,0],[99141,"Lymphedema-posterior choanal atresia syndrome",1,3,[0],[0],5,1,13324,"PTPN14",1,0],[99147,"Acquired von Willebrand syndrome",0,4,[2],[6],5,0,20460,"",0,0],[99169,"Epiblepharon",6,10,[],[],8,0,20461,"",0,0],[99170,"Tarsal kink syndrome",6,10,[],[],8,0,20462,"",0,0],[99171,"Isolated congenital ectropion",6,10,[],[],8,0,20463,"",0,0],[99172,"Euryblepharon",6,10,[4],[0],8,0,20464,"",0,0],[99176,"Congenital eyelid retraction",6,10,[],[],8,0,20465,"",0,0],[99177,"Isolated distichiasis",6,3,[],[],8,0,7464,"",0,0],[99179,"Kandori fleck retina",1,10,[],[2,5,6],8,0,9236,"",0,0],[99226,"Monosomy X syndrome",7,3,[2],[4,0,1,2],8,0,20466,"",0,0],[99228,"Mosaic monosomy X syndrome",7,3,[2],[4,0,1,2],8,0,20467,"",0,0],[99324,"Paternal uniparental disomy of chromosome 13 syndrome",1,3,[],[4,0],8,0,20468,"",0,0],[99329,"48,XYYY syndrome",1,3,[],[4,0,1],5,0,20469,"",0,0],[99330,"49,XYYYY syndrome",1,3,[],[4,0,1],5,0,20470,"",0,0],[99361,"Isolated familial medullary thyroid carcinoma",0,11,[1],[],8,3,7958,"RET NTRK1 ESR2",1,0],[99408,"Pituitary adenoma",3,15,[],[],8,0,6373,"",0,0],[99413,"Turner syndrome due to structural X chromosome anomalies",7,3,[],[4,0,1,2],8,0,20472,"",0,0],[99429,"Complete androgen insensitivity syndrome",0,3,[5],[3],8,1,21023,"AR",0,0],[99642,"Spondyloepimetaphyseal dysplasia, Handigodu type",0,0,[],[2,5,6],5,0,13233,"",0,0],[99646,"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria",0,0,[2],[0,1,2],8,1,13941,"IDH1",0,0],[99657,"Primary dystonia, DYT2 type",0,1,[0],[2],8,1,9141,"HPCA",1,0],[99672,"Fried's tooth and nail syndrome",1,3,[],[4,0,1],5,0,11219,"",0,0],[99688,"Dermotrichic syndrome",1,3,[],[0],5,0,20475,"",0,0],[99701,"Mesial temporal lobe epilepsy with hippocampal sclerosis",0,1,[],[1,2,5,6,7],8,0,20476,"",0,0],[99704,"Early-onset obesity-hyperphagia-severe developmental delay syndrome",0,3,[1],[],8,1,850115,"NTRK2",1,0],[99710,"Punctate acrokeratoderma freckle-like pigmentation",0,5,[],[2],5,0,36918,"",0,0],[99718,"Leber plus disease",0,10,[6],[1,2,5,6],5,3,20478,"MT-ND3 MT-ND4 MT-ND6",0,0],[99725,"Pituitary gigantism",0,15,[1,7],[1,2,5],6,2,20479,"MEN1 AIP",0,0],[99731,"Isolated sulfite oxidase deficiency",2,2,[0],[0,1],5,1,10089,"SUOX",1,0],[99732,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency",2,2,[],[],8,0,20480,"",1,0],[99734,"Myotonia fluctuans",0,1,[1],[2],8,1,20481,"SCN4A",0,0],[99735,"Myotonia permanens",0,1,[1],[2],8,1,20482,"SCN4A",0,0],[99736,"Acetazolamide-responsive myotonia",0,1,[1],[2],8,1,20483,"SCN4A",0,0],[99739,"Rare familial disorder with hypertrophic cardiomyopathy",4,7,[1],[],8,0,20484,"",0,0],[99741,"King-Denborough syndrome",1,3,[1],[4,0,1],5,1,20485,"RYR1",0,0],[99742,"Amish lethal microcephaly",1,3,[0],[4,0,1],5,1,11790,"SLC25A19",1,0],[99745,"Typhoid",0,8,[2],[3],3,0,5619,"",0,0],[99748,"Pontiac fever",0,8,[2],[3],8,0,20487,"",0,0],[99749,"Kostmann syndrome",0,16,[0],[0],5,1,12548,"HAX1",1,0],[99750,"Atypical progressive supranuclear palsy syndrome",2,1,[],[6,7],3,0,20488,"",0,0],[99756,"Alveolar rhabdomyosarcoma",2,11,[3],[],5,5,9994,"TP53 FOXO1 NF1 PAX3 PAX7",0,0],[99757,"Embryonal rhabdomyosarcoma",2,11,[3],[],5,4,9993,"TP53 NF1 DICER1 SLC67A1",0,0],[99771,"Bifid uvula",6,3,[3,2],[0,1],8,2,8637,"GRHL3 UBB",0,0],[99772,"Cleft velum",6,3,[3,2],[0,1],8,2,7338,"GRHL3 UBB",1,0],[99776,"Mosaic trisomy 9 syndrome",1,3,[],[0,1],5,0,20490,"",0,0],[99789,"Dentin dysplasia type I",2,6,[1,0],[2],3,2,7436,"VPS4B SSUH2",1,0],[99791,"Dentin dysplasia type II",2,6,[1],[],5,1,7437,"DSPP",0,0],[99792,"Dentin dysplasia-sclerotic bones syndrome",0,6,[],[1],5,0,7438,"",0,0],[99796,"Subcortical band heterotopia",6,3,[0,4,5],[],8,3,20491,"DCX PAFAH1B1 EML1",1,0],[99797,"Anodontia",6,6,[],[],8,0,8797,"",0,0],[99798,"Oligodontia",6,6,[1,0,5],[2],8,12,5486,"EDA EDARADD FGFR1 IRF6 WNT10A MSX1 PAX9 SUMO1 TGFA LRP6 WNT10B GREM2",1,0],[99802,"Hemimegalencephaly",1,3,[2],[1],6,3,20492,"PIK3CA AKT3 MTOR",0,0],[99803,"Haddad syndrome",1,1,[1,3],[0,1],5,3,20493,"PHOX2B RET ASCL1",1,0],[99806,"Oculootodental syndrome",1,3,[],[1],5,2,20494,"FGF3 FADD",0,0],[99807,"PEHO-like syndrome",0,1,[0],[0,1],5,1,20495,"CCDC88A",1,0],[99810,"Familial porencephaly",7,3,[1],[0,1],8,3,20496,"COL4A1 COL4A2 COLGALT1",0,0],[99811,"Neuronal intestinal pseudoobstruction",7,12,[5],[3],8,1,8000011,"FLNA",1,0],[99812,"LIG4 syndrome",0,16,[0],[0,1],5,1,11686,"LIG4",1,0],[99819,"Familial gestational hyperthyroidism",0,15,[1],[5,6],8,1,11309,"TSHR",1,0],[99824,"Lassa fever",0,8,[],[3],5,0,5820,"",0,0],[99825,"Nipah virus disease",0,8,[],[3],5,0,20499,"",0,0],[99826,"Marburg hemorrhagic fever",0,8,[],[3],5,0,20500,"",0,0],[99827,"Crimean-Congo hemorrhagic fever",0,8,[],[3],5,0,20501,"",0,0],[99828,"Dengue fever",0,8,[2],[3],0,0,5502,"",0,0],[99829,"Yellow fever",0,8,[],[3],5,0,20502,"",0,0],[99832,"Resistance to thyrotropin-releasing hormone syndrome",0,15,[0],[1],5,1,32819,"TRHR",1,0],[99842,"Leukocyte adhesion deficiency type I",2,16,[0],[1,2],4,1,7293,"ITGB2",1,0],[99843,"Leukocyte adhesion deficiency type II",2,16,[0],[1,2],5,1,9953,"SLC35C1",1,0],[99844,"Leukocyte adhesion deficiency type III",2,16,[0],[1,2],5,1,13016,"FERMT3",1,0],[99845,"Genetic recurrent myoglobinuria",0,2,[1,0,2],[2],8,4,20504,"MT-CO1 MT-CO3 LPIN1 OBSCN",0,0],[99846,"Autosomal dominant myoglobinuria",0,1,[1],[8],5,0,8046,"",0,0],[99849,"Glycogen storage disease due to muscle beta-enolase deficiency",0,2,[0],[6],5,1,13046,"ENO3",1,0],[99852,"Ravine syndrome",0,1,[0],[1],5,1,20505,"SLC7A2-IT1",0,0],[99853,"Ovarioleukodystrophy",2,1,[0],[2,5,6],5,6,20506,"EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 AARS2",0,0],[99854,"Cree leukoencephalopathy",2,1,[0],[],8,5,20507,"EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5",5,0],[99856,"Primary syringomyelia",6,3,[],[],8,0,20508,"",0,0],[99857,"Secondary syringomyelia",0,1,[],[6],8,0,20509,"",0,0],[99858,"Idiopathic syringomyelia",2,1,[],[],8,0,20510,"",0,0],[99860,"Precursor B-cell acute lymphoblastic leukemia",0,11,[2],[2],8,0,20511,"",0,0],[99861,"Precursor T-cell acute lymphoblastic leukemia",0,11,[2],[5,6],8,22,20512,"ABL1 BCR CDKN2A TAL1 FLT3 MYC NUP214 STIL MYB TRB TRA TRD TCL1A TLX1 TLX3 CNOT3 MLLT10 DDX3X PICALM ZBTB16 SALL2 SET",0,0],[99865,"Spermatocytic seminoma",0,11,[4],[5,6],5,0,20513,"",0,0],[99867,"Thymoma",0,11,[2],[6],4,0,6456,"",0,0],[99868,"Thymic carcinoma",0,11,[2],[6],6,0,6451,"",0,0],[99869,"Thymic neuroendocrine carcinoma",0,11,[2],[6],6,0,20516,"",0,0],[99879,"Familial isolated hyperparathyroidism",0,15,[1],[6],6,3,15027,"CDC73 MEN1 GCM2",0,0],[99880,"Hyperparathyroidism-jaw tumor syndrome",0,15,[1],[5,6],5,1,7768,"CDC73",1,0],[99885,"Isolated permanent neonatal diabetes mellitus",0,15,[1,0],[4,0,1],4,6,100164,"ABCC8 GCK KCNJ11 PDX1 STAT3 INS",9,0],[99886,"Transient neonatal diabetes mellitus",0,15,[1,0,2],[4,0],4,5,11073,"ABCC8 KCNJ11 HYMAI PLAGL1 ZFP57",1,0],[99887,"Acute megakaryoblastic leukemia in children with Down syndrome",2,11,[2],[2],8,1,20526,"GATA1",0,0],[99889,"Cushing syndrome due to ectopic ACTH secretion",0,15,[2],[6,7],8,0,20527,"",0,0],[99892,"ACTH-dependent Cushing syndrome",3,15,[],[],8,0,20528,"",0,0],[99898,"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency",0,16,[0],[0,1],5,1,20530,"IFNGR1",0,0],[99901,"Acyl-CoA dehydrogenase 9 deficiency",0,2,[0],[0,1,2],6,1,12624,"ACAD9",1,0],[99903,"Spirillary rat-bite fever",7,8,[],[3],8,0,20532,"",0,0],[99905,"Streptobacillary rat-bite fever",7,8,[],[3],8,0,20533,"",0,0],[99912,"Ovarian dysgerminoma",0,11,[4],[5],5,0,20538,"",0,0],[99913,"Extragonadal non-dysgerminomatous germ cell tumor",4,11,[],[],8,0,20539,"",0,0],[99914,"Gynandroblastoma",0,11,[],[],8,1,20540,"DICER1",0,0],[99915,"Malignant granulosa cell tumor of the ovary",0,11,[3],[5,6,7],4,2,20541,"FOXL2 DICER1",0,0],[99916,"Malignant Sertoli-Leydig cell tumor of the ovary",0,11,[],[2,5,6,7],5,1,20542,"DICER1",0,0],[99917,"Theca steroid-producing cell malignant tumor of ovary, not further specified",0,11,[],[6],5,0,20543,"",0,0],[99918,"Streptococcal toxic-shock syndrome",7,8,[2],[3],4,0,20544,"",0,0],[99919,"Staphylococcal toxic-shock syndrome",7,8,[2],[3],4,0,20545,"",0,0],[99920,"Acute graft versus host disease",2,16,[],[],8,0,20546,"",0,0],[99921,"Chronic graft versus host disease",2,16,[],[3],8,0,20547,"",0,0],[99922,"Ocular cicatricial pemphigoid",0,10,[],[],8,0,8109,"",0,0],[99925,"Invasive mole",0,11,[2],[6],8,0,20549,"",0,0],[99926,"Gestational choriocarcinoma",0,11,[2],[6],6,0,20550,"",0,0],[99927,"Hydatidiform mole",0,11,[0,2],[5,6],6,0,6248,"",0,0],[99928,"Placental site trophoblastic tumor",0,11,[2],[6],5,0,20552,"",0,0],[99930,"Secondary pulmonary hemosiderosis",0,9,[],[],8,0,20553,"",0,0],[99931,"Idiopathic pulmonary hemosiderosis",0,9,[],[2],5,0,8346,"",0,0],[99932,"Heiner syndrome",0,9,[],[1],5,0,20554,"",0,0],[99933,"Pleuropulmonary blastoma type 1",2,11,[],[],8,0,20555,"",0,0],[99934,"Pleuropulmonary blastoma type 2",2,11,[],[],8,0,20556,"",0,0],[99935,"Pleuropulmonary blastoma type 3",2,11,[],[],8,0,20557,"",0,0],[99936,"Autosomal dominant Charcot-Marie-Tooth disease type 2B",0,1,[1],[5,6],5,1,10949,"RAB7A",1,0],[99937,"Autosomal dominant Charcot-Marie-Tooth disease type 2C",0,1,[1],[1,2,5,6],5,1,11633,"TRPV4",1,0],[99938,"Autosomal dominant Charcot-Marie-Tooth disease type 2D",0,1,[1],[5,6],5,1,11091,"GARS1",1,0],[99939,"Autosomal dominant Charcot-Marie-Tooth disease type 2E",0,1,[1],[1,2,5,6],6,1,11894,"NEFL",0,0],[99940,"Autosomal dominant Charcot-Marie-Tooth disease type 2F",0,1,[1],[5,6,7],5,1,11687,"HSPB1",1,0],[99942,"Autosomal dominant Charcot-Marie-Tooth disease type 2I",0,1,[1],[6],5,1,11889,"MPZ",0,0],[99943,"Autosomal dominant Charcot-Marie-Tooth disease type 2J",0,1,[1],[6],8,1,11903,"MPZ",0,0],[99944,"Autosomal dominant Charcot-Marie-Tooth disease type 2K",0,1,[1],[2,5,6],5,1,20558,"GDAP1",0,0],[99945,"Autosomal dominant Charcot-Marie-Tooth disease type 2L",0,1,[1],[5,6],5,1,12096,"HSPB8",1,0],[99946,"Autosomal dominant Charcot-Marie-Tooth disease type 2A1",0,1,[1],[2],5,1,7308,"KIF1B",0,0],[99947,"Autosomal dominant Charcot-Marie-Tooth disease type 2A2",0,1,[1],[2],8,1,12231,"MFN2",1,0],[99948,"Charcot-Marie-Tooth disease type 4A",0,1,[0],[0,1],8,1,8961,"GDAP1",1,0],[99949,"Charcot-Marie-Tooth disease type 4C",0,1,[0],[2],8,1,11113,"SH3TC2",1,0],[99950,"Charcot-Marie-Tooth disease type 4D",0,1,[0],[2,5],6,1,11085,"NDRG1",1,0],[99951,"Charcot-Marie-Tooth disease type 4E",0,1,[0],[0,1],8,1,11527,"EGR2",1,0],[99952,"Charcot-Marie-Tooth disease type 4F",0,1,[0],[2],8,1,13959,"PRX",1,0],[99953,"Charcot-Marie-Tooth disease type 4G",0,1,[0],[2,5],2,1,11534,"HK1",1,0],[99954,"Charcot-Marie-Tooth disease type 4H",0,1,[0],[1],5,1,12250,"FGD4",1,0],[99955,"Charcot-Marie-Tooth disease type 4B1",0,1,[0],[0,1],5,1,11066,"MTMR2",1,0],[99956,"Charcot-Marie-Tooth disease type 4B2",0,1,[0],[2],8,1,11475,"SBF2",1,0],[99960,"Benign recurrent intrahepatic cholestasis type 1",2,17,[0],[],8,1,9469,"ATP8B1",0,0],[99961,"Benign recurrent intrahepatic cholestasis type 2",2,17,[0],[],8,1,11559,"ABCB11",1,0],[99965,"O'Sullivan-McLeod syndrome",0,1,[],[6],5,0,20559,"",0,0],[99966,"Atypical teratoid rhabdoid tumor",0,11,[2],[4,0,1,2],3,1,20560,"SMARCB1",0,0],[99967,"Myxoid/round cell liposarcoma",10,11,[2],[6],4,2,20561,"FUS DDIT3",0,0],[99969,"Pleomorphic liposarcoma",10,11,[2],[6],5,0,20562,"",0,0],[99970,"Dedifferentiated liposarcoma",10,11,[2],[6],4,3,20563,"CDK4 HMGA2 MDM2",0,0],[99971,"Well-differentiated liposarcoma",10,11,[2],[6],4,3,5103,"CDK4 HMGA2 MDM2",0,0],[99976,"Adenocarcinoma of the oesophagus and oesophagogastric junction",0,11,[2],[6,7],4,1,5028,"ERBB2",0,0],[99977,"Squamous cell carcinoma of the esophagus",0,11,[3,2],[6,7],3,4,5580,"TGFBR2 WWOX DLEC1 RNF6",0,0],[99978,"Perihilar cholangiocarcinoma",0,11,[2],[6],8,0,3345,"",0,0],[99981,"Apnea of prematurity",0,9,[2],[0,1],3,0,20567,"",0,0],[99983,"Cutaneous myiasis",4,8,[],[],8,0,20568,"",0,0],[99989,"Intermediate DEND syndrome",0,15,[1,0,2],[0,1],8,1,20569,"KCNJ11",0,0],[99990,"Brill-Zinsser disease",2,8,[],[],8,0,5680,"",0,0],[99991,"Relapsing epidemic typhus",2,8,[],[],8,0,20571,"",0,0],[100000,"Reticular perineurioma",2,1,[],[],8,0,15029,"",0,0],[100001,"Sclerosing perineurioma",2,1,[],[],8,0,15030,"",0,0],[100002,"Extraneural perineurioma",0,1,[],[1,2,5,6,7],5,0,15031,"",0,0],[100003,"Intraneural perineurioma",0,1,[],[2,5,6],5,0,15032,"",0,0],[100006,"ABeta amyloidosis, Dutch type",2,1,[1],[6],5,1,15033,"APP",0,0],[100008,"ACys amyloidosis",2,1,[1],[5,6],5,1,7098,"CST3",1,0],[100011,"Lissencephaly with cerebellar hypoplasia type A",1,3,[],[4,0],8,0,15034,"",0,0],[100012,"Lissencephaly with cerebellar hypoplasia type B",1,3,[],[4,0,1],5,0,15035,"",0,0],[100013,"Lissencephaly with cerebellar hypoplasia type C",1,3,[],[0],5,0,15036,"",0,0],[100014,"Lissencephaly with cerebellar hypoplasia type D",1,3,[],[4,0],8,0,15037,"",0,0],[100015,"Lissencephaly with cerebellar hypoplasia type E",1,3,[],[4,0],8,0,15038,"",0,0],[100016,"Lissencephaly with cerebellar hypoplasia type F",1,3,[],[4,0],8,0,15039,"",0,0],[100019,"Myelodysplastic neoplasm with increased blasts type 1",2,11,[2],[6],8,1,15040,"TET2",0,0],[100020,"Myelodysplastic neoplasm with increased blasts type 2",2,11,[2],[6],8,1,15041,"TET2",0,0],[100021,"Primary plasmacytoma of the bone",2,11,[],[],4,0,15042,"",0,0],[100022,"Extramedullary soft tissue plasmacytoma",2,11,[],[],4,0,15043,"",0,0],[100024,"Mu-heavy chain disease",2,11,[],[6],5,0,15044,"",0,0],[100025,"Alpha-heavy chain disease",2,11,[],[5,6],6,0,15045,"",0,0],[100026,"Gamma-heavy chain disease",2,11,[],[6],5,0,15046,"",0,0],[100031,"Hypoplastic amelogenesis imperfecta",2,6,[1,0,7],[],8,6,15047,"ENAM LAMB3 ITGB6 AMBN ACP4 SP6",1,0],[100032,"Hypocalcified amelogenesis imperfecta",2,6,[1,0],[],8,5,968955,"SACK1H SLC24A4 ITGB6 AMTN RELT",0,0],[100033,"Hypomaturation amelogenesis imperfecta",2,6,[0,7],[],8,7,15048,"AMELX KLK4 MMP20 WDR72 ODAPH SLC24A4 GPR68",0,0],[100034,"Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism",2,6,[1],[],8,1,7093,"DLX3",1,0],[100035,"Solitary necrotic nodule of the liver",0,17,[],[],8,0,15049,"",0,0],[100043,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type A",0,1,[1],[6],5,0,11675,"",1,0],[100044,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B",0,1,[1],[2,5,6],5,1,11674,"DNM2",1,0],[100045,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type C",0,1,[1],[2,5,6],5,1,12012,"YARS1",1,0],[100046,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D",0,1,[1],[6],5,1,11909,"MPZ",0,0],[100047,"Isolated esophageal duplication cyst",6,3,[],[],8,0,15050,"",0,0],[100048,"Isolated tubular duplication of the esophagus",6,3,[],[],8,0,15051,"",0,0],[100049,"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies",4,9,[],[],8,0,15052,"",0,0],[100050,"Hereditary angioedema type 1",7,14,[1],[3],3,1,15053,"SERPING1",0,0],[100051,"Hereditary angioedema type 2",7,14,[1],[3],6,1,15054,"SERPING1",0,0],[100054,"F12-related hereditary angioedema with normal C1Inh",2,14,[1],[6],8,1,12526,"F12",1,0],[100055,"Acquired angioedema type 2",2,14,[2],[6],8,0,15055,"",0,0],[100056,"Acquired angioedema type 1",2,14,[2],[6],8,0,15056,"",0,0],[100057,"Renin-angiotensin-aldosterone system-blocker-induced angioedema",0,14,[3,2],[6],8,1,15057,"XPNPEP2",0,0],[100067,"Waterhouse-Friderichsen syndrome",2,15,[],[],8,0,6015,"",0,0],[100069,"Semantic dementia",0,1,[3,2],[6],5,7,10857,"PSEN1 CHMP2B TREM2 MAPT GRN C9ORF72 TMEM106B",2,0],[100070,"Progressive non-fluent aphasia",0,1,[3,2],[6],3,8,15059,"PSEN1 CHMP2B TREM2 VCP MAPT GRN C9ORF72 TMEM106B",0,0],[100071,"Mosaic trisomy 3 syndrome",1,3,[],[4,0],5,0,15060,"",0,0],[100073,"Neurogenic thoracic outlet syndrome",2,29,[2],[3],8,0,15061,"",0,0],[100075,"Neuroendocrine tumor of stomach",0,11,[2],[6,7],3,1,3111,"ATRX",0,0],[100076,"Duodenal neuroendocrine tumor",4,11,[],[],8,0,15063,"",0,0],[100077,"Jejunal neuroendocrine tumor",4,11,[],[6],8,0,15064,"",0,0],[100078,"Ileal neuroendocrine tumor",0,11,[2],[6],8,0,15065,"",0,0],[100079,"Neuroendocrine neoplasm of appendix",0,11,[],[6],8,0,15066,"",0,0],[100080,"Neuroendocrine tumor of the colon",0,11,[],[6,7],8,0,2882,"",0,0],[100081,"Neuroendocrine tumor of the rectum",0,11,[],[6],8,0,3646,"",0,0],[100082,"Neuroendocrine tumor of anal canal",0,11,[],[6,7],8,0,15069,"",0,0],[100083,"Laryngeal neuroendocrine tumor",0,11,[],[6],8,0,15070,"",0,0],[100084,"Middle ear neuroendocrine tumor",0,11,[],[5,6,7],8,0,15071,"",0,0],[100085,"Primary hepatic neuroendocrine carcinoma",0,11,[2],[6],4,0,15072,"",0,0],[100086,"Gallbladder neuroendocrine tumor",0,11,[],[6],8,0,15073,"",0,0],[100087,"Rare thyroid tumor",4,11,[],[],8,0,15074,"",0,0],[100088,"Rare thyroid carcinoma",4,11,[],[6],2,0,15075,"",0,0],[100090,"Rare parathyroid tumor",4,11,[],[],8,0,15076,"",0,0],[100091,"Adrenal/paraganglial tumor",4,11,[],[],8,0,21227,"",0,0],[100092,"Gastroenteropancreatic neuroendocrine neoplasm",4,11,[],[],8,0,24503,"",0,0],[100093,"Carcinoid syndrome",9,11,[2],[3],8,1,100347,"SDHD",0,0],[100094,"Multiple polyglandular tumor",4,11,[],[],8,0,15079,"",0,0],[100100,"Thymic tumor",4,11,[],[],8,0,5197,"",0,0],[100101,"Neuroendocrine tumor with other location",4,11,[],[],8,0,15081,"",0,0],[100924,"Porphyria due to ALA dehydratase deficiency",0,2,[0],[2,5],8,1,13000,"ALAD",1,0],[100973,"FRAXE intellectual disability",0,3,[5],[4,0,1],8,2,10659,"AFF2 FMR3",1,0],[100974,"FRAXF syndrome",0,1,[4],[4,0,1],8,1,15084,"TMEM185A",0,0],[100976,"Bathing suit ichthyosis",0,5,[0],[0,1],5,1,15085,"TGM1",0,0],[100978,"Cloverleaf skull-asphyxiating thoracic dysplasia syndrome",1,3,[],[0],5,0,15086,"",0,0],[100979,"Autosomal dominant complex spastic paraplegia",3,1,[1],[],3,0,15087,"",0,0],[100980,"Autosomal dominant pure spastic paraplegia",3,1,[1],[],4,0,15088,"",0,0],[100981,"Autosomal recessive complex spastic paraplegia",3,1,[0],[],8,0,15089,"",0,0],[100982,"Autosomal recessive pure spastic paraplegia",3,1,[0],[],8,0,15090,"",0,0],[100984,"Autosomal dominant spastic paraplegia type 3",0,1,[1],[2,6],4,1,8437,"ATL1",1,0],[100985,"Autosomal dominant spastic paraplegia type 4",0,1,[1],[1,2,5,6],4,1,8438,"SPAST",1,0],[100986,"Autosomal recessive spastic paraplegia type 5A",0,1,[0],[2,5],8,1,10047,"CYP7B1",1,0],[100988,"Autosomal dominant spastic paraplegia type 6",0,1,[1],[2,5,6],5,1,10878,"NIPA1",1,0],[100989,"Autosomal dominant spastic paraplegia type 8",0,1,[1],[5,6],5,1,11339,"WASHC5",1,0],[100991,"Autosomal dominant spastic paraplegia type 10",0,1,[1],[2,5,6],5,1,11408,"KIF5A",1,0],[100993,"Autosomal dominant spastic paraplegia type 12",0,1,[1],[2,5,6],5,2,11489,"RTN2 UBAP1",1,0],[100994,"Autosomal dominant spastic paraplegia type 13",0,1,[1],[5,6],5,1,11532,"HSPD1",1,0],[100995,"Autosomal recessive spastic paraplegia type 14",0,1,[0],[6],5,1,11522,"SPG14",0,0],[100996,"Kjellin syndrome",0,1,[0],[2,5,6],5,1,10044,"ZFYVE26",1,0],[100997,"X-linked spastic paraplegia type 16",0,1,[5],[1],5,1,10287,"SPG16",0,0],[100998,"Autosomal dominant spastic paraplegia type 17",0,1,[1],[2,5,6],5,1,10043,"BSCL2",1,0],[100999,"Autosomal dominant spastic paraplegia type 19",0,1,[1],[6],5,1,11785,"SPG19",0,0],[101000,"Autosomal recessive spastic paraplegia type 20",0,1,[0],[1],5,1,10156,"SPART",1,0],[101001,"Autosomal recessive spastic paraplegia type 21",0,1,[0],[2,5,6],5,1,9568,"SPG21",1,0],[101003,"Autosomal recessive spastic paraplegia type 23",0,1,[0],[2],5,2,10046,"SPG23 DSTYK",1,0],[101004,"Autosomal recessive spastic paraplegia type 24",0,1,[0],[1],5,1,11862,"SPG24",0,0],[101005,"Autosomal recessive spastic paraplegia type 25",0,1,[0],[6],5,1,11992,"SPG25",0,0],[101006,"Autosomal recessive spastic paraplegia type 26",0,1,[0],[2,5],5,1,12213,"B4GALNT1",1,0],[101007,"Autosomal recessive spastic paraplegia type 27",0,1,[0],[5,6],5,1,12181,"SPG27",0,0],[101008,"Autosomal recessive spastic paraplegia type 28",0,1,[0],[1,2,5],5,1,12256,"DDHD1",1,0],[101009,"Autosomal dominant spastic paraplegia type 29",0,1,[1],[5],5,1,12334,"SPG29",0,0],[101010,"Autosomal spastic paraplegia type 30",0,1,[1,0],[5,6],5,1,12476,"KIF1A",1,0],[101011,"Autosomal dominant spastic paraplegia type 31",0,1,[1],[2],8,1,12453,"REEP1",1,0],[101016,"Isolated congenital long QT syndrome",0,7,[1,0],[3],2,0,19171,"",2,0],[101023,"Cleft hard palate",6,3,[],[],8,2,15092,"GRHL3 UBB",0,0],[101028,"Transaldolase deficiency",0,2,[0],[4,0,1],5,1,11624,"TALDO1",1,0],[101029,"Sub-cortical nodular heterotopia",2,3,[],[4,0,1],8,0,15093,"",0,0],[101030,"Subependymal nodular heterotopia",2,3,[],[4,0,1],8,0,15094,"",0,0],[101041,"Familial hypofibrinogenemia",2,4,[1],[3],8,3,15096,"FGA FGB FGG",0,0],[101043,"Congenital aortic valve dysplasia",2,3,[],[],8,0,15097,"",0,0],[101046,"Epilepsy with auditory features",0,1,[1],[2,5,6],6,3,10898,"RELN LGI1 MICAL1",2,0],[101049,"Familial hypocalciuric hypercalcemia type 2",7,15,[1],[],8,1,7792,"GNA11",1,0],[101050,"Familial hypocalciuric hypercalcemia type 3",7,15,[1],[],8,1,10926,"AP2S1",1,0],[101063,"Situs inversus totalis",6,3,[1,0,7,5],[4,0,1,2],3,10,10029,"CITED2 NODAL CFAP53 CFAP52 MMP21 NME7 ANKS3 PKD1L1 DNAH9 CIROP",0,0],[101068,"Congenital stromal corneal dystrophy",0,10,[1],[0],5,2,12401,"DCN SPARCL1",1,0],[101070,"Bilateral frontoparietal polymicrogyria",2,3,[0],[4,0,1],8,1,11738,"ADGRG1",1,0],[101071,"Unilateral hemispheric polymicrogyria",2,3,[],[4,0,1],8,0,15099,"",0,0],[101075,"X-linked Charcot-Marie-Tooth disease type 1",0,1,[7],[2],6,1,10549,"GJB1",1,0],[101076,"X-linked Charcot-Marie-Tooth disease type 2",0,1,[5],[1,2],5,0,10550,"",0,0],[101077,"X-linked Charcot-Marie-Tooth disease type 3",0,1,[5],[2,5],5,0,10551,"",0,0],[101078,"X-linked Charcot-Marie-Tooth disease type 4",0,1,[5],[0,1,2],5,1,10689,"AIFM1",1,0],[101081,"Charcot-Marie-Tooth disease type 1A",0,1,[1],[2],2,1,7309,"PMP22",1,0],[101082,"Charcot-Marie-Tooth disease type 1B",0,1,[1],[1,2,5,6],3,1,7307,"MPZ",1,0],[101083,"Charcot-Marie-Tooth disease type 1C",0,1,[1],[2,5,6],8,1,10995,"LITAF",1,0],[101084,"Charcot-Marie-Tooth disease type 1D",0,1,[1],[1,2,5,6],8,1,11890,"EGR2",1,0],[101085,"Charcot-Marie-Tooth disease type 1F",0,1,[1],[1,2],6,1,11902,"NEFL",1,0],[101088,"X-linked hyper-IgM syndrome",2,16,[5],[],8,1,10626,"CD40LG",1,0],[101089,"Hyper-IgM syndrome type 2",2,16,[0],[],8,1,11528,"AICDA",1,0],[101090,"Hyper-IgM syndrome type 3",2,16,[0],[],8,1,11735,"CD40",1,0],[101091,"Hyper-IgM syndrome type 4",2,16,[],[],8,0,11985,"",0,0],[101092,"Hyper-IgM syndrome type 5",2,16,[0],[],8,1,11971,"UNG",1,0],[101097,"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness",0,1,[0],[0,1],8,1,11916,"GDAP1",1,0],[101101,"Charcot-Marie-Tooth disease type 2B2",0,1,[0],[6],5,1,11570,"PNKP",1,0],[101102,"Charcot-Marie-Tooth disease type 2H",0,1,[0],[2],5,1,11901,"GDAP1",0,0],[101104,"Marin-Amat syndrome",2,10,[],[],8,0,15101,"",0,0],[101108,"Spinocerebellar ataxia type 23",0,1,[1],[6],5,1,12449,"PDYN",1,0],[101109,"Spinocerebellar ataxia type 28",0,1,[1],[2],8,1,12450,"AFG3L2",1,0],[101110,"Spinocerebellar ataxia type 20",0,1,[1],[6],5,1,12098,"SCA20",0,0],[101111,"Spinocerebellar ataxia type 25",0,1,[1],[3],5,2,12103,"SCA25 PNPT1",1,0],[101112,"Spinocerebellar ataxia type 26",0,1,[1],[6],5,1,12246,"EEF2",1,0],[101150,"Autosomal recessive dopa-responsive dystonia",0,1,[0],[0,1],4,2,11551,"TH TSPOAP1",1,0],[101206,"Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome",1,3,[],[4,0],8,0,15103,"",0,0],[101330,"Porphyria cutanea tarda",0,2,[1,3],[6],3,0,15104,"",0,0],[101334,"African tick typhus",0,8,[2],[],8,0,24472,"",0,0],[101351,"Familial isolated congenital asplenia",6,3,[1],[],8,2,10066,"NKX2-5 RPSA",1,0],[101433,"Rare urogenital disease",4,-1,[],[],8,0,15106,"",0,0],[101435,"Rare genetic eye disease",4,10,[],[],8,0,15107,"",0,0],[101685,"Rare non-syndromic intellectual disability",0,1,[1,0,7,5],[1,2],6,0,15108,"",0,0],[101932,"Anomaly of the mitral subvalvular apparatus",6,3,[],[],8,0,15109,"",0,0],[101934,"Genetic cardiac rhythm disease",4,7,[],[],8,0,15110,"",0,0],[101936,"Rare gastroesophageal disease",4,12,[],[],8,0,15111,"",0,0],[101937,"Rare pancreatic disease",4,12,[],[],8,0,15112,"",0,0],[101938,"Rare vascular liver disease",4,17,[],[],8,0,15113,"",0,0],[101939,"Rare parenchymal liver disease",4,17,[],[],8,0,15114,"",0,0],[101940,"Rare metabolic liver disease",4,17,[],[],8,0,15115,"",0,0],[101941,"Rare biliary tract disease",4,17,[],[],8,0,15116,"",0,0],[101943,"Rare hepatic and biliary tract tumor",4,11,[],[],8,0,15117,"",0,0],[101944,"Rare pulmonary disease",4,9,[],[],8,0,15118,"",0,0],[101945,"Rare bronchopulmonary and pleural cavity tumors",4,11,[],[],8,0,15119,"",0,0],[101950,"Rare eye tumor",4,11,[],[],8,0,15121,"",0,0],[101952,"Rare diabetes mellitus",4,15,[],[],8,0,15122,"",0,0],[101953,"Rare dyslipidemia",4,15,[],[],8,0,15123,"",0,0],[101954,"Rare adrenal disease",4,15,[],[],8,0,15124,"",0,0],[101955,"Rare thyroid disease",4,15,[],[],8,0,15125,"",0,0],[101956,"Polyendocrinopathy",4,15,[],[],8,0,15126,"",0,0],[101957,"Pituitary deficiency",4,15,[],[],8,0,15127,"",0,0],[101958,"Primary adrenal insufficiency",4,15,[],[],8,0,15128,"",0,0],[101959,"Chronic primary adrenal insufficiency",4,15,[3],[3],2,0,15129,"",0,0],[101960,"Genetic chronic primary adrenal insufficiency",4,15,[],[],8,0,20999,"",0,0],[101963,"Acquired chronic primary adrenal insufficiency",4,15,[],[],8,0,15130,"",0,0],[101972,"Combined T and B cell immunodeficiency",3,16,[],[],8,0,15131,"",7,0],[101977,"Immunodeficiency due to predominantly antibodies defect",4,16,[],[],8,0,15132,"",0,0],[101985,"Quantitative and/or qualitative congenital phagocyte defect",4,16,[],[],8,0,15133,"",0,0],[101987,"Congenital neutropenia",4,16,[],[],8,0,15134,"",0,0],[101988,"Primary immunodeficiency due to a defect in innate immunity",4,16,[],[],8,0,15135,"",0,0],[101992,"Immunodeficiency due to a complement cascade protein anomaly",4,16,[],[],8,0,15136,"",0,0],[101995,"Periodic fever syndrome",4,14,[],[],8,0,15137,"",0,0],[101997,"Primary immunodeficiency",4,16,[],[],3,0,3778,"",6,0],[101998,"Rare epilepsy",4,1,[],[],8,0,15139,"",0,0],[102000,"Medullar disease",4,1,[],[],8,0,15141,"",0,0],[102002,"Rare ataxia",4,1,[],[],8,0,437,"",3,0],[102003,"Rare movement disorder",4,1,[],[],8,0,15143,"",0,0],[102005,"Brain inflammatory disease",4,1,[],[],8,0,15144,"",0,0],[102006,"Neurovascular malformation",4,1,[],[3],8,0,15145,"",0,0],[102009,"Classic lissencephaly",3,3,[],[],8,0,15146,"",0,0],[102010,"Other syndrome with lissencephaly as a major feature",4,3,[],[],8,0,15147,"",0,0],[102011,"Lissencephaly type 3",3,3,[],[],8,0,15148,"",0,0],[102012,"Pure hereditary spastic paraplegia",3,1,[],[],8,0,15149,"",0,0],[102013,"Complex hereditary spastic paraplegia",3,1,[],[],8,0,15150,"",6,0],[102014,"Autosomal dominant limb-girdle muscular dystrophy",4,1,[1],[],8,0,15151,"",4,0],[102015,"Autosomal recessive limb-girdle muscular dystrophy",4,1,[0],[],8,0,15152,"",16,0],[102020,"Autosomal monosomy syndrome",4,3,[],[],8,0,15153,"",0,0],[102021,"Rickettsial disease",4,8,[],[],8,0,6956,"",0,0],[102022,"Spotted fever rickettsiosis",4,8,[],[],8,0,1195,"",0,0],[102023,"Typhus-group rickettsiosis",4,8,[],[],8,0,1246,"",0,0],[102024,"Human herpesvirus 8-related disorder",4,11,[],[],8,0,15157,"",0,0],[102237,"Unexplained periodic fever syndrome",4,14,[],[],8,0,15158,"",0,0],[102283,"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability",4,3,[],[],8,0,15159,"",2,0],[102285,"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability",4,3,[],[],8,0,15161,"",0,0],[102369,"Rare syndromic intellectual disability",4,1,[],[],8,0,15162,"",0,0],[102379,"Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent",0,11,[],[],8,0,15164,"",0,0],[102381,"Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor",0,11,[],[],8,0,15165,"",0,0],[102724,"Acute myeloid leukemia with t(8;21)(q22;q22) translocation",0,11,[],[2,5,6],5,5,15166,"RUNX1 KIT FLT3 RUNX1T1 CEBPA",0,0],[103907,"Chronic diarrhea due to glucoamylase deficiency",0,12,[],[2],8,0,15169,"",0,0],[103908,"Congenital sodium diarrhea",0,12,[1,0],[4,0],5,2,15170,"GUCY2C SLC9A3",0,0],[103909,"Trehalase deficiency",0,12,[1],[5,6],0,1,12803,"TREH",0,0],[103910,"Congenital enterocyte heparan sulfate deficiency",0,12,[],[0,1],5,0,15171,"",0,0],[103918,"Tropical pancreatitis",0,12,[],[2],8,2,11986,"SPINK1 CTRC",0,0],[103919,"Autoimmune pancreatitis",3,12,[2],[],8,0,15175,"",0,0],[104003,"Congenital intestinal transport defect",4,12,[],[],8,0,15178,"",0,0],[104004,"Intestinal disease due to vitamin absorption anomaly",4,12,[],[],8,0,15179,"",0,0],[104005,"Intestinal disease due to fat malabsorption",4,12,[],[],8,0,15180,"",0,0],[104006,"Congenital intestinal disease due to an enzymatic defect",4,12,[],[],8,0,15181,"",0,0],[104007,"Congenital enteropathy involving intestinal mucosa development",4,12,[],[],8,0,15182,"",0,0],[104008,"Short bowel syndrome",3,12,[],[],3,0,15183,"",0,0],[104009,"Rare disease involving intestinal motility",4,12,[],[],8,0,15184,"",0,0],[104010,"Intestinal polyposis syndrome",3,12,[],[],8,0,15185,"",0,0],[104011,"Rare tumor of intestine",4,11,[],[],8,0,15186,"",0,0],[104012,"Rare monogenic inflammatory bowel disease",4,12,[],[],8,0,15187,"",0,0],[104013,"Metabolic disease with intestinal involvement",4,12,[],[],8,0,15188,"",0,0],[104075,"Adenocarcinoma of the small intestine",0,11,[2],[6],4,0,3198,"",0,0],[104076,"Leiomyosarcoma of small intestine",0,11,[],[],8,0,3360,"",0,0],[104077,"Myopathic intestinal pseudoobstruction",7,12,[4],[],8,1,15191,"ACTG2",0,0],[104078,"Unclassified intestinal pseudoobstruction",7,12,[],[],8,0,15192,"",0,0],[108959,"Non-syndromic esophageal malformation",4,3,[],[],8,0,15207,"",0,0],[108961,"Syndromic esophageal malformation",4,3,[],[],8,0,15208,"",0,0],[108963,"Non-syndromic gastroduodenal malformation",4,3,[],[],8,0,15209,"",0,0],[108965,"Syndromic gastroduodenal malformation",4,3,[],[],8,0,15210,"",0,0],[108967,"Non-syndromic intestinal malformation",4,3,[],[],8,0,15211,"",0,0],[108969,"Syndromic intestinal malformation",4,3,[],[],8,0,15212,"",0,0],[108971,"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen",4,3,[],[],8,0,15213,"",0,0],[108973,"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen",4,3,[],[],8,0,15214,"",0,0],[108977,"Non-syndromic diaphragmatic or abdominal wall malformation",4,3,[],[],8,0,15215,"",0,0],[108979,"Syndromic diaphragmatic or abdominal wall malformation",4,3,[],[],8,0,15216,"",0,0],[108993,"Non-syndromic respiratory or mediastinal malformation",4,3,[],[],8,0,15221,"",0,0],[108995,"Syndromic respiratory or mediastinal malformation",4,3,[],[],8,0,15222,"",0,0],[108997,"Rare anemia",4,4,[],[],8,0,15223,"",0,0],[108999,"Rare disorder due to toxic effects",4,-1,[],[],8,0,15224,"",0,0],[109007,"Arthrogryposis syndrome",4,3,[],[],8,0,15225,"",1,0],[109009,"Syndrome with limb malformations as a major feature",4,3,[],[],8,0,15226,"",0,0],[109011,"Non-syndromic limb malformation",4,3,[],[],8,0,15227,"",0,0],[117569,"Rare intestinal disease",4,12,[],[],8,0,15245,"",0,0],[117573,"Syndromic anorectal malformation",4,3,[],[],8,0,15246,"",0,0],[137577,"Neonatal hypoxic and ischemic brain injury",5,1,[2],[0,1],3,0,6663,"",0,0],[137583,"Vulvar intraepithelial neoplasia",0,11,[2],[6,7],2,0,5198,"",0,0],[137593,"Infectious epithelial keratitis",0,10,[],[],8,0,15289,"",0,0],[137596,"Neurotrophic keratopathy",0,10,[2],[2,6],2,0,15290,"",0,0],[137599,"Herpes simplex virus stromal keratitis",0,10,[2],[3],3,0,15291,"",0,0],[137602,"Corneal endotheliitis",0,10,[],[],8,0,15292,"",0,0],[137605,"Legius syndrome",1,5,[1],[0,1,2],3,1,12669,"SPRED1",1,0],[137608,"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome",2,3,[2],[0],8,1,15293,"PTEN",0,0],[137617,"Nephrogenic systemic fibrosis",0,5,[],[],8,0,15294,"",0,0],[137622,"Intractable diarrhea-choanal atresia-eye anomalies syndrome",1,3,[],[0,1],5,0,15295,"",0,0],[137625,"Glycogen storage disease due to muscle and heart glycogen synthase deficiency",0,2,[0],[2],5,1,12693,"GYS1",1,0],[137628,"Cardiac anomalies-heterotaxy syndrome",1,3,[1],[4,0,1],5,0,15296,"",0,0],[137631,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",0,9,[],[1],5,0,12757,"",0,0],[137634,"Overgrowth-macrocephaly-facial dysmorphism syndrome",1,3,[1],[4,0,1],5,1,13357,"RNF135",0,0],[137639,"Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome",2,1,[0],[0,1],5,1,11897,"POLR3A",1,0],[137667,"Capillary malformation-arteriovenous malformation",3,3,[1,2],[0,1],6,0,12016,"",0,0],[137672,"Pellucid marginal degeneration",0,10,[],[],8,0,15298,"",0,0],[137675,"Histiocytoid cardiomyopathy",0,7,[0,4,7],[0,1],5,1,10771,"MT-CYB",0,0],[137678,"Spondyloepiphyseal dysplasia with metatarsal shortening",0,0,[1],[2,5],5,1,12206,"COL2A1",1,0],[137681,"Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",0,2,[0],[0],5,1,12191,"GFM1",1,0],[137686,"Asherman syndrome",0,19,[2],[6],2,0,15299,"",0,0],[137698,"Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk",5,8,[2],[3],2,0,0,"",0,0],[137754,"Aminoacylase 1 deficiency",0,1,[0],[2],5,1,12368,"ACY1",1,0],[137776,"Lethal congenital contracture syndrome type 2",1,3,[0],[4,0],5,1,11868,"ERBB3",1,0],[137783,"Lethal congenital contracture syndrome type 3",1,3,[0],[4,0],5,2,12656,"PIP5K1C MYBPC1",1,0],[137807,"Primary cutaneous amyloidosis",3,14,[1,2],[3],3,0,15301,"",0,0],[137810,"Nodular cutaneous amyloidosis",0,5,[],[],8,0,15302,"",0,0],[137814,"Macular amyloidosis",0,5,[],[],8,0,15303,"",0,0],[137817,"Arachnoiditis",0,1,[2],[3],8,0,15304,"",0,0],[137831,"X-linked intellectual disability-cerebellar hypoplasia syndrome",0,3,[7],[0,1],5,1,10337,"OPHN1",1,0],[137834,"Frank-Ter Haar syndrome",0,0,[0],[4,0],5,1,9579,"SH3PXD2B",1,0],[137839,"Lemierre syndrome",0,8,[],[5],2,0,15306,"",0,0],[137867,"Madras motor neuron disease",0,1,[2,5],[2,5,6],5,0,15307,"",0,0],[137888,"Auriculocondylar syndrome",1,3,[1,0],[0,1],7,3,107,"GNAI3 PLCB4 EDN1",1,0],[137893,"Male infertility due to large-headed multiflagellar polyploid spermatozoa",2,20,[0],[],8,8,9461,"AURKC DNAH10 IFT74 CFAP47 DNHD1 AKAP3 CFAP61 ARMC12",2,0],[137898,"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome",0,3,[0],[4,0,1,2,5,6],5,1,12622,"DARS2",1,0],[137905,"Syndromic optic nerve hypoplasia",4,10,[],[],8,0,15310,"",0,0],[137908,"Hypotonia with lactic acidemia and hyperammonemia",0,2,[0],[4,0],5,1,12718,"MRPS22",1,0],[137914,"Choanal atresia",6,3,[2],[0,1,2],3,0,12155,"",0,0],[137917,"Choanal atresia, unilateral",2,3,[2],[0,1],3,0,15312,"",0,0],[137920,"Choanal atresia, bilateral",2,3,[2],[0,1],8,0,15313,"",0,0],[137926,"Primary laryngeal lymphangioma",1,3,[],[0,1],8,0,15314,"",0,0],[137929,"Neonatal brainstem dysfunction",0,1,[],[],8,0,15315,"",0,0],[137932,"Congenital laryngeal palsy",1,18,[],[0],8,0,15316,"",0,0],[137935,"Airway infantile hemangioma",0,3,[2],[1],8,0,15317,"",0,0],[138041,"Pierre Robin syndrome associated with collagen disease",4,3,[],[],8,0,24145,"",0,0],[138044,"Rare disease with Pierre Robin syndrome",4,3,[],[],8,0,15319,"",0,0],[138047,"Pierre Robin syndrome associated with a chromosomal anomaly",4,3,[],[],8,0,24147,"",0,0],[138050,"Pierre Robin syndrome associated with branchial archs anomalies",4,3,[],[],8,0,24148,"",0,0],[138055,"Pierre Robin syndrome associated with bone disease",4,3,[],[],8,0,24149,"",0,0],[138059,"Teratogenic Pierre Robin syndrome",4,3,[],[],8,0,15323,"",0,0],[139009,"Developmental anomaly of metabolic origin",4,3,[],[],8,0,15327,"",0,0],[139012,"Rare bone development disorder",4,3,[],[],8,0,15328,"",0,0],[139021,"Malformation syndrome with short stature",4,3,[],[],8,0,15329,"",0,0],[139024,"Overgrowth/obesity syndrome",4,3,[],[],8,0,15330,"",0,0],[139027,"Rare developmental defect with skin/mucosae involvement",4,3,[],[],8,0,15331,"",0,0],[139030,"Rare developmental defect with connective tissue involvement",4,3,[],[],8,0,15332,"",0,0],[139033,"Progeroid syndrome",4,3,[],[],8,0,15333,"",0,0],[139036,"Branchial arch or oral-acral syndrome",4,3,[],[],8,0,15334,"",0,0],[139039,"Orofacial clefting syndrome",4,3,[],[],8,0,15335,"",1,0],[139042,"Malformation syndrome with odontal and/or periodontal component",4,3,[],[],8,0,15336,"",0,0],[139390,"Non-syndromic craniosynostosis",3,3,[],[0,1],8,0,15337,"",0,0],[139393,"Syndromic craniosynostosis",4,3,[],[],8,0,15338,"",0,0],[139396,"X-linked cerebral adrenoleukodystrophy",2,2,[5],[3],6,1,10247,"ABCD1",1,0],[139399,"Adrenomyeloneuropathy",2,2,[5],[6],8,1,15339,"ABCD1",0,0],[139402,"Drug reaction with eosinophilia and systemic symptoms",0,5,[2],[3],8,0,15340,"",0,0],[139406,"Encephalopathy due to prosaposin deficiency",0,1,[0],[0,1],5,1,12719,"PSAP",1,0],[139411,"Carney triad",0,11,[],[5,6],5,3,11424,"SDHA SDHB SDHC",0,0],[139414,"Congenital panfollicular nevus",0,5,[],[0,1],5,0,15341,"",0,0],[139417,"Acute transverse myelitis",0,1,[],[1,2,5,6,7],3,0,15342,"",0,0],[139423,"Idiopathic acute transverse myelitis",2,1,[2],[3],4,0,15344,"",0,0],[139426,"Perioral myoclonia with absences",0,1,[],[2],5,0,15345,"",0,0],[139431,"Epilepsy with eyelid myoclonia",0,1,[3,4],[2],8,0,15346,"",0,0],[139436,"Multicentric reticulohistiocytosis",0,14,[2],[6],6,0,15347,"",0,0],[139441,"Hypomyelination with atrophy of basal ganglia and cerebellum",0,1,[1,0],[0,1,2],5,2,12905,"TUBB4A UFM1",1,0],[139444,"Leukoencephalopathy with bilateral anterior temporal lobe cysts",0,1,[4],[0,1],5,0,15348,"",0,0],[139447,"Progressive cavitating leukoencephalopathy",0,1,[0],[1,2],5,1,15349,"NDUFV2",0,0],[139450,"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome",1,3,[1],[8],5,0,12739,"",0,0],[139455,"Autosomal recessive bestrophinopathy",0,10,[0],[3],5,1,12733,"BEST1",1,0],[139466,"SERKAL syndrome",1,3,[0],[4],5,1,12734,"WNT4",1,0],[139471,"Microphthalmia with brain and digit anomalies",1,3,[1],[4],5,1,11936,"BMP4",1,0],[139474,"17q11.2 microduplication syndrome",1,3,[1],[0,1],5,1,15350,"NF1",0,0],[139480,"Autosomal recessive spastic paraplegia type 39",0,1,[0],[2],5,1,12787,"PNPLA6",1,0],[139485,"Autosomal recessive ataxia due to ubiquinone deficiency",0,1,[0],[2],5,1,12784,"COQ8A",1,0],[139507,"Dietary iron overload disease",0,17,[2],[6,7],8,0,11012,"",0,0],[139512,"Neuropathy with hearing impairment",0,1,[1],[6],5,1,15351,"GJB3",0,0],[139515,"Charcot-Marie-Tooth disease type 4J",0,1,[0],[1,2,6],5,1,12640,"FIG4",1,0],[139518,"Distal hereditary motor neuropathy type 1",0,1,[1],[2,5,6],8,0,8451,"",0,0],[139525,"Distal hereditary motor neuropathy type 2",0,1,[1],[5,6],5,4,15352,"HSPB1 HSPB8 HSPB3 FBXO38",0,0],[139536,"Distal hereditary motor neuropathy type 5",0,1,[1],[2,5,6],8,3,100350,"REEP1 BSCL2 GARS1",0,0],[139547,"Distal spinal muscular atrophy type 3",0,1,[0],[1,2,5,6],5,0,11771,"",0,0],[139552,"Distal hereditary motor neuropathy, Jerash type",0,1,[0],[2],5,1,11585,"SIGMAR1",1,0],[139557,"X-linked distal spinal muscular atrophy type 3",0,1,[5],[1,2,5,6],5,1,10338,"ATP7A",1,0],[139564,"Hereditary sensory and autonomic neuropathy type 1B",0,1,[1],[6],5,0,11961,"",1,0],[139573,"Hereditary sensory and autonomic neuropathy with deafness and global delay",0,1,[0],[1,2],5,0,15354,"",0,0],[139578,"Mutilating hereditary sensory neuropathy with spastic paraplegia",0,1,[0],[1,2],5,1,9748,"CCT5",0,0],[139583,"X-linked hereditary sensory and autonomic neuropathy with deafness",0,1,[5],[2],5,1,10378,"AIFM1",1,0],[139589,"Distal hereditary motor neuropathy type 7",0,1,[1],[2,5,6],8,2,15355,"DCTN1 SLC5A7",0,0],[140162,"Inherited cancer-predisposing syndrome",4,11,[],[],8,0,15356,"",1,0],[140286,"Secondary hypoparathyroidism due to impaired parathormon secretion",0,15,[2],[2,5,6,7],2,0,15357,"",0,0],[140436,"Familial intraosseous vascular malformation",0,3,[0],[],8,1,11744,"ELMO2",1,0],[140453,"Autosomal dominant hereditary demyelinating motor and sensory neuropathy",4,1,[1],[],8,0,15359,"",0,0],[140456,"Autosomal dominant hereditary axonal motor and sensory neuropathy",4,1,[1],[],8,0,15360,"",0,0],[140459,"Autosomal recessive hereditary demyelinating motor and sensory neuropathy",4,1,[0],[],8,0,15361,"",0,0],[140465,"Autosomal dominant distal hereditary motor neuropathy",4,1,[1],[],8,0,15362,"",2,0],[140468,"Autosomal recessive distal hereditary motor neuropathy",4,1,[0],[],8,0,15363,"",0,0],[140471,"Hereditary sensory and autonomic neuropathy",3,1,[],[],8,0,15364,"",3,0],[140474,"Autosomal dominant hereditary sensory and autonomic neuropathy",4,1,[1],[],8,0,15365,"",0,0],[140477,"Autosomal recessive hereditary sensory and autonomic neuropathy",4,1,[0],[],8,0,15366,"",0,0],[140481,"Autosomal dominant slowed nerve conduction velocity",0,1,[1],[6],5,1,11998,"ARHGEF10",1,0],[140653,"Neuro-ophthalmological disease",4,10,[],[],8,0,15368,"",0,0],[140874,"Joubert syndrome",1,3,[0,5],[0,1],3,0,15369,"",0,0],[140896,"Severe acute respiratory syndrome",0,9,[2],[3],5,0,5091,"",0,0],[140905,"Hyperlipidemia due to hepatic triacylglycerol lipase deficiency",0,15,[0],[8],8,1,13533,"LIPC",1,0],[140908,"Brachydactyly type B2",2,3,[1],[0],8,1,12658,"NOG",0,0],[140917,"Stapes ankylosis with broad thumbs and toes",1,3,[1],[0,1],5,1,8484,"NOG",0,0],[140922,"Titin-related limb-girdle muscular dystrophy R10",0,1,[0],[2,5,6],5,1,12127,"TTN",1,0],[140927,"Self-limited neonatal/infantile epilepsy",0,1,[1],[0,1],5,2,11904,"SCN2A KCNQ2",1,0],[140933,"Linear atrophoderma of Moulin",0,5,[],[2],5,0,15371,"",0,0],[140936,"Lelis syndrome",1,3,[0],[2,5,6],5,0,12008,"",0,0],[140941,"Short stature due to primary acid-labile subunit deficiency",0,15,[0],[0,1],8,1,14420,"IGFALS",1,0],[140944,"CLOVES syndrome",1,3,[2],[0,1],5,1,13038,"PIK3CA",0,0],[140949,"Low-flow priapism",5,26,[2],[3],3,0,4745,"",0,0],[140952,"Syndactyly-telecanthus-anogenital and renal malformations syndrome",1,3,[7],[0,1],5,1,10408,"CCNQ",1,0],[140957,"Autosomal dominant macrothrombocytopenia",0,4,[1],[1,2,5,6,7],5,10,15372,"GP1BA GP1BB ITGA2B ITGB3 TRPM7 TUBA8 TUBB1 ACTN1 TPM4 GFI1B",1,0],[140963,"Bilateral microtia-deafness-cleft palate syndrome",1,3,[1,0],[0],5,1,12854,"HOXA2",1,0],[140966,"Palmoplantar keratoderma, Nagashima type",0,5,[0],[1,2],5,1,14272,"SERPINB7",1,0],[140969,"Saldino-Mainzer syndrome",0,0,[0],[1],5,2,9964,"IFT140 IFT172",1,0],[140976,"RHYNS syndrome",0,3,[0],[4,0,1],5,1,11202,"TMEM67",0,0],[140989,"Primary angiitis of the central nervous system",0,1,[2],[3],4,0,15374,"",0,0],[140997,"Orofaciodigital syndrome",3,3,[],[],8,0,15375,"",2,0],[141000,"Orofaciodigital syndrome type 11",1,3,[2],[0],8,0,13035,"",0,0],[141007,"Orofaciodigital syndrome type 9",1,3,[0],[4,0,1],5,1,9795,"TBC1D32",1,0],[141013,"First branchial cleft anomaly",6,3,[],[],8,0,15376,"",0,0],[141022,"Second branchial cleft anomaly",6,3,[],[],8,0,7233,"",0,0],[141030,"Third branchial cleft anomaly",6,3,[],[],8,0,15377,"",0,0],[141037,"Fourth branchial cleft anomaly",6,3,[],[],8,0,15378,"",0,0],[141046,"Cervical dermoid cyst",6,18,[],[],8,0,15379,"",0,0],[141051,"Facial dermoid cyst",6,18,[],[],8,0,15380,"",0,0],[141061,"Commissural lip fistula",6,3,[],[],8,0,15381,"",0,0],[141064,"Isolated lower lip fistula",6,3,[],[],8,0,15382,"",0,0],[141067,"Cervicofacial fibrochondroma",6,25,[],[],8,0,15383,"",0,0],[141071,"Isolated digestive duplication cyst of the tongue",6,18,[],[],8,0,15384,"",0,0],[141074,"External auditory canal aplasia/hypoplasia",6,3,[1],[0],8,1,15385,"TSHZ1",0,0],[141077,"Epignathus",2,3,[2],[4,0],5,0,15386,"",0,0],[141083,"Nasolacrimal duct cyst",6,3,[2],[0,1,6],2,0,15387,"",0,0],[141091,"Polyrrhinia",1,3,[2],[4,0],6,0,15388,"",0,0],[141096,"Supernumerary nostril",1,3,[2],[4,0],5,0,15389,"",0,0],[141099,"Proboscis lateralis",1,3,[2],[4,0,1],8,0,15390,"",0,0],[141103,"Nasal dermoid cyst",6,18,[],[],8,0,10921,"",0,0],[141107,"Nasopharyngeal teratoma",2,18,[],[],8,0,15391,"",0,0],[141112,"Nasal glial heterotopia",0,18,[2],[],8,0,15392,"",0,0],[141115,"Nasal ganglioglioma",0,11,[],[4,0],5,0,15393,"",0,0],[141118,"Nasal encephalocele",2,3,[4],[],8,0,15394,"",0,0],[141121,"Congenital subglottic stenosis",1,18,[],[0],8,0,15395,"",0,0],[141124,"Congenital laryngeal cyst",6,18,[],[0,1],3,0,15396,"",0,0],[141127,"Congenital tracheal stenosis",6,18,[2],[0,1],3,0,11340,"",0,0],[141132,"Craniofacial microsomia",1,3,[2],[4,0],3,0,15397,"",0,0],[141145,"Hemifacial hyperplasia",1,3,[2],[4,0,1],3,0,7590,"",0,0],[141148,"Hemifacial myohyperplasia",1,3,[],[0],5,0,11723,"",0,0],[141152,"Isolated congenital hypoglossia/aglossia",6,3,[],[0,1],8,0,13003,"",0,0],[141163,"Glossopalatine ankylosis",1,3,[2],[0,1],5,0,15399,"",0,0],[141179,"Non-involuting congenital hemangioma",0,3,[2],[4],8,0,15403,"",0,0],[141184,"Rapidly involuting congenital hemangioma",0,3,[2],[4],8,0,15404,"",0,0],[141189,"Cerebrofacial arteriovenous metameric syndrome",1,3,[],[],8,0,15405,"",0,0],[141209,"Generalized lymphatic anomaly",1,3,[2],[0,1],8,0,15408,"",0,0],[141214,"Isolated congenital syngnathia",1,3,[],[0],8,0,15409,"",1,0],[141219,"Nasal dorsum fistula",6,3,[],[],8,0,15410,"",0,0],[141229,"Facial cleft",4,3,[],[],8,0,15411,"",0,0],[141234,"Median facial cleft",3,3,[],[4,0],8,0,15412,"",0,0],[141239,"Median cleft of the upper lip and maxilla",6,3,[],[],8,0,15413,"",0,0],[141242,"Paramedian nasal cleft",6,3,[],[4,0],8,0,15414,"",0,0],[141253,"Oblique facial cleft",3,3,[],[0,1],8,0,15415,"",0,0],[141258,"Tessier number 4 facial cleft",6,3,[4],[4,0],5,1,10850,"SPECC1L",0,0],[141261,"Tessier number 5 facial cleft",6,3,[],[4,0],8,0,15416,"",0,0],[141265,"Tessier number 6 facial cleft",6,3,[],[4,0],8,0,15417,"",0,0],[141269,"Lateral facial cleft",3,3,[],[4,0],8,0,15418,"",0,0],[141276,"Tessier number 7 facial cleft",6,3,[1],[4,0],8,2,13300,"PTCH2 SPECC1L",0,0],[141288,"Midline cervical cleft",6,3,[2],[],8,0,15419,"",0,0],[141291,"Cleft lip and alveolus",6,3,[3],[0,1],8,4,15420,"NECTIN1 TP63 IRF6 MSX1",0,0],[141333,"Biemond syndrome type 2",0,3,[4],[4,0],5,0,8864,"",0,0],[155832,"Rare head and neck malformation",4,3,[],[],8,0,15475,"",0,0],[155835,"Cysts and fistulae of the face and oral cavity",4,3,[],[],8,0,15476,"",0,0],[155838,"Pinnae fistula or cyst",6,3,[],[],8,0,15477,"",0,0],[155867,"Paramedian facial cleft",3,3,[],[4,0],8,0,15478,"",0,0],[155878,"Submucosal cleft palate",6,3,[],[],8,2,15479,"GRHL3 UBB",0,0],[155884,"Coloboma of superior eyelid",6,3,[],[],8,0,15480,"",0,0],[155889,"Coloboma of inferior eyelid",6,3,[],[],8,0,15481,"",0,0],[155896,"Otomandibular dysplasia",4,3,[],[],8,0,15482,"",0,0],[155899,"Mandibulofacial dysostosis",3,3,[],[],8,0,15483,"",0,0],[156005,"Primary early-onset glaucoma",3,10,[],[],8,0,15485,"",0,0],[156140,"Predominantly large-vessel vasculitis",3,14,[],[],8,0,15488,"",0,0],[156143,"Predominantly medium-vessel vasculitis",3,14,[],[],8,0,15489,"",0,0],[156146,"Predominantly small-vessel vasculitis",3,14,[],[],8,0,15490,"",0,0],[156149,"Immune complex mediated vasculitis",4,14,[],[],8,0,15491,"",0,0],[156152,"Anti-neutrophil cytoplasmic antibody-associated vasculitis",3,14,[],[],2,0,15492,"",0,0],[156159,"Isolated dystonia",4,1,[],[],8,0,15494,"",0,0],[156162,"Renal ciliopathy",4,13,[],[],8,0,22409,"",1,0],[156165,"Retinal ciliopathy",4,10,[],[],8,0,22410,"",0,0],[156168,"Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene",4,10,[],[],8,0,22397,"",0,0],[156171,"Retinal ciliopathy due to mutation in the RPGR gene",4,10,[],[],8,0,22399,"",0,0],[156174,"Retinal ciliopathy due to mutation in the RPGRIP gene",4,10,[],[],8,0,22400,"",0,0],[156177,"Retinal ciliopathy due to mutation in Usher gene",4,10,[],[],8,0,22404,"",0,0],[156180,"Retinal ciliopathy due to mutation in nephronophthisis gene",4,10,[],[],8,0,22405,"",0,0],[156183,"Retinal ciliopathy due to mutation in Bardet-Biedl gene",4,10,[],[],8,0,22407,"",0,0],[156202,"Otomandibular dysplasia associated with monogenic syndromes",4,3,[],[],8,0,15495,"",0,0],[156207,"Macroglossia",4,3,[],[],8,0,15496,"",0,0],[156212,"Hypoglossia/aglossia",4,3,[],[],8,0,15497,"",0,0],[156215,"Oromandibular-limb anomalies syndrome",4,3,[],[],8,0,15498,"",0,0],[156224,"Paralytic facial malformation",4,3,[],[],8,0,15499,"",0,0],[156237,"Syndrome or malformation associated with head and neck malformations",4,3,[],[],8,0,15501,"",0,0],[156243,"Pinnae and external auditory canal anomaly",4,3,[],[],8,0,15502,"",0,0],[156246,"Nose and cavum anomaly",4,3,[],[],8,0,15503,"",0,0],[156249,"Larynx anomaly",4,3,[],[],8,0,15504,"",0,0],[156252,"Tracheal anomaly",4,3,[],[],8,0,15505,"",0,0],[156532,"Rare syndrome with cardiac malformations",4,3,[],[],8,0,15506,"",0,0],[156601,"Rare genetic hepatic disease",4,17,[],[],8,0,15507,"",0,0],[156604,"Genetic parenchymatous liver disease",4,17,[],[],8,0,15508,"",0,0],[156607,"Genetic biliary tract disease",4,17,[],[],8,0,15509,"",0,0],[156610,"Rare genetic respiratory disease",4,9,[],[],8,0,15510,"",0,0],[156619,"Rare genetic urogenital disease",4,26,[],[],8,0,15511,"",0,0],[156622,"Genetic urogenital tract malformation",4,3,[],[],8,0,24987,"",0,0],[156629,"Rare genetic cause of hypertension",4,13,[],[],8,0,15512,"",1,0],[156638,"Rare genetic endocrine disease",4,15,[],[],8,0,15513,"",0,0],[156643,"Genetic endocrine growth disease",4,15,[],[],8,0,15514,"",0,0],[156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",0,0,[0],[4,0],5,1,12108,"MATN3",1,0],[156731,"Dyssegmental dysplasia, Rolland-Desbuquois type",0,0,[],[4,0],5,0,9139,"",0,0],[157215,"Hereditary hypophosphatemic rickets with hypercalciuria",0,0,[1,0],[1,2],8,2,9431,"SLC34A3 SLC34A1",1,0],[157713,"Congenital or early infantile CACH syndrome",2,1,[0],[0,1],8,5,15519,"EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5",0,0],[157716,"Late infantile CACH syndrome",2,1,[0],[2],8,5,15520,"EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5",0,0],[157719,"Juvenile or adult CACH syndrome",2,1,[0],[5,6],8,5,15521,"EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5",0,0],[157791,"Epithelioid hemangioendothelioma",0,3,[2],[2,5,6,7],5,4,15523,"TFE3 CAMTA1 YAP1 WWTR1",0,0],[157794,"Hereditary mixed polyposis syndrome",0,12,[1],[2],5,2,11023,"BMPR1A GREM1",1,0],[157798,"Serrated polyposis syndrome",0,12,[1,3,4],[6,7],8,1,15524,"RNF43",0,0],[157801,"Mesoaxial synostotic syndactyly with phalangeal reduction",6,3,[0],[0,1],5,1,12271,"BHLHA9",1,0],[157808,"Isolated pseudoarthrosis of the limbs",6,3,[],[],8,0,15525,"",0,0],[157820,"Cold-induced sweating syndrome",0,1,[0],[2,6],5,3,15526,"CRLF1 CLCF1 KLHL7",0,0],[157823,"Klüver-Bucy syndrome",9,1,[],[],8,0,5817,"",0,0],[157826,"Congenital epulis",0,11,[],[0,1],8,0,15528,"",0,0],[157832,"Craniorhiny",1,3,[],[0],5,0,7398,"",0,0],[157835,"Paroxysmal hemicrania",0,1,[2],[2,5,6,7],6,0,15529,"",0,0],[157843,"Trigeminal autonomic cephalalgia",3,1,[],[],8,0,15530,"",0,0],[157846,"Neuroferritinopathy",0,1,[1],[6],5,1,11638,"FTL",1,0],[157850,"Pantothenate kinase-associated neurodegeneration",0,1,[0],[1,2,5,6],4,0,9319,"",1,0],[157941,"Huntington disease-like 1",0,1,[1],[6],8,1,11299,"PRNP",1,0],[157946,"Huntington disease-like 3",0,1,[0],[2],8,0,11487,"",0,0],[157949,"Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect",0,16,[0],[],8,2,9306,"RAG1 RAG2",0,0],[157954,"ANE syndrome",0,3,[0],[6],5,1,12794,"RBM28",1,0],[157962,"Oculoauricular syndrome, Schorderet type",1,10,[0],[0,1],5,1,12802,"HMX1",1,0],[157965,"SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome",2,14,[0],[0],5,1,12873,"SLC39A13",1,0],[157973,"Congenital muscular dystrophy due to LMNA mutation",0,1,[1],[0,1],5,1,13178,"LMNA",0,0],[157987,"Non-Langerhans cell histiocytosis",3,14,[],[],8,0,15531,"",0,0],[157991,"Generalized eruptive histiocytosis",0,5,[2],[2,5,6,7],8,0,15532,"",0,0],[157997,"Benign cephalic histiocytosis",0,5,[2],[1],8,0,15533,"",0,0],[158000,"Juvenile xanthogranuloma",0,5,[2],[0,1,2,5],5,0,15534,"",0,0],[158003,"Xanthoma disseminatum",0,5,[2],[2,5,6],8,0,15535,"",0,0],[158008,"Papular xanthoma",0,5,[2],[1,2,5,6,7],8,0,15536,"",0,0],[158011,"Necrobiotic xanthogranuloma",0,5,[2],[],8,0,15537,"",0,0],[158014,"Rosaï-Dorfman disease",0,14,[],[5,6],5,0,6412,"",0,0],[158019,"Indeterminate cell histiocytosis",0,5,[2],[],8,0,15538,"",0,0],[158022,"Progressive nodular histiocytosis",0,5,[2],[2,5,6],8,0,15539,"",0,0],[158025,"Hereditary progressive mucinous histiocytosis",0,5,[1],[2],5,0,7725,"",0,0],[158032,"Hemophagocytic syndrome",4,16,[],[1,2,5],3,0,15540,"",0,0],[158038,"Primary hemophagocytic lymphohistiocytosis",3,16,[],[],8,0,0,"",0,0],[158041,"Secondary hemophagocytic lymphohistiocytosis",4,16,[],[],8,0,15542,"",0,0],[158048,"Hemophagocytic syndrome associated with an infection",5,16,[],[3],8,0,0,"",0,0],[158057,"Acquired hemophagocytic lymphohistiocytosis associated with malignant disease",5,16,[],[3],8,0,15544,"",0,0],[158061,"Macrophage activation syndrome",9,14,[],[2,5,6],8,0,15545,"",0,0],[158124,"Genetic dementia",4,1,[],[],8,0,15547,"",0,0],[158266,"Huntington disease-like syndrome",3,1,[],[],3,0,15548,"",0,0],[158300,"Rare genetic hematologic disease",4,4,[],[],8,0,15549,"",0,0],[158668,"Ectodermal dysplasia-skin fragility syndrome",0,5,[0],[0,1],8,1,11472,"PKP1",1,0],[158673,"Localized dystrophic epidermolysis bullosa, acral form",2,5,[1,0],[0,1],5,1,15552,"COL7A1",0,0],[158676,"Localized dystrophic epidermolysis bullosa, nails only",2,5,[1,0],[0,1],5,1,15553,"COL7A1",0,0],[158681,"Epidermolysis bullosa simplex with circinate migratory erythema",0,5,[1],[0,1],8,1,12258,"KRT5",0,0],[158684,"Epidermolysis bullosa simplex with pyloric atresia",0,5,[0],[0],8,2,12807,"PLEC ITGB4",1,0],[158687,"Lethal acantholytic erosive disorder",0,5,[0],[4,0],5,2,12323,"DSP JUP",1,0],[158766,"Typical urticaria pigmentosa",2,5,[1,4],[],8,1,15554,"KIT",0,0],[158769,"Plaque-form urticaria pigmentosa",2,5,[1,4],[],8,1,15555,"KIT",0,0],[158772,"Nodular urticaria pigmentosa",2,5,[1,4],[],8,1,15556,"KIT",0,0],[158775,"Smoldering systemic mastocytosis",0,11,[1,4],[6,7],6,1,15557,"KIT",0,0],[158778,"Isolated bone marrow mastocytosis",0,11,[1,4],[],8,1,15558,"KIT",0,0],[160148,"Cap polyposis",0,12,[2],[2,5,6,7],5,0,15565,"",0,0],[162516,"Isolated congenital nasal pyriform aperture stenosis",1,3,[],[0],8,0,15568,"",0,0],[162526,"Isolated congenital auditory ossicle malformation",6,18,[],[],8,0,15570,"",0,0],[163209,"Non-syndromic cerebral malformation due to abnormal neuronal migration",4,3,[],[],8,0,15572,"",0,0],[163525,"Subacute cutaneous lupus erythematosus",0,5,[],[6,7],3,0,15573,"",0,0],[163531,"Chronic cutaneous lupus erythematosus",3,5,[3],[2,5,6,7],8,0,15574,"",0,0],[163582,"Rare bacterial infectious disease",4,8,[],[],8,0,15575,"",0,0],[163585,"Rare viral disease",4,8,[],[],8,0,15576,"",0,0],[163588,"Rare parasitic disease",4,8,[],[],8,0,15577,"",0,0],[163591,"Rare mycosis",4,8,[],[],8,0,15578,"",0,0],[163596,"Hemoglobin Bart's fetalis syndrome",0,4,[0],[4,0],0,2,15579,"HBA2 HBA1",0,0],[163631,"Bile acid synthesis defect with cholestasis and malabsorption",4,2,[],[],8,0,15581,"",0,0],[163634,"Maffucci syndrome",0,0,[2],[2],5,2,13808,"IDH2 IDH1",0,0],[163637,"Rare disorder related with pregnancy, childbirth and puerperium",4,19,[],[],8,0,15582,"",0,0],[163649,"Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome",0,0,[0],[0,1],5,0,11261,"",0,0],[163654,"Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome",0,0,[4],[0,1],5,0,12716,"",0,0],[163662,"Spondyloepiphyseal dysplasia, Reardon type",0,0,[1],[0,1],5,0,10902,"",0,0],[163665,"Spondyloepiphyseal dysplasia tarda, Kohn type",0,0,[0],[2],5,0,10073,"",0,0],[163668,"Spondyloepiphyseal dysplasia, MacDermot type",1,0,[1],[0,1],5,0,8472,"",0,0],[163681,"CNTNAP2-related developmental and epileptic encephalopathy",0,1,[0],[1],8,1,12400,"CNTNAP2",1,0],[163684,"Leukoencephalopathy-dystonia-motor neuropathy syndrome",0,1,[0],[2],5,1,13391,"SCP2",1,0],[163690,"Hypotonia-cystinuria syndrome",0,2,[0],[0,1],5,2,11669,"SLC3A1 PREPL",1,0],[163693,"2p21 microdeletion syndrome",0,2,[0],[0,1],5,4,15583,"SLC3A1 PREPL CAMKMT PPM1B",0,0],[163696,"Action myoclonus-renal failure syndrome",0,1,[0],[5,6],5,1,9699,"SCARB2",1,0],[163699,"Alveolar soft tissue sarcoma",0,11,[2],[3],8,2,11655,"TFE3 ASPSCR1",0,0],[163703,"Febrile infection-related epilepsy syndrome",0,1,[2],[3],4,0,15584,"",0,0],[163708,"Cryptogenic late-onset epileptic spasms",0,1,[],[2],6,0,15585,"",0,0],[163717,"Familial mesial temporal lobe epilepsy",0,1,[1],[5,6],6,1,15586,"CPA6",0,0],[163721,"Rolandic epilepsy-speech dyspraxia syndrome",0,3,[1,7],[4,0,1],6,2,15587,"SRPX2 GRIN2A",0,0],[163727,"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome",0,1,[0],[1],5,1,11970,"TBC1D24",0,0],[163746,"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease",0,1,[1],[0,1],5,1,12198,"SOX10",1,0],[163921,"Posttransplant acute limbic encephalitis",5,1,[],[3],8,0,15595,"",0,0],[163927,"Pustulosis palmaris et plantaris",0,5,[1,0],[],8,2,15597,"IL36RN AP1S3",0,0],[163931,"Acrodermatitis continua of Hallopeau",0,5,[0],[6],3,2,13626,"IL36RN AP1S3",1,0],[163934,"Atopic keratoconjunctivitis",0,10,[2],[3],2,0,15599,"",0,0],[163937,"X-linked intellectual disability, Najm type",0,3,[7],[0,1],5,1,10417,"CASK",1,0],[163956,"X-linked intellectual disability, Nascimento type",0,3,[5],[1],5,1,10461,"UBE2A",1,0],[163961,"X-linked cerebral-cerebellar-coloboma syndrome",0,3,[5],[0,1],5,0,10464,"",0,0],[163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",0,0,[7],[0,1],5,1,10463,"HDAC6",1,0],[163971,"X-linked intellectual disability, Cilliers type",0,3,[5],[0,1],5,0,15600,"",0,0],[163976,"X-linked intellectual disability, Van Esch type",1,3,[5],[0,1],5,1,15601,"POLA1",1,0],[163979,"X-linked intellectual disability-craniofacioskeletal syndrome",0,3,[4],[4,0,1],5,0,10412,"",0,0],[163985,"Hyperekplexia-epilepsy syndrome",0,3,[5],[0],5,1,10375,"ARHGEF9",1,0],[164001,"Rare odontal or periodontal disorder",4,6,[],[],8,0,15603,"",0,0],[164004,"Middle and/or inner ear anomaly",4,3,[],[],8,0,15604,"",0,0],[164726,"Acute myeloid leukemia and myelodysplastic syndromes related to radiation",0,11,[],[6,7],4,0,15608,"",0,0],[164736,"Familial advanced sleep-phase syndrome",0,1,[1],[2,5],6,3,15609,"CSNK1D PER2 PER3",0,0],[164823,"Rare acquired aplastic anemia",4,4,[],[],8,0,15610,"",0,0],[165652,"Rare genetic gastroenterological disease",4,12,[],[],8,0,15615,"",0,0],[165655,"Genetic intestinal disease",4,12,[],[],8,0,15616,"",0,0],[165658,"Genetic gastro-esophageal disease",4,12,[],[],8,0,15617,"",0,0],[165661,"Genetic pancreatic disease",4,12,[],[],8,0,15618,"",0,0],[165704,"Non-syndromic urogenital tract malformation",4,3,[],[],8,0,15619,"",0,0],[165707,"Syndromic urogenital tract malformation",4,3,[],[],8,0,15620,"",0,0],[165711,"Rare abdominal surgical disease",4,-1,[],[],8,0,15621,"",0,0],[165955,"Wound myiasis",0,8,[2],[6,7],5,0,15622,"",0,0],[165958,"Cavitary myiasis",0,8,[2],[3],5,0,15623,"",0,0],[165985,"Diazoxide-sensitive diffuse hyperinsulinism",3,15,[],[],8,0,15624,"",0,0],[165988,"Diazoxide-resistant diffuse hyperinsulinism",3,15,[],[],8,0,15625,"",0,0],[165991,"Exercise-induced hyperinsulinism",0,2,[1],[5,6],5,1,12396,"SLC16A1",1,0],[166002,"Multiple epiphyseal dysplasia due to collagen 9 anomaly",0,0,[1],[2,5],5,3,15627,"COL9A1 COL9A2 COL9A3",0,0],[166016,"Multiple epiphyseal dysplasia, Lowry type",0,0,[],[0],5,0,11109,"",0,0],[166024,"Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome",0,0,[0],[0,1],5,1,11778,"KIF7",0,0],[166029,"Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome",0,0,[],[2],5,0,12253,"",0,0],[166032,"Multiple epiphyseal dysplasia-miniepiphyses syndrome",0,0,[],[1,2],5,0,12254,"",0,0],[166035,"Brachydactyly-short stature-retinitis pigmentosa syndrome",1,0,[0],[1,2],5,1,9598,"CWC27",1,0],[166038,"Metaphyseal chondrodysplasia, Kaitila type",0,0,[],[0],5,0,9594,"",0,0],[166063,"Pontocerebellar hypoplasia type 4",2,3,[0],[4],5,1,9166,"TSEN54",1,0],[166073,"Pontocerebellar hypoplasia type 6",2,3,[0],[0],5,1,12683,"RARS2",1,0],[166078,"Von Willebrand disease type 1",2,4,[1],[3],8,1,8668,"VWF",1,0],[166081,"Von Willebrand disease type 2",2,4,[1,0],[3],4,0,13304,"",1,0],[166084,"Von Willebrand disease type 2A",2,4,[1,0],[],8,1,15628,"VWF",0,0],[166087,"Von Willebrand disease type 2B",2,4,[1],[],8,1,15629,"VWF",1,0],[166090,"Von Willebrand disease type 2M",2,4,[1],[],8,1,15630,"VWF",0,0],[166093,"Von Willebrand disease type 2N",2,4,[0],[],8,1,15631,"VWF",0,0],[166096,"Von Willebrand disease type 3",2,4,[0],[0,1],4,1,10191,"VWF",1,0],[166100,"Autosomal dominant otospondylomegaepiphyseal dysplasia",1,0,[1],[0,1],8,2,8490,"COL11A2 COL2A1",1,0],[166105,"FASTKD2-related infantile mitochondrial encephalomyopathy",0,1,[0],[0,1,5],5,1,15632,"FASTKD2",1,0],[166108,"Birk-Barel syndrome",0,3,[1],[1],5,1,12856,"KCNK9",1,0],[166113,"Bazex syndrome",0,5,[2],[6],5,0,10535,"",0,0],[166119,"Isolated osteopoikilosis",0,0,[1],[2,5,6],3,1,15634,"LEMD3",0,0],[166260,"Dentinogenesis imperfecta type 2",2,6,[1],[2],2,1,7441,"DSPP",1,0],[166265,"Dentinogenesis imperfecta type 3",2,6,[1],[2],8,1,7442,"DSPP",1,0],[166272,"Odontochondrodysplasia",1,0,[0],[0,1],5,1,100325,"TRIP11",0,0],[166277,"Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia",1,0,[4],[2],5,0,11501,"",0,0],[166282,"Hereditary sick sinus syndrome",0,7,[1,0],[6,7],5,4,12061,"SCN5A HCN4 MYH6 GNB2",0,0],[166286,"Porokeratotic eccrine ostial and dermal duct nevus",0,5,[2],[0,1],5,1,15635,"GJB2",0,0],[166291,"Dirofilariasis",0,8,[2],[3],8,0,15636,"",0,0],[166409,"Photosensitive occipital lobe epilepsy",0,1,[],[2,5,6],2,0,15643,"",0,0],[166412,"Hot water reflex epilepsy",0,1,[1],[3],3,1,13229,"SLC1A1",0,0],[166415,"Audiogenic epilepsy",0,1,[],[],8,0,15644,"",0,0],[166418,"Eating reflex epilepsy",0,1,[],[3],4,0,15645,"",0,0],[166421,"Orgasm-induced epilepsy",0,1,[],[6],5,0,15646,"",0,0],[166424,"Thinking epilepsy",0,1,[],[],6,0,15647,"",0,0],[166427,"Startle epilepsy",0,1,[],[],8,0,15648,"",0,0],[166430,"Micturition-induced epilepsy",0,1,[],[],8,0,15649,"",0,0],[166433,"Epilepsy with reading-induced seizures",0,1,[],[5,6],5,0,7560,"",0,0],[166463,"Epilepsy syndrome",4,1,[],[],8,0,15650,"",0,0],[166466,"Neurocutaneous syndrome with epilepsy",4,1,[],[],8,0,15651,"",0,0],[166469,"Chromosomal anomaly with epilepsy as a major feature",4,1,[],[],8,0,15652,"",0,0],[166472,"Monogenic disease with epilepsy",4,1,[],[],8,0,15653,"",0,0],[166475,"Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes",4,1,[],[],8,0,15654,"",0,0],[166478,"Cerebral malformation with epilepsy",4,1,[],[],8,0,15655,"",0,0],[166481,"Metabolic diseases with epilepsy",4,1,[],[],8,0,15656,"",0,0],[166484,"Inflammatory and autoimmune disease with epilepsy",4,1,[],[],8,0,15657,"",0,0],[166487,"Cerebral diseases of vascular origin with epilepsy",4,1,[],[],8,0,15658,"",0,0],[166490,"Infectious disease with epilepsy",4,1,[],[],8,0,15659,"",0,0],[166775,"Rare hemorrhagic disorder due to an acquired coagulation factor defect",4,4,[],[],8,0,15662,"",0,0],[167635,"Scleromyxedema",0,5,[],[6],5,0,15665,"",0,0],[167714,"Unclassified acute myeloid leukemia",4,11,[],[],4,0,15667,"",0,0],[167759,"Hereditary dentin defect",4,6,[],[],8,0,15668,"",0,0],[167762,"Rare disease with dentinogenesis imperfecta",4,6,[],[],8,0,15669,"",0,0],[167848,"Rare cardiomyopathy",4,7,[],[],8,0,4994,"",2,0],[168194,"Rare cardiac tumor",4,11,[],[],8,0,15673,"",0,0],[168443,"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome",0,0,[],[0,1],5,0,8469,"",0,0],[168451,"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome",0,0,[],[1],5,0,11124,"",0,0],[168454,"NANS-CDG",0,0,[0],[1],5,1,12495,"NANS",1,0],[168544,"Spondylometaphyseal dysplasia, Golden type",0,0,[5],[8],5,0,10738,"",0,0],[168549,"Axial spondylometaphyseal dysplasia",0,0,[0],[1,2],5,0,11211,"",1,0],[168552,"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome",0,0,[0],[1],5,0,11856,"",0,0],[168555,"Spondylometaphyseal dysplasia, A4 type",0,0,[0],[1],5,0,12185,"",0,0],[168558,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency",0,3,[1,0],[0,1],5,1,13400,"CYP11A1",1,0],[168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",1,3,[0],[0,1],5,1,11766,"DHH",1,0],[168566,"Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3",0,2,[0],[0,1],5,1,12512,"TSFM",1,0],[168569,"H syndrome",1,5,[0],[2],5,1,11273,"SLC29A3",1,0],[168572,"Native American myopathy",1,1,[0],[0,1],8,1,9722,"STAC3",1,0],[168577,"Hereditary cryohydrocytosis with reduced stomatin",0,4,[1],[0,1],5,1,12143,"SLC2A1",0,0],[168583,"Hereditary North American Indian childhood cirrhosis",2,17,[0],[0,1],5,1,11497,"UTP4",0,0],[168588,"Hyperandrogenism due to cortisone reductase deficiency",1,15,[1,0],[4,0,1],5,2,193,"H6PD HSD11B1",0,0],[168593,"Sudden infant death-dysgenesis of the testes syndrome",1,3,[0],[0,1],5,1,12124,"TSPYL1",1,0],[168598,"Methionine adenosyltransferase I/III deficiency",0,1,[0],[1],5,1,9607,"MAT1A",1,0],[168601,"Congenital enteropathy due to enteropeptidase deficiency",0,12,[0],[0,1],8,1,9173,"TMPRSS15",1,0],[168606,"Seborrhea-like dermatitis with psoriasiform elements",0,5,[1],[2],5,1,12446,"ZNF750",1,0],[168612,"Congenital deficiency in alpha-fetoprotein",8,21,[0],[4,0],5,1,14424,"AFP",1,0],[168615,"Hereditary persistence of alpha-fetoprotein",8,21,[1],[5],5,1,14425,"AFP",1,0],[168621,"Dysplasia of head of femur, Meyer type",0,0,[],[0,1],8,0,15678,"",0,0],[168624,"Familial scaphocephaly syndrome, McGillivray type",1,3,[1],[0,1],5,1,12307,"FGFR2",1,0],[168629,"Autosomal isolated thrombocytopenia with normal platelets size",7,4,[1,0],[],8,5,15679,"MASTL ETV6 CYCS ANKRD26 IKZF5",0,0],[168632,"Generalized basaloid follicular hamartoma syndrome",0,5,[1],[],8,0,11605,"",0,0],[168778,"Rare pervasive developmental disorder",4,1,[],[],8,0,15680,"",0,0],[168782,"Childhood disintegrative disorder",0,1,[2],[2],8,0,15681,"",0,0],[168796,"Heart-hand syndrome, Slovenian type",1,3,[1],[6],5,1,12417,"LMNA",1,0],[168803,"Primary peritoneal tumor",4,11,[],[],8,0,15682,"",0,0],[168807,"Primary malignant peritoneal tumor",4,11,[],[],8,0,15683,"",0,0],[168811,"Malignant peritoneal mesothelioma",0,11,[3,2],[6],3,0,5512,"",0,0],[168816,"Peritoneal inclusion cyst",0,11,[4],[6],6,0,6363,"",0,0],[168829,"Primary peritoneal carcinoma",0,11,[4],[6],8,1,15686,"BRCA1",0,0],[168940,"Chronic eosinophilic leukemia",0,11,[2],[2,5,6],8,2,15687,"FIP1L1 PDGFRA",0,0],[168943,"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",4,11,[],[],8,0,15688,"",0,0],[168947,"Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement",0,11,[],[],8,1,15689,"PDGFRA",0,0],[168950,"Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement",0,11,[],[],8,1,15690,"PDGFRB",0,0],[168953,"Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement",0,11,[],[],8,1,13296,"FGFR1",0,0],[168956,"Hypereosinophilic syndrome",3,4,[2,4],[3],5,0,15691,"",0,0],[168960,"Refractory anemia with excess blasts in transformation",0,11,[],[5,6,7],5,0,15692,"",0,0],[168966,"Composite lymphoma",0,11,[],[6,7],5,0,5710,"",0,0],[168984,"CLAPO syndrome",1,3,[4],[4,0,1],5,1,13125,"PIK3CA",0,0],[168999,"Malignant melanoma of the mucosa",0,11,[],[6,7],4,0,15694,"",0,0],[169079,"Cernunnos-XLF deficiency",0,16,[0],[0,1],5,1,12650,"NHEJ1",1,0],[169082,"Combined immunodeficiency due to CD3gamma deficiency",0,16,[0],[1],8,1,14276,"CD3G",1,0],[169085,"Susceptibility to respiratory infections associated with CD8alpha chain mutation",0,16,[0],[0,1],8,1,12161,"CD8A",1,0],[169090,"Combined immunodeficiency due to CRAC channel dysfunction",0,16,[0],[0,1],5,0,15695,"",0,0],[169095,"T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency",0,16,[0],[0,1],5,1,11132,"FOXN1",1,0],[169100,"Immunodeficiency due to CD25 deficiency",0,16,[0],[1],5,1,11664,"IL2RA",1,0],[169105,"Thymoma-hypogammaglobulinemia syndrome",0,16,[],[6],3,0,15696,"",0,0],[169110,"Immunoglobulin heavy chain deficiency",0,16,[],[],8,0,15697,"",0,0],[169139,"Transient hypogammaglobulinemia of infancy",0,16,[],[],8,0,15698,"",0,0],[169142,"Recurrent infections due to specific granule deficiency",0,16,[0],[0,1],8,2,9506,"CEBPE SMARCD2",0,0],[169147,"Immunodeficiency due to a classical component pathway complement deficiency",0,16,[0],[],8,8,15699,"C2 C4A C4B C1QA C1QB C1QC C1S C1R",0,0],[169150,"Immunodeficiency due to a late component of complement deficiency",0,16,[0],[],8,7,15700,"C5 C6 C7 C8A C8B C8G C9",0,0],[169154,"T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency",0,16,[0],[1],4,1,15701,"IL7R",0,0],[169157,"T-B+NK+ severe combined immunodeficiency due to CD45 deficiency",0,16,[0],[1],5,1,15702,"PTPRC",0,0],[169160,"T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency",0,16,[0],[1],6,3,15703,"CD3D CD3E CD247",0,0],[169163,"Familial scaphocephaly syndrome",4,3,[],[],8,0,15704,"",0,0],[169186,"Autosomal recessive centronuclear myopathy",0,1,[0],[0,1,2],8,4,15705,"RYR1 TTN BIN1 SPEG",0,0],[169189,"Autosomal dominant centronuclear myopathy",0,1,[1],[0,1,2,5,6],8,5,8048,"RYR1 DNM2 MYF6 BIN1 MTMR14",2,0],[169346,"DNA repair defect other than combined T-cell and B-cell immunodeficiencies",4,16,[],[],8,0,15707,"",0,0],[169349,"Immuno-osseous dysplasia",3,0,[],[],8,0,15708,"",0,0],[169355,"Immunodeficiency syndrome with autoimmunity",4,16,[],[],8,0,15709,"",0,0],[169361,"Immune dysregulation disease with immunodeficiency",4,16,[],[],8,0,15710,"",0,0],[169443,"Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells",4,16,[],[],8,0,15711,"",0,0],[169464,"Primary CD59 deficiency",0,16,[0],[0,1],5,1,12858,"CD59",1,0],[169467,"Recurrent Neisseria infections due to factor D deficiency",0,16,[0],[],8,1,13487,"CFD",1,0],[169793,"Severe hemophilia B",2,4,[5],[0,1],8,1,15715,"F9",0,0],[169796,"Moderate hemophilia B",2,4,[5],[0,1],8,1,15716,"F9",0,0],[169799,"Mild hemophilia B",2,4,[5],[0,1],8,1,15717,"F9",0,0],[169802,"Severe hemophilia A",2,4,[5],[0,1],8,1,15719,"F8",0,0],[169805,"Moderate hemophilia A",2,4,[5],[0,1],8,1,15720,"F8",0,0],[169808,"Mild hemophilia A",2,4,[5],[0,1],8,1,15721,"F8",0,0],[169826,"Congenital vitamin K-dependent coagulation factors deficiency",4,4,[],[],8,0,15722,"",0,0],[171220,"Isolated rectal duplication",6,3,[],[],8,0,15734,"",0,0],[171430,"Severe congenital nemaline myopathy",0,1,[0],[0,1],8,5,15735,"ACTA1 NEB KLHL40 KLHL41 LMOD3",0,0],[171433,"Intermediate nemaline myopathy",0,1,[1,0],[0],8,4,15736,"ACTA1 TPM3 NEB KLHL41",0,0],[171436,"Typical nemaline myopathy",0,1,[1,0],[4,0],8,6,15737,"ACTA1 CFL2 TPM2 NEB KLHL41 LMOD3",0,0],[171439,"Childhood-onset nemaline myopathy",0,1,[1],[2],8,7,15738,"ACTA1 TPM2 TPM3 NEB KBTBD13 MYPN KLHL41",0,0],[171442,"Adult-onset nemaline myopathy",0,1,[2],[6],8,0,15739,"",0,0],[171445,"Muscle filaminopathy",0,1,[1],[6],8,1,12289,"FLNC",1,0],[171607,"X-linked spastic paraplegia type 34",0,1,[5],[2,5,6],5,1,10418,"SPG34",0,0],[171612,"Autosomal dominant spastic paraplegia type 37",0,1,[1],[3],5,2,12766,"SPG37 KPNA3",0,0],[171617,"Autosomal dominant spastic paraplegia type 38",0,1,[1],[2],5,1,12867,"SPG38",0,0],[171622,"Autosomal recessive spastic paraplegia type 32",0,1,[0],[2],5,1,12643,"SPG32",0,0],[171629,"Autosomal recessive spastic paraplegia type 35",0,1,[0],[2,5],5,1,12866,"FA2H",1,0],[171673,"Limbal stem cell deficiency",0,10,[2],[1,2,5,6,7],2,0,25667,"",0,0],[171680,"Lissencephaly due to TUBA1A mutation",1,3,[1,2],[4,0],5,1,12703,"TUBA1A",1,0],[171684,"Idiopathic bilateral vestibulopathy",0,18,[],[],8,0,15743,"",0,0],[171690,"Metabolic myopathy due to lactate transporter defect",0,1,[1],[],8,1,9501,"SLC16A1",0,0],[171695,"Parkinsonian-pyramidal syndrome",0,1,[0],[5,6],8,2,9830,"SNCA FBXO7",1,0],[171700,"Diffuse panbronchiolitis",0,9,[3],[6],8,2,11490,"MUCL3 MUC5B",0,0],[171703,"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome",1,3,[0],[4,0],5,1,15745,"EOMES",0,0],[171706,"Short stature-delayed bone age due to thyroid hormone metabolism deficiency",0,15,[0],[1,2],8,1,800046,"SECISBP2",1,0],[171709,"Male infertility due to globozoospermia",2,20,[0],[6],8,9,15746,"SPATA16 DPY19L2 PICK1 GOPC SEPTIN4 ZPBP CATSPERT GGN PPP2R3C",1,0],[171719,"Cutis laxa-Marfanoid syndrome",1,3,[],[0,1],5,0,13574,"",0,0],[171723,"White sponge nevus",0,5,[1],[],8,2,15748,"KRT4 KRT13",0,0],[171829,"6q16 microdeletion syndrome",0,3,[4],[4,0,1],5,1,15749,"SIM1",0,0],[171839,"Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome",1,3,[],[0],5,0,15751,"",0,0],[171844,"Blindness-scoliosis-arachnodactyly syndrome",1,3,[1],[2,5],5,0,12907,"",0,0],[171848,"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome",0,1,[0],[2],5,1,12984,"ABHD12",1,0],[171851,"MEDNIK syndrome",0,3,[0],[4,0,1],5,2,12251,"AP1S1 AP1B1",1,0],[171863,"Autosomal dominant spastic paraplegia type 42",0,1,[1],[2,5,6],5,1,12928,"SLC33A1",0,0],[171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",0,0,[0],[0,1],5,1,13014,"ACAN",1,0],[171871,"Renal pseudohypoaldosteronism type 1",2,13,[1],[0,1],3,1,8329,"NR3C2",1,0],[171876,"Generalized pseudohypoaldosteronism type 1",2,13,[0],[0,1],4,3,9917,"SCNN1A SCNN1B SCNN1G",3,0],[171881,"Cap myopathy",0,1,[1],[0,1,2],5,3,15753,"TPM2 TPM3 MYPN",0,0],[171886,"Cylindrical spirals myopathy",0,1,[],[],8,0,8058,"",0,0],[171889,"Myopathy with hexagonally cross-linked tubular arrays",0,1,[],[],8,0,15755,"",0,0],[171895,"Myeloid hemopathy",4,11,[],[],8,0,15756,"",0,0],[171898,"Lymphoid hemopathy",4,11,[],[],8,0,15757,"",0,0],[171901,"Primary cutaneous T-cell lymphoma",4,11,[],[],2,0,15758,"",0,0],[171915,"B-cell non-Hodgkin lymphoma",4,11,[],[],2,0,15759,"",0,0],[171918,"T-cell non-Hodgkin lymphoma",4,11,[],[],4,0,15760,"",0,0],[171929,"Trisomy 10p syndrome",1,3,[],[0,1],6,0,15761,"",0,0],[172976,"Congenital myopathy with cores",3,1,[],[],8,0,15765,"",0,0],[174590,"Congenital hypogonadotropic hypogonadism",4,15,[1,0,5],[0,1],8,0,15770,"",1,0],[177101,"Rare adult hypothyroidism",4,15,[],[],8,0,15777,"",0,0],[177107,"Syndromic hypothyroidism",4,15,[],[],8,0,15778,"",0,0],[177901,"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1",7,3,[1],[4,0],8,6,15783,"SNRPN MAGEL2 NDN OCA2 SNORD116@ SNORD115@",0,0],[177904,"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2",7,3,[1],[4,0],8,6,15784,"SNRPN MAGEL2 NDN OCA2 SNORD116@ SNORD115@",0,0],[177907,"Prader-Willi syndrome due to translocation",7,3,[2],[4,0],8,1,15785,"SNRPN",0,0],[177910,"Prader-Willi syndrome due to imprinting mutation",7,3,[2],[4,0],8,5,15786,"SNRPN MAGEL2 NDN SNORD116@ SNORD115@",0,0],[177926,"Bleeding disorder in hemophilia A carriers",2,4,[5],[3],8,1,15787,"F8",0,0],[177929,"Bleeding disorder in hemophilia B carriers",2,4,[5],[],8,1,15788,"F9",0,0],[178025,"Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations",4,15,[],[],8,0,15789,"",0,0],[178029,"Arginine vasopressin deficiency",0,15,[1,0,7],[2],3,0,15790,"",0,0],[178040,"Rare peripheral precocious puberty",4,15,[],[],8,0,15791,"",0,0],[178045,"Transient congenital hypothyroidism",3,15,[],[],8,0,15792,"",0,0],[178145,"Moderate multiminicore disease with hand involvement",2,1,[1],[0,1,2],8,1,15793,"RYR1",0,0],[178148,"Antenatal multiminicore disease with arthrogryposis multiplex congenita",2,1,[],[4],8,0,15794,"",0,0],[178303,"8q22.1 microdeletion syndrome",1,3,[2,4],[0,1],5,0,11977,"",0,0],[178307,"Reticulate acropigmentation of Kitamura",0,5,[1],[2,5,6],5,1,14234,"ADAM10",1,0],[178311,"Isolated sternocostoclavicular hyperostosis",0,14,[],[],8,0,44355,"",0,0],[178315,"Undifferentiated embryonal sarcoma of the liver",0,11,[],[],8,0,15795,"",0,0],[178320,"Acute lung injury",5,9,[2],[3],2,0,15796,"",0,0],[178333,"Åland Islands eye disease",0,10,[5],[0,1],5,1,10371,"CACNA1F",1,0],[178338,"UV-sensitive syndrome",0,5,[0],[1],5,3,15797,"ERCC6 ERCC8 UVSSA",0,0],[178342,"Inflammatory myofibroblastic tumor",0,11,[],[],8,6,15798,"TPM3 ALK RANBP2 CLTC CARS1 TPM4",0,0],[178345,"Aromatase excess syndrome",0,15,[1],[2,5],5,1,7690,"CYP19A1",1,0],[178355,"Smith-McCort dysplasia",0,0,[0],[2],5,2,15799,"DYM RAB33B",0,0],[178364,"Syndromic microphthalmia type 5",1,3,[1],[4,0],5,1,12413,"OTX2",1,0],[178377,"Osteosclerosis-developmental delay-craniosynostosis syndrome",1,3,[1],[0,1],5,1,15800,"LRP5",0,0],[178382,"Congenital vertical talus",6,3,[1],[0,1],8,0,8652,"",0,0],[178389,"Osteopetrosis-hypogammaglobulinemia syndrome",0,0,[0],[0,1],5,1,12859,"TNFRSF11A",1,0],[178396,"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation",0,4,[1,2],[5],5,1,15801,"SERPINA1",0,0],[178400,"Distal myopathy with anterior tibial onset",0,1,[0],[5,6],5,1,11721,"DYSF",1,0],[178461,"X-linked myopathy with postural muscle atrophy",0,1,[5],[6],5,1,10401,"FHL1",1,0],[178464,"Hereditary myopathy with early respiratory failure",0,1,[1],[6],5,1,11362,"TTN",1,0],[178469,"Autosomal dominant non-syndromic intellectual disability",7,1,[1],[1,2],8,42,15802,"SCN2A KCNQ2 TCF4 CTNND2 CDH15 KIRREL3 DOCK8 MBD5 DLL1 GRIN1 DYNC1H1 CACNG2 EPB41L1 SCN8A CLTC ERBB4 PRICKLE2 SLC6A1 CUX1 HIVEP2 KCNQ5 KDM5B RAB11A CIC CSNK2B SEMA6B ASH1L SET CAMK2A CAMK2B GRIA1 BRSK2 GABBR1 ITSN1 TAOK1 TRPM3 NBEA SETD1B YWHAZ CACNA1I ARF3 DPYSL2",0,0],[178475,"Wound botulism",7,8,[],[3],4,0,15803,"",0,0],[178478,"Infant botulism",2,8,[],[0,1],4,0,15804,"",0,0],[178481,"Intestinal botulism",2,8,[],[3],8,0,15805,"",0,0],[178487,"Adult intestinal botulism",2,8,[],[6],6,0,15806,"",0,0],[178506,"Interstitial lung disease-brain calcification syndrome",0,1,[0],[2,5,6,7],5,2,100215,"FARSB FARSA",1,0],[178509,"Perry syndrome",0,1,[1],[6],5,1,8201,"DCTN1",1,0],[178512,"Folliculotropic mycosis fungoides",0,11,[2],[6],8,0,15808,"",0,0],[178517,"Localized pagetoid reticulosis",0,11,[2],[6],8,0,15809,"",0,0],[178522,"Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma",0,11,[],[],8,0,15810,"",0,0],[178528,"Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma",0,11,[],[],8,0,15811,"",0,0],[178533,"Primary cutaneous gamma/delta-positive T-cell lymphoma",0,11,[],[],8,0,15812,"",0,0],[178536,"Primary cutaneous marginal zone B-cell lymphoma",0,11,[],[],8,0,15813,"",0,0],[178540,"Primary cutaneous follicle center lymphoma",0,11,[],[],8,0,15814,"",0,0],[178544,"Primary cutaneous diffuse large B-cell lymphoma, leg type",0,11,[],[],8,0,6383,"",0,0],[178548,"Indolent primary cutaneous T-cell lymphoma",3,11,[],[],8,0,15816,"",0,0],[178551,"Aggressive primary cutaneous T-cell lymphoma",3,11,[],[],8,0,15817,"",0,0],[178554,"Aggressive primary cutaneous B-cell lymphoma",3,11,[],[],8,0,15818,"",0,0],[178557,"Indolent primary cutaneous B-cell lymphoma",3,11,[],[],8,0,15819,"",0,0],[178563,"Primary cutaneous B-cell lymphoma",4,11,[],[],8,0,15820,"",0,0],[178566,"Mycosis fungoides and variants",3,11,[2],[6],4,0,15821,"",0,0],[178996,"Acquired neutropenia",4,16,[],[],8,0,15822,"",0,0],[179006,"Primary immunodeficiency due to a defect in adaptive immunity",4,16,[],[],8,0,15823,"",0,0],[179490,"Obesity due to congenital leptin resistance",7,15,[],[],8,0,15825,"",0,0],[179494,"Obesity due to leptin receptor gene deficiency",7,15,[0],[1,2],8,1,13992,"LEPR",1,0],[180062,"Uterovaginal malformation",4,3,[],[],8,0,15828,"",0,0],[180065,"Non-syndromic uterovaginal malformation",4,3,[],[],8,0,15829,"",0,0],[180068,"Partial bilateral aplasia of the Müllerian ducts",3,3,[],[],8,0,15830,"",0,0],[180071,"Unilateral aplasia of the Müllerian ducts",3,3,[],[],8,0,15831,"",0,0],[180074,"True unicornuate uterus",6,3,[],[],8,0,15832,"",0,0],[180079,"Pseudounicornuate uterus",6,3,[],[],8,0,15833,"",0,0],[180086,"Didelphys uterus",6,3,[],[],8,0,15834,"",0,0],[180106,"Bicervical bicornuate uterus and blind hemivagina",2,3,[],[],8,0,15835,"",0,0],[180111,"Bicervical bicornuate uterus with patent cervix and vagina",2,3,[],[],8,0,15836,"",0,0],[180114,"Unicervical bicornuate uterus",6,3,[],[],8,0,15837,"",0,0],[180122,"Septate uterus",3,3,[],[],8,0,15839,"",0,0],[180126,"Complete septate uterus",6,3,[],[],8,0,15840,"",0,0],[180129,"Partial septate uterus",6,3,[],[],8,0,15841,"",0,0],[180134,"Bicornuate uterus",3,3,[],[],8,0,15842,"",0,0],[180139,"Uterine hypoplasia",6,3,[],[],8,0,15843,"",0,0],[180142,"Absence of uterine body",6,3,[],[],8,0,15844,"",0,0],[180145,"Uterine cervical aplasia and agenesis",6,3,[],[],8,0,15845,"",0,0],[180148,"Syndromic uterovaginal malformation",4,3,[],[],8,0,15846,"",0,0],[180151,"Rare vaginal malformation",4,3,[],[],8,0,15847,"",0,0],[180154,"Septate vagina",6,3,[],[],8,0,15848,"",0,0],[180157,"Longitudinal vaginal septum",2,3,[],[],8,0,15849,"",0,0],[180160,"Transverse vaginal septum",2,3,[],[],8,0,15850,"",0,0],[180163,"Rare breast malformation",4,3,[],[],8,0,15851,"",0,0],[180170,"Excess breast volume or number",4,3,[],[],8,0,15852,"",0,0],[180173,"Deficient breast volume or number",4,3,[],[],8,0,15853,"",0,0],[180176,"Familial juvenile hypertrophy of the breast",6,19,[2],[],8,0,7237,"",0,0],[180182,"Supernumerary breasts",6,3,[],[],8,0,15854,"",0,0],[180188,"Isolated congenital breast hypoplasia/aplasia",6,3,[0],[],8,1,15855,"PTPRF",0,0],[180193,"Syndromic breast hypoplasia/aplasia",4,3,[],[],8,0,15856,"",0,0],[180199,"Rare non-malformative gynecologic or obstetric disease",4,19,[],[],8,0,15857,"",0,0],[180202,"Rare non-malformative breast disease",4,19,[],[],8,0,15858,"",0,0],[180205,"Rare non-malformative uterovaginal or vulvovaginal disease",4,19,[],[],8,0,15859,"",0,0],[180208,"Anomaly of puberty or/and menstrual cycle",4,19,[],[],8,0,15860,"",0,0],[180220,"Rare uterine adnexal tumor",4,11,[],[],8,0,15861,"",0,0],[180226,"Embryonal carcinoma",0,11,[2],[2,5],5,0,5440,"",0,0],[180229,"Polyembryoma",0,11,[2],[5,6],5,0,15863,"",0,0],[180234,"Mixed germ cell tumor",0,11,[2],[2,5,6],5,0,15864,"",0,0],[180237,"Benign tumor of fallopian tubes",0,11,[],[],8,0,645,"",0,0],[180242,"Malignant tumor of fallopian tubes",0,11,[2],[6,7],3,0,2158,"",0,0],[180247,"Vaginal carcinoma",0,11,[],[6,7],4,0,15867,"",0,0],[180250,"Rare breast tumor",4,11,[],[],8,0,15868,"",0,0],[180253,"Rare benign breast tumor",4,11,[],[],8,0,15869,"",0,0],[180257,"Rare malignant breast tumor",4,11,[],[],8,0,15870,"",0,0],[180261,"Phyllodes tumor of the breast",0,11,[],[6],8,0,15871,"",0,0],[180267,"Giant adenofibroma of the breast",0,11,[],[],8,0,4150,"",0,0],[180275,"Paget disease of the nipple",0,11,[],[6],4,0,15873,"",0,0],[180303,"Rare non-malformative uterine adnexal disease",4,19,[],[],8,0,15875,"",0,0],[180312,"Rare vulvovaginal tumor",4,11,[],[],8,0,15876,"",0,0],[180766,"Malformative syndrome with dentinogenesis imperfecta",4,3,[],[],8,0,15877,"",0,0],[180772,"Rare disease with autism",4,1,[],[],8,0,15878,"",0,0],[180776,"Non-syndromic diaphragmatic or thoracic malformation",4,3,[],[],8,0,15879,"",0,0],[180779,"Syndromic diaphragmatic or thoracic malformation",4,3,[],[],8,0,15880,"",0,0],[180821,"Rare gastroesophageal tumor",4,11,[],[],8,0,15881,"",0,0],[180824,"Rare tumor of pancreas",4,11,[],[],8,0,15882,"",0,0],[181368,"Rare insulin-resistance syndrome",4,15,[],[],8,0,15885,"",0,0],[181371,"Rare diabetes mellitus type 1",4,15,[],[],8,0,15886,"",0,0],[181376,"Rare diabetes mellitus type 2",4,15,[],[],8,0,15887,"",0,0],[181381,"Other rare diabetes mellitus",4,15,[],[],8,0,15888,"",0,0],[181384,"Rare hypothalamic or pituitary disease",4,15,[],[],8,0,15889,"",0,0],[181387,"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism",4,15,[],[],8,0,15890,"",0,0],[181390,"Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature",4,15,[],[],8,0,15891,"",0,0],[181393,"Growth hormone insensitivity syndrome",4,15,[],[],8,0,15892,"",0,0],[181396,"Rare hypothyroidism",4,15,[],[],8,0,15893,"",0,0],[181399,"Rare hyperthyroidism",4,15,[],[],8,0,15894,"",0,0],[181402,"Syndrome with hypoparathyroidism",4,15,[],[],8,0,15895,"",0,0],[181405,"Rare hypoparathyroidism",4,15,[],[],8,0,15896,"",0,0],[181408,"Rare hyperparathyroidism",4,15,[],[],8,0,15897,"",0,0],[181412,"Adrenogenital syndrome",4,15,[],[],8,0,15898,"",0,0],[181415,"Rare primary hyperaldosteronism",4,15,[],[],8,0,15899,"",0,0],[181419,"Rare hypoaldosteronism",4,15,[],[],8,0,15900,"",0,0],[181422,"Rare hyperlipidemia",4,15,[],[],8,0,15901,"",0,0],[181428,"Familial Hyperalphalipoproteinemia",8,15,[1],[],8,3,15903,"CETP APOC3 SCARB1",0,0],[181431,"Rare hypolipidemia",4,15,[],[],8,0,15904,"",0,0],[181437,"Rare syndromic dyslipidemia",4,15,[],[],8,0,15905,"",0,0],[181441,"Rare disorder with hypergonadotropic hypogonadism",4,15,[],[],8,0,15906,"",0,0],[182040,"Rare aplastic anemia",4,4,[],[],8,0,15909,"",1,0],[182043,"Rare constitutional hemolytic anemia",4,4,[],[],8,0,15910,"",0,0],[182047,"Rare acquired hemolytic anemia",4,4,[],[],8,0,15911,"",0,0],[182050,"MYH9-related syndromic thrombocytopenia",0,4,[1],[0,1,2,5,6],4,1,15912,"MYH9",1,0],[182054,"Rare thrombotic disease of hematologic origin",4,4,[],[],8,0,15913,"",0,0],[182058,"Primary orthostatic hypotension",3,1,[],[],8,0,15914,"",0,0],[182061,"Cerebellar malformation",4,3,[],[],8,0,15915,"",0,0],[182064,"Rare neuroinflammatory or neuroimmunological disease",4,1,[],[],8,0,15916,"",0,0],[182067,"Glial tumor",3,11,[],[],2,0,21042,"",0,0],[182070,"Rare neurodegenerative disease",4,1,[],[],8,0,15918,"",0,0],[182079,"ARX-related epileptic encephalopathy",3,1,[],[],8,0,15921,"",0,0],[182083,"Channelopathy with epilepsy",4,1,[],[],8,0,15922,"",0,0],[182086,"Acquired peripheral neuropathy",4,1,[],[],8,0,15923,"",0,0],[182090,"Pulmonary arterial hypertension",4,9,[1,2],[3],3,0,15924,"",15,0],[182095,"Interstitial lung disease",4,9,[],[],2,0,15925,"",1,0],[182098,"Pneumoconiosis",3,9,[],[],8,0,15926,"",0,0],[182101,"Idiopathic eosinophilic pneumonia",3,9,[],[],8,0,15927,"",0,0],[182104,"Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease",4,9,[],[],8,0,15928,"",0,0],[182108,"Thoracic malformation",4,3,[],[],8,0,15929,"",0,0],[182111,"Respiratory malformation",4,3,[],[],8,0,15930,"",0,0],[182114,"Rare urogenital tumor",4,11,[],[],4,0,15931,"",0,0],[182117,"Non-syndromic urogenital tract malformation of female",4,3,[],[],8,0,15932,"",0,0],[182121,"Non-syndromic urogenital tract malformation of male",4,3,[],[],8,0,15933,"",0,0],[182124,"Non-syndromic urogenital tract malformation of male and female",4,3,[],[],8,0,15934,"",0,0],[182127,"Extragonadal germinoma",0,11,[],[],8,0,15935,"",0,0],[182130,"Tumor of endocrine glands",4,11,[],[],8,0,15936,"",0,0],[182222,"Rare systemic disease",4,14,[],[],8,0,0,"",0,0],[182228,"Systemic autoimmune disease",4,14,[],[],8,0,15939,"",0,0],[182231,"Rare rheumatologic disease",4,14,[],[],8,0,15940,"",0,0],[182734,"Genetic urticaria",3,5,[],[],8,0,26141,"",0,0],[183422,"Polymalformative genetic syndrome with increased risk of developing cancer",4,3,[1,0],[3],2,0,15945,"",0,0],[183426,"Genetic epidermal disorder",4,5,[],[],8,0,15946,"",0,0],[183435,"Inherited ichthyosis",4,5,[],[],8,0,15947,"",0,0],[183438,"Genetic erythrokeratoderma",4,5,[],[],8,0,26150,"",0,0],[183441,"Genetic acrokeratoderma",4,5,[],[],8,0,26151,"",0,0],[183444,"Genetic porokeratosis",4,5,[],[],8,0,26152,"",0,0],[183447,"Genetic epidermal appendage anomaly",4,5,[],[],8,0,21026,"",0,0],[183450,"Genetic hair anomaly",4,5,[],[],8,0,21027,"",0,0],[183454,"Genetic nail anomaly",4,5,[],[],8,0,21028,"",0,0],[183460,"Genetic sebaceous gland anomaly",4,5,[],[],8,0,21029,"",0,0],[183463,"Genetic pigmentation anomaly of the skin",4,5,[],[],8,0,26157,"",0,0],[183466,"Genetic hyperpigmentation of the skin",4,5,[],[],8,0,0,"",0,0],[183469,"Genetic hypopigmentation of the skin",4,5,[],[],8,0,0,"",0,0],[183472,"Genetic dermis disorder",4,5,[],[],8,0,26160,"",0,0],[183478,"Genetic skin vascular disorder",4,5,[],[],8,0,15948,"",0,0],[183481,"Genetic mixed dermis disorder",4,5,[],[],8,0,957001,"",0,0],[183484,"Genetic subcutaneous tissue disorder",4,5,[],[],8,0,15949,"",0,0],[183487,"Genetic skin tumor or hamartoma",4,11,[],[],8,0,15950,"",0,0],[183490,"Genetic photodermatosis",4,5,[],[],8,0,15951,"",0,0],[183494,"Genetic immune deficiency with skin involvement",4,16,[],[],8,0,26166,"",0,0],[183497,"Genetic neuromuscular disease",4,1,[],[],8,0,26167,"",0,0],[183500,"Genetic neurodegenerative disease",4,1,[],[],8,0,24237,"",2,0],[183503,"Genetic central nervous system and retinal vascular disease",4,1,[],[],8,0,15953,"",0,0],[183506,"Genetic central nervous system malformation",4,3,[],[],8,0,26170,"",0,0],[183509,"Rare genetic headache",4,1,[],[],8,0,15954,"",0,0],[183512,"Rare genetic epilepsy",4,1,[],[],8,0,15955,"",0,0],[183515,"Rare genetic medullar disease",4,1,[],[],8,0,26173,"",0,0],[183518,"Hereditary ataxia",4,1,[],[],8,0,100309,"",0,0],[183521,"Rare genetic movement disorder",4,1,[],[],8,0,15957,"",0,0],[183524,"Rare genetic bone disease",4,0,[],[],8,0,15958,"",0,0],[183527,"Genetic bone tumor",4,0,[],[],8,0,15959,"",0,0],[183530,"Rare genetic developmental defect during embryogenesis",4,3,[],[],8,0,15960,"",0,0],[183533,"Genetic multiple congenital anomalies/dysmorphic syndrome",4,3,[],[],8,0,43005,"",0,0],[183536,"Genetic congenital limb malformation",4,3,[],[],8,0,26180,"",0,0],[183539,"Genetic renal or urinary tract malformation",4,3,[],[],8,0,26181,"",0,0],[183542,"Genetic cranial malformation",4,3,[],[],8,0,26182,"",0,0],[183545,"Genetic digestive tract malformation",4,3,[],[],8,0,26183,"",0,0],[183548,"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen",4,3,[],[],8,0,26184,"",0,0],[183554,"Genetic respiratory or mediastinal malformation",4,3,[],[],8,0,26185,"",0,0],[183557,"Genetic developmental defect of the eye",4,3,[],[],8,0,26186,"",0,0],[183570,"Genetic malformation syndrome with short stature",4,3,[],[],8,0,26187,"",0,0],[183573,"Genetic overgrowth/obesity syndrome",4,3,[],[],8,0,26188,"",0,0],[183576,"Genetic branchial arch or oral-acral syndrome",4,3,[],[],8,0,26189,"",0,0],[183580,"Genetic malformation syndrome with odontal and/or periodontal component",4,3,[],[],8,0,26190,"",0,0],[183583,"Genetic head and neck malformation",4,3,[],[],8,0,15961,"",0,0],[183586,"Genetic glomerular disease",4,13,[],[],8,0,26192,"",0,0],[183589,"Genetic thrombotic microangiopathy",4,13,[],[],8,0,26193,"",0,0],[183592,"Genetic renal tubular disease",4,13,[],[],8,0,15962,"",3,0],[183595,"Genetic renal tumor",4,11,[],[],8,0,15963,"",0,0],[183607,"Genetic lens and zonula anomaly",4,10,[],[],8,0,0,"",0,0],[183616,"Genetic neuro-ophthalmological disease",4,10,[],[],8,0,957003,"",0,0],[183619,"Genetic eye tumor",4,10,[],[],8,0,15966,"",0,0],[183622,"Genetic respiratory malformation",4,3,[],[],8,0,26203,"",0,0],[183625,"Rare genetic diabetes mellitus",4,15,[],[],8,0,15967,"",10,0],[183628,"Rare genetic hypothalamic or pituitary disease",4,15,[],[],8,0,15968,"",0,0],[183631,"Rare genetic thyroid disease",4,15,[],[],8,0,15969,"",0,0],[183634,"Rare genetic parathyroid disease and phosphocalcic metabolism disorder",4,15,[],[],8,0,15970,"",0,0],[183637,"Rare genetic adrenal disease",4,15,[],[],8,0,15971,"",0,0],[183643,"Genetic polyendocrinopathy",4,15,[],[],8,0,26209,"",0,0],[183651,"Rare constitutional anemia",4,4,[],[],8,0,15972,"",0,0],[183654,"Rare genetic coagulation disorder",4,4,[],[],8,0,21181,"",0,0],[183660,"Severe combined immunodeficiency",3,16,[0,5],[0,1],3,0,15974,"",1,0],[183663,"Hyper-IgM syndrome with susceptibility to opportunistic infections",0,16,[],[],8,0,15975,"",0,0],[183666,"Hyper-IgM syndrome without susceptibility to opportunistic infections",0,16,[],[],8,0,15976,"",0,0],[183669,"Agammaglobulinemia",4,16,[],[],4,0,15977,"",2,0],[183675,"Recurrent infections associated with rare immunoglobulin isotypes deficiency",0,16,[4],[2],8,2,13576,"IGHG2 IGKC",1,0],[183678,"Hermansky-Pudlak syndrome due to AP-3 deficiency",2,16,[0],[0],5,0,11997,"",1,0],[183681,"Congenital functional phagocyte defect",4,16,[],[],8,0,15978,"",0,0],[183707,"Infantile LAD-like disease due to RAC2 deficiency",0,16,[1],[0,1],5,1,11988,"RAC2",1,0],[183710,"Genetic susceptibility to infections due to particular pathogens",4,16,[],[],8,0,15979,"",2,0],[183731,"Rare genetic gynecological and obstetrical diseases",4,19,[],[],8,0,15980,"",0,0],[183734,"Genetic gynecological tumor",4,11,[],[],8,0,15981,"",0,0],[183757,"Rare genetic intellectual disability",4,1,[],[],8,0,15982,"",0,0],[183763,"Rare genetic syndromic intellectual disability",4,1,[],[],8,0,15983,"",0,0],[183770,"Rare genetic immune disease",4,16,[],[],8,0,15984,"",0,0],[189427,"Cushing syndrome due to bilateral macronodular adrenocortical disease",0,15,[1,2],[3],5,3,9049,"GNAS ARMC5 KDM1A",0,0],[189466,"Familial isolated hypoparathyroidism due to impaired PTH secretion",2,15,[1,0],[],8,2,16000,"PTH AIRE",0,0],[199241,"Pulmonary capillary hemangiomatosis",0,9,[1,0,2],[3],6,1,9329,"EIF2AK4",1,0],[199244,"Nelson syndrome",9,15,[],[6,7],8,0,16035,"",0,0],[199247,"Corticosteroid-binding globulin deficiency",0,15,[8],[6],8,1,12675,"SERPINA6",1,0],[199251,"Ledderhose disease",0,5,[],[6],8,0,4684,"",0,0],[199257,"Superficial fibromatosis",3,5,[],[],8,0,16037,"",0,0],[199260,"Calcifying aponeurotic fibroma",0,11,[],[],8,0,16038,"",0,0],[199267,"Infantile digital fibromatosis",0,11,[],[0,1,2],5,0,16039,"",0,0],[199276,"Familial multiple lipomatosis",0,5,[],[1,5,6],8,0,7909,"",0,0],[199279,"Familial angiolipomatosis",0,5,[],[],8,0,8792,"",0,0],[199282,"Harlequin syndrome",0,1,[2],[3],5,0,16040,"",0,0],[199285,"Hereditary hypercarotenemia and vitamin A deficiency",0,2,[1],[1,2],8,1,7272,"BCO1",0,0],[199293,"Congenital microgastria",6,3,[],[4,0,1],5,0,16041,"",0,0],[199296,"Congenital isolated ACTH deficiency",0,15,[0],[0],8,1,8720,"TBX19",1,0],[199299,"Late-onset isolated ACTH deficiency",0,15,[2],[6],8,0,16042,"",0,0],[199302,"Isolated cleft lip",6,3,[3],[0,1],2,5,16043,"NECTIN1 TP63 IRF6 MSX1 TAF11",0,0],[199306,"Cleft lip/palate",6,3,[3],[0,1],1,13,16044,"NECTIN1 CDH1 TP63 IRF6 MSX1 PDGFRA BMP4 DLX4 DLG1 ARHGAP29 RIC1 COBLL1 ARHGEF38",4,0],[199310,"Tetragametic chimerism syndrome",1,3,[2,4],[0,1],8,0,16045,"",0,0],[199315,"Familial clubfoot with or without associated lower limb anomalies",1,3,[1],[0,1],8,0,16046,"",0,0],[199318,"15q13.3 microdeletion syndrome",1,3,[1,2],[2],3,1,12774,"CHRNA7",0,0],[199323,"Endophthalmitis",0,10,[],[],8,0,16047,"",0,0],[199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type",0,13,[1],[0,1],5,1,16048,"KCNA1",0,0],[199329,"Congenital myopathy, Paradas type",0,1,[0],[0,1],5,1,16049,"DYSF",0,0],[199332,"Endocrine-cerebro-osteodysplasia syndrome",1,3,[0],[0,1],5,1,12980,"CILK1",1,0],[199337,"Pancreatic insufficiency-anemia-hyperostosis syndrome",0,2,[0],[0,1],5,1,12992,"COX4I2",0,0],[199340,"BAG3-related myofibrillar myopathy",0,1,[1],[2,5],5,1,13061,"BAG3",1,0],[199343,"EAST syndrome",0,1,[0],[0,1],5,1,13005,"KCNJ10",1,0],[199348,"Thiamine-responsive encephalopathy",0,1,[0],[5],5,1,11841,"SLC19A3",1,0],[199351,"PLA2G6-related neurodegeneration, adult-onset",0,1,[0],[5,6],5,1,13060,"PLA2G6",1,0],[199354,"Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy",0,1,[0],[5,6],8,1,10829,"HTRA1",1,0],[199627,"Atypical autism",0,1,[],[],8,0,16052,"",0,0],[199630,"Isolated cerebellar vermis hypoplasia",6,3,[],[],8,0,16053,"",0,0],[199633,"Non-syndromic cerebral malformation",4,3,[],[],8,0,16054,"",1,0],[199639,"Syndrome with corpus callosum agenesis/dysgenesis as a major feature",4,3,[],[],8,0,16055,"",0,0],[199642,"Isolated congenital microcephaly",1,1,[],[4,0],8,0,16056,"",0,0],[199647,"Isolated encephalocele",6,3,[],[],8,0,16057,"",0,0],[200037,"Paroxysmal dystonia",3,1,[],[],8,0,16058,"",0,0],[200418,"Immunodeficiency with factor I anomaly",0,16,[0],[2,5,6],5,1,12594,"CFI",1,0],[200421,"Immunodeficiency with factor H anomaly",0,16,[1,0],[],8,1,16061,"CFH",1,0],[202940,"Anomaly of puberty or/and menstrual cycle of genetic origin",4,19,[],[],8,0,16072,"",0,0],[202948,"Syndromic microphthalmia-anophthalmia-coloboma",4,3,[],[],8,0,16073,"",1,0],[206428,"Hypoxanthine-guanine phosphoribosyltransferase deficiency",3,2,[5],[4,0,1,2,5,6],8,0,16088,"",0,0],[206436,"Infantile Krabbe disease",2,2,[0],[1],4,2,16089,"PSAP GALC",0,0],[206443,"Late-infantile/juvenile Krabbe disease",2,2,[0],[1,2,5],8,1,16090,"GALC",0,0],[206448,"Adult Krabbe disease",2,2,[0],[6],8,1,16091,"GALC",0,0],[206470,"Cystadenoma of childhood",0,11,[],[2],8,0,16092,"",0,0],[206484,"Gonadoblastoma",0,11,[],[5],8,0,2697,"",0,0],[206489,"Malignant germ cell tumor of the vagina",0,11,[],[],8,0,16094,"",0,0],[206492,"Vulvovaginal rhabdomyosarcoma",0,11,[],[],8,0,16095,"",0,0],[206538,"Malignant non-dysgerminomatous germ cell tumor of ovary",0,11,[4],[5],6,0,16096,"",0,0],[206546,"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers",0,1,[5],[6],8,1,16097,"DMD",0,0],[206549,"Anoctamin-5-related limb-girdle muscular dystrophy R12",0,1,[0],[2,5,6],6,1,12652,"ANO5",1,0],[206554,"Fukutin-related limb-girdle muscular dystrophy R13",0,1,[0],[1],5,1,12699,"FKTN",1,0],[206559,"POMT2-related limb-girdle muscular dystrophy R14",0,1,[0],[1],5,1,13162,"POMT2",0,0],[206564,"POMGNT1-related limb-girdle muscular dystrophy R15",0,1,[0],[2,5],5,1,13161,"POMGNT1",1,0],[206569,"Immune-mediated necrotizing myopathy",0,1,[2],[2,5,6,7],3,0,16098,"",0,0],[206572,"Overlap myositis",0,1,[2],[6],8,0,16099,"",0,0],[206575,"Rippling muscle disease with myasthenia gravis",0,1,[2],[],8,0,16100,"",0,0],[206580,"Autosomal recessive lower motor neuron disease with childhood onset",0,1,[0],[2],5,1,12608,"PLEKHG5",1,0],[206583,"Adult polyglucosan body disease",2,2,[0],[6],5,1,9897,"GBE1",1,0],[206586,"Neurolymphomatosis",0,1,[],[],8,0,16101,"",0,0],[206594,"Subacute inflammatory demyelinating polyneuropathy",0,1,[],[3],8,0,16102,"",0,0],[206599,"Isolated asymptomatic elevation of creatine phosphokinase",8,1,[1],[3],8,3,16103,"CAV3 ANO5 DAG1",0,0],[206613,"Infectious disease with peripheral neuropathy",4,8,[],[],8,0,16104,"",0,0],[206634,"Genetic skeletal muscle disease",4,1,[],[],8,0,0,"",0,0],[206638,"Acquired skeletal muscle disease",4,1,[],[],8,0,16105,"",0,0],[206644,"Progressive muscular dystrophy",4,1,[],[],8,0,16106,"",1,0],[206647,"Myotonic dystrophy",3,1,[],[],3,0,16107,"",0,0],[206650,"Autosomal dominant distal myopathy",4,1,[1],[],8,0,16108,"",0,0],[206653,"Autosomal recessive distal myopathy",4,1,[0],[],8,0,16109,"",0,0],[206656,"Non-dystrophic myopathy",4,1,[],[],8,0,16110,"",0,0],[206662,"Inclusion myopathy",4,1,[],[],8,0,16112,"",0,0],[206701,"Bulbospinal muscular atrophy",4,1,[],[],8,0,16113,"",0,0],[206704,"Bulbospinal muscular atrophy of childhood",3,1,[],[],8,0,16114,"",0,0],[206707,"Bulbospinal muscular atrophy of adult",3,1,[],[],8,0,16115,"",0,0],[206710,"Generalized bulbospinal muscular atrophy",3,1,[],[],8,0,16116,"",0,0],[206953,"Muscular lipidosis",4,1,[],[],8,0,16117,"",0,0],[206959,"Muscular glycogenosis",3,1,[],[],8,0,16118,"",0,0],[206966,"Mitochondrial myopathy",4,1,[],[],8,0,9637,"",1,0],[206970,"Myotonic syndrome",4,1,[],[],8,0,16120,"",0,0],[206973,"Congenital myotonia",3,1,[],[],3,0,16121,"",0,0],[206976,"Periodic paralysis",3,1,[],[],8,0,16122,"",0,0],[206982,"Muscular tumor",4,11,[],[],8,0,16123,"",0,0],[206988,"Infectious, fungal or parasitic myopathy",4,8,[],[],8,0,16125,"",0,0],[206991,"Viral myositis",0,8,[],[3],8,0,16126,"",0,0],[206994,"Bacterial myositis",0,8,[],[3],8,0,16127,"",0,0],[206997,"Parasitic myositis",4,8,[],[3],8,0,16128,"",0,0],[207000,"Fungal myositis",0,8,[],[3],8,0,16130,"",0,0],[207012,"Spinal muscular atrophy associated with central nervous system anomaly",3,1,[],[],8,0,16131,"",0,0],[207015,"Rare hereditary disease with peripheral neuropathy",4,1,[],[],8,0,16132,"",0,0],[207018,"Rare hereditary metabolic disease with peripheral neuropathy",4,1,[],[],8,0,16133,"",0,0],[207021,"Rare hereditary systemic disease with peripheral neuropathy",4,1,[],[],8,0,16134,"",0,0],[207025,"Rare hereditary neurologic disease with peripheral neuropathy",4,1,[],[],8,0,16135,"",0,0],[207028,"Cerebellar ataxia with peripheral neuropathy",4,1,[],[],8,0,16136,"",0,0],[207038,"Acute and subacute inflammatory demyelinating polyneuropathy",4,1,[],[],8,0,16137,"",0,0],[207046,"Malignant lymphoma with peripheral neuropathy",4,11,[],[],8,0,16138,"",0,0],[207049,"Qualitative or quantitative protein defects in neuromuscular diseases",4,1,[],[],8,0,16139,"",0,0],[207052,"Qualitative or quantitative defects of sarcoglycan",4,1,[],[],8,0,16140,"",0,0],[207060,"Qualitative or quantitative defects of alpha-sarcoglycan",4,1,[],[],8,0,16141,"",0,0],[207063,"Qualitative or quantitative defects of beta-sarcoglycan",4,1,[],[],8,0,16142,"",0,0],[207067,"Qualitative or quantitative defects of gamma-sarcoglycan",4,1,[],[],8,0,16143,"",0,0],[207070,"Qualitative or quantitative defects of delta-sarcoglycan",4,1,[],[],8,0,16144,"",0,0],[207073,"Qualitative or quantitative defects of dysferlin",4,1,[],[],8,0,16145,"",1,0],[207078,"Qualitative or quantitative defects of caveolin-3",4,1,[],[],8,0,16146,"",1,0],[207085,"Qualitative or quantitative defects of dystrophin",4,1,[],[],8,0,16147,"",0,0],[207090,"Qualitative or quantitative defects of collagen 6",4,1,[],[],8,0,0,"",0,0],[207094,"Laminin subunit alpha 2-related muscular dystrophy",4,1,[],[],8,0,16149,"",0,0],[207098,"Qualitative or quantitative defects of integrin alpha-7",4,1,[],[],8,0,16150,"",0,0],[207101,"Qualitative or quantitative defects of perlecan",4,1,[],[],8,0,16151,"",0,0],[207104,"Qualitative or quantitative defects of calpain",4,1,[],[],8,0,16152,"",0,0],[207107,"Qualitative or quantitative defects of TRIM32",4,1,[],[],8,0,16153,"",0,0],[207110,"Qualitative or quantitative defects of myotubularin",4,1,[],[],8,0,16154,"",0,0],[207113,"Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",4,1,[],[],8,0,16155,"",0,0],[207119,"Qualitative or quantitative defects of FKRP",4,1,[],[],8,0,16156,"",0,0],[207122,"Qualitative or quantitative defects of fukutin",4,1,[],[],8,0,16157,"",0,0],[208441,"Bilateral parasagittal parieto-occipital polymicrogyria",2,3,[0],[4,0,1],8,1,12986,"FIG4",1,0],[208444,"Bilateral frontal polymicrogyria",2,3,[],[4,0,1],8,0,16162,"",0,0],[208447,"Bilateral generalized polymicrogyria",2,3,[1],[4,0,1],8,1,13907,"GRIN1",1,0],[208508,"Autosomal dominant cerebellar ataxia type II",3,1,[1],[],8,0,16163,"",1,0],[208513,"Spinocerebellar ataxia type 29",0,1,[1,0],[0,1],6,1,7298,"ITPR1",1,0],[208524,"Herpetiform pemphigus",0,5,[],[],8,0,16164,"",0,0],[208593,"Genetic hypoparathyroidism",4,15,[],[],8,0,16165,"",0,0],[208596,"Genetic hyperparathyroidism",4,15,[],[],8,0,16166,"",0,0],[208650,"NLRP3-associated autoinflammatory disease",3,14,[1,2],[0,1,2,5],4,0,16168,"",1,0],[208974,"Chronic acquired demyelinating polyneuropathy",3,1,[],[],8,0,16169,"",0,0],[208978,"Chronic polyradiculoneuropathy",3,1,[],[],8,0,16170,"",0,0],[208984,"Acquired sensory ganglionopathy",4,1,[],[],8,0,16172,"",0,0],[208989,"Non-paraneoplastic sensory ganglionopathy",0,1,[],[],8,0,16173,"",0,0],[208999,"Paraneoplastic sensory ganglionopathy",0,1,[],[],8,0,16174,"",0,0],[209004,"Polyneuropathy associated with IgM monoclonal gammopathy",0,1,[2],[6,7],6,0,16176,"",0,0],[209007,"Systemic inflammatory disease associated with an acquired peripheral neuropathy",4,14,[],[],8,0,16177,"",0,0],[209010,"Peripheral neuropathy associated with monoclonal gammopathy",4,1,[],[],8,0,16178,"",0,0],[209013,"Acquired amyloid peripheral neuropathy",4,1,[],[],8,0,16179,"",0,0],[209016,"Hematological disease associated with an acquired peripheral neuropathy",4,4,[],[],8,0,16180,"",0,0],[209019,"Solid tumor associated with an acquired peripheral neuropathy",4,11,[],[],8,0,16181,"",0,0],[209024,"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase",4,1,[],[],8,0,16182,"",0,0],[209027,"Qualitative or quantitative defects of protein glycosyltransferase-like",4,1,[],[],8,0,16183,"",0,0],[209030,"Qualitative or quantitative defects of protein O-mannosyltransferase 1",4,1,[],[],8,0,16184,"",0,0],[209033,"Qualitative or quantitative defects of protein O-mannosyltransferase 2",4,1,[],[],8,0,16185,"",0,0],[209038,"Qualitative or quantitative defects of myofibrillar proteins",4,1,[],[],8,0,16186,"",0,0],[209041,"Qualitative or quantitative defects of desmin",4,1,[],[],8,0,16187,"",0,0],[209044,"Qualitative or quantitative defects of alphaB-cristallin",4,1,[],[],8,0,16188,"",0,0],[209047,"Qualitative or quantitative defects of filamin C",4,1,[],[],8,0,16189,"",0,0],[209050,"Qualitative or quantitative defects of protein ZASP",4,1,[],[],8,0,16190,"",0,0],[209053,"Qualitative or quantitative defects of titin",4,1,[],[],8,0,16191,"",0,0],[209056,"Qualitative or quantitative defects of telethonin",4,1,[],[],8,0,16192,"",0,0],[209059,"Qualitative or quantitative defects of alpha-actin",4,1,[],[],8,0,16193,"",0,0],[209182,"Qualitative or quantitative defects of nebulin",4,1,[],[],8,0,16194,"",0,0],[209185,"Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)",4,1,[],[],8,0,16195,"",0,0],[209188,"Qualitative or quantitative defects of emerin",4,1,[],[],8,0,16196,"",0,0],[209193,"Qualitative or quantitative defects of selenoprotein N1",4,1,[],[],8,0,16197,"",0,0],[209196,"Qualitative or quantitative defects of plectin",4,1,[],[],8,0,16198,"",0,0],[209199,"Qualitative or quantitative defects of protein SERCA1",4,1,[],[],8,0,16199,"",0,0],[209203,"Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -",4,1,[],[],8,0,16200,"",0,0],[209224,"Myotilinopathy",4,1,[],[],8,0,16201,"",0,0],[209335,"Autosomal dominant adult-onset proximal spinal muscular atrophy",0,1,[1],[6,7],8,1,8453,"VAPB",0,0],[209341,"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy",7,1,[1],[4,0,1,2,6],5,1,8026,"DYNC1H1",1,0],[209370,"MECP2-related severe neonatal encephalopathy",0,1,[5],[0,1],5,1,10397,"MECP2",1,0],[209867,"Isolated ocular Stickler syndrome",0,10,[1],[6],5,1,16202,"COL2A1",0,0],[209902,"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency",0,15,[8],[6],5,1,16203,"CYP7A1",0,0],[209905,"Brain-lung-thyroid syndrome",0,3,[1],[0,1],5,1,12593,"NKX2-1",1,0],[209908,"Isolated childhood apraxia of speech",0,1,[1],[2],5,1,11184,"FOXP2",1,0],[209916,"Extraskeletal myxoid chondrosarcoma",0,11,[2],[6],8,5,12825,"TFG EWSR1 TCF12 NR4A3 TAF15",0,0],[209919,"Idiopathic copper-associated cirrhosis",0,17,[4],[2],8,0,16204,"",0,0],[209932,"Cone dystrophy with supernormal rod response",0,10,[0],[2,5,6],5,1,12475,"KCNV2",1,0],[209943,"IRVAN syndrome",0,10,[2],[2,5,6],5,0,16205,"",0,0],[209951,"Autosomal spastic paraplegia type 18",0,1,[1,0],[1,2],5,1,12639,"ERLIN2",1,0],[209956,"Idiopathic uveal effusion syndrome",0,10,[4],[6],8,0,16206,"",0,0],[209959,"Phacoanaphylactic uveitis",0,10,[2],[6],8,0,16207,"",0,0],[209964,"Solitary rectal ulcer syndrome",0,12,[2],[6],8,0,16208,"",0,0],[209967,"Episodic ataxia type 6",0,1,[1],[2],5,1,12982,"SLC1A3",1,0],[209970,"Episodic ataxia type 7",0,1,[1],[2],5,0,12755,"",0,0],[209973,"Benign nocturnal alternating hemiplegia of childhood",0,1,[4],[1,2],5,0,16209,"",0,0],[209978,"Alternating hemiplegia",3,1,[],[],8,0,16210,"",0,0],[209981,"IRIDA syndrome",0,4,[0],[0,1],5,1,8788,"TMPRSS6",1,0],[210110,"Intermediate osteopetrosis",1,0,[0],[2],8,3,12679,"CLCN7 TCIRG1 PLEKHM1",1,0],[210115,"Sterile multifocal osteomyelitis with periostitis and pustulosis",0,14,[0],[0,1],5,1,13021,"IL1RN",1,0],[210122,"Congenital alveolar capillary dysplasia",0,9,[1],[0,1],5,1,9934,"FOXF1",1,0],[210128,"Urocanic aciduria",0,1,[0],[0,1],5,1,10167,"UROC1",1,0],[210133,"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome",0,5,[1],[0,1],5,0,16213,"",0,0],[210136,"Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome",0,9,[4],[6],5,0,16214,"",0,0],[210141,"Inherited congenital spastic tetraplegia",0,1,[0,4],[0,1],5,3,16215,"KANK1 GAD1 ADD3",0,0],[210144,"Lethal polymalformative syndrome, Boissel type",1,3,[0],[0,1],5,1,13050,"FTO",1,0],[210159,"Adult hepatocellular carcinoma",0,11,[2],[6,7],3,9,16216,"PIK3CA TP53 TSC1 TSC2 CTNNB1 CASP8 EGF AXIN1 PDGFRL",0,0],[210163,"Congenital lethal myopathy, Compton-North type",0,1,[0],[4,0],5,1,12929,"CNTN1",1,0],[210272,"Mal de débarquement",9,18,[2],[3],6,0,16217,"",0,0],[210548,"Macrocephaly-intellectual disability-autism syndrome",0,3,[1],[0,1],5,2,11537,"PTEN HEPACAM",1,0],[210571,"Dystonia 16",0,1,[0],[1,2],5,1,12789,"PRKRA",1,0],[210576,"Congenital temporomandibular joint ankylosis",0,25,[],[],8,0,16220,"",0,0],[210581,"Temporomandibular joint anomaly",4,25,[],[],8,0,16221,"",0,0],[210584,"Spindle cell hemangioma",0,3,[2],[2,5,6,7],6,0,16222,"",0,0],[210589,"Rare infantile hemangioma",3,3,[],[],8,0,16223,"",0,0],[211017,"Spinocerebellar ataxia type 30",0,1,[1],[6,7],5,1,13241,"SCA30",0,0],[211037,"Autosomal dominant proximal spinal muscular atrophy",3,1,[1],[],8,0,16224,"",0,0],[211047,"Specific learning disability",3,1,[],[],8,0,16225,"",0,0],[211053,"Specific language disorder",3,1,[],[],8,0,16226,"",1,0],[211062,"Hereditary episodic ataxia",4,1,[],[],8,0,16227,"",1,0],[211067,"Episodic ataxia type 5",0,1,[1],[3],5,1,13464,"CACNB4",0,0],[211237,"Rare vascular tumor",4,23,[],[],8,0,16228,"",0,0],[211240,"Genetic vascular anomaly",4,3,[],[],8,0,16229,"",0,0],[211247,"Rare capillary malformation",4,23,[],[],8,0,16231,"",0,0],[211252,"Slow-flow malformation, venous type",4,23,[],[],8,0,16232,"",0,0],[211255,"Slow-flow malformation, lymphatic type",4,23,[],[],8,0,16233,"",0,0],[211266,"Fast-flow vascular malformation",4,23,[],[],8,0,16234,"",0,0],[211277,"Syndromic combined vascular malformation",4,3,[],[],8,0,16235,"",0,0],[213500,"Rare ovarian cancer",4,11,[],[],2,0,8170,"",4,0],[213504,"Adenocarcinoma of ovary",0,11,[2],[6],3,1,2752,"INHBA",0,0],[213512,"Malignant mixed Müllerian tumor of the ovary",0,11,[],[6],4,0,3792,"",0,0],[213528,"Rare adenocarcinoma of the breast",0,11,[],[6],3,0,16250,"",0,0],[213531,"Metaplastic carcinoma of the breast",0,11,[],[6],5,0,6043,"",0,0],[213557,"Salivary gland type cancer of the breast",0,11,[],[6],5,0,100508,"",0,0],[213564,"Rare uterine cancer",4,11,[],[],8,0,16252,"",0,0],[213569,"Rare cancer of corpus uteri",4,11,[],[],8,0,16253,"",0,0],[213589,"Malignant mixed epithelial and mesenchymal tumor of corpus uteri",3,11,[],[],8,0,16255,"",0,0],[213600,"Adenosarcoma of the corpus uteri",0,11,[],[],8,0,2878,"",0,0],[213605,"Carcinofibroma of the corpus uteri",0,11,[],[],8,0,16258,"",0,0],[213610,"Carcinosarcoma of the corpus uteri",0,11,[],[],8,0,16259,"",0,0],[213615,"Rhabdomyosarcoma of the corpus uteri",0,11,[],[],8,0,16260,"",0,0],[213620,"Sarcoma of the corpus uteri",3,11,[],[],8,0,5210,"",1,0],[213625,"Leiomyosarcoma of the corpus uteri",0,11,[],[],8,0,16262,"",0,0],[213630,"Primitive neuroectodermal tumor of the corpus uteri",0,11,[],[],8,0,16263,"",0,0],[213711,"Endometrial stromal sarcoma",0,11,[],[],8,5,6745,"YWHAE JAZF1 SUZ12 NUTM2A NUTM2B",0,0],[213716,"Squamous cell carcinoma of the corpus uteri",0,11,[],[6],4,0,16266,"",0,0],[213721,"Undifferentiated carcinoma of the corpus uteri",0,11,[],[],8,0,16267,"",0,0],[213726,"Serous carcinoma of the corpus uteri",0,11,[],[],8,1,16268,"ERBB2",0,0],[213731,"High-grade neuroendocrine carcinoma of the corpus uteri",0,11,[],[],8,0,16269,"",0,0],[213736,"Low-grade neuroendocrine tumor of the corpus uteri",0,11,[],[],8,0,16270,"",0,0],[213746,"Transitional cell carcinoma of the corpus uteri",0,11,[],[6],5,0,16272,"",0,0],[213751,"Malignant germ cell tumor of the corpus uteri",0,11,[],[6,7],8,0,16273,"",0,0],[213761,"Rare cancer of cervix uteri",4,11,[],[],8,0,16274,"",0,0],[213767,"Squamous cell carcinoma of the cervix uteri",0,11,[],[6],3,0,6143,"",0,0],[213772,"Adenocarcinoma of the cervix uteri",0,11,[2],[6],3,0,5153,"",0,0],[213777,"High-grade neuroendocrine carcinoma of the cervix uteri",0,11,[],[6,7],8,0,16276,"",0,0],[213782,"Malignant mixed epithelial and mesenchymal tumor of cervix uteri",3,11,[],[],8,0,16277,"",0,0],[213787,"Carcinosarcoma of the cervix uteri",0,11,[],[6,7],5,0,2877,"",0,0],[213792,"Adenosarcoma of the cervix uteri",0,11,[],[5,6,7],5,0,2876,"",0,0],[213797,"Sarcoma of cervix uteri",3,11,[],[],8,0,16280,"",0,0],[213802,"Rhabdomyosarcoma of the cervix uteri",0,11,[],[2,5,6],8,0,16282,"",0,0],[213807,"Leiomyosarcoma of the cervix uteri",0,11,[],[6,7],5,0,16283,"",0,0],[213812,"Primitive neuroectodermal tumor of the cervix uteri",0,11,[],[6],5,0,16284,"",0,0],[213823,"Adenoid cystic carcinoma of the cervix uteri",0,11,[],[],8,0,6133,"",0,0],[213828,"Adenoid basal carcinoma of the cervix uteri",0,11,[],[],8,0,6132,"",0,0],[213833,"Glassy cell carcinoma of the cervix uteri",0,11,[],[],8,0,4542,"",0,0],[213837,"Malignant germ cell tumor of the cervix uteri",0,11,[],[],8,0,16289,"",0,0],[216675,"Transposition of the great arteries",4,3,[3,2],[0,1],2,0,153,"",0,0],[216694,"Congenitally corrected transposition of the great arteries",6,3,[2],[3],3,0,16301,"",0,0],[216718,"Isolated congenitally uncorrected transposition of the great arteries",2,3,[3,2],[0,1],8,4,16302,"CFC1 ZIC3 MED13L GDF1",0,0],[216729,"Congenitally uncorrected transposition of the great arteries with cardiac malformation",2,3,[3,2],[0,1],8,1,16303,"CFC1",0,0],[216796,"Osteogenesis imperfecta type 1",2,0,[1],[2],3,5,8146,"COL1A1 COL1A2 MBTPS2 P4HB SEC24D",0,0],[216804,"Osteogenesis imperfecta type 2",2,0,[1,0],[4,0],6,6,8147,"COL1A1 COL1A2 P3H1 CRTAP PPIB MESD",1,0],[216812,"Osteogenesis imperfecta type 3",2,0,[1,0,5],[0,1],4,13,9804,"COL1A1 COL1A2 P3H1 CRTAP MBTPS2 CREB3L1 PPIB SERPINH1 FKBP10 SERPINF1 BMP1 WNT1 TENT5A",2,0],[216820,"Osteogenesis imperfecta type 4",2,0,[1,0,5],[0,1],3,11,8148,"COL1A1 COL1A2 CRTAP MBTPS2 PPIB FKBP10 SP7 SERPINF1 TMEM38B WNT1 SPARC",1,0],[216828,"Osteogenesis imperfecta type 5",2,0,[1,0],[0,1],5,1,12591,"IFITM5",1,0],[216866,"Classic pantothenate kinase-associated neurodegeneration",2,1,[0],[1,2],8,1,16304,"PANK2",0,0],[216873,"Atypical pantothenate kinase-associated neurodegeneration",2,1,[0],[2,5,6],8,1,16305,"PANK2",0,0],[216972,"Niemann-Pick disease type C, severe perinatal form",2,2,[0],[4,0],8,2,16306,"NPC1 NPC2",0,0],[216975,"Niemann-Pick disease type C, severe early infantile neurologic onset",2,2,[0],[0,1],8,2,16307,"NPC1 NPC2",0,0],[216978,"Niemann-Pick disease type C, late infantile neurologic onset",2,2,[0],[2],8,2,16308,"NPC1 NPC2",0,0],[216981,"Niemann-Pick disease type C, juvenile neurologic onset",2,2,[0],[5],8,2,16309,"NPC1 NPC2",0,0],[216986,"Niemann-Pick disease type C, adult neurologic onset",2,2,[0],[6],8,2,16310,"NPC1 NPC2",0,0],[217008,"Segmental venous malformation",1,3,[2],[0,2],5,0,16311,"",0,0],[217012,"Spinocerebellar ataxia type 31",0,1,[1],[2,5,6,7],6,1,7296,"BEAN1",1,0],[217017,"Zechi-Ceide syndrome",1,3,[0],[0,1],5,0,13036,"",0,0],[217026,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",1,3,[4],[0,1],5,0,13053,"",0,0],[217055,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type A",0,1,[0],[2],5,1,12014,"GDAP1",1,0],[217059,"Isolated nail clubbing",6,3,[1,0],[0,1],8,1,7343,"HPGD",0,0],[217064,"5-fluorouracil poisoning",5,27,[2],[6,7],3,0,16312,"",0,0],[217067,"Pouchitis",5,12,[2],[3],2,0,5312,"",0,0],[217071,"Renal cell carcinoma",3,11,[2],[6],2,0,5086,"",9,0],[217074,"Rare carcinoma of pancreas",4,11,[2],[6],3,0,16314,"",0,0],[217080,"Pulmonary fungal infections in patients deemed at risk",5,9,[2],[3],2,0,0,"",0,0],[217085,"Mucopolysaccharidosis type 2, severe form",2,2,[5],[2],4,1,16315,"IDS",0,0],[217093,"Mucopolysaccharidosis type 2, attenuated form",2,2,[5],[2],8,1,16316,"IDS",0,0],[217253,"NMDA receptor encephalitis",0,1,[2],[3],8,0,21081,"",0,0],[217260,"Progressive multifocal leukoencephalopathy",0,8,[2],[3],5,0,16318,"",0,0],[217266,"BNAR syndrome",1,3,[0],[4,0],5,1,12165,"FREM1",1,0],[217330,"REN-related autosomal dominant tubulointerstitial kidney disease",2,13,[1],[1,2,5,6],5,1,13128,"REN",1,0],[217335,"RIN2 syndrome",1,3,[0],[0,1],5,1,13115,"RIN2",1,0],[217340,"17q21.31 microduplication syndrome",1,3,[2,4],[0,1],4,0,13298,"",0,0],[217346,"19q13.11 microdeletion syndrome",1,3,[2,4],[0,1],5,1,13090,"TSHZ3",0,0],[217371,"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",0,17,[0],[0,1],5,1,13111,"TRMU",1,0],[217377,"Microduplication Xp11.22p11.23 syndrome",1,3,[2,7],[0,1],5,1,10428,"IQSEC2",0,0],[217382,"Neurodegenerative syndrome due to cerebral folate transport deficiency",0,1,[0],[2],5,1,13110,"FOLR1",1,0],[217385,"17p13.3 microduplication syndrome",1,3,[2,4],[0,1],5,2,13182,"PAFAH1B1 YWHAE",0,0],[217390,"Combined immunodeficiency due to DOCK8 deficiency",0,16,[0],[0,1],5,1,9478,"DOCK8",1,0],[217396,"Progressive polyneuropathy with bilateral striatal necrosis",0,1,[0],[2],5,1,13382,"SLC25A19",1,0],[217399,"Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation",0,1,[4],[0,1],5,0,16319,"",0,0],[217407,"Hereditary hypotrichosis with recurrent skin vesicles",0,5,[0],[0,1],5,1,13136,"DSC3",1,0],[217454,"Rare hereditary thrombophilia",3,4,[],[],8,0,16320,"",0,0],[217467,"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency",0,4,[1],[],8,1,13143,"HRG",1,0],[217557,"Pulmonary interstitial glycogenosis",0,9,[2],[0,1],8,0,16321,"",0,0],[217560,"Neuroendocrine cell hyperplasia of infancy",0,9,[2],[0,1],8,0,16322,"",0,0],[217563,"Neonatal acute respiratory distress syndrome due to SP-B deficiency",0,9,[0],[0],5,1,9929,"SFTPB",1,0],[217566,"Chronic respiratory distress with surfactant metabolism deficiency",0,9,[1],[3],8,1,16323,"SFTPC",0,0],[217569,"Rare hypertrophic cardiomyopathy",4,7,[],[],8,0,5045,"",18,0],[217572,"Glycogen storage disease with hypertrophic cardiomyopathy",4,7,[],[],8,0,16325,"",0,0],[217581,"Lysosomal disease with hypertrophic cardiomyopathy",4,7,[],[],8,0,16326,"",0,0],[217587,"Mitochondrial disease with hypertrophic cardiomyopathy",4,7,[],[],8,0,16327,"",0,0],[217591,"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy",4,7,[],[],8,0,16328,"",0,0],[217595,"Syndrome associated with hypertrophic cardiomyopathy",4,7,[],[],8,0,26989,"",0,0],[217598,"Non-familial hypertrophic cardiomyopathy",4,7,[],[],8,0,16330,"",0,0],[217604,"Dilated cardiomyopathy",4,7,[],[3],8,0,5021,"",17,0],[217607,"Familial dilated cardiomyopathy",4,7,[],[],8,0,16333,"",0,0],[217610,"Neuromuscular disease with dilated cardiomyopathy",4,7,[],[],8,0,16334,"",0,0],[217613,"Mitochondrial disease with dilated cardiomyopathy",4,7,[],[],8,0,16335,"",0,0],[217616,"Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy",4,7,[],[],8,0,16336,"",0,0],[217619,"Syndrome associated with dilated cardiomyopathy",4,7,[],[],8,0,16337,"",0,0],[217622,"Sensorineural deafness with dilated cardiomyopathy",0,7,[1],[2],5,1,11541,"EYA4",1,0],[217629,"Non-familial dilated cardiomyopathy",4,7,[],[],8,0,16338,"",0,0],[217632,"Restrictive cardiomyopathy",4,7,[],[],8,0,5201,"",0,0],[217635,"Familial restrictive cardiomyopathy",4,7,[],[],8,0,16340,"",0,0],[217638,"Lysosomal disease with restrictive cardiomyopathy",4,7,[],[],8,0,16341,"",0,0],[217656,"Inherited isolated arrhythmogenic cardiomyopathy",0,7,[1],[8],8,0,16342,"",1,0],[217678,"Unclassified cardiomyopathy",4,7,[],[],8,0,16343,"",0,0],[217720,"Non-familial restrictive cardiomyopathy",4,7,[],[],8,0,16345,"",0,0],[218436,"Rare cardiac rhythm disease",4,7,[],[],8,0,16347,"",0,0],[218439,"Non-genetic cardiac rhythm disease",4,7,[],[],8,0,16348,"",0,0],[220295,"Xeroderma pigmentosum-Cockayne syndrome complex",0,5,[0],[0,1],5,4,16354,"ERCC2 ERCC4 ERCC3 ERCC5",0,0],[220386,"Semilobar holoprosencephaly",2,3,[3,2],[0,1],8,18,700419,"PTCH1 SHH SIX3 SMC1A TGIF1 ZIC2 FGFR1 GLI2 CRIPTO FOXH1 STIL FGF8 DISP1 CDON NODAL DLL1 GAS1 STAG2",0,0],[220393,"Diffuse cutaneous systemic sclerosis",2,14,[3,2],[6],3,5,16356,"HLA-DRB1 CCN2 CAV1 IRF5 CCR6",0,0],[220402,"Limited cutaneous systemic sclerosis",2,14,[3,2],[6],8,6,16358,"HLA-DRB1 CCN2 CAV1 IRF5 KIAA0319L CCR6",0,0],[220407,"Limited systemic sclerosis",2,14,[2],[6],6,1,16359,"HLA-DRB1",0,0],[220436,"Quebec platelet disorder",0,4,[1],[6],4,1,11136,"PLAU",1,0],[220448,"Macrothrombocytopenia with mitral valve insufficiency",0,4,[],[2],5,0,16360,"",0,0],[220452,"Isolated hereditary giant platelet disorder",4,4,[],[],8,0,16361,"",0,0],[220460,"Attenuated familial adenomatous polyposis",0,12,[1,0],[6],8,1,16362,"APC",0,0],[220465,"Laron syndrome with immunodeficiency",0,15,[1,0],[0,1,2],5,1,100211,"STAT5B",1,0],[220489,"Rare hereditary hemochromatosis",4,2,[1,0],[3],8,0,16363,"",0,0],[220493,"Joubert syndrome with ocular anomaly",2,3,[0],[0,1],8,5,16364,"AHI1 MKS1 INPP5E CEP41 CEP120",0,0],[220497,"Joubert syndrome with renal defect",2,3,[0],[0,1],8,3,12308,"NPHP1 RPGRIP1L TMEM237",1,0],[221008,"Rothmund-Thomson syndrome type 1",2,3,[0],[0,1],5,1,16368,"ANAPC1",1,0],[221016,"Rothmund-Thomson syndrome type 2",2,3,[0],[0,1],5,1,16369,"RECQL4",1,0],[221039,"Hereditary sclerosing poikiloderma, Weary type",0,5,[],[2],5,0,8261,"",0,0],[221043,"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome",0,5,[1],[1],5,1,14310,"FAM111B",1,0],[221046,"Poikiloderma with neutropenia",0,5,[0],[0,1,2],5,1,11405,"USB1",1,0],[221054,"Acrocephalopolydactyly",1,3,[0],[0,1],5,0,8709,"",0,0],[221061,"Familial cerebral cavernous malformation",1,3,[1],[3],2,4,31037,"PIK3CA CCM2 KRIT1 PDCD10",0,0],[221074,"Marchiafava-Bignami disease",0,1,[],[6],5,0,16370,"",0,0],[221078,"Combined hyperactive dysfunction syndrome of the cranial nerves",0,1,[],[],8,0,16371,"",0,0],[221083,"Hemifacial spasm",0,1,[],[6,7],2,0,7713,"",0,0],[221091,"Trigeminal neuralgia",0,1,[2],[5,6,7],3,0,8599,"",0,0],[221098,"Glossopharyngeal neuralgia",0,1,[],[5,6,7],4,0,16372,"",0,0],[221109,"Cranial neuralgia",3,1,[],[],8,0,16374,"",0,0],[221114,"Acquired peripheral movement disorder",4,1,[],[],8,0,16375,"",0,0],[221117,"Gerstmann syndrome",0,1,[],[],8,0,5773,"",0,0],[221120,"Pseudoaminopterin syndrome",1,3,[],[4,0],5,0,10865,"",0,0],[221126,"Fowler vasculopathy",1,3,[0],[4,0],5,1,9168,"FLVCR2",1,0],[221139,"Combined immunodeficiency with facio-oculo-skeletal anomalies",0,3,[3],[0],5,2,13226,"PIK3CD KNSTRN",0,0],[221142,"Confetti-like macular atrophy",0,5,[],[6],5,0,16376,"",0,0],[221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",1,3,[0],[0],5,2,13170,"LTBP4 LTBP4",1,0],[222628,"Hereditary poikiloderma",4,5,[],[],8,0,16382,"",0,0],[223713,"Mitochondrial oxidative phosphorylation disorder",4,2,[],[],8,0,16387,"",1,0],[223727,"Bone sarcoma",3,11,[],[],3,0,21054,"",0,0],[223735,"Lymphoma",4,11,[],[],8,0,5062,"",0,0],[225123,"TFR2-related hemochromatosis",0,2,[0],[5,6],5,1,11417,"TFR2",1,0],[225147,"Sporadic infantile bilateral striatal necrosis",0,3,[2],[3],4,0,16394,"",0,0],[225154,"Familial infantile bilateral striatal necrosis",0,3,[1,0,6],[0,1],5,4,10080,"ADAR MT-ATP6 NUP62 NUP54",1,0],[225681,"Lysosomal disease with epilepsy",4,1,[],[],8,0,16397,"",0,0],[225686,"Peroxisomal disease with epilepsy",4,1,[],[],8,0,16398,"",0,0],[225689,"Amino acid or protein metabolism disease with epilepsy",4,1,[],[],8,0,16399,"",0,0],[225692,"Metal transport or utilization disorder with epilepsy",4,1,[],[],8,0,16400,"",0,0],[225696,"Energy metabolism disorder with epilepsy",4,1,[],[],8,0,16401,"",0,0],[225700,"Mitochondrial disease with epilepsy",4,1,[],[],8,0,16402,"",0,0],[225703,"Mitochondrial disease with peripheral neuropathy",4,1,[],[],8,0,16403,"",0,0],[225707,"Metabolic neurotransmission anomaly with epilepsy",4,1,[],[],8,0,16404,"",0,0],[225710,"Sterol metabolism disorder with epilepsy",4,1,[],[],8,0,16405,"",0,0],[225713,"Other metabolic disease with epilepsy",4,1,[],[],8,0,16406,"",0,0],[226292,"Permanent congenital hypothyroidism",4,15,[0,2],[0,1],2,0,16408,"",0,0],[226295,"Primary congenital hypothyroidism",3,15,[],[],2,0,16409,"",0,0],[226298,"Central congenital hypothyroidism",3,15,[],[],8,0,16410,"",0,0],[226307,"Hypothyroidism due to deficient transcription factors involved in pituitary development or function",0,15,[1,0],[1],8,5,16411,"POU1F1 PROP1 HESX1 LHX3 LHX4",0,0],[226313,"Congenital hypothyroidism due to maternal intake of antithyroid drugs",0,15,[],[0,1],8,0,16413,"",0,0],[226316,"Genetic transient congenital hypothyroidism",0,15,[0],[0,1],8,1,44331,"DUOX2",1,0],[227510,"Multiple system atrophy, cerebellar type",2,1,[2],[6],8,1,16418,"COQ2",0,0],[227796,"Fundus albipunctatus",0,10,[1,0],[2],8,3,7639,"PRPH2 RDH5 RLBP1",3,0],[227972,"Toxic oil syndrome",0,27,[2],[3],6,0,16421,"",0,0],[227976,"Autosomal recessive optic atrophy, OPA7 type",0,10,[0],[2],5,1,13069,"TMEM126A",1,0],[227982,"Autoimmune polyendocrinopathy type 3",0,15,[3],[3],8,0,16422,"",0,0],[227990,"Autoimmune polyendocrinopathy type 4",0,15,[3],[6],8,0,16423,"",0,0],[228000,"Idiopathic CD4 lymphocytopenia",8,16,[2],[6],8,0,14226,"",0,0],[228003,"T-B+NK+ severe combined immunodeficiency due to CORO1A deficiency",0,16,[0],[0,1,2],5,1,14168,"CORO1A",1,0],[228012,"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome",0,18,[1],[3],5,1,16424,"MYO6",0,0],[228113,"Anal fistula",5,12,[2],[3],2,0,754,"",0,0],[228116,"Hughes-Stovin syndrome",0,14,[2],[6],5,0,16425,"",0,0],[228119,"Fusariosis",0,8,[2],[3],8,0,16426,"",0,0],[228123,"Coccidioidomycosis",0,8,[2],[3],8,0,5706,"",0,0],[228140,"Idiopathic ventricular fibrillation",0,7,[1,2],[3],8,2,100234,"SCN5A DPP6",0,0],[228145,"Multiple sclerosis variant",4,1,[],[],8,0,16428,"",0,0],[228157,"Marburg acute multiple sclerosis",0,1,[3],[6],8,0,16429,"",0,0],[228165,"Baló concentric sclerosis",0,1,[3],[6],8,0,16430,"",0,0],[228169,"Autosomal dominant striatal neurodegeneration",0,1,[1],[6],5,1,211,"PDE8B",0,0],[228174,"Autosomal dominant Charcot-Marie-Tooth disease type 2N",0,1,[1],[3],5,1,13212,"AARS1",1,0],[228179,"Autosomal dominant Charcot-Marie-Tooth disease type 2M",0,1,[1],[3],5,1,16431,"DNM2",0,0],[228184,"Heart-hand syndrome",4,3,[],[],8,0,16432,"",0,0],[228190,"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome",1,3,[1],[0,1],5,0,11454,"",0,0],[228215,"Genetic dermis elastic tissue disorder",4,5,[],[],8,0,0,"",0,0],[228218,"Acquired dermis elastic tissue disorder",4,5,[],[],8,0,16434,"",0,0],[228221,"Acquired dermis elastic tissue disorder with decreased elastic tissue",4,5,[],[],8,0,16435,"",0,0],[228224,"Acquired dermis elastic tissue disorder with increased elastic tissue",4,5,[],[],8,0,16436,"",0,0],[228227,"Late-onset focal dermal elastosis",0,5,[2],[6],5,0,16437,"",0,0],[228236,"Linear focal elastosis",0,5,[2],[3],5,0,16438,"",0,0],[228240,"Elastoderma",0,5,[2],[5,6],5,0,16439,"",0,0],[228243,"Elastofibroma dorsi",0,5,[2],[6],8,0,16440,"",0,0],[228247,"Acquired pseudoxanthoma elasticum",0,5,[2],[6],5,0,16441,"",0,0],[228254,"Elastoma",0,5,[2],[2],8,0,16442,"",0,0],[228264,"Papular elastorrhexis",0,5,[2],[3],8,0,16443,"",0,0],[228272,"Primary anetoderma",0,5,[2],[3],8,0,16444,"",0,0],[228277,"Familial anetoderma",0,5,[1,0],[3],5,0,16445,"",0,0],[228285,"Acquired cutis laxa",0,5,[2],[1,2,5,6,7],7,0,16446,"",0,0],[228290,"White fibrous papulosis of the neck",0,5,[2],[6],8,0,16447,"",0,0],[228293,"Pseudoxanthoma elasticum-like papillary dermal elastolysis",0,5,[2],[6],8,0,16448,"",0,0],[228299,"Mid-dermal elastolysis",0,5,[2],[6],8,0,16449,"",0,0],[228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",2,2,[0],[1,2,5,6],6,1,9704,"CPT2",0,0],[228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",2,2,[0],[0,1],5,1,10914,"CPT2",0,0],[228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",2,2,[0],[0],5,1,12136,"CPT2",1,0],[228312,"Autoimmune hemolytic anemia, cold type",3,4,[3],[3],8,0,16450,"",0,0],[228329,"CLN1 disease",0,1,[0],[1],5,0,9744,"",1,0],[228337,"CLN10 disease",0,1,[0],[4,1,6],5,0,12414,"",1,0],[228343,"CLN4 disease",0,1,[],[6],5,1,8083,"DNAJC5",1,0],[228346,"CLN3 disease",0,1,[0],[1],5,0,8767,"",1,0],[228349,"CLN2 disease",0,1,[0],[1],5,0,8769,"",1,0],[228354,"CLN8 disease",0,1,[0],[1],5,0,10830,"",1,0],[228360,"CLN5 disease",0,1,[],[1],5,0,9745,"",1,0],[228363,"CLN6 disease",0,1,[0],[1],5,0,11144,"",1,0],[228366,"CLN7 disease",0,1,[],[1],5,1,12588,"MFSD8",1,0],[228371,"Foodborne botulism",2,8,[],[3],4,0,16453,"",0,0],[228374,"Charcot-Marie-Tooth disease type 2B5",0,1,[0],[1,2],5,1,16454,"NEFL",0,0],[228379,"Virus-associated trichodysplasia spinulosa",0,5,[2],[3],5,0,16455,"",0,0],[228384,"5q14.3 microdeletion syndrome",7,3,[2,4],[0,1],5,1,16456,"MEF2C",0,0],[228387,"Spondylo-megaepiphyseal-metaphyseal dysplasia",0,0,[0],[0,1],5,1,13228,"NKX3-2",1,0],[228390,"Frontonasal dysplasia-alopecia-genital anomalies syndrome",1,3,[0],[4,0,1],5,1,13268,"ALX4",1,0],[228396,"Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome",1,10,[0],[0,1],5,0,16457,"",0,0],[228399,"8q12 microduplication syndrome",1,3,[2,4],[0,1],5,0,16458,"",0,0],[228402,"2q23.1 microdeletion syndrome",1,3,[2,4],[0,1],5,1,16459,"MBD5",0,0],[228410,"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome",1,3,[1],[0,1],5,0,16460,"",0,0],[228415,"5q35 microduplication syndrome",1,3,[2,4],[2],5,1,16461,"NSD1",0,0],[228423,"GATA2 deficiency spectrum",0,16,[1,2],[6],5,1,13607,"GATA2",1,0],[228426,"Syndromic multisystem autoimmune disease due to Itch deficiency",0,3,[0],[0,1],5,1,13245,"ITCH",1,0],[228429,"Congenital generalized  lipodystrophy type 4",2,15,[0],[],8,1,13225,"CAVIN1",1,0],[229717,"Non-syndromic agammaglobulinemia",0,16,[1,0,5],[0,1],4,0,16462,"",0,0],[229720,"Syndromic agammaglobulinemia",4,16,[],[],8,0,16463,"",0,0],[230800,"Toxin-mediated infectious botulism",2,8,[],[3],6,0,16468,"",0,0],[230839,"Classical-like Ehlers-Danlos syndrome type 1",0,14,[0],[0,1,2],5,1,11670,"TNXB",1,0],[230851,"Cardiac-valvular Ehlers-Danlos syndrome",0,14,[0],[0,1],5,1,9159,"COL1A2",1,0],[230857,"Ehlers-Danlos/osteogenesis imperfecta syndrome",0,14,[1],[0,1],8,2,16470,"COL1A1 COL1A2",0,0],[231013,"Congenital trigeminal anesthesia",0,1,[2],[0,1],8,0,7384,"",0,0],[231031,"Erythema palmare hereditarium",0,5,[1],[0,1],8,0,7570,"",0,0],[231040,"Familial generalized lentiginosis",0,5,[1,4],[3],8,1,7891,"SASH1",0,0],[231080,"High-grade dysplasia in patients with Barrett esophagus",5,12,[2],[3],2,0,0,"",0,0],[231108,"Rhabdoid tumor predisposition syndrome",0,11,[1],[2],5,2,16473,"SMARCB1 SMARCA4",0,0],[231111,"Drug-induced lupus erythematosus",0,14,[2],[3],8,0,16474,"",0,0],[231117,"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15",7,3,[],[0,1],8,3,16475,"H19 KCNQ1OT1 IGF2",1,0],[231120,"Beckwith-Wiedemann syndrome due to CDKN1C mutation",7,3,[1],[0,1],8,1,16476,"CDKN1C",1,0],[231127,"Beckwith-Wiedemann syndrome due to 11p15 microdeletion",7,3,[2],[],8,1,16477,"H19",0,0],[231130,"Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion",7,3,[],[0,1],8,0,16478,"",0,0],[231137,"Silver-Russell syndrome due to 7p11.2p13 microduplication",7,3,[1,2],[0,1],8,0,16479,"",0,0],[231140,"Silver-Russell syndrome due to an imprinting defect of 11p15",7,3,[2,4],[4,0],8,2,16480,"H19 IGF2",0,0],[231144,"Silver-Russell syndrome due to 11p15 microduplication",7,3,[1,2],[4,0],8,2,16481,"H19 IGF2",0,0],[231147,"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11",7,3,[2,4],[0,1],8,0,16482,"",0,0],[231154,"Atypical/leaky severe combined immunodeficiency due to partial RAG defect",0,16,[0],[0,1],5,1,12359,"RAG1",0,0],[231160,"Familial cerebral saccular aneurysm",0,1,[1,0],[3],6,5,16483,"COL3A1 ENG TGFBR3 ANGPTL6 THSD1",0,0],[231169,"Usher syndrome type 1",2,3,[0],[0,1],3,9,10168,"CDH23 USH1C USH1G MYO7A PCDH15 USH1E ESPN USH1H USH1K",3,0],[231178,"Usher syndrome type 2",2,3,[0],[0,1],3,5,16484,"USH2A ADGRV1 MYO7A WHRN PDZD7",2,0],[231183,"Usher syndrome type 3",2,3,[0],[2,5],4,5,16485,"CLRN1 MT-TS2 HARS1 CEP78 ARSG",1,0],[231205,"Common variable immunodeficiency without known genetic defect",0,16,[],[],8,0,0,"",0,0],[231214,"Beta-thalassemia major",0,4,[0],[0,1],4,1,16486,"HBB",0,0],[231222,"Beta-thalassemia intermedia",0,4,[0],[2],8,1,16487,"HBB",0,0],[231226,"Unstable beta globin chain variant disease",0,4,[1],[2],8,1,11381,"HBB",1,0],[231230,"Beta-thalassemia associated with another hemoglobin anomaly",4,4,[1,0],[3],8,0,16488,"",0,0],[231237,"Delta-beta-thalassemia",0,4,[0],[0,1],8,3,16489,"HBB HBG1 HBD",1,0],[231242,"Hemoglobin C-beta-thalassemia syndrome",0,4,[0],[1,2,5,6],8,1,16490,"HBB",0,0],[231249,"Hemoglobin E-beta-thalassemia syndrome",0,4,[0],[1,2,5,6],8,0,16491,"",0,0],[231386,"Syndromic beta-thalassemia",4,4,[],[],8,0,16492,"",0,0],[231393,"Beta-thalassemia-X-linked thrombocytopenia syndrome",0,4,[5],[8],8,1,10745,"GATA1",1,0],[231401,"Alpha-thalassemia-myelodysplastic syndrome",0,4,[2],[6],5,1,10328,"ATRX",0,0],[231413,"Variant of Guillain-Barré syndrome",4,1,[3,2],[3],8,0,16493,"",0,0],[231416,"Regional variant of Guillain-Barré syndrome",3,1,[3,2],[3],8,0,16494,"",0,0],[231419,"Functional variant of Guillain-Barré syndrome",3,1,[3,2],[3],8,0,16495,"",0,0],[231426,"Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome",0,1,[3,2],[3],8,0,16496,"",0,0],[231445,"Paraparetic variant of Guillain-Barré syndrome",0,1,[3,2],[3],6,0,16497,"",0,0],[231450,"Acute pure sensory neuropathy",0,1,[3,2],[3],8,0,16498,"",0,0],[231457,"Acute pandysautonomia",0,1,[3,2],[3],8,0,16499,"",0,0],[231466,"Acute sensory ataxic neuropathy",0,1,[3,2],[3],8,0,16500,"",0,0],[231500,"Hermansky-Pudlak syndrome due to BLOC-3 deficiency",2,16,[0],[0,1],8,2,16501,"HPS1 HPS4",0,0],[231512,"Hermansky-Pudlak syndrome due to BLOC-2 deficiency",2,16,[0],[0,1],8,3,16502,"HPS3 HPS5 HPS6",0,0],[231531,"Hermansky-Pudlak syndrome due to BLOC-1 deficiency",2,16,[0],[],5,4,13559,"BLOC1S3 DTNBP1 BLOC1S6 BLOC1S5",1,0],[231556,"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome",0,5,[4],[2],5,0,9177,"",0,0],[231568,"Autosomal dominant generalized dystrophic epidermolysis bullosa",0,5,[1],[0,1],8,1,7549,"COL7A1",1,0],[231573,"Congenital erosive and vesicular dermatosis",0,5,[2],[0,1],5,0,16503,"",0,0],[231580,"Primary unilateral adrenal hyperplasia",0,15,[2],[3],8,0,16504,"",0,0],[231625,"Adrenocortical carcinoma with pure aldosterone hypersecretion",0,15,[2],[3],8,0,16505,"",0,0],[231632,"Ectopic aldosterone-producing tumor",0,15,[2],[3],8,0,16506,"",0,0],[231637,"Rare surgically correctable form of primary aldosteronism",4,15,[2],[3],8,0,16507,"",0,0],[231641,"Rare non surgically correctable form of primary aldosteronism",4,15,[1,2],[],8,0,16508,"",0,0],[231662,"Isolated growth hormone deficiency type IA",2,15,[0],[0,1],8,2,9876,"GH1 RNPC3",1,0],[231671,"Isolated growth hormone deficiency type IB",2,15,[0],[0,1],8,1,13006,"GH1",1,0],[231679,"Isolated growth hormone deficiency type II",2,15,[1],[0,1],8,2,8250,"POU1F1 GH1",1,0],[231692,"Isolated growth hormone deficiency type III",2,15,[5],[0,1],8,0,10615,"",1,0],[231720,"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome",1,15,[0],[0,1],5,1,9091,"LHX3",1,0],[231736,"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome",1,10,[4],[0,1],5,0,16509,"",0,0],[231742,"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome",1,3,[1],[0,1],5,0,16510,"",0,0],[232035,"Infectious embryofetopathy",4,3,[],[],8,0,16511,"",0,0],[232288,"Syndrome with alpha-thalassemia as a major feature",4,4,[],[],8,0,16513,"",0,0],[233655,"Rare genetic vascular disease",4,23,[],[],8,0,16517,"",0,0],[235832,"Congenital vascular bone syndrome",3,0,[],[],8,0,16524,"",0,0],[235936,"Familial hyperaldosteronism",3,15,[1],[3],8,0,16525,"",0,0],[238269,"AApoAII amyloidosis",2,13,[1],[],8,1,16533,"APOA2",0,0],[238305,"Infundibulo-neurohypophysitis",0,15,[],[],8,0,16534,"",0,0],[238329,"Severe X-linked mitochondrial encephalomyopathy",0,1,[5],[0,1],5,1,10437,"AIFM1",1,0],[238446,"15q11q13 microduplication syndrome",1,3,[2,4],[0,1],5,1,12081,"UBE3A",0,0],[238455,"Infantile dystonia-parkinsonism",0,1,[0],[0,1],5,2,13150,"SLC6A3 WARS2",0,0],[238459,"SLC35A1-CDG",0,2,[11],[0,1],5,1,11342,"SLC35A1",1,0],[238468,"Hypohidrotic ectodermal dysplasia",0,3,[1,0,5],[0,1],3,0,16535,"",2,0],[238475,"Familial hypercholanemia",0,2,[0],[0,1],5,5,31446,"SLC10A5 EPHX1 TJP2 BAAT SLC10A1",1,0],[238505,"Combined immunodeficiency due to CD27 deficiency",0,16,[0],[1,2,5,6],5,1,14054,"CD27",1,0],[238517,"Hypotonia-cystinuria type 1 syndrome",3,2,[0],[0,1],8,0,11669,"",1,0],[238523,"Atypical hypotonia-cystinuria syndrome",0,2,[0],[0,1],5,3,16539,"SLC3A1 PREPL CAMKMT",0,0],[238536,"Congenital secondary erythrocytosis",4,4,[1,0],[0,1],8,0,16540,"",0,0],[238557,"Chuvash erythrocytosis",0,4,[0],[0,1],8,1,9892,"VHL",1,0],[238569,"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome",0,12,[0],[0,1],5,3,16542,"IL10 IL10RA IL10RB",1,0],[238578,"Familial clubfoot due to 17q23.1q23.2 microduplication",7,3,[1,2],[0,1],5,1,13329,"TBX4",0,0],[238583,"Hyperphenylalaninemia due to tetrahydrobiopterin deficiency",0,2,[0],[0,1],4,0,16543,"",0,0],[238593,"IgG4-related mesenteritis",2,24,[2],[6],8,0,16544,"",0,0],[238606,"Primary orthostatic tremor",0,1,[2],[6],5,0,16546,"",0,0],[238621,"Ileal pouch anal anastomosis related faecal incontinence",5,12,[2],[3],3,0,0,"",0,0],[238624,"Idiopathic intracranial hypertension",0,1,[2],[6,7],2,0,9468,"",0,0],[238637,"Megacystis-megaureter syndrome",0,26,[],[0,1],8,0,16548,"",0,0],[238642,"Primary megaureter, adult-onset form",2,26,[4],[6],8,0,16549,"",0,0],[238646,"Congenital primary megaureter, obstructed form",2,26,[4],[0,1],8,0,16550,"",0,0],[238650,"Congenital primary megaureter, refluxing form",2,26,[4],[0,1],8,0,16551,"",0,0],[238654,"Congenital primary megaureter, nonrefluxing and unobstructed form",2,26,[4],[0,1],8,0,16552,"",0,0],[238666,"Isolated congenital hypogonadotropic hypogonadism",0,15,[1,0,10,4,5],[0,1,5],3,0,16553,"",0,0],[238670,"Isolated thyrotropin-releasing hormone deficiency",0,15,[4],[3],8,1,10140,"TRH",0,0],[238688,"Neonatal iodine exposure",0,15,[2],[0,1],8,0,16554,"",0,0],[238696,"Transient congenital hypothyroidism due to maternal factor",4,15,[],[],8,0,16555,"",0,0],[238699,"Transient congenital hypothyroidism due to neonatal factor",4,15,[],[],8,0,16556,"",0,0],[238722,"Familial congenital mirror movements",0,1,[1,0],[1,2],5,4,16558,"RAD51 DCC NTN1 DNAL4",0,0],[238744,"Mammary-digital-nail syndrome",1,3,[1],[0,1],5,0,13368,"",0,0],[238750,"4q21 microdeletion syndrome",1,3,[2,4],[0,1],5,0,13292,"",0,0],[238763,"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea",1,10,[0],[0,1],5,1,16559,"LTBP2",0,0],[238769,"1q44 microdeletion syndrome",1,3,[2,4],[0,1],5,1,16561,"HNRNPU",0,0],[240071,"Classic progressive supranuclear palsy syndrome",2,1,[2],[6],8,1,10997,"MAPT",1,0],[240085,"Progressive supranuclear palsy-predominant parkinsonism syndrome",2,1,[2],[6],6,1,9839,"MAPT",1,0],[240094,"Progressive supranuclear palsy-pure akinesia with gait freezing syndrome",2,1,[2],[6],3,1,16562,"MAPT",0,0],[240103,"Progressive supranuclear palsy-corticobasal syndrome",2,1,[2],[6],4,1,16563,"MAPT",0,0],[240112,"Progressive supranuclear palsy-progressive non-fluent aphasia syndrome",2,1,[2],[6],5,1,16564,"MAPT",0,0],[240371,"Syndromic obesity",4,15,[],[],8,0,16565,"",0,0],[240760,"Nijmegen breakage syndrome-like disorder",1,3,[0],[0],5,2,13118,"MRE11 RAD50",1,0],[243343,"Dimethylglycine dehydrogenase deficiency",0,2,[0],[2],5,1,11610,"DMGDH",0,0],[243367,"Acute fatty liver of pregnancy",0,17,[3],[6],8,1,16573,"HADHA",0,0],[244242,"HELLP syndrome",0,4,[3],[6],6,4,8585,"CD46 CFH CFI HELLPAR",0,0],[244275,"De novo thrombotic microangiopathy after kidney transplantation",5,13,[],[3],8,2,0,"CFH CFI",0,0],[244283,"Biliary atresia with splenic malformation syndrome",1,3,[3],[0,1],8,1,16577,"CFC1",0,0],[244305,"Dominant hypophosphatemia with nephrolithiasis or osteoporosis",0,13,[1],[6],5,2,16579,"SLC34A1 NHERF1",0,0],[244310,"RFT1-CDG",0,2,[0],[0,1],5,1,12783,"RFT1",1,0],[247165,"Infantile mercury poisoning",0,27,[2],[1],8,0,16588,"",0,0],[247198,"Progressive cerebello-cerebral atrophy",0,1,[0],[0,1],5,2,16589,"SEPSECS VPS53",0,0],[247203,"Collecting duct carcinoma",0,11,[2],[6],5,0,5220,"",0,0],[247234,"Sporadic adult-onset ataxia of unknown etiology",0,1,[2],[6,7],3,0,16591,"",0,0],[247239,"Non-hereditary degenerative ataxia",4,1,[2],[6],8,0,16592,"",0,0],[247242,"Acquired ataxia",4,1,[],[],8,0,16593,"",0,0],[247245,"Superficial siderosis",0,1,[2],[3],6,0,16594,"",0,0],[247257,"Inhalational anthrax",0,8,[2],[3],5,0,16595,"",0,0],[247262,"Hyperphosphatasia-intellectual disability syndrome",0,3,[0],[0,1],5,7,16596,"PIGV PIGL PIGO PGAP2 PGAP3 PIGW PIGY",0,0],[247353,"Generalized pustular psoriasis",0,5,[0,2],[6],4,2,100491,"IL36RN AP1S3",0,0],[247378,"Autosomal recessive secondary erythrocytosis not associated with VHL gene",0,4,[0],[0,1],8,1,16598,"BPGM",1,0],[247511,"Autosomal dominant secondary erythrocytosis",0,4,[1],[0,1],8,6,16599,"HBA2 HBB HBA1 EGLN1 EPAS1 EPO",0,0],[247522,"Primary ciliary dyskinesia-retinitis pigmentosa syndrome",0,9,[5],[2],5,1,10330,"RPGR",1,0],[247525,"Citrullinemia type I",0,2,[0],[3],3,0,8988,"",1,0],[247546,"Acute neonatal citrullinemia type I",2,2,[0],[0,1],8,1,16600,"ASS1",0,0],[247573,"Late-onset citrullinemia type I",2,2,[0],[6],8,1,16601,"ASS1",0,0],[247582,"Citrin deficiency",4,2,[0],[3],8,0,16602,"",1,0],[247585,"Citrullinemia type II",0,2,[0],[6],8,1,16603,"SLC25A13",0,0],[247598,"Neonatal intrahepatic cholestasis due to citrin deficiency",0,2,[0],[0,1],8,1,11601,"SLC25A13",1,0],[247604,"Juvenile primary lateral sclerosis",0,1,[0],[2],7,2,11663,"ALS2 ERLIN2",1,0],[247623,"Perinatal lethal hypophosphatasia",2,0,[0],[4,0],8,1,16605,"ALPL",0,0],[247638,"Prenatal benign hypophosphatasia",2,0,[1,0],[4,0],8,1,700424,"ALPL",0,0],[247651,"Infantile hypophosphatasia",2,0,[0],[0,1],8,1,1010169,"ALPL",0,0],[247667,"Childhood-onset hypophosphatasia",2,0,[1,0],[1,2],8,1,1010168,"ALPL",0,0],[247676,"Adult hypophosphatasia",2,0,[1,0],[6],8,1,1010154,"ALPL",0,0],[247685,"Odontohypophosphatasia",2,0,[1,0],[1,2,5,6],8,1,16607,"ALPL",0,0],[247691,"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations",0,1,[1],[6,7],8,1,8641,"TREX1",1,0],[247698,"Multiple endocrine neoplasia type 2A",2,11,[1],[2],8,1,8234,"RET",1,0],[247709,"Multiple endocrine neoplasia type 2B",2,11,[1],[2],6,1,8082,"RET",1,0],[247718,"Inflammatory myopathy with abundant macrophages",0,1,[2],[],8,0,16609,"",0,0],[247724,"Idiopathic eosinophilic myositis",0,1,[2],[],8,0,16610,"",0,0],[247762,"Lipoblastoma",0,11,[2],[2],8,0,16611,"",0,0],[247765,"X-linked cerebellar ataxia",4,1,[7,5],[],8,0,16612,"",0,0],[247768,"Müllerian aplasia and hyperandrogenism",1,3,[1,2],[0,1],8,1,8019,"WNT4",1,0],[247775,"Mayer-Rokitansky-Küster-Hauser syndrome type 1",2,3,[1,2],[4,5],8,0,10173,"",0,0],[247790,"FTH1-related iron overload",0,2,[1],[8],5,1,14225,"FTH1",1,0],[247794,"Juvenile cataract-microcornea-renal glucosuria syndrome",0,2,[1],[2],5,1,12786,"SLC16A12",1,0],[247798,"MUTYH-related polyposis",0,12,[1,0],[6],8,1,12041,"MUTYH",1,0],[247815,"Autosomal recessive ataxia due to PEX10 deficiency",0,1,[0],[2,5],5,1,16614,"PEX10",0,0],[247820,"Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome",1,3,[0],[0,1],5,1,13311,"NECTIN4",0,0],[247827,"Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome",1,3,[0],[0,1],5,0,13313,"",0,0],[247834,"Occult macular dystrophy",0,10,[1],[3],8,1,13316,"RP1L1",1,0],[247868,"NLRP12-associated hereditary periodic fever syndrome",0,14,[1],[0,1],5,1,12724,"NLRP12",1,0],[248095,"Primary hypertrophic osteoarthropathy",3,0,[0],[0,1],8,0,16620,"",1,0],[248111,"Juvenile Huntington disease",0,1,[1],[2,5],4,1,16621,"HTT",0,0],[248293,"Rare deficiency anemia",4,4,[],[],8,0,16623,"",0,0],[248296,"Constitutional deficiency anemia",4,4,[],[],8,0,16624,"",0,0],[248302,"Rare acquired deficiency anemia",4,4,[],[],8,0,16625,"",0,0],[248308,"Rare hemorrhagic disorder",4,4,[],[],8,0,16627,"",0,0],[248315,"Rare hemorrhagic disorder due to a coagulation factors defect",4,4,[],[],8,0,16628,"",0,0],[248326,"Rare hemorrhagic disorder due to a platelet anomaly",4,4,[],[],8,0,16629,"",0,0],[248340,"Isolated delta-storage pool disease",0,4,[1,0],[1,2,5],8,1,16630,"FLI1",0,0],[248347,"Rare hemorrhagic disorder due to an acquired platelet anomaly",4,4,[],[],8,0,16631,"",0,0],[248358,"Rare thrombotic disorder due to a coagulation factors defect",4,4,[],[],8,0,16632,"",0,0],[248361,"Rare thrombotic disorder due to a constitutional coagulation factors defect",4,4,[],[],8,0,16633,"",0,0],[248365,"Rare thrombotic disorder due to an acquired coagulation factors defect",4,4,[],[],8,0,16634,"",0,0],[248368,"Rare thrombotic disorder due to a platelet anomaly",4,4,[],[],8,0,16635,"",0,0],[248401,"Rare thrombotic disorder due to a constitutional platelet anomaly",4,4,[],[],8,0,16636,"",0,0],[248404,"Rare thrombotic disorder due to an acquired platelet anomaly",4,4,[],[],8,0,16637,"",0,0],[248408,"Familial hypodysfibrinogenemia",2,4,[1],[],8,3,16638,"FGA FGB FGG",0,0],[250165,"Genetic polycythemia",4,4,[],[],8,0,27929,"",0,0],[250805,"Serpinopathy",4,21,[],[],8,0,27749,"",0,0],[250808,"Serpinopathy with toxic serpin polymerization",4,21,[],[],8,0,27750,"",0,0],[250811,"Serpinopathy with loss of serpin function",4,21,[],[],8,0,27751,"",0,0],[250831,"Logopenic progressive aphasia",0,1,[3,2],[6],8,0,16644,"",0,0],[250908,"Rare neoplastic disease",4,-1,[],[],8,0,16645,"",0,0],[250923,"Isolated aniridia",6,3,[1,2],[0],3,3,7119,"FOXC1 PAX6 TRIM44",0,0],[250932,"Autosomal dominant optic atrophy and peripheral neuropathy",0,10,[1],[2],8,0,16646,"",0,0],[250972,"Polymicrogyria with optic nerve hypoplasia",1,3,[0],[0,1],5,1,13172,"TUBA8",0,0],[250977,"AICA-ribosiduria",0,1,[0],[4,0,1],5,1,12099,"ATIC",1,0],[250984,"Autosomal recessive Stickler syndrome",2,0,[0],[2],5,4,16647,"COL9A1 COL9A2 COL9A3 LOXL3",0,0],[250989,"1q21.1 microdeletion syndrome",1,3,[1,2],[0,1],8,0,12914,"",0,0],[250994,"1q21.1 microduplication syndrome",1,3,[1,2],[0,1],5,0,12915,"",0,0],[250999,"1q41q42 microdeletion syndrome",1,3,[2,4],[0,1],8,0,12927,"",0,0],[251004,"Paternal uniparental disomy of chromosome 1 syndrome",1,3,[2,4],[0,1],8,0,16650,"",0,0],[251009,"Maternal uniparental disomy of chromosome 1 syndrome",1,3,[2,4],[0,1],8,0,16651,"",0,0],[251014,"2q31.1 microdeletion syndrome",1,3,[2,4],[0,1],8,0,16652,"",0,0],[251019,"2q32q33 deletion syndrome",1,3,[2,4],[0,1],5,1,12864,"SATB2",1,0],[251028,"SATB2-associated syndrome due to a chromosomal rearrangement",7,3,[2,4],[0,1],6,1,16653,"SATB2",0,0],[251038,"3q29 microduplication syndrome",1,3,[1,2],[0,1],8,0,12761,"",0,0],[251043,"Ring chromosome 5 syndrome",1,3,[2,4],[0,1],8,0,16654,"",0,0],[251046,"6p22 microdeletion syndrome",1,3,[2,4],[0,1],5,0,16655,"",0,0],[251056,"6q25.2q25.3 microdeletion syndrome",1,3,[2],[0,1],5,1,13025,"ARID1B",1,0],[251061,"7q31 microdeletion syndrome",1,3,[2,4],[0,1],5,1,16656,"FOXP2",0,0],[251066,"8p11.2 deletion syndrome",1,3,[2,4],[0,1],5,1,16657,"ANK1",0,0],[251071,"8p23.1 microdeletion syndrome",1,3,[2,4],[0,1],8,1,16658,"GATA4",0,0],[251076,"8p23.1 duplication syndrome",1,3,[2,4],[4,0,1],3,0,16659,"",0,0],[251262,"Familial osteochondritis dissecans",0,0,[1],[2],8,1,100462,"ACAN",1,0],[251274,"Familial hyperaldosteronism type III",0,15,[1],[1,2,5],5,1,13359,"KCNJ5",1,0],[251279,"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",0,10,[0],[6],5,1,12605,"MFRP",1,0],[251282,"Autosomal dominant spastic ataxia type 1",0,1,[1],[2,5,6],5,1,7164,"VAMP1",1,0],[251290,"Parietal foramina with clavicular hypoplasia",1,0,[1],[0,1],5,1,8198,"MSX2",1,0],[251295,"Pigmented paravenous retinochoroidal atrophy",0,10,[1,2],[3],5,1,8246,"CRB1",0,0],[251304,"Infantile onset panniculitis with uveitis and systemic granulomatosis",0,14,[2],[0,1],5,0,16661,"",0,0],[251307,"Idiopathic recurrent pericarditis",0,14,[2],[3],8,0,16662,"",0,0],[251312,"Overlapping connective tissue disease",3,14,[],[],8,0,16663,"",0,0],[251325,"Drug-induced vasculitis",0,14,[],[],8,0,16664,"",0,0],[251328,"Unclassified vasculitis",0,14,[2],[],8,0,16665,"",0,0],[251332,"Unexplained long-lasting fever/inflammatory syndrome",0,14,[],[3],8,0,16666,"",0,0],[251347,"Ataxia-telangiectasia-like disorder",0,1,[0],[0,1],8,1,24557,"MRE11",1,0],[251359,"Sickle cell-beta-thalassemia disease",0,4,[0],[3],8,0,16668,"",0,0],[251365,"Sickle cell S-C disease",0,4,[0],[3],8,1,16669,"HBB",0,0],[251370,"Sickle cell S-D Punjab disease",2,4,[0],[3],8,1,16670,"HBB",0,0],[251375,"Sickle cell S-E disease",2,4,[0],[3],8,1,16671,"HBB",0,0],[251380,"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome",0,4,[0],[3],2,5,16672,"HBB BCL11A HBG1 HBG2 KLF1",0,0],[251383,"CK syndrome",1,3,[5],[0,1],5,1,10441,"NSDHL",1,0],[251393,"Localized junctional epidermolysis bullosa",0,5,[0],[0,1],5,2,16673,"COL17A1 ITGB4",0,0],[251510,"46,XY partial gonadal dysgenesis",1,3,[1,0,5,9],[0,1],8,11,16674,"SOX9 SRY WT1 WWOX ZFPM2 GATA4 NR0B1 NR5A1 MAP3K1 VAMP7 DHX37",0,0],[251515,"Distal arthrogryposis type 10",1,3,[1],[0,1],5,0,16675,"",0,0],[251523,"Hyperzincemia and hypercalprotectinemia",0,2,[4],[2],5,1,11174,"PSTPIP1",1,0],[251529,"Toxic or drug-related embryofetopathy",4,3,[],[],8,0,16677,"",0,0],[251535,"Maternal disease-related embryofetopathy",4,3,[],[],8,0,16678,"",0,0],[251558,"Rare tumor of neuroepithelial tissue",4,11,[],[],8,0,16679,"",0,0],[251561,"High-grade astrocytoma",3,11,[],[],8,0,16680,"",0,0],[251576,"Gliosarcoma",10,11,[2],[6],5,12,16681,"PPARG TP53 EGFR FGFR1 FGFR3 NFKBIA IDH1 TACC3 TACC1 MGMT LZTR1 SEPTIN14",0,0],[251579,"Giant cell glioblastoma",10,11,[2],[6],5,13,16682,"PPARG TP53 EGFR FGFR1 FGFR3 NFKBIA IDH1 TACC3 TACC1 MGMT LZTR1 SEPTIN14 ROS1",0,0],[251582,"Gliomatosis cerebri",0,11,[2],[6],5,0,16683,"",0,0],[251589,"Astrocytoma grade 3",0,11,[2],[6],4,1,16684,"IDH2",0,0],[251592,"Low-grade astrocytoma",3,11,[],[],8,0,16685,"",0,0],[251595,"Astrocytoma grade 2",0,11,[],[2,5,6],4,0,16686,"",0,0],[251598,"Protoplasmic astrocytoma",10,11,[2],[2],5,1,16687,"IDH2",0,0],[251601,"Fibrillary astrocytoma",10,11,[],[],8,1,16688,"IDH2",0,0],[251604,"Gemistocytic astrocytoma",10,11,[],[],8,1,16689,"IDH2",0,0],[251607,"Pleomorphic xanthoastrocytoma",0,11,[2],[3],5,0,16690,"",0,0],[251612,"Pilocytic astrocytoma",0,11,[2],[3],4,0,16691,"",0,0],[251615,"Pilomyxoid astrocytoma",10,11,[2],[3],8,8,16692,"BRAF BRAF FGFR1 KRAS RAF1 KIAA1549 SRGAP3 NTRK2",0,0],[251618,"Subependymal giant cell astrocytoma",0,11,[],[],8,0,16693,"",0,0],[251623,"Pituicytoma",0,11,[2],[6],5,0,6372,"",0,0],[251627,"Oligodendroglioma grade 2",0,11,[2],[3],4,2,16695,"IDH2 POT1",0,0],[251630,"Oligodendroglioma grade 3",0,11,[2],[6],5,2,16696,"IDH2 POT1",0,0],[251636,"Ependymoma",0,11,[2],[3],4,1,16698,"ZFTA",0,0],[251639,"Subependymoma",0,11,[],[6],5,0,7667,"",0,0],[251643,"Myxopapillary ependymoma",0,11,[2],[2,5,3],5,0,16699,"",0,0],[251646,"Anaplastic ependymoma",0,11,[2],[2,5,6],5,0,16700,"",0,0],[251651,"Oligoastrocytic tumor",3,11,[],[],4,0,16701,"",0,0],[251656,"Oligoastrocytoma, dual genotype",0,11,[],[],8,1,16702,"IDH2",0,0],[251663,"Anaplastic oligoastrocytoma, dual genotype",0,11,[2],[6],8,1,16703,"IDH2",0,0],[251668,"Glial tumor of neuroepithelial tissue with unknown origin",3,11,[],[],8,0,16704,"",0,0],[251671,"Angiocentric glioma",0,11,[],[3],5,2,16705,"MYB QKI",0,0],[251674,"Chordoid glioma",0,11,[],[6],5,0,16706,"",0,0],[251679,"Astroblastoma",0,11,[2],[1,2,5,6],5,1,16707,"MN1",0,0],[251852,"Embryonal tumor of neuroepithelial tissue",4,11,[],[],4,0,16708,"",0,0],[251855,"Anaplastic/large cell medulloblastoma",10,11,[],[0,1],8,0,16709,"",0,0],[251858,"Medulloblastoma with extensive nodularity",10,11,[2],[1,2],8,1,16710,"SUFU",0,0],[251863,"Desmoplastic/nodular medulloblastoma",10,11,[2],[6],5,1,16711,"SUFU",0,0],[251867,"Classic medulloblastoma",10,11,[],[2],8,0,16712,"",0,0],[251870,"Central nervous system embryonal tumor",3,11,[2],[2],5,0,16713,"",0,0],[251877,"Ganglioneuroblastoma",0,11,[2],[1,2],5,1,5035,"ALK",0,0],[251896,"Choroid plexus tumor",3,11,[],[],5,0,16717,"",0,0],[251899,"Choroid plexus carcinoma",0,11,[1],[2],4,1,16718,"TP53",0,0],[251902,"Atypical papilloma of choroid plexus",0,11,[],[],8,0,2684,"",0,0],[251905,"Pineal tumor of neuroepithelial tissue",3,11,[],[],8,0,16721,"",0,0],[251909,"Pineoblastoma",0,11,[2],[1,2,5,6],5,0,16722,"",0,0],[251912,"Pineocytoma",0,11,[],[6,7],8,0,16723,"",0,0],[251915,"Papillary tumor of the pineal region",0,11,[2],[3],8,0,16724,"",0,0],[251919,"Pineal parenchymal tumor of intermediate differentiation",0,11,[],[],8,0,6369,"",0,0],[251924,"Neuronal tumor",3,11,[],[],8,0,16726,"",0,0],[251927,"Extraventricular neurocytoma",0,11,[],[],8,0,16727,"",0,0],[251931,"Cerebellar liponeurocytoma",0,11,[2],[6],8,0,6131,"",0,0],[251934,"Mixed neuronal-glial tumor",3,11,[],[],8,0,16729,"",0,0],[251937,"Gangliocytoma",0,11,[],[1,2,5],5,0,16730,"",0,0],[251940,"Desmoplastic infantile astrocytoma/ganglioglioma",0,11,[2],[0,1],8,0,16731,"",0,0],[251946,"Dysembryoplastic neuroepithelial tumor",0,11,[2],[3],8,0,5505,"",0,0],[251949,"Ganglioglioma",0,11,[],[],8,0,16733,"",0,0],[251957,"Anaplastic ganglioglioma",0,11,[],[],8,0,16734,"",0,0],[251962,"Papillary glioneuronal tumor",0,11,[],[],8,0,16735,"",0,0],[251975,"Rosette-forming glioneuronal tumor",0,11,[],[],8,0,16736,"",0,0],[251992,"Ganglioneuroma",0,11,[],[1,2,5],8,1,5033,"ALK",0,0],[251995,"Primary germ cell tumor of central nervous system",4,11,[],[],8,0,16738,"",0,0],[252006,"Yolk sac tumor of central nervous system",2,11,[],[],8,0,16739,"",0,0],[252015,"Choriocarcinoma of the central nervous system",0,11,[],[],8,0,16740,"",0,0],[252018,"Teratoma of the central nervous system",2,11,[],[],8,0,2718,"",0,0],[252021,"Mixed germ cell tumor of central nervous system",2,11,[],[],8,0,16742,"",0,0],[252025,"Tumor of meninges",4,11,[],[],8,0,16743,"",0,0],[252028,"Primary melanocytic tumor of central nervous system",4,11,[],[],5,0,16744,"",0,0],[252031,"Diffuse leptomeningeal melanocytosis",0,11,[],[],8,0,16745,"",0,0],[252046,"Meningeal melanocytoma",0,11,[],[],8,0,16746,"",0,0],[252050,"Primary melanoma of the central nervous system",0,11,[],[6],5,0,16747,"",0,0],[252054,"Hemangioblastoma",0,11,[],[6],4,0,16748,"",0,0],[252057,"Tumor of cranial and spinal nerves",4,11,[],[],3,0,16749,"",0,0],[252128,"Malignant peripheral nerve sheath tumor with perineurial differentiation",10,11,[],[],8,2,16751,"HTRA1 SH3PXD2A",0,0],[252131,"Benign peripheral nerve sheath tumor",4,11,[],[],8,0,16752,"",0,0],[252164,"Benign schwannoma",0,11,[2],[6,7],3,0,2546,"",0,0],[252175,"Vestibular schwannoma",2,11,[],[],3,0,1569,"",0,0],[252183,"Neurofibroma",0,11,[],[6],8,0,16755,"",0,0],[252190,"Inherited nervous system cancer-predisposing syndrome",4,1,[],[],8,0,16756,"",0,0],[252202,"Constitutional mismatch repair deficiency syndrome",0,1,[0],[2],5,4,31219,"PMS2 MLH1 MSH2 MSH6",0,0],[252206,"Melanoma and neural system tumor syndrome",0,1,[1,4],[6,7],5,1,7967,"CDKN2A",0,0],[252212,"Malignant triton tumor",10,11,[],[3],6,2,16757,"HTRA1 SH3PXD2A",0,0],[254334,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type B",0,1,[0],[0,1],5,1,13338,"KARS1",1,0],[254343,"Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome",0,1,[0],[2],5,1,13354,"MTPAP",1,0],[254346,"19p13.12 microdeletion syndrome",1,3,[2,4],[0,1],5,0,16765,"",0,0],[254351,"Distal 7q11.23 microdeletion syndrome",1,3,[1,2],[0,1],5,0,13393,"",0,0],[254361,"Plectin-related limb-girdle muscular dystrophy R17",0,1,[0],[2],5,1,13390,"PLEC",1,0],[254367,"Rare lichen planus",4,5,[],[3],8,0,16766,"",0,0],[254370,"Rare cutaneous lichen planus",4,5,[],[],8,0,16767,"",0,0],[254373,"Rare mucosal lichen planus",4,5,[],[],8,0,16768,"",0,0],[254379,"Linear lichen planus",0,5,[],[3],8,0,16769,"",0,0],[254395,"Actinic lichen planus",0,5,[],[3],8,0,16770,"",0,0],[254411,"Annular atrophic lichen planus",0,5,[],[6],5,0,16771,"",0,0],[254424,"Annular lichen planus",0,5,[],[3],8,0,16772,"",0,0],[254449,"Atrophic lichen planus",0,5,[],[3],8,0,16773,"",0,0],[254463,"Lichen planus pigmentosus",0,5,[],[6],8,0,16774,"",0,0],[254478,"Lichen planus pemphigoides",0,5,[],[3],5,0,16775,"",0,0],[254492,"Frontal fibrosing alopecia",0,5,[],[6],8,0,16776,"",0,0],[254504,"Inhalational botulism",2,8,[],[6],5,0,16777,"",0,0],[254509,"Iatrogenic botulism",2,8,[],[3],5,0,16778,"",0,0],[254516,"Temple syndrome",1,3,[1,2],[4,0,1],5,0,14541,"",0,0],[254519,"Kagami-Ogata syndrome",1,3,[1,2],[4,0,1],5,0,16779,"",0,0],[254525,"Temple syndrome due to paternal 14q32.2 microdeletion",7,3,[1,2],[0,1],5,3,16780,"MEG3 RTL1 DLK1",0,0],[254528,"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion",7,3,[1,2],[0,1],5,3,16781,"MEG3 RTL1 DLK1",0,0],[254531,"Temple syndrome due to paternal 14q32.2 hypomethylation",7,3,[1,2],[0,1],5,3,16782,"MEG3 RTL1 DLK1",0,0],[254534,"Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation",7,3,[1,2],[0,1],5,3,16783,"MEG3 RTL1 DLK1",0,0],[254685,"Gestational trophoblastic disease",4,11,[],[],8,0,16784,"",0,0],[254688,"Complete hydatidiform mole",2,11,[0,2],[6],8,4,16785,"NLRP7 KHDC3L MEI1 TOP6BL",0,0],[254693,"Partial hydatidiform mole",2,11,[2],[6],8,2,16786,"NLRP7 KHDC3L",0,0],[254698,"Epithelioid trophoblastic tumor",0,11,[2],[6],6,0,16787,"",0,0],[254704,"Genetic hyperferritinemia without iron overload",8,21,[1,0],[8],8,1,16788,"FTL",0,0],[254746,"Pyruvate metabolism disorder",4,2,[],[],8,0,16789,"",0,0],[254749,"Tricarboxylic acid cycle disorder",4,2,[],[],8,0,16790,"",0,0],[254758,"Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies",4,2,[],[],8,0,16791,"",0,0],[254767,"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA",4,2,[],[],8,0,16792,"",0,0],[254776,"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA",4,2,[],[],8,0,16793,"",0,0],[254788,"Mitochondrial DNA-related mitochondrial myopathy",3,2,[6],[],8,0,16794,"",0,0],[254803,"Mitochondrial DNA depletion syndrome, encephalomyopathic form",3,2,[0],[0,1],8,0,16796,"",0,0],[254807,"Multiple mitochondrial DNA deletion syndrome",4,2,[],[],8,0,16797,"",0,0],[254818,"Ataxia neuropathy spectrum",3,1,[],[],8,0,16798,"",0,0],[254822,"Mitochondrial oxidative phosphorylation disorder with no known mechanism",4,2,[],[],8,0,16799,"",0,0],[254827,"Mitochondrial membrane transport disorder",4,2,[],[],8,0,16800,"",0,0],[254830,"Mitochondrial substrate carrier disorder",4,2,[],[],8,0,16801,"",0,0],[254834,"Mitochondrial protein import disorder",4,2,[],[],8,0,16802,"",0,0],[254837,"Unspecified mitochondrial disorder",3,2,[0,5],[],8,0,16803,"",0,0],[254843,"Exercise intolerance with lactic acidosis",3,2,[],[],8,0,16804,"",0,0],[254846,"Isolated oxidative phosphorylation complex disorder",4,2,[],[],8,0,66,"",0,0],[254851,"Mitochondrial DNA-related dystonia",0,2,[6],[2],6,0,16806,"",0,0],[254854,"Pure mitochondrial myopathy",0,2,[6],[2,5],8,0,16807,"",0,0],[254857,"Lethal infantile mitochondrial myopathy",0,2,[6],[0,1],8,1,10792,"MT-TT",0,0],[254864,"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency",0,2,[6],[0,1],8,2,10780,"TRMU MT-TE",0,0],[254871,"Mitochondrial DNA depletion syndrome, hepatocerebral form",3,2,[0],[0,1],8,0,100512,"",0,0],[254875,"TK2-related mitochondrial DNA maintenance defect, myopathic form",0,2,[0],[0,1],5,0,12301,"",1,0],[254881,"Spinocerebellar ataxia with epilepsy",0,2,[0],[2,5],8,1,16809,"POLG",0,0],[254886,"Autosomal recessive progressive external ophthalmoplegia",0,2,[0],[3],8,4,16810,"POLG TK2 TOP3A RRM1",0,0],[254892,"Autosomal dominant progressive external ophthalmoplegia",0,2,[1],[5,6],8,5,8003,"POLG POLG2 SLC25A4 TWNK RRM2B",0,0],[254898,"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome",0,2,[0],[0,1],5,1,13837,"PDSS1",1,0],[254902,"Renal tubulopathy-encephalopathy-liver failure syndrome",0,2,[0],[0,1],8,1,16811,"BCS1L",0,0],[254905,"Isolated cytochrome C oxidase deficiency",0,2,[0,6],[],8,14,9068,"COX10 MT-CO1 MT-CO2 MT-CO3 COX6B1 COX14 COX20 COA3 COX8A COX5A PET117 COX4I1 COX16 COX6A2",2,0],[254913,"Isolated ATP synthase deficiency",0,2,[0],[0],8,8,14471,"ATP5PO ATPAF2 MT-ATP6 MT-ATP8 ATP5F1E ATP5F1A ATP5F1D ATP5MK",0,0],[254920,"Combined oxidative phosphorylation defect type 2",0,2,[0],[0],5,1,12510,"MRPS16",1,0],[254925,"Combined oxidative phosphorylation defect type 4",0,2,[0],[0],5,1,12534,"TUFM",1,0],[254930,"Combined oxidative phosphorylation defect type 7",0,2,[0],[1,2],5,1,13306,"MTRFR",1,0],[255132,"Adult-onset autosomal recessive sideroblastic anemia",0,4,[0],[6],5,1,14804,"GLRX5",1,0],[255138,"Pyruvate dehydrogenase E1-beta deficiency",2,2,[0],[2],8,1,13580,"PDHB",1,0],[255182,"Pyruvate dehydrogenase E3-binding protein deficiency",2,2,[0],[0,1],8,1,9503,"PDHX",1,0],[255210,"Mitochondrial DNA-associated Leigh syndrome",0,2,[6],[1,2],6,11,16814,"MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TL1 MT-TK MT-TW MT-TV",0,0],[255229,"Navajo neurohepatopathy",0,2,[0],[1,2],5,1,9747,"MPV17",1,0],[255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",0,2,[0],[0,1],5,1,12792,"RRM2B",1,0],[260305,"Autosomal recessive sideroblastic anemia",0,4,[0],[0,1],8,2,16828,"SLC25A38 HSPA9",0,0],[261102,"Distal 7q11.23 microduplication syndrome",1,3,[],[0,1],5,0,16832,"",0,0],[261112,"Monosomy 9p syndrome",1,3,[],[4,0],8,0,8013,"",0,0],[261120,"14q11.2 microdeletion syndrome",1,3,[2,4],[0,1],5,0,13272,"",0,0],[261144,"FOXG1 syndrome due to 14q12 microdeletion",2,1,[2],[0,1],5,1,16833,"FOXG1",0,0],[261183,"15q11.2 microdeletion syndrome",1,3,[2],[0,1],5,3,14294,"NIPA1 NIPA2 TUBG1",0,0],[261190,"Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion",2,3,[2,4],[0,1],5,1,14822,"MEIS2",0,0],[261197,"Proximal 16p11.2 microdeletion syndrome",1,3,[1,2],[2],2,1,12756,"SH2B1",0,0],[261204,"16p11.2p12.2 microduplication syndrome",1,3,[],[4,0,1],5,0,16834,"",0,0],[261211,"16p11.2p12.2 microdeletion syndrome",1,3,[2,4],[0,1],5,0,13320,"",0,0],[261222,"Distal 16p11.2 microdeletion syndrome",1,3,[2],[4,0,1],8,1,13267,"SH2B1",0,0],[261229,"14q11.2 microduplication syndrome",1,3,[],[0,1],5,2,16835,"CHD8 SUPT16H",0,0],[261236,"16p13.11 microdeletion syndrome",1,3,[1,2],[0,1],5,0,16836,"",0,0],[261243,"16p13.11 microduplication syndrome",1,3,[2,4],[0,1],5,0,16837,"",0,0],[261250,"16q24.3 microdeletion syndrome",1,3,[2,4],[0,1],5,1,16838,"ANKRD11",0,0],[261257,"Distal 17p13.3 microdeletion syndrome",1,3,[2],[4,0,1],5,1,16839,"YWHAE",0,0],[261265,"17q12 microdeletion syndrome",1,3,[2],[4,0,1],5,2,13797,"HNF1B LHX1",0,0],[261272,"17q12 microduplication syndrome",1,3,[],[4,0,1],5,0,13796,"",0,0],[261279,"17q23.1q23.2 microdeletion syndrome",1,3,[2,4],[0,1],5,1,13238,"TBX4",0,0],[261290,"Trisomy 17p syndrome",1,3,[2,4],[0,1],8,0,16840,"",0,0],[261295,"20p12.3 microdeletion syndrome",1,3,[2,4],[0,1],5,1,16841,"BMP2",0,0],[261304,"Paternal 20q13.2q13.3 microdeletion syndrome",1,3,[2],[4,0],5,0,16842,"",0,0],[261311,"20q13.33 microdeletion syndrome",1,3,[2],[0],8,0,16843,"",0,0],[261318,"Trisomy 20p syndrome",1,3,[2,4],[0,1],8,0,16844,"",0,0],[261323,"21q22.11q22.12 microdeletion syndrome",1,3,[2],[0,1],5,1,16845,"KIF15",0,0],[261330,"Distal 22q11.2 microdeletion syndrome",1,3,[1],[4,0],8,3,12740,"BCR MAPK1 CRKL",0,0],[261337,"Distal 22q11.2 microduplication syndrome",1,3,[1],[4,0,1,2],8,0,16846,"",0,0],[261344,"Trisomy 1q syndrome",1,3,[],[4,0],5,0,16847,"",0,0],[261349,"2p15p16.1 microdeletion syndrome",1,3,[2],[4,0,1],5,3,12916,"BCL11A XPO1 REL",0,0],[261476,"Xp21 deletion syndrome",0,3,[],[0,1],5,0,10399,"",0,0],[261483,"Xq27.3q28 duplication syndrome",1,3,[5],[0,1],5,1,10467,"FMR1",0,0],[261494,"Kleefstra syndrome",1,3,[1],[0],5,0,12455,"",1,0],[261501,"Atypical Norrie disease due to Xp11.3 microdeletion",1,3,[2],[0],8,0,16850,"",0,0],[261519,"Maternal uniparental disomy of chromosome X syndrome",1,3,[],[0],8,0,16851,"",0,0],[261524,"Paternal uniparental disomy of chromosome X syndrome",1,3,[],[0],8,0,16852,"",0,0],[261529,"Ring chromosome Y syndrome",1,3,[],[0],8,0,16853,"",0,0],[261534,"49,XXXYY syndrome",1,3,[],[0],5,0,16854,"",0,0],[261537,"Mowat-Wilson syndrome due to monosomy 2q22",7,3,[],[4,0],8,1,16855,"ZEB2",0,0],[261552,"Mowat-Wilson syndrome due to a ZEB2 point mutation",7,3,[1],[4,0],8,1,16856,"ZEB2",0,0],[261584,"5q22 microdeletion syndrome",0,3,[2],[6],8,1,16860,"APC",0,0],[261600,"Alagille syndrome due to 20p12 microdeletion",7,3,[2],[],8,1,16861,"JAG1",0,0],[261619,"Alagille syndrome due to a JAG1 point mutation",7,3,[1],[],8,1,16862,"JAG1",1,0],[261629,"Alagille syndrome due to a NOTCH2 point mutation",7,3,[1],[],8,1,12439,"NOTCH2",1,0],[261638,"Okihiro syndrome due to 20q13 microdeletion",7,3,[2],[],8,1,16863,"SALL4",0,0],[261647,"Okihiro syndrome due to a point mutation",7,3,[1],[],8,1,16864,"SALL4",0,0],[261652,"Kleefstra syndrome due to a point mutation",7,3,[1],[0],5,2,16865,"EHMT1 KMT2C",0,0],[261766,"Partial deletion of chromosome 1 syndrome",4,3,[],[],8,0,16866,"",0,0],[261771,"Partial deletion of chromosome 2 syndrome",4,3,[],[],8,0,16867,"",0,0],[261776,"Partial deletion of chromosome 3 syndrome",4,3,[],[],8,0,16868,"",0,0],[261781,"Partial deletion of chromosome 4 syndrome",4,3,[],[],8,0,16869,"",0,0],[261786,"Partial deletion of chromosome 5 syndrome",4,3,[],[],8,0,16870,"",0,0],[261791,"Partial deletion of chromosome 6 syndrome",4,3,[],[],8,0,16871,"",0,0],[261796,"Partial deletion of chromosome 7 syndrome",4,3,[],[],8,0,16872,"",0,0],[261801,"Partial deletion of chromosome 8 syndrome",4,3,[],[],8,0,16873,"",0,0],[261806,"Partial deletion of chromosome 9 syndrome",4,3,[],[],8,0,16874,"",0,0],[261811,"Partial deletion of chromosome 10 syndrome",4,3,[],[],8,0,16875,"",0,0],[261816,"Partial deletion of chromosome 11 syndrome",4,3,[],[],8,0,16876,"",0,0],[261821,"Partial deletion of the long arm of chromosome 12 syndrome",4,3,[],[],8,0,16877,"",0,0],[261826,"Partial deletion of chromosome 16 syndrome",4,3,[],[],8,0,16878,"",0,0],[261831,"Partial deletion of chromosome 17 syndrome",4,3,[],[],8,0,16879,"",0,0],[261836,"Partial deletion of chromosome 18 syndrome",4,3,[],[],8,0,16880,"",0,0],[261841,"Partial deletion of chromosome 19 syndrome",4,3,[],[],8,0,16881,"",0,0],[261846,"Partial deletion of chromosome 20 syndrome",4,3,[],[],8,0,16882,"",0,0],[261857,"Partial deletion of the short arm of chromosome 1 syndrome",4,3,[],[],8,0,16883,"",0,0],[261866,"Partial deletion of the short arm of chromosome 2 syndrome",4,3,[],[],8,0,16884,"",0,0],[261875,"Partial deletion of the short arm of chromosome 3 syndrome",4,3,[],[],8,0,16885,"",0,0],[261884,"Partial deletion of the short arm of chromosome 4 syndrome",4,3,[],[],8,0,22762,"",0,0],[261893,"Partial deletion of the short arm of chromosome 5 syndrome",4,3,[],[],8,0,16887,"",0,0],[261902,"Partial deletion of the short arm of chromosome 6 syndrome",4,3,[],[],8,0,16888,"",0,0],[261911,"Partial deletion of the short arm of chromosome 7 syndrome",4,3,[],[4],8,0,16889,"",0,0],[261920,"Partial deletion of the short arm of chromosome 8 syndrome",4,3,[],[],8,0,16890,"",0,0],[261929,"Partial deletion of the short arm of chromosome 9 syndrome",4,3,[],[],8,0,16891,"",0,0],[261938,"Partial deletion of the short arm of chromosome 10 syndrome",4,3,[],[],8,0,16892,"",0,0],[261947,"Partial deletion of the short arm of chromosome 11 syndrome",4,3,[],[],8,0,16893,"",0,0],[261956,"Partial deletion of the short arm of chromosome 16 syndrome",4,3,[],[],8,0,16894,"",0,0],[261965,"Partial deletion of the short arm of chromosome 17 syndrome",4,3,[],[],8,0,22754,"",0,0],[261974,"Partial deletion of the short arm of chromosome 18 syndrome",4,3,[],[],8,0,7800,"",0,0],[261983,"Partial deletion of the short arm of chromosome 19 syndrome",4,3,[],[],8,0,16897,"",0,0],[261992,"Partial deletion of the short arm of chromosome 20 syndrome",4,3,[],[],8,0,16898,"",0,0],[262001,"Partial deletion of the long arm of chromosome 1 syndrome",4,3,[],[],8,0,22756,"",0,0],[262010,"Partial deletion of the long arm of chromosome 2 syndrome",4,3,[],[],8,0,16901,"",0,0],[262019,"Partial deletion of the long arm of chromosome 3 syndrome",4,3,[],[],8,0,16902,"",0,0],[262029,"Partial deletion of the long arm of chromosome 4 syndrome",4,3,[],[],8,0,16903,"",0,0],[262038,"Partial deletion of the long arm of chromosome 5 syndrome",4,3,[],[],8,0,16904,"",0,0],[262047,"Partial deletion of the long arm of chromosome 6 syndrome",4,3,[],[],8,0,16905,"",0,0],[262056,"Partial deletion of the long arm of chromosome 7 syndrome",4,3,[],[],8,0,16906,"",0,0],[262065,"Partial deletion of the long arm of chromosome 8 syndrome",4,3,[],[],8,0,16907,"",0,0],[262074,"Partial deletion of the long arm of chromosome 9 syndrome",4,3,[],[],8,0,16908,"",0,0],[262083,"Partial deletion of the long arm of chromosome 10 syndrome",4,3,[],[],8,0,16909,"",0,0],[262092,"Partial deletion of the long arm of chromosome 11 syndrome",4,3,[],[],8,0,16910,"",0,0],[262101,"Partial deletion of the long arm of chromosome 13 syndrome",4,3,[],[],8,0,16911,"",0,0],[262110,"Partial deletion of the long arm of chromosome 14 syndrome",4,3,[],[],8,0,16912,"",0,0],[262119,"Partial deletion of the long arm of chromosome 15 syndrome",4,3,[],[],8,0,16913,"",0,0],[262128,"Partial deletion of the long arm of chromosome 16 syndrome",4,3,[],[],8,0,16914,"",0,0],[262137,"Partial deletion of the long arm of chromosome 17 syndrome",4,3,[],[],8,0,16915,"",0,0],[262146,"Partial deletion of the long arm of chromosome 18 syndrome",4,3,[],[],8,0,11147,"",0,0],[262155,"Partial deletion of the long arm of chromosome 19 syndrome",4,3,[],[],8,0,16917,"",0,0],[262164,"Partial deletion of the long arm of chromosome 20 syndrome",4,3,[],[],8,0,16918,"",0,0],[262173,"Partial deletion of the long arm of chromosome 21 syndrome",4,3,[],[],8,0,16919,"",0,0],[262182,"Partial deletion of the long arm of chromosome 22 syndrome",4,3,[],[],8,0,22760,"",0,0],[262191,"Partial duplication of chromosome 1 syndrome",4,3,[],[],8,0,16921,"",0,0],[262196,"Partial duplication of chromosome 2 syndrome",4,3,[],[],8,0,16922,"",0,0],[262201,"Partial duplication of chromosome 3 syndrome",4,3,[],[],8,0,16923,"",0,0],[262206,"Partial duplication of chromosome 4 syndrome",4,3,[],[],8,0,16924,"",0,0],[262211,"Partial duplication/triplication of chromosome 5 syndrome",4,3,[],[],8,0,16925,"",0,0],[262628,"Partial duplication of chromosome 6 syndrome",4,3,[],[],8,0,16927,"",0,0],[262633,"Partial duplication of chromosome 7 syndrome",4,3,[],[],8,0,16928,"",0,0],[262638,"Partial duplication of chromosome 8 syndrome",4,3,[],[],8,0,16929,"",0,0],[262643,"Partial duplication/triplication of chromosome 9 syndrome",4,3,[],[],8,0,16930,"",0,0],[262648,"Partial duplication of chromosome 10 syndrome",4,3,[],[],8,0,16931,"",0,0],[262653,"Partial duplication of chromosome 11 syndrome",4,3,[],[],8,0,16932,"",0,0],[262658,"Partial duplication/triplication of the short arm of chromosome 12 syndrome",4,3,[],[],8,0,16933,"",0,0],[262672,"Partial duplication of chromosome 16 syndrome",4,3,[],[],8,0,16934,"",0,0],[262677,"Partial duplication of chromosome 17 syndrome",4,3,[],[],8,0,16935,"",0,0],[262682,"Partial duplication/triplication of chromosome 18 syndrome",4,3,[],[],8,0,16936,"",0,0],[262687,"Partial duplication of chromosome 19 syndrome",4,3,[],[],8,0,16937,"",0,0],[262692,"Partial duplication of chromosome 20 syndrome",4,3,[],[],8,0,16938,"",0,0],[262698,"Partial duplication of the short arm of chromosome 2 syndrome",4,3,[],[],8,0,16939,"",0,0],[262707,"Partial duplication of the short arm of chromosome 3 syndrome",4,3,[],[],8,0,16940,"",0,0],[262716,"Partial duplication of the short arm of chromosome 4 syndrome",4,3,[],[],8,0,16941,"",0,0],[262725,"Partial duplication/triplication of the short arm of chromosome 5 syndrome",4,3,[],[],8,0,16942,"",0,0],[262740,"Partial duplication of the short arm of chromosome 6 syndrome",4,3,[],[],8,0,16943,"",0,0],[262749,"Partial duplication of the short arm of chromosome 7 syndrome",4,3,[],[],8,0,16944,"",0,0],[262758,"Partial duplication of the short arm of chromosome 8 syndrome",4,3,[],[],8,0,16945,"",0,0],[262767,"Partial duplication/triplication of the short arm of chromosome 9 syndrome",4,3,[],[],8,0,16526,"",0,0],[262776,"Partial duplication of the short arm of chromosome 10 syndrome",4,3,[],[],8,0,16947,"",0,0],[262785,"Partial duplication of the short arm of chromosome 11 syndrome",4,3,[],[],8,0,16948,"",0,0],[262794,"Partial duplication of the short arm of chromosome 16 syndrome",4,3,[],[],8,0,16949,"",0,0],[262803,"Partial duplication of the short arm of chromosome 17 syndrome",4,3,[],[],8,0,16950,"",0,0],[262812,"Partial duplication/triplication of the short arm of chromosome 18 syndrome",4,3,[],[],8,0,16951,"",0,0],[262833,"Partial duplication of the long arm of chromosome 1 syndrome",4,3,[],[],8,0,16952,"",0,0],[262842,"Partial duplication of the long arm of chromosome 2 syndrome",4,3,[],[],8,0,16953,"",0,0],[262851,"Partial duplication of the long arm of chromosome 3 syndrome",4,3,[],[],8,0,16954,"",0,0],[262860,"Partial duplication of the long arm of chromosome 4 syndrome",4,3,[],[],8,0,16955,"",0,0],[262869,"Partial duplication of the long arm of chromosome 5 syndrome",4,3,[],[],8,0,16956,"",0,0],[262878,"Partial duplication of the long arm of chromosome 6 syndrome",4,3,[],[],8,0,16957,"",0,0],[262887,"Partial duplication of the long arm of chromosome 7 syndrome",4,3,[],[],8,0,16958,"",0,0],[262896,"Partial duplication of the long arm of chromosome 8 syndrome",4,3,[],[],8,0,16959,"",0,0],[262905,"Partial duplication of the long arm of chromosome 9 syndrome",4,3,[],[],8,0,16960,"",0,0],[262914,"Partial duplication of the long arm of chromosome 10 syndrome",4,3,[],[],8,0,16961,"",0,0],[262923,"Partial duplication of the long arm of chromosome 11 syndrome",4,3,[],[],8,0,22173,"",0,0],[262932,"Partial duplication of the long arm of chromosome 13 syndrome",4,3,[],[],8,0,22177,"",0,0],[262941,"Partial duplication of the long arm of chromosome 14 syndrome",4,3,[],[],5,0,16964,"",0,0],[262950,"Partial duplication of the long arm of chromosome 15 syndrome",4,3,[],[],8,0,16965,"",0,0],[262959,"Partial duplication of the long arm of chromosome 16 syndrome",4,3,[],[],8,0,16966,"",0,0],[262968,"Partial duplication of the long arm of chromosome 17 syndrome",4,3,[],[],8,0,16967,"",0,0],[262977,"Partial duplication of the long arm of chromosome 18 syndrome",4,3,[],[],8,0,16968,"",0,0],[262986,"Partial duplication of the long arm of chromosome 19 syndrome",4,3,[],[],8,0,16969,"",0,0],[262995,"Partial duplication of the long arm of chromosome 20 syndrome",4,3,[],[],8,0,16970,"",0,0],[263004,"Partial duplication of the long arm of chromosome 22 syndrome",4,3,[],[],8,0,16972,"",0,0],[263297,"Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency",0,2,[0],[2],5,1,13291,"GYG1",1,0],[263310,"Thymoma type A",10,11,[2],[6],5,0,2588,"",0,0],[263317,"Thymoma type B",10,11,[2],[6],5,0,16974,"",0,0],[263324,"Thymoma type AB",10,11,[2],[6],5,0,16975,"",0,0],[263331,"Well-differentiated thymic neuroendocrine carcinoma",10,11,[2],[6],8,0,16976,"",0,0],[263335,"Moderately-differentiated thymic neuroendocrine carcinoma",10,11,[2],[6],8,0,16977,"",0,0],[263339,"Poorly differentiated thymic neuroendocrine carcinoma",10,11,[2],[6],8,0,16978,"",0,0],[263347,"MRCS syndrome",0,10,[1],[2],5,1,16979,"BEST1",0,0],[263352,"Postcardiotomy right ventricular failure",5,7,[2],[3],3,0,0,"",0,0],[263410,"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome",0,3,[0],[0,1],5,1,16981,"SLC19A3",0,0],[263413,"Angiosarcoma",0,11,[2],[6],5,0,16982,"",0,0],[263425,"Nevus of Ota",0,5,[2],[3],8,0,16984,"",0,0],[263432,"Nevus of Ito",0,5,[2],[3],8,0,16985,"",0,0],[263435,"Congenital smooth muscle hamartoma",0,5,[2],[0,1],2,0,16986,"",0,0],[263440,"Neuroacanthocytosis",3,1,[],[],8,0,16987,"",0,0],[263455,"Congenital hyperinsulinism due to HNF4A deficiency",0,2,[1],[0,1],8,1,16988,"HNF4A",0,0],[263458,"Hyperinsulinism due to INSR deficiency",0,15,[1],[5,6],5,1,12381,"INSR",1,0],[263463,"CHST3-related skeletal dysplasia",0,0,[0],[4,0],5,1,7738,"CHST3",1,0],[263479,"Fuchs heterochromic iridocyclitis",0,10,[],[6],4,0,16989,"",0,0],[263482,"Spondyloepimetaphyseal dysplasia, Maroteaux type",0,0,[2],[0,1],5,1,8473,"TRPV4",0,0],[263487,"COG5-CDG",0,2,[0],[2],5,1,13325,"COG5",1,0],[263494,"DPM3-CDG",0,2,[0],[2],5,1,13049,"DPM3",1,0],[263501,"COG4-CDG",0,2,[0],[0,1],5,1,13281,"COG4",1,0],[263508,"COG1-CDG",0,2,[0],[0,1],5,1,12637,"COG1",1,0],[263516,"Progressive myoclonic epilepsy type 3",0,1,[0],[1,2],5,1,12721,"KCTD7",1,0],[263524,"Acute necrotizing encephalopathy of childhood",0,8,[2],[2],8,2,16991,"CPT2 RANBP2",0,0],[263534,"Acral peeling skin syndrome",0,5,[0],[0,1],5,2,12345,"TGM5 CSTA",1,0],[263543,"Generalized peeling skin syndrome",0,5,[0],[0,1],8,0,10033,"",0,0],[263548,"Peeling skin syndrome type A",2,5,[0],[0,1],5,3,14555,"CHST8 SERPINB8 FLG2",0,0],[263553,"Peeling skin syndrome type B",2,5,[0],[0,1],5,1,24548,"CDSN",1,0],[263662,"Familial multiple meningioma",0,1,[1],[3],8,5,16995,"SMARCB1 SUFU PDGFB SMARCE1 MN1",0,0],[263665,"NK-cell enteropathy",0,12,[2],[6],5,0,16996,"",0,0],[263708,"Complex chromosomal rearrangement syndrome",4,3,[],[],8,0,16998,"",0,0],[263714,"X chromosome number anomaly syndrome",4,3,[],[],8,0,16999,"",0,0],[263717,"X chromosome number anomaly with female phenotype syndrome",4,3,[],[],8,0,17000,"",0,0],[263720,"X chromosome number anomaly with male phenotype syndrome",4,3,[],[],8,0,17001,"",0,0],[263723,"Polysomy of X chromosome syndrome",4,3,[],[],8,0,17002,"",0,0],[263726,"Partial deletion of chromosome X syndrome",4,3,[],[],8,0,17003,"",0,0],[263731,"Partial deletion of the short arm of the chromosome X syndrome",4,3,[],[],8,0,17004,"",0,0],[263746,"Y chromosome number anomaly syndrome",4,3,[],[],8,0,17005,"",0,0],[263749,"X and Y chromosomal anomaly syndrome",4,3,[],[],8,0,17006,"",0,0],[263756,"Partial deletion of the long arm of chromosome X syndrome",4,3,[],[],8,0,17007,"",0,0],[263768,"Partial duplication of chromosome X syndrome",4,3,[],[],8,0,17008,"",0,0],[263775,"Partial duplication of the short arm of chromosome X syndrome",4,3,[],[],8,0,17009,"",0,0],[263783,"Partial duplication of the long arm of chromosome X syndrome",4,3,[],[],8,0,17010,"",0,0],[263793,"Uniparental disomy of chromosome X syndrome",4,3,[],[],8,0,17011,"",0,0],[264200,"14q22q23 microdeletion syndrome",1,3,[2],[4,0,1],5,0,12324,"",0,0],[264431,"Partial duplication of the short arm of chromosome 1 syndrome",4,3,[],[],8,0,17012,"",0,0],[264450,"Trisomy 8p syndrome",1,3,[],[4,0],3,0,17013,"",0,0],[264580,"Glycogen storage disease due to liver phosphorylase kinase deficiency",0,2,[0,5],[2],3,2,20693,"PHKA2 PHKG2",0,0],[264656,"Interstitial lung disease specific to childhood",4,9,[],[],8,0,17014,"",0,0],[264665,"Primary interstitial lung disease specific to childhood",4,9,[],[],8,0,17015,"",0,0],[264670,"Primary interstitial lung disease specific to childhood due to alveolar structure disorder",4,9,[],[],8,0,17016,"",0,0],[264675,"Hereditary pulmonary alveolar proteinosis",0,9,[0],[1,2,5,6,7],5,2,12580,"CSF2RB CSF2RA",0,0],[264683,"Primary interstitial lung disease specific to childhood due to alveolar vascular disorder",4,9,[],[],8,0,17017,"",0,0],[264688,"Congenital chylothorax",0,9,[2,4],[0,1],3,0,11331,"",0,0],[264691,"Isolated pulmonary capillaritis",0,9,[2],[2],8,0,17018,"",0,0],[264694,"Interstitial lung disease specific to infancy",4,9,[],[],8,0,17019,"",0,0],[264699,"Secondary interstitial lung disease specific to childhood associated with a systemic disease",4,9,[],[],8,0,17020,"",0,0],[264704,"Secondary interstitial lung disease specific to childhood associated with a connective tissue disease",4,9,[],[],8,0,17021,"",0,0],[264709,"Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis",4,9,[],[],8,0,17022,"",0,0],[264714,"Secondary interstitial lung disease specific to childhood associated with a granulomatous disease",4,9,[],[],8,0,17023,"",0,0],[264719,"Secondary interstitial lung disease specific to childhood associated with a metabolic disease",4,9,[],[],8,0,17024,"",0,0],[264735,"Interstitial lung disease specific to adulthood",4,9,[],[],8,0,17026,"",0,0],[264740,"Primary interstitial lung disease specific to adulthood",4,9,[],[],8,0,17027,"",0,0],[264745,"Secondary interstitial lung disease specific to adulthood associated with a systemic disease",4,9,[],[],8,0,17028,"",0,0],[264757,"Interstitial lung disease in childhood and adulthood",4,9,[],[],8,0,17030,"",0,0],[264762,"Primary interstitial lung disease in childhood and adulthood",4,9,[],[],8,0,17031,"",0,0],[264930,"Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder",4,9,[],[],8,0,17032,"",0,0],[264935,"Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder",4,9,[],[],8,0,17033,"",0,0],[264944,"Secondary interstitial lung disease in childhood and adulthood",4,9,[],[],8,0,17034,"",0,0],[264949,"Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease",4,9,[],[],8,0,17035,"",0,0],[264968,"Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease",4,9,[],[],8,0,17037,"",0,0],[264973,"Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis",4,9,[],[],8,0,17038,"",0,0],[264978,"Drug or radiation exposure-related interstitial lung disease",5,9,[],[3],8,0,17039,"",0,0],[264984,"Exposure-related interstitial lung disease",4,9,[],[],8,0,17040,"",0,0],[264992,"Genetic interstitial lung disease",4,9,[],[],8,0,28569,"",0,0],[268114,"RAS-associated autoimmune leukoproliferative disease",0,16,[4],[1,2],5,2,13767,"KRAS NRAS",1,0],[268129,"Spheroid body myopathy",0,1,[1],[3],8,1,12215,"MYOT",1,0],[268139,"Intraocular medulloepithelioma",0,11,[2],[2],8,0,17050,"",0,0],[268145,"Classic maple syrup urine disease",2,2,[0],[0],6,3,17051,"BCKDHA BCKDHB DBT",0,0],[268162,"Intermediate maple syrup urine disease",2,2,[0],[0,1],6,4,17052,"BCKDHA BCKDHB DBT PPM1K",0,0],[268173,"Intermittent maple syrup urine disease",2,2,[0],[0,1,2],6,3,17053,"BCKDHA BCKDHB DBT",0,0],[268184,"Thiamine-responsive maple syrup urine disease",2,2,[0],[1],6,1,17054,"DBT",0,0],[268249,"Mycophenolate mofetil embryopathy",1,3,[2],[4,0,1],5,0,17055,"",0,0],[268261,"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion",7,3,[2,4],[0,1],5,1,17056,"DYRK1A",0,0],[268316,"Complication in hemodialysis",5,13,[2],[3],2,0,0,"",0,0],[268322,"Hereditary isolated thrombocytopenia with normal platelets size",0,4,[1,0,5],[3],8,0,17057,"",0,0],[268337,"Autosomal recessive intermediate Charcot-Marie-Tooth disease",3,1,[0],[],8,0,17058,"",0,0],[268357,"Neural tube closure defect",4,3,[],[],8,0,17059,"",0,0],[268363,"Open iniencephaly",2,3,[3,2],[0,1],8,0,17060,"",0,0],[268366,"Closed iniencephaly",2,3,[3,2],[0,1],8,0,17061,"",0,0],[268369,"Open spinal dysraphism",3,3,[3,2],[0,1],2,0,17062,"",0,0],[268744,"Spinal dysraphism with a posterior meningocele",3,3,[3,2],[0,1],2,0,17069,"",0,0],[268810,"Isolated posterior meningocele",6,3,[3,2],[0,1],8,0,17076,"",0,0],[268813,"Myelocystocele",3,3,[3,2],[0,1],8,0,17077,"",0,0],[268817,"Cephalocele",3,3,[],[],8,0,17078,"",0,0],[268820,"Cranial meningocele",6,3,[],[0,1],8,0,17079,"",0,0],[268823,"Occipital encephalocele",2,3,[1],[],8,1,17080,"DACT1",0,0],[268826,"Parietal encephalocele",2,3,[],[],8,0,17081,"",0,0],[268829,"Basal encephalocele",2,3,[],[],8,0,17082,"",0,0],[268843,"Malformation of the neurenteric canal, spinal cord and column",4,3,[],[],8,0,17085,"",0,0],[268861,"Primary tethered cord syndrome",6,3,[],[0,1],8,0,17086,"",0,0],[268865,"Neurenteric cyst",6,3,[],[0,1],8,0,17087,"",0,0],[268868,"Isolated amyelia",6,3,[],[0,1],8,0,17088,"",0,0],[268882,"Arnold-Chiari malformation type I",6,3,[4],[0,1],8,1,7316,"DKK1",0,0],[268926,"Midline cerebral malformation",4,3,[],[],8,0,17090,"",0,0],[268936,"Isolated arhinencephaly",6,3,[],[0,1],8,0,968959,"",0,0],[268940,"Bilateral polymicrogyria",6,3,[0,7],[0,1],8,0,17091,"",1,0],[268943,"Unilateral polymicrogyria",6,3,[],[0,1],8,0,17092,"",0,0],[268947,"Unilateral focal polymicrogyria",2,3,[],[4,0,1],8,0,17093,"",0,0],[268950,"Cerebral cortical dysplasia",3,3,[],[],8,0,17094,"",0,0],[268961,"Isolated focal cortical dysplasia type I",2,1,[],[],8,0,17095,"",0,0],[268973,"Isolated focal cortical dysplasia type Ia",10,1,[2],[],8,1,17096,"SLC35A2",0,0],[268980,"Isolated focal cortical dysplasia type Ib",10,1,[],[],8,0,17097,"",0,0],[268987,"Isolated focal cortical dysplasia type Ic",10,1,[],[],8,0,17098,"",0,0],[268994,"Isolated focal cortical dysplasia type II",2,1,[],[],8,0,11818,"",0,0],[269001,"Isolated focal cortical dysplasia type IIa",10,1,[2],[],8,2,17101,"TSC2 MTOR",0,0],[269008,"Isolated focal cortical dysplasia type IIb",10,1,[2],[],8,3,17102,"TSC1 TSC2 MTOR",0,0],[269190,"Encephaloclastic disorder",3,3,[],[],8,0,17103,"",0,0],[269194,"Central nervous system cystic malformation",4,3,[],[],8,0,17104,"",0,0],[269197,"Glioependymal/ependymal cyst",6,3,[],[0,1],8,0,17105,"",0,0],[269203,"Isolated cerebellar vermis agenesis",6,3,[],[0,1],6,0,17107,"",0,0],[269206,"Isolated total cerebellar vermis agenesis",2,3,[],[],8,0,17108,"",0,0],[269209,"Isolated partial cerebellar vermis agenesis",2,3,[],[],8,0,17109,"",0,0],[269218,"Isolated unilateral hemispheric cerebellar hypoplasia/dysplasia",6,3,[],[0,1],8,0,17112,"",0,0],[269221,"Isolated bilateral hemispheric cerebellar hypoplasia",6,3,[],[0,1],8,0,17113,"",0,0],[269224,"Global cerebellar malformation",4,3,[],[],8,0,17114,"",0,0],[269229,"Pontine tegmental cap dysplasia",6,3,[2],[0,1],5,0,13858,"",0,0],[269505,"Congenital communicating hydrocephalus",2,3,[0],[],8,3,17116,"MPDZ WDR81 TRIM71",0,0],[269510,"Congenital non-communicating hydrocephalus",2,3,[0],[],8,2,17117,"CCDC88C WDR81",0,0],[269523,"Syndrome with a cerebellar malformation as a major feature",4,3,[],[],8,0,17118,"",0,0],[269528,"Syndrome with microcephaly as a major feature",4,3,[],[],8,0,17119,"",0,0],[269531,"Other syndrome with a central nervous system malformation as a major feature",4,3,[],[],8,0,17120,"",0,0],[269546,"Syndrome with a Dandy-Walker malformation as a major feature",4,3,[],[],8,0,17121,"",0,0],[269553,"Genetic cerebral malformation",4,3,[],[],8,0,957008,"",0,0],[269560,"Genetic cerebellar malformation",4,3,[],[],8,0,0,"",0,0],[269564,"Genetic syndrome with a central nervous system malformation as a major feature",4,3,[],[],8,0,0,"",0,0],[269567,"Genetic syndrome with a cerebellar malformation as a major feature",4,3,[],[],8,0,0,"",0,0],[269570,"Genetic syndrome with a Dandy-Walker malformation as a major feature",4,3,[],[],8,0,0,"",0,0],[269573,"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature",4,3,[],[],8,0,17122,"",0,0],[271832,"Genetic soft tissue tumor",4,5,[],[],8,0,17127,"",0,0],[271835,"Genetic digestive tract tumor",4,12,[],[],8,0,17128,"",0,0],[271841,"Genetic cardiac tumor",4,7,[],[],8,0,17129,"",0,0],[271844,"Genetic urogenital tumor",4,11,[],[],8,0,17130,"",0,0],[271847,"Genetic neuroendocrine tumor",4,11,[],[],8,0,25511,"",0,0],[271853,"Genetic cardiac anomaly",4,3,[],[],8,0,17131,"",0,0],[271861,"Hereditary ATTR amyloidosis",0,14,[1],[],4,0,7100,"",1,0],[271870,"Rare genetic systemic or rheumatologic disease",4,14,[],[],8,0,28795,"",0,0],[275517,"Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency",0,16,[0],[2],5,1,11804,"CASP8",1,0],[275523,"Dianzani autoimmune lymphoproliferative disease",0,16,[4],[3],5,0,11524,"",0,0],[275543,"L1 syndrome",1,3,[5],[4,0,1],8,0,17140,"",1,0],[275555,"Preeclampsia",0,19,[2],[6],2,3,5081,"STOX1 CORIN FLT1",0,0],[275729,"Rare hemorrhagic disorder due to a constitutional thrombocytopenia",4,4,[],[],8,0,17141,"",0,0],[275736,"Rare hemorrhagic disorder due to a qualitative platelet defect",4,4,[],[],8,0,17142,"",0,0],[275742,"Genetic infertility",4,20,[],[],8,0,17143,"",1,0],[275745,"Alpha-thalassemia and related disorders",4,4,[],[],8,0,17144,"",0,0],[275749,"Beta-thalassemia and related disorders",4,4,[],[],8,0,17145,"",1,0],[275752,"Sickle cell disease",4,4,[],[],8,0,17146,"",1,0],[275761,"Lysosomal acid lipase deficiency",0,2,[0],[0,1,2,5,6],3,0,800449,"",1,0],[275766,"Idiopathic pulmonary arterial hypertension",7,9,[2],[3],4,0,1999,"",0,0],[275777,"Heritable pulmonary arterial hypertension",7,9,[1,0],[3],5,11,17148,"ACVRL1 BMPR2 TBX4 ENG CAV1 SMAD9 SOX17 KCNK3 GDF2 EIF2AK4 ATP13A3",0,0],[275786,"Drug- or toxin-induced pulmonary arterial hypertension",3,9,[3],[2,5,6,7],4,1,17149,"BMPR2",0,0],[275791,"Pulmonary arterial hypertension associated with another disease",4,9,[2],[3],6,0,17150,"",0,0],[275798,"Pulmonary arterial hypertension associated with connective tissue disease",3,9,[2],[3],4,1,17151,"HLA-B",0,0],[275803,"Pulmonary arterial hypertension associated with congenital heart disease",3,9,[2],[3],4,0,17152,"",0,0],[275808,"Pulmonary arterial hypertension associated with HIV infection",3,9,[2],[6],6,0,17153,"",0,0],[275813,"Pulmonary arterial hypertension associated with portal hypertension",3,9,[11],[6],6,0,17154,"",0,0],[275823,"Pulmonary arterial hypertension associated with schistosomiasis",3,9,[2],[3],6,0,17155,"",0,0],[275828,"Pulmonary arterial hypertension associated with chronic hemolytic anemia",3,9,[3,2],[3],6,0,17156,"",0,0],[275837,"Pulmonary hypertension owing to lung disease and/or hypoxia",3,9,[],[],8,0,17157,"",0,0],[275844,"Pulmonary hypertension with unclear multifactorial mechanism",3,9,[],[],8,0,17158,"",0,0],[275853,"Syndrome with pulmonary hypertension as a major feature",4,9,[],[],8,0,17159,"",0,0],[275864,"Behavioral variant of frontotemporal dementia",0,1,[1],[6],3,9,17160,"PSEN1 CHMP2B TREM2 VCP MAPT GRN SQSTM1 C9ORF72 TMEM106B",0,0],[275872,"Frontotemporal dementia with motor neuron disease",0,1,[1],[6],8,7,17161,"VCP TARDBP FUS SQSTM1 C9ORF72 TBK1 CHCHD10",0,0],[275938,"Hemolytic disease due to fetomaternal alloimmunization",4,4,[],[],8,0,17163,"",0,0],[275944,"Hemolytic disease of the newborn with Kell alloimmunization",0,4,[],[0,1],0,0,17164,"",0,0],[276058,"Genetic neurodegenerative disease with dementia",4,1,[],[],8,0,21037,"",0,0],[276061,"Genetic frontotemporal degeneration with dementia",4,1,[],[],8,0,28868,"",0,0],[276066,"Bile acid CoA ligase deficiency and defective amidation",0,17,[4],[0,1],8,0,17165,"",0,0],[276142,"Rare tumor of salivary glands",4,11,[],[],8,0,17166,"",0,0],[276145,"Malignant epithelial tumor of salivary glands",0,11,[2],[6],4,1,17167,"PRKD1",0,0],[276148,"Benign epithelial tumor of salivary glands",0,12,[2],[],8,2,17168,"HMGA2 PLAG1",0,0],[276152,"Multiple endocrine neoplasia type 4",0,11,[1,2],[6],8,1,12552,"CDKN1B",1,0],[276161,"Multiple endocrine neoplasia",3,11,[1,2],[3],5,0,17169,"",1,0],[276174,"Idiopathic recurrent stupor",0,1,[2],[6],8,0,17170,"",0,0],[276183,"Spinocerebellar ataxia type 32",0,1,[1],[6],5,1,13486,"SCA32",0,0],[276193,"Spinocerebellar ataxia type 35",0,1,[1],[5,6],5,1,13485,"TGM6",1,0],[276198,"Spinocerebellar ataxia type 36",0,1,[1],[6],6,1,13594,"NOP56",1,0],[276212,"Mucopolysaccharidosis type 6, rapidly progressing",2,2,[0],[],8,1,17171,"ARSB",0,0],[276223,"Mucopolysaccharidosis type 6, slowly progressing",2,2,[0],[],8,1,17172,"ARSB",0,0],[276234,"Non-syndromic male infertility due to sperm motility disorder",0,20,[0],[6],8,26,17173,"AK9 SSX1 CATSPER1 DRC1 SLC26A8 SEPTIN12 DNAH1 CFAP251 CFAP43 CFAP44 SPAG17 AK7 CFAP69 FSIP2 ARMC2 TTC21A SPEF2 DNAH17 CFAP65 CFAP70 TTC29 AKAP4 ACTL9 USP26 TEKT3 DNALI1",1,0],[276238,"Machado-Joseph disease type 1",2,1,[1],[2,6],8,1,17174,"ATXN3",0,0],[276241,"Machado-Joseph disease type 2",2,1,[1],[6],8,1,17175,"ATXN3",0,0],[276244,"Machado-Joseph disease type 3",2,1,[1],[6],8,1,17176,"ATXN3",0,0],[276280,"Hemihyperplasia-multiple lipomatosis syndrome",1,3,[2],[2],5,1,17177,"PIK3CA",0,0],[276399,"Familial multinodular goiter",0,15,[1],[5],8,2,7681,"DICER1 KEAP1",0,0],[276405,"Hyperbiliverdinemia",0,17,[1,0],[6],5,1,13595,"BLVRA",1,0],[276413,"10q22.3q23.3 microdeletion syndrome",1,3,[2,4],[0,1],8,0,12830,"",0,0],[276422,"10q22.3q23.3 microduplication syndrome",1,3,[2,4],[0,1],8,0,17180,"",0,0],[276429,"Hypnic headache",0,1,[2],[2,6,7],8,0,17181,"",0,0],[276432,"Ogden syndrome",1,3,[7,5],[0,1],5,1,10457,"NAA10",1,0],[276435,"Lower motor neuron syndrome with late-adult onset",0,1,[1],[6],5,1,14025,"CHCHD10",1,0],[276525,"Familial hyperinsulinism",4,15,[],[],8,0,17182,"",1,0],[276556,"Hyperinsulinism due to UCP2 deficiency",0,2,[1],[0,1],5,1,17183,"UCP2",1,0],[276575,"Autosomal dominant hyperinsulinism due to SUR1 deficiency",0,2,[1],[0,1],8,1,17184,"ABCC8",0,0],[276580,"Autosomal dominant hyperinsulinism due to Kir6.2 deficiency",0,2,[1],[0,1],8,1,17185,"KCNJ11",0,0],[276585,"Diazoxide-resistant hyperinsulinism",3,15,[],[],8,0,17186,"",0,0],[276598,"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency",0,15,[0],[0,1],8,1,17187,"ABCC8",0,0],[276603,"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency",0,15,[0],[0,1],8,1,17188,"KCNJ11",0,0],[276608,"Non-insulinoma pancreatogenous hypoglycemia syndrome",0,15,[1,2],[6],8,0,17189,"",0,0],[276621,"Sporadic pheochromocytoma/secreting paraganglioma",0,15,[2],[2,5,6],6,6,17190,"RET SDHB SDHD VHL EPAS1 DNMT3A",0,0],[276630,"Symptomatic form of Coffin-Lowry syndrome in female carriers",1,3,[1,2],[4,0,1],8,1,17193,"RPS6KA3",0,0],[279882,"Spasmus nutans",9,10,[4],[1],6,0,17201,"",0,0],[279888,"Acute endophthalmitis",2,10,[2],[3],8,0,17202,"",0,0],[279891,"Chronic endophthalmitis",2,10,[2],[3],8,0,17203,"",0,0],[279894,"Toxic maculopathy due to antimalarial drugs",0,10,[2],[3],8,0,17204,"",0,0],[279897,"Primary oculocerebral lymphoma",0,11,[2],[6],8,0,17205,"",0,0],[279911,"Primary organ-specific lymphoma",4,11,[],[],8,0,17207,"",0,0],[279914,"Intermediate uveitis",0,10,[2],[2],8,0,6806,"",0,0],[279919,"Infectious posterior uveitis",0,10,[],[3],2,0,17209,"",0,0],[279922,"Infectious anterior uveitis",0,10,[],[3],2,0,17210,"",0,0],[279925,"Infectious panuveitis",0,10,[],[3],3,0,17211,"",0,0],[279928,"Paraneoplastic uveitis",0,10,[],[6],5,0,17212,"",0,0],[279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",0,16,[0],[0,1,2],5,1,9636,"DGUOK",1,0],[279943,"Hereditary neutrophilia",0,16,[1],[3],5,1,8092,"CSF3R",1,0],[279947,"Postorgasmic illness syndrome",9,14,[2],[5,6],5,0,17213,"",0,0],[280062,"Calciphylaxis",0,14,[2],[6],6,0,17215,"",0,0],[280065,"Calciphylaxis cutis",2,14,[],[],8,0,17216,"",0,0],[280068,"Visceral calciphylaxis",2,14,[],[],8,0,17217,"",0,0],[280071,"ALG11-CDG",0,2,[0],[0,1],5,1,13349,"ALG11",1,0],[280133,"Complement component 3 deficiency",0,16,[0],[2],5,1,13417,"C3",1,0],[280142,"Combined immunodeficiency due to LCK deficiency",0,16,[0],[0,1],5,1,14334,"LCK",1,0],[280183,"Methylmalonic aciduria due to transcobalamin receptor defect",8,2,[0],[0,1],5,1,13341,"CD320",1,0],[280195,"Septopreoptic holoprosencephaly",2,3,[3],[0,1],8,15,17218,"PTCH1 SHH SIX3 TGIF1 ZIC2 GLI2 CRIPTO FOXH1 STIL FGF8 DISP1 CDON NODAL DLL1 GAS1",0,0],[280200,"Microform holoprosencephaly",1,3,[3],[0,1,2],8,16,17219,"PTCH1 SHH SIX3 SUFU TGIF1 ZIC2 FGFR1 GLI2 CRIPTO FOXH1 FGF8 DISP1 CDON NODAL DLL1 GAS1",0,0],[280205,"Laryngotracheoesophageal cleft type 0",2,3,[],[],8,0,17220,"",0,0],[280210,"Pelizaeus-Merzbacher disease, connatal form",2,1,[5],[0,1],5,1,17221,"PLP1",0,0],[280219,"Pelizaeus-Merzbacher disease, classic form",2,1,[5],[0,1],4,1,17222,"PLP1",0,0],[280224,"Pelizaeus-Merzbacher disease, transitional form",2,1,[5],[0,1],5,1,17223,"PLP1",0,0],[280229,"Pelizaeus-Merzbacher disease in female carriers",2,1,[5],[6],8,1,17224,"PLP1",0,0],[280234,"Null syndrome",2,1,[5],[2],8,1,17225,"PLP1",0,0],[280270,"Pelizaeus-Merzbacher-like disease",0,3,[0],[0,1],8,1,17226,"MAL",0,0],[280282,"Pelizaeus-Merzbacher-like disease due to GJC2 mutation",2,1,[0],[0,1],8,1,12125,"GJC2",1,0],[280288,"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation",2,1,[0],[0,1],8,1,12824,"HSPD1",1,0],[280293,"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation",2,1,[0],[0,1],8,1,9843,"AIMP1",1,0],[280302,"Autoimmune pancreatitis type 1",2,12,[2],[6],8,0,17227,"",0,0],[280315,"Autoimmune pancreatitis type 2",0,12,[2],[6],4,0,17228,"",0,0],[280325,"Distal deletion 12p syndrome",1,3,[],[0,1],5,1,17229,"ERC1",0,0],[280333,"Alpha-dystroglycan-related limb-girdle muscular dystrophy R16",0,1,[0],[2],5,1,13440,"DAG1",1,0],[280342,"Rare systemic or rheumatological disease of childhood",4,14,[],[],8,0,29014,"",0,0],[280356,"PLIN1-related familial partial lipodystrophy",0,15,[1],[2],5,1,13478,"PLIN1",1,0],[280365,"Autosomal semi-dominant severe lipodystrophic laminopathy",0,15,[8],[6],5,1,17230,"LMNA",0,0],[280369,"Rare pediatric vasculitis",4,14,[],[],8,0,0,"",0,0],[280373,"Rare pediatric systemic disease",4,14,[],[],8,0,0,"",0,0],[280379,"Erythropoietic uroporphyria associated with myeloid malignancy",0,5,[0],[6],8,0,17231,"",0,0],[280384,"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome",0,3,[0],[0,1],5,1,17232,"ERLIN2",0,0],[280397,"Familial Alzheimer-like prion disease",0,1,[1],[6],5,1,17233,"PRNP",0,0],[280400,"Inherited human prion disease",4,1,[],[],8,0,17234,"",0,0],[280403,"Familial omphalocele syndrome with facial dysmorphism",1,3,[1],[0,1],5,0,17235,"",0,0],[280406,"Familial steroid-resistant nephrotic syndrome with sensorineural deafness",0,13,[0],[0,1],5,1,13836,"COQ6",1,0],[280553,"Fatal infantile hypertonic myofibrillar myopathy",0,1,[0],[0,1],5,1,13472,"CRYAB",1,0],[280558,"Warsaw breakage syndrome",1,3,[0],[0,1],5,1,13252,"DDX11",1,0],[280576,"Nestor-Guillermo progeria syndrome",1,0,[0],[2],5,1,13523,"BANF1",1,0],[280586,"Chondrodysplasia with joint dislocations, gPAPP type",1,0,[0],[0,1],5,1,13561,"BPNT2",1,0],[280598,"Hereditary sensorimotor neuropathy with hyperelastic skin",0,1,[1],[3],5,1,17237,"FBLN5",0,0],[280615,"Low oxygen affinity gamma chain hemoglobin disease",7,4,[1],[0,1],5,1,17238,"HBG2",0,0],[280620,"Progressive myoclonic epilepsy type 6",0,1,[0],[2],5,1,13526,"GOSR2",1,0],[280628,"Familial progressive hyper- and hypopigmentation",0,5,[1],[0,1],5,1,17239,"KITLG",0,0],[280633,"Multiple congenital anomalies-hypotonia-seizures syndrome",1,3,[0],[4,0,1],5,1,13563,"PIGN",1,0],[280640,"Occipital pachygyria and polymicrogyria",1,3,[0],[0,1],5,1,13583,"LAMC3",1,0],[280654,"Autosomal recessive nail dysplasia",0,5,[0],[1,2],5,1,29051,"FZD6",1,0],[280671,"Megaconial congenital muscular dystrophy",0,1,[0],[0,1],5,1,11246,"CHKB",1,0],[280679,"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome",0,3,[5],[3],5,1,10448,"BRCC3",0,0],[280763,"Severe intellectual disability and progressive spastic paraplegia",0,3,[0],[0,1],5,4,100176,"AP4M1 AP4E1 AP4B1 AP4S1",4,0],[280774,"Generalized essential telangiectasia",0,5,[2],[5,6],8,0,8534,"",0,0],[280779,"Cutaneous collagenous vasculopathy",0,5,[2],[6],5,0,17242,"",0,0],[280785,"Bullous diffuse cutaneous mastocytosis",2,5,[2],[0,1],5,1,17243,"KIT",0,0],[280794,"Pseudoxanthomatous diffuse cutaneous mastocytosis",2,5,[2],[0,1],5,1,17244,"KIT",0,0],[280802,"Intralobar congenital pulmonary sequestration",2,3,[],[],8,0,17245,"",0,0],[280811,"Extralobar congenital pulmonary sequestration",2,3,[],[],8,0,17246,"",0,0],[280821,"Communicating congenital bronchopulmonary-foregut malformation",2,3,[],[],8,0,17247,"",0,0],[280827,"Congenital pulmonary airway malformation type 0",2,3,[],[4,0],8,0,17248,"",0,0],[280832,"Congenital pulmonary airway malformation type 1",2,3,[],[4,0],8,0,17249,"",0,0],[280840,"Congenital pulmonary airway malformation type 2",2,3,[],[4,0],8,0,17250,"",0,0],[280847,"Congenital pulmonary airway malformation type 3",2,3,[],[4,0],8,0,17251,"",0,0],[280854,"Congenital pulmonary airway malformation type 4",2,3,[],[4,0],8,0,17252,"",0,0],[280886,"Anterior uveitis",4,10,[2],[3],0,0,6651,"",0,0],[280892,"Posterior uveitis",4,10,[2],[3],8,0,1280,"",0,0],[280898,"Panuveitis",4,10,[2],[3],8,0,17255,"",0,0],[280914,"Isolated idiopathic anterior uveitis",0,10,[],[],8,0,17256,"",0,0],[280917,"Idiopathic posterior uveitis",0,10,[],[],8,0,17257,"",0,0],[280921,"Idiopathic panuveitis",0,10,[2],[2,5,6,7],3,0,17258,"",0,0],[280926,"Systemic diseases with anterior uveitis",4,10,[],[2,5,6,7],8,0,17259,"",0,0],[280930,"Systemic diseases with posterior uveitis",4,10,[],[],8,0,17260,"",0,0],[280933,"Systemic diseases with panuveitis",4,10,[],[],8,0,17261,"",0,0],[281082,"Inherited non-syndromic ichthyosis",4,5,[],[],8,0,17262,"",0,0],[281085,"Inherited ichthyosis syndromic form",4,5,[],[],8,0,17263,"",0,0],[281090,"Syndromic recessive X-linked ichthyosis",0,5,[5],[2],3,1,17264,"STS",0,0],[281097,"Autosomal recessive congenital ichthyosis",3,5,[0],[0,1],4,0,17265,"",1,0],[281103,"Keratinopathic ichthyosis",3,5,[],[],4,0,17266,"",0,0],[281122,"Self-improving collodion baby",0,5,[0],[0],5,3,17267,"ALOX12B ALOXE3 TGM1",0,0],[281127,"Acral self-healing collodion baby",0,5,[0,4],[0,1],5,1,17268,"TGM1",0,0],[281139,"Annular epidermolytic ichthyosis",0,5,[1],[0,1],5,2,11870,"KRT1 KRT10",2,0],[281190,"Congenital reticular ichthyosiform erythroderma",0,5,[1],[0],5,2,12208,"KRT1 KRT10",1,0],[281201,"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome",0,5,[0],[0,1],8,1,11169,"POMP",1,0],[281210,"X-linked ichthyosis syndrome",3,5,[2,7,5],[],8,0,17269,"",0,0],[281217,"Autosomal ichthyosis syndrome",4,5,[],[],8,0,17270,"",0,0],[281222,"Autosomal ichthyosis syndrome with prominent hair abnormalities",4,5,[],[],8,0,17271,"",0,0],[281238,"Autosomal ichthyosis syndrome with prominent neurologic signs",4,5,[],[],8,0,17272,"",0,0],[281241,"Autosomal ichthyosis syndrome with fatal disease course",4,5,[],[],8,0,17273,"",0,0],[281244,"Autosomal ichthyosis syndrome with other associated signs",4,5,[],[],8,0,29102,"",0,0],[282124,"Partial deletion of chromosome 12 syndrome",4,3,[],[],8,0,17277,"",0,0],[282166,"Inherited Creutzfeldt-Jakob disease",0,1,[1],[6,7],8,1,7403,"PRNP",1,0],[282196,"Autoimmune polyendocrinopathy",3,15,[],[],8,0,17278,"",0,0],[284139,"Larsen-like syndrome, B3GAT3 type",1,0,[0],[0,1],5,1,9511,"B3GAT3",1,0],[284149,"Craniosynostosis-dental anomalies",1,3,[0],[0,1],8,1,13615,"IL11RA",1,0],[284160,"8q21.11 microdeletion syndrome",1,3,[1,2],[0,1],5,0,13646,"",0,0],[284169,"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion",2,3,[2,4],[1],5,1,17283,"WAC",0,0],[284180,"Xp22.13p22.2 duplication syndrome",1,3,[5],[0,1],8,0,17284,"",0,0],[284227,"TEMPI syndrome",9,14,[],[6],5,0,17286,"",0,0],[284232,"Autosomal dominant Charcot-Marie-Tooth disease type 2O",0,1,[1],[2],8,1,13644,"DYNC1H1",1,0],[284247,"Familial retinal arterial macroaneurysm",1,10,[0],[2],8,1,13640,"IGFBP7",1,0],[284264,"IgG4-related disease",3,14,[2],[6],8,0,17287,"",0,0],[284271,"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome",0,1,[0],[2],8,1,13645,"SYT14",0,0],[284282,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency",0,1,[0],[0,1],8,1,13687,"WWOX",1,0],[284289,"Adult-onset autosomal recessive cerebellar ataxia",0,1,[0],[6],5,1,13392,"ANO10",1,0],[284324,"Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia",0,1,[0],[2],8,1,12235,"TPP1",1,0],[284332,"Infantile-onset autosomal recessive nonprogressive cerebellar ataxia",0,1,[0],[0,1],8,0,11950,"",0,0],[284339,"Pontocerebellar hypoplasia type 7",2,3,[0],[0,1],5,1,13993,"TOE1",1,0],[284343,"DICER1 tumor-predisposition syndrome",0,11,[1],[2,5,6],8,1,100216,"DICER1",1,0],[284362,"Fetal lung interstitial tumor",2,11,[],[0,1],8,0,17289,"",0,0],[284385,"Familial intrahepatic cholestasis",4,17,[],[],8,0,17290,"",0,0],[284388,"Reversible cerebral vasoconstriction syndrome",9,1,[2],[6],6,0,17291,"",0,0],[284395,"Well-differentiated fetal adenocarcinoma of the lung",0,11,[2],[3],8,0,17292,"",0,0],[284400,"Small cell carcinoma of the bladder",0,11,[2],[6],5,0,4114,"",0,0],[284411,"Glycerol kinase deficiency, juvenile form",2,2,[5],[2,5],8,1,17295,"GK",0,0],[284414,"Glycerol kinase deficiency, adult form",2,2,[5],[6],8,1,17296,"GK",0,0],[284417,"Phosphoserine aminotransferase deficiency, infantile/juvenile form",7,1,[1],[0,1],8,1,12596,"PSAT1",1,0],[284426,"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency",2,2,[0],[2],8,1,13047,"LDHA",1,0],[284435,"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency",2,2,[1,0],[6],8,1,13587,"LDHB",0,0],[284448,"CLIPPERS",0,1,[2],[6],5,0,17297,"",0,0],[284454,"Acute zonal occult outer retinopathy",0,10,[2],[5,6],6,0,17298,"",0,0],[284460,"Acute annular outer retinopathy",0,10,[2],[6],5,0,17299,"",0,0],[284786,"Qualitative or quantitative defects of troponin",4,1,[],[],8,0,17302,"",0,0],[284790,"Qualitative or quantitative defects of tropomyosin",4,1,[],[],8,0,17303,"",0,0],[284804,"Ocular albinism",3,10,[],[],8,0,17304,"",1,0],[284811,"Syndromic oculocutaneous albinism",4,10,[],[],8,0,17305,"",0,0],[284814,"Disorder of phenylalanine metabolism",4,2,[],[],8,0,17306,"",0,0],[284818,"Disorder of tyrosine metabolism",4,2,[],[],8,0,17307,"",0,0],[284963,"Marfan syndrome type 1",2,14,[1],[3],8,1,7947,"FBN1",1,0],[284973,"Marfan syndrome type 2",2,14,[1],[3],8,2,12427,"TGFBR1 TGFBR2",1,0],[284979,"Neonatal Marfan syndrome",0,14,[1],[0,1],8,1,17309,"FBN1",0,0],[284984,"Aneurysm-osteoarthritis syndrome",0,14,[1],[3],5,1,13426,"SMAD3",1,0],[284993,"Marfan syndrome and Marfan-related disorders",4,14,[],[],8,0,17310,"",0,0],[285014,"Rare disease with thoracic aortic aneurysm and aortic dissection",4,23,[],[],8,0,17311,"",0,0],[285657,"Disorder of folate metabolism and transport",4,2,[],[],8,0,17313,"",0,0],[289098,"Disorders of vitamin D metabolism",4,0,[],[],8,0,17322,"",0,0],[289103,"Hypocalcemic rickets",3,0,[],[],8,0,17323,"",0,0],[289157,"Hypocalcemic vitamin D-dependent rickets",0,0,[0],[0,1],8,2,9924,"CYP27B1 CYP2R1",0,0],[289176,"Autosomal recessive hypophosphatemic rickets",0,0,[0],[1,2],8,2,17324,"DMP1 ENPP1",0,0],[289266,"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation",0,3,[1],[2],8,1,17325,"GRIN2A",1,0],[289290,"Hypermethioninemia encephalopathy due to adenosine kinase deficiency",0,1,[0],[2],8,1,100255,"ADK",1,0],[289307,"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency",0,2,[0],[0,1],8,1,13579,"ALDH6A1",1,0],[289326,"Tropical spastic paraparesis",0,8,[2],[6],8,0,8039,"",0,0],[289347,"Infective dermatitis associated with HTLV-1",0,8,[2],[2],8,0,17326,"",0,0],[289356,"Primary non-gestational choriocarcinoma of ovary",0,11,[4],[5],6,0,17327,"",0,0],[289362,"Non-central nervous system-localized embryonal carcinoma",2,11,[],[],8,0,17328,"",0,0],[289365,"Familial vesicoureteral reflux",1,26,[1],[3],8,3,17329,"TNXB ROBO2 SOX17",0,0],[289377,"Early-onset myopathy with fatal cardiomyopathy",0,1,[0],[0,1],8,1,12714,"TTN",1,0],[289380,"Myosclerosis",0,1,[0],[2],8,1,9714,"COL6A2",0,0],[289385,"Malignancy diagnosed during pregnancy",5,19,[],[6],8,0,17330,"",0,0],[289390,"Primary Sjögren disease",0,14,[2],[6],3,0,10030,"",0,0],[289465,"Isolated congenital adermatoglyphia",0,3,[1],[0,1],8,1,7619,"SMARCAD1",1,0],[289478,"PASH syndrome",0,5,[11],[6],5,1,17332,"NCSTN",0,0],[289483,"Intellectual disability-alacrima-achalasia syndrome",0,3,[5],[0,1],8,0,10460,"",0,0],[289494,"4H leukodystrophy",0,1,[],[1,2,5,6],6,0,100605,"",0,0],[289499,"Congenital cataract microcornea with corneal opacity",1,10,[0],[0,1],8,2,10015,"PXDN ATOH7",1,0],[289504,"Combined malonic and methylmalonic acidemia",0,2,[1,0],[3],3,1,13661,"ACSF3",1,0],[289513,"12q15q21 microdeletion syndrome",7,3,[1],[0,1],5,1,17334,"CNOT2",0,0],[289522,"Microtriplication 11q24.1 syndrome",1,3,[],[2],5,0,17335,"",0,0],[289539,"BAP1-related tumor predisposition syndrome",0,11,[1],[6],8,1,13692,"BAP1",1,0],[289548,"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency",0,15,[0],[0,1],8,1,17337,"CYP11A1",0,0],[289553,"Dysmorphism-conductive hearing loss-heart defect syndrome",1,3,[1],[0,1],8,0,14044,"",0,0],[289560,"Mitochondrial membrane protein-associated neurodegeneration",0,1,[0],[2,5,6],4,1,13674,"C19ORF12",1,0],[289573,"Multiple mitochondrial dysfunctions syndrome",3,1,[0],[],8,0,17338,"",0,0],[289586,"Exfoliative ichthyosis",0,5,[0],[0,1],8,2,17339,"CSTA SERPINB8",0,0],[289596,"Juvenile nasopharyngeal angiofibroma",0,18,[2],[2,5],4,0,17340,"",0,0],[289601,"Hereditary arterial and articular multiple calcification syndrome",0,23,[0],[6],5,1,8895,"NT5E",1,0],[289635,"Rare virus associated tumor",4,11,[],[],8,0,17341,"",0,0],[289638,"Epstein-Barr Virus-related tumor",4,11,[],[],8,0,17342,"",0,0],[289644,"Epstein-Barr virus-associated malignant lymphoproliferative disorder",4,11,[],[],8,0,17343,"",0,0],[289651,"Epstein-Barr Virus-associated carcinoma",4,11,[],[],8,0,17344,"",0,0],[289656,"Epstein-Barr Virus-associated mesenchymal tumor",4,11,[],[],8,0,17345,"",0,0],[289661,"Epstein-Barr virus-positive diffuse large B-cell lymphoma",0,11,[2],[6,7],6,0,17346,"",0,0],[289666,"Plasmablastic lymphoma",0,11,[],[],8,0,17347,"",0,0],[289682,"Lymphoepithelial-like carcinoma",0,11,[],[],8,0,17348,"",0,0],[289685,"Myopericytoma",0,11,[],[],8,0,17349,"",0,0],[289825,"Late-onset primary lymphedema without systemic or visceral involvement",3,3,[],[],8,0,0,"",0,0],[289829,"Disorder of tryptophan metabolism",4,2,[],[],8,0,17350,"",0,0],[289832,"Disorder of lysine and hydroxylysine metabolism",4,2,[],[],8,0,17351,"",0,0],[289841,"Disorder of glutamine metabolism",4,2,[],[],8,0,17352,"",0,0],[289846,"Glutathione synthetase deficiency with 5-oxoprolinuria",2,4,[0],[],8,1,9947,"GSS",1,0],[289849,"Glutathione synthetase deficiency without 5-oxoprolinuria",2,4,[0],[],8,1,9284,"GSS",0,0],[289857,"Neonatal glycine encephalopathy",2,1,[0],[0,1],8,3,17353,"AMT GCSH GLDC",0,0],[289860,"Infantile glycine encephalopathy",2,1,[0],[0,1],8,4,17354,"AMT GCSH GLDC SLC6A9",0,0],[289863,"Atypical glycine encephalopathy",2,1,[4],[3],5,4,15010,"AMT GCSH GLDC SLC6A9",1,0],[289866,"Disorder of proline metabolism",4,2,[],[],8,0,17355,"",0,0],[289869,"Disorder of ornithine metabolism",4,2,[],[],8,0,17356,"",0,0],[289877,"Transient hyperammonemia of the newborn",5,2,[],[0],8,0,17357,"",0,0],[289891,"Hypermethioninemia due to glycine N-methyltransferase deficiency",0,2,[0],[],8,1,11698,"GNMT",1,0],[289899,"Organic aciduria",4,2,[],[],8,0,688,"",0,0],[289902,"3-methylglutaconic aciduria",3,2,[],[],8,0,17359,"",0,0],[289916,"Vitamin B12-unresponsive methylmalonic acidemia type mut0",2,2,[0],[0,1],8,1,17360,"MMUT",0,0],[290836,"Systemic disease with skin involvement",4,5,[],[],8,0,17368,"",0,0],[290839,"Autoinflammatory syndrome with immune deficiency",4,16,[],[],8,0,17369,"",0,0],[290842,"Autoinflammatory syndrome with skin involvement",4,5,[],[],8,0,17370,"",0,0],[290849,"Rare head and neck tumor",4,11,[],[],8,0,17371,"",0,0],[293144,"Familial clubfoot due to 5q31 microdeletion",7,3,[2],[],8,1,17382,"PITX1",0,0],[293150,"Familial clubfoot due to PITX1 point mutation",7,3,[1],[],8,1,17383,"PITX1",1,0],[293165,"Skin fragility-woolly hair-palmoplantar keratoderma syndrome",0,5,[1,0],[2],5,1,11882,"DSP",1,0],[293168,"Infantile-onset ascending hereditary spastic paralysis",0,1,[0],[0,1],5,1,11797,"ALS2",1,0],[293173,"Acute generalized exanthematous pustulosis",0,5,[3,2],[3],5,0,17384,"",0,0],[293181,"Epilepsy of infancy with migrating focal seizures",0,1,[1,0,5],[0,1],5,9,17385,"SCN1A SCN2A SLC25A22 KCNQ2 PIGA TBC1D24 PLCB1 KCNT1 SLC12A5",1,0],[293199,"Pleomorphic rhabdomyosarcoma",2,11,[2],[1,2,5,6,7],5,2,17386,"TP53 NF1",0,0],[293202,"Epithelioid sarcoma",0,11,[2],[2,5,6],5,0,17387,"",0,0],[293208,"Celiac artery compression syndrome",0,24,[2],[2,5,6,7],8,0,17388,"",0,0],[293284,"Tetrahydrobiopterin-responsive phenylketonuria",2,2,[0],[0,1],8,1,17389,"PAH",0,0],[293355,"Methylmalonic acidemia without homocystinuria",3,2,[1,0,7],[3],3,0,17390,"",0,0],[293375,"Grayson-Wilbrandt corneal dystrophy",0,10,[1],[2,5,6],5,0,17391,"",0,0],[293381,"Epithelial recurrent erosion dystrophy",0,10,[1],[2],6,1,7381,"COL17A1",1,0],[293462,"Pre-Descemet corneal dystrophy",0,10,[4],[6],5,0,17392,"",0,0],[293603,"Congenital hereditary endothelial dystrophy type II",0,10,[0],[0,1],6,1,9019,"SLC4A11",1,0],[293621,"X-linked endothelial corneal dystrophy",0,10,[5],[0,1],5,0,10426,"",0,0],[293633,"PYCR1-related De Barsy syndrome",7,2,[0],[],8,1,13755,"PYCR1",1,0],[293642,"Blepharophimosis-intellectual disability syndrome",3,3,[1,0,6,5],[0,1],5,0,17393,"",0,0],[293707,"Blepharophimosis-intellectual disability syndrome, MKB type",1,3,[5],[0,1],8,1,10477,"MED12",1,0],[293725,"Blepharophimosis-intellectual disability syndrome, Verloes type",1,3,[4],[4,0,1],8,0,11432,"",0,0],[293807,"Ketamine-induced biliary dilatation",0,27,[2],[3],6,0,17394,"",0,0],[293812,"Fixed drug eruption",0,5,[2],[3],6,0,17395,"",0,0],[293815,"Toxic dermatosis",4,5,[2],[3],8,0,17396,"",0,0],[293822,"MITF-related melanoma and renal cell carcinoma predisposition syndrome",0,11,[],[6,7],5,1,13759,"MITF",1,0],[293825,"Autosomal dominant KLF1-related dyserythropoietic anemia",0,4,[1],[0,1],5,1,13355,"KLF1",1,0],[293830,"Constitutional dyserythropoietic anemia",4,4,[],[0,1],8,0,17397,"",0,0],[293843,"3MC syndrome",1,3,[0],[4,0],5,3,17398,"MASP1 COLEC11 COLEC10",0,0],[293864,"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome",1,3,[0],[0,1],5,1,17400,"RFX6",1,0],[293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",2,7,[1],[],8,11,17401,"PKP2 TGFB3 TTN DSC2 DSG2 DSP JUP LDB3 LMNA TMEM43 CTNNA3",0,0],[293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",2,7,[1],[],8,11,17402,"PKP2 TGFB3 TTN DSC2 DSG2 DSP JUP LDB3 LMNA TMEM43 CTNNA3",0,0],[293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",2,7,[1],[],8,15,17403,"PKP2 TGFB3 TTN DSC2 DSG2 DSP JUP LDB3 LMNA TMEM43 PLN CTNNA3 CDH2 TAX1BP3 FLNC",0,0],[293925,"Lethal occipital encephalocele-skeletal dysplasia syndrome",1,3,[0],[0,1],5,1,13740,"CYP26B1",1,0],[293936,"EDICT syndrome",0,10,[1],[0,1,2],5,1,13678,"MIR184",1,0],[293939,"Distal Xq28 microduplication syndrome",1,3,[5],[0,1],5,0,17404,"",0,0],[293948,"1p21.3 microdeletion syndrome",1,3,[4],[8],5,1,17405,"DPYD",0,0],[293955,"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency",0,2,[0],[0,1],5,1,13761,"TPK1",1,0],[293958,"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome",1,3,[1],[0,1],5,0,13614,"",0,0],[293964,"Hypoinsulinemic hypoglycemia and body hemihypertrophy",0,15,[1],[0,1],5,1,9416,"AKT2",1,0],[293967,"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome",1,3,[0],[4,0,1],5,0,17406,"",0,0],[293978,"Deficiency in anterior pituitary function-variable immunodeficiency syndrome",0,15,[1],[2],5,1,17407,"NFKB2",0,0],[293987,"Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome",0,15,[4],[1,2],5,0,17408,"",0,0],[294016,"Microcephaly-capillary malformation syndrome",1,3,[0],[0,1],5,1,13659,"STAMBP",1,0],[294023,"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome",0,12,[0],[0,1],5,1,17411,"ADAM17",0,0],[294026,"Syndactyly-nystagmus syndrome due to 2q31.1 microduplication",1,3,[4],[0],5,0,13363,"",0,0],[294057,"Rare nevus",4,5,[],[],8,0,17414,"",0,0],[294060,"Multiple pterygium syndrome",3,3,[],[],8,0,17415,"",0,0],[294415,"Renal-hepatic-pancreatic dysplasia",1,3,[0],[4,0],8,2,17417,"NPHP3 NEK8",0,0],[294422,"Chronic intestinal failure",9,12,[2],[3],2,0,17418,"",0,0],[294925,"Non-syndromic amelia",3,3,[],[],8,0,17419,"",0,0],[294927,"Non-syndromic intercalary limb defects",3,3,[],[],8,0,17420,"",0,0],[294944,"Congenital deformities of limbs",4,3,[],[],8,0,17427,"",0,0],[294947,"Congenital deformities of fingers",4,3,[],[],8,0,17428,"",0,0],[294949,"Non-syndromic joint formation defects",4,3,[],[],8,0,17429,"",0,0],[294951,"Congenital joint dislocations",4,3,[],[],8,0,17430,"",0,0],[294953,"Non-syndromic limb overgrowth",4,3,[],[],8,0,17431,"",0,0],[294955,"Syndrome with limb reduction defects",4,3,[],[],8,0,17432,"",0,0],[294957,"Dysostosis with combined reduction defects of upper and lower limbs",4,3,[],[],8,0,17433,"",0,0],[294959,"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy",4,3,[],[],8,0,17434,"",0,0],[294963,"Popliteal pterygium syndrome",3,3,[1],[4,0],4,0,17435,"",1,0],[294965,"Lethal congenital contracture syndrome",3,3,[],[],8,0,17436,"",0,0],[294967,"Isolated amelia of upper limb",6,3,[],[],8,0,17437,"",0,0],[294969,"Isolated amelia of lower limb",6,3,[],[],8,0,17438,"",0,0],[294971,"Isolated tetra-amelia",6,3,[],[4],8,0,17439,"",0,0],[294973,"Isolated humeral agenesis/hypoplasia",6,3,[],[],8,0,17440,"",0,0],[294975,"Isolated absence of upper arm and forearm with hand present",6,3,[],[0,1],4,0,17441,"",0,0],[294977,"Isolated absence of thigh and lower leg with foot present",6,3,[],[],8,0,17442,"",0,0],[294979,"Isolated absence of both forearm and hand",6,3,[],[],8,0,17443,"",0,0],[294981,"Isolated absence of both lower leg and foot",6,3,[],[],8,0,17444,"",0,0],[294983,"Isolated acheiria",6,3,[],[],8,0,17445,"",0,0],[294986,"Isolated apodia",6,3,[],[],8,0,17446,"",0,0],[294988,"Isolated hypoplasia of thumb",6,3,[],[],8,0,17447,"",0,0],[295000,"Amniotic band syndrome",1,3,[],[4,0],3,0,15167,"",0,0],[295002,"Isolated hyperphalangy",6,3,[],[],8,0,17455,"",0,0],[295004,"Central polydactyly",6,3,[],[],8,0,17456,"",0,0],[295012,"Syndactyly type 6",6,3,[],[],8,0,17460,"",0,0],[295014,"Familial isolated clinodactyly of fingers",6,3,[],[],8,0,17461,"",0,0],[295016,"Camptodactyly of fingers",6,3,[],[],8,0,7250,"",0,0],[295018,"Congenital pseudoarthrosis of the tibia",2,3,[],[],8,0,17462,"",0,0],[295020,"Congenital pseudoarthrosis of the femur",2,3,[],[],8,0,17463,"",0,0],[295022,"Congenital pseudoarthrosis of the fibula",2,3,[],[],8,0,17464,"",0,0],[295024,"Congenital pseudoarthrosis of the radius",2,3,[],[],8,0,17465,"",0,0],[295026,"Congenital pseudoarthrosis of the ulna",2,3,[],[],8,0,17466,"",0,0],[295028,"Isolated tibio-fibular synostosis",6,3,[],[],8,0,17467,"",0,0],[295030,"True congenital shoulder dislocation",6,3,[],[],8,0,17468,"",0,0],[295032,"Isolated congenital radial head dislocation",6,3,[],[],8,0,17469,"",0,0],[295034,"Congenital knee dislocation",6,3,[],[],8,0,17470,"",0,0],[295036,"Congenital patella dislocation",6,3,[],[0,1],5,0,17471,"",0,0],[295044,"Macrodactyly of fingers",6,3,[],[0,1],3,0,17474,"",0,0],[295047,"Macrodactyly of toes",6,3,[],[0,1],3,0,17475,"",0,0],[295049,"Upper limb hypertrophy",6,3,[],[],8,0,17476,"",0,0],[295051,"Lower limb hypertrophy",6,3,[],[],8,0,17477,"",0,0],[295187,"Zygodactyly type 1",2,3,[],[],8,0,12351,"",0,0],[295189,"Zygodactyly type 2",2,3,[],[],8,0,17543,"",0,0],[295191,"Zygodactyly type 3",2,3,[1],[],8,1,17544,"HOXD13",0,0],[295193,"Zygodactyly type 4",2,3,[],[],8,0,17545,"",0,0],[295195,"Synpolydactyly type 1",2,3,[1],[],8,1,8513,"HOXD13",1,0],[295197,"Synpolydactyly type 2",2,3,[1],[],8,1,11984,"FBLN1",0,0],[295199,"Synpolydactyly type 3",2,3,[],[],8,0,12447,"",0,0],[295201,"Congenital vertical talus, unilateral",2,3,[1],[],8,1,17546,"HOXD10",0,0],[295203,"Congenital vertical talus, bilateral",2,3,[1],[],8,1,17547,"HOXD10",0,0],[295225,"Congenital elbow dislocation, unilateral",2,3,[],[],8,0,17558,"",0,0],[295227,"Congenital elbow dislocation, bilateral",2,3,[],[],8,0,17559,"",0,0],[295229,"Congenital genu recurvatum",2,3,[],[],8,0,17560,"",0,0],[295232,"Congenital genu flexum",2,3,[],[],8,0,17561,"",0,0],[295239,"Macrodactyly of fingers, unilateral",2,3,[1],[],8,1,17564,"PIK3CA",0,0],[295241,"Macrodactyly of fingers, bilateral",2,3,[],[],8,0,17565,"",0,0],[295243,"Macrodactyly of toes, unilateral",2,3,[1],[],8,1,17566,"PIK3CA",0,0],[295245,"Macrodactyly of toes, bilateral",2,3,[],[],8,0,17567,"",0,0],[298644,"Disorder of thiamine metabolism and transport",4,2,[1,0],[0,1],8,0,17578,"",0,0],[300179,"Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency",2,14,[0],[0,1],5,1,13800,"FKBP14",1,0],[300284,"Connective tissue disorder due to lysyl hydroxylase-3 deficiency",0,14,[2],[4,0],5,1,12892,"PLOD3",1,0],[300293,"Transient infantile hypertriglyceridemia and hepatosteatosis",0,17,[0],[0,1],5,2,13771,"GPD1 CREB3L3",1,0],[300298,"Severe congenital hypochromic anemia with ringed sideroblasts",0,4,[4],[0,1],5,1,14094,"STEAP3",1,0],[300305,"11p15.4 microduplication syndrome",1,3,[1],[0,1],5,0,17580,"",0,0],[300313,"Congenital cataract-hearing loss-severe developmental delay syndrome",0,2,[0],[0,1],5,1,13772,"SLC33A1",1,0],[300319,"Charcot-Marie-Tooth disease type 2P",0,1,[1,0],[5,6],5,1,13753,"LRSAM1",1,0],[300324,"Persistent polyclonal B-cell lymphocytosis",0,4,[3],[8],5,1,11672,"CARD11",0,0],[300333,"Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome",0,13,[0],[5],5,1,12190,"CD151",1,0],[300345,"Autosomal systemic lupus erythematosus",0,14,[1,0],[2],5,5,13743,"C4A C1QA DNASE1L3 DNASE1 C1R",1,0],[300359,"PLCG2-associated antibody deficiency and immune dysregulation",0,14,[1],[0,1],5,1,13766,"PLCG2",1,0],[300373,"X-linked acrogigantism",0,15,[7],[0,1,2],5,0,17581,"",0,0],[300382,"Progeroid and marfanoid aspect-lipodystrophy syndrome",0,14,[1],[0,1],5,1,14831,"FBN1",1,0],[300385,"Pituitary carcinoma",0,11,[4],[3],5,0,17582,"",0,0],[300493,"Sagliker syndrome",5,0,[3],[3],5,0,17584,"",0,0],[300496,"Multiple congenital anomalies-hypotonia-seizures syndrome type 2",1,3,[5],[4,0,1],5,1,10466,"PIGA",1,0],[300501,"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome",1,11,[4],[5],5,0,17585,"",0,0],[300504,"Onychocytic matricoma",0,11,[],[2,5,6,7],5,0,17586,"",0,0],[300512,"Onychomatricoma",0,11,[4],[3],5,0,17587,"",0,0],[300515,"Rare nail tumor",4,11,[],[],8,0,17588,"",0,0],[300525,"Pseudohypoaldosteronism type 2D",7,13,[1,0],[],5,1,13781,"KLHL3",1,0],[300530,"Pseudohypoaldosteronism type 2E",7,13,[1],[],5,1,13782,"CUL3",1,0],[300536,"DDOST-CDG",0,2,[0],[0,1],5,1,13789,"DDOST",1,0],[300547,"Autosomal recessive infantile hypercalcemia",0,15,[0],[0,1],5,2,212,"SLC34A1 CYP24A1",0,0],[300552,"Follicular cholangitis and pancreatitis",0,12,[4],[6],5,0,17589,"",0,0],[300557,"Carcinoma of the ampulla of Vater",0,11,[2],[6],4,0,17590,"",0,0],[300564,"Combined pulmonary fibrosis-emphysema syndrome",0,9,[2],[6],8,0,17591,"",0,0],[300570,"Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation",0,3,[1],[0,1],5,1,13541,"TUBB3",1,0],[300573,"Polymicrogyria due to TUBB2B mutation",1,3,[1],[0,1],5,1,12399,"TUBB2B",1,0],[300579,"Staphylococcal toxemia",4,8,[],[3],8,0,17592,"",0,0],[300605,"Juvenile amyotrophic lateral sclerosis",0,1,[1,0,3,7,5],[2],5,14,17593,"SORD SPTLC2 SYNE1 GNE ATP13A2 TRMT2B ERLIN1 ALS2 SPG11 SPTLC1 FUS SIGMAR1 TARDBP UBQLN2",0,0],[300751,"Familial dilated cardiomyopathy with conduction defect due to LMNA mutation",0,7,[1],[6],8,1,7269,"LMNA",1,0],[300755,"Laminopathy with striated muscle involvement",4,1,[],[],8,0,29810,"",0,0],[300758,"Laminopathy with peripheral neuropathy",4,1,[],[],8,0,29811,"",0,0],[300763,"Laminopathy with lipodystrophy",4,15,[],[],8,0,29812,"",0,0],[300766,"Laminopathy with premature aging",4,3,[],[],8,0,29813,"",0,0],[300842,"Indolent B-cell non-Hodgkin lymphoma",4,11,[],[6],8,0,17594,"",0,0],[300846,"Aggressive B-cell non-Hodgkin lymphoma",4,11,[],[6],8,0,17595,"",0,0],[300849,"Diffuse large B-cell lymphoma of the central nervous system",0,11,[3,2],[],8,0,17596,"",0,0],[300857,"T-cell/histiocyte rich large B cell lymphoma",0,11,[3,2],[2,5,6,7],5,0,17597,"",0,0],[300865,"Primary cutaneous anaplastic large cell lymphoma",0,11,[],[2,5,6],8,2,17598,"TYK2 NPM1",0,0],[300869,"Splenic diffuse red pulp small B-cell lymphoma",0,11,[],[],8,0,17599,"",0,0],[300878,"Hairy cell leukemia variant",0,11,[4],[6,7],4,1,17600,"IGHV4-34",0,0],[300888,"Diffuse large B-cell lymphoma with chronic inflammation",0,11,[],[],8,0,17601,"",0,0],[300895,"ALK-positive anaplastic large cell lymphoma",10,11,[2],[2,5,6],8,1,17602,"ALK",0,0],[300903,"ALK-negative anaplastic large cell lymphoma",10,11,[2],[6],8,0,17603,"",0,0],[300912,"Marginal zone lymphoma",3,11,[],[6],3,0,17604,"",0,0],[304055,"Pituitary tumor",4,11,[],[],8,0,17611,"",0,0],[306431,"Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies",0,16,[2],[6],8,0,17617,"",0,0],[306498,"PTEN hamartoma tumor syndrome",0,11,[1],[3],3,0,17623,"",1,0],[306504,"Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome",0,3,[0],[0,1],5,1,13881,"ITGA3",1,0],[306511,"Autosomal recessive spastic paraplegia type 48",0,1,[0],[6],5,1,13342,"AP5Z1",1,0],[306516,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis",0,13,[0],[1,2],7,0,17624,"",0,0],[306527,"Isolated hereditary congenital facial paralysis",6,25,[1,0],[0,1],5,0,11090,"",0,0],[306530,"Congenital hereditary facial paralysis-variable hearing loss syndrome",6,25,[0],[0,1],5,1,17627,"HOXB1",0,0],[306542,"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome",1,3,[0],[4,0],5,1,13271,"ALX1",1,0],[306547,"Porencephaly-microcephaly-bilateral congenital cataract syndrome",1,1,[0],[0,1],5,1,13394,"JAM3",1,0],[306550,"FADD-related immunodeficiency",0,16,[0],[0,1],5,1,13408,"FADD",1,0],[306553,"Myospherulosis",0,25,[2],[6],8,0,17628,"",0,0],[306558,"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome",0,15,[0],[0],5,2,31481,"IER3IP1 YIPF5",1,0],[306577,"Hereditary sodium channelopathy-related small fibers neuropathy",0,1,[1],[8],5,3,17629,"SCN9A SCN10A SCN11A",0,0],[306617,"X-linked complicated spastic paraplegia type 1",2,3,[5],[4,0,1],8,1,17630,"L1CAM",0,0],[306633,"Rare tumor of gallbladder and extrahepatic biliary tract",4,11,[],[],8,0,17631,"",0,0],[306636,"Rare tumor of liver and intrahepatic biliary tract",4,11,[],[],8,0,17632,"",0,0],[306640,"Rare intoxication due to medical products",4,27,[],[],8,0,17633,"",0,0],[306644,"Complication after organ transplantation",5,30,[2],[3],3,0,700220,"",0,0],[306648,"Non-infectious anterior uveitis",4,10,[],[],8,0,17634,"",0,0],[306658,"Familial normophosphatemic tumoral calcinosis",2,5,[0],[1],8,1,12502,"SAMD9",1,0],[306661,"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome",2,5,[0],[],8,3,100251,"FGF23 GALNT3 KL",1,0],[306666,"Rare parkinsonian syndrome due to neurodegenerative disease",4,1,[],[],8,0,17635,"",0,0],[306669,"Hemiparkinsonism-hemiatrophy syndrome",0,1,[],[5,6],5,0,17636,"",0,0],[306674,"Kufor-Rakeb syndrome",0,1,[0],[2,5],5,1,11706,"ATP13A2",1,0],[306679,"Rare parkinsonian syndrome due to intoxication",4,1,[],[],8,0,17637,"",0,0],[306682,"Manganese poisoning",0,1,[],[3],8,0,17638,"",0,0],[306686,"Delayed encephalopathy due to carbon monoxide poisoning",0,1,[],[3],8,0,17639,"",0,0],[306692,"Cyanide-induced parkinsonism-dystonia",0,1,[],[3],8,0,17640,"",0,0],[306695,"Miscellaneous movement disorder due to neurodegenerative disease",4,1,[],[],8,0,17641,"",0,0],[306708,"Frontotemporal neurodegeneration with movement disorder",4,1,[],[],8,0,17643,"",0,0],[306712,"Rare tremor disorder",4,1,[],[],8,0,17644,"",0,0],[306715,"Rare choreic movement disorder",4,1,[],[],8,0,17645,"",0,0],[306719,"Neurodegenerative disease with chorea",4,1,[],[],8,0,17646,"",0,0],[306727,"Postinfectious autoimmune disease with chorea",4,1,[],[],8,0,17647,"",0,0],[306731,"Sydenham chorea",5,1,[],[2,5,6],8,0,17648,"",0,0],[306734,"Primary dystonia, DYT21 type",0,1,[1],[6],5,1,13813,"DYT21",0,0],[306741,"Hemidystonia-hemiatrophy syndrome",0,1,[2],[0,1,2,5,6],5,0,17649,"",0,0],[306747,"Rare myoclonus",4,1,[],[],8,0,17650,"",0,0],[306750,"Primary myoclonus",4,1,[],[],8,0,17651,"",0,0],[306753,"Rare disease with myoclonus as a major feature",4,1,[],[],8,0,17652,"",0,0],[306756,"Epilepsy and/or ataxia with myoclonus as a major feature",4,1,[],[],8,0,17653,"",0,0],[306759,"Non progressive epilepsy and/or ataxia with myoclonus as a major feature",4,1,[],[],8,0,17654,"",0,0],[306765,"Motor stereotypies",4,1,[],[],8,0,17656,"",0,0],[306768,"Rare paroxysmal movement disorder",4,1,[],[],8,0,17657,"",0,0],[306773,"Hyperekplexia",3,1,[],[],8,0,17658,"",0,0],[306776,"Sporadic hyperekplexia",0,1,[],[],8,0,17659,"",0,0],[307052,"Rare genetic parkinsonian disorder",4,1,[],[],8,0,17660,"",0,0],[307055,"Rare parkinsonian syndrome due to genetic neurodegenerative disease",4,1,[],[],8,0,17661,"",0,0],[307058,"Miscellaneous movement disorder due to genetic neurodegenerative disease",4,1,[],[],8,0,17662,"",0,0],[307061,"Rare genetic tremor disorder",4,1,[],[],8,0,17663,"",0,0],[307064,"Rare genetic myoclonus",4,1,[],[],8,0,17663,"",0,0],[307067,"Rare genetic disease with myoclonus as a major feature",4,1,[],[],8,0,17665,"",0,0],[307141,"Diffuse palmoplantar keratoderma",4,5,[],[],8,0,17666,"",0,0],[307148,"Isolated diffuse palmoplantar keratoderma",3,5,[],[],8,0,17667,"",0,0],[307711,"Disease with diffuse palmoplantar keratoderma as a major feature",4,5,[],[],8,0,17669,"",0,0],[307766,"Curly hair-acral keratoderma-caries syndrome",0,3,[],[2,5],5,0,11883,"",0,0],[307773,"Autosomal dominant diffuse mutilating palmoplantar keratoderma",3,5,[1],[],8,0,17670,"",0,0],[307804,"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature",4,5,[0],[],8,0,17671,"",0,0],[307837,"Focal palmoplantar keratoderma",4,5,[],[],8,0,17672,"",0,0],[307846,"Isolated focal palmoplantar keratoderma",3,5,[],[],8,0,17673,"",0,0],[307871,"Disease with focal palmoplantar keratoderma as a major feature",4,5,[],[],8,0,17674,"",0,0],[307936,"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome",0,3,[],[0,1],5,0,11884,"",0,0],[307967,"Punctate palmoplantar keratoderma",4,5,[],[],8,0,17675,"",0,0],[307995,"Marginal papular palmoplantar keratoderma",3,5,[1],[],8,0,17676,"",0,0],[308013,"Focal acral hyperkeratosis",0,5,[],[],8,0,17677,"",0,0],[308023,"Disease with punctate palmoplantar keratoderma as a major feature",4,5,[],[],8,0,17678,"",0,0],[308031,"Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature",4,5,[1],[],8,0,17679,"",0,0],[308041,"Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature",4,5,[0],[],8,0,17680,"",0,0],[308166,"Erythrokeratoderma variabilis progressiva",3,5,[],[0,1,2],5,0,17681,"",1,0],[308380,"Methylcobalamin deficiency type cblDv1",2,2,[0],[],8,1,17683,"MMADHC",0,0],[308386,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A",7,2,[0],[],5,1,9643,"MOCS1",1,0],[308393,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B",7,2,[0],[],8,1,9644,"MOCS2",1,0],[308400,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",7,2,[0],[],8,1,14212,"GPHN",1,0],[308407,"Disorder of beta and omega amino acid metabolism",4,2,[],[],8,0,17684,"",0,0],[308410,"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency",0,2,[0],[2],5,1,13970,"BCKDK",1,0],[308425,"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency",0,2,[0],[1,2],5,1,9615,"MCEE",1,0],[308442,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2",2,2,[0],[],8,1,17685,"MMADHC",0,0],[308448,"Aminoacylase deficiency",3,2,[],[],8,0,17686,"",0,0],[308451,"Disorder of neutral amino acid transport",4,2,[],[],8,0,17687,"",0,0],[308459,"Disorder of glycolysis",4,2,[],[],8,0,17688,"",0,0],[308463,"Disorder of fructose metabolism",4,2,[],[],8,0,17689,"",0,0],[308467,"Disorder of galactose metabolism",4,2,[],[],8,0,17690,"",0,0],[308473,"Erythrocyte galactose epimerase deficiency",2,2,[0],[],8,1,17691,"GALE",0,0],[308487,"Generalized galactose epimerase deficiency",2,2,[0],[],8,1,17692,"GALE",0,0],[308520,"Glycogen storage disease due to glycogen synthase deficiency",3,2,[],[],8,0,17693,"",0,0],[308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",2,2,[0],[4,0,1],3,1,17694,"GAA",0,0],[308621,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",2,2,[0],[],8,1,17695,"GBE1",0,0],[308638,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form",2,2,[0],[],8,1,17696,"GBE1",0,0],[308655,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",2,2,[0],[],8,1,17697,"GBE1",0,0],[308670,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",2,2,[0],[],8,1,17698,"GBE1",0,0],[308684,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",2,2,[0],[],8,1,17699,"GBE1",0,0],[308698,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",2,2,[0],[],8,1,17700,"GBE1",0,0],[308712,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form",2,2,[0],[],8,1,17701,"GBE1",0,0],[308993,"Glycerol kinase deficiency",3,2,[],[],8,0,10613,"",1,0],[308998,"Disorder of glyoxylate metabolism",4,2,[],[],8,0,17703,"",0,0],[309001,"Disorder of carbohydrate absorption and transport",4,2,[],[],8,0,17706,"",0,0],[309005,"Disorder of lipid metabolism",4,2,[],[],8,0,2525,"",0,0],[309015,"Familial lipoprotein lipase deficiency",7,15,[1,0],[1,2],4,1,9387,"LPL",1,0],[309020,"Familial apolipoprotein C-II deficiency",7,15,[0],[2,5],5,1,8810,"APOC2",1,0],[309025,"Mevalonate kinase deficiency",0,2,[2],[1],5,0,17708,"",1,0],[309028,"Disorder of lipid absorption and transport",4,2,[],[],8,0,17709,"",0,0],[309031,"Pancreatic triacylglycerol lipase deficiency",0,2,[2],[1],6,0,13700,"",1,0],[309108,"Pancreatic colipase deficiency",0,2,[0],[1],5,0,17711,"",0,0],[309111,"Combined pancreatic lipase-colipase deficiency",0,2,[],[0],5,0,17712,"",0,0],[309115,"Disorder of fatty acid oxidation and ketogenesis",4,2,[],[],8,0,17713,"",0,0],[309120,"Acyl-CoA dehydrogenase deficiency",3,2,[],[],8,0,17714,"",0,0],[309127,"3-hydroxyacyl-CoA dehydrogenase deficiency",3,2,[],[],8,0,17715,"",1,0],[309130,"Disorder of carnitine cycle and carnitine transport",4,2,[],[],8,0,17716,"",0,0],[309133,"Metabolic disease due to other fatty acid oxidation disorder",4,2,[],[],8,0,17717,"",0,0],[309136,"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes",4,2,[],[],8,0,17718,"",0,0],[309144,"Gangliosidosis",4,2,[],[],8,0,17719,"",0,0],[309147,"Hyper-beta-alaninemia",0,2,[],[0],5,0,9378,"",0,0],[309152,"GM2 gangliosidosis",3,2,[],[],3,0,17720,"",0,0],[309155,"Sandhoff disease, infantile form",2,2,[0],[1],8,1,17721,"HEXB",0,0],[309162,"Sandhoff disease, juvenile form",2,2,[0],[2,5],8,1,17722,"HEXB",0,0],[309169,"Sandhoff disease, adult form",2,2,[0],[6],8,1,17723,"HEXB",0,0],[309178,"Tay-Sachs disease, infantile form",2,2,[0],[],8,1,17724,"HEXA",0,0],[309185,"Tay-Sachs disease, juvenile form",2,2,[0],[],8,1,17725,"HEXA",0,0],[309192,"Tay-Sachs disease, adult form",2,2,[0],[],8,1,17726,"HEXA",0,0],[309246,"GM2 gangliosidosis, AB variant",0,2,[0],[1],5,1,10099,"GM2A",1,0],[309252,"Atypical Gaucher disease due to saposin C deficiency",2,2,[0],[],8,1,12517,"PSAP",1,0],[309256,"Metachromatic leukodystrophy, late infantile form",2,1,[0],[1],8,2,17729,"PSAP ARSA",0,0],[309263,"Metachromatic leukodystrophy, juvenile form",2,1,[0],[2,5],8,2,9591,"PSAP ARSA",1,0],[309271,"Metachromatic leukodystrophy, adult form",2,1,[0],[6],8,2,17730,"PSAP ARSA",0,0],[309279,"Glycoproteinosis",4,2,[],[],8,0,17731,"",0,0],[309282,"Alpha-mannosidosis, infantile form",2,2,[0],[1],8,1,17732,"MAN2B1",0,0],[309288,"Alpha-mannosidosis, adult form",2,2,[0],[6],8,1,17733,"MAN2B1",0,0],[309294,"Sialidosis",3,2,[0],[3],5,0,17734,"",1,0],[309297,"Mucopolysaccharidosis type 4A",2,2,[0],[2],2,1,9659,"GALNS",1,0],[309310,"Mucopolysaccharidosis type 4B",2,2,[0],[],5,1,9660,"GLB1",1,0],[309319,"Disorder of sialic acid metabolism",4,2,[],[],8,0,17736,"",0,0],[309324,"Free sialic acid storage disease, infantile form",2,2,[0],[4,0],5,1,10027,"SLC17A5",1,0],[309331,"Intermediate severe Salla disease",2,2,[0],[],8,1,17737,"SLC17A5",0,0],[309334,"Salla disease",2,2,[0],[1],5,1,11449,"SLC17A5",1,0],[309337,"Lysosomal glycogen storage disease",4,2,[],[],8,0,17738,"",0,0],[309340,"Disorder of lysosomal-related organelles",4,2,[],[],8,0,17739,"",0,0],[309347,"Disorder of protein N-glycosylation",4,2,[],[],8,0,17740,"",1,0],[309447,"Disorder of protein O-glycosylation",4,2,[],[],8,0,17741,"",0,0],[309450,"Disorder of O-xylosylglycan synthesis",4,2,[],[],8,0,17742,"",0,0],[309458,"Disorder of O-N-acetylgalactosaminylglycan synthesis",4,2,[],[],8,0,17743,"",0,0],[309463,"Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis",4,2,[],[],8,0,17744,"",0,0],[309469,"Disorder of O-mannosylglycan synthesis",4,2,[],[],8,0,17745,"",0,0],[309505,"Disorder of fucoglycosan synthesis",4,2,[],[],8,0,17747,"",0,0],[309515,"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation",4,2,[],[],8,0,17748,"",0,0],[309526,"Disorder of multiple glycosylation",4,2,[],[],8,0,17749,"",0,0],[309568,"Defect in conserved oligomeric Golgi complex",4,2,[],[],8,0,17750,"",0,0],[309778,"Defect in V-ATPase",4,2,[],[],8,0,17752,"",0,0],[309789,"Rhizomelic chondrodysplasia punctata type 1",7,0,[0],[],8,1,8972,"PEX7",1,0],[309796,"Rhizomelic chondrodysplasia punctata type 2",7,0,[0],[],8,1,9112,"GNPAT",1,0],[309803,"Rhizomelic chondrodysplasia punctata type 3",7,0,[0],[],8,1,10823,"AGPS",1,0],[309810,"Disorder of peroxisomal alpha-, beta- and omega-oxidation",4,2,[],[],8,0,17753,"",0,0],[309813,"Disorder of porphyrin and heme metabolism",4,2,[],[],8,0,17754,"",0,0],[309816,"Disorder of bilirubin metabolism and excretion",4,2,[],[],8,0,17755,"",0,0],[309819,"Disorder of pterin metabolism",4,2,[],[],8,0,17756,"",0,0],[309824,"Disorder of metabolite absorption and transport",4,2,[],[],8,0,17757,"",0,0],[309827,"Disorder of vitamin and non-protein cofactor absorption and transport",4,2,[],[],8,0,17758,"",0,0],[309830,"Disorder of catecholamine synthesis",4,2,[],[],8,0,17759,"",0,0],[309833,"Disorder of other vitamins and cofactors metabolism and transport",4,2,[],[],8,0,17760,"",0,0],[309836,"Disorder of mineral absorption and transport",4,2,[],[],8,0,17761,"",0,0],[309839,"Disorder of copper metabolism",4,2,[],[],8,0,17762,"",0,0],[309842,"Disorder of iron metabolism and transport",4,2,[],[],8,0,17763,"",0,0],[309845,"Disorder of zinc metabolism and transport",4,2,[],[],8,0,17764,"",0,0],[309848,"Disorder of magnesium transport",4,2,[],[],8,0,17765,"",0,0],[309851,"Disorder of manganese transport",4,2,[],[],8,0,17766,"",0,0],[309854,"Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome",0,2,[0],[2],5,1,13208,"SLC30A10",1,0],[310050,"Rare acquired immunodeficiency",4,16,[],[],8,0,17769,"",0,0],[313772,"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome",0,1,[0],[2],5,1,13776,"AFG3L2",1,0],[313781,"20p13 microdeletion syndrome",1,3,[1,2],[0,1],5,0,17780,"",0,0],[313795,"Jawad syndrome",1,3,[0],[0,1],5,1,9622,"RBBP8",1,0],[313800,"ROSAH syndrome",0,10,[1],[2],5,1,13999,"ALPK1",1,0],[313808,"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia",0,1,[1],[6],5,2,800027,"AARS2 CSF1R",1,0],[313838,"Coats plus syndrome",0,1,[0],[2],8,2,12815,"CTC1 STN1",0,0],[313846,"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome",0,5,[1],[0,1],5,1,13806,"ATR",1,0],[313850,"Infantile cerebellar-retinal degeneration",0,1,[0],[0,1],5,1,13802,"ACO2",1,0],[313855,"FGFR2-related bent bone dysplasia",0,0,[1],[4,0],5,1,13815,"FGFR2",1,0],[313884,"12p12.1 microdeletion syndrome",2,3,[1,2],[0,1],5,1,17781,"SOX5",0,0],[313892,"Developmental and speech delay due to SOX5 deficiency",2,3,[1,2],[0,1],5,1,17782,"SOX5",0,0],[313906,"Congenital pancreatic cyst",6,12,[4],[0,1],5,0,17783,"",0,0],[313920,"Epstein-Barr virus-associated gastric carcinoma",0,11,[3],[6,7],8,0,17784,"",0,0],[313936,"PENS syndrome",0,5,[2],[0,1],5,0,17785,"",0,0],[313947,"2q23.1 microduplication syndrome",1,3,[2,4],[0,1],5,0,17786,"",0,0],[314002,"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome",1,3,[11],[0,1],5,0,17788,"",0,0],[314017,"Idiopathic linear interstitial keratitis",0,10,[4],[6],8,0,17789,"",0,0],[314022,"Gastric adenocarcinoma and proximal polyposis of the stomach",0,11,[1],[6],5,1,17790,"APC",1,0],[314029,"High bone mass osteogenesis imperfecta",0,0,[1],[2],5,3,17791,"COL1A1 COL1A2 BMP1",0,0],[314034,"7p22.1 microduplication syndrome",1,3,[0],[0,1],5,0,17792,"",0,0],[314041,"Marfanoid habitus-inguinal hernia-advanced bone age syndrome",1,3,[],[4,0,1],5,0,17793,"",0,0],[314051,"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome",0,1,[11],[0,1],5,1,13971,"EARS2",1,0],[314373,"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity",0,12,[1],[0,1],5,1,13825,"GUCY2C",1,0],[314376,"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency",0,12,[0],[0],5,1,13843,"GUCY2C",1,0],[314381,"Hereditary sensory and autonomic neuropathy type 6",0,1,[0],[0,1],5,1,13839,"DST",1,0],[314389,"Xq12-q13.3 duplication syndrome",1,1,[5],[0,1],5,0,17794,"",0,0],[314394,"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome",0,0,[0],[0,1],5,1,13894,"POC1A",1,0],[314399,"Autosomal dominant aplasia and myelodysplasia",0,4,[1],[2],5,1,13851,"SRP72",1,0],[314404,"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome",0,1,[1,2],[6],5,1,11397,"DNMT1",1,0],[314419,"Ameloblastoma",0,11,[2],[3],8,0,17795,"",0,0],[314422,"Ameloblastic carcinoma",0,11,[2],[3],5,0,6079,"",0,0],[314425,"Rare odontogenic tumor",4,6,[],[],8,0,17797,"",0,0],[314432,"Spigelian hernia-cryptorchidism syndrome",1,3,[2],[0,1],5,0,17798,"",0,0],[314451,"Meigs syndrome",9,11,[2],[6],8,0,17799,"",0,0],[314459,"Pseudo-Meigs syndrome",9,11,[2],[6],8,0,17800,"",0,0],[314466,"Atypical Meigs syndrome",9,11,[2],[6],5,0,17801,"",0,0],[314473,"Ovarian fibroma",0,11,[2],[6],8,0,8168,"",0,0],[314478,"Ovarian fibrothecoma",0,11,[2],[6],8,0,17802,"",0,0],[314485,"Young adult-onset distal hereditary motor neuropathy",0,1,[0],[6],5,2,13947,"DNAJB2 VWA1",1,0],[314555,"Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome",1,3,[0],[0,1],5,1,12634,"IRX5",1,0],[314566,"Primary progressive apraxia of speech",0,1,[4],[6],5,0,17803,"",0,0],[314572,"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome",0,1,[0],[0,1],5,0,17804,"",0,0],[314575,"Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome",1,3,[0],[0,1],5,0,17805,"",0,0],[314585,"15q overgrowth syndrome",1,3,[2,4],[4,0,1],5,0,17806,"",0,0],[314588,"Distal triplication 15q syndrome",7,3,[2,4],[0,1],5,0,13918,"",0,0],[314597,"Chudley-McCullough syndrome",1,3,[0],[0,1],5,1,11411,"GPSM2",1,0],[314603,"Autosomal recessive spastic ataxia with leukoencephalopathy",0,1,[0],[2,5,6],5,1,12664,"MARS2",1,0],[314613,"Growing teratoma syndrome",5,11,[2],[6],8,0,17807,"",0,0],[314621,"Duplication of the pituitary gland",6,3,[2],[0,1],5,0,17808,"",0,0],[314629,"CLN11 disease",0,1,[],[1,5],5,1,13866,"GRN",1,0],[314632,"CLN12 disease",0,1,[0],[2],5,1,17809,"ATP13A2",0,0],[314637,"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",0,2,[4],[0,1],5,1,13865,"MTO1",1,0],[314647,"Non-progressive cerebellar ataxia with intellectual disability",0,1,[1],[0,1],5,2,13886,"CAMTA1 POU4F1",1,0],[314652,"Variant ABeta2M amyloidosis",0,14,[1],[6],5,1,17810,"B2M",1,0],[314655,"Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion",7,1,[4],[0,1],5,1,17811,"PURA",0,0],[314662,"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia",0,3,[2],[4,0],5,1,17812,"PIK3CA",0,0],[314667,"TMEM165-CDG",0,2,[0],[0,1],5,1,13870,"TMEM165",1,0],[314679,"Cerebrofacioarticular syndrome",1,3,[0],[0,1],5,2,17813,"DCHS1 FAT4",1,0],[314684,"Primary bone lymphoma",0,11,[],[3],8,0,17814,"",0,0],[314689,"Combined immunodeficiency due to STK4 deficiency",0,16,[0],[2],5,1,13934,"STK4",2,0],[314697,"Acquired porencephaly",7,3,[],[],8,0,17815,"",0,0],[314701,"Primary systemic amyloidosis",2,14,[2],[],2,0,17816,"",0,0],[314709,"Primary localized amyloidosis",2,14,[2],[],8,0,17817,"",0,0],[314718,"Lethal arteriopathy syndrome due to fibulin-4 deficiency",0,23,[0],[0,1],5,1,17818,"EFEMP2",0,0],[314721,"Atypical dentin dysplasia due to SMOC2 deficiency",2,6,[0],[0,1],5,1,17819,"SMOC2",1,0],[314749,"Rare disease with adrenal Cushing syndrome as a major feature",4,15,[],[],8,0,17820,"",0,0],[314753,"Functioning pituitary adenoma",3,15,[],[],8,0,3429,"",0,0],[314759,"Mixed functioning pituitary adenoma",4,15,[],[],8,0,17822,"",0,0],[314769,"Somatomammotropinoma",0,15,[],[5,6],6,0,17823,"",0,0],[314777,"Familial isolated pituitary adenoma",0,15,[1],[1,2,5,6,7],6,2,17824,"CDH23 AIP",0,0],[314786,"Silent pituitary adenoma",10,15,[2],[],8,2,17825,"MEN1 AIP",0,0],[314790,"Null pituitary adenoma",10,15,[2],[],8,2,17826,"MEN1 AIP",0,0],[314795,"SHOX-related short stature",0,0,[1],[0,1],8,1,10367,"SHOX",0,0],[314802,"Short stature due to partial GHR deficiency",0,15,[4],[2],8,1,11420,"GHR",1,0],[314811,"Short stature due to GHSR deficiency",0,15,[1,0],[0,1],5,1,14403,"GHSR",1,0],[314822,"Primary renal tubular acidosis",3,13,[],[],8,0,17828,"",0,0],[314889,"Autosomal dominant proximal renal tubular acidosis",2,13,[1],[2],5,0,17829,"",0,0],[314911,"Severe Canavan disease",2,1,[0],[0,1],8,1,17830,"ASPA",0,0],[314918,"Mild Canavan disease",2,1,[0],[2],5,1,17831,"ASPA",0,0],[314950,"Primary hypereosinophilic syndrome",0,4,[],[3],8,5,17833,"FGFR1 FIP1L1 PDGFRA PDGFRB ETV6",0,0],[314962,"Secondary hypereosinophilic syndrome",0,4,[],[3],8,0,17834,"",0,0],[314970,"Lymphocytic hypereosinophilic syndrome",2,4,[],[3],8,0,17835,"",0,0],[314978,"X-linked non progressive cerebellar ataxia",0,1,[5],[0,1],5,1,10404,"ATP2B3",0,0],[314993,"Cataract-congenital heart disease-neural tube defect syndrome",1,1,[],[0,1],5,0,11995,"",0,0],[315306,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",2,3,[0],[0,1],3,1,17839,"CYP21A2",0,0],[315311,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",2,3,[0],[0,1],3,1,17840,"CYP21A2",0,0],[315350,"Autoimmune disease with skin involvement",4,5,[],[],8,0,17841,"",0,0],[316226,"Spastic ataxia",3,1,[],[],8,0,17845,"",0,0],[316235,"Autosomal dominant spastic ataxia",4,1,[1],[],8,0,17846,"",0,0],[316240,"Autosomal recessive spastic ataxia",4,1,[0],[],8,0,17847,"",0,0],[316244,"Partial deletion of the short arm of chromosome 12 syndrome",4,3,[],[],8,0,22174,"",0,0],[317416,"T-B+ severe combined immunodeficiency",3,16,[],[],8,0,44200,"",0,0],[317419,"T-B- severe combined immunodeficiency",3,16,[],[],8,0,17855,"",0,0],[317425,"T-B-NK+ severe combined immunodeficiency due to DNA-PKcs deficiency",0,16,[0],[0,1],5,1,14423,"PRKDC",1,0],[317428,"Combined immunodeficiency due to ORAI1 deficiency",2,16,[0],[0,1],5,1,13007,"ORAI1",1,0],[317430,"Combined immunodeficiency due to STIM1 deficiency",2,16,[0],[0,1],8,1,13008,"STIM1",1,0],[317473,"Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency",0,16,[1],[0,1,2,5,6],5,1,14810,"IKZF1",1,0],[317476,"XMEN",0,16,[5],[2,5,6],5,1,10455,"MAGT1",1,0],[319160,"Congenital myopathy with internal nuclei and atypical cores",0,1,[1],[0],5,1,13890,"CCDC78",0,0],[319171,"Distal 17p13.1 microdeletion syndrome",1,3,[2],[0,1],5,0,17867,"",0,0],[319182,"Wiedemann-Steiner syndrome",1,3,[1],[0,1,2],5,1,11518,"KMT2A",1,0],[319189,"Familial cortical myoclonus",0,1,[1],[6],5,1,13981,"NOL3",0,0],[319192,"Diencephalic-mesencephalic junction dysplasia",6,1,[0],[4,0],5,2,17868,"PCDH12 GSX2",0,0],[319195,"Chondroectodermal dysplasia with night blindness",0,3,[],[0,1],5,0,17869,"",0,0],[319199,"Autosomal recessive spastic paraplegia type 53",0,1,[0],[1],5,1,13962,"VPS37A",1,0],[319205,"Bilateral massive adrenal hemorrhage",7,15,[],[],8,0,17871,"",0,0],[319213,"Lujo hemorrhagic fever",0,8,[],[3],5,0,17872,"",0,0],[319218,"Ebola hemorrhagic fever",0,8,[2],[3],5,0,5737,"",0,0],[319223,"Argentine hemorrhagic fever",0,8,[],[3],8,0,17874,"",0,0],[319229,"Bolivian hemorrhagic fever",0,8,[],[3],8,0,17875,"",0,0],[319234,"Venezuelan hemorrhagic fever",0,8,[],[3],8,0,17876,"",0,0],[319239,"Brazilian hemorrhagic fever",0,8,[],[3],8,0,17877,"",0,0],[319244,"Chapare hemorrhagic fever",0,8,[],[3],8,0,17878,"",0,0],[319247,"Hantavirus pulmonary syndrome",0,8,[],[],8,0,17879,"",0,0],[319251,"Rift valley fever",0,8,[],[3],5,0,17880,"",0,0],[319254,"Kyasanur forest disease",0,8,[],[3],8,0,17881,"",0,0],[319266,"Omsk hemorrhagic fever",0,8,[],[3],8,0,17882,"",0,0],[319276,"Clear cell renal carcinoma",0,11,[2],[6,7],3,0,5005,"",0,0],[319287,"Multilocular cystic renal neoplasm of low malignant potential",10,11,[],[],8,0,3010,"",0,0],[319298,"Papillary renal cell carcinoma",0,11,[2],[6,7],4,2,17884,"MET MITF",1,0],[319303,"Chromophobe renal cell carcinoma",0,11,[],[6,7],5,1,17885,"HNF1A",0,0],[319308,"MiT family translocation renal cell carcinoma",0,11,[],[1,2,5,6,7],8,7,17886,"PRCC TFE3 ASPSCR1 TFEB CLTC SFPQ NONO",0,0],[319319,"Renal medullary carcinoma",0,11,[],[6],5,0,6260,"",0,0],[319322,"Mucinous tubular and spindle cell renal carcinoma",0,11,[],[5,6,7],8,0,3011,"",0,0],[319325,"Tubulocystic renal cell carcinoma",0,11,[],[6,7],8,0,17890,"",0,0],[319328,"Inherited renal cancer-predisposing syndrome",4,13,[],[],8,0,17891,"",0,0],[319332,"Autosomal recessive myogenic arthrogryposis multiplex congenita",0,1,[0],[0],5,1,17892,"SYNE1",0,0],[319340,"Carney complex-trismus-pseudocamptodactyly syndrome",0,3,[2],[0],5,1,12137,"MYH8",0,0],[319462,"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations",0,11,[0],[],8,1,11584,"BRCA2",1,0],[319465,"Inherited acute myeloid leukemia",0,11,[1],[],8,3,17893,"CEBPA TGM6 ERCC6L2",0,0],[319480,"Acute myeloid leukemia with CEBPA somatic mutations",0,11,[2],[],8,1,17894,"CEBPA",0,0],[319487,"Familial papillary or follicular thyroid carcinoma",0,11,[2],[6],8,3,17895,"FOXE1 HABP2 MINPP1",0,0],[319494,"Familial nonmedullary thyroid carcinoma",3,11,[],[],8,0,17896,"",0,0],[319504,"Combined oxidative phosphorylation defect type 8",0,2,[0],[0,1],5,1,13570,"AARS2",1,0],[319509,"Combined oxidative phosphorylation defect type 9",0,2,[0],[1],5,1,13811,"MRPL3",1,0],[319514,"Combined oxidative phosphorylation defect type 13",0,2,[0],[1],5,1,13977,"PNPT1",1,0],[319519,"Combined oxidative phosphorylation defect type 14",0,2,[0],[0,1],5,1,13986,"FARS2",1,0],[319524,"Combined oxidative phosphorylation defect type 15",0,2,[0],[1,2],5,1,13987,"MTFMT",1,0],[319535,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency",4,16,[0],[3],8,0,17897,"",0,0],[319539,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency",4,16,[0],[3],8,0,17898,"",0,0],[319543,"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency",4,16,[1],[],8,0,17899,"",0,0],[319547,"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency",0,16,[0],[0,1],5,1,17900,"IFNGR2",0,0],[319552,"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency",0,16,[0],[2],5,1,13955,"IL12RB1",1,0],[319558,"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency",0,16,[0],[0,1],5,1,13954,"IL12B",1,0],[319563,"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency",0,16,[0],[2],5,1,14502,"ISG15",1,0],[319569,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",0,16,[0],[1],5,1,17901,"IFNGR1",0,0],[319574,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency",0,16,[0],[1],5,1,17902,"IFNGR2",0,0],[319581,"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",0,16,[1],[5],5,1,14429,"IFNGR1",1,0],[319589,"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency",0,16,[1],[1],5,1,17903,"IFNGR2",0,0],[319595,"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency",0,16,[1],[2],5,1,13956,"STAT1",1,0],[319600,"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",0,16,[1],[0,1],5,1,13957,"IRF8",1,0],[319605,"X-linked mendelian susceptibility to mycobacterial diseases",0,16,[5],[1,2,5],5,1,17905,"CYBB",0,0],[319635,"Amyloidosis cutis dyschromia",0,5,[0],[2],5,1,17906,"GPNMB",0,0],[319640,"Retinal macular dystrophy type 2",0,10,[1],[5,6],5,1,11957,"PROM1",1,0],[319646,"PGM1-CDG",0,2,[0],[0,1],5,1,13968,"PGM1",1,0],[319651,"Constitutional megaloblastic anemia with severe neurologic disease",0,4,[0],[1,2],5,1,13456,"DHFR",1,0],[319667,"Primary lymphoma of the conjunctiva",0,10,[],[],8,0,17907,"",0,0],[319671,"Alazami syndrome",1,0,[0],[4,0],5,1,14031,"LARP7",1,0],[319675,"Microcephalic primordial dwarfism, Dauber type",1,0,[0],[4,0],5,1,13922,"NIN",0,0],[319678,"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome",0,2,[0],[0],5,2,13840,"COQ9 COQ7",1,0],[319719,"Autoinflammatory syndrome of childhood",4,14,[],[],8,0,957018,"",1,0],[320332,"X-linked pure spastic paraplegia",3,1,[],[],8,0,17912,"",0,0],[320335,"Pure or complex hereditary spastic paraplegia",3,1,[],[],8,0,17913,"",0,0],[320342,"Pure or complex autosomal dominant spastic paraplegia",3,1,[1],[],8,0,17914,"",0,0],[320346,"Pure or complex autosomal recessive spastic paraplegia",3,1,[0],[],8,0,17915,"",0,0],[320350,"Pure or complex X-linked spastic paraplegia",3,1,[],[],8,0,17916,"",0,0],[320355,"Autosomal dominant spastic paraplegia type 41",0,1,[1],[5,6],5,1,13239,"SPG41",0,0],[320360,"MT-ATP6-related mitochondrial spastic paraplegia",0,1,[6],[6],5,1,17917,"MT-ATP6",0,0],[320365,"Autosomal dominant spastic paraplegia type 36",0,1,[1],[5,6],5,1,13132,"SPG36",0,0],[320370,"Autosomal recessive spastic paraplegia type 43",0,1,[0],[2,5],5,1,14024,"C19ORF12",0,0],[320375,"Autosomal recessive spastic paraplegia type 55",0,1,[0],[2],5,1,14020,"MTRFR",0,0],[320380,"Autosomal recessive spastic paraplegia type 54",0,1,[0],[1,2],5,1,14018,"DDHD2",1,0],[320385,"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation",0,1,[0],[1],5,1,14016,"TECPR2",1,0],[320391,"Autosomal recessive spastic paraplegia type 46",0,1,[0],[1,2],5,1,13737,"GBA2",1,0],[320396,"Autosomal recessive spastic paraplegia type 45",0,1,[0],[1],5,1,13165,"NT5C2",1,0],[320401,"Autosomal recessive spastic paraplegia type 44",0,1,[0],[5,6],5,1,13179,"GJC2",1,0],[320406,"Spastic paraplegia-optic atrophy-neuropathy syndrome",0,1,[0],[1,2],5,2,12297,"FLRT1 KLC2",1,0],[320411,"Autosomal recessive spastic paraplegia type 56",0,1,[0],[0,1,2],5,1,14015,"CYP2U1",1,0],[322126,"Genetic tumor of hematopoietic and lymphoid tissues",4,11,[],[],8,0,30767,"",0,0],[324262,"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency",2,1,[0],[0,1],5,1,13905,"GRM1",1,0],[324290,"PRDM8-related progressive myoclonus epilepsy",0,1,[0],[2],5,1,14717,"PRDM8",1,0],[324294,"T-cell immunodeficiency with epidermodysplasia verruciformis",0,16,[0],[2],5,1,17925,"RHOH",0,0],[324299,"EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome",0,15,[2],[2],5,1,17926,"EPAS1",0,0],[324307,"Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome",1,0,[4],[2],5,0,17927,"",0,0],[324313,"9p13 microdeletion syndrome",1,3,[2,4],[0,1],5,0,17928,"",0,0],[324321,"Sinoatrial node dysfunction and deafness",0,18,[0],[0,1],5,1,13960,"CACNA1D",1,0],[324353,"Congenital achiasma",6,1,[],[0,1],8,0,17929,"",0,0],[324364,"Mixed sclerosing bone dystrophy with extra-skeletal manifestations",0,0,[],[0],5,0,17930,"",0,0],[324381,"Hereditary inclusion body myopathy type 4",0,1,[1],[6],5,0,17931,"",0,0],[324410,"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome",0,3,[5],[0,1],5,1,10473,"CLIC2",1,0],[324416,"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome",1,3,[1],[0,1],5,0,17932,"",0,0],[324422,"ALG13-CDG",0,2,[5],[0,1],5,1,10472,"ALG13",1,0],[324442,"Autosomal recessive axonal neuropathy with neuromyotonia",0,1,[0],[2],5,1,7646,"HINT1",1,0],[324525,"Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation",0,2,[11],[0,1],5,1,17933,"MT-TL1",0,0],[324530,"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation",0,16,[1],[0,1],5,1,13944,"PLCG2",1,0],[324535,"Combined oxidative phosphorylation defect type 11",0,2,[0],[0,1],5,1,13969,"RMND1",1,0],[324540,"Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome",1,3,[0],[0,1],5,0,17934,"",0,0],[324561,"Hypopigmentation-punctate palmoplantar keratoderma syndrome",0,5,[1],[0,1],5,1,14227,"ENPP1",1,0],[324569,"Pontocerebellar hypoplasia type 8",2,3,[0],[0,1],5,1,13990,"CHMP1A",1,0],[324575,"Hyperinsulinism due to HNF1A deficiency",0,2,[1],[0,1],5,1,17935,"HNF1A",0,0],[324581,"Benign Samaritan congenital myopathy",0,1,[0],[0,1],5,1,17936,"RYR1",0,0],[324585,"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain",0,1,[1],[3],5,1,17937,"MPZ",0,0],[324588,"Familial dyskinesia and facial myokymia",0,1,[1,0],[2],5,1,800028,"ADCY5",1,0],[324601,"X-linked cleft palate and ankyloglossia",1,3,[7,5],[0,1],8,1,10560,"TBX22",1,0],[324604,"Classic multiminicore myopathy",2,1,[0],[0,1],8,3,17939,"SELENON TTN MYH7",0,0],[324611,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation",0,1,[1],[1,2,5,6,7],8,1,17940,"KIF5A",0,0],[324625,"Chikungunya",0,8,[2],[3],4,0,17941,"",0,0],[324632,"Hendra virus infection",0,8,[2],[3],5,0,17942,"",0,0],[324636,"Autoerythrocyte sensitization syndrome",0,16,[4],[6],5,0,17943,"",0,0],[324648,"Invasive non-typhoidal salmonellosis",0,8,[2],[3],8,0,17944,"",0,0],[324703,"ABetaL34V amyloidosis",2,1,[1],[6,7],5,1,17945,"APP",0,0],[324708,"ABeta amyloidosis, Iowa type",2,1,[1],[7],5,1,17946,"APP",0,0],[324713,"ABeta amyloidosis, Italian type",2,1,[1],[6,7],5,1,17947,"APP",0,0],[324718,"ABetaA21G amyloidosis",2,1,[1],[6],5,1,17948,"APP",0,0],[324723,"ABeta amyloidosis, Arctic type",2,1,[1],[6,7],5,1,17949,"APP",0,0],[324737,"SRD5A3-CDG",0,2,[0],[0,1],5,1,12885,"SRD5A3",1,0],[324761,"Microcephalic primordial dwarfism",3,3,[],[],8,0,17950,"",0,0],[324764,"Trichorhinophalangeal syndrome",3,3,[],[],8,0,17951,"",0,0],[324767,"Non-familial rare disease with dilated cardiomyopathy",4,7,[],[],8,0,17952,"",0,0],[324924,"Hereditary periodic fever syndrome",4,14,[],[],8,0,17953,"",0,0],[324927,"Pyogenic autoinflammatory syndrome",4,14,[],[],8,0,17954,"",0,0],[324930,"Granulomatous autoinflammatory syndrome",4,14,[],[],8,0,17955,"",0,0],[324933,"Mixed autoinflammatory and autoimmune syndrome",4,14,[],[],8,0,17956,"",0,0],[324936,"Unclassified autoinflammatory syndrome",4,14,[],[4,0,1],8,0,17957,"",0,0],[324939,"Periodic fever syndrome of childhood",4,14,[],[],8,0,957403,"",0,0],[324942,"Pyogenic autoinflammatory syndrome of childhood",4,14,[],[],8,0,957404,"",0,0],[324950,"Granulomatous autoinflammatory syndrome of childhood",4,14,[],[],8,0,957405,"",0,0],[324953,"Unclassified autoinflammatory syndrome of childhood",4,14,[],[],8,0,0,"",0,0],[324960,"Unexplained periodic fever syndrome of childhood",4,14,[],[],8,0,0,"",0,0],[324964,"Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis",0,14,[2],[2,5],4,0,9813,"",0,0],[324972,"MAGIC syndrome",0,14,[2],[2,5,6],5,0,17958,"",0,0],[324977,"Proteasome-associated autoinflammatory syndrome",0,14,[0],[0,1,2],5,1,9726,"PSMB8",1,0],[325055,"46,XX disorder of gonadal development",4,3,[],[],8,0,17961,"",0,0],[325061,"46,XX difference of sex development induced by fetoplacental androgens excess",4,3,[],[],8,0,17962,"",0,0],[325093,"46,XX difference of sex development induced by endogenous maternal-derived androgen",3,3,[],[],8,0,17963,"",0,0],[325099,"46,XX difference of sex development induced by exogenous maternal-derived androgen",3,3,[],[],8,0,17964,"",0,0],[325109,"Syndrome with 46,XX difference of sex development",4,3,[],[],8,0,17965,"",0,0],[325118,"46,XY disorder of gonadal development",4,3,[],[],8,0,17966,"",0,0],[325124,"Testicular agenesis",6,3,[],[0],3,0,17967,"",0,0],[325345,"46,XY ovotesticular difference of sex development",0,3,[],[4,0],3,0,17968,"",0,0],[325351,"46,XY difference of sex development of endocrine origin",4,3,[],[],8,0,17969,"",0,0],[325357,"46,XY difference of sex development due to impaired androgen production",4,3,[],[],8,0,17970,"",0,0],[325448,"Leydig cell hypoplasia due to LHB deficiency",2,3,[0],[],8,1,9223,"LHB",1,0],[325511,"46,XY difference of sex development due to a cholesterol synthesis defect",4,3,[],[],8,0,17971,"",0,0],[325524,"Classic congenital lipoid adrenal hyperplasia due to STAR deficency",2,3,[0],[],8,1,17972,"STAR",0,0],[325529,"Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency",2,3,[0],[],8,1,17973,"STAR",0,0],[325537,"46,XY difference of sex development induced by maternal exposure to endocrine disruptors",4,3,[],[],8,0,17974,"",0,0],[325546,"Sex chromosome difference of sex development",4,3,[],[],8,0,17975,"",0,0],[325620,"Difference of sex development of gynecological interest",4,3,[],[],8,0,17976,"",0,0],[325632,"46,XY difference of sex development of gynecological interest",4,3,[],[],8,0,17977,"",0,0],[325638,"Syndrome with difference of sex development of gynecological interest",4,3,[],[],8,0,17978,"",0,0],[325665,"Genetic difference of sex development of gynecological interest",4,3,[],[],8,0,31004,"",0,0],[325690,"Genetic difference of sex development",4,3,[],[],8,0,31016,"",0,0],[325697,"Genetic 46,XX difference of sex development",4,3,[],[],8,0,957024,"",0,0],[325706,"Genetic 46,XY difference of sex development",4,3,[],[],8,0,957025,"",0,0],[325713,"Genetic 46,XY difference of sex development of endocrine origin",4,3,[],[],8,0,0,"",0,0],[329173,"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis",0,16,[0],[0,1],5,2,17992,"RBCK1 RNF31",0,0],[329178,"Congenital muscular dystrophy with intellectual disability and severe epilepsy",0,2,[0],[0,1],5,1,14023,"DPM2",1,0],[329191,"Tall stature-long halluces-multiple extra-epiphyses syndrome",0,3,[1,0],[2],5,2,14401,"NPR2 NPR3",1,0],[329195,"Developmental delay with autism spectrum disorder and gait instability",0,1,[0],[0,1],5,1,14224,"HERC2",1,0],[329211,"Autosomal dominant neovascular inflammatory vitreoretinopathy",0,10,[1],[3],5,1,100450,"CAPN5",1,0],[329217,"Cerebral sinovenous thrombosis",0,23,[3],[3],8,3,17993,"F2 F5 PROZ",0,0],[329224,"Schuurs-Hoeijmakers syndrome",1,3,[1],[4,0,1,2],5,1,14006,"PACS1",1,0],[329228,"Microcephalic primordial dwarfism due to ZNF335 deficiency",1,0,[0],[4,0],5,1,14043,"ZNF335",1,0],[329235,"X-linked central congenital hypothyroidism with late-onset testicular enlargement",0,15,[5],[0,1],5,1,10475,"IGSF1",1,0],[329242,"Congenital chronic diarrhea with protein-losing enteropathy",0,12,[0],[0,1],5,2,14375,"DGAT1 PLVAP",1,0],[329249,"Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency",7,15,[1],[2],5,1,17994,"SH2B1",1,0],[329258,"Autosomal dominant Charcot-Marie-Tooth disease type 2Q",0,1,[1],[5,6],5,1,14012,"DHTKD1",1,0],[329284,"Beta-propeller protein-associated neurodegeneration",0,1,[7],[2],5,1,10476,"WDR45",1,0],[329303,"PLA2G6-related neurodegeneration",3,1,[],[],8,0,17998,"",1,0],[329308,"Fatty acid hydroxylase-associated neurodegeneration",0,1,[0],[2,5],5,1,17999,"FA2H",0,0],[329314,"Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency",0,2,[0],[6],8,1,14899,"DGUOK",0,0],[329319,"Thrombocythemia with distal limb defects",0,3,[1],[0,1],5,1,18000,"THPO",0,0],[329329,"Autosomal recessive frontotemporal pachygyria",1,3,[0],[0,1],5,0,12462,"",0,0],[329332,"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome",1,1,[0],[0,1],5,0,13735,"",0,0],[329336,"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",0,2,[1,6],[6],8,2,18002,"RRM2B RNASEH1",0,0],[329457,"Distal arthrogryposis type 5D",0,3,[0],[0],5,1,14028,"ECEL1",1,0],[329466,"Autosomal dominant focal dystonia, DYT25 type",0,1,[1],[6],5,1,14033,"GNAL",1,0],[329469,"Acute megakaryoblastic leukemia in children without Down syndrome",2,11,[2],[2],8,2,18004,"GLIS2 CBFA2T3",0,0],[329475,"Spastic paraplegia-Paget disease of bone syndrome",0,1,[1],[6],5,1,18005,"VCP",0,0],[329478,"Adult-onset distal myopathy due to VCP mutation",0,1,[1],[6],5,1,18006,"VCP",0,0],[329481,"Lipoprotein glomerulopathy",0,13,[1],[2,5,6,7],5,1,12725,"APOE",1,0],[329802,"5p13 microduplication syndrome",1,3,[2,4],[0,1],5,1,13169,"NIPBL",0,0],[329813,"Mosaic genome-wide paternal uniparental disomy syndrome",1,3,[],[4,0],5,0,18007,"",0,0],[329874,"Idiopathic giant cell myocarditis",0,7,[2],[1,2,5,6],8,0,18008,"",0,0],[329883,"Non-hypoproteinemic hypertrophic gastropathy",0,12,[1],[8],5,0,18009,"",0,0],[329888,"Juvenile idiopathic inflammatory myopathy",4,1,[],[],8,0,18010,"",0,0],[329894,"Juvenile overlap myositis",0,1,[2],[2,5],8,0,18011,"",0,0],[329903,"Immunoglobulin-mediated membranoproliferative glomerulonephritis",2,13,[3,4],[],8,1,14005,"DGKE",1,0],[329918,"C3 glomerulopathy",2,13,[3],[3],4,0,18013,"",0,0],[329931,"C3 glomerulonephritis",10,13,[1],[],8,5,13892,"CFH CFHR1 CFHR3 CFHR5 CFHR2",4,0],[329942,"Transient neonatal multiple acyl-CoA dehydrogenase deficiency",0,2,[1],[0,1],5,0,18014,"",0,0],[329967,"Intermittent hydrarthrosis",0,14,[],[6],6,2,18015,"TNFRSF1A MEFV",0,0],[329971,"Generalized juvenile polyposis/juvenile polyposis coli",2,12,[1],[3],8,3,8276,"BMPR1A SMAD4 ENG",2,0],[329977,"Classic neuroendocrine tumor of appendix",2,11,[2],[3],8,0,18016,"",0,0],[329984,"Goblet cell carcinoma",2,11,[2],[6],8,0,18017,"",0,0],[330001,"Wild type ATTR amyloidosis",0,14,[2],[6,7],2,0,18018,"",0,0],[330012,"High altitude pulmonary edema",5,9,[2],[3],4,0,31257,"",0,0],[330015,"Lead poisoning",0,27,[2],[3],3,0,18019,"",0,0],[330021,"Mercury poisoning",0,27,[2],[3],3,0,18020,"",0,0],[330029,"Hypotrichosis-deafness syndrome",0,5,[1],[0,1],5,0,18021,"",0,0],[330032,"Hemoglobin Lepore-beta-thalassemia syndrome",0,4,[0],[8],8,0,18022,"",0,0],[330041,"Hemoglobin M disease",0,4,[1],[8],8,3,18023,"HBA2 HBB HBA1",1,0],[330050,"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect",7,1,[1],[0,1,2],5,1,13726,"DNM1L",1,0],[330054,"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome",0,1,[0],[0,1],5,1,13116,"GFER",1,0],[330058,"Hydroa vacciniforme",0,5,[2],[2],4,0,18024,"",0,0],[330061,"Actinic prurigo",0,5,[3,2],[2],8,0,8273,"",0,0],[330064,"Chronic actinic dermatitis",0,5,[2],[6],2,0,18025,"",0,0],[330206,"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability",4,3,[],[],8,0,43008,"",0,0],[331176,"Severe congenital neutropenia due to G6PC3 deficiency",0,16,[0],[0,1],5,1,12930,"G6PC3",1,0],[331184,"Syndrome with congenital neutropenia as a major feature",4,16,[],[],8,0,18032,"",0,0],[331187,"Immunodeficiency due to MASP-2 deficiency",0,16,[0],[5],5,1,13423,"MASP2",1,0],[331190,"Immunodeficiency due to ficolin3 deficiency",0,16,[0],[2],5,1,13467,"FCN3",1,0],[331193,"Other immunodeficiency syndromes due to defects in innate immunity",4,16,[],[],8,0,18033,"",0,0],[331206,"T-B-NK+  severe combined immunodeficiency due to complete RAG1/2 deficiency",0,16,[0],[1],3,2,11086,"RAG1 RAG2",2,0],[331217,"Syndrome with combined immunodeficiency",4,16,[],[],8,0,18035,"",0,0],[331220,"Syndome with combined immunodeficiency due to thymic defect",4,16,[],[],8,0,18036,"",0,0],[331223,"Hyper-IgE syndrome",3,16,[],[],8,0,18037,"",0,0],[331226,"Susceptibility to infection due to TYK2 deficiency",0,16,[0],[1],5,1,12682,"TYK2",1,0],[331232,"Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells",4,16,[],[],8,0,18038,"",0,0],[331235,"Selective IgM deficiency",0,16,[],[3],6,0,18039,"",0,0],[331240,"Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells",4,16,[],[],8,0,18040,"",0,0],[331249,"Primary hemophagocytic lymphohistiocytosis with hypopigmentation",4,16,[],[],8,0,18042,"",0,0],[352301,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis",4,2,[],[],8,0,18117,"",0,0],[352306,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement",4,2,[],[],8,0,18118,"",0,0],[352309,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement",4,2,[],[],8,0,18119,"",0,0],[352312,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement",4,2,[],[],8,0,18120,"",0,0],[352328,"MEGDEL syndrome",0,2,[0],[0,1],5,1,13875,"SERAC1",1,0],[352333,"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome",0,5,[0],[0,1],5,1,13760,"ELOVL4",1,0],[352403,"Spectrin-associated autosomal recessive cerebellar ataxia",0,1,[0],[1],5,1,14159,"SPTBN2",1,0],[352447,"Progressive external ophthalmoplegia-myopathy-emaciation syndrome",0,2,[0],[3],5,1,14039,"MGME1",1,0],[352456,"Mitochondrial DNA maintenance syndrome",4,2,[],[],8,0,18121,"",0,0],[352470,"DNA2-related mitochondrial DNA deletion syndrome",0,1,[1],[3],5,1,14062,"DNA2",1,0],[352479,"ISPD-related limb-girdle muscular dystrophy R20",0,1,[0],[1,2],5,1,14474,"CRPPA",0,0],[352490,"Autism spectrum disorder due to AUTS2 deficiency",0,3,[1],[0,1],5,1,14361,"AUTS2",1,0],[352530,"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome",0,3,[0],[0,1],5,1,18123,"TRAPPC9",1,0],[352540,"Oncogenic osteomalacia",0,0,[2],[3],4,0,18124,"",0,0],[352563,"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency",0,7,[0],[0,1],5,1,14162,"MRPL44",1,0],[352577,"Bainbridge-Ropers syndrome",0,3,[1,2],[4,0,1],5,1,14205,"ASXL3",1,0],[352587,"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation",0,1,[0],[1],5,1,18125,"TBC1D24",0,0],[352596,"Progressive myoclonic epilepsy with dystonia",0,1,[0],[0,1],5,1,18126,"TBC1D24",0,0],[352629,"16q24.1 microdeletion syndrome",0,3,[2,4],[0,1],5,0,18127,"",0,0],[352636,"Phalangeal microgeodic syndrome",0,0,[2],[2],5,0,18128,"",0,0],[352641,"Autosomal recessive cerebellar ataxia with late-onset spasticity",0,1,[0],[2,5],5,1,18129,"GBA2",0,0],[352649,"Brain dopamine-serotonin vesicular transport disease",0,2,[0],[0,1],5,1,18130,"SLC18A2",1,0],[352654,"Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome",0,1,[1,0],[2],5,1,14209,"UCHL1",1,0],[352657,"Hereditary benign intraepithelial dyskeratosis",0,10,[1],[0,1],8,0,7486,"",0,0],[352662,"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome",0,10,[1],[3],5,1,14089,"NLRP1",1,0],[352665,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion",7,3,[2,4],[0,1],5,1,18131,"HNRNPK",0,0],[352670,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F",0,1,[1],[3],5,1,14074,"GNB4",1,0],[352675,"X-linked Charcot-Marie-Tooth disease type 6",0,1,[7],[2],5,1,10479,"PDK3",1,0],[352682,"Cobblestone lissencephaly without muscular or ocular involvement",0,1,[0],[1,2],5,2,14077,"TMTC3 LAMB1",1,0],[352687,"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies",3,3,[],[],8,0,18132,"",0,0],[352709,"CLN13 disease",0,1,[],[2,5,6,7],5,1,14147,"CTSF",1,0],[352712,"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome",0,3,[0],[0,1],5,1,14058,"POLE",1,0],[352718,"Progressive retinal dystrophy due to retinol transport defect",0,10,[0],[2],5,1,14060,"RBP4",1,0],[352723,"Attenuated Chédiak-Higashi syndrome",0,1,[0],[2],7,1,18133,"LYST",0,0],[352728,"Disorder of melanin metabolism",4,2,[],[],8,0,18134,"",0,0],[352731,"Oculocutaneous albinism type 1",0,5,[0],[0,1],8,0,18135,"",1,0],[352734,"Minimal pigment oculocutaneous albinism type 1",2,5,[0],[0,1],5,1,18136,"TYR",0,0],[352737,"Temperature-sensitive oculocutaneous albinism type 1",2,5,[0],[0,1],5,1,18137,"TYR",0,0],[352745,"Oculocutaneous albinism type 7",0,5,[0],[0],5,1,14070,"LRMDA",1,0],[352763,"Scleredema",0,5,[2],[1,2,5,6],8,0,6606,"",0,0],[353217,"Epileptic encephalopathy with global cerebral demyelination",0,2,[0],[0],5,1,13056,"SLC25A12",1,0],[353220,"Familial primary localized cutaneous amyloidosis",0,5,[1],[3],8,2,7101,"OSMR IL31RA",0,0],[353253,"Burning mouth syndrome",0,1,[4],[6],6,0,6687,"",0,0],[353277,"Rubinstein-Taybi syndrome due to CREBBP mutations",7,3,[1],[4,0],8,1,8393,"CREBBP",1,0],[353281,"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion",7,3,[2],[4,0],8,1,12519,"CREBBP",0,0],[353284,"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency",7,3,[1],[0],5,1,13364,"EP300",1,0],[353298,"Roifman syndrome",0,0,[0],[4,0],5,1,14722,"RNU4ATAC",1,0],[353308,"Pyruvate carboxylase deficiency, infantile type",2,2,[0],[1],8,1,18141,"PC",0,0],[353314,"Pyruvate carboxylase deficiency, severe neonatal type",2,2,[0],[0,1],6,1,18142,"PC",0,0],[353320,"Pyruvate carboxylase deficiency, benign type",2,2,[0],[1],5,1,18143,"PC",0,0],[353327,"Congenital myasthenic syndrome with glycosylation defect",7,1,[0],[0,1],8,5,18144,"ALG2 DPAGT1 GFPT1 ALG14 GMPPB",0,0],[353334,"Congenital retinal arteriovenous communication",6,23,[2],[0,1],8,0,18145,"",0,0],[353344,"Idiopathic macular telangiectasia type 1",0,10,[2],[6],5,0,18146,"",0,0],[353351,"Idiopathic macular telangiectasia type 3",0,10,[2],[6],5,0,18147,"",0,0],[353356,"Vasoproliferative tumor of the retina",0,10,[2],[],8,0,18148,"",0,0],[356961,"SLC35A2-CDG",0,2,[4],[0,1],5,1,10478,"SLC35A2",1,0],[356978,"D,L-2-hydroxyglutaric aciduria",0,2,[0],[0,1],5,1,14072,"SLC25A1",1,0],[356996,"ANK3-related intellectual disability-sleep disturbance syndrome",0,1,[0],[2],5,1,14210,"ANK3",1,0],[357001,"19p13.13 microdeletion syndrome",1,3,[4],[0,1],5,0,13336,"",0,0],[357008,"Hemolytic uremic syndrome with DGKE deficiency",0,4,[0,2],[1],5,1,18159,"DGKE",1,0],[357027,"Hereditary retinoblastoma",2,11,[1],[0,1],8,2,18160,"RB1 MYCN",1,0],[357034,"Non-hereditary retinoblastoma",2,11,[2],[0,1],8,2,18161,"RB1 MYCN",0,0],[357043,"Amyotrophic lateral sclerosis type 4",0,1,[1],[2,5],5,1,11223,"SETX",1,0],[357058,"Autosomal recessive cutis laxa type 2A",0,5,[0],[0],5,0,18163,"",1,0],[357064,"Autosomal recessive cutis laxa type 2B",0,5,[0],[0,1],5,1,13051,"PYCR1",1,0],[357074,"Autosomal recessive cutis laxa type 2, classic type",2,5,[0],[0,1],8,3,9054,"ATP6V0A2 ATP6V1E1 ATP6V1A",1,0],[357107,"Arterial thoracic outlet syndrome",2,29,[2],[],8,0,18164,"",0,0],[357131,"Venous thoracic outlet syndrome",2,29,[2],[],8,0,18165,"",0,0],[357154,"Oral submucous fibrosis",0,25,[2],[3],8,0,18166,"",0,0],[357158,"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome",0,3,[],[0,1],5,0,11255,"",0,0],[357175,"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome",1,3,[0],[0,1],5,0,14067,"",0,0],[357220,"Primary essential cutis verticis gyrata",0,5,[2],[5,6],6,0,18167,"",0,0],[357225,"Primary non-essential cutis verticis gyrata",0,5,[],[0,1,2,5],8,0,18168,"",0,0],[357237,"Combined immunodeficiency due to CARD11 deficiency",0,16,[0],[0,1],5,1,14081,"CARD11",1,0],[357329,"Combined immunodeficiency due to IL21R deficiency",0,16,[0],[0,1],5,1,14082,"IL21R",1,0],[357332,"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome",1,3,[0],[0,1],5,0,14069,"",0,0],[357502,"Idiopathic nephrotic syndrome",3,13,[],[3],8,0,18170,"",0,0],[357506,"Genetic non-syndromic renal or urinary tract malformation",4,3,[],[],8,0,0,"",0,0],[363189,"Congenital anomaly of the great veins",4,3,[],[],8,0,18185,"",0,0],[363203,"Ring chromosome syndrome",4,3,[],[],3,0,18186,"",0,0],[363245,"Genetic progeroid syndrome",4,3,[],[],8,0,31689,"",0,0],[363250,"Ciliopathy",4,21,[],[],8,0,5308,"",57,0],[363294,"Genetic syndromic Pierre Robin syndrome",4,3,[],[],8,0,18187,"",0,0],[363300,"Genetic intractable diarrhea of infancy",4,12,[],[],8,0,31697,"",0,0],[363306,"Genetic intestinal disease due to fat malabsorption",4,12,[],[],8,0,31698,"",0,0],[363314,"Genetic intestinal polyposis",4,12,[],[],8,0,18188,"",1,0],[363396,"High myopia-sensorineural deafness syndrome",0,18,[0],[0,1],5,1,9082,"SLITRK6",1,0],[363400,"Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome",0,1,[0],[0,1],5,1,14402,"BSCL2",1,0],[363409,"Fetal akinesia-cerebral and retinal hemorrhage syndrome",0,1,[0],[0,1],5,1,14149,"DNM2",0,0],[363412,"Hypomyelination with brain stem and spinal cord involvement and leg spasticity",0,1,[0],[0,1,5],5,1,14115,"DARS1",1,0],[363417,"Temtamy preaxial brachydactyly syndrome",1,3,[0],[0,1],5,1,11533,"CHSY1",1,0],[363424,"Multiple mitochondrial dysfunctions syndrome type 3",0,1,[0],[0,1],5,1,14132,"IBA57",1,0],[363429,"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome",0,1,[0],[0,1],5,0,18189,"",0,0],[363432,"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency",2,1,[0],[0,1],5,1,14530,"GRID2",1,0],[363444,"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome",1,3,[0],[0,1],5,1,13362,"THOC6",1,0],[363447,"Autosomal dominant childhood-onset proximal spinal muscular atrophy",0,1,[1],[4,0,1,2,5],5,0,18190,"",0,0],[363454,"BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy",7,1,[1],[4,0,1,2],5,1,14121,"BICD2",1,0],[363472,"Tumor of testis and paratestis",4,11,[],[],3,0,18191,"",0,0],[363478,"Paratesticular adenocarcinoma",0,11,[2],[6],5,0,18192,"",0,0],[363483,"Testicular teratoma",0,11,[2],[1,2,5,6],5,0,18193,"",0,0],[363489,"Sex cord-stromal tumor of testis",0,11,[2],[5,6],5,0,3125,"",0,0],[363494,"Non-seminomatous germ cell tumor of testis",0,11,[2],[6],3,2,6447,"KITLG SPRY4",0,0],[363504,"Germ cell tumor of testis",4,11,[],[],8,0,10108,"",0,0],[363523,"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome",0,3,[0],[0,1],5,1,14131,"COG6",0,0],[363528,"Intellectual disability-strabismus syndrome",0,1,[0],[0,1],5,1,14119,"ADAT3",1,0],[363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",0,2,[0],[0,1],5,1,18197,"TWNK",0,0],[363540,"Leukoencephalopathy with mild cerebellar ataxia and white matter edema",0,1,[0],[3],5,1,14292,"CLCN2",1,0],[363549,"Acute encephalopathy with biphasic seizures and late reduced diffusion",0,1,[2],[0,1],5,1,18198,"ADORA2A",0,0],[363558,"New-onset refractory status epilepticus",0,1,[2],[6],6,0,18199,"",0,0],[363567,"Acute encephalopathy with inflammation-mediated status epilepticus",3,1,[],[3],8,0,18200,"",0,0],[363579,"Extragonadal germ cell tumor",4,11,[],[],4,0,18201,"",0,0],[363582,"Gonadal germ cell tumor",4,11,[],[],8,0,18202,"",0,0],[363611,"CTCF-related neurodevelopmental disorder",0,3,[1],[4,0,1,2],5,1,14213,"CTCF",1,0],[363618,"LMNA-related cardiocutaneous progeria syndrome",0,3,[1],[2],5,1,18203,"LMNA",0,0],[363623,"GMPPB-related limb-girdle muscular dystrophy R19",0,1,[0],[0,1,2],5,1,14142,"GMPPB",1,0],[363649,"Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome",0,5,[1],[2],5,1,14157,"POLD1",1,0],[363654,"X-linked parkinsonism-spasticity syndrome",0,1,[5],[5,6],5,1,10482,"ATP6AP2",1,0],[363659,"20q11.2 microduplication syndrome",1,3,[],[0,1],8,0,18204,"",0,0],[363665,"Acroosteolysis-keloid-like lesions-premature aging syndrome",0,5,[1],[0,1],5,1,11150,"PDGFRB",1,0],[363677,"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia",0,1,[0],[2],5,1,18206,"MYH2",0,0],[363680,"2p13.2 microdeletion syndrome",1,3,[1],[0,1],5,0,18207,"",0,0],[363686,"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome",0,3,[1],[0,1],5,1,14034,"GATAD2B",1,0],[363694,"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome",0,2,[0],[0,1],5,1,13458,"SARS2",1,0],[363700,"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion",7,3,[1],[0,1],8,1,18208,"NF1",0,0],[363705,"Craniofaciofrontodigital syndrome",0,3,[4],[0],5,0,7259,"",0,0],[363710,"Spinocerebellar ataxia type 37",0,1,[1],[6],5,2,14410,"SCA37 DAB1",1,0],[363717,"Alexander disease type I",2,1,[2],[0,1],6,1,18209,"GFAP",0,0],[363722,"Alexander disease type II",2,1,[1],[2,5,6],6,1,18210,"GFAP",0,0],[363727,"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia",0,4,[5],[3],7,1,10444,"GATA1",0,0],[363741,"Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome",0,3,[1],[0,1],8,0,11145,"",0,0],[363746,"Balint syndrome",9,1,[2],[3],8,0,18211,"",0,0],[363958,"17q21.31 microdeletion syndrome",7,3,[1],[0,1],3,1,18216,"KANSL1",0,0],[363965,"Koolen-De Vries syndrome due to a point mutation",7,3,[1],[0,1],5,1,18217,"KANSL1",0,0],[363969,"Autosomal recessive cerebral atrophy",0,1,[0],[0,1],5,1,18218,"TMPRSS4",0,0],[363972,"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia",1,3,[1],[0,1],8,1,13308,"CBL",1,0],[363976,"Giant cell tumor of bone",0,11,[2],[6],4,0,5674,"",0,0],[363981,"Charcot-Marie-Tooth disease type 4B3",0,1,[0],[2],5,1,14117,"SBF1",1,0],[363989,"Familial benign flecked retina",0,10,[0],[2,6],5,1,9235,"PLA2G5",1,0],[363992,"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome",0,3,[0],[0,1],5,2,13176,"ADAMTS17 CERS3",1,0],[363999,"Non-immune hydrops fetalis",2,3,[2],[4,0],0,3,9369,"THSD1 ANGPT2 CALCRL",2,0],[364013,"Immune hydrops fetalis",2,3,[2],[4,0],2,0,18221,"",0,0],[364028,"X-linked intellectual disability due to GRIA3 mutations",0,3,[5],[1],5,1,18222,"GRIA3",1,0],[364033,"Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood",0,11,[2],[2],8,0,18223,"",0,0],[364039,"Hydroa vacciniforme-like lymphoma",0,11,[2],[2,6],8,0,18224,"",0,0],[364043,"ALK-positive large B-cell lymphoma",0,11,[3,2],[],8,1,18225,"ALK",0,0],[364055,"Severe early-childhood-onset retinal dystrophy",0,10,[0],[1,2],6,9,9549,"PRPH2 RPE65 CABP4 ALMS1 OTX2 LCA5 KCNJ13 LRAT SPATA7",1,0],[364063,"Infantile epileptic-dyskinetic encephalopathy",0,1,[5],[0,1],8,1,18226,"ARX",0,0],[364198,"Bipartite talus",6,3,[2],[5,6],5,0,18228,"",0,0],[364526,"Primary bone dysplasia",4,0,[],[],8,0,18230,"",6,0],[364531,"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments",4,0,[],[],8,0,18231,"",0,0],[364536,"Primary bone dysplasia with micromelia",4,0,[],[],8,0,18232,"",0,0],[364541,"Otopalatodigital syndrome spectrum disorder",3,0,[],[],8,0,18233,"",0,0],[364559,"Dysostosis",4,3,[],[],8,0,18234,"",0,0],[364568,"Dysostosis with limb anomaly as a major feature",4,3,[],[],8,0,18235,"",0,0],[364571,"Dysostosis with limb and face anomalies as a major feature",4,3,[],[],8,0,18236,"",0,0],[364574,"Acrofacial dysostosis",3,3,[],[],8,0,18237,"",0,0],[364577,"Intellectual disability-brachydactyly-Pierre Robin syndrome",1,3,[],[0],5,0,12095,"",0,0],[364803,"Rare bone disease related to a common gene or pathway defect",4,0,[],[],8,0,31799,"",0,0],[364820,"TRPV4-related bone disorder",4,0,[],[],8,0,18240,"",1,0],[365563,"Primary short bowel syndrome",3,12,[],[],8,0,18241,"",0,0],[369837,"Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome",1,1,[0],[0,1],5,1,14165,"PIGT",1,0],[369840,"TRAPPC11-related limb-girdle muscular dystrophy R18",0,1,[0],[1,2],5,1,14144,"TRAPPC11",1,0],[369847,"Intellectual disability-hyperkinetic movement-truncal ataxia syndrome",0,1,[0],[2],5,1,18243,"TRAPPC11",0,0],[369852,"Congenital neutropenia-myelofibrosis-nephromegaly syndrome",0,16,[0],[0,1],5,1,14118,"VPS45",1,0],[369861,"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome",0,16,[0],[0,1],5,1,14487,"TRNT1",1,0],[369867,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type C",0,1,[0],[2,6,3],7,1,14154,"PLEKHG5",1,0],[369873,"Obesity due to SIM1 deficiency",7,15,[0],[0,1],8,1,18244,"SIM1",1,0],[369881,"2p21 microdeletion syndrome without cystinuria",1,3,[0],[0,1],5,2,18245,"PREPL CAMKMT",0,0],[369886,"Homozygous 2p21 microdeletion syndrome",3,3,[2],[],8,0,18246,"",0,0],[369891,"Developmental delay-facial dysmorphism syndrome due to MED13L deficiency",1,3,[1],[0,1],5,1,14773,"MED13L",1,0],[369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",0,2,[0],[0,1],5,1,14198,"FBXL4",1,0],[369913,"Combined oxidative phosphorylation defect type 17",0,2,[0],[0,1],5,1,14190,"ELAC2",1,0],[369920,"Pontocerebellar hypoplasia type 9",2,3,[0],[0,1],5,1,14351,"AMPD2",1,0],[369929,"Primary hyperaldosteronism-seizures-neurological abnormalities syndrome",0,1,[2],[0,1],5,1,14200,"CACNA1D",1,0],[369939,"Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",1,1,[0],[0,1],5,1,10334,"BCAP31",1,0],[369942,"CADDS",0,1,[5],[0,1],5,2,18247,"ABCD1 BCAP31",0,0],[369950,"Intellectual disability-seizures-macrocephaly-obesity syndrome",0,3,[2,4],[0,1],5,0,18248,"",0,0],[369955,"Methylmalonic acidemia with homocystinuria, type cblJ",2,2,[0],[0,1],5,1,13925,"ABCD4",1,0],[369962,"Methylmalonic acidemia with homocystinuria, type cblX",2,2,[5],[0,1],5,1,10657,"HCFC1",1,0],[369970,"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome",0,10,[0],[2],5,1,14195,"ADAMTS18",1,0],[369979,"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome",1,3,[],[0,1],5,0,18249,"",0,0],[369992,"Severe dermatitis-multiple allergies-metabolic wasting syndrome",0,5,[0],[0,1],5,2,14218,"DSG1 DSP",1,0],[369999,"Diffuse palmoplantar keratoderma with painful fissures",0,5,[1],[0,1],8,1,18250,"DSG1",0,0],[370002,"Focal palmoplantar keratoderma with joint keratoses",0,5,[1],[0,1],8,1,18252,"DSG1",0,0],[370010,"Intellectual disability-facial dysmorphism-hand anomalies syndrome",1,3,[0],[0,1],5,0,18253,"",0,0],[370015,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type",0,0,[1],[0,1],5,1,18254,"RPL13",0,0],[370022,"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome",0,1,[0],[0,1],5,1,14419,"LAMA1",1,0],[370026,"Acute myeloid leukemia with t(8;16)(p11;p13) translocation",0,11,[2],[3],8,2,18256,"CREBBP KAT6A",0,0],[370034,"Familial syringomyelia",2,3,[1,0],[0,1],8,0,18257,"",0,0],[370039,"Angora hair nevus",0,5,[2,4],[0,1],5,0,18258,"",0,0],[370046,"Didymosis aplasticosebacea",0,5,[2],[0,1],5,0,18259,"",0,0],[370052,"SCALP syndrome",0,5,[2],[0],5,0,18260,"",0,0],[370059,"NEVADA syndrome",0,5,[2],[],8,0,18261,"",0,0],[370068,"Fetal anticonvulsant syndrome",3,3,[],[],8,0,18262,"",0,0],[370076,"Fetal carbamazepine syndrome",1,3,[2],[4,0,1],8,0,18263,"",0,0],[370079,"Proximal 16p11.2 microduplication syndrome",1,3,[],[0,1],5,0,13847,"",0,0],[370088,"Acute infantile liver failure-multisystemic involvement syndrome",0,17,[0],[0,1],5,1,24568,"LARS1",1,0],[370091,"Oculocutaneous albinism type 5",0,5,[0],[0,1],5,0,14127,"",0,0],[370097,"Oculocutaneous albinism type 6",0,5,[0],[0,1],5,1,18264,"SLC24A5",1,0],[370103,"Primary dystonia, DYT17 type",0,1,[0],[5,6],5,1,12895,"DYT17",0,0],[370106,"Rare disorder with dystonia and other neurologic or systemic manifestation",4,1,[],[],8,0,18265,"",0,0],[370109,"Ataxia-telangiectasia variant",0,1,[0],[],8,1,18266,"ATM",0,0],[370127,"Medich giant platelet syndrome",0,4,[],[0,1],5,0,18268,"",0,0],[370131,"White platelet syndrome",0,4,[1],[1,2],5,0,18269,"",0,0],[370334,"Extraskeletal Ewing sarcoma",0,11,[2],[2,5,6],5,4,18270,"ERG EWSR1 FLI1 SMARCA5",0,0],[370348,"Peripheral primitive neuroectodermal tumor",0,11,[2],[2,5,6],6,1,18271,"FLI1",0,0],[370396,"Small cell carcinoma of the ovary",0,11,[2],[1,2,5,6],5,1,3795,"SMARCA4",0,0],[370921,"STT3A-CDG",0,1,[0],[0,1],5,1,14270,"STT3A",1,0],[370924,"STT3B-CDG",0,1,[0],[0,1],5,1,14271,"STT3B",0,0],[370927,"SSR4-CDG",0,1,[5],[0,1],5,1,10490,"SSR4",1,0],[370930,"XYLT1-CDG",0,3,[0],[0,1],5,1,18273,"XYLT1",0,0],[370933,"GM3 synthase deficiency",0,2,[0],[],8,1,18274,"ST3GAL5",1,0],[370943,"Autism spectrum disorder-epilepsy-arthrogryposis syndrome",0,1,[0],[0,1],5,1,14248,"SLC35A3",1,0],[370953,"Congenital muscular dystrophy due to dystroglycanopathy",4,1,[],[],8,0,18276,"",4,0],[370959,"Congenital muscular dystrophy with cerebellar involvement",0,1,[0],[0,1],8,6,18277,"POMGNT1 POMT1 POMT2 FKRP POMK GMPPB",0,0],[370968,"Congenital muscular dystrophy with intellectual disability",0,1,[0],[0,1],8,5,18278,"POMT1 POMT2 FKRP LARGE1 GMPPB",0,0],[370980,"Congenital muscular dystrophy without intellectual disability",0,1,[0],[0,1],6,4,18279,"POMT1 FKTN FKRP CRPPA",0,0],[370997,"Muscle-eye-brain disease with bilateral multicystic leucodystrophy",0,1,[0],[1],5,1,18280,"DAG1",0,0],[371007,"Congenital muscular dystrophy with hyperlaxity",0,1,[],[0],5,0,18281,"",0,0],[371024,"Qualitative or quantitative defects of alpha-dystroglycan",4,1,[],[],8,0,18282,"",1,0],[371040,"Primary qualitative or quantitative defects of alpha-dystroglycan",4,1,[],[],8,0,18283,"",0,0],[371047,"Congenital disorder of glycosylation with neurological involvement",4,2,[],[],8,0,18284,"",0,0],[371071,"Congenital disorder of glycosylation with epilepsy as a major feature",4,2,[],[],8,0,18287,"",0,0],[371157,"Congenital disorder of glycosylation with hepatic involvement",4,2,[],[],8,0,18288,"",0,0],[371176,"Congenital disorder of glycosylation with dilated cardiomyopathy",4,2,[],[],8,0,18289,"",0,0],[371183,"Congenital disorder of glycosylation with cardiac malformation as a major feature",4,2,[],[],8,0,18290,"",0,0],[371188,"Congenital disorder of glycosylation with intestinal involvement",4,2,[],[],8,0,18291,"",0,0],[371195,"Congenital disorder of glycosylation-related bone disorder",4,2,[],[],8,0,18292,"",0,0],[371200,"Congenital disorder of glycosylation with skin involvement",4,2,[],[],8,0,18293,"",0,0],[371207,"Congenital disorder of glycosylation with nephropathy as a major feature",4,2,[],[],8,0,18294,"",0,0],[371212,"Congenital disorder of glycosylation with deafness as a major feature",4,2,[],[],8,0,18295,"",0,0],[371235,"Congenital disorder of glycosylation with developmental anomaly",4,2,[],[],8,0,18296,"",0,0],[371364,"Hypotonia-speech impairment-severe cognitive delay syndrome",0,3,[0],[0,1],8,0,14176,"",1,0],[371428,"Multicentric osteolysis-nodulosis-arthropathy spectrum",0,14,[0],[1,2],6,2,18298,"MMP2 MMP14",0,0],[371433,"Genetic periodic paralysis",4,1,[],[],8,0,995,"",0,0],[371436,"Genetic neurovascular malformation",4,3,[],[],8,0,31949,"",0,0],[371442,"Sphingolipidosis with epilepsy",4,1,[],[],8,0,18299,"",0,0],[371445,"Genetic syndromic esophageal malformation",4,3,[],[],8,0,31952,"",0,0],[371861,"Genetic hyperaldosteronism",4,15,[],[],8,0,16525,"",0,0],[376724,"Generalized isolated dystonia",4,1,[],[],8,0,476,"",0,0],[391307,"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome",1,3,[0],[0,1],5,1,14238,"TTI2",1,0],[391311,"Susceptibility to viral and mycobacterial infections due to STAT1 deficiency",0,16,[0],[],8,1,13427,"STAT1",1,0],[391316,"TNK2-related epilepsy with severe cognitive regression",0,1,[0],[0,1],5,1,18314,"TNK2",0,0],[391320,"East Texas bleeding disorder",7,4,[1],[2],5,1,11615,"F5",0,0],[391327,"X-linked calvarial hyperostosis",0,0,[5],[0,1],5,0,10541,"",0,0],[391330,"X-linked osteoporosis with fractures",0,0,[5],[2],5,1,18315,"PLS3",1,0],[391343,"Fatal post-viral neurodegenerative disorder",0,1,[0],[2],5,1,18316,"PRF1",0,0],[391348,"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome",0,2,[0],[0,1],5,1,14261,"SFXN4",1,0],[391351,"SURF1-related Charcot-Marie-Tooth disease type 4",0,1,[0],[2],5,1,14733,"SURF1",1,0],[391366,"Growth retardation-mild developmental delay-chronic hepatitis syndrome",0,17,[0],[0,1],5,1,18317,"SH2B3",0,0],[391372,"FOXP1 Syndrome",1,1,[1],[0,1],5,1,13352,"FOXP1",1,0],[391376,"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome",0,1,[0],[0,1],5,1,14258,"ASNS",1,0],[391381,"Disorder of asparagine metabolism",4,2,[],[],8,0,18318,"",0,0],[391384,"Familial episodic pain syndrome",0,1,[1],[0,1],8,0,18319,"",0,0],[391389,"Familial episodic pain syndrome with predominantly upper body involvement",2,1,[1],[0,1],5,1,14021,"TRPA1",1,0],[391392,"Familial episodic pain syndrome with predominantly lower limb involvement",2,1,[1],[0,1],5,1,14247,"SCN11A",1,0],[391397,"Hereditary sensory and autonomic neuropathy type 7",0,1,[1],[0,1],5,1,14244,"SCN11A",1,0],[391408,"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome",0,1,[0],[2,5],5,2,18320,"TRMT10A PPP1R15B",0,0],[391411,"Atypical juvenile parkinsonism",0,1,[0,2],[5,6],5,3,18321,"DNAJC6 SYNJ1 PODXL",0,0],[391417,"HSD10 disease",0,2,[7],[0,1,2],5,0,10327,"",1,0],[391428,"HSD10 disease, infantile type",2,2,[7],[0,1],8,1,18322,"HSD17B10",0,0],[391457,"HSD10 disease, neonatal type",2,2,[7],[0,1],5,1,18323,"HSD17B10",0,0],[391474,"Frontorhiny",1,0,[0],[0],8,1,7636,"ALX3",1,0],[391487,"STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome",0,16,[1],[1],5,1,13599,"STAT1",1,0],[391490,"Adult-onset myasthenia gravis",2,1,[3,2],[6],2,0,18324,"",0,0],[391497,"Juvenile myasthenia gravis",2,1,[2],[0,1,2,5],6,0,18325,"",0,0],[391504,"Transient neonatal myasthenia gravis",2,1,[2],[4,0],6,0,18326,"",1,0],[391641,"Feingold syndrome type 1",2,3,[1],[4,0],5,1,8115,"MYCN",1,0],[391646,"Feingold syndrome type 2",2,3,[1],[4,0],5,1,13691,"MIR17HG",1,0],[391651,"Glomus tumor",0,11,[2],[3],8,0,18327,"",0,0],[391655,"Off-periods in Parkinson disease not responding to oral treatment",5,16,[2],[6,7],3,0,0,"",0,0],[391665,"Homozygous familial hypercholesterolemia",0,15,[1,0],[0],4,6,18328,"ABCG5 ABCG8 APOB LDLR LDLRAP1 PCSK9",0,0],[391673,"Necrotizing enterocolitis",0,12,[2],[0],2,0,5313,"",0,0],[391677,"Short stature-optic atrophy-Pelger-Huët anomaly syndrome",1,3,[0],[0,1],5,1,13889,"NBAS",1,0],[391711,"Persistent combined dystonia",3,1,[],[],8,0,18329,"",0,0],[391723,"Mucinous adenocarcinoma of the appendix",0,11,[2],[6,7],8,0,18330,"",0,0],[391799,"Rare genetic dystonia",4,1,[],[],8,0,44807,"",2,0],[394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",2,2,[0],[0,1],8,4,18332,"ETFA ETFB ETFDH FLAD1",0,0],[394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",2,2,[0],[],8,5,18333,"ETFA ETFB ETFDH FLAD1 SLC25A32",0,0],[397587,"Deep dermatophytosis",0,8,[2],[2,6],8,0,21660,"",0,0],[397590,"Silver-Russell syndrome due to a point mutation",7,3,[1],[4,0],5,4,18336,"CDKN1C IGF2 HMGA2 PLAG1",0,0],[397593,"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency",0,2,[0],[0],5,2,700371,"LYRM4 NFS1",0,0],[397596,"Activated PI3K-delta syndrome",3,16,[1],[1,2,6],6,0,18338,"",0,0],[397606,"PrP systemic amyloidosis",0,1,[1],[6],5,1,18339,"PRNP",0,0],[397612,"Macrocephaly-developmental delay syndrome",1,3,[0],[0],5,1,14289,"KPTN",1,0],[397615,"Obesity due to CEP19 deficiency",7,15,[0],[2],5,1,14309,"CEP19",1,0],[397618,"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome",0,10,[0],[0],5,1,12216,"SLC38A8",1,0],[397623,"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome",1,0,[0],[0],5,1,11227,"GSC",1,0],[397685,"Familial hyperprolactinemia",0,15,[1],[6],8,1,14250,"PRLR",0,0],[397695,"3q27.3 microdeletion syndrome",0,3,[1],[],8,0,18341,"",0,0],[397709,"Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome",1,3,[0],[1],5,1,14601,"SNX14",1,0],[397715,"Joubert syndrome with Jeune asphyxiating thoracic dystrophy",2,3,[0],[0],5,2,18342,"CSPP1 KIAA0586",0,0],[397725,"COASY protein-associated neurodegeneration",0,1,[0],[2],5,1,14290,"COASY",1,0],[397735,"Autosomal dominant Charcot-Marie-Tooth disease type 2U",0,1,[1],[6],5,1,14566,"MARS1",1,0],[397744,"MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",0,1,[1],[2],5,1,13711,"MYH14",1,0],[397750,"Periodic paralysis with later-onset distal motor neuropathy",0,1,[6],[5,6],5,2,18343,"MT-ATP6 MT-ATP8",0,0],[397755,"Periodic paralysis with transient compartment-like syndrome",0,1,[1],[3],5,1,18344,"CACNA1S",0,0],[397758,"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies",0,10,[1],[6],5,1,14483,"ITM2B",0,0],[397787,"Combined immunodeficiency due to IKBKB deficiency",0,16,[0],[1],5,1,14267,"IKBKB",1,0],[397922,"Ferro-cerebro-cutaneous syndrome",0,1,[5],[1],5,1,18346,"PIGA",0,0],[397927,"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome",1,3,[0],[4,0],5,1,14314,"TBXT",0,0],[397933,"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome",0,1,[5],[0,1],5,1,10656,"IQSEC2",1,0],[397937,"Polyglucosan body myopathy type 1",0,2,[0],[2,5],5,1,14389,"RBCK1",1,0],[397941,"MAN1B1-CDG",0,2,[0],[1,2],5,1,18349,"MAN1B1",1,0],[397946,"Autosomal spastic paraplegia type 58",0,1,[1,0],[1,2,5,6,7],5,1,12651,"KIF1C",1,0],[397951,"Microcephaly-thin corpus callosum-intellectual disability syndrome",0,1,[0],[1],5,1,14273,"TAF2",1,0],[397959,"TCR-alpha-beta-positive T-cell deficiency",0,16,[0],[1],5,1,14160,"TRAC",1,0],[397964,"Combined immunodeficiency due to MALT1 deficiency",0,16,[0],[1],5,1,14197,"MALT1",1,0],[397968,"Charcot-Marie-Tooth disease type 2R",0,1,[0],[1],5,1,14208,"TRIM2",1,0],[397973,"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome",0,3,[0],[0],5,0,11722,"",0,0],[398043,"Malignant tumor of penis",4,11,[],[7],3,0,1325,"",0,0],[398053,"Adenocarcinoma of the penis",0,11,[2],[7],5,0,2653,"",0,0],[398058,"Squamous cell carcinoma of the penis",0,11,[2],[7],4,0,18352,"",0,0],[398063,"Refractory celiac disease",0,12,[2],[3],6,0,18353,"",0,0],[398069,"Schaaf-Yang syndrome",0,3,[2],[4,0],5,1,14243,"MAGEL2",1,0],[398073,"Prader-Willi-like syndrome",3,3,[],[0],6,0,18354,"",0,0],[398079,"SIM1-related Prader-Willi-like syndrome",0,3,[1],[4,0,1],5,1,18355,"SIM1",0,0],[398088,"Hereditary cryohydrocytosis with normal stomatin",0,4,[1],[0],5,1,8494,"SLC4A1",1,0],[398091,"Secondary neonatal autoimmune disease",4,14,[],[0],8,0,18356,"",0,0],[398097,"Neonatal antiphospholipid syndrome",0,14,[2],[0],5,0,18357,"",0,0],[398109,"Neonatal autoimmune hemolytic anemia",0,14,[2],[0],5,0,18358,"",0,0],[398117,"Neonatal dermatomyositis",0,14,[2],[0],5,0,18359,"",0,0],[398124,"Neonatal lupus erythematosus",0,14,[2],[0],4,0,18360,"",0,0],[398127,"Neonatal scleroderma",0,14,[2],[0],5,0,18361,"",0,0],[398147,"Persistent idiopathic facial pain",0,1,[2],[6],3,0,18362,"",0,0],[398156,"Oculoauriculofrontonasal syndrome",1,3,[4],[0],5,0,11082,"",0,0],[398166,"Focal facial dermal dysplasia",1,5,[1,0],[4,0],5,0,18363,"",0,0],[398173,"Focal facial dermal dysplasia type II",2,5,[1],[4,0],5,0,13996,"",0,0],[398189,"Focal facial dermal dysplasia type IV",2,5,[0],[4,0],5,1,13997,"CYP26C1",1,0],[398934,"Malignant epithelial tumor of ovary",4,11,[],[6],3,0,18364,"",0,0],[398940,"Malignant non-epithelial tumor of ovary",4,11,[],[6],4,0,18365,"",0,0],[398961,"Mucinous adenocarcinoma of ovary",0,11,[2],[6],4,0,5601,"",0,0],[398971,"Clear cell adenocarcinoma of the ovary",0,11,[2],[6],4,0,6045,"",0,0],[398987,"Malignant teratoma of ovary",0,11,[4],[1,2,5,6],5,1,18369,"BMP15",0,0],[399058,"Alpha-B crystallin-related late-onset myopathy",0,1,[1],[6],5,1,12130,"CRYAB",1,0],[399081,"KLHL9-related early-onset distal myopathy",0,1,[1],[2,5],5,1,18370,"KLHL9",0,0],[399086,"HNRNPA1-related adult-onset distal myopathy",0,1,[],[6],5,1,12410,"HNRNPA1",0,0],[399096,"Distal anoctaminopathy",0,1,[0],[5,6],5,1,13222,"ANO5",1,0],[399103,"Autosomal recessive distal nebulin myopathy",0,1,[0],[1,2,5,6],5,1,18371,"NEB",0,0],[399158,"Osteonecrosis",4,0,[],[],8,0,5380,"",0,0],[399164,"Avascular necrosis",4,0,[],[],8,0,18373,"",0,0],[399169,"Secondary avascular necrosis",4,0,[],[],8,0,18374,"",0,0],[399175,"Traumatic avascular necrosis",0,0,[2],[],8,0,18375,"",0,0],[399180,"Secondary non-traumatic avascular necrosis",0,0,[2],[6],8,0,18376,"",0,0],[399185,"Rare hereditary disease with avascular necrosis",4,0,[],[],8,0,18377,"",0,0],[399293,"Osteonecrosis of the jaw",0,0,[2],[],8,0,18378,"",0,0],[399302,"Primary avascular necrosis",3,0,[],[],8,0,18379,"",0,0],[399307,"Idiopathic avascular necrosis",0,0,[2],[],8,0,18380,"",0,0],[399319,"Osteochondrosis",4,0,[],[],8,0,18381,"",0,0],[399329,"Epiphysiolysis of the hip",0,0,[2],[2,5],8,0,18382,"",0,0],[399380,"Osteonecrosis of genetic origin",4,0,[],[],8,0,18383,"",0,0],[399388,"Avascular necrosis of genetic origin",4,0,[],[],8,0,18384,"",0,0],[399391,"Osteochondrosis of genetic origin",4,0,[],[],8,0,18385,"",0,0],[399572,"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder",4,15,[],[],8,0,18386,"",0,0],[399584,"Rare male infertility due to adrenal disorder",4,15,[],[],8,0,18387,"",0,0],[399685,"Rare male infertility due to testicular endocrine disorder",4,15,[],[],8,0,18388,"",0,0],[399764,"Male infertility due to gonadal dysgenesis or sperm disorder",4,3,[],[],8,0,18389,"",0,0],[399771,"Male infertility due to sperm disorder",4,3,[],[],8,0,18390,"",0,0],[399775,"Male infertility with spermatogenesis disorder",4,3,[],[],8,0,18391,"",0,0],[399786,"Male infertility with spermatogenesis disorder due to single gene mutation",4,3,[],[],8,0,18392,"",0,0],[399805,"Male infertility with azoospermia or oligozoospermia due to single gene mutation",0,20,[1,0,5],[5,6],8,38,18393,"STAG3 TAF4B ZMYND15 SYCE1 TEX11 SYCP3 KLHL10 DNAH10 MSH5 MEIOB TDRD9 SPAG17 TEX15 TEX14 C14ORF39 PNLDC1 PDHA2 ZSWIM7 DNHD1 CCDC34 CT55 RPL10L CATIP RNF212 TERB1 TERB2 MOV10L1 FBXO43 SHOC1 GCNA SPINK2 CFTR FANCM NR5A1 XRCC2 SOHLH1 NANOS1 RBBP7",25,0],[399808,"Male infertility with teratozoospermia due to single gene mutation",0,20,[],[5,6],8,0,18394,"",0,0],[399813,"Male infertility due to sperm motility disorder",4,3,[],[],8,0,18395,"",0,0],[399824,"Rare disorder with obstructive azoospermia",4,20,[],[],8,0,18396,"",0,0],[399831,"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder",4,15,[],[],8,0,18397,"",0,0],[399839,"Rare female infertility due to a congenital hypogonadotropic hypogonadism",4,15,[],[],8,0,18398,"",0,0],[399846,"Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism",4,15,[],[],8,0,32221,"",0,0],[399849,"Rare female infertility due to an adrenal disorder",4,15,[],[],8,0,18400,"",0,0],[399853,"Rare female infertility due to an anomaly of ovarian function",4,15,[],[],8,0,18401,"",0,0],[399877,"Rare female infertility due to gonadal dysgenesis",4,3,[],[],8,0,18402,"",0,0],[399882,"Rare female infertility due to an implantation defect",4,3,[],[],8,0,18403,"",0,0],[399980,"Rare genetic male infertility",4,20,[],[],8,0,18404,"",0,0],[399983,"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin",4,15,[],[],8,0,18405,"",0,0],[399994,"Rare male infertility due to adrenal disorder of genetic origin",4,15,[],[],8,0,18406,"",0,0],[399998,"Male infertility due to obstructive azoospermia of genetic origin",4,20,[],[],8,0,18407,"",0,0],[400003,"Rare genetic disorder with obstructive azoospermia",4,20,[],[],8,0,18409,"",0,0],[400008,"Rare genetic female infertility",4,20,[],[],8,0,18410,"",0,0],[400011,"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin",4,15,[],[],8,0,18411,"",0,0],[400018,"Rare female infertility due to adrenal disorder of genetic origin",4,15,[],[],8,0,18412,"",0,0],[400022,"Rare female infertility due to an anomaly of ovarian function of genetic origin",4,15,[],[],8,0,18413,"",0,0],[400025,"Female infertility due to an implantation defect of genetic origin",4,3,[],[],8,0,18414,"",0,0],[401764,"Pancytopenia-developmental delay syndrome",0,4,[0],[5],5,1,14317,"ERCC6L2",1,0],[401768,"Proximal myopathy with extrapyramidal signs",0,1,[0],[1,2],5,1,14300,"MICU1",1,0],[401777,"Optic atrophy-intellectual disability syndrome",0,10,[1],[0],5,1,14320,"NR2F1",1,0],[401780,"Autosomal recessive spastic paraplegia type 61",0,1,[0],[1],5,1,14304,"ARL6IP1",1,0],[401785,"Autosomal recessive spastic paraplegia type 62",0,1,[0],[1,2],5,1,14302,"ERLIN1",1,0],[401795,"Autosomal recessive spastic paraplegia type 59",0,1,[0],[1],5,1,18416,"USP8",0,0],[401800,"Autosomal recessive spastic paraplegia type 60",0,1,[0],[1],5,1,18417,"WDR48",0,0],[401805,"Autosomal recessive spastic paraplegia type 63",0,1,[0],[1],5,1,14305,"AMPD2",0,0],[401810,"Autosomal recessive spastic paraplegia type 64",0,1,[0],[1,2],5,1,14303,"ENTPD1",1,0],[401815,"Autosomal recessive spastic paraplegia type 66",0,1,[0],[1],5,1,18418,"ARSI",0,0],[401820,"Autosomal recessive spastic paraplegia type 67",0,1,[0],[1,2],5,1,18419,"PGAP1",0,0],[401830,"Autosomal recessive spastic paraplegia type 69",0,1,[0],[1],5,1,18421,"RAB3GAP2",0,0],[401835,"Autosomal recessive spastic paraplegia type 70",0,1,[0],[1],5,1,18422,"MARS1",0,0],[401840,"Autosomal recessive spastic paraplegia type 71",0,1,[0],[1],5,1,18423,"ZFR",0,0],[401849,"Autosomal spastic paraplegia type 72",0,1,[1,0],[2],5,1,14282,"REEP2",1,0],[401854,"Lipoic acid biosynthesis defect",4,2,[0],[0,2],8,0,18424,"",0,0],[401859,"Lipoic acid synthetase deficiency",0,2,[0],[0],5,1,13762,"LIAS",1,0],[401862,"Lipoyl transferase 1 deficiency",0,2,[0],[0,1],5,1,14576,"LIPT1",2,0],[401866,"Childhood-onset spasticity with hyperglycinemia",0,2,[0],[2],5,1,14803,"GLRX5",1,0],[401869,"Multiple mitochondrial dysfunctions syndrome type 1",0,2,[0],[0],5,1,11582,"NFU1",1,0],[401874,"Multiple mitochondrial dysfunctions syndrome type 2",0,2,[0],[0],5,1,13675,"BOLA3",1,0],[401901,"Huntington disease-like syndrome due to C9ORF72 expansions",0,1,[1],[6],5,1,18425,"C9ORF72",0,0],[401911,"AXIN2-related polyposis",0,12,[1],[6],5,1,18426,"AXIN2",0,0],[401920,"Fibrolamellar hepatocellular carcinoma",0,11,[2],[5,6],5,2,6210,"DNAJB1 PRKACA",0,0],[401923,"9q31.1q31.3 microdeletion syndrome",1,1,[4],[0],5,0,18428,"",0,0],[401935,"14q24.1q24.3 microdeletion syndrome",1,1,[4],[0],5,0,18429,"",0,0],[401942,"Familial median cleft of the upper and lower lips",1,3,[4],[0],5,0,14388,"",0,0],[401945,"Moyamoya disease with early-onset achalasia",0,14,[0],[0,1],5,1,14331,"GUCY1A1",1,0],[401948,"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency",0,2,[0],[0,1,2],5,1,14332,"CA5A",1,0],[401953,"Episodic ataxia with slurred speech",0,1,[1],[1],5,0,14476,"",0,0],[401959,"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome",1,1,[0],[0],5,1,18430,"KPNA7",0,0],[401964,"Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons",0,1,[1],[1,2],5,1,12411,"DCAF8",1,0],[401973,"MEND syndrome",1,1,[5],[0,1],5,1,10498,"EBP",1,0],[401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",1,0,[0],[4],5,1,13223,"PAM16",1,0],[401986,"1p31p32 microdeletion syndrome",1,3,[4],[0],5,1,13396,"NFIA",1,0],[401993,"Cold-induced sweating syndrome-hyperthermia spectrum",3,1,[0],[],8,0,18431,"",0,0],[401996,"Karyomegalic interstitial nephritis",0,13,[0],[6],5,1,13898,"FAN1",1,0],[402003,"Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering",0,5,[1],[2],5,1,14327,"KRT6C",1,0],[402007,"Lichen myxedematosus",3,5,[],[1,6],8,0,18432,"",0,0],[402014,"Acute myeloid leukemia with t(6;9)(p23;q34)",0,11,[2],[],5,2,18433,"NUP214 DEK",0,0],[402017,"Acute myeloid leukemia with t(9;11)(p22;q23)",0,11,[2],[],8,2,18434,"KMT2A MLLT3",0,0],[402020,"Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)",0,11,[2],[],8,2,18435,"MECOM RPN1",0,0],[402023,"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)",0,11,[2],[],8,2,18436,"RBM15 MRTFA",0,0],[402026,"Acute myeloid leukemia with NPM1 somatic mutations",0,11,[2],[],8,1,18437,"NPM1",0,0],[402029,"Primary eosinophilic gastrointestinal disease",3,12,[],[],8,0,18438,"",0,0],[402035,"Eosinophilic colitis",0,12,[2],[1,6],5,0,18439,"",0,0],[402041,"Autosomal recessive distal renal tubular acidosis",2,13,[0],[1,2],6,4,18440,"ATP6V0A4 ATP6V1B1 WDR72 FOXI1",1,0],[402075,"Familial bicuspid aortic valve",6,3,[1],[0,1],8,5,7194,"NOTCH1 NKX2-5 GATA5 SMAD6 ROBO4",0,0],[402082,"Progressive myoclonic epilepsy type 5",0,1,[1],[5],5,2,11835,"POLG PRICKLE2",1,0],[402364,"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly",1,1,[0],[1],5,1,13351,"MED17",1,0],[402823,"Hepatitis delta",0,8,[2],[3],2,0,5789,"",0,0],[404437,"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome",1,1,[0],[0,1],5,1,14335,"QARS1",1,0],[404443,"Tatton-Brown-Rahman syndrome",1,3,[1],[0],5,1,14382,"DNMT3A",1,0],[404448,"Helsmoortel-Van der Aa syndrome",1,1,[4],[1,2],6,1,14379,"ADNP",1,0],[404451,"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome",1,3,[0],[0],5,1,18443,"FBLN1",0,0],[404454,"Alacrimia-choreoathetosis-liver dysfunction syndrome",0,13,[0],[0,1],5,1,800044,"NGLY1",1,0],[404463,"Multisystemic smooth muscle dysfunction syndrome",0,23,[4],[1],5,1,13452,"ACTA2",1,0],[404466,"Female infertility due to zona pellucida defect",0,20,[1,0],[6],5,3,14342,"ZP1 ZP2 ZP3",1,0],[404469,"Rare female infertility due to oocyte maturation defect",4,3,[],[],8,0,18444,"",0,0],[404473,"Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome",1,1,[4],[1],5,1,14035,"CTNNB1",1,0],[404476,"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome",1,3,[2],[1],5,1,18445,"DICER1",0,0],[404481,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome",3,1,[0],[],8,0,18446,"",0,0],[404493,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency",0,1,[0],[1,2],5,1,14846,"TDP2",1,0],[404499,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency",0,1,[0],[1],5,1,14311,"RUBCN",1,0],[404507,"Chondromyxoid fibroma",0,0,[2],[2,5,6,7],5,1,18447,"GRM1",0,0],[404511,"Clear cell papillary renal cell carcinoma",10,11,[2],[],8,4,18448,"MITF HNF1A TMEM127 PBRM1",0,0],[404514,"Acquired cystic disease-associated renal cell carcinoma",0,11,[2],[6,7],8,0,18449,"",0,0],[404521,"Spinal muscular atrophy with respiratory distress type 2",0,1,[4],[0],5,1,18450,"LAS1L",0,0],[404538,"X-linked distal hereditary motor neuropathy",4,1,[],[],8,0,18451,"",0,0],[404546,"DITRA",0,14,[0],[3],5,1,13626,"IL36RN",1,0],[404553,"Deficiency of adenosine deaminase 2",0,14,[0],[1,2],5,1,14306,"ADA2",1,0],[404560,"Familial atypical multiple mole melanoma syndrome",0,11,[1],[3],8,1,18453,"CDKN2A",0,0],[404568,"Dysostosis of genetic origin",4,3,[],[],8,0,18454,"",0,0],[404571,"Dysostosis of genetic origin with limb anomaly as a major feature",4,3,[],[],8,0,18455,"",0,0],[404574,"Genetic syndrome with limb reduction defects",4,3,[],[],8,0,0,"",0,0],[404577,"Genetic syndrome with limb malformations as a major feature",4,3,[],[],8,0,0,"",0,0],[404580,"Polyarticular juvenile idiopathic arthritis",3,14,[],[],8,0,18456,"",0,0],[404584,"Rare genetic bone development disorder",4,3,[],[],8,0,18457,"",0,0],[411493,"Pontocerebellar hypoplasia type 10",2,3,[0],[0],5,1,14349,"CLP1",1,0],[411501,"Williams-Campbell syndrome",6,3,[2],[2,6],8,0,8888,"",0,0],[411511,"Angelman syndrome due to a point mutation",7,1,[2],[1],8,1,18461,"UBE3A",0,0],[411515,"Angelman syndrome due to imprinting defect in 15q11-q13",7,1,[2],[1],8,3,18462,"SNRPN UBE3A ATP10A",0,0],[411536,"Mild phosphoribosylpyrophosphate synthetase superactivity",2,2,[5],[5,6],8,1,18463,"PRPS1",0,0],[411543,"Severe phosphoribosylpyrophosphate synthetase superactivity",2,2,[5],[0,1,2],5,1,18464,"PRPS1",0,0],[411590,"Wolfram-like syndrome",0,3,[1],[2],8,1,13673,"WFS1",1,0],[411593,"Insulin autoimmune syndrome",0,15,[2],[6,7],5,0,18465,"",0,0],[411602,"Hereditary late-onset Parkinson disease",0,1,[1],[6,7],6,7,8199,"SNCA GBA1 LRRK2 GIGYF2 EIF4G1 VPS35 DNAJC13",2,0],[411629,"Infantile nephropathic cystinosis",2,2,[0],[1],4,1,18467,"CTNS",0,0],[411634,"Juvenile nephropathic cystinosis",2,2,[0],[2,5],5,1,9066,"CTNS",1,0],[411641,"Ocular cystinosis",2,2,[0],[6],8,1,9064,"CTNS",1,0],[411703,"Pulmonary non-tuberculous mycobacterial infection",0,8,[2],[3],3,0,18469,"",0,0],[411709,"Renal agenesis",6,3,[1,0],[4,0],2,0,18470,"",2,0],[411712,"Maternal riboflavin deficiency",0,2,[1],[6],5,1,14013,"SLC52A1",1,0],[411777,"Generalized eruptive keratoacanthoma",0,5,[2],[6,7],5,0,18471,"",0,0],[411788,"Familial isolated trichomegaly",0,5,[0],[0],5,1,18472,"FGF5",0,0],[411986,"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome",1,1,[0],[1],5,1,14371,"DOCK7",1,0],[412022,"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome",1,10,[0],[2,5],5,1,11106,"ASPH",1,0],[412035,"13q12.3 microdeletion syndrome",1,3,[4],[0],5,0,18474,"",0,0],[412057,"Autosomal recessive cerebellar ataxia due to STUB1 deficiency",0,1,[0],[2,5,6],5,1,14339,"STUB1",1,0],[412066,"PRKAR1B-related neurodegenerative dementia with intermediate filaments",0,1,[1],[6],5,1,18475,"PRKAR1B",0,0],[412069,"AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome",1,1,[1],[0],5,1,14358,"AHDC1",1,0],[412181,"Epidermolysis bullosa simplex due to BP230 deficiency",0,5,[0],[6],5,1,14180,"DST",1,0],[412189,"Epidermolysis bullosa simplex due to exophilin 5 deficiency",0,5,[0],[2],5,1,14014,"EXPH5",1,0],[412206,"Primary failure of tooth eruption",0,6,[1],[],5,1,7434,"PTH1R",1,0],[412217,"Dystonia-aphonia syndrome",0,1,[1],[1,2,5,6],5,0,18476,"",0,0],[414726,"Genetic facial cleft",4,3,[],[],8,0,33056,"",0,0],[415286,"Bilirubin encephalopathy",3,1,[2],[0,1],6,0,18477,"",0,0],[418945,"Carcinoma of esophagus, salivary gland type",0,11,[2],[6,7],5,0,18480,"",0,0],[418951,"Undifferentiated carcinoma of esophagus",0,11,[2],[6,7],5,0,18481,"",0,0],[418959,"Squamous cell carcinoma of the stomach",0,11,[2],[6,7],4,0,6230,"",0,0],[420179,"Malan overgrowth syndrome",1,3,[1,4],[1],5,1,13885,"NFIX",1,0],[420259,"Secondary pulmonary alveolar proteinosis",0,9,[2],[],8,0,18483,"",0,0],[420402,"Semicircular canal dehiscence syndrome",9,18,[2],[3],8,0,18484,"",0,0],[420429,"Glycogen storage disease due to acid maltase deficiency, late-onset",2,2,[0],[5,6],3,1,18485,"GAA",0,0],[420485,"Cranio-cervical dystonia with laryngeal and upper-limb involvement",0,1,[1],[2,5,6],8,1,14019,"ANO3",1,0],[420492,"Adult-onset cervical dystonia, DYT23 type",0,1,[1],[6],5,1,13928,"CIZ1",1,0],[420556,"Visual snow syndrome",0,10,[2],[],8,0,18486,"",0,0],[420561,"Temple-Baraitser syndrome",0,3,[1],[0,1],5,1,12735,"KCNH1",1,0],[420566,"Bleeding disorder due to CalDAG-GEFI deficiency",0,4,[0],[1],5,1,14386,"RASGRP2",1,0],[420573,"EBV-induced lymphoproliferative disease due to CTPS1 deficiency",0,16,[0],[0,1,2],5,1,14391,"CTPS1",1,0],[420584,"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome",1,3,[1],[4,0],5,1,14369,"GLI2",1,0],[420611,"Transient myeloproliferative syndrome",0,4,[2],[4,0],8,1,8040,"GATA1",0,0],[420686,"Woolly hair-palmoplantar keratoderma syndrome",0,5,[0],[0,1,2],7,1,14492,"KANK2",0,0],[420699,"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency",0,16,[0],[0,1],5,1,18487,"CXCR2",1,0],[420702,"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency",0,16,[0],[0,1],5,1,14865,"CSF3R",2,0],[420728,"Combined oxidative phosphorylation defect type 20",0,2,[0],[1],5,1,14397,"VARS2",1,0],[420733,"Combined oxidative phosphorylation defect type 21",0,2,[0],[0],5,1,14398,"TARS2",1,0],[420741,"RIDDLE syndrome",1,16,[0],[1,5],5,1,12764,"RNF168",1,0],[420755,"Rare genetic odontal or periodontal disorder",4,6,[],[],8,0,18488,"",0,0],[420789,"Autoimmune encephalopathy with parasomnia and obstructive sleep apnea",0,1,[2],[6,7],5,0,18489,"",0,0],[420794,"Cono-spondylar dysplasia",1,0,[0],[4,0,1],5,0,18490,"",0,0],[422526,"Hereditary clear cell renal cell carcinoma",0,11,[4],[6],6,7,18492,"RNF139 FHIT FLCN HSPBAP1 DIRC3 OGG1 SLC49A4",0,0],[423275,"Spinocerebellar ataxia type 40",0,1,[1],[6],5,1,14475,"CCDC88C",1,0],[423296,"Spinocerebellar ataxia type 38",0,1,[1],[6],5,1,14417,"ELOVL5",1,0],[423306,"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome",1,3,[0],[0,1],5,1,18494,"QARS1",0,0],[423384,"Severe congenital neutropenia due to JAGN1 deficiency",0,16,[0],[0,1],5,1,14456,"JAGN1",1,0],[423454,"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome",0,3,[0],[1],5,1,14460,"GRHL2",1,0],[423461,"Mucolipidosis type III alpha/beta",2,2,[0],[0,1,2,5,6],2,1,18931,"GNPTAB",1,0],[423470,"Mucolipidosis type III gamma",2,2,[0],[],6,1,9652,"GNPTG",1,0],[423479,"X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency",0,2,[5],[4,0],5,1,18495,"PRPS1",0,0],[423655,"ARX-related encephalopathy-brain malformation spectrum",3,3,[],[4,0,1,2],8,0,18496,"",0,0],[423662,"Rare autonomic nervous system disorder",4,1,[],[],8,0,18497,"",0,0],[423693,"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect",2,3,[3],[],8,0,18498,"",0,0],[423712,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",2,3,[3],[],8,0,18499,"",0,0],[423717,"Cutaneous larva migrans",0,8,[2],[3],6,0,18500,"",0,0],[423771,"Rare carcinoma of stomach",4,11,[],[],8,0,18501,"",0,0],[423776,"Hereditary gastric cancer",4,11,[],[],8,0,18502,"",0,0],[423786,"Undifferentiated carcinoma of stomach",0,11,[2],[6],4,0,18504,"",0,0],[423793,"Rare tumor of small intestine",4,11,[],[],8,0,18505,"",0,0],[423798,"Mesenchymal tumor of small intestine",4,11,[],[],8,0,18506,"",0,0],[423894,"Microcephaly-complex motor and sensory axonal neuropathy syndrome",0,1,[0],[4,0,1],5,1,18507,"VRK1",0,0],[423957,"Rare carcinoma of small intestine",4,11,[],[],8,0,18508,"",0,0],[423968,"Squamous cell carcinoma of the small intestine",0,11,[2],[6,7],5,0,18509,"",0,0],[423975,"Neuroendocrine tumor of the small intestine",4,11,[],[],8,0,18510,"",0,0],[423982,"Epithelial tumor of the appendix",4,11,[],[],8,0,18511,"",0,0],[423991,"Rare epithelial tumor of colon",4,11,[],[],8,0,18512,"",0,0],[423994,"Squamous cell carcinoma of the colon",0,11,[2],[6],5,0,18513,"",0,0],[423998,"Rare epithelial tumor of rectum",4,11,[],[],8,0,18514,"",0,0],[424002,"Squamous cell carcinoma of the rectum",0,11,[2],[6],4,0,18515,"",0,0],[424010,"Epithelial tumor of anal canal",4,11,[],[],8,0,18516,"",0,0],[424013,"Carcinoma of the anal canal",3,11,[],[],8,0,7108,"",0,0],[424016,"Adenocarcinoma of the anal canal",0,11,[2],[6],4,0,2735,"",0,0],[424019,"Squamous cell carcinoma of the anal canal",0,11,[2],[6],4,0,4132,"",0,0],[424027,"Progressive myoclonic epilepsy type 8",0,1,[0],[2,5],5,1,14545,"CERS1",1,0],[424033,"Rare epithelial tumor of pancreas",4,11,[],[],8,0,18520,"",0,0],[424039,"Squamous cell carcinoma of pancreas",0,11,[2],[6],5,0,18521,"",0,0],[424046,"Acinar cell carcinoma of pancreas",0,11,[2],[6],5,0,6346,"",0,0],[424053,"Mucinous cystadenocarcinoma of the pancreas",0,11,[2],[6],5,0,18523,"",0,0],[424058,"Intraductal papillary mucinous carcinoma of pancreas",0,11,[2],[6],5,0,4285,"",0,0],[424065,"Pancreatic solid pseudopapillary neoplasm",0,11,[2],[6],5,0,18525,"",0,0],[424073,"Serous cystadenocarcinoma of pancreas",0,11,[2],[6],5,0,3630,"",0,0],[424080,"Undifferentiated carcinoma with osteoclast-like giant cells of pancreas",0,11,[2],[6],5,0,6479,"",0,0],[424099,"Colobomatous microphthalmia-rhizomelic dysplasia syndrome",1,0,[1,0],[4,0],5,1,14380,"MAB21L2",1,0],[424107,"Congenital myopathy with myasthenic-like onset",0,1,[0],[0,1],5,1,18528,"RYR1",1,0],[424261,"TOR1AIP1-related limb-girdle muscular dystrophy",0,1,[0],[2,5],5,1,14900,"TOR1AIP1",1,0],[424925,"Qualitative or quantitative defects of Torsin-1A-interacting protein 1",4,1,[],[],8,0,18529,"",0,0],[424933,"Rare malignant epithelial tumor of liver and intrahepatic biliary tract",4,11,[],[],8,0,18530,"",0,0],[424936,"Carcinoma of liver and intrahepatic biliary tract",4,11,[],[],8,0,18531,"",0,0],[424943,"Adenocarcinoma of the liver and intrahepatic biliary tract",0,11,[2],[6],4,0,18532,"",0,0],[424970,"Undifferentiated carcinoma of liver and intrahepatic biliary tract",0,11,[2],[6],5,0,18533,"",0,0],[424975,"Squamous cell carcinoma of liver and intrahepatic biliary tract",0,11,[2],[6],5,0,18534,"",0,0],[424982,"Biliary cystadenocarcinoma",0,11,[2],[6],5,0,18535,"",0,0],[424991,"Adenocarcinoma of the gallbladder and extrahepatic biliary tract",0,11,[2],[6],3,0,18536,"",0,0],[424996,"Squamous cell carcinoma of gallbladder and extrahepatic biliary tract",0,11,[2],[6],5,0,18537,"",0,0],[425003,"Inherited digestive cancer-predisposing syndrome",4,12,[],[],8,0,18538,"",0,0],[425120,"STING-associated vasculopathy with onset in infancy",0,14,[1],[1],5,1,14405,"STING1",1,0],[425368,"Rare epithelial tumor of small intestine",4,11,[],[],8,0,18539,"",0,0],[431140,"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome",1,3,[5],[4,0],5,0,10485,"",0,0],[431149,"Combined immunodeficiency due to OX40 deficiency",0,16,[0],[2],5,1,14268,"TNFRSF4",0,0],[431156,"Primary immunodeficiency with predisposition to severe viral infection",4,16,[],[],8,0,18545,"",0,0],[431166,"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",0,16,[0],[1],5,2,14715,"STAT2 IFNAR2",1,0],[431255,"Scapuloperoneal spinal muscular atrophy",0,1,[1],[0,1,2],5,1,8408,"TRPV4",1,0],[431263,"Late-onset scapuloperoneal muscular dystrophy with hyaline bodies",3,1,[],[],8,0,18549,"",0,0],[431272,"X-linked scapuloperoneal muscular dystrophy",0,1,[7],[6],5,1,10400,"FHL1",0,0],[431320,"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder",3,1,[],[],8,0,18550,"",0,0],[431329,"Autosomal recessive spastic paraplegia type 57",0,1,[0],[1],5,1,14295,"TFG",1,0],[431341,"Patent urachus",6,3,[2],[0],3,0,18551,"",0,0],[431344,"Urachal sinus",6,3,[2],[0,1],8,0,18552,"",0,0],[431347,"Urachal diverticulum",6,3,[2],[],8,0,18553,"",0,0],[431353,"Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis",4,9,[],[3],5,0,18554,"",1,0],[431361,"Progressive encephalopathy with leukodystrophy due to DECR deficiency",0,1,[0],[0,1],5,1,14464,"NADK2",1,0],[434179,"Orofaciodigital syndrome type 14",1,3,[0],[4,0],5,1,14413,"C2CD3",1,0],[434786,"Rare genetic autonomic nervous system disorder",4,1,[],[],8,0,18557,"",0,0],[434809,"Syndrome with woolly hair",4,5,[],[0],8,0,18558,"",0,0],[435329,"Familial ossifying fibroma",0,0,[1],[2,5,6],6,0,7660,"",0,0],[435365,"Fetal lower urinary tract obstruction",3,3,[],[],8,0,18559,"",0,0],[435372,"Anterior urethral valve",6,3,[2],[4,0,1,2,5],8,0,18560,"",0,0],[435387,"Autosomal dominant Charcot-Marie-Tooth disease type 2Y",0,1,[1],[2,6],5,1,14735,"VCP",1,0],[435438,"Progressive myoclonic epilepsy type 7",0,1,[1],[2],5,1,14521,"KCNC1",1,0],[435554,"Genetic precocious puberty",4,15,[],[],8,0,33329,"",0,0],[435561,"Rare precocious puberty in female",4,15,[],[],8,0,18561,"",0,0],[435564,"Genetic precocious puberty in female",4,15,[],[],8,0,33331,"",0,0],[435603,"Genetic otorhinolaryngological malformation",4,3,[],[],8,0,18562,"",0,0],[435606,"Genetic nose and cavum anomaly",4,3,[],[],8,0,33334,"",0,0],[435609,"Genetic larynx anomaly",4,3,[],[],8,0,33335,"",0,0],[435612,"Genetic tracheal anomaly",4,3,[],[],8,0,33336,"",0,0],[435628,"Keppen-Lubinsky syndrome",1,15,[1,2],[0],5,1,13572,"KCNJ6",2,0],[435638,"Proximal 3p25.3 microdeletion syndrome",1,1,[2],[0,1],5,2,18564,"SLC6A1 SLC6A11",0,0],[435651,"CIDEC-related familial partial lipodystrophy",0,15,[0],[5],5,1,14098,"CIDEC",1,0],[435660,"LIPE-related familial partial lipodystrophy",0,15,[0],[6],5,1,14431,"LIPE",1,0],[435743,"Congenital urachal anomaly",4,3,[],[4,0],8,0,18565,"",0,0],[435804,"Short stature-advanced bone age-early-onset osteoarthritis syndrome",0,0,[1],[2,5],5,1,18566,"ACAN",0,0],[435819,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation",0,1,[1],[6],5,1,18567,"TFG",0,0],[435845,"Lethal neonatal spasticity-epileptic encephalopathy syndrome",1,1,[0],[0],5,1,13784,"BRAT1",1,0],[435930,"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome",0,3,[0],[0],5,1,8927,"SIX6",1,0],[435934,"COG2-CDG",0,2,[0],[1],5,1,54559,"COG2",1,0],[435938,"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome",1,3,[5],[4,0],5,1,18569,"RPL10",0,0],[435953,"Progeroid features-hepatocellular carcinoma predisposition syndrome",0,3,[0],[2,5],5,1,14527,"SPRTN",1,0],[435988,"Chronic atrial and intestinal dysrhythmia syndrome",0,12,[0],[2,5,6],5,1,14528,"SGO1",1,0],[435998,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D",0,1,[0],[2],5,1,14467,"COX6A1",1,0],[436003,"Contractures-developmental delay-Pierre Robin syndrome",1,3,[4],[4,0],5,0,18571,"",0,0],[436141,"HIDEA syndrome",1,3,[0],[0,1],5,1,18572,"P4HTM",0,0],[436144,"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome",0,15,[1],[4,0],5,1,18573,"CDKN1C",0,0],[436151,"Intellectual disability-expressive aphasia-facial dysmorphism syndrome",1,1,[],[],8,1,18574,"SETBP1",0,0],[436159,"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency",0,16,[1],[2,5,6],5,1,14493,"CTLA4",1,0],[436166,"Periodic fever-infantile enterocolitis-autoinflammatory syndrome",0,14,[1],[0],5,1,14472,"NLRC4",1,0],[436169,"Thrombomodulin-related bleeding disorder",0,4,[1],[3],5,1,13775,"THBD",1,0],[436174,"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome",0,15,[0],[1,2],5,1,14455,"IARS2",1,0],[436182,"Microcephalic primordial dwarfism-insulin resistance syndrome",1,3,[0],[0,1,2],5,2,18575,"NSMCE2 XRCC4",0,0],[436242,"Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease",0,7,[1],[6],5,1,980715,"TNNI3K",0,0],[436245,"Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome",0,10,[0],[2],5,1,14495,"RDH11",1,0],[436252,"Combined immunodeficiency-multiple intestinal atresia",0,3,[0],[0],5,2,30831,"TTC7A PI4KA",1,0],[436271,"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy",0,1,[0],[2],8,1,18576,"COA8",0,0],[436274,"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa",0,10,[0],[2,5,6],5,1,18577,"GGCX",0,0],[437552,"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity",0,16,[0],[0,1,2],5,1,14313,"FCGR3A",1,0],[438072,"Disorder of keton body transport",4,2,[],[],8,0,18579,"",0,0],[438075,"Ketoacidosis due to monocarboxylate transporter-1 deficiency",0,2,[1,0],[1,2],5,1,14490,"SLC16A1",1,0],[438114,"RARS-related autosomal recessive hypomyelinating leukodystrophy",0,1,[0],[0,1],5,1,14506,"RARS1",1,0],[438117,"Steel syndrome",0,0,[0],[0,1],5,1,14061,"COL27A1",1,0],[438134,"PCNA-related progressive neurodegenerative photosensitivity syndrome",0,3,[0],[0,1],5,1,14399,"PCNA",0,0],[438159,"STAT3-related early-onset multisystem autoimmune disease",0,16,[1],[1,2],5,1,14414,"STAT3",1,0],[438178,"Fatty acyl-CoA reductase 1 deficiency",0,2,[0],[0,1],5,1,14510,"FAR1",1,0],[438207,"Severe autosomal recessive macrothrombocytopenia",0,4,[0],[1],5,2,14518,"GNE PRKACG",0,0],[438213,"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome",0,1,[1,2,4],[0,1],5,0,18580,"",0,0],[438216,"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation",7,1,[1,2],[0,1],5,1,14512,"PURA",1,0],[438266,"Progressive encephalomyelitis with rigidity and myoclonus",2,1,[2],[1,6],8,0,18581,"",0,0],[438274,"GCGR-related hyperglucagonemia",0,24,[0],[6],5,1,18582,"GCGR",1,0],[438279,"Human infection by orthopoxvirus",0,8,[2],[3],5,0,18583,"",0,0],[439167,"Placental insufficiency",9,19,[2],[6],2,0,5919,"",0,0],[439175,"Pediatric arterial ischemic stroke",9,1,[2],[0,1,2,5],8,0,18585,"",0,0],[439196,"Zinc-responsive necrolytic acral erythema",5,5,[2],[3],8,0,18586,"",0,0],[439202,"Non-recovering obstetric brachial plexus lesion",0,1,[2],[],8,0,18587,"",0,0],[439212,"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome",0,1,[0],[0,1],5,1,13731,"MEGF10",1,0],[439218,"KCNQ2-related developmental and epileptic encephalopathy",0,1,[1],[0,1],5,1,13387,"KCNQ2",1,0],[439224,"ALECT2 amyloidosis",0,14,[2],[],8,0,18588,"",0,0],[439232,"AApoAIV amyloidosis",0,13,[2],[6],5,0,18589,"",0,0],[439246,"ABeta2M amyloidosis",3,14,[],[6],8,0,18590,"",0,0],[439254,"ITM2B amyloidosis",0,1,[1],[6],5,0,18591,"",0,0],[439729,"Cutaneous polyarteritis nodosa",2,14,[2],[],8,0,18592,"",0,0],[439737,"Primary polyarteritis nodosa",2,14,[2],[],8,0,18593,"",0,0],[439746,"Secondary polyarteritis nodosa",2,14,[2],[],8,0,18594,"",0,0],[439755,"Single-organ polyarteritis nodosa",2,14,[2],[],8,0,18595,"",0,0],[439762,"Systemic polyarteritis nodosa",2,14,[2],[],8,0,18596,"",0,0],[439822,"PDE4D haploinsufficiency syndrome",1,3,[4],[0,1],5,1,14298,"PDE4D",0,0],[439849,"Autosomal recessive severe congenital neutropenia",4,16,[0],[],8,0,28226,"",0,0],[439854,"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease",0,7,[2],[4,0],5,1,9867,"PRKAG2",1,0],[439881,"Plastic bronchitis",5,9,[2],[3],8,0,18597,"",0,0],[439897,"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome",1,3,[0],[4],5,1,14552,"KIF14",1,0],[440221,"Congenital oculomotor nerve palsy",0,10,[2],[0],8,0,18599,"",0,0],[440233,"Congenital abducens nerve palsy",0,10,[2],[0],8,0,18600,"",0,0],[440354,"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome",1,0,[1],[4,0],5,1,18601,"COL11A1",0,0],[440368,"Necrotizing soft tissue infection",0,8,[2],[3],8,0,18602,"",0,0],[440392,"Interstitial lung disease due to SP-C deficiency",0,9,[1],[0,1,2,5,6],5,1,18603,"SFTPC",1,0],[440402,"Interstitial lung disease due to ABCA3 deficiency",0,9,[0],[0,1,2],5,1,12582,"ABCA3",1,0],[440427,"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",0,9,[0],[1,2],5,1,14206,"MARS1",1,0],[440437,"Familial colorectal cancer Type X",0,11,[1],[6,7],8,10,18604,"BMPR1A BRCA2 CHEK2 ATM MUTYH SEMA4A POLE POLD1 RPS20 NPAT",0,0],[440701,"Disorders of pentose/polyol metabolism",4,2,[],[],8,0,18605,"",0,0],[440706,"Ribose-5-P isomerase deficiency",0,1,[0],[2],5,1,12073,"RPIA",1,0],[440713,"Isolated sedoheptulokinase deficiency",0,2,[0],[4,0],5,1,14969,"SHPK",1,0],[440727,"Combined hamartoma of the retina and retinal pigment epithelium",0,10,[2],[2],5,0,18607,"",0,0],[440731,"L-ferritin deficiency",8,4,[1,0],[2],5,2,14274,"FTL FTL",1,0],[440987,"Isolated agenesis of gallbladder",6,17,[2],[3],2,0,7642,"",0,0],[441434,"Syndromic hereditary optic neuropathy",4,10,[],[],8,0,18609,"",0,0],[441447,"Early-onset posterior subcapsular cataract",2,10,[1,0],[],8,5,18610,"CRYBB2 CHMP4B EPHA2 UNC45B LEMD2",0,0],[441452,"Early-onset lamellar cataract",2,10,[1],[],8,11,18611,"BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGC CRYGD HSF4 MIP CRYGS CRYGB",0,0],[442582,"AH amyloidosis",0,14,[2],[0],5,0,18613,"",0,0],[442835,"Non-specific early-onset epileptic encephalopathy",0,1,[1,0,2,5],[0,1],6,55,18614,"MDGA2 SCN1A CACNA1A ATP1A2 ATP1A3 GABRG2 FOXG1 SYNGAP1 AARS1 DHDDS SCN8A CACNA2D1 CLTC DEPDC5 NTRK2 SZT2 SYNJ1 NECAP1 HCN1 SLC13A5 KCNB1 DNM1 UFSP2 KCNA2 KCNA2 EEF1A2 CNKSR2 FGF12 UBA5 GRIN2D CACNA1B FBXO28 GABBR2 GABRB2 PACS2 SCN3A SLC1A2 AP3B2 ATP6V1A PARS2 YWHAG NUS1 PPP3CA CDK19 TRAK1 FZR1 GABRA5 CYFIP2 ACTL6B GABRA2 DALRD3 CELF2 SLC38A3 KCNC2 KCNH5",3,0],[443057,"Sporadic porphyria cutanea tarda",2,2,[3],[],8,1,8295,"HFE",0,0],[443062,"Familial porphyria cutanea tarda",2,2,[1],[],8,2,8296,"UROD HFE",1,0],[443070,"Hemicrania continua",0,1,[2],[],8,0,18615,"",0,0],[443073,"Charcot-Marie-Tooth disease type 2S",0,1,[0],[1,2,5,6],5,1,14511,"IGHMBP2",1,0],[443079,"Central serous chorioretinopathy",0,10,[2],[],8,0,18616,"",0,0],[443084,"Baroreflex failure",9,1,[2],[3],8,0,18617,"",0,0],[443087,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",0,3,[0],[0],5,2,13664,"AKR1C2 AKR1C4",0,0],[443090,"46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect",4,3,[],[],8,0,18618,"",0,0],[443095,"Hyperinsulinemic hypoglycaemia",4,15,[],[],8,0,5803,"",0,0],[443098,"Hyperostosis cranialis interna",0,0,[1],[2,5,6],5,0,7765,"",0,0],[443101,"Hypothalamic adipsic hypernatraemia syndrome",0,15,[2],[],8,0,18620,"",0,0],[443159,"Lymphoplasmacytic lymphoma without IgM production",0,11,[2],[],8,0,18621,"",0,0],[443162,"NDE1-related microhydranencephaly",1,1,[0],[4,0],5,1,11504,"NDE1",0,0],[443167,"NUT midline carcinoma",0,11,[2],[2,5,6,7],5,2,5563,"NUTM1 BRD4",0,0],[443173,"Postpartum psychosis",0,1,[2],[6],3,0,18623,"",0,0],[443180,"Spontaneous intracranial hypotension",0,1,[2],[2,5,6,7],3,0,18624,"",0,0],[443192,"Classic stiff person syndrome",2,1,[2],[6],8,0,18625,"",0,0],[443197,"X-linked erythropoietic protoporphyria",0,2,[7],[2],5,1,10420,"ALAS2",1,0],[443227,"Paratyphoid fever",0,8,[2],[3],8,0,18626,"",0,0],[443236,"Postural orthostatic tachycardia syndrome due to NET deficiency",0,1,[1],[6],5,1,11479,"SLC6A2",0,0],[443291,"HIV-associated cancer",5,11,[2],[],8,0,18628,"",0,0],[443804,"Focal stiff limb syndrome",2,1,[2],[6],6,0,18629,"",0,0],[443811,"PGM3-CDG",0,2,[0],[0,1,2],5,1,14353,"PGM3",1,0],[443909,"Hereditary nonpolyposis colon cancer",3,11,[],[],8,0,18630,"",0,0],[443950,"DNAJB2-related Charcot-Marie-Tooth disease type 2",0,1,[0],[6],5,1,14866,"DNAJB2",2,0],[443988,"Ventriculomegaly-cystic kidney disease",0,3,[0],[4],5,1,9063,"CRB2",1,0],[443995,"Mandibulofacial dysostosis with alopecia",1,3,[1,2],[0,1],5,1,14608,"EDNRA",1,0],[444002,"11q22.2q22.3 microdeletion syndrome",1,3,[2],[0,1],5,0,18632,"",0,0],[444013,"Combined oxidative phosphorylation defect type 23",0,2,[0],[0,1,2],5,1,14525,"GTPBP3",1,0],[444048,"46,XX ovarian dysgenesis-short stature syndrome",0,3,[0],[5],5,1,14520,"MCM9",1,0],[444051,"20q11.2 microdeletion syndrome",1,3,[2],[4,0],5,0,18633,"",0,0],[444069,"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",1,3,[0],[4],5,1,9477,"CENPF",1,0],[444072,"Cerebellar-facial-dental syndrome",1,3,[0],[4,0],5,1,14529,"BRF1",1,0],[444077,"Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome",1,3,[1,2],[4,0],5,1,14609,"AFF4",1,0],[444092,"Autoimmune interstitial lung disease-arthritis syndrome",0,14,[1],[1,2],5,1,14629,"COPA",1,0],[444099,"Autosomal dominant spastic paraplegia type 73",0,1,[1],[6],5,1,14568,"CPT1C",1,0],[444116,"Hereditary amyloidosis",4,14,[],[],8,0,18634,"",1,0],[444138,"Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome",0,5,[0],[1],5,1,14574,"CAST",1,0],[444316,"Idiopathic phalangeal acro-osteolysis",0,0,[2],[],8,0,18635,"",0,0],[444458,"Combined oxidative phosphorylation defect type 24",0,2,[0],[1],5,1,14547,"NARS2",1,0],[444463,"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency",0,14,[0],[1,2],5,1,18636,"TPP2",0,0],[444490,"Familial chylomicronemia syndrome",0,15,[0],[1,2,5,6],4,0,18637,"",0,0],[444916,"Pseudohypoaldosteronism",3,15,[],[],8,0,18638,"",0,0],[444941,"Caudal regression-sirenomelia spectrum",3,3,[],[],8,0,18639,"",0,0],[445018,"Syndromic autoimmune enteropathy due to LRBA deficiency",0,16,[0],[1,2],5,1,13863,"LRBA",1,0],[445038,"3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome",0,2,[0],[4,0],5,1,14561,"CLPB",1,0],[445062,"Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome",0,15,[0],[1,2,5],5,1,14523,"DNAJC3",1,0],[445110,"Limb-girdle muscular dystrophy due to POMK deficiency",0,1,[0],[1],5,1,14489,"POMK",0,0],[445197,"Secondary vasculitis",4,14,[],[],8,0,18640,"",0,0],[447731,"NIK deficiency",0,16,[0],[0,1],5,1,18642,"MAP3K14",1,0],[447737,"Combined immunodeficiency due to DOCK2 deficiency",0,16,[0],[0,1],5,1,14637,"DOCK2",1,0],[447740,"Aggressive periodontitis",0,16,[0],[5],8,1,18643,"FPR1",0,0],[447753,"Autosomal dominant spastic paraplegia type 9A",0,1,[1],[1,5,6],5,1,11006,"ALDH18A1",1,0],[447757,"Autosomal dominant spastic paraplegia type 9B",0,1,[1],[1,5,6],5,1,18644,"ALDH18A1",0,0],[447760,"Autosomal recessive spastic paraplegia type 9B",0,1,[0],[1,2],5,1,14702,"ALDH18A1",1,0],[447764,"IgG4-related sclerosing cholangitis",2,17,[2],[],8,0,18645,"",0,0],[447771,"Sclerosing cholangitis",3,17,[],[],8,0,18646,"",0,0],[447774,"Secondary sclerosing cholangitis",0,17,[2],[],8,0,18647,"",0,0],[447777,"Keratocystic odontogenic tumor",0,6,[2],[],8,0,18648,"",0,0],[447784,"Mitochondrial pyruvate carrier deficiency",0,2,[0],[0],5,1,13877,"MPC1",2,0],[447788,"Cerebral visual impairment",9,10,[2],[0,1],6,0,18649,"",0,0],[447795,"Lipoyl transferase 2 deficiency",8,2,[11],[8],8,0,18651,"",1,0],[447874,"Biological anomaly without phenotypic characterization",4,21,[],[],8,0,18652,"",0,0],[447877,"Polymerase proofreading-related polyposis",0,12,[1],[2],8,2,18653,"POLE POLD1",0,0],[447881,"Idiopathic dropped head syndrome",9,1,[2],[3],8,0,18654,"",0,0],[447893,"Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome",2,1,[0],[1,2],5,1,18655,"POLR3A",0,0],[447896,"Tremor-ataxia-central hypomyelination syndrome",2,1,[0],[1,2],5,1,18656,"POLR3A",0,0],[447954,"Combined oxidative phosphorylation defect type 25",0,2,[0],[0],5,1,14636,"MARS2",0,0],[447961,"Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome",0,3,[0],[1],5,1,18657,"SASH1",0,0],[447964,"Autosomal dominant Charcot-Marie-Tooth disease type 2V",0,1,[1],[5,6,7],5,1,14665,"NAGLU",1,0],[447974,"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",1,3,[0],[1],5,1,14689,"MYO18B",1,0],[447977,"Progressive scapulohumeroperoneal distal myopathy",0,1,[1],[1,2],5,1,14800,"ACTA1",0,0],[447980,"19p13.3 microduplication syndrome",1,3,[4],[4,0],5,1,18658,"NFIX",0,0],[447985,"Partial duplication of the short arm of chromosome 19 syndrome",4,3,[],[],8,0,18659,"",0,0],[447997,"Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",0,8,[0],[0,1],5,1,14725,"SLC1A4",1,0],[448010,"CAD-CDG",0,2,[0],[1],5,1,14647,"CAD",1,0],[448237,"Zika virus disease",0,8,[2],[3],2,0,18661,"",0,0],[448242,"Autosomal recessive brachyolmia",1,0,[0],[2],5,1,18662,"PAPSS2",0,0],[448251,"Progressive autosomal recessive ataxia-deafness syndrome",0,3,[0],[1,2,5],5,1,14572,"SLC9A1",1,0],[448264,"Isolated focal non-epidermolytic palmoplantar keratoderma",0,5,[1],[2],5,2,14622,"KRT16 TRPV3",0,0],[448267,"Regressive spondylometaphyseal dysplasia",1,0,[0],[0],5,1,18663,"LBR",1,0],[448270,"Ectopia cordis",6,31,[2],[4],4,0,18664,"",0,0],[448426,"Genetic primary orthostatic hypotension",4,1,[],[],8,0,21272,"",0,0],[449266,"Pleural empyema",5,9,[2],[3],2,0,18667,"",0,0],[449280,"Scedosporiosis",0,8,[2],[3],5,0,18668,"",0,0],[449285,"Snakebite envenomation",0,27,[2],[3],3,0,18669,"",0,0],[449395,"IgG4-related kidney disease",2,13,[2],[6,7],6,0,18671,"",0,0],[449400,"IgG4-related aortitis",2,24,[2],[6,7],6,0,18672,"",0,0],[449427,"IgG4-related pachymeningitis",2,1,[2],[6,7],6,0,18673,"",0,0],[449432,"IgG4-related submandibular gland disease",2,18,[2],[6,7],6,0,18674,"",0,0],[449563,"IgG4-related ophthalmic disease",2,10,[2],[6,7],6,0,18675,"",0,0],[449566,"Eosinophilic angiocentric fibrosis",0,14,[2],[6],5,0,18676,"",0,0],[450322,"Polyclonal hyperviscosity syndrome",9,4,[2],[5,6,7,3],8,0,18678,"",0,0],[451602,"Primary cutaneous plasmacytosis",0,5,[2],[6,7],5,0,18679,"",0,0],[451607,"Cutaneous pseudolymphoma",0,5,[2],[6,7],5,0,18680,"",0,0],[451612,"Familial congenital nasolacrimal duct obstruction",6,3,[0],[4,0],5,1,7871,"IGSF3",0,0],[453499,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome",1,3,[1,2],[4,0,1],5,0,18681,"",1,0],[453504,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation",7,3,[1,2],[0],5,1,14700,"HNRNPK",1,0],[453510,"Congenital insensitivity to pain with severe intellectual disability",0,1,[0],[0],5,1,18682,"CLTCL1",0,0],[453521,"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency",0,1,[0],[0,1],5,1,14503,"CWF19L1",1,0],[453533,"Polyendocrine-polyneuropathy syndrome",0,15,[0],[2],5,1,14497,"DMXL2",0,0],[454700,"Acquired Creutzfeldt-Jakob disease",3,1,[2],[3],8,0,18686,"",0,0],[454706,"Progressive muscular atrophy",0,1,[2],[6],8,0,18687,"",0,0],[454710,"Anti-p200 pemphigoid",0,5,[2],[6,7],5,0,18688,"",0,0],[454714,"Plasma cell leukemia",0,11,[2],[6,7],5,0,18689,"",0,0],[454718,"Holmes-Adie syndrome",0,10,[2],[6],3,0,18690,"",0,0],[454723,"Endometrioid carcinoma of ovary",0,11,[2],[6,7],4,0,6335,"",0,0],[454742,"Variably protease-sensitive prionopathy",0,1,[2],[],8,0,18692,"",0,0],[454745,"Kuru",0,1,[3,2],[3],5,1,6825,"PRNP",0,0],[454750,"Isolated tracheoesophageal fistula",6,3,[2],[0],3,0,18694,"",0,0],[454831,"Acute radiation syndrome",5,27,[2],[3],4,0,33938,"",0,0],[454836,"Avian influenza",0,8,[2],[3],5,0,18695,"",0,0],[454840,"NTHL1-related polyposis",0,12,[0],[6,7],8,1,14630,"NTHL1",1,0],[454887,"Corticobasal syndrome",0,1,[],[6,7],6,0,18696,"",0,0],[456298,"1p35.2 microdeletion syndrome",1,3,[2],[0],5,0,18697,"",0,0],[456312,"Infantile multisystem neurologic-endocrine-pancreatic disease",0,3,[0],[1],5,1,8000012,"PTRH2",1,0],[456318,"Hereditary sensory neuropathy-deafness-dementia syndrome",0,1,[1],[5,6],5,1,13584,"DNMT1",1,0],[456328,"X-linked myotubular myopathy-abnormal genitalia syndrome",0,3,[4],[4,0],5,2,10271,"MTM1 MAMLD1",0,0],[456333,"Hereditary neuroendocrine tumor of small intestine",0,11,[1],[],8,1,18698,"IPMK",0,0],[456369,"Polyglucosan body myopathy type 2",0,2,[0],[2,5,6,7],5,1,14526,"GYG1",1,0],[457050,"Autosomal dominant mitochondrial myopathy with exercise intolerance",0,1,[1],[1,2],5,1,14532,"CHCHD10",1,0],[457074,"Congenital nemaline myopathy",3,1,[],[],8,0,18701,"",0,0],[457077,"TAFRO syndrome",0,14,[2],[5,6,7],5,0,18702,"",0,0],[457083,"Isolated splenogonadal fusion",6,3,[11],[4,0],6,0,18703,"",0,0],[457088,"Predisposition to invasive fungal disease due to CARD9 deficiency",0,16,[0],[],8,1,8905,"CARD9",1,0],[457095,"Actinomycosis",0,8,[2],[3],6,0,5631,"",0,0],[457185,"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome",0,1,[0],[4,0,1],5,1,14562,"COQ4",1,0],[457193,"KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome",1,3,[1],[0,1],5,1,14558,"KAT6A",1,0],[457205,"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome",0,1,[0],[1],5,0,18705,"",0,0],[457212,"Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome",0,1,[0],[5,6],5,1,14559,"SLC6A17",1,0],[457223,"Syndromic sensorineural deafness due to combined oxidative phosphorylation defect",0,2,[0],[0],5,1,18706,"MRPS7",1,0],[457240,"X-linked intellectual disability-short stature-overweight syndrome",1,3,[5],[1,2,5],5,1,10496,"THOC2",1,0],[457246,"Clear cell sarcoma of kidney",0,11,[2],[1,2,5,6],8,6,5006,"BCOR TERT YWHAE NUTM2B NUTM2E IRX2",0,0],[457260,"X-linked intellectual disability-hypotonia-movement disorder syndrome",0,1,[7],[2,5],5,1,18709,"DDX3X",0,0],[457265,"Progressive myoclonic epilepsy type 9",0,1,[0],[2],5,1,14685,"LMNB2",1,0],[457279,"Houge-Janssens syndrome type 1",2,3,[1],[0,1],5,1,14602,"PPP2R5D",1,0],[457284,"Houge-Janssens syndrome type 2",2,3,[1],[0,1],5,1,14605,"PPP2R1A",1,0],[457351,"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome",1,3,[0],[0,1],5,1,14698,"AFG2A",1,0],[457359,"Megalencephaly-severe kyphoscoliosis-overgrowth syndrome",1,3,[0],[0],5,1,18710,"HERC1",0,0],[457365,"Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome",1,3,[4],[0,1],5,0,18711,"",0,0],[457375,"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement",0,1,[0],[0,1],5,1,14719,"ITPA",1,0],[457378,"Complex lethal osteochondrodysplasia",1,0,[0],[4],5,1,14821,"TAPT1",1,0],[457395,"Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome",1,0,[0],[0,1],5,1,14748,"RSPRY1",1,0],[457406,"Multiple mitochondrial dysfunctions syndrome type 4",0,2,[0],[1],5,1,14611,"ISCA2",1,0],[457485,"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome",1,3,[1],[0,1],5,1,14716,"MTOR",1,0],[458718,"Idiopathic spontaneous coronary artery dissection",0,7,[2],[6],8,0,7385,"",1,0],[458758,"Composite hemangioendothelioma",0,11,[2],[3],5,0,18712,"",0,0],[458763,"Retiform hemangioendothelioma",0,11,[2],[5,6],5,0,18713,"",0,0],[458768,"Papillary intralymphatic angioendothelioma",0,11,[2],[1,2,5,6,7],5,0,18714,"",0,0],[458775,"Congenital hemangioma",3,3,[],[],8,0,18715,"",2,0],[458785,"Partially involuting congenital hemangioma",0,3,[2],[4],8,0,18716,"",0,0],[458792,"Mixed macro and microcystic lymphatic malformation",2,3,[2],[0,1],8,0,18717,"",0,0],[458798,"Spinocerebellar ataxia type 41",0,1,[1],[6],5,1,14626,"TRPC3",1,0],[458803,"Spinocerebellar ataxia type 42",0,1,[1],[2,5,6,7],5,1,14776,"CACNA1G",1,0],[458830,"Rare capillary malformation with associated anomalies",4,3,[],[],8,0,18719,"",0,0],[458833,"Isolated lymphatic malformation",0,3,[],[],8,0,18720,"",0,0],[458837,"Rare combined vascular malformation",4,23,[],[],8,0,18721,"",0,0],[458844,"Rare vascular malformation of major vessels",4,3,[],[],8,0,18723,"",0,0],[459033,"Ataxia-oculomotor apraxia type 4",0,1,[0],[1,2],5,1,14557,"PNKP",1,0],[459051,"Spondyloepiphyseal dysplasia, Stanescu type",0,0,[1],[2],5,1,14701,"COL2A1",0,0],[459056,"Autosomal recessive spastic paraplegia type 75",0,1,[0],[2],5,1,14729,"MAG",1,0],[459061,"Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome",1,3,[0],[4,0],5,2,800438,"DPH1 DPH2",1,0],[459070,"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome",1,0,[5],[0,1],5,1,18724,"RPL10",0,0],[459074,"Corpus callosum agenesis-macrocephaly-hypertelorism syndrome",1,3,[4],[0,1],5,0,18725,"",0,0],[459345,"Immunodeficiency due to a complement cascade component deficiency",4,16,[],[],8,0,3832,"",0,0],[459348,"Immunodeficiency due to a complement regulatory deficiency",4,16,[],[],8,0,18727,"",0,0],[459526,"Rare genetic capillary malformation",4,3,[],[],8,0,18728,"",0,0],[459537,"Genetic complex vascular malformation with associated anomalies",4,3,[],[],8,0,33927,"",0,0],[459543,"Rare genetic vascular tumor",4,23,[],[],8,0,18729,"",0,0],[459548,"Rare genetic venous malformation",4,3,[],[],8,0,18730,"",0,0],[459787,"Lethal multiple congenital anomalies/dysmorphic syndrome",4,3,[],[],8,0,18731,"",0,0],[464282,"Spastic paraplegia-severe developmental delay-epilepsy syndrome",0,3,[0],[1],5,1,14764,"HACE1",1,0],[464288,"Short stature-brachydactyly-obesity-global developmental delay syndrome",1,3,[0],[4,0,1],5,1,14944,"PRMT7",1,0],[464306,"DYRK1A-related intellectual disability syndrome",1,3,[1,2,4],[1],5,0,13578,"",1,0],[464311,"Intellectual disability syndrome due to a DYRK1A point mutation",7,3,[1],[0,1],5,1,18733,"DYRK1A",0,0],[464318,"Verrucous venous malformation",0,23,[2],[0,1],6,0,18734,"",0,0],[464321,"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome",0,11,[2],[0,1],6,0,18735,"",0,0],[464329,"Kaposiform lymphangiomatosis",0,11,[2],[2],6,0,18736,"",0,0],[464336,"BENTA disease",0,16,[1],[1],5,1,14645,"CARD11",1,0],[464343,"Catastrophic antiphospholipid syndrome",0,14,[2],[6],6,0,18737,"",0,0],[464359,"Benign metanephric tumor",0,13,[2],[3],6,0,18738,"",0,0],[464366,"NEK9-related lethal skeletal dysplasia",1,0,[0],[4],5,1,14870,"NEK9",1,0],[464370,"Neonatal alloimmune neutropenia",0,16,[2],[0],2,1,18739,"FCGR3B",0,0],[464440,"Primary dystonia, DYT27 type",0,1,[0],[2,6],5,1,14627,"COL6A3",1,0],[464443,"COG6-CGD",0,2,[0],[0],5,1,13810,"COG6",1,0],[464453,"Acquired methemoglobinemia",0,4,[2],[3],6,0,18740,"",0,0],[464458,"Paracetamol poisoning",5,27,[2],[3],2,0,18741,"",0,0],[464724,"Fever-associated acute infantile liver failure syndrome",0,17,[0],[1],5,2,23,"NBAS RINT1",0,0],[464738,"Basel-Vanagaite-Smirin-Yosef syndrome",1,3,[0],[4,0,1],5,1,14643,"MED25",1,0],[464756,"Familial gastric type 1 neuroendocrine tumor",0,11,[0],[6],5,1,18742,"ATP4A",0,0],[464760,"Familial cavitary optic disc anomaly",6,10,[1],[5,6],5,1,12687,"MMP19",0,0],[464764,"Immune-mediated acquired neuromuscular junction disease",3,1,[],[],8,0,18743,"",0,0],[465508,"Symptomatic form of HFE-related hemochromatosis",0,2,[0],[6],6,2,34028,"HFE BMP6",0,0],[465824,"Fetal encasement syndrome",1,3,[0],[4],5,1,13334,"CHUK",1,0],[466026,"Class I glucose-6-phosphate dehydrogenase deficiency",0,4,[5],[0],5,1,10480,"G6PD",1,0],[466066,"Genetic hemoglobinopathy",4,4,[],[],8,0,34039,"",0,0],[466084,"Genetic otorhinolaryngologic disease",4,18,[],[],8,0,18751,"",0,0],[466650,"Exercise-induced malignant hyperthermia",0,1,[3],[3],6,1,18752,"RYR1",0,0],[466658,"Rare disease with malignant hyperthermia",4,1,[],[],8,0,18753,"",0,0],[466670,"Cyanide poisoning",5,27,[2],[3],6,0,18754,"",0,0],[466677,"Scorpion envenomation",0,27,[2],[3],6,0,18755,"",0,0],[466682,"Euthyroid Graves orbitopathy",0,10,[2],[],8,0,18756,"",0,0],[466688,"Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome",1,3,[0],[0],5,1,14787,"FRMD4A",1,0],[466695,"Supratip dysplasia",6,3,[2],[0],5,0,18757,"",0,0],[466703,"TMEM199-CDG",0,2,[0],[1,2,5],5,1,14790,"VMA12",1,0],[466718,"Martinique crinkled retinal pigment epitheliopathy",0,10,[1],[6],5,1,14920,"MAPKAPK3",1,0],[466722,"Autosomal recessive spastic paraplegia type 77",0,1,[0],[1,2],5,1,14882,"FARS2",1,0],[466729,"Familial patent arterial duct",6,3,[1],[],8,2,18758,"TFAP2B PRDM6",0,0],[466768,"Autosomal dominant Charcot-Marie-Tooth disease type 2Z",0,1,[1],[0,1,2,5,6],5,1,14736,"MORC2",1,0],[466775,"Autosomal recessive Charcot-Marie-Tooth disease type 2X",0,18,[0],[2,5,6],5,1,14726,"SPG11",1,0],[466784,"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect",0,3,[0],[0,1],5,1,14775,"SLC25A26",1,0],[466791,"Macrocephaly-intellectual disability-left ventricular non compaction syndrome",1,3,[5],[1],5,1,10501,"NONO",1,0],[466794,"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",0,1,[0],[1],5,1,14744,"SCYL1",1,0],[466806,"Autosomal dominant thrombocytopenia with platelet secretion defect",0,4,[1],[2],5,1,14830,"SLFN14",1,0],[466921,"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome",0,1,[0],[2],5,1,18759,"TTN",0,0],[466926,"Seizures-scoliosis-macrocephaly syndrome",0,2,[0],[1],5,1,14731,"EXT2",1,0],[466934,"VPS11-related autosomal recessive hypomyelinating leukodystrophy",0,1,[0],[1],5,1,14732,"VPS11",1,0],[466943,"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome",1,3,[1,2,4],[1,2],5,0,18760,"",1,0],[466950,"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation",2,3,[1,2],[1,2],5,1,14741,"WAC",1,0],[466962,"SMARCA4-deficient sarcoma of thorax",0,11,[2],[6],5,1,18761,"SMARCA4",0,0],[467166,"Tubulinopathy-associated dysgyria",0,3,[1,2],[1],5,3,18763,"TUBA1A TUBB2B TUBB3",0,0],[467176,"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome",0,1,[0],[0],5,1,14784,"CCDC174",0,0],[468620,"Intellectual disability-epilepsy-extrapyramidal syndrome",0,1,[0],[1],5,1,14952,"DEAF1",1,0],[468631,"Microcephalic cortical malformations-short stature due to RTTN deficiency",1,1,[0],[0,1],5,1,18764,"RTTN",1,0],[468635,"Cryptogenic multifocal ulcerous stenosing enteritis",0,12,[0],[2,5,6],5,1,18765,"PLA2G4A",0,0],[468641,"Chronic enteropathy associated with SLCO2A1 gene",0,12,[0],[2,5,6],5,1,18766,"SLCO2A1",0,0],[468661,"Autosomal recessive spastic paraplegia type 74",0,1,[0],[2],5,1,14644,"IBA57",0,0],[468666,"Isolated generalized anhidrosis with normal sweat glands",0,5,[0],[0],5,1,7118,"ITPR2",0,0],[468672,"Colobomatous macrophthalmia-microcornea syndrome",0,10,[1],[1,2,5,7],5,1,11239,"CRIM1",0,0],[468678,"White-Sutton syndrome",0,3,[1],[4,0,1],5,1,14606,"POGZ",1,0],[468684,"CCDC115-CDG",0,2,[0],[0,1],5,1,14789,"VMA22",2,0],[468699,"SLC39A8-CDG",0,2,[0],[0],5,1,14746,"SLC39A8",1,0],[468717,"Rhizomelic chondrodysplasia punctata type 5",7,0,[0],[0,1],5,1,14743,"PEX5",1,0],[468726,"Severe primary trimethylaminuria",0,2,[0],[1,2],6,1,18767,"FMO3",1,0],[471383,"Genetic lethal multiple congenital anomalies/dysmorphic syndrome",4,3,[],[],8,0,43009,"",0,0],[474347,"Rare congenital anomaly of ventricular septum",3,3,[],[],8,0,18771,"",0,0],[476084,"BVES-related limb-girdle muscular dystrophy",0,1,[0],[6],5,1,14782,"POPDC1",1,0],[476093,"HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",0,1,[1],[2,5,6],5,1,18773,"HSPB8",1,0],[476096,"Erythrokeratodermia-cardiomyopathy syndrome",0,5,[2],[0],5,1,14355,"DSP",1,0],[476109,"Axonal hereditary motor and sensory neuropathy",3,1,[],[],8,0,18775,"",0,0],[476113,"Combined immunodeficiency due to TFRC deficiency",0,16,[0],[1,2],5,1,14760,"TFRC",1,0],[476116,"Demyelinating hereditary motor and sensory neuropathy",3,1,[],[],8,0,18776,"",2,0],[476119,"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome",1,3,[1],[0],5,1,18777,"SHH",0,0],[476123,"Intermediate Charcot-Marie-Tooth disease",3,1,[],[],8,0,18778,"",0,0],[476126,"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome",1,3,[1],[0],5,1,14892,"TRIO",1,0],[476394,"PMP2-related Charcot-Marie-Tooth disease type 1",0,1,[1],[2,5],5,1,33135,"PMP2",1,0],[476403,"Hypercontractile muscle stiffness syndrome",3,1,[],[],8,0,18779,"",0,0],[476406,"Congenital generalized hypercontractile muscle stiffness syndrome",0,1,[1,2],[4,0],5,1,18780,"TPM3",0,0],[477647,"Type 1 interferonopathy",4,14,[],[],8,0,700264,"",0,0],[477650,"Fibroblastic rheumatism",0,14,[2],[2,5,6],5,0,18783,"",0,0],[477661,"IL21-related infantile inflammatory bowel disease",0,12,[0],[1],5,1,14338,"IL21",0,0],[477673,"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome",0,1,[0],[1],5,1,14567,"GPT2",1,0],[477684,"Combined oxidative phosphorylation defect type 26",0,2,[0],[1,2],5,1,14684,"TRMT5",1,0],[477738,"Pediatric multiple sclerosis",0,1,[2],[2,5],8,2,18784,"HLA-DRB1 HLA-DQB1",0,0],[477742,"Nodular fasciitis",0,5,[2],[3],6,2,4187,"MYH9 USP6",0,0],[477749,"Pontine autosomal dominant microangiopathy with leukoencephalopathy",0,1,[1],[6],5,1,32814,"COL4A1",1,0],[477754,"Genetic cerebral small vessel disease",4,1,[],[],8,0,18787,"",2,0],[477759,"COL4A1 or COL4A2-related cerebral small vessel disease",4,1,[],[],8,0,18788,"",1,0],[477762,"COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency",3,1,[],[],8,0,18789,"",0,0],[477765,"COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency",3,1,[],[],8,0,18790,"",0,0],[477768,"Moyamoya angiopathy",3,1,[],[],8,0,18791,"",0,0],[477771,"Rare disorder with a moyamoya angiopathy",4,1,[],[],8,0,18792,"",0,0],[477774,"Combined oxidative phosphorylation defect type 27",0,2,[0],[1,2],5,1,14728,"CARS2",1,0],[477781,"Primary condylar hyperplasia",0,25,[2],[3],6,0,18793,"",0,0],[477787,"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder",0,4,[0],[2],5,1,18794,"PLA2G4A",1,0],[477794,"Syndromic constitutional thrombocytopenia",4,4,[],[],8,0,18795,"",0,0],[477797,"Isolated constitutional thrombocytopenia",4,4,[],[],8,0,18796,"",0,0],[477805,"Genetic cardiac malformation",4,3,[],[],8,0,18797,"",0,0],[477808,"Other genetic dermis disorder",4,5,[],[],8,0,18798,"",0,0],[477811,"Rare hypercholesterolemia",4,15,[],[],8,0,18799,"",0,0],[477814,"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome",1,3,[0],[1],5,1,14714,"DIAPH1",1,0],[477817,"PMP22-RAI1 contiguous gene duplication syndrome",1,3,[4],[1,2],5,1,14723,"RAI1",0,0],[477831,"Kosaki overgrowth syndrome",1,0,[11],[1],5,1,14704,"PDGFRB",1,0],[477857,"Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency",0,16,[0],[1],5,1,14710,"RORC",1,0],[477993,"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome",1,3,[1,2],[0,1],5,1,14751,"KDM1A",1,0],[478029,"Combined oxidative phosphorylation defect type 29",0,2,[0],[1],5,1,14781,"TXN2",1,0],[478042,"Combined oxidative phosphorylation defect type 30",0,2,[0],[0],5,1,14856,"TRMT10C",1,0],[478049,"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome",0,2,[0],[1],5,1,14976,"MIPEP",1,0],[478664,"Hereditary sensory and autonomic neuropathy type 8",0,1,[0],[0],5,1,14662,"PRDM12",1,0],[480476,"Progressive familial intrahepatic cholestasis type 5",2,17,[0],[0],5,1,14884,"NR1H4",1,0],[480483,"Progressive familial intrahepatic cholestasis type 4",2,17,[0],[1,2],5,1,14381,"TJP2",1,0],[480491,"MYO5B-related progressive familial intrahepatic cholestasis",2,17,[0],[0],5,1,18804,"MYO5B",0,0],[480501,"Choledochal cyst",6,17,[2],[3],3,0,18805,"",0,0],[480506,"Primary intrahepatic lithiasis",0,17,[2],[],8,0,18806,"",0,0],[480512,"Idiopathic ductopenia",0,17,[2],[],5,0,18807,"",0,0],[480520,"Caroli syndrome",1,17,[0],[3],6,0,18808,"",0,0],[480524,"Idiopathic peliosis hepatis",0,3,[2],[2,6],6,0,18809,"",0,0],[480528,"Lethal hydranencephaly-diaphragmatic hernia syndrome",1,3,[0],[0],5,1,18810,"PLAT",0,0],[480531,"Congenital portosystemic shunt",6,3,[2],[3],3,0,18811,"",0,0],[480536,"MSH3-related polyposis",0,12,[0],[0],5,1,18812,"MSH3",1,0],[480541,"High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement",0,11,[2],[],8,3,18813,"BCL2 BCL6 MYC",0,0],[480549,"Non-severe combined immunodeficiency",3,16,[],[],8,0,18814,"",0,0],[480553,"Aneurysmal bone cyst",0,0,[2],[],8,0,18815,"",0,0],[480556,"Isolated neonatal sclerosing cholangitis",0,17,[0],[0],5,1,18816,"DCDC2",1,0],[480682,"POGLUT1-related limb-girdle muscular dystrophy R21",0,1,[0],[6],5,1,14977,"POGLUT1",1,0],[480701,"Facial diplegia with paresthesias",0,1,[2],[],8,0,18818,"",0,0],[480851,"Hereditary thrombocytopenia with early-onset myelofibrosis",0,4,[1],[0],5,1,14837,"SRC",1,0],[480864,"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome",0,1,[0],[1],5,1,18820,"TANGO2",1,0],[480880,"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability",1,3,[7],[4,0,1],5,1,18821,"USP9X",0,0],[480898,"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome",0,3,[1,0],[1,2],5,1,18822,"EMC1",0,0],[480907,"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome",1,3,[5],[4,0],5,1,10500,"TAF1",1,0],[481152,"PYCR2-related microcephaly-progressive leukoencephalopathy",1,3,[0],[1],5,1,14632,"PYCR2",1,0],[481508,"Gastroenteric neuroendocrine neoplasm",4,11,[],[],8,0,28618,"",0,0],[481662,"Familial Chilblain lupus",0,5,[1],[1,2],5,3,18827,"TREX1 SAMHD1 STING1",0,0],[481665,"Pseudo-TORCH syndrome type 2",0,1,[0],[4,0],5,1,18828,"USP18",1,0],[481671,"Type 1 interferonopathy of childhood",4,14,[],[],8,0,957408,"",1,0],[481771,"Genetic alopecia",4,5,[],[],8,0,21034,"",0,0],[481986,"Familial schizencephaly",7,3,[0],[4,0],8,1,18829,"COL4A1",0,0],[482072,"HTRA1-related cerebral small vessel disease",3,1,[],[],8,0,18831,"",0,0],[482077,"HTRA1-related autosomal dominant cerebral small vessel disease",0,1,[1],[6,7],5,1,18832,"HTRA1",1,0],[482092,"Rare idiopathic macular telangiectasia",4,10,[],[],8,0,18833,"",0,0],[482601,"Adenylosuccinate synthetase-like 1-related distal myopathy",0,1,[0],[2,5],5,1,14877,"ADSS1",1,0],[482606,"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome",1,3,[5],[0,1,2,5],5,1,44617,"FLNA",0,0],[485275,"Acquired schizencephaly",7,3,[],[],8,3,18839,"SHH SIX3 EMX2",0,0],[485350,"CLCN4-related X-linked intellectual disability syndrome",0,1,[7],[1,2],5,1,10250,"CLCN4",1,0],[485358,"Propylthiouracil embryofetopathy",1,3,[2],[4,0,1],8,0,44619,"",0,0],[485382,"Rare genetic premature ovarian failure",4,15,[],[],8,0,34443,"",0,0],[485405,"16p12.1p12.3 triplication syndrome",1,3,[],[4,0],5,0,44621,"",0,0],[485418,"EMILIN-1-related connective tissue disease",0,1,[1],[6],5,1,44622,"EMILIN1",0,0],[485421,"MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect",7,1,[0],[1],5,1,14905,"MFF",1,0],[485426,"Isolated congenital hepatic fibrosis",0,17,[2],[0],8,0,18840,"",0,0],[485631,"Congenital bile acid synthesis defect",3,17,[],[],8,0,18841,"",0,0],[486811,"Prenatal-onset spinal muscular atrophy with congenital bone fractures",0,3,[0],[4],5,2,209,"ASCC1 TRIP4",1,0],[486815,"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome",0,1,[0],[0],5,1,14896,"TRIP4",1,0],[486955,"Rare pediatric rheumatologic disease",4,14,[],[],8,0,0,"",0,0],[487796,"Takenouchi-Kosaki syndrome",1,4,[1],[0],5,1,14757,"CDC42",1,0],[487809,"Pediatric collagenous gastritis",0,12,[2],[1,2,5],5,0,44624,"",0,0],[487814,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation",0,1,[1],[2],5,1,44625,"DGAT2",0,0],[487825,"Pierpont syndrome",1,3,[1],[0,1],5,1,11213,"TBL1XR1",1,0],[488168,"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome",1,2,[0],[1],5,1,14793,"MSMO1",1,0],[488191,"Female infertility due to oocyte meiotic arrest",0,20,[0],[5,6],6,15,44626,"KPNA7 NLRP2 NLRP5 MOS CHEK1 PADI6 FBXO43 PATL2 TUBB8 WEE2 PANX1 ZFP36L2 TLE6 CDC20 NLRP7",2,0],[488197,"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome",0,10,[1],[1,2],5,1,14747,"MIR204",1,0],[488232,"Split-foot malformation-mesoaxial polydactyly syndrome",1,3,[0],[0],5,1,14816,"MAP3K20",1,0],[488239,"Acute macular neuroretinopathy",0,10,[2],[5,6],5,0,44627,"",0,0],[488265,"Osteofibrous dysplasia",0,0,[1],[1,2],8,1,11806,"MET",0,0],[488280,"14q32 duplication syndrome",0,11,[],[6],5,0,14707,"",0,0],[488333,"Autosomal dominant Charcot-Marie-Tooth disease type 2W",0,1,[1],[2,5,6],5,1,14711,"HARS1",1,0],[488434,"Camptodactyly syndrome, Guadalajara type 3",1,3,[],[0],5,0,12759,"",0,0],[488437,"SIX2-related frontonasal dysplasia",1,3,[1],[0],5,1,44628,"SIX2",0,0],[488586,"Congenital amyoplasia",1,3,[2],[],8,0,44629,"",0,0],[488594,"Autosomal recessive spastic paraplegia type 76",0,1,[0],[6],5,1,14827,"CAPN1",1,0],[488613,"Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome",1,1,[1],[1,2],5,1,14855,"GNB1",1,0],[488618,"Transketolase deficiency",1,2,[0],[0,1],5,1,14881,"TKT",1,0],[488627,"Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome",1,3,[0],[1],5,1,14886,"PUS3",1,0],[488632,"TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome",1,3,[0],[0,1],5,1,14823,"TBCK",1,0],[488635,"Early-onset epilepsy-intellectual disability-brain anomalies syndrome",0,2,[0],[0],5,1,14832,"PIGG",1,0],[488642,"TELO2-related intellectual disability-neurodevelopmental disorder",1,3,[0],[0],5,1,14848,"TELO2",1,0],[488647,"DDX41-related hematologic malignancy predisposition syndrome",0,11,[3],[6,7],5,1,14809,"DDX41",1,0],[488650,"Distal myopathy, Tateyama type",0,1,[1],[6],5,1,13686,"CAV3",0,0],[493342,"Vibratory urticaria",0,5,[1],[3],5,1,7447,"ADGRE2",0,0],[494344,"RERE-related neurodevelopmental syndrome",1,3,[1],[4,0],5,1,14857,"RERE",1,0],[494418,"Vulvar carcinoma",0,11,[2],[6,7],4,0,5215,"",0,0],[494421,"Sacrococcygeal teratoma",2,3,[2],[3],8,0,42727,"",0,0],[494424,"Extracranial carotid artery aneurysm",6,3,[2],[6,7],6,0,44632,"",0,0],[494428,"Idiopathic pleuroparenchymal fibroelastosis",0,9,[2],[5,6,7],5,0,44633,"",0,0],[494433,"MIRAGE syndrome",0,15,[1],[4,0],5,1,14888,"SAMD9",1,0],[494439,"Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome",1,3,[0],[1,2],5,1,44634,"EXOSC2",1,0],[494444,"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome",0,18,[1],[0,1,2],5,1,44635,"DIAPH1",1,0],[494448,"Vulvar squamous cell carcinoma",10,11,[2],[6,7],8,0,24609,"",0,0],[494451,"Vulvar basal cell carcinoma",10,11,[2],[6,7],8,0,2955,"",0,0],[494454,"Vulvar adenocarcinoma",10,11,[2],[6,7],8,0,24336,"",0,0],[494457,"Rare hyperkinetic movement disorder",4,1,[],[],8,0,44636,"",0,0],[494526,"Infantile-onset generalized dyskinesia with orofacial involvement",0,1,[0],[1],5,1,44637,"PDE10A",1,0],[494541,"Childhood-onset benign chorea with striatal involvement",0,1,[1],[2],5,1,44332,"PDE10A",0,0],[494547,"Squamous cell carcinoma of the hypopharynx",0,11,[2],[6,7],3,3,44638,"PTEN ING1 TNFRSF10B",0,0],[494550,"Squamous cell carcinoma of the larynx",0,11,[2],[2,5,6,7],3,3,5595,"PTEN ING1 TNFRSF10B",0,0],[495274,"Charcot-Marie-Tooth disease type 2T",0,1,[0],[6],5,1,44640,"MME",1,0],[495818,"9q33.3q34.11 microdeletion syndrome",1,3,[2],[1,2],5,2,44641,"LMX1B STXBP1",0,0],[495844,"C11ORF73-related autosomal recessive hypomyelinating leukodystrophy",0,1,[0],[1],5,1,44642,"HIKESHI",1,0],[495875,"Cerebello-oculo-facio-genital syndrome",1,3,[0],[0],5,1,44643,"MAB21L1",0,0],[495879,"Congenital agenesis of the scrotum",6,3,[2],[0],5,0,44644,"",0,0],[495930,"Familial monosomy 7 syndrome",0,11,[1],[1,2],5,0,44645,"",0,0],[496641,"Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome",1,3,[0],[0,1],5,1,44646,"TBCD",2,0],[496686,"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome",0,1,[0],[0,1,2],5,1,44647,"KY",0,0],[496689,"Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome",0,1,[0],[0,1],5,1,44648,"KY",0,0],[496693,"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome",1,3,[],[4,0],5,0,44649,"",0,0],[496751,"EVEN-plus syndrome",1,3,[0],[4],5,1,14801,"HSPA9",1,0],[496756,"Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome",0,1,[0],[0,1],5,1,44651,"TBCE",0,0],[496790,"Ocular anomalies-axonal neuropathy-developmental delay syndrome",0,1,[1],[0,1],5,1,14958,"ATAD3A",1,0],[496916,"Rare genetic hyperkinetic movement disorder",4,1,[],[],8,0,34641,"",0,0],[496924,"Non-inflammatory vasculopathy",4,23,[],[],8,0,24471,"",0,0],[497623,"C12ORF65-related combined oxidative phosphorylation defect",3,2,[],[3],5,0,44655,"",0,0],[497737,"Epidermolytic nevus",0,5,[],[3],0,0,44656,"",0,0],[497757,"MME-related autosomal dominant Charcot Marie Tooth disease type 2",0,5,[1],[6],5,1,44657,"MME",0,0],[497764,"Spinocerebellar ataxia type 43",0,1,[1],[6,7],5,1,14867,"MME",0,0],[497906,"Childhood-onset basal ganglia degeneration syndrome",0,1,[0],[1,2],5,1,14889,"VAC14",1,0],[498228,"Phyllodes tumor of the prostate",0,11,[2],[6,7],7,0,21102,"",0,0],[498251,"Menstrual cycle-dependent periodic fever",0,19,[2],[5,6],5,1,44660,"HTR1A",0,0],[498345,"Biliary atresia and associated disorders",4,17,[],[],8,0,28737,"",0,0],[498350,"Syndromic biliary atresia",3,17,[],[],8,0,34661,"",0,0],[498359,"Aquagenic palmoplantar keratoderma",0,5,[4],[1,2,5,6],6,1,44663,"CFTR",0,0],[498445,"Genetic inflammatory or rheumatoid-like osteoarthropathy",4,0,[],[],8,0,800092,"",0,0],[498448,"Overgrowth or tall stature syndrome with skeletal involvement",4,3,[],[],8,0,800091,"",0,0],[498451,"Dysostosis with brachydactyly without extraskeletal manifestations",4,3,[],[],8,0,800093,"",0,0],[498454,"Dysostosis with brachydactyly with extraskeletal manifestations",4,3,[],[],8,0,800094,"",0,0],[498457,"Non-syndromic longitudinal limb defect",4,3,[],[],8,0,34667,"",0,0],[498461,"Non-syndromic terminal transverse limb defect",4,3,[],[],8,0,34668,"",0,0],[498464,"Non-syndromic preaxial polydactyly",4,3,[],[],8,0,34669,"",0,0],[498467,"Non-syndromic postaxial polydactyly",4,3,[],[],8,0,34670,"",0,0],[498470,"Non-syndromic complex polydactyly",4,3,[],[],8,0,34671,"",0,0],[498474,"Hyaline fibromatosis syndrome",0,0,[],[0,1,2],5,0,9229,"",1,0],[498477,"Ectrodactyly with and without other manifestations",4,3,[],[],8,0,800090,"",0,0],[498481,"LRP5-related primary osteoporosis",1,0,[1],[2,5],6,2,44675,"LRP5 LRP5",0,0],[498485,"Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome",1,0,[],[4,0],5,0,12131,"",0,0],[498488,"Overgrowth syndrome with 2q37 translocation",1,0,[],[0,1],5,0,34676,"",0,0],[498491,"Non-syndromic complete hemimelia",4,3,[],[],8,0,850030,"",0,0],[498494,"Mirror-image polydactyly",6,3,[],[],8,1,34678,"PITX1",0,0],[498497,"Short rib-polydactyly syndrome type 5",1,0,[0],[4],5,1,13569,"WDR35",1,0],[498602,"Sugarman brachydactyly",6,3,[],[0,1],5,0,10087,"",0,0],[498693,"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome",0,3,[0],[0],5,1,44682,"MYBPC1",0,0],[499009,"Congenital syphilis",0,3,[2],[4,0],3,0,5714,"",0,0],[499047,"Autoimmune/inflammatory optic neuropathy",3,10,[],[],8,0,44685,"",0,0],[499085,"Chronic relapsing inflammatory optic neuritis",2,10,[2],[],8,0,44687,"",0,0],[499096,"Isolated optic neuritis",0,10,[2],[],8,0,44688,"",0,0],[499103,"Recurrent idiopathic neuroretinitis",0,10,[2],[],8,0,44689,"",0,0],[499107,"Idiopathic optic perineuritis",0,10,[2],[],8,0,44690,"",0,0],[499182,"Pilomatrix carcinoma",0,5,[2],[5,6,7],8,0,3414,"",0,0],[500055,"Hao-Fountain syndrome due to 16p13.2 microdeletion",7,3,[2],[1,2],5,1,100528,"USP7",0,0],[500062,"Infantile-onset periodic fever-panniculitis-dermatosis syndrome",0,14,[0],[0,1],5,1,14912,"OTULIN",1,0],[500095,"Tall stature-intellectual disability-renal anomalies syndrome",1,3,[0],[4,0],5,1,14918,"FIBP",1,0],[500135,"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome",1,3,[0],[4],5,1,9359,"CEP55",1,0],[500144,"Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome",1,3,[0],[0],5,1,44696,"TRAPPC12",1,0],[500150,"ZTTK syndrome",1,3,[1],[0],5,1,14936,"SON",1,0],[500159,"Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome",1,3,[1],[1,2],5,1,30913,"RAC1",1,0],[500163,"Witteveen-Kolk syndrome",1,3,[1],[4,0],5,0,44699,"",1,0],[500166,"SIN3-related intellectual disability syndrome due to a point mutation",7,3,[1],[4,0,1],8,2,44700,"SIN3A SIN3B",0,0],[500180,"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder",0,1,[1],[2],5,1,44701,"UBTF",1,0],[500188,"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome",1,18,[5],[0],5,1,44702,"GPRASP2",0,0],[500464,"Squamous cell carcinoma of the nasal cavity and paranasal sinuses",0,11,[2],[6,7],4,3,44705,"PTEN ING1 TNFRSF10B",0,0],[500478,"Squamous cell carcinoma of the oropharynx",0,11,[2],[5,6,7],3,3,44704,"PTEN ING1 TNFRSF10B",0,0],[500533,"Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome",0,1,[0],[4,0,1],5,1,12611,"STRADA",1,0],[500545,"Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract",0,1,[1],[0,1],5,1,44306,"NACC1",1,0],[500548,"Osteosclerotic metaphyseal dysplasia",1,0,[0],[1],5,1,14080,"LRRK1",1,0],[502305,"Cochleovestibular malformation",6,18,[2],[0],8,0,44709,"",0,0],[502318,"Cochlear nerve deficiency",6,18,[2],[0],8,0,34733,"",0,0],[502363,"Squamous cell carcinoma of the oral cavity",0,11,[2],[2,5,6,7],3,3,4958,"PTEN ING1 TNFRSF10B",0,0],[502366,"Squamous cell carcinoma of the lip",0,11,[2],[6,7],3,3,21427,"PTEN ING1 TNFRSF10B",0,0],[502369,"Squamous cell carcinoma of oral cavity and lip",4,11,[],[],8,0,44710,"",0,0],[502423,"Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome",0,3,[1],[1,6],5,1,44714,"MSTO1",1,0],[502430,"Weiss-Kruszka Syndrome",1,3,[1],[4,0],5,1,32836,"ZNF462",1,0],[502434,"STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome",1,3,[1],[4,0,1],5,1,30912,"STAG1",1,0],[502437,"4q25 proximal deletion syndrome",1,3,[],[1],5,0,44717,"",0,0],[502444,"Alkaline ceramidase 3 deficiency",0,1,[0],[1],5,1,44718,"ACER3",1,0],[502499,"Erythema multiforme major",0,5,[2],[3],8,0,44719,"",0,0],[504476,"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",0,1,[0],[6,7],5,1,44720,"RFC1",1,0],[504523,"T-B+NK+ severe combined immunodeficiency due to LAT deficiency",0,16,[0],[1],5,1,44721,"LAT",1,0],[504530,"Combined immunodeficiency due to Moesin deficiency",0,16,[5],[2],5,1,10514,"MSN",1,0],[505208,"3-methylglutaconic aciduria type 8",0,1,[0],[0],5,1,44723,"HTRA2",1,0],[505216,"3-methylglutaconic aciduria type 9",0,1,[0],[1],5,1,44724,"TIMM50",1,0],[505227,"Combined immunodeficiency due to GINS1 deficiency",0,16,[0],[4,0],5,1,44725,"GINS1",1,0],[505237,"Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome",1,3,[0],[1],5,1,44319,"OTUD6B",1,0],[505242,"Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome",0,1,[0],[1],5,1,44726,"SLC30A9",1,0],[505248,"Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders",1,3,[0],[1],5,1,15012,"VPS33A",1,0],[505395,"Ventilator-induced diaphragmatic dysfunction",5,9,[2],[3],6,0,0,"",0,0],[505652,"CDKL5-deficiency disorder",0,1,[7],[0,1],3,1,10396,"CDKL5",1,0],[506052,"Neuroendocrine neoplasm of pancreas",4,11,[],[],8,0,5815,"",0,0],[506060,"Functioning neuroendocrine tumor of pancreas",4,11,[],[6,7],8,0,23206,"",0,0],[506075,"Non-functioning neuroendocrine tumor of pancreas",0,11,[2],[6,7],8,0,4334,"",0,0],[506090,"Serotonin-producing neuroendocrine tumor of pancreas",0,11,[2],[],8,0,24504,"",0,0],[506098,"Neuroendocrine carcinoma of pancreas",0,11,[2],[],8,0,5893,"",0,0],[506112,"Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas",0,11,[2],[],8,0,44727,"",0,0],[506136,"Neuroendocrine neoplasm of esophagus",0,11,[2],[],8,0,3649,"",0,0],[506207,"Rare disorder potentially indicated for transplant",4,-1,[],[],8,0,0,"",0,0],[506210,"Rare disorder potentially indicated for liver transplant",4,30,[],[],8,0,0,"",0,0],[506213,"Rare disorder potentially indicated for kidney transplant",4,30,[],[],8,0,0,"",0,0],[506216,"Rare disorder potentially indicated for bowel transplant",4,30,[],[],8,0,0,"",0,0],[506219,"Rare disorder potentially indicated for hematopoietic stem cell transplant",4,30,[],[],8,0,0,"",0,0],[506222,"Rare disorder potentially indicated for lung transplant",4,30,[],[],8,0,0,"",0,0],[506225,"Rare disorder potentially indicated for heart transplant",4,30,[],[],8,0,0,"",0,0],[506307,"Stromme syndrome",1,3,[0],[4],5,1,9477,"CENPF",1,0],[506334,"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency",0,2,[0],[],8,1,33203,"SGPL1",1,0],[506353,"Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction",0,1,[0],[1,2],5,1,44737,"SELENOI",0,0],[506358,"Gabriele-de Vries syndrome",1,3,[1],[4,0],5,1,44738,"YY1",1,0],[506784,"Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome",2,5,[2],[],8,0,44739,"",0,0],[508093,"MEPAN syndrome",1,1,[0],[1,2],5,1,15003,"MECR",1,0],[508410,"Familial intestinal malrotation",6,3,[],[3],8,0,34819,"",0,0],[508476,"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome",1,3,[0],[0],5,1,34820,"HYAL2",1,0],[508488,"8q24.3 microdeletion syndrome",1,3,[2],[4,0],5,1,14263,"PUF60",1,0],[508498,"Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome",1,3,[1],[0,1],5,1,34989,"PUF60",0,0],[508501,"Orofaciodigital syndrome type 18",1,3,[0],[0],5,1,34823,"IFT57",0,0],[508512,"Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome",0,5,[0],[4,0],5,2,34991,"RMI2 TOP3A",0,0],[508523,"Hyperphenylalaninemia due to DNAJC12 deficiency",0,1,[0],[1],5,1,44304,"DNAJC12",1,0],[508529,"Intermediate epidermolysis bullosa simplex with cardiomyopathy",0,5,[1],[0],5,1,15006,"KLHL24",1,0],[508533,"Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome",0,0,[0],[4,0],5,1,33682,"EXTL3",0,0],[508542,"Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome",0,3,[0],[0],5,1,33683,"MYSM1",0,0],[512017,"Chronic lymphoproliferative disorder of natural killer cells",0,11,[4],[],8,1,4234,"STAT3",0,0],[512034,"Large granular lymphocyte leukemia",3,11,[],[],5,0,34872,"",0,0],[512103,"Autosomal recessive epidermolytic ichthyosis",0,5,[0],[],8,1,44742,"KRT10",0,0],[512260,"Congenital cerebellar ataxia due to RNU12 mutation",0,1,[0],[1],5,1,33717,"RNU12",0,0],[513436,"Autosomal recessive spastic paraplegia type 78",0,1,[0],[2,5,6],5,1,14975,"ATP13A2",1,0],[513456,"Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome",0,3,[1],[1],5,1,54636,"WDR26",1,0],[514352,"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome",1,3,[],[4,0],5,0,34895,"",0,0],[514980,"ATP13A2-related parkinsonism",3,1,[],[2,5],5,0,34901,"",0,0],[519264,"Inflammatory/autoimmune disorder involving the lacrimal system",4,10,[],[],8,0,34923,"",0,0],[519266,"Rare disorder of the ocular adnexa",4,10,[],[],8,0,0,"",0,0],[519268,"Rare disorder with ectropion",4,10,[],[],8,0,0,"",0,0],[519270,"Rare disorder with entropion",4,10,[],[],8,0,34926,"",0,0],[519272,"Structural developmental eye defect",4,3,[],[],8,0,0,"",0,0],[519274,"Syndromic lacrimal system disorder",4,3,[],[],8,0,850007,"",0,0],[519276,"Anterior segment developmental anomaly with extraocular manifestations",4,3,[],[],8,0,850008,"",0,0],[519278,"Infective keratitis",4,10,[],[],8,0,23865,"",0,0],[519280,"Rare conjunctivitis",4,10,[],[],8,0,34931,"",0,0],[519282,"Rare corneal disorder",4,10,[],[],8,0,0,"",0,0],[519284,"Rare disorder of the anterior segment of the eye",4,10,[],[],8,0,0,"",0,0],[519286,"Rare disorder of the pupil",4,10,[],[],8,0,0,"",0,0],[519288,"Rare disorder with corneal involvement as a major feature",4,10,[],[],8,0,0,"",0,0],[519290,"Rare inflammatory/autoimmune corneal disorder",4,10,[],[],8,0,0,"",0,0],[519292,"Syndromic ectopia lentis",4,3,[],[],8,0,34937,"",0,0],[519294,"Syndromic microspherophakia",4,3,[],[],8,0,850009,"",0,0],[519296,"Rare disorder with pigmented sclera",4,10,[],[],8,0,0,"",0,0],[519298,"Rare scleral disorder",4,15,[],[],8,0,0,"",0,0],[519309,"Rare choroidal disorder",4,10,[],[],8,0,0,"",0,0],[519311,"Rare disorder of the posterior segment of the eye",4,10,[],[],8,0,0,"",0,0],[519313,"Rare macular disorder",4,10,[],[],8,0,0,"",0,0],[519315,"Rare retinal disorder",4,10,[],[],8,0,0,"",0,0],[519317,"Rare retinal vasculopathy",4,10,[],[],8,0,0,"",0,0],[519329,"Rare disorder involving multiple structures of the eye",4,10,[],[],8,0,0,"",0,0],[519331,"Secondary early-onset glaucoma",4,10,[],[],8,0,957341,"",0,0],[519333,"Congenital optic disc excavation",4,3,[],[],8,0,850010,"",0,0],[519337,"Disorder with optic nerve compression",4,10,[],[],8,0,0,"",0,0],[519339,"Pseudopapilledema",4,10,[],[],8,0,8331,"",0,0],[519341,"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature",4,10,[],[],8,0,34961,"",0,0],[519343,"Rare ophthalmic disorder with cortical involvement",4,10,[],[],8,0,34962,"",0,0],[519345,"Rare disorder with optic disc malformation",4,10,[],[],8,0,0,"",0,0],[519347,"Rare neuromuscular disorder with ocular motility/alignment anomaly",4,10,[],[],8,0,0,"",0,0],[519349,"Rare ophthalmic disorder with cranial nerve involvement",4,10,[],[],8,0,34965,"",0,0],[519351,"Rare optic nerve disorder",4,10,[],[],8,0,0,"",0,0],[519353,"Rare trochlear nerve disorder",4,10,[],[],8,0,0,"",0,0],[519355,"Rare ocular motility/alignment disorder",4,10,[],[],8,0,34968,"",0,0],[519384,"Congenital cystic eye",6,10,[2],[4],5,0,22825,"",0,0],[519386,"Isolated congenital entropion",6,10,[2],[],8,0,34971,"",0,0],[519388,"Autosomal recessive anterior segment dysgenesis",1,10,[0],[2,5,6],5,1,15017,"CPAMD8",1,0],[519390,"Isolated blepharochalasis",0,10,[2],[],8,0,33809,"",0,0],[519392,"Isolated iridoschisis",0,10,[2],[],8,0,33810,"",0,0],[519396,"Isolated microspherophakia",6,10,[2],[],8,0,34977,"",0,0],[519398,"Isolated foveal hypoplasia",6,10,[],[],8,0,34978,"",0,0],[519400,"Peripapillary staphyloma",6,10,[2],[],8,0,34979,"",0,0],[519402,"Isolated megalopapilla",6,10,[2],[],8,0,34980,"",0,0],[519404,"Optic disc pit",6,10,[2],[],8,0,34981,"",0,0],[519406,"Thygeson superficial punctate keratitis",0,10,[2],[],8,0,33816,"",0,0],[519408,"Mooren ulcer",0,10,[2],[],8,0,1032,"",0,0],[519410,"Terrien marginal degeneration",0,10,[2],[],8,0,33818,"",0,0],[519930,"Fungal keratitis",0,10,[2],[],8,0,33821,"",0,0],[520814,"Rare disorder of the visual organs",4,10,[],[],8,0,35001,"",0,0],[520820,"Progressive external ophthalmoplegia",4,10,[],[],8,0,5181,"",0,0],[521123,"Radiation-induced plexopathy",0,1,[2],[],8,0,33838,"",0,0],[521127,"Osteoradionecrosis of the mandible",0,0,[2],[],8,0,33839,"",0,0],[521132,"Radiation-induced disorder",4,27,[],[],8,0,43459,"",0,0],[521219,"Mirizzi syndrome",9,17,[2],[6,7],6,0,43330,"",0,0],[521232,"Genetic primary orthostatic disorder",4,1,[],[],8,0,35013,"",0,0],[521236,"Primary orthostatic disorder",4,1,[],[],8,0,35014,"",0,0],[521258,"Xq25 microduplication syndrome",1,3,[],[1,2],5,1,10507,"STAG2",0,0],[521268,"Sodium-dependent multivitamin transporter deficiency",0,2,[],[],8,0,33546,"",1,0],[521305,"Proximal myopathy with focal depletion of mitochondria",0,1,[6],[2,5,6],5,1,10923,"CHKB",0,0],[521308,"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome",1,3,[],[0,1],5,0,35018,"",0,0],[521390,"Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome",1,1,[1],[4,0],5,1,15007,"KIDINS220",1,0],[521406,"Dystonia-parkinsonism-hypermanganesemia syndrome",0,1,[0],[1],5,1,14864,"SLC39A14",1,0],[521411,"Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect",0,1,[0],[1,5],5,1,33850,"SCO2",0,0],[521414,"Autosomal dominant Charcot-Marie-Tooth disease type 2DD",0,1,[1],[2,5,6],5,1,54833,"ATP1A1",1,0],[521426,"PLAA-associated neurodevelopmental disorder",1,3,[0],[0,1],5,1,60502,"PLAA",1,0],[521432,"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome",0,17,[0],[0],5,1,33853,"CYP51A1",0,0],[521438,"Congenital vertebral-cardiac-renal anomalies syndrome",1,3,[0],[0],5,3,20831,"KYNU HAAO NADSYN1",0,0],[521445,"Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome",1,3,[1],[0,1],5,1,35027,"ADAMTSL1",0,0],[521450,"LAMA5-related multisystemic syndrome",0,14,[1],[0,1],5,1,33856,"LAMA5",1,0],[522037,"Primary autoimmune enteropathy",0,12,[2],[],8,0,33862,"",0,0],[522043,"Syndromic autoimmune enteropathy",3,12,[],[],8,0,0,"",0,0],[522077,"Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome",0,1,[1],[1],5,1,33864,"SYT1",1,0],[522504,"Rare genetic disorder of the visual organs",4,10,[],[],8,0,35037,"",0,0],[522506,"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature",4,1,[],[],8,0,0,"",0,0],[522508,"Rare genetic ophthalmic disorder with cortical involvement",4,10,[],[],8,0,0,"",0,0],[522510,"Rare genetic ophthalmic disorder with cranial nerve involvement",4,10,[],[],8,0,0,"",0,0],[522512,"Rare genetic optic nerve disorder",4,10,[],[],8,0,0,"",0,0],[522514,"Congenital optic disc excavation of genetic origin",4,10,[],[],8,0,0,"",0,0],[522516,"Rare genetic ocular motility/alignment disorder",4,10,[],[],8,0,0,"",0,0],[522518,"Rare genetic disorder with strabismus",4,10,[],[],8,0,0,"",0,0],[522520,"Syndromic genetic disorder with strabismus",4,10,[],[],8,0,0,"",0,0],[522522,"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly",4,1,[],[],8,0,0,"",0,0],[522524,"Rare genetic disorder of the ocular adnexa",4,10,[],[],8,0,0,"",0,0],[522526,"Rare genetic palpebral disorder",4,3,[],[],8,0,0,"",0,0],[522528,"Rare genetic eyelid malposition disorder",4,10,[],[],8,0,0,"",0,0],[522530,"Rare genetic disorder with entropion",4,10,[],[],8,0,0,"",0,0],[522532,"Rare genetic disorder of the lacrimal apparatus",4,10,[],[],8,0,0,"",0,0],[522534,"Lacrimal drainage system anomaly of genetic origin",4,3,[],[],8,0,0,"",0,0],[522536,"Structural developmental eye defect of genetic origin",4,3,[],[],8,0,0,"",0,0],[522538,"Rare genetic disorder of the anterior segment of the eye",4,10,[],[],8,0,0,"",0,0],[522540,"Anterior segment developmental anomaly of genetic origin",4,3,[],[],8,0,0,"",0,0],[522542,"Rare genetic disorder with conjunctival involvement as a major feature",4,10,[],[],8,0,0,"",0,0],[522546,"Rare genetic disorder with lens opacification",4,10,[],[],8,0,0,"",0,0],[522548,"Syndromic genetic cataract",4,10,[],[],8,0,0,"",0,0],[522550,"Lens size anomaly of genetic origin",4,3,[],[],8,0,0,"",0,0],[522552,"Lens position anomaly of genetic origin",4,10,[],[],8,0,0,"",0,0],[522554,"Syndromic genetic ectopia lentis",4,10,[],[],8,0,0,"",0,0],[522556,"Rare genetic corneal disorder",4,10,[],[],8,0,0,"",0,0],[522558,"Rare genetic disorder with corneal involvement as a major feature",4,10,[],[],8,0,0,"",0,0],[522560,"Genetic corneal dystrophy",4,10,[],[],8,0,0,"",0,0],[522562,"Genetic superficial corneal dystrophy",4,10,[],[],8,0,0,"",0,0],[522564,"Syndromic genetic keratoconus",4,10,[],[],8,0,0,"",0,0],[522566,"Rare genetic inflammatory/autoimmune corneal disorder",4,10,[],[],8,0,0,"",0,0],[522568,"Rare genetic disorder of the pupil",4,10,[],[],8,0,0,"",0,0],[522570,"Rare genetic disorder of the posterior segment of the eye",4,10,[],[],8,0,0,"",0,0],[522572,"Rare genetic retinal disorder",4,10,[],[],8,0,0,"",0,0],[522574,"Rare genetic macular disorder",4,10,[],[],8,0,0,"",0,0],[522576,"Rare genetic retinal vasculopathy",4,10,[],[],8,0,0,"",0,0],[522578,"Rare genetic disorder involving multiple structures of the eye",4,10,[],[],8,0,0,"",0,0],[522580,"Secondary early-onset glaucoma of genetic origin",4,10,[],[],8,0,35075,"",0,0],[523000,"Pediatric-onset glaucoma",4,10,[],[0,1,2,5],8,0,0,"",0,0],[525677,"Genetic congenital malformation of the eye with glaucoma as a major feature",4,3,[],[0],8,0,0,"",0,0],[525731,"Pediatric-onset Graves disease",0,15,[2],[1,2,5],8,0,33925,"",0,0],[525738,"Prepubertal anorexia nervosa",0,1,[2],[],8,0,33926,"",0,0],[527276,"Encephalopathy due to mitochondrial and peroxisomal fission defect",0,1,[],[0,1,2],5,0,54865,"",2,0],[527450,"Severe myopia-generalized joint laxity-short stature syndrome",1,0,[0],[0],5,1,60556,"GZF1",1,0],[527468,"Diaphragmatic hernia-short bowel-asplenia syndrome",1,3,[0],[4],5,1,35105,"HLX",0,0],[527497,"NKX6-2-related autosomal recessive hypomyelinating leukodystrophy",0,1,[0],[1,2],5,1,33043,"NKX6-2",1,0],[528084,"Non-specific syndromic intellectual disability",0,1,[1,0,5],[1,2],6,113,100038,"PRPF8 CACNA1C HTT BRWD3 PAK3 NTNG1 GRIK2 HUWE1 BAP1 SRCAP CNOT3 SETD5 EEF1A2 RLIM AGO1 AGO2 BCORL1 CHD5 CSNK2A1 NAA15 RORA TBR1 TCF20 TCF7L2 TRIP12 XPO1 ZNF526 WDFY3 SETD1A PLXNA1 WARS1 KMT2B RNF2 JARID2 ACTL6A PSMD12 MED13 TNRC6B ACTL6B ZMIZ1 PUS7 DOCK3 KMT2E SVBP TRMT1 CNOT1 DDX6 GRIA4 FBXW11 CERT1 MAN2C1 TANC2 MED12L TRAPPC4 PTPN23 DLG4 CAPRIN1 SYNCRIP NRCAM MAPK8IP3 CCDC32 KAT8 NTNG2 MTSS2 SCAF4 UBR7 WASF1 ZNF142 GNB2 MADD PALS1 KDM4B DPYSL5 MARK2 HS2ST1 AP1G1 EMC10 SPTBN1 LMBRD2 CLCN3 TIAM1 ATP2B1 TMEM222 OTUD5 SIAH1 RAC3 FAM50A ZMYM2 EIF5A ZNF699 PCDHGC4 CPSF3 ATP9A DOHH ADGRL1 TAF4 EIF4A2 HNRNPC ATP6V0A1 CDK8 PGM2L1 CTR9 RALA NOVA2 MSL2 UPF1 FBXO11 MYCBP2 FBXW7 ZNF292 KDM2B KDM6B NCKAP1",209,0],[528091,"Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome",0,2,[],[0],5,1,14869,"LARS2",1,0],[528105,"Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome",0,13,[0],[2,5,6],5,1,60564,"CLDN10",1,0],[528623,"Hereditary angioedema with C1Inh deficiency",0,14,[2],[6,7],5,0,33946,"",1,0],[528647,"Hereditary angioedema with normal C1Inh",0,14,[2],[],8,0,33947,"",0,0],[528663,"Acquired angioedema with C1Inh deficiency",0,14,[2],[],8,0,33948,"",0,0],[529468,"Monoclonal mast cell activation syndrome",0,11,[2],[3],6,0,33954,"",0,0],[529574,"Duane retraction syndrome with congenital deafness",1,18,[1],[0],5,1,35337,"MAFB",0,0],[529665,"Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome",1,3,[0],[1],5,1,60627,"GPAA1",1,0],[529799,"Acute bilirubin encephalopathy",9,1,[2],[0],4,0,35344,"",0,0],[529808,"Chronic bilirubin encephalopathy",9,1,[2],[0,1],3,0,35345,"",0,0],[529831,"Letrozole toxicity",5,27,[2],[3],6,0,35350,"",0,0],[529852,"Combined hepatocellular carcinoma and cholangiocarcinoma",0,11,[2],[6,7],6,0,44791,"",0,0],[529864,"Secondary erythromelalgia",0,5,[2],[3],4,0,35149,"",0,0],[529962,"17q24.2 microdeletion syndrome",1,3,[2],[4,0],5,2,35151,"BPTF PSMD12",0,0],[529965,"Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome",1,3,[1],[1],5,1,60568,"CHD1",1,0],[529970,"Male infertility due to acephalic spermatozoa",2,20,[0],[6],6,2,35153,"PMFBP1 SUN5",1,0],[529974,"Immune dysregulation with inflammatory bowel disease",4,16,[],[],8,0,33967,"",0,0],[529977,"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome",0,12,[0],[0,1],5,1,33968,"RIPK1",0,0],[529980,"Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome",0,12,[],[1],5,1,33969,"NFAT5",0,0],[530033,"Dermoid or epidermoid cyst of the central nervous system",6,3,[],[6],8,0,35159,"",0,0],[530298,"Progressive myoclonic epilepsy with neuroserpin inclusion bodies",2,1,[],[6],8,0,12391,"",1,0],[530303,"Progressive dementia with neuroserpin inclusion bodies",2,1,[1],[6,7],8,1,35161,"SERPINI1",0,0],[530313,"PIK3CA-related overgrowth spectrum disorder",3,3,[],[],8,0,35162,"",0,0],[530792,"RELA fusion-positive ependymoma",0,11,[2],[1,2,5,6],8,2,33980,"RELA ZFTA",0,0],[530838,"KRT1-related diffuse nonepidermolytic keratoderma",0,5,[1],[1,2],6,1,10962,"KRT1",1,0],[530849,"Familial apolipoprotein A5 deficiency",7,15,[0],[6],5,1,7762,"APOA5",1,0],[530983,"Lamb-Shaffer syndrome",0,3,[1],[1],5,0,14778,"",1,0],[530995,"Mixed phenotype acute leukemia",0,11,[2],[2,5,6],6,0,20743,"",0,0],[531151,"9q21.13 microdeletion syndrome",1,1,[2],[1,2],5,0,35173,"",0,0],[535453,"Familial lipase maturation factor 1 deficiency",7,15,[0],[6],5,1,9527,"LMF1",1,0],[535458,"Familial GPIHBP1 deficiency",7,15,[0],[6],5,1,14412,"GPIHBP1",1,0],[536391,"RASopathy",4,3,[],[],8,0,21060,"",2,0],[536467,"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome",2,14,[0],[0],5,1,14139,"B3GALT6",1,0],[536471,"Spondylodysplastic Ehlers-Danlos syndrome",0,14,[],[0,1],5,0,34021,"",0,0],[536516,"Myopathic Ehlers-Danlos syndrome",0,14,[1,0],[4,0,1],5,1,34022,"COL12A1",1,0],[536532,"Classical-like Ehlers-Danlos syndrome type 2",0,14,[0],[0,1],5,1,54813,"AEBP1",1,0],[536545,"Kyphoscoliotic Ehlers-Danlos syndrome",0,14,[],[4,0],6,0,34024,"",0,0],[537072,"PLG-related hereditary angioedema with normal C1Inh",2,14,[1],[2,5,6,7],5,1,35220,"PLG",0,0],[538096,"Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy",0,1,[0],[4],5,0,11463,"",0,0],[538101,"Congenital axonal neuropathy with encephalopathy",0,1,[],[0],5,0,34041,"",0,0],[538238,"Neurological channelopathy of the central nervous system due to a genetic chloride channel defect",4,1,[],[],8,0,0,"",0,0],[538574,"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome",0,3,[],[0,1,2],5,2,7853,"KRT1 MPZ",0,0],[538756,"Familial multiple discoid fibromas",0,11,[],[0,1,2,5,6],5,0,8594,"",0,0],[538863,"Classic pyoderma gangrenosum",2,5,[3],[2,5,6,7],4,1,35235,"PTPN6",0,0],[538866,"Pustular pyoderma gangrenosum",2,5,[3],[2,5,6,7],5,1,35236,"PTPN6",0,0],[538869,"Bullous pyoderma gangrenosum",2,5,[3],[2,5,6,7],5,1,35237,"PTPN6",0,0],[538872,"Vegetative pyoderma gangrenosum",2,5,[3],[2,5,6,7],5,1,35238,"PTPN6",0,0],[538931,"X-linked lymphoproliferative disease due to SAP deficiency",0,16,[5],[1,2,5,6],5,1,24551,"SH2D1A",1,0],[538934,"X-linked lymphoproliferative disease due to XIAP deficiency",0,16,[5],[1,2,5,6],5,1,10385,"XIAP",1,0],[538958,"EBV-induced lymphoproliferative disease due to CD70 deficiency",0,16,[0],[1,2],5,1,34054,"CD70",1,0],[538963,"Combined immunodeficiency due to ITK deficiency",0,16,[0],[2,5],5,1,13081,"ITK",1,0],[541423,"Growth delay-intellectual disability-hepatopathy syndrome",0,1,[0],[0,1],5,1,14911,"IARS1",1,0],[541443,"Anomalous aortic origin of the left coronary artery",6,3,[2],[],8,0,35249,"",0,0],[541454,"Anomalous aortic origin of the right coronary artery",6,3,[2],[],8,0,35250,"",0,0],[541478,"Anomalous aortic origin of coronary artery",3,3,[],[],8,0,35251,"",0,0],[541507,"Anomalous origin of coronary artery from the pulmonary artery",6,3,[2],[],8,0,35252,"",0,0],[542301,"EBV-induced lymphoproliferative disease due to CARMIL2 deficiency",0,16,[0],[2],5,1,29134,"CARMIL2",1,0],[542306,"GNB5-related intellectual disability-cardiac arrhythmia syndrome",0,7,[0],[1,2],5,1,14953,"GNB5",1,0],[542310,"Leukoencephalopathy with calcifications and cysts",0,1,[0],[1,2,5,6],5,1,13803,"SNORD118",1,0],[542323,"T-cell based immunotherapy-associated cytokine release syndrome",5,14,[2],[6],6,0,0,"",0,0],[542568,"Quadricuspid aortic valve",6,3,[2],[],8,0,35267,"",0,0],[542585,"Auditory neuropathy-optic atrophy syndrome",0,2,[0],[1,2,5],5,1,60582,"FDXR",1,0],[542592,"Necrobiosis lipoidica",0,5,[2],[2,5,6,7],6,0,6583,"",0,0],[542643,"Livedoid vasculopathy",9,5,[2],[5,6],3,0,25514,"",0,0],[542657,"Isolated hyperchlorhidrosis",0,5,[0],[1],5,1,7747,"CA12",1,0],[542822,"Anomaly of the coronary ostia",3,3,[],[],8,0,35274,"",0,0],[543470,"Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome",0,2,[0],[1,2,5],5,1,34092,"FDXR",1,0],[544254,"SYNGAP1-related developmental and epileptic encephalopathy",0,1,[1],[1],5,1,12960,"SYNGAP1",1,0],[544458,"Hemolytic uremic syndrome",3,13,[],[],8,0,1549,"",0,0],[544469,"PRUNE1-related neurological syndrome",1,1,[0],[0,1],5,1,60490,"PRUNE1",2,0],[544472,"Atypical hemolytic uremic syndrome with complement gene abnormality",7,13,[],[3],6,6,35290,"CD46 CFH CFI THBD CFB C3",0,0],[544482,"Infection-related hemolytic uremic syndrome",0,13,[2],[3],6,0,34103,"",0,0],[544488,"Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome",0,2,[1],[4,0],5,1,33642,"ODC1",1,0],[544493,"Streptococcus pneumoniae-associated hemolytic uremic syndrome",2,13,[2],[3],6,0,35293,"",0,0],[544503,"RNF13-related severe early-onset epileptic encephalopathy",0,3,[1],[0],5,1,34106,"RNF13",1,0],[544578,"Congenital primary megaureter, refluxing and obstructed form",2,26,[],[0,1],6,0,35295,"",0,0],[544590,"Collagen-related glomerular basement membrane disease",4,13,[],[],8,0,0,"",0,0],[544602,"Congenital myopathy with reduced type 2 muscle fibers",0,1,[0],[4,0],5,1,34109,"MYL1",1,0],[544628,"Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome",0,15,[1],[0],5,1,34110,"HNF4A",0,0],[555402,"NAD(P)HX dehydratase deficiency",0,2,[0],[1,2],5,1,34121,"NAXD",1,0],[555407,"NAD(P)HX epimerase deficiency",0,2,[0],[1],5,1,20781,"NAXE",1,0],[555434,"Fibrohistiocytic inflammatory pseudotumor of the liver",2,17,[2],[6,7],6,0,35312,"",0,0],[555437,"Lymphoplasmacytic inflammatory pseudotumor of the liver",2,17,[2],[6,7],6,0,35313,"",0,0],[555874,"Congenital tricuspid valve dysplasia",6,3,[2],[4,0],6,0,35314,"",0,0],[555877,"FLNA-related X-linked myxomatous valvular dysplasia",6,3,[5],[0],5,1,10753,"FLNA",1,0],[555905,"IgA pemphigus",0,5,[2],[3],6,0,34127,"",0,0],[556030,"Early-onset familial hypoaldosteronism",2,15,[0],[0,1,2,5],6,1,35320,"CYP11B2",0,0],[556037,"Late-onset familial hypoaldosteronism",2,15,[],[6,7],6,0,35321,"",0,0],[556508,"Rare disorder due to poisoning",4,27,[],[],8,0,35328,"",0,0],[556955,"Pancreatic agenesis-holoprosencephaly syndrome",0,3,[1],[4],5,1,34142,"CNOT1",0,0],[556985,"Early-onset calcifying leukoencephalopathy-skeletal dysplasia",0,1,[0],[4,2,5],5,1,34143,"CSF1R",0,0],[557003,"Oculoskeletodental syndrome",0,0,[0],[2,5,6],5,1,34145,"PIK3C2A",1,0],[557056,"Spastic ataxia-dysarthria due to glutaminase deficiency",0,1,[1],[2],5,1,34146,"GLS",0,0],[557064,"Neonatal epileptic encephalopathy due to glutaminase deficiency",0,1,[0],[0],5,1,32678,"GLS",1,0],[557866,"Rare disorder with Hirschsprung disease as a major feature",4,3,[],[],8,0,35340,"",0,0],[558411,"Idiopathic gastroparesis",0,12,[2],[1,2,5,6,7],2,0,34150,"",0,0],[561854,"FOXG1 syndrome",0,1,[],[0],8,0,35383,"",1,0],[562509,"Heme oxygenase-1 deficiency",0,2,[0],[2,5],5,1,13536,"HMOX1",1,0],[562528,"Congenital limbs-face contractures-hypotonia-developmental delay syndrome",1,3,[1],[4,0],5,1,14556,"NALCN",1,0],[562538,"Autosomal recessive extra-oral halitosis",0,2,[0],[],8,1,34186,"SELENBP1",1,0],[562559,"Anterior maxillary protrusion-strabismus-intellectual disability syndrome",1,1,[0],[1,2],5,1,13353,"SOBP",0,0],[562569,"TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome",1,3,[0],[4,0],5,1,32672,"TMEM94",1,0],[562639,"Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome",0,17,[2],[3],6,0,34189,"",0,0],[563576,"Autoimmune hepatitis type 1",2,17,[2],[6],8,0,5543,"",0,0],[563581,"Autoimmune hepatitis type 2",2,17,[2],[2,5,6],8,0,21176,"",0,0],[563589,"Seronegative autoimmune hepatitis",2,17,[2],[6],8,0,35400,"",0,0],[563609,"Isolated anencephaly",2,3,[3],[4],8,2,35401,"MTHFR VANGL2",0,0],[563612,"Isolated exencephaly",2,3,[],[4],8,2,35402,"MTHFR VANGL2",0,0],[563666,"Serous cystadenoma of childhood",10,11,[2],[2],8,0,35403,"",0,0],[563671,"Mucinous cystadenoma of childhood",10,11,[2],[2],8,0,35404,"",0,0],[563676,"Seromucinous cystadenoma of childhood",10,11,[2],[2],8,0,35405,"",0,0],[563684,"Furuncular myiasis due to Dermatobia hominis",2,8,[2],[3],6,0,35406,"",0,0],[563687,"Furuncular myiasis due to Cordylobia anthropophaga",2,8,[2],[3],6,0,35407,"",0,0],[563690,"Furuncular myiasis due to Cordylobia rodhaini",2,8,[2],[3],6,0,35408,"",0,0],[563708,"Syndromic congenital sodium diarrhea",0,12,[0],[4,0],8,1,34204,"SPINT2",1,0],[563951,"Isolated congenital aglossia",2,3,[],[],8,0,35410,"",0,0],[563954,"Isolated congenital hypoglossia",2,3,[],[],8,0,35411,"",0,0],[563991,"Osteochondrosis of the tarsal bone",0,0,[2],[2,5],6,0,16086,"",0,0],[564003,"Osteochondrosis of the metatarsal bone",0,0,[2],[5,6],6,0,23188,"",0,0],[564127,"Genetic nephrotic syndrome",3,13,[],[],8,0,0,"",0,0],[564178,"Primary hypomagnesemia-refractory seizures-intellectual disability syndrome",0,13,[1],[0,1],5,1,0,"ATP1A1",0,0],[565612,"Primary triglyceride deposit cardiomyovasculopathy",7,7,[0],[6],6,1,35423,"PNPLA2",0,0],[565624,"Combined oxidative phosphorylation defect type 39",0,1,[0],[4,0,1],5,1,32726,"GFM2",1,0],[565641,"Primary desmosis coli",0,12,[2],[],8,0,34846,"",0,0],[565779,"Rare disorder potentially indicated for transplant or complication after transplantation",4,-1,[],[],8,0,35426,"",0,0],[565782,"Methotrexate toxicity",0,27,[2],[3],3,0,34212,"",0,0],[565788,"Infantile inflammatory bowel disease with neurological involvement",0,12,[0],[1],5,1,32601,"TGFB1",1,0],[565837,"Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23",0,1,[0],[],8,1,29136,"LAMA2",1,0],[565858,"Craniosynostosis-microretrognathia-severe intellectual disability syndrome",1,3,[1],[4,0],5,1,32642,"PPP3CA",1,0],[565899,"POMGNT2-related limb-girdle muscular dystrophy R24",0,1,[],[1,5],5,0,35432,"",0,0],[565909,"Calpain-3-related limb-girdle muscular dystrophy D4",0,1,[1],[6],5,1,29133,"CAPN3",1,0],[566067,"CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome",0,14,[0],[0,5],5,1,35437,"CEBPE",0,0],[566175,"Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome",0,12,[0],[1,2],5,1,9174,"CD55",1,0],[566192,"Congenital autosomal recessive small-platelet thrombocytopenia",0,4,[0],[0],5,2,35441,"FYB1 PTPRJ",0,0],[566231,"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha",0,15,[1],[3],5,1,34216,"THRA",0,0],[566243,"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta",0,15,[0],[3],3,1,34217,"THRB",0,0],[566393,"Acute mast cell leukemia",2,11,[2],[],8,1,35444,"KIT",0,0],[566396,"Chronic mast cell leukemia",2,11,[2],[],8,1,35445,"KIT",0,0],[566841,"Liver adenomatosis",0,11,[2],[6,7],6,0,35447,"",0,0],[566847,"Aprosencephaly/atelencephaly spectrum",6,3,[2],[],8,0,35448,"",0,0],[566852,"Atelencephaly",2,3,[2],[],8,0,35449,"",0,0],[566857,"Aprosencephaly",2,3,[2],[],8,0,35450,"",0,0],[566862,"Left isomerism",2,3,[],[],8,0,35451,"",0,0],[566943,"Mueller-Weiss syndrome",0,0,[2],[6],5,0,35452,"",0,0],[567502,"B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome",0,3,[1],[4],5,1,12243,"TOP2B",1,0],[567544,"Idiopathic non-lupus full-house nephropathy",9,13,[2],[3],6,0,35763,"",0,0],[567546,"Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance",9,13,[2],[3],6,0,35764,"",0,0],[567548,"Idiopathic steroid-resistant nephrotic syndrome",9,13,[2],[2,5,6],4,0,31008,"",1,0],[567550,"Idiopathic multidrug-resistant nephrotic syndrome",2,13,[2],[3],6,0,35459,"",0,0],[567552,"Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy",2,13,[2],[3],8,0,35460,"",0,0],[567554,"Systemic disease with glomerulopathy as a major feature",4,14,[],[],8,0,35461,"",0,0],[567556,"Genetic systemic disease with glomerulopathy as a major feature",4,14,[],[],8,0,0,"",0,0],[567558,"Non-genetic systemic disease with glomerulopathy as a major feature",4,14,[],[],8,0,0,"",0,0],[567560,"Systemic vasculitis associated with glomerulopathy",4,14,[],[],8,0,0,"",0,0],[567562,"Disorder with multisystemic involvement and glomerulopathy",4,13,[],[],8,0,0,"",0,0],[567564,"Nephrotic syndrome without extrarenal manifestations",4,13,[],[3],8,0,35466,"",0,0],[567983,"Parenteral nutrition-associated cholestasis",5,17,[2],[3],6,0,35777,"",0,0],[568041,"Primary lymphedema without systemic or visceral involvement",4,3,[],[],8,0,35469,"",0,0],[568044,"Primary lymphedema with systemic or visceral involvement",4,3,[],[],8,0,35470,"",0,0],[568047,"Disorder with multisystemic involvement and primary lymphedema",4,3,[],[],8,0,35471,"",0,0],[568051,"GJC2-related late-onset primary lymphedema",0,3,[1],[2,5,6],6,1,35472,"GJC2",0,0],[568056,"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome",0,3,[],[0,1],5,0,35473,"",0,0],[568062,"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis",0,3,[0],[4,0,1,2],5,1,14797,"PIEZO1",1,0],[568065,"EPHB4-related lymphatic-related hydrops fetalis",0,3,[1],[4],5,1,35475,"EPHB4",0,0],[569164,"Angiomatoid fibrous histiocytoma",0,11,[2],[2,5,6],6,2,12809,"EWSR1 CREB1",0,0],[569248,"Microcystic stromal tumor",0,11,[2],[6],6,1,6339,"CTNNB1",0,0],[569274,"Multiple mitochondrial dysfunctions syndrome type 5",0,2,[0],[1],5,1,33282,"ISCA1",1,0],[569290,"Multiple mitochondrial dysfunctions syndrome type 6",0,2,[0],[1],5,1,54785,"PMPCB",1,0],[569816,"CELSR1-related late-onset primary lymphedema",0,3,[1],[0,1,2,5],5,1,35499,"CELSR1",0,0],[569821,"Congenital primary lymphedema of Gordon",0,3,[1],[0,1,2,5,6],5,1,35500,"VEGFC",0,0],[570371,"Bartter syndrome type 5",2,13,[5],[4],5,1,10503,"MAGED2",1,0],[570422,"Galactose mutarotase deficiency",0,2,[0],[0,1],4,1,30105,"GALM",1,0],[570431,"Idiopathic multicentric Castleman disease",2,4,[2],[3],4,0,35838,"",0,0],[570438,"HHV-8-associated multicentric Castleman disease",2,4,[2],[3],8,0,19754,"",0,0],[570470,"Ricin poisoning",0,4,[2],[3],5,0,35511,"",0,0],[570491,"QRSL1-related combined oxidative phosphorylation defect",0,2,[0],[4,0,1],5,1,30006,"QRSL1",1,0],[570762,"Infective endocarditis",0,8,[2],[3],3,0,565,"",0,0],[572013,"Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome",1,3,[1],[1],5,2,32677,"MACF1 CEP85L",1,0],[572333,"Blepharophimosis-ptosis-epicanthus inversus syndrome plus",1,3,[],[4],6,1,35521,"FOXL2",0,0],[572354,"Blepharophimosis-ptosis-epicanthus inversus syndrome type 1",2,3,[0],[4],6,1,35524,"FOXL2",0,0],[572361,"Blepharophimosis-ptosis-epicanthus inversus syndrome type 2",2,3,[1],[4],6,1,35525,"FOXL2",0,0],[572385,"Brachydactyly type B1",2,3,[1],[4],5,1,7220,"ROR2",1,0],[572428,"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia",0,9,[1],[1],5,1,35529,"OAS1",1,0],[572543,"RFVT2-related riboflavin transporter deficiency",2,1,[0],[1,2],5,1,24537,"SLC52A2",1,0],[572550,"RFVT3-related riboflavin transporter deficiency",2,1,[0],[1,2,5,6],5,1,13867,"SLC52A3",1,0],[572761,"DONSON-related microcephaly-short stature-limb abnormalities spectrum",1,3,[0],[4,0],5,0,35534,"",0,0],[572768,"Microcephaly-micromelia syndrome",2,3,[0],[4],5,1,9619,"DONSON",1,0],[572773,"Microcephaly-short stature-limb abnormalities syndrome",2,3,[0],[4],5,1,60533,"DONSON",1,0],[572798,"WARS2-related combined oxidative phosphorylation defect",0,2,[0],[0,1],5,1,60578,"WARS2",1,0],[573163,"Pheochromocytoma-paraganglioma",3,15,[],[],8,0,35540,"",1,0],[573253,"Split cord malformation type II",6,3,[],[1,2,5,6],6,0,35541,"",0,0],[573278,"Split cord malformation",3,3,[],[1,2,5,6],6,0,9106,"",0,0],[574918,"Predisposition to severe viral infection due to IRF7 deficiency",0,16,[0],[3],5,1,14597,"IRF7",1,0],[574957,"Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency",0,16,[0],[3],6,1,35548,"JAK1",0,0],[575553,"CARASAL",0,1,[1],[6],8,1,35551,"CTSA",0,0],[576074,"Middle East respiratory syndrome",0,9,[2],[3],5,0,100116,"",0,0],[576227,"Complete atrioventricular septal defect without ventricular hypoplasia",2,3,[],[],8,1,35554,"MEF2C",0,0],[576232,"Partial atrioventricular septal defect with ventricular hypoplasia",2,3,[2],[],8,1,35555,"GATA4",0,0],[576235,"Partial atrioventricular septal defect without ventricular hypoplasia",2,3,[2],[],8,1,35556,"CRELD1",0,0],[576242,"Intermediate atrioventricular septal defect",6,3,[],[],8,0,35557,"",0,0],[576278,"SATB2-associated syndrome",1,3,[1],[0,1],3,0,100147,"",1,0],[576283,"SATB2-associated syndrome due to a pathogenic variant",7,3,[1],[4,0,1],8,1,12864,"SATB2",1,0],[576349,"NLRC4-related familial cold autoinflammatory syndrome",0,14,[1],[1,2],5,1,14498,"NLRC4",1,0],[576356,"Sporadic human prion disease",4,1,[],[],8,0,35561,"",0,0],[576360,"Acquired human prion disease",4,1,[],[],8,0,35562,"",0,0],[576370,"Variant Creutzfeldt-Jakob disease",0,1,[2],[6],5,0,7012,"",0,0],[576379,"Iatrogenic Creutzfeldt-Jakob disease",0,1,[2],[6],5,0,34976,"",0,0],[576742,"Genetic hemolytic uremic syndrome",4,13,[],[],8,0,957097,"",0,0],[580572,"Intraductal tubulopapillary neoplasm of pancreas",0,11,[2],[6,7],6,0,34987,"",0,0],[580933,"Lethal brain and heart developmental defects",1,3,[0],[4],5,1,35581,"SIRT6",0,0],[580940,"QRICH1-related intellectual disability-chondrodysplasia syndrome",1,3,[1],[4,0,1],5,1,60707,"QRICH1",1,0],[580951,"Punctate inner choroidopathy",0,10,[2],[6],4,0,35584,"",0,0],[581271,"Cramp-fasciculation syndrome",0,1,[1],[6],8,1,35586,"TRPA1",0,0],[583097,"Congenital infiltrating lipomatosis of the face",0,3,[],[0],5,1,35592,"PIK3CA",0,0],[583595,"Serine biosynthesis pathway deficiency, infantile/juvenile form",0,2,[],[4,0,1],5,0,35004,"",0,0],[583602,"Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency",7,2,[0],[],8,1,14466,"PSAT1",1,0],[583607,"Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency",7,2,[0],[],8,1,9736,"PHGDH",2,0],[583612,"Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency",7,2,[0],[],8,1,35930,"PSPH",0,0],[583856,"Isolated splenic vein thrombosis",0,12,[2],[6,7],6,0,35008,"",0,0],[583861,"Isolated mesenteric vein thrombosis",0,12,[2],[6,7],3,0,35009,"",0,0],[585867,"Acute myeloid leukemia with t(9;22)(q34.1;q11.2)",0,11,[2],[0,1,2,5,6,7],3,0,35112,"",0,0],[585909,"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)",7,11,[2],[1,2,5,6,7],6,7,35940,"ABL1 BCR CDKN2A TP53 FLT3 IKZF1 HLA-C",0,0],[585918,"B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)",7,11,[2],[1,2,5,6],6,1,35941,"KMT2A",0,0],[585929,"B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)",7,11,[2],[2,5,6],6,1,35942,"ETV6",0,0],[585936,"B-lymphoblastic leukemia/lymphoma with hyperdiploidy",7,11,[2],[2,5,6],6,2,35943,"GATA3 PIP4K2A",0,0],[585942,"B-lymphoblastic leukemia/lymphoma with hypodiploidy",7,11,[2],[2,5,6],6,0,35944,"",0,0],[585948,"B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)",7,11,[2],[2,5,6],6,1,35945,"IGH",0,0],[585956,"B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)",7,11,[2],[2,5,6],6,2,600030,"TCF3 PBX1",0,0],[586130,"Sporadic fatal insomnia",0,1,[2],[6,7],5,0,35614,"",0,0],[589435,"Spondylometaphyseal dysplasia-corneal dystrophy syndrome",1,0,[0],[0],5,1,30074,"PLCB3",0,0],[589442,"Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome",1,3,[0],[0,1,2],5,1,30045,"PISD",1,0],[589515,"PUM1-associated developmental disability-ataxia-seizure syndrome",0,1,[1],[0,1],5,1,35117,"PUM1",1,0],[589522,"Spinocerebellar ataxia type 46",0,1,[1],[6],5,1,33481,"PLD3",1,0],[589527,"Spinocerebellar ataxia type 45",0,1,[1],[6],5,1,33480,"FAT2",1,0],[589534,"Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)",7,11,[2],[2,5,6,7],6,2,35639,"KMT2A FLT3",0,0],[589542,"Myeloid/lymphoid neoplasm associated with JAK2 rearrangement",0,11,[2],[2,5,6,7],6,0,35121,"",0,0],[589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",0,1,[1],[0,1,2],5,1,13509,"GRIN2B",1,0],[589595,"Mixed phenotype acute leukemia with t(v;11q23.3)",7,11,[2],[1,2,5,6],6,3,35642,"KMT2A FLT3 AFF1",0,0],[589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",0,3,[2],[8],5,1,35124,"RHOA",0,0],[589618,"Dystonia 28",0,1,[1],[1,2],6,1,15004,"KMT2B",1,0],[589746,"Inherited gynecological cancer-predisposing syndrome",4,19,[],[],8,0,35645,"",0,0],[589821,"Congenital-onset Steinert myotonic dystrophy",2,1,[1],[4,0],3,1,35646,"DMPK",0,0],[589824,"Childhood-onset Steinert myotonic dystrophy",2,1,[1],[1,2],3,1,35647,"DMPK",0,0],[589827,"Juvenile-onset Steinert myotonic dystrophy",2,1,[1],[2],3,1,35648,"DMPK",0,0],[589830,"Adult-onset Steinert myotonic dystrophy",2,1,[1],[6],2,1,35649,"DMPK",0,0],[589833,"Late-onset Steinert myotonic dystrophy",2,1,[1],[7],3,1,35650,"DMPK",0,0],[589856,"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome",1,3,[1],[0],5,1,35651,"KMT2D",1,0],[589905,"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome",0,0,[1],[4,0,1],5,1,35133,"PHIP",1,0],[590539,"Isolated melanotic schwannoma",0,11,[2],[2,5,6,7],6,0,35136,"",0,0],[592564,"GNAO1-related developmental delay-seizures-movement disorder spectrum",0,1,[1],[0,1,2],5,1,35660,"GNAO1",1,0],[592570,"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome",1,3,[1],[4,0],5,1,35661,"TRAF7",1,0],[592574,"Menke-Hennekam syndrome",1,3,[1],[4,0,1],5,1,20774,"CREBBP",0,0],[592850,"Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies",2,1,[2],[],8,0,35663,"",0,0],[592856,"Neuromyelitis optica spectrum disorder with anti-MOG antibodies",2,1,[2],[],8,0,35664,"",0,0],[592869,"Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies",2,1,[2],[],8,0,35665,"",0,0],[592873,"Acute transverse myelitis with anti-MOG antibodies",2,1,[2],[1,2,5,6,7],6,0,35666,"",0,0],[592894,"Acute disseminated encephalomyelitis with anti-MOG antibodies",2,1,[2],[],8,0,35669,"",0,0],[592900,"Acute disseminated encephalomyelitis without anti-MOG antibodies",2,1,[2],[],8,0,35670,"",0,0],[595098,"Timothy syndrome type 1",2,7,[1],[4,0],8,1,35678,"CACNA1C",0,0],[595105,"Timothy syndrome type 2",2,7,[1],[4,0],8,1,35679,"CACNA1C",0,0],[595109,"Atypical Timothy syndrome",2,7,[1],[4,0],8,1,21172,"CACNA1C",0,0],[595133,"Perivascular epithelioid cell neoplasm",0,11,[2],[2,5,6,7],6,0,6359,"",0,0],[595216,"Fibrous dysplasia/McCune-Albright syndrome",3,0,[],[],8,0,1060267,"",0,0],[595337,"Adrenal hypoplasia congenita",3,15,[],[],8,0,35683,"",0,0],[595346,"Epidermolysis bullosa simplex without extracutaneous involvement",4,5,[],[],8,0,35684,"",0,0],[595351,"Epidermolysis bullosa simplex with extracutaneous involvement",4,5,[],[],8,0,35685,"",0,0],[595356,"Localized dystrophic epidermolysis bullosa",0,5,[1,0],[0,1],6,0,35349,"",0,0],[596008,"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis",2,3,[1],[],8,1,20667,"FGFR2",1,0],[596426,"Syndrome of reduced sensitivity to thyroid hormone",3,15,[],[],8,0,35689,"",0,0],[596448,"IgG4-related systemic disease",0,14,[2],[2,5,6,7],3,0,17287,"",0,0],[596753,"VEXAS syndrome",0,14,[2],[6,7],5,1,26777,"UBA1",0,0],[596759,"RELA haploinsufficiency-associated inflammatory disease",0,16,[1],[2],5,1,35694,"RELA",1,0],[596937,"Portosinusoidal vascular disease",0,17,[2],[6],6,0,35357,"",0,0],[596941,"Incomplete septal cirrhosis",10,17,[2],[],8,0,35696,"",0,0],[597201,"TRIM22-related inflammatory bowel disease",0,12,[0],[0],5,1,35362,"TRIM22",0,0],[597623,"IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome",0,1,[1],[0,1,2],5,1,60759,"IRF2BPL",1,0],[597733,"Oculocutaneous albinism type 8",0,5,[0],[2],5,1,30899,"DCT",1,0],[597738,"Luscan-Lumish syndrome",1,3,[1],[4,0,1,2],5,1,14791,"SETD2",1,0],[597743,"SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome",1,3,[1],[0],5,1,35706,"SETD2",1,0],[597746,"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome",1,3,[],[4,0],6,0,35707,"",0,0],[597749,"KAT6B-related multiple congenital anomalies syndrome",3,3,[],[],8,0,36042,"",1,0],[597874,"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome",0,1,[0],[4,0,1],5,1,32705,"MTHFS",1,0],[597887,"ALPI-related inflammatory bowel disease",0,12,[0],[1,5],5,1,35370,"ALPI",0,0],[597939,"Euthyroid dysprealbuminemic hyperthyroxinemia",0,15,[1],[6],5,1,36045,"TTR",0,0],[598164,"FOXG1 syndrome due to intragenic alteration",2,1,[1],[],8,1,35713,"FOXG1",1,0],[598216,"Upper tract urothelial carcinoma",0,11,[2],[8],3,0,20659,"",0,0],[598363,"Multisystem inflammatory syndrome in children and adults",0,14,[2],[2],6,0,35375,"",2,0],[598603,"Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome",1,3,[1],[0,1,2],5,1,32714,"KCNK4",1,0],[599082,"CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome",1,3,[1],[0,1],5,1,32600,"CHD3",1,0],[599373,"STXBP1-related developmental and epileptic encephalopathy",0,1,[1],[0],4,1,12812,"STXBP1",1,0],[599376,"Hypomyelination of early myelinating structures",0,1,[7],[1],5,1,35398,"PLP1",0,0],[599418,"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant",2,14,[1],[],8,4,35734,"KNG1 ANGPT1 MYOF HS3ST6",0,0],[599480,"Acquired hemophilia A",0,4,[2],[2,5,6,7],4,0,35735,"",0,0],[599485,"Acquired hemophilia B",0,4,[2],[2,6,7],6,0,35736,"",0,0],[599490,"Acquired factor V deficiency",0,4,[2],[6,7],5,0,35737,"",0,0],[599495,"Acquired factor VII deficiency",0,4,[2],[3],5,0,35738,"",0,0],[599501,"Acquired factor X deficiency",0,4,[2],[3],5,0,21134,"",0,0],[599507,"Acquired factor XI deficiency",0,4,[2],[5,6],5,0,35740,"",0,0],[599513,"Acquired factor XIII deficiency",0,4,[2],[2,5,6,7],5,0,21133,"",0,0],[599519,"Factor V short isoforms-related bleeding disorder",0,4,[1],[8],5,0,35742,"",0,0],[599579,"Factor V Amsterdam bleeding disorder",7,4,[1],[8],5,1,35743,"F5",0,0],[600194,"Factor V Atlanta bleeding disorder",7,4,[1],[8],5,1,35759,"F5",0,0],[600663,"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance",1,1,[0],[0],5,1,35774,"NRXN1",1,0],[600668,"CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome",0,3,[1],[0],5,1,35775,"CCNK",0,0],[600691,"Combined deficiency of factor VII and factor X",0,4,[],[0,1,2,5,6],5,0,35776,"",0,0],[600731,"Clark-Baraitser syndrome",1,3,[],[0,1,2],5,0,30914,"",1,0],[600832,"Legionella infection",3,8,[],[],8,0,5823,"",0,0],[600952,"Non-syndromic perineal fistula",6,3,[],[0],6,0,35780,"",0,0],[600961,"Non-syndromic rectourethral fistula",6,3,[],[0],6,0,35781,"",0,0],[600966,"Non-syndromic rectourethral fistula, bulbar type",2,3,[],[],8,0,35782,"",0,0],[600975,"Non-syndromic rectourethral fistula, prostatic type",2,3,[],[],8,0,35783,"",0,0],[600984,"Non-syndromic rectovesical fistula",6,3,[],[0],6,0,35784,"",0,0],[600993,"Non-syndromic vestibular fistula",6,3,[],[0],6,0,35785,"",0,0],[600998,"Non-syndromic cloacal malformation",6,3,[],[0],6,0,35786,"",0,0],[601002,"Non-syndromic anorectal malformation without fistula",6,3,[],[0],6,0,35787,"",0,0],[601008,"Non-syndromic anal stenosis",6,3,[],[0],6,0,35788,"",0,0],[601013,"Non-syndromic pouch colon",6,3,[],[0],6,0,35789,"",0,0],[601018,"Non-syndromic rectal atresia",6,3,[],[0],6,0,35790,"",0,0],[601023,"Non-syndromic rectal stenosis",6,3,[],[0],6,0,35791,"",0,0],[601028,"Non-syndromic rectovaginal fistula",6,3,[],[0],6,0,35792,"",0,0],[601033,"Non-syndromic H-type fistula",6,3,[],[0],6,0,35793,"",0,0],[603448,"Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome",1,3,[1],[0],5,1,35819,"VPS4A",1,0],[603494,"Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome",1,3,[],[4,0],5,0,15014,"",1,0],[603515,"Isolated female hypospadias",6,3,[2],[0],6,0,35821,"",0,0],[603684,"KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome",1,3,[0],[0],5,1,14890,"KLHL7",1,0],[603689,"KLHL7-related Bohring-Opitz-like syndrome",1,3,[0],[4,0],5,1,35823,"KLHL7",0,0],[603694,"KLHL7-related Crisponi/cold-induced sweating-like syndrome",0,1,[0],[],8,1,35824,"KLHL7",0,0],[603699,"Recessive KLHL7-related disorder",3,1,[0],[],8,0,0,"",0,0],[604680,"Symptomatic form of X-linked centronuclear myopathy in female carriers",0,1,[],[0,1,2],5,1,35826,"MTM1",0,0],[610569,"KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome",0,3,[0],[4,0],5,1,60631,"BLTP1",1,0],[610573,"CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome",0,1,[1],[1],5,1,30947,"CLCN6",1,0],[611201,"Oculogastrointestinal-neurodevelopmental syndrome",1,3,[0],[0,1],5,1,36189,"CAPN15",1,0],[611207,"Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome",9,0,[],[],8,0,31007,"",0,0],[611216,"Aplastic anemia-intellectual disability-dwarfism syndrome",0,4,[],[0,1],5,0,30894,"",1,0],[611223,"EN1-related dorsoventral syndrome",1,0,[],[0],5,0,1040032,"",1,0],[611237,"Parkinsonism with polyneuropathy",0,1,[],[6],5,0,36193,"",0,0],[611247,"Pontocerebellar hypoplasia type 11",2,3,[0],[4,0],5,0,54669,"",1,0],[611256,"Pontocerebellar hypoplasia type 12",2,3,[0],[4,0],5,1,32643,"COASY",1,0],[611314,"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome",4,1,[],[],8,0,35862,"",0,0],[611327,"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability",4,3,[],[],8,0,35863,"",0,0],[613267,"Pontocerebellar hypoplasia type 13",2,3,[0],[0],5,0,32831,"",2,0],[613274,"Pontocerebellar hypoplasia type 14",2,3,[0],[4,0],5,0,30258,"",1,0],[615938,"Spastic paraparesis-cataracts-speech delay syndrome",9,2,[1],[],8,1,36212,"FAR1",1,0],[615943,"Granuloma faciale",0,5,[2],[],8,0,35879,"",0,0],[615954,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome",9,3,[],[4,0],5,0,32931,"",1,0],[615964,"Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate",0,1,[],[2,6],5,0,32716,"",1,0],[615970,"Chronic intervillositis of unknown etiology",0,19,[2],[5,6],6,0,35882,"",0,0],[615983,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation",7,3,[0],[],8,1,36217,"ATAD3A",0,0],[615986,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster",7,3,[],[],8,1,36218,"ATAD3A",0,0],[616874,"Rare disorder without a determined diagnosis after full investigation",0,-1,[2],[],8,0,0,"",0,0],[617294,"Twin anemia-polycythemia sequence",0,19,[2],[4],6,0,850013,"",0,0],[617297,"Twin-reversed arterial perfusion sequence",0,19,[2],[4],6,0,850014,"",0,0],[617301,"Selective intrauterine growth restriction",0,19,[2],[4],6,0,850015,"",0,0],[617304,"Amniotic fluid embolism",0,19,[2],[6],6,0,850046,"",0,0],[617307,"Rare disorder related to monochorionic twin pregnancy",4,19,[],[],8,0,0,"",0,0],[617310,"Rare disorder due to unbalanced inter-twin blood transfusion",4,19,[],[],8,0,0,"",0,0],[617313,"Rare disorder due to inadequate sharing of the placenta",4,19,[],[],8,0,0,"",0,0],[617408,"Classic eosinophilic pustular folliculitis",0,5,[2],[5,6],6,0,850048,"",0,0],[617440,"Painful legs and moving toes syndrome",9,1,[2],[6],5,0,850049,"",0,0],[617449,"Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome",0,10,[],[],8,0,850050,"",0,0],[617910,"Conjunctival malignant melanoma",0,11,[2],[],5,0,2096,"",0,0],[617916,"Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia",0,9,[2],[6,7],5,0,22986,"",0,0],[617919,"F12-associated cold autoinflammatory syndrome",0,14,[1],[0],5,1,850053,"F12",0,0],[617930,"Hemophilia B Leyden",2,4,[],[],8,0,850054,"",0,0],[618891,"Chronic neurovisceral acid sphingomyelinase deficiency",0,2,[0],[0,1],6,1,850058,"SMPD1",0,0],[618899,"Acid sphingomyelinase deficiency",3,2,[],[],8,0,0,"",0,0],[619233,"Hereditary persistence of fetal hemoglobin-intellectual disability syndrome",0,3,[1],[0,1],5,1,850059,"BCL11A",1,0],[619238,"Rare hereditary autoinflammatory disease",4,14,[],[],8,0,0,"",0,0],[619249,"Rare hereditary connective tissue disease",4,14,[],[],8,0,0,"",0,0],[619284,"Narcolepsy",3,1,[],[],8,0,21107,"",0,0],[619340,"Inherited hematologic cancer-predisposing syndrome",4,11,[],[],8,0,850064,"",0,0],[619363,"NOCARH syndrome",0,14,[1],[0,1],5,1,850065,"CDC42",0,0],[619367,"SAMD9L-associated autoinflammatory syndrome",0,14,[2],[0],5,1,850066,"SAMD9L",0,0],[619941,"Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency",0,16,[0],[0,1],5,1,850067,"MRTFA",0,0],[619948,"Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency",0,16,[1],[1,2,5],5,1,850068,"SOCS1",0,0],[619953,"Familial hyperinflammatory lymphoproliferative immunodeficiency",0,16,[0],[0,1,2],5,1,850069,"NCKAP1L",0,0],[619972,"CADINS disease",0,16,[1],[],8,1,850070,"CARD11",0,0],[619979,"Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome",0,16,[1],[0,1],5,1,850071,"NFE2L2",0,0],[620096,"Non-syndromic unisutural craniosynostosis",3,3,[],[],8,0,850072,"",0,0],[620102,"Non-syndromic unicoronal craniosynostosis",6,3,[0],[0],4,0,850073,"",0,0],[620113,"Non-syndromic unilambdoid craniosynostosis",6,3,[0],[0],5,0,850074,"",0,0],[620139,"Non-syndromic unifrontosphenoidal craniosynostosis",6,3,[0],[0],5,0,850075,"",0,0],[620146,"Non-syndromic unisquamosal craniosynostosis",6,3,[0],[0],5,0,850076,"",0,0],[620152,"Non-syndromic multisutural craniosynostosis",3,3,[],[],8,0,850077,"",0,0],[620158,"Non-syndromic non-specific multisutural craniosynostosis",6,3,[0],[0],5,1,850078,"FUZ",0,0],[620178,"Non-syndromic bilambdoid craniosynostosis",6,3,[0],[0],5,0,850079,"",0,0],[620186,"Non-syndromic unicoronal and sagittal craniosynostosis",6,3,[0],[0],5,0,850080,"",0,0],[620192,"Non-syndromic metopic and sagittal craniosynostosis",6,3,[0],[0],5,0,850081,"",0,0],[620198,"Non-syndromic bicoronal and metopic craniosynostosis",6,3,[0],[0],5,0,850082,"",0,0],[620205,"Non-syndromic bicoronal and sagittal craniosynostosis",6,3,[0],[0],5,0,850083,"",0,0],[620212,"Non-syndromic pansynostosis",6,3,[0],[0],5,0,850084,"",0,0],[620217,"Bartter syndrome type 1",2,13,[0],[],8,1,100344,"SLC12A1",1,0],[620220,"Bartter syndrome type 2",2,13,[0],[],8,1,9424,"KCNJ1",1,0],[620363,"Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome",0,13,[1,0],[1,2],5,1,850087,"CNNM2",0,0],[620368,"EGF-related primary hypomagnesemia with intellectual disability",0,13,[0],[1,2],5,1,850088,"EGF",0,0],[620371,"Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation",0,13,[6],[3],5,2,850089,"MT-TI MT-TF",0,0],[621758,"Fibrosis-neurodegeneration-cerebral angiomatosis syndrome",0,9,[0],[0,1],5,1,32651,"NHLRC2",1,0],[622014,"Autoimmune encephalitis",3,1,[],[],8,0,20640,"",0,0],[622099,"Superior mesenteric artery syndrome",0,12,[2],[],8,0,2687,"",0,0],[622720,"Genetic autoinflammatory syndrome with skin involvement",4,14,[],[],8,0,0,"",0,0],[622914,"Rare genetic nevus",4,5,[],[],8,0,0,"",0,0],[622925,"X-linked severe syndromic thoracic aortic aneurysm and dissection",1,3,[5],[1,2,5],5,1,850095,"BGN",1,0],[622934,"SBDS-related severe neonatal spondylometaphyseal dysplasia",1,0,[0],[],8,1,850096,"SBDS",0,0],[623615,"Autoimmune limbic encephalitis",0,1,[2],[3],3,0,850097,"",0,0],[623626,"Paraneoplastic cerebellar degeneration",0,1,[2],[3],4,0,44877,"",0,0],[623638,"Immune-mediated cerebellar ataxia",3,1,[],[],8,0,859692,"",0,0],[623695,"MIR140-related spondyloepiphyseal dysplasia",1,0,[1],[],5,1,850099,"MIR140",0,0],[623789,"Body integrity dysphoria",0,1,[4],[2,5],4,0,850100,"",0,0],[623801,"Acute flaccid myelitis",0,1,[2],[1,2,5,6],3,0,100115,"",0,0],[624166,"Non-specific autoimmune supratentorial encephalitis with characteristic antibodies",0,1,[2],[3],6,0,850102,"",0,0],[624178,"Non-specific autoimmune supratentorial encephalitis without characteristic antibodies",0,1,[2],[3],6,0,850103,"",0,0],[624190,"Paraneoplastic isolated brainstem encephalitis",0,1,[2],[3],6,0,850104,"",0,0],[624199,"Non-specific autoimmune brainstem encephalitis with characteristic antibodies",0,1,[2],[3],6,0,850105,"",0,0],[624216,"Non-specific autoimmune brainstem encephalitis without characteristic antibodies",0,1,[2],[3],6,0,850106,"",0,0],[624244,"Postinfectious cerebellitis",0,1,[2],[3],6,0,850107,"",0,0],[624259,"Non-specific autoimmune cerebellar ataxia with characteristic antibodies",0,1,[2],[],8,0,850108,"",0,0],[624268,"Non-specific autoimmune cerebellar ataxia without characteristic antibodies",0,1,[2],[3],6,0,850109,"",0,0],[626609,"Rare andrological tumor",4,11,[],[],8,0,0,"",0,0],[631068,"Autosomal dominant spastic paraplegia type 80",0,1,[1],[2,5],5,1,32737,"UBAP1",1,0],[631073,"Autosomal recessive spastic paraplegia type 82",0,1,[0],[1,2],5,1,32906,"PCYT2",1,0],[631076,"Autosomal recessive spastic paraplegia type 83",0,1,[0],[2,5],5,1,33614,"HPDL",1,0],[631079,"Autosomal recessive spastic paraplegia type 84",0,1,[0],[1,2],5,1,30482,"PI4KA",0,0],[631082,"Autosomal recessive spastic paraplegia type 85",0,1,[0],[1,2],5,1,30512,"RNF170",1,0],[631085,"Autosomal recessive spastic paraplegia type 86",0,1,[0],[1,2],5,1,30673,"ABHD16A",1,0],[631088,"Autosomal recessive spastic paraplegia type 87",0,1,[0],[1,2],5,1,31019,"TMEM63C",1,0],[631095,"Spinocerebellar ataxia type 44",0,1,[1],[6],5,1,33479,"GRM1",1,0],[631103,"Spinocerebellar ataxia type 48",0,1,[1],[6],5,1,32526,"STUB1",1,0],[631106,"Spinocerebellar ataxia type 49",0,1,[1],[2,5,6],5,1,30805,"SAMD9L",0,0],[631248,"Mitchell Syndrome",0,1,[1],[],5,1,30073,"ACOX1",1,0],[631251,"Cancer of unknown primary site",0,11,[2],[],8,0,858997,"",0,0],[632603,"Mesomelic dysplasia-digital anomalies-intellectual disability syndrome",1,3,[1],[0,1],5,1,858998,"AFF3",0,0],[633004,"KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome",0,3,[1],[0,1],5,1,858999,"KDM3B",0,0],[633014,"SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome",0,1,[1,0],[1,2,5],5,0,859000,"",0,0],[633021,"SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome",2,1,[0],[],8,1,859761,"SLC12A2",1,0],[633024,"SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome",2,1,[1],[],8,1,859762,"SLC12A2",1,0],[633028,"CPE-related Prader-Willi-like syndrome",0,3,[0],[1,2],5,1,859001,"CPE",1,0],[633035,"Intellectual disability-early-onset cataract-microcephaly syndrome",1,3,[0],[1],5,1,859002,"COPB1",0,0],[633076,"Split cord malformation, composite type",6,3,[4],[],5,0,1060222,"",0,0],[633099,"PAICS deficiency",1,3,[0],[],5,1,859003,"PAICS",0,0],[633124,"Invasive scopulariopsis infection",0,8,[2],[2,5,6,7],5,0,859004,"",0,0],[633211,"Preaxial digit brachydactyly-webbed fingers",1,3,[1],[],8,0,859005,"",0,0],[633228,"Isolated proximal femoral focal deficiency",6,3,[4],[0],3,0,859006,"",0,0],[634461,"Mosaic neurofibromatosis type 1",0,1,[4],[0,1],2,1,859763,"NF1",0,0],[634475,"Mosaic NF2-related schwannomatosis",0,18,[2],[0,1],6,1,859764,"NF2",0,0],[634492,"Mosaic schwannomatosis",0,1,[2],[0,1],4,0,859765,"",0,0],[634511,"Mosaic Legius syndrome",0,5,[2],[],8,0,859007,"",0,0],[634518,"Neurofibromatosis/schwannomatosis",4,1,[],[],8,0,859008,"",0,0],[636941,"Vascular Ehlers-Danlos-polymicrogyria syndrome",0,14,[0],[0,1],5,1,32688,"COL3A1",1,0],[636945,"Invasive candidiasis",0,8,[2],[1,6,7],3,0,44067,"",0,0],[636950,"Glaucomatocyclitic crisis disease",0,10,[2],[5,6],6,0,4772,"",0,0],[636955,"Endemic pemphigus foliaceus",0,5,[2],[3],4,0,43257,"",0,0],[636965,"Autosomal dominant myosin storage myopathy",2,1,[1],[],8,1,8409,"MYH7",0,0],[636970,"Autosomal recessive myosin storage myopathy",2,1,[0],[],8,1,9708,"MYH7",1,0],[637013,"SMARCA2-related blepharophimosis-intellectual disability syndrome",1,3,[1],[1,2,5],5,1,859139,"SMARCA2",1,0],[637051,"Borna virus encephalitis",0,8,[2],[5,6,7],5,0,957421,"",0,0],[637061,"Isolated optic nerve hypoplasia",6,3,[1,0],[],5,0,8136,"",0,0],[637064,"Isolated optic nerve aplasia",6,3,[1,0],[0,1],5,0,958342,"",0,0],[641343,"Imprinting disorders",3,21,[],[],8,0,0,"",0,0],[641350,"Immunotherapy induced hypophysitis",0,15,[2],[3],2,0,957423,"",0,0],[641353,"Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome",0,1,[0],[0,1],5,1,33613,"HPDL",1,0],[641361,"Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome",0,1,[0],[1],5,1,859200,"EXOSC5",1,0],[641368,"Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency",0,16,[0],[1],5,1,32654,"ZNF341",1,0],[641372,"B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)",7,11,[2],[],8,2,957427,"AUTS2 PAX5",0,0],[641375,"B-lymphoblastic leukemia/lymphoma with t(17;19)",7,11,[2],[],8,2,957428,"HLF TCF3",0,0],[641380,"PAPASH syndrome",0,14,[2],[5,6],5,0,958343,"",0,0],[641385,"PASS syndrome",0,14,[2],[6],5,0,958256,"",0,0],[641390,"PsAPASH syndrome",0,14,[2],[6],5,0,958257,"",0,0],[641496,"Childhood-onset schizophrenia",0,1,[3],[2,5],2,0,957430,"",0,0],[641613,"Endogenous Cushing syndrome",4,15,[],[],8,0,957431,"",0,0],[641829,"Neonatal compartment syndrome",9,23,[2],[0],5,0,957432,"",0,0],[642071,"Primary pulmonary vein stenosis",0,3,[2],[],8,0,957433,"",0,0],[642085,"EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity",0,0,[0],[0,1],5,1,32724,"EXOC6B",1,0],[642099,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",0,0,[0],[0,1],5,1,10075,"B3GALT6",1,0],[642671,"Familial hyperaldosteronism type IV",0,15,[1],[2,6],5,1,14875,"CACNA1H",1,0],[642675,"CHD8 overgrowth syndrome",0,3,[1],[8],5,1,14017,"CHD8",1,0],[642691,"Fragile X-associated primary ovarian insufficiency",0,15,[0],[],8,1,10706,"FMR1",1,0],[642747,"PUM1-related cerebellar ataxia",0,1,[1],[6],5,1,33482,"PUM1",1,0],[642763,"Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation",1,3,[1],[1,2],5,1,44323,"H1-4",1,0],[642788,"Cushing syndrome due to cortisol-producing adrenocortical adenoma",0,15,[2],[],8,0,958258,"",0,0],[642945,"Perrault syndrome type 1",2,3,[0],[],8,10,9300,"DAP3 HSD17B4 TWNK HARS2 RMND1 CLPP LARS2 ERAL1 GGPS1 PRORP",1,0],[642954,"Autosomal recessive ataxia due to PEX16 deficiency",0,1,[0],[],8,1,957442,"PEX16",0,0],[642965,"Autosomal recessive ataxia due to PEX2 deficiency",0,1,[0],[2,5],5,1,957443,"PEX2",0,0],[642976,"Perrault syndrome type 2",2,3,[0],[],8,9,13972,"HSD17B4 TWNK HARS2 RMND1 CLPP LARS2 ERAL1 GGPS1 PRORP",1,0],[643503,"Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome",0,3,[1],[0],5,1,60532,"ABL1",1,0],[643538,"Hao-Fountain syndrome due to USP7 mutation",7,3,[1],[],8,1,958071,"USP7",1,0],[643549,"Hao-Fountain syndrome",0,3,[1],[0,1],5,0,14805,"",1,0],[645188,"Spinal dermal sinus",6,3,[4],[],8,0,958344,"",0,0],[645193,"Dysraphism with stalk",3,3,[],[],8,0,958259,"",0,0],[645196,"Limited dorsal myeloschisis",3,3,[],[],8,0,958345,"",0,0],[645202,"Closed spinal dysraphism",3,3,[],[],8,0,859,"",0,0],[645270,"Open spinal dysraphism with a posterior meningocele",3,3,[],[],8,0,0,"",0,0],[645273,"Dysraphic spinal cord lipoma",3,3,[],[],8,0,958260,"",0,0],[645276,"Spinal cord lipoma",3,3,[],[],8,0,1790,"",0,0],[645279,"Fibrolipomatous filum anomaly",3,3,[],[],8,0,0,"",0,0],[645282,"Anomaly of the filum",3,3,[],[],8,0,0,"",0,0],[645285,"Chaotic conus spinal cord lipoma",6,3,[4],[],8,0,968986,"",0,0],[645288,"Terminal extramedullary conus spinal cord lipoma",2,3,[4],[],8,0,970957,"",0,0],[645291,"Transitional extramedullary conus spinal cord lipoma",2,3,[4],[],8,0,970958,"",0,0],[645294,"Posterior extramedullary conus spinal cord lipoma",2,3,[4],[],8,0,970959,"",0,0],[645297,"Extramedullary conus spinal cord lipoma",6,3,[4],[],8,0,968987,"",0,0],[645300,"Lipomatous non-saccular limited dorsal myeloschisis",10,3,[4],[],8,0,970960,"",0,0],[645310,"Fibroneural non-saccular limited dorsal myeloschisis",10,3,[4],[],8,0,970961,"",0,0],[645319,"Saccular spinal dysraphism with a stalk to the dome",3,3,[],[],8,0,968988,"",0,0],[645322,"Isolated transitional filum lipoma",6,3,[4],[],8,0,958346,"",0,0],[645325,"Isolated filum lipoma",6,3,[4],[],8,0,958347,"",0,0],[645334,"Retained medullary cord",6,3,[4],[],8,0,958348,"",0,0],[645337,"Terminal myelocystocele",6,3,[4],[],8,0,970962,"",0,0],[645340,"Non-terminal myelocystocele",6,3,[4],[],8,0,957451,"",0,0],[645343,"Non-saccular limited dorsal myeloschisis",6,3,[4],[],8,0,968989,"",0,0],[645350,"Segmental arterial mediolysis",0,23,[4],[],8,0,957452,"",0,0],[645354,"Saccular limited dorsal myeloschisis",6,3,[4],[],8,0,970963,"",0,0],[645359,"Intramedullary non-dysraphic spinal cord lipoma",6,3,[4],[],8,0,958075,"",0,0],[645362,"Dorsal spinal cord lipoma",6,3,[4],[],8,0,958349,"",0,0],[645367,"Conus spinal cord lipoma",3,3,[],[],8,0,958350,"",0,0],[645378,"Myelic limited dorsal malformation",6,3,[4],[],8,0,970964,"",0,0],[645383,"True myelomeningocele",2,3,[4],[],8,0,957453,"",0,0],[645388,"Hemi-myelomeningocele",2,3,[4],[],8,0,957454,"",0,0],[645393,"Hemi-myeloschisis",2,3,[4],[],8,0,958351,"",0,0],[645398,"Myeloschisis",6,3,[4],[],8,0,958076,"",0,0],[645401,"True myeloschisis",2,3,[4],[],8,0,958352,"",0,0],[645613,"Classical dermatomyositis",2,14,[2],[],8,0,957456,"",0,0],[645617,"Amyopathic dermatomyositis",2,14,[2],[],8,0,43317,"",0,0],[645626,"Adermatopathic dermatomyositis",2,14,[2],[],8,0,957458,"",0,0],[645749,"Congenital esophageal stenosis",6,3,[2],[0,1,2,5],3,0,957459,"",0,0],[645793,"Spontaneous intestinal perforation",0,12,[2],[],8,0,957460,"",0,0],[645814,"Primary pulmonary tuberculosis",2,8,[2],[],8,1,957462,"SLC11A1",0,0],[645854,"Multifocal tuberculosis",2,8,[2],[],8,0,957465,"",0,0],[646098,"Collagen VI-related congenital muscular dystrophy",3,1,[],[],8,0,958077,"",0,0],[646113,"Intermediate collagen VI-related muscular dystrophy",0,1,[1,0],[],8,3,958353,"COL6A1 COL6A2 COL6A3",0,0],[646136,"Dysplastic cortical hyperostosis, Al-Gazali type",2,0,[0],[],8,0,11051,"",0,0],[646139,"Dysplastic cortical hyperostosis",1,0,[0],[],8,0,16357,"",0,0],[646278,"CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome",0,3,[1],[1,2],5,1,44302,"CDK13",1,0],[647667,"Mandibuloacral dysplasia associated to MTX2",1,0,[0],[2],5,1,30880,"MTX2",1,0],[647676,"Multiple epiphyseal dysplasia type 7",0,0,[0],[2],5,1,54680,"CANT1",0,0],[647681,"Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome",1,3,[1],[],8,1,957473,"ERF",0,0],[647758,"Adrenal Cushing syndrome",3,15,[],[],8,0,20529,"",0,0],[647768,"Rare adrenocortical nodular disease with Cushing syndrome as a major feature",3,15,[],[],8,0,0,"",0,0],[647772,"Isolated primary pigmented nodular adrenocortical disease",0,15,[1],[],8,2,958262,"PRKAR1A PDE11A",0,0],[647782,"Isolated micronodular adrenocortical disease",0,15,[1],[],8,2,958263,"PDE11A PDE8B",0,0],[647788,"Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome",0,1,[1],[],8,1,60622,"DHX30",1,0],[647794,"Isolated persistent urogenital sinus",6,3,[4],[],8,0,957476,"",0,0],[647799,"MYT1L-related developmental delay-intellectual disability-obesity syndrome",0,1,[1],[],8,1,957477,"MYT1L",0,0],[647804,"Combined immunodeficiency due to FCHO1 deficiency",0,16,[0],[],8,1,30898,"FCHO1",1,0],[647811,"Cardiac-urogenital syndrome",0,3,[1],[],8,1,32653,"MYRF",1,0],[647815,"Keratitis fugax hereditaria",0,10,[1],[],8,1,7849,"NLRP3",0,0],[647823,"Idiopathic pregnancy-associated osteoporosis",0,19,[4],[],8,0,957481,"",0,0],[647834,"SLC40A1-related hemochromatosis",0,17,[1],[],8,1,11631,"SLC40A1",1,0],[647916,"Conjoined twins",1,3,[2],[],8,0,958083,"",0,0],[648559,"Rare scleritis",3,10,[],[],8,0,0,"",0,0],[648562,"Ferroportin disease",0,17,[1],[],8,1,11631,"SLC40A1",1,0],[648569,"Non-HFE-related hemochromatosis",3,17,[],[],8,0,0,"",0,0],[648581,"Digenic hemochromatosis",0,17,[10],[],8,4,958085,"TFR2 HAMP HFE HJV",0,0],[648665,"Infectious scleritis",0,10,[2],[],8,0,958264,"",0,0],[648675,"Idiopathic scleritis",0,10,[2],[],8,0,958265,"",0,0],[648681,"Immune-mediated scleritis",0,10,[2],[3],3,0,958266,"",0,0],[648684,"Central retinal artery occlusion",0,10,[2],[3],2,0,1633,"",0,0],[648919,"Idiopathic catatonia",0,1,[2],[],5,0,957487,"",0,0],[648992,"Non-syndromic bridging bronchus",6,3,[4],[4,0,1],5,0,958267,"",0,0],[649010,"Non-syndromic congenital bronchial atresia",6,3,[4],[6],3,0,958268,"",0,0],[649014,"Bronchial malformation",3,3,[],[],8,0,0,"",0,0],[649017,"Rare adrenocortical nodular disease",3,15,[],[],8,0,0,"",0,0],[649029,"Isolated left bronchial isomerism",6,3,[4],[6,7],5,0,958269,"",0,0],[649929,"Central precocious puberty in male",3,15,[],[],8,0,958270,"",0,0],[650063,"Rare central precocious puberty",3,15,[],[],8,0,19165,"",1,0],[650070,"Rare central precocious puberty in female",3,15,[],[],8,0,0,"",0,0],[650077,"Genetic central precocious puberty in female",0,15,[1],[],3,3,958354,"KISS1R DLK1 MKRN3",0,0],[650082,"Secondary central precocious puberty in female",0,15,[2],[],8,0,958355,"",0,0],[650087,"Primary central precocious puberty in male",0,15,[0,2],[],8,0,958356,"",0,0],[650092,"Secondary central precocious puberty in male",0,15,[2],[],8,0,958357,"",0,0],[650097,"Genetic central precocious puberty in male",2,15,[1],[],8,4,968990,"KISS1R DLK1 KISS1 MKRN3",0,0],[650102,"Non-genetic central precocious puberty in male",2,15,[2],[],8,0,968991,"",0,0],[650182,"Genetic central precocious puberty",3,15,[],[],8,0,0,"",0,0],[650187,"Rare peripheral precocious puberty in female",3,15,[],[],8,0,0,"",0,0],[652487,"Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome",1,3,[1],[],8,1,957397,"SRRM2",1,0],[652510,"Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa",3,14,[],[],8,0,0,"",0,0],[652514,"Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation",2,3,[1],[],8,1,958273,"MEIS2",0,0],[652519,"Cleft palate-congenital heart defect-intellectual disability syndrome",0,3,[1],[],8,0,958091,"",0,0],[652522,"Periodic fever-immunodeficiency-thrombocytopenia syndrome",0,14,[0],[1,2],8,1,7883,"WDR1",1,0],[652528,"Supernumerary kidney",6,3,[4],[0],5,0,958093,"",0,0],[652532,"Adult-onset progressive leukoencephalopathy-early-onset deafness",0,1,[0],[6],5,1,958094,"KARS1",0,0],[652650,"Nodal T-follicular helper cell lymphoma, follicular type",0,11,[2],[],8,0,958095,"",0,0],[652658,"Monomorphic epitheliotropic intestinal T-cell lymphoma",0,11,[2],[],8,0,958096,"",0,0],[652668,"Primary superior vena cava aneurysm",1,3,[2],[],8,0,958097,"",0,0],[652678,"Primary inferior vena cava aneurysm",6,3,[2],[],8,0,958098,"",0,0],[652681,"Idiopathic subglottic stenosis",0,18,[2],[],8,0,958099,"",0,0],[653434,"Autoinflammatory syndrome with acne and/or hidradenitis suppurativa",3,14,[],[],8,0,0,"",0,0],[653698,"Lymphocytic mastitis",0,19,[2],[],8,0,958101,"",0,0],[653709,"Cone rod dystrophy-short stature syndrome",0,10,[0],[2],5,1,60507,"CFAP410",0,0],[653712,"CHD4-related neurodevelopmental disorder",0,3,[1],[1,2],5,1,14946,"CHD4",1,0],[653722,"Digenic Alport syndrome",2,13,[1,0],[],8,3,958104,"COL4A3 COL4A4 COL4A5",0,0],[653725,"Autosomal recessive limb-girdle muscular dystrophy, type 28",0,1,[0],[2,5,6],5,1,957270,"HMGCR",1,0],[653728,"Congenital insensitivity to pain syndrome, Marsili type",0,1,[1],[0,1,2],5,1,958106,"ZFHX2",0,0],[653751,"X-linked combined immunodeficiency due to SASH3 deficiency",0,16,[5],[2,5,6],5,1,24781,"SASH3",1,0],[653767,"Jansen-de Vries syndrome",0,3,[1],[1],5,1,44318,"PPM1D",1,0],[653880,"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency",0,2,[0],[0,1,2],5,1,14563,"ECHS1",1,0],[656071,"Atrophic papulosis",0,5,[2],[6],5,0,958110,"",0,0],[656085,"Benign atrophic papulosis",2,5,[2],[],8,0,958274,"",0,0],[656126,"Segmental spinal dysgenesis",0,3,[2],[],8,0,958275,"",0,0],[656130,"PBX1-related congenital anomalies of kidney-urinary tract syndrome",0,3,[1],[],8,1,60549,"PBX1",1,0],[656135,"Intellectual disability-cupped ears syndrome",0,3,[1],[],8,1,32830,"POU3F3",1,0],[656279,"1p36.33 duplication syndrome",0,1,[2],[],8,3,32933,"ATAD3A ATAD3B ATAD3C",0,0],[656283,"Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency",0,0,[0],[],8,1,958115,"IL6ST",0,0],[656300,"Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency",0,16,[0],[],8,1,958116,"IL6ST",0,0],[656313,"Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency",0,16,[1],[],8,1,958117,"IL6ST",0,0],[656326,"Autosomal recessive combined immunodeficiency due to IL6R deficiency",0,16,[0],[],8,1,958118,"IL6R",0,0],[656417,"Embryonal tumor with multilayered rosettes",0,11,[3],[],8,0,958119,"",0,0],[656912,"Autosomal dominant combined immunodeficiency due to ERBIN deficiency",0,16,[1],[],8,1,958120,"ERBIN",0,0],[658540,"16q22 deletion syndrome",1,3,[1],[],8,0,13798,"",0,0],[658549,"Idiopathic small fibers neuropathy",0,1,[2],[],8,0,958122,"",0,0],[658574,"Isolated pulmonary artery sling",6,3,[2],[],8,0,958123,"",0,0],[658584,"Rowell syndrome",0,14,[3],[6],5,0,41186,"",0,0],[658590,"Eyelid sebaceous carcinoma",0,11,[2],[7],5,0,21588,"",0,0],[658595,"DNMT3A-related microcephalic dwarfism",1,3,[1],[4,0],5,1,32882,"DNMT3A",1,0],[658602,"Transplant-related bronchiolitis obliterans",0,9,[2],[],8,0,958127,"",0,0],[658612,"Non-transplant-related bronchiolitis obliterans",0,9,[2],[],8,0,958128,"",0,0],[658778,"COQ7-related distal hereditary motor neuropathy",0,1,[0],[],5,1,958129,"COQ7",0,0],[658805,"Greig cephalopolysyndactyly-contiguous gene syndrome",1,3,[1],[4],5,0,958130,"",0,0],[658810,"Atrophoderma of Pasini and Pierini",0,5,[4],[6],5,0,22513,"",0,0],[658813,"Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency",0,2,[0],[1],5,1,60611,"MTHFD1",1,0],[658843,"Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome",1,3,[1],[4,0,1],5,1,15021,"EBF3",1,0],[658909,"Fasciolopsiasis",0,8,[2],[],8,0,4672,"",0,0],[658913,"Paragonimiasis",0,8,[2],[],8,0,5895,"",0,0],[658917,"Clonorchiasis",0,8,[2],[],8,0,5705,"",0,0],[658946,"Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency",0,16,[5],[1,2],5,1,958137,"DOCK11",0,0],[658951,"Early-onset immune dysregulation due to DOCK11 complete deficiency",0,16,[5],[1,2],5,1,958138,"DOCK11",0,0],[659387,"PRC-2 complex-related overgrowth spectrum",3,3,[],[],8,0,971047,"",0,0],[659396,"Cohen-Gibson syndrome",1,3,[1],[4,0],5,1,60510,"EED",1,0],[659463,"Imagawa-Matsumoto syndrome",1,3,[1],[4,0],5,1,32916,"SUZ12",1,0],[659609,"Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome",1,3,[1],[4,0],5,1,32820,"RAC3",1,0],[659626,"Single isolated optic neuritis",2,10,[2],[],8,0,971049,"",0,0],[659634,"Relapsing isolated optic neuritis",2,10,[2],[],8,0,971050,"",0,0],[659642,"Rauch-Steindl syndrome",1,3,[1],[4],5,1,859219,"NSD2",1,0],[659672,"Harderoporphyria",0,2,[0],[0],5,1,30048,"CPOX",1,0],[659681,"Erythropoietic porphyria",3,2,[],[],8,0,1676,"",0,0],[659694,"Hepatic porphyria",3,2,[],[],8,0,2520,"",0,0],[659698,"Hepatic cutaneous porphyria",3,2,[],[],8,0,971154,"",0,0],[659702,"Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome",1,3,[1],[4,0],5,1,14948,"ARCN1",1,0],[659707,"Yersinia pseudotuberculosis infection",0,8,[2],[],8,0,7024,"",0,0],[659712,"Rare yersiniosis",4,8,[],[],8,0,0,"",0,0],[659744,"Ocular surface squamous neoplasia",0,11,[2],[2,5,6,7],5,0,971056,"",0,0],[659756,"Oroya fever",2,8,[2],[],8,0,18984,"",0,0],[659759,"Verruga peruana",2,8,[2],[],8,0,971058,"",0,0],[659873,"Wormian bones-micrognathia-abnormal dentition-progeroid syndrome",1,3,[1],[0,1],5,1,859147,"LEMD2",1,0],[659904,"Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome",1,3,[1],[],5,1,971007,"PRR12",1,0],[659908,"Glanders",0,8,[2],[],8,0,5774,"",0,0],[659975,"Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome",1,3,[0],[],5,1,859206,"AFG2B",1,0],[660012,"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation",7,1,[1],[],8,1,971062,"NR4A2",0,0],[660017,"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome",0,1,[1],[1,2],5,0,859257,"",1,0],[660021,"Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome",1,3,[1],[],5,1,971064,"AMOTL1",1,0],[660053,"Psittacosis",0,8,[2],[],8,0,5888,"",0,0],[661412,"Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency",0,4,[0],[0,1],5,1,971066,"SLC19A1",0,0],[661526,"MBD4-related tumor predisposition syndrome",0,11,[0],[6],5,1,859267,"MBD4",1,0],[662169,"Phelan-McDermid syndrome due to 22q13.3 deletion",7,3,[2],[],8,1,971068,"SHANK3",0,0],[662172,"Phelan-McDermid syndrome due to SHANK3 mutation",7,3,[1],[],8,1,971069,"SHANK3",0,0],[662175,"Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome",1,3,[1],[0],5,1,32943,"SPOP",1,0],[662179,"Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome",1,3,[1],[1],5,1,32942,"SPOP",2,0],[662184,"Congenital muscular dystrophy-cataract-intellectual disability syndrome",0,1,[0],[0,1,2],5,1,24607,"INPP5K",1,0],[662189,"Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome",1,3,[1],[0,1],5,1,859297,"HNRNPR",1,0],[662198,"Neurodevelopmental delay-intellectual disability-skeletal defects syndrome",1,3,[7],[0,1],5,1,10512,"HNRNPH2",1,0],[662207,"Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome",1,3,[1],[1],5,1,859301,"HNRNPH1",1,0],[662216,"Mucopolysaccharidosis type 10",0,2,[0],[2],5,1,30524,"ARSK",1,0],[662229,"Episodic memory defect leukoencephalopathy",0,1,[1],[],8,1,971077,"LAMB1",0,0],[662234,"Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome",1,3,[1],[],5,1,859143,"SPEN",1,0],[662240,"Frey syndrome",9,1,[2],[1],6,0,7753,"",0,0],[662255,"Grisel syndrome",9,14,[2],[2],5,0,971080,"",0,0],[662367,"NESCAV syndrome",0,1,[1],[1,2],5,1,13656,"KIF1A",1,0],[662376,"Isolated gastric duplication",6,3,[2],[0,1,2,6],3,0,971082,"",0,0],[662388,"Isolated gallbladder duplication",6,3,[2],[],8,0,971083,"",0,0],[662392,"Isolated colonic duplication",6,3,[2],[],8,0,971084,"",0,0],[662405,"Isolated pyloric duplication",6,3,[2],[0],5,0,971085,"",0,0],[662456,"Isolated small intestine duplication",6,3,[2],[0,1],5,0,971086,"",0,0],[662473,"Isolated duodenal duplication",2,3,[2],[],8,0,978306,"",0,0],[662480,"Isolated jejuno-ileal duplication",2,3,[2],[],8,0,978307,"",0,0],[662721,"Placenta accreta spectrum disorder",0,19,[2],[],8,0,5916,"",0,0],[662762,"Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome",1,3,[1],[],8,1,859324,"ARPC4",1,0],[662786,"Vasa previa",0,19,[2],[],8,0,971089,"",0,0],[662829,"Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome",0,3,[1],[],8,1,60763,"BCL11B",1,0],[662934,"Acute megakaryoblastic leukemia in adult",2,11,[2],[],8,0,971091,"",0,0],[664372,"Soft and hard cleft palate",6,3,[3],[],8,0,971092,"",0,0],[664377,"MGP-related spondyloepiphyseal dysplasia",1,0,[1],[],8,1,971093,"MGP",0,0],[664401,"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation",7,3,[1],[],8,1,971094,"TAB2",1,0],[664404,"6q25.1 microdeletion syndrome",7,3,[2],[],8,1,971095,"TAB2",0,0],[664410,"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome",1,3,[1,2],[],8,0,13266,"",1,0],[664416,"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation",7,3,[1],[],8,1,975751,"MEF2C",0,0],[664430,"Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome",1,3,[0],[],8,1,958278,"SLC4A10",1,0],[664438,"Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome",1,3,[1],[],8,1,32886,"KCNMA1",1,0],[664450,"Inherited cancer-predisposing lymphoproliferative syndrome",4,11,[],[],8,0,0,"",0,0],[664456,"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility",3,16,[],[],8,0,0,"",0,0],[664482,"Primary hemophagocytic lymphohistiocytosis without hypopigmentation",4,16,[],[],8,0,0,"",0,0],[664500,"Hermansky-Pudlak syndrome due to AP3B1 deficiency",2,16,[0],[],8,1,11997,"AP3B1",1,0],[664511,"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency",2,16,[0],[],8,1,14885,"AP3D1",1,0],[664699,"EBV-induced lymphoproliferative disease due to RASGRP1 deficiency",0,16,[0],[],8,1,32803,"RASGRP1",1,0],[664711,"EBV-induced lymphoproliferative disease due to PRKCD deficiency",0,16,[0],[],8,1,8000024,"PRKCD",1,0],[664726,"EBV-induced lymphoproliferative disease due to CD137 deficiency",0,16,[0],[2],5,1,859526,"TNFRSF9",1,0],[664729,"EBV-induced lymphoproliferative disease due to TET2 deficiency",0,16,[0],[2],5,1,30858,"TET2",1,0],[664734,"EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature",3,16,[],[],8,0,0,"",0,0],[664787,"Nicolau syndrome",9,5,[2],[],5,0,971103,"",0,0],[664901,"Trigeminal trophic syndrome",0,1,[2],[6,7],5,0,800478,"",0,0],[664912,"Neonatal renal venous thrombosis",0,13,[4],[4,0],4,0,971105,"",0,0],[664923,"Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome",1,3,[0],[],8,1,32838,"SMPD4",1,0],[665044,"Common arterial trunk with aortic dominance",2,3,[2],[],8,2,971107,"TBX1 GATA6",0,0],[665058,"Common arterial trunk with pulmonary dominance and interrupted aortic arch",2,3,[2],[],8,3,971108,"NKX2-6 TBX1 GATA6",0,0],[667589,"Isolated congenital femoral bifurcation",6,3,[4],[],8,0,971109,"",0,0],[667662,"Breast implant-associated anaplastic large cell lymphoma",0,11,[2],[6,7],8,7,850112,"BRCA1 BRCA2 TP53 JAK2 STAT3 STAT3 JAK1",0,0],[667678,"Intraoral basal cell carcinoma",0,11,[12],[],8,0,971111,"",0,0],[672979,"Craniosynostosis-facial dysmorphism-brachydactyly syndrome",1,3,[1],[],8,1,14128,"TCF12",1,0],[672985,"Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome",1,3,[1],[],8,1,14705,"ZIC1",1,0],[673466,"Malignant vascular tumor",3,23,[],[],8,0,2095,"",0,0],[673470,"Benign vascular tumor",3,23,[],[],8,0,971115,"",0,0],[673473,"Borderline vascular tumor",3,23,[],[],8,0,971116,"",0,0],[673525,"Intravascular papillary endothelial hyperplasia",0,5,[2],[],8,0,43349,"",0,0],[673538,"Littoral cell hemangioma of the spleen",0,11,[2],[],8,0,975752,"",0,0],[673543,"Papillary hemangioma",0,11,[2],[],8,0,975753,"",0,0],[673556,"Pseudomyogenic hemangioendothelioma",0,11,[2],[],8,4,975754,"SERPINE1 ACTB WWTR1 FOSB",0,0],[673568,"Eccrine angiomatous hamartoma",0,5,[2],[],8,0,975755,"",0,0],[673574,"Reactive angioendotheliomatosis",0,11,[2],[],8,0,975756,"",0,0],[673580,"Classic pilocytic astrocytoma",2,11,[2],[],8,0,3999,"",0,0],[673585,"Pilocytic astrocytoma with histological features of anaplasia",2,11,[2],[],8,0,971118,"",0,0],[674499,"Proteoglycan-related bone disorder",4,0,[],[],8,0,971119,"",0,0],[674648,"Syndrome with congenital phagocyte functional defect as a major feature",4,16,[],[],8,0,0,"",0,0],[674653,"Actinomyopathy-associated syndromic thrombocytopenia",0,4,[1],[0,1,2],8,1,100433,"ACTB",1,0],[674762,"Early-onset autoinflammatory syndrome due to A20 haploinsufficiency",0,14,[1],[],8,1,800045,"TNFAIP3",1,0],[674896,"Non-syndromic congenital phagocyte functional defect",4,16,[],[],8,0,0,"",0,0],[674924,"Isolated retinal racemose hemangioma",0,10,[2],[],8,0,971123,"",0,0],[674930,"Perifoveal exudative vascular anomalous complex",0,10,[4],[],8,0,971124,"",0,0],[674935,"Torpedo Maculopathy",0,10,[2],[3],5,0,971125,"",0,0],[674943,"Isolated angioid streaks",0,10,[2],[6,7],6,0,971126,"",0,0],[674947,"Diffuse unilateral subacute neuroretinitis",0,10,[2],[],8,0,971127,"",0,0],[674953,"Multiple evanescent white dot syndrome",0,10,[2],[],8,0,971128,"",0,0],[674958,"Stellate multiform amelanotic choroidopathy",0,10,[4],[6],5,0,971129,"",0,0],[674965,"Choroidal osteoma",0,10,[2],[3],5,0,971130,"",0,0],[674968,"Bilateral diffuse uveal melanocytic proliferation disease",0,10,[2],[],8,0,971131,"",0,0],[675216,"Spinocerebellar ataxia type 27B",0,1,[1],[],8,1,859340,"FGF14",0,0],[675359,"Anastomosing hemangioma",0,11,[2],[1,5,6,7],5,3,975757,"GNAQ GNA11 GNA14",0,0],[675362,"Hobnail hemangioma",0,23,[2],[3],5,0,3258,"",0,0],[675369,"Microvenular hemangioma",0,23,[2],[6],5,0,975758,"",0,0],[675380,"Isolated segmental infantile hemangioma",0,3,[2],[],8,0,971133,"",0,0],[675396,"Epithelioid hemangioma",0,11,[2],[],8,5,21169,"LMNA VIM FOS ZFP36L2 FOSB",0,0],[675404,"May-Thurner syndrome",0,23,[2],[],8,0,43361,"",0,0],[675597,"Acquired elastotic hemangioma",0,23,[2],[6,7],5,0,975759,"",0,0],[675628,"TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome",0,16,[5],[],8,1,24777,"TLR8",1,0],[675767,"Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency",0,16,[1],[],5,1,32899,"SRP54",1,0],[675775,"Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome",0,11,[0],[],5,1,971137,"RBSN",0,0],[675782,"Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN",0,3,[0],[1],5,1,971138,"RBSN",0,0],[675814,"Adenomatoid tumor of the pleura",0,11,[2],[],8,0,24326,"",0,0],[675822,"Well-differentiated papillary mesothelial tumor of the pleura",0,11,[2],[],8,0,971140,"",0,0],[675833,"Localized pleural mesothelioma",2,11,[2],[],8,0,971141,"",0,0],[675837,"Diffused pleural mesothelioma",2,11,[2],[],8,0,971142,"",0,0],[675841,"Pleural mesothelioma in situ",2,11,[2],[],8,0,971143,"",0,0],[675976,"Adenomatoid tumor of the peritoneum",0,11,[2],[],8,0,978310,"",0,0],[676030,"Primary benign peritoneal tumor",4,11,[],[],8,0,0,"",0,0],[676033,"Well-differentiated papillary mesothelial tumor of the peritoneum",0,11,[2],[],8,0,6364,"",0,0],[676036,"Peritoneal mesothelioma in situ",0,11,[2],[],8,0,971145,"",0,0],[676039,"Combined immunodeficiency due to FOXN1 haploinsufficiency",0,16,[1],[0,1,2],5,1,32928,"FOXN1",1,0],[676125,"X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency",0,16,[5],[1],5,1,24770,"ELF4",1,0],[684216,"Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome",1,3,[1,0],[],5,1,32922,"TET3",1,0],[684226,"Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome",1,3,[1],[0,1],5,1,30917,"KMT5B",1,0],[684232,"Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome",1,3,[1],[],5,1,975882,"SATB1",0,0],[684240,"Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome",1,1,[0],[],5,1,30878,"YIF1B",1,0],[684247,"Isolated growth hormone deficiency type IV",2,15,[0],[],8,1,32567,"GHRHR",1,0],[684290,"Hypertrophic olivary degeneration",0,1,[2],[],5,0,975885,"",0,0],[684305,"Neurooculocardiogenitourinary syndrome",0,3,[1],[0,1],5,1,32850,"WDR37",1,0],[684742,"2q13 microdeletion syndrome",1,3,[1],[],8,2,975887,"FBLN7 TMEM87B",0,0],[684752,"Isolated anal canal duplication",6,3,[2],[2],5,0,978312,"",0,0],[684757,"Malformation of the anal canal and the rectum",4,3,[],[],8,0,0,"",0,0],[685004,"Primary pericardial mesothelioma",0,11,[2],[],6,0,3805,"",0,0],[685010,"Mesothelioma of the tunica vaginalis",0,11,[2],[7],5,0,975890,"",0,0],[685017,"Combined immunodeficiency due to TBX1 mutation",0,3,[1],[0,1],5,1,975891,"TBX1",0,0],[685067,"Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome",0,3,[0],[],8,1,32584,"TSPEAR",1,0],[685082,"Pediatric acute respiratory distress syndrome",0,9,[3],[],8,3,100131,"SFTPB SFTPC ABCA3",0,0],[686462,"Non-fibrotic hypersensitivity pneumonitis",2,9,[2],[],8,0,975895,"",0,0],[686465,"Fibrotic hypersensitivity pneumonitis",2,9,[2],[],8,1,975896,"MUC5B",0,0],[686468,"Post 5-alpha-reductase inhibitors treatment syndrome",0,1,[2],[],8,0,975897,"",0,0],[686475,"Post-selective serotonin reuptake inhibitor sexual dysfunction",0,1,[2],[],8,0,975898,"",0,0],[686482,"BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome",1,3,[1],[],5,1,60596,"BPTF",1,0],[686488,"RNU4-2-related autosomal dominant neurodevelopmental disorder",1,3,[1],[4,0],5,1,971172,"RNU4-2",1,0],[686495,"MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome",0,3,[0],[1],5,1,33561,"MADD",1,0],[686556,"Isolated congenital cholesteatoma of the middle ear",6,3,[4],[],8,0,975902,"",0,0],[686999,"Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome",0,1,[0],[],5,1,958034,"PLAAT3",1,0],[687424,"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion",7,3,[1],[],8,1,975904,"ZMYND11",0,0],[687695,"10p13-p14 deletion syndrome",1,3,[2],[],8,0,975905,"",0,0],[687730,"Unifocal Langerhans cell histiocytosis",2,14,[2],[],8,1,975906,"BRAF",0,0],[687733,"Pulmonary Langerhans cell histiocytosis",2,14,[2],[],8,1,975907,"BRAF",0,0],[687738,"Single-system multifocal Langerhans cell histiocytosis",2,14,[2],[],8,1,975908,"BRAF",0,0],[687741,"Multisystem Langerhans cell histiocytosis",2,14,[2],[],8,1,975909,"BRAF",0,0],[688523,"Splenic venous malformation",0,3,[2],[],8,0,975910,"",0,0],[688543,"T-B-NK- reticular dysgenesis-like severe combined immunodeficiency",0,16,[1],[],8,1,975911,"RAC2",0,0],[688563,"Combined immunodeficiency with normal Ig and poor specific antibody response",3,16,[],[],8,0,0,"",0,0],[688571,"Combined immunodeficiency with low immunoglobulins and normal B cells",3,16,[],[],8,0,0,"",0,0],[688581,"Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome",1,3,[5],[],5,1,10516,"AMMECR1",1,0],[688594,"Combined immunodeficiency due to RELB deficiency",0,16,[0],[1],5,1,54696,"RELB",1,0],[688642,"Turnpenny-Fry syndrome",1,3,[1],[],5,1,32707,"PCGF2",1,0],[688649,"Isolated adrenal medullary hyperplasia",0,15,[2],[],5,0,6077,"",0,0],[688995,"Scarlet fever",0,8,[2],[],8,0,5952,"",0,0],[689001,"Isolated spontaneous cervical artery dissection",0,1,[2],[],8,0,1040011,"",0,0],[689021,"Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome",0,1,[0],[],8,1,975918,"ANO5",0,0],[689231,"IFIH1-related hereditary spastic paraplegia",0,1,[1],[],8,1,975919,"IFIH1",0,0],[689234,"RNASEH2B-related hereditary spastic paraplegia",0,1,[0],[0,1],5,1,975920,"RNASEH2B",0,0],[689397,"Poirier-Bienvenu neurodevelopmental syndrome",1,3,[0],[0,1],5,1,32889,"CSNK2B",1,0],[689401,"Acquired hypothalamic obesity",0,15,[2],[],8,0,975922,"",0,0],[689408,"Shashi-Pena syndrome",1,3,[1],[],5,1,14963,"ASXL2",1,0],[689422,"Okur-Chung neurodevelopmental syndrome",1,3,[1],[],5,0,14893,"",1,0],[689430,"Adenoid ameloblastoma",0,6,[2],[],5,1,975925,"CTNNB1",0,0],[689822,"Structural heart defects-renal anomalies syndrome",1,3,[0],[4,0],5,1,44321,"TMEM260",1,0],[689829,"Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome",0,3,[1,0],[0],5,1,14229,"RARB",1,0],[692173,"Marbach-Schaaf neurodevelopmental syndrome",0,1,[1],[0,1],5,1,859214,"PRKAR1B",1,0],[692193,"CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome",1,3,[1],[1,2],5,1,14699,"CHAMP1",2,0],[692256,"Isolated anogenital granulomatosis",0,26,[2],[2,5,6,7],6,0,979257,"",0,0],[692271,"Cerebral proliferative angiopathy",0,3,[4],[2,5,6],4,0,979258,"",0,0],[692296,"Idiopathic triglyceride deposit cardiomyovasculopathy",7,7,[4],[],8,0,700393,"",0,0],[692305,"Triglyceride deposit cardiomyovasculopathy",0,7,[0,4],[],6,0,979259,"",0,0],[692790,"ATP6AP1-CDG",0,2,[5],[4,0,1],5,1,10504,"ATP6AP1",1,0],[692812,"RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome",0,16,[1,0],[1],5,1,979261,"RAC2",0,0],[693549,"Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome",1,3,[1],[0],5,1,32908,"MN1",1,0],[693627,"Agammaglobulinemia-skin involvement-failure to thrive syndrome",0,16,[0],[1],5,1,30519,"SLC39A7",1,0],[693647,"Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome",0,16,[0],[0,1],5,1,100432,"FNIP1",1,0],[693661,"Activated PI3K-delta syndrome 1",0,16,[1],[0,1,2],4,1,14222,"PIK3CD",1,0],[693681,"Activated PI3K-delta syndrome 2",0,16,[1],[],8,1,14453,"PIK3R1",1,0],[693802,"Neonatal/infantile-onset epilepsy syndrome",3,1,[],[],8,0,100022,"",1,0],[693815,"Uterine arteriovenous malformation",1,3,[2],[6],5,0,0,"",0,0],[693826,"Pancreatic arteriovenous malformation",1,3,[2],[3],5,0,0,"",0,0],[693832,"Gastrointestinal tract arteriovenous malformation",1,3,[2],[0,1,2],5,0,0,"",0,0],[693839,"Renal arteriovenous malformation",1,3,[2],[2,5,6],6,0,0,"",0,0],[693846,"Hepatic arteriovenous malformation",1,3,[2],[0],5,0,0,"",0,0],[693855,"Visceral fast-flow vascular malformation",3,3,[2],[],8,0,0,"",0,0],[693863,"Splenic arteriovenous malformation",1,3,[2],[0],5,0,0,"",0,0],[693869,"Gallblader arteriovenous malformation",1,3,[2],[6,7],5,0,0,"",0,0],[693872,"Urinary tract arteriovenous malformation",1,3,[2],[4,0,1],6,0,0,"",0,0],[693907,"RASA1-related capillary malformation-arteriovenous malformation",1,3,[1],[4,0],5,1,20783,"RASA1",1,0],[693912,"EPHB4-related capillary malformation-arteriovenous malformation",1,3,[1],[0],5,1,20785,"EPHB4",1,0],[694228,"Congenital intrahepatic arterioportal fistula",1,3,[2],[1,2],5,0,979271,"",0,0],[694304,"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome",0,3,[1],[1],5,0,14486,"",1,0],[694308,"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation",7,3,[1],[],8,1,14486,"ZMYND11",1,0],[694356,"ADAR-related hereditary spastic paraplegia",0,1,[1],[],8,1,979273,"ADAR",0,0],[694922,"Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome",0,1,[0],[0,1],5,1,100095,"ADPRS",1,0],[694937,"Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency",1,3,[0],[1],5,1,859240,"NUDT2",1,0],[694946,"Alazami-Yuan syndrome",1,3,[0],[1],5,1,14931,"TAF6",1,0],[694956,"Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome",1,3,[1],[1],5,1,859231,"ZBTB7A",1,0],[694963,"Inflammatory breast cancer",0,11,[2],[6,7],3,2,6804,"BRCA1 BRCA2",0,0],[695020,"Urachal carcinoma",0,11,[2],[6],5,0,3715,"",0,0],[695023,"Pure squamous carcinoma of the urothelial tract",0,11,[2],[6],6,0,979280,"",0,0],[695032,"Giant omphalocele",2,3,[2],[],8,0,979281,"",0,0],[695038,"Small omphalocele",2,3,[2],[],8,0,979282,"",0,0],[695110,"MAN2B2-CDG",0,2,[0],[1],5,1,976261,"MAN2B2",0,0],[695131,"Acinar cystic transformation of the pancreas",0,12,[2],[2,5,6,7],5,0,979284,"",0,0],[695136,"Infant-type hemispheric glioma",0,11,[2],[0,1],5,0,858940,"",0,0],[695140,"Sickle cell-beta zero-thalassemia",7,4,[0],[],8,1,979286,"HBB",0,0],[695147,"Sickle cell-beta plus-thalassemia",7,4,[0],[],8,1,979287,"HBB",0,0],[695164,"Combined immunodeficiency with low B cells and hypogammaglobulinemia",4,16,[],[],8,0,0,"",0,0],[695172,"Combined immunodeficiency due to dimerization defective IKAROS mutation",0,16,[1],[1,2,5],5,1,979288,"IKZF1",0,0],[695183,"Late-onset combined immunodeficiency due to ICOS deficiency",0,16,[0],[],8,1,11864,"ICOS",1,0],[695191,"Late-onset combined immunodeficiency due to ICOSL deficiency",0,16,[0],[2,6],6,1,979290,"ICOSLG",0,0],[695611,"3q27.1 microdeletion syndrome",1,3,[1],[1],5,0,979291,"",0,0],[695631,"Primary vitreoretinal large B-cell lymphoma",0,11,[2],[6,7],5,0,4351,"",0,0],[695783,"EDEM3-CDG",0,1,[0],[0,1],5,1,30423,"EDEM3",1,0],[695807,"Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome",0,16,[1],[0,1],5,1,30308,"SYK",1,0],[696063,"PLIN4-related distal myopathy",0,1,[1],[6],5,1,11155,"PLIN4",1,0],[696078,"Central giant cell granuloma",0,11,[2],[6],5,0,6770,"",0,0],[696175,"Encapsulating peritoneal sclerosis",0,24,[2],[6],5,0,1010131,"",0,0],[696189,"Congenital generalized lipodystrophy type 1",2,15,[0],[0,1],5,1,12071,"AGPAT2",1,0],[696206,"Congenital generalized lipodystrophy type 3",2,15,[0],[0,1],5,1,12923,"CAV1",1,0],[696242,"PPARG-associated congenital generalized lipodystrophy",2,15,[0],[0,1],8,1,979300,"PPARG",0,0],[696289,"Congenital generalized lipodystrophy type 2",2,15,[0],[4,0,1],5,1,10020,"BSCL2",1,0],[696830,"Female adnexal tumor of probable Wolffian origin",0,11,[2],[6,7],6,0,4255,"",0,0],[696851,"Common variable immunodeficiency and related disorders",4,16,[],[2,5,6],3,0,0,"",0,0],[696857,"Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations",0,16,[3],[2,5,6],6,0,0,"",0,0],[696863,"Common variable immunodeficiency phenotype due to somatic mutations",0,16,[2],[2,5,6],6,0,0,"",0,0],[696870,"Common variable immunodeficiency phenotype due to germinal monogenic mutation",4,16,[],[],8,0,0,"",0,0],[696874,"NFKB1-related immune dysregulation",0,16,[1],[2,5,6],5,1,14697,"NFKB1",1,0],[696881,"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency",0,16,[0],[2],5,2,0,"CD19 CD81",0,0],[696894,"Common variable immunodeficiency phenotype due to CD21 deficiency",0,16,[0],[],8,1,13862,"CR2",1,0],[696897,"Congenital megaprepuce",6,3,[3],[0],5,0,700340,"",0,0],[696904,"Common variable immunodeficiency phenotype due to IRF2BP2 deficiency",0,16,[1],[2,5],5,1,54691,"IRF2BP2",1,0],[696907,"Common variable immunodeficiency phenotype due to homozygous TACI deficiency",0,16,[0],[2],5,1,0,"TNFRSF13B",0,0],[696925,"Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency",0,16,[0],[5,6],6,1,13284,"TNFRSF13C",1,0],[696931,"Common variable immunodeficiency phenotype due to TWEAK deficiency",0,16,[1],[2,5],5,1,0,"TNFSF12",0,0],[696942,"Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency",0,16,[0],[2],5,1,32763,"ARHGEF1",1,0],[696945,"X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency",0,16,[5],[1,2],5,1,10296,"SH3KBP1",1,0],[697053,"Talaromycosis",0,8,[2],[3],6,0,304,"",0,0],[697067,"Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome",1,3,[0],[1,2],6,1,859208,"BCAS3",1,0],[697091,"Emergomycosis",0,8,[2],[3],5,0,979307,"",0,0],[697096,"Cryptosporidiosis",0,8,[2],[3],3,0,15474,"",0,0],[697101,"Fontaine progeroid syndrome",0,3,[1],[0],5,0,12853,"",2,0],[697132,"Lymphoepithelial cyst of the pancreas",0,12,[2],[6],5,0,979310,"",0,0],[697160,"Infantile epileptic spasms syndrome",0,1,[1,0,7],[0,1,2],3,13,18097,"SCN2A CDKL5 ARX PIGA SPTAN1 PLCB1 GRIN2B WDR45 NTRK2 SIK1 GUF1 CNPY3 PHACTR1",0,0],[697356,"Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome",1,3,[1],[0,1,2],5,1,968978,"FOSL2",1,0],[697385,"Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency",0,16,[1],[2],5,0,30333,"",1,0],[697389,"Combined immunodeficiency due to HELIOS deficiency",0,16,[1,0],[1,2,6],5,1,800139,"IKZF2",1,0],[697394,"Combined immunodeficiency due to c-REL deficiency",0,16,[0],[1,2],5,1,30498,"REL",1,0],[697403,"Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency",0,16,[1],[0,1],5,1,979315,"CHUK",0,0],[697414,"Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation",0,16,[1],[1],5,1,979316,"IKZF1",0,0],[697417,"Common variable immunodeficiency phenotype due to SEC61A1 deficiency",0,16,[1],[2],5,1,958013,"SEC61A1",1,0],[697734,"ST3GAL3-CDG",0,2,[0],[1],5,1,979317,"ST3GAL3",0,0],[697760,"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome",1,3,[1],[1,2],5,0,32832,"",1,0],[697764,"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation",7,3,[1],[],8,1,32832,"CNOT2",1,0],[697986,"Congenital peritoneal encapsulation",1,3,[2],[4,6],5,0,979319,"",0,0],[698005,"Epilepsy with generalized tonic-clonic seizures alone",0,1,[3],[2,5,6],6,0,5754,"",0,0],[698012,"Fibromuscular dysplasia",0,23,[2],[],8,0,6761,"",0,0],[698036,"Fibromuscular dysplasia of the cervical and intracranial arteries",2,23,[2],[6],6,0,980997,"",0,0],[698043,"Fibromuscular dysplasia of the renal arteries",2,23,[2],[6],6,0,980998,"",0,0],[698059,"Fibromuscular dysplasia of the coronary arteries",2,23,[2],[6,7],2,0,980999,"",0,0],[698063,"Fibromuscular dysplasia of the visceral arteries",2,23,[2],[6],6,0,981000,"",0,0],[698069,"Fibromuscular dysplasia of the arteries of the extremities",2,23,[2],[6],4,0,981001,"",0,0],[698085,"Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome",1,3,[0],[4,0,1],5,1,859298,"TMEM147",1,0],[698090,"Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome",1,3,[1],[0,1],5,1,15022,"BRPF1",1,0],[698260,"Carotid web",0,3,[2],[6],6,0,979323,"",0,0],[698914,"Platelet-activating anti-platelet factor 4 disorder",3,4,[],[],8,0,0,"",0,0],[698945,"Autoimmune heparin-induced thrombocytopenia",0,14,[2],[6,7],5,0,0,"",0,0],[699021,"Spontaneous heparin-induced thrombocytopenia",0,14,[2],[6,7],5,0,0,"",0,0],[699029,"Vaccine-induced immune thrombotic thrombocytopenia",0,14,[2],[2,5,6,7],6,0,0,"",0,0],[699057,"Annular erythema of infancy",0,5,[2],[0,1],5,0,979325,"",0,0],[699068,"Fontan-associated liver disease",0,17,[2],[2,5,6],4,0,979326,"",0,0],[699578,"Combined immunodeficiency with low Ig due to BCL10 deficiency",0,16,[0],[1],5,0,979327,"",0,0],[699590,"Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency",0,16,[0],[0,1,2],5,1,979328,"IKZF3",0,0],[699593,"Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency",2,16,[0],[],8,1,0,"IKZF3",0,0],[699596,"Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency",2,16,[],[],8,0,0,"",0,0],[699599,"ICHAD syndrome",0,3,[1],[4,0],5,1,979234,"IKZF2",1,0],[699605,"NEMO deleted exon 5 autoinflammatory syndrome",0,14,[7,5],[0,1,2],5,1,800129,"IKBKG",1,0],[699615,"Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency",0,16,[0],[],8,1,958011,"IRF1",1,0],[699618,"Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency",0,16,[0],[1,2],5,1,33541,"IFNG",1,0],[699645,"Variable age-onset epilepsy syndrome",3,1,[],[],8,0,100619,"",0,0],[699678,"Necrotizing cellulitis",2,8,[2],[],8,0,979334,"",0,0],[699683,"Fibro-adipose vascular anomaly",0,3,[2],[2,5],5,0,979335,"",0,0],[699697,"Necrotizing fasciitis",2,8,[2],[],8,0,4835,"",0,0],[699702,"Necrotizing myositis",2,8,[2],[6,7],3,0,979337,"",0,0],[699708,"CLN14 disease",0,1,[0],[1],5,1,12721,"KCTD7",1,0],[699718,"Infantile CLN1 disease",2,1,[0],[],8,1,979339,"PPT1",0,0],[699734,"Late infantile CLN1 disease",2,1,[0],[],8,1,979340,"PPT1",0,0],[699739,"Juvenile CLN1 disease",2,1,[0],[],8,1,979341,"PPT1",0,0],[699745,"Adult CLN1 disease",2,1,[0],[],8,1,979342,"PPT1",0,0],[699751,"Infantile CLN2 disease",2,1,[0],[],8,1,979343,"TPP1",0,0],[699761,"Late infantile CLN2 disease",2,1,[0],[],8,1,979344,"TPP1",0,0],[699769,"Juvenile CLN2 disease",2,1,[0],[],8,1,979345,"TPP1",0,0],[699780,"Juvenile CLN3 disease",2,1,[0],[],8,1,979346,"CLN3",0,0],[699796,"Protracted juvenile CLN3 disease",2,1,[0],[],8,1,979347,"CLN3",0,0],[699802,"Late infantile CLN5 disease",2,1,[0],[],8,1,979348,"CLN5",0,0],[699807,"Juvenile CLN5 disease",2,1,[0],[],8,1,979349,"CLN5",0,0],[699812,"Adult CLN5 disease",2,1,[0],[],8,1,979350,"CLN5",0,0],[699822,"Sickle cell S-Lepore disease",2,4,[],[],8,2,981004,"HBB HBD",0,0],[699835,"Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome",1,3,[],[0,1],5,0,32715,"",1,0],[699844,"Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome",1,3,[],[4,0,1],5,0,32779,"",1,0],[699850,"2p25.3 microduplication syndrome",1,1,[1],[4,0,1],5,2,979353,"PXDN MYT1L",0,0],[700085,"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant",0,4,[],[],8,0,979354,"",0,0],[700090,"Sickle cell S-O Arab disease",2,4,[],[],8,1,981005,"HBB",0,0],[700107,"Sickle cell S-other specified hemoglobin variant",2,4,[],[4,0,1],5,1,0,"HBB",0,0],[700111,"Homozygous hemoglobin O Arab disease",0,4,[0],[0,1],5,1,979355,"HBB",0,0],[700124,"Autosomal recessive hereditary chronic pancreatitis",0,12,[0],[2,5,6],6,2,979356,"CFTR SPINK1",0,0],[700133,"Idiopathic chronic pancreatitis",0,12,[2],[2,5,6],2,0,979357,"",0,0],[700136,"Early-onset idiopathic chronic pancreatitis",2,12,[2],[5,6],3,0,981007,"",0,0],[700139,"Late-onset idiopathic chronic pancreatitis",2,12,[2],[7],3,0,981008,"",0,0],[700143,"X-linked distal myopathy",4,1,[],[],8,0,0,"",0,0],[700154,"TARDBP-related predominantly upper-limb distal myopathy",0,1,[1],[6],5,1,979359,"TARDBP",0,0],[700160,"ADNP-related blepharophimosis-intellectual disability syndrome",0,3,[1],[4,0,1,2],5,1,979360,"ADNP",0,0],[700163,"SMPX-related distal myopathy",0,1,[5],[],8,1,24771,"SMPX",1,0],[700170,"DNAJB4-related distal myopathy",0,1,[1],[],8,1,979361,"DNAJB4",0,0],[700188,"Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy",0,1,[1],[6],6,1,979362,"RYR1",0,0],[700205,"Combined immunodeficiency due to IKBKB gain-of-function mutation",0,16,[1],[4,0,1],5,1,32599,"IKBKB",1,0],[700286,"Congenital high airway obstruction syndrome",9,3,[],[4],6,0,1060125,"",0,0],[700325,"NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome",1,3,[5],[4,0,1],5,1,26733,"NKAP",1,0],[700333,"Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency",2,1,[0],[],8,1,14777,"UNC80",1,0],[700336,"Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency",2,1,[0],[],8,1,24567,"NALCN",1,0],[700467,"Late infantile CLN6 disease",2,1,[0],[],8,1,979367,"CLN6",0,0],[700472,"Juvenile CLN6 disease",2,1,[0],[],8,1,979368,"CLN6",0,0],[700477,"Adult CLN6 disease",2,1,[0],[],8,1,8768,"CLN6",1,0],[700484,"Late infantile CLN8 disease",2,1,[0],[],8,1,979370,"CLN8",0,0],[700487,"Congenital CLN10 disease",2,1,[0],[],8,1,979371,"CTSD",0,0],[700492,"Late infantile CLN10 disease",2,1,[0],[],8,1,979372,"CTSD",0,0],[700497,"Juvenile CLN10 disease",2,1,[0],[],8,1,979373,"CTSD",0,0],[700508,"Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy",0,1,[0],[2],6,1,30055,"SORD",1,0],[707786,"Thalassemia",4,4,[],[],8,0,0,"",0,0],[707789,"Unstable alpha globin chain variant disease",0,4,[1],[1,2],6,2,0,"HBA2 HBA1",0,0],[707792,"Unstable gamma globin chain variant disease",0,4,[1],[0],5,1,0,"HBG2",0,0],[707937,"Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome",1,3,[0],[0],5,1,0,"PIEZO2",0,0],[707944,"Peripheral fast-flow vascular malformation",3,3,[],[],8,0,0,"",0,0],[707983,"Early-onset autosomal recessive TTN-related distal myopathy",0,1,[0],[2],5,1,0,"TTN",0,0],[707993,"Methemoglobinemia-related cyanosis",4,4,[],[],8,0,0,"",0,0],[708007,"Intramuscular fast-flow vascular anomaly",1,23,[2],[0,1,2],6,0,0,"",0,0],[708014,"Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome",1,5,[1],[0,1,2],6,1,0,"IRF6",0,0],[708019,"Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome",1,3,[1],[0],5,1,0,"PRKD1",0,0],[708036,"Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth",1,5,[0],[0,1,2],5,1,0,"KREMEN1",0,0],[708043,"Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples",1,5,[1],[4,0],5,1,0,"LEF1",0,0],[708046,"Peripheral arteriovenous malformation",1,3,[2],[5,6],6,0,0,"",0,0],[708051,"Peripheral arteriovenous fistula",1,23,[2],[0],6,0,0,"",0,0],[708123,"Autosomal dominant distal nebulin myopathy",0,1,[1],[1,2],5,1,0,"NEB",0,0],[708126,"DNAJB6-related distal myopathy",0,1,[1],[6],5,1,0,"DNAJB6",0,0],[708129,"Autosomal recessive ACTN2-related distal myopathy",0,1,[0],[],8,1,0,"ACTN2",0,0],[708133,"Autosomal dominant ACTN2-related distal myopathy",0,1,[1],[6],5,1,0,"ACTN2",0,0],[708166,"Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome",1,3,[0],[4,0],5,1,0,"TM2D3",0,0],[708171,"Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy",1,3,[0],[0,1],5,1,0,"WWOX",0,0],[708178,"Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome",1,3,[1],[0,1],5,1,0,"ZNF148",0,0],[708203,"Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome",1,3,[7],[0,1],5,1,0,"SMC1A",0,0],[708208,"Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome",1,3,[1],[1],5,1,0,"POLR2A",0,0],[708651,"Phosphoribosylformylglycinamidine synthase deficiency",0,2,[0],[0,1],5,1,0,"PFAS",0,0],[708684,"Eosinophilic cystitis",0,26,[2],[3],5,0,0,"",0,0],[708881,"Phenylalanine hydroxylase deficiency",3,2,[],[],8,0,1060259,"",0,0],[708895,"Tetrahydrobiopterin-unresponsive phenylketonuria",2,2,[0],[],8,1,1060258,"PAH",0,0],[714041,"Straatsma syndrome",0,10,[2],[0,1],6,0,0,"",0,0],[714046,"Primary choroidal lymphoma",0,11,[2],[7],5,1,0,"MYD88",0,0],[714070,"Incomplete congenital stationary night blindness, Schubert-Bornschein type",2,10,[0,5],[],8,3,0,"CABP4 CACNA1F CACNA2D4",0,0],[714079,"Complete congenital stationary night blindness, Schubert-Bornschein type",2,10,[0],[],8,4,0,"GRM6 TRPM1 GPR179 LRIT3",0,0],[714090,"Congenital stationary night blindness, Schubert-Bornschein type",0,10,[0,5],[0],6,0,0,"",0,0],[714096,"Congenital stationary night blindness, Riggs type",0,10,[1,0],[0],5,3,0,"RHO GNAT1 PDE6B",0,0],[714101,"Acute idiopathic maculopathy",0,10,[2],[2,6,7],6,0,0,"",0,0],[714109,"Ocular siderosis",0,10,[2],[6],6,0,0,"",0,0],[714138,"Circumscribed choroidal hemangioma",0,10,[2],[6],6,0,0,"",0,0],[714150,"Stellate non-hereditary idiopathic foveomacular retinoschisis",0,10,[2],[6],6,0,0,"",0,0],[714154,"Idiopathic multifocal choroiditis",0,10,[2],[6],5,0,0,"",0,0],[714160,"Presumed ocular histoplasmosis syndrome",0,10,[2],[2],6,0,0,"",0,0],[714164,"Acute posterior multifocal placoid pigment epitheliopathy",0,10,[],[],6,0,0,"",0,0],[714385,"Global developmental delay-high pain tolerance-intellectual disability syndrome",0,1,[1],[1],5,1,0,"DEAF1",0,0],[714399,"Global developmental delay-dental enamel defects-ataxia syndrome",0,1,[1],[1,2],5,1,0,"CTBP1",0,0],[714404,"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome",1,3,[1],[4,0],5,0,0,"",0,0],[714407,"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation",7,3,[1],[],8,1,0,"NFIB",0,0],[714410,"CARD8-related inflammatory bowel disease",0,12,[1],[2],5,1,0,"CARD8",0,0],[714413,"9p23p22.2 microdeletion syndrome",7,3,[],[],8,1,0,"NFIB",0,0],[714423,"Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome",0,12,[1],[1],5,1,0,"STXBP3",0,0],[714429,"Pseudo-TORCH syndrome type 3",0,1,[],[4,0],5,1,0,"STAT2",0,0],[714472,"Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome",0,12,[1],[1,2],5,1,0,"BACH2",0,0],[714477,"Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome",0,12,[0],[1,2,5],5,1,0,"ANKZF1",0,0],[714481,"SCGN-related severe early-onset hereditary ulcerative colitis",0,12,[0],[2],5,1,0,"SCGN",0,0],[714484,"AGR2-related infantile-onset inflammatory bowel disease",0,12,[0],[1],5,1,0,"AGR2",0,0],[714487,"Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome",0,12,[0],[0],5,1,0,"WNT2B",0,0],[714490,"PERCC1-related congenital intractable malabsorptive diarrhea",0,12,[0],[0],5,1,0,"PERCC1",0,0],[714493,"Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency",0,16,[0],[0,1],5,1,0,"WIPF1",0,0],[714496,"Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome",0,16,[0],[0],5,1,0,"ARPC1B",0,0],[714652,"PCDH19 clustering epilepsy",0,1,[7],[1,2],6,1,0,"PCDH19",0,0],[714692,"Congenital disseminated pyogenic granuloma",0,11,[2],[4,0],5,0,0,"",0,0],[714698,"Fast-flow vascular malformation of the thoraco-abdominal-pelvic cavity",3,23,[],[],8,0,0,"",0,0],[714702,"Abdominal arteriovenous malformation",6,3,[2],[0,1,2],6,0,0,"",0,0],[714709,"Mediastinal arteriovenous malformation",6,3,[2],[],5,0,0,"",0,0],[714715,"Pelvic arteriovenous malformation",6,3,[2],[0],5,0,0,"",0,0],[714726,"Retroperitoneal arteriovenous malformation",6,3,[2],[6],5,0,0,"",0,0],[714734,"Sinus pericranii",6,23,[2],[0,1,2],5,0,0,"",0,0],[714737,"Diffuse capillary malformation with overgrowth",6,3,[2],[0],5,2,0,"PIK3CA GNA11",0,0],[714785,"Unifocal sporadic venous malformation",6,3,[2],[0],2,2,0,"PIK3CA TEK",0,0],[714806,"Multifocal sporadic venous malformation",6,3,[2],[0,1,2],6,1,0,"TEK",0,0],[714829,"Immune checkpoint inhibitor-induced myositis",0,14,[2],[],6,0,0,"",0,0],[715025,"Spinal fast-flow vascular malformation",3,1,[],[],8,0,0,"",0,0],[715120,"Hyperpituitarism",4,15,[],[],8,0,0,"",0,0],[715125,"Hemoglobin E-beta-thalassemia intermedia",2,4,[0],[],8,1,0,"HBB",0,0],[715128,"Hemoglobin E-beta-thalassemia major",2,4,[0],[],8,2,0,"HBB HBB",0,0],[715135,"Hemoglobin Lepore-beta-thalassemia intermedia",2,4,[0],[],8,2,0,"HBB HBD",0,0],[715140,"Hemoglobin Lepore-beta-thalassemia major",2,4,[0],[],8,2,0,"HBB HBD",0,0],[715143,"Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene",0,4,[0],[2],6,3,0,"HBA2 HBB HBA1",0,0],[715147,"Low oxygen affinity hemoglobin disease",0,4,[1],[0,1],6,0,0,"",0,0],[715154,"Low oxygen affinity alpha chain hemoglobin disease",7,4,[1],[],8,1,0,"HBA2",0,0],[715157,"Low oxygen affinity beta chain hemoglobin disease",7,4,[1],[],8,1,0,"HBB",0,0],[715284,"Spinal cord arteriovenous malformation, nidus type",6,3,[2],[3],6,0,0,"",0,0],[715307,"Acquired spinal dural arteriovenous fistula",6,23,[2],[6,7],6,0,0,"",0,0],[715318,"Intracranial dural arteriovenous fistula",0,23,[2],[2,6],6,0,0,"",0,0],[715326,"Spinal epidural arteriovenous malformation",6,3,[4],[4,0,1],5,0,0,"",0,0],[715331,"Paraspinal arteriovenous malformation",6,3,[2],[4,0,1],5,0,0,"",0,0],[715334,"Unifocal peripheral venous malformation",3,23,[],[],8,0,0,"",0,0],[715339,"Multifocal peripheral venous malformation",3,3,[],[],8,0,0,"",0,0],[715345,"Isolated geographic pattern capillary malformation",6,3,[2],[4,0,1],6,0,0,"",0,0],[715353,"Isolated reticulated capillary malformation",6,3,[2],[4,0,1],5,0,0,"",0,0],[715359,"Isolated low resistance capillary malformation",6,3,[2],[0,1],6,0,0,"",0,0],[715446,"Geographic pattern capillary malformation",3,3,[],[],8,0,0,"",0,0],[715453,"Reticulated capillary malformation",3,23,[],[],8,0,0,"",0,0],[715460,"Syndromic geographic pattern capillary malformation",3,3,[],[],8,0,0,"",0,0],[715463,"Low resistance capillary malformation",3,3,[],[],8,0,0,"",0,0],[715466,"Syndromic low resistance capillary malformation",3,23,[],[],8,0,0,"",0,0],[715623,"Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome",1,1,[0],[0,1,2,5],5,1,0,"RFC4",0,0],[715635,"Rothmund-Thomson syndrome type 4",2,3,[0],[],8,1,0,"DNA2",0,0],[715640,"Rothmund-Thomson syndrome type 3",2,3,[0],[],8,1,0,"CRIPT",0,0],[715694,"Infant-type hemispheric glioma NTRK-altered",7,11,[2],[],8,3,0,"NTRK1 NTRK3 NTRK2",0,0],[715697,"Infant-type hemispheric glioma ALK-altered",7,11,[2],[],8,1,0,"ALK",0,0],[715701,"Infant-type hemispheric glioma ROS1-altered",7,11,[2],[],8,1,0,"ROS1",0,0],[715704,"Infant-type hemispheric glioma MET-altered",7,11,[2],[],8,1,0,"MET",0,0],[715721,"High-grade astrocytoma with piloid features",0,11,[2],[6],5,4,0,"ATRX CDKN2A NF1 CDKN2B",0,0],[715724,"Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype",0,11,[2],[2,5],6,0,0,"",0,0],[715744,"Fast-flow vascular malformation of the central nervous system",3,23,[],[],8,0,0,"",0,0],[715750,"Intracranial fast-flow vascular malformation",3,23,[],[],8,0,0,"",0,0],[715757,"Metameric fast-flow vascular malformation",3,23,[],[],8,0,0,"",0,0],[715762,"Unifocal fast-flow vascular malformation",3,23,[],[],8,0,0,"",0,0],[715845,"Idiopathic acute exudative polymorphous vitelliform maculopathy",2,10,[2],[],8,0,0,"",0,0],[715850,"Paraneoplastic acute exudative polymorphous vitelliform maculopathy",2,10,[2],[],8,0,0,"",0,0],[715855,"Acute exudative polymorphous vitelliform maculopathy",0,10,[2],[6],5,0,0,"",0,0],[715862,"Melanocytoma of the optic disc and optic nerve",0,11,[2],[6],6,0,0,"",0,0],[715923,"Intraosseous venous malformation",6,3,[0],[4,0],6,0,0,"",0,0],[715950,"Diffuse hemispheric glioma-H3 G34-mutant",0,11,[2],[5,6],6,1,0,"H3-3A",0,0],[716109,"Global developmental delay-facial dysmorphism-brachydactyly syndrome",1,3,[1],[0,1,2],5,1,0,"DDB1",0,0],[716116,"Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome",1,3,[1],[],8,1,0,"CUL3",0,0],[716195,"Rare inflammatory choroidal disorder",4,10,[],[],8,0,0,"",0,0],[716198,"Rare paraneoplastic choroidal disorder",4,10,[],[],8,0,0,"",0,0],[716201,"Rare vascular choroidal disorder",4,10,[],[],8,0,0,"",0,0],[716204,"Rare neoplastic choroidal disorder",4,10,[],[],8,0,0,"",0,0],[716207,"Rare benign neoplastic choroidal disorder",4,10,[],[],8,0,0,"",0,0],[716210,"Rare malignant neoplastic choroidal disorder",4,11,[],[],8,0,0,"",0,0],[716213,"Rare isolated developmental choroidal disorder",4,10,[],[],8,0,0,"",0,0],[716290,"Rare predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[716293,"Rare non-progressive predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[716296,"Rare isolated non-progressive predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[716299,"Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature",4,10,[],[],8,0,0,"",0,0],[716304,"Rare progressive predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[716342,"Rare disorder with progressive predominantly chorioretinal disorder as a major feature",4,10,[],[],8,0,0,"",0,0],[716348,"Rare isolated progressive predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[716358,"Rare generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[716361,"Rare progressive generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[716364,"Rare non-progressive generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[716367,"Rare isolated non-progressive generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[716393,"Rare disorder with non-progressive generalized retinal disorder as a major feature",4,10,[],[],8,0,0,"",0,0],[716405,"Rare disorder with progressive generalized retinal disorder as a major feature",4,10,[],[],8,0,0,"",0,0],[716410,"Rare isolated progressive generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[716413,"Rare non-progressive predominantly macular disorder",4,10,[],[],8,0,0,"",0,0],[716416,"Rare progressive predominantly macular disorder",4,10,[],[],8,0,0,"",0,0],[716419,"Rare isolated non-progressive predominantly macular disorder",4,10,[],[],8,0,0,"",0,0],[716422,"Rare disorder with non-progressive predominantly macular disorder as a major feature",4,10,[],[],8,0,0,"",0,0],[716427,"Rare disorder with progressive predominantly macular disorder as a major feature",4,10,[],[],8,0,0,"",0,0],[716432,"Rare isolated progressive predominantly macular disorder",4,10,[],[],8,0,0,"",0,0],[716435,"Rare non-progressive vitreoretinopathy",4,10,[],[],8,0,0,"",0,0],[716438,"Rare progressive vitreoretinopathy",4,10,[],[],8,0,0,"",0,0],[716441,"Rare isolated progressive vitreoretinopathy",4,10,[],[],8,0,0,"",0,0],[716446,"Rare disorder with progressive vitreoretinopathy disorder as a major feature",4,10,[],[],8,0,0,"",0,0],[716450,"Rare non-progressive retinal vasculopathy",4,10,[],[],8,0,0,"",0,0],[716455,"Rare progressive retinal vasculopathy",4,10,[],[],8,0,0,"",0,0],[716459,"Rare disorder with progressive retinal vasculopathy as a major feature",4,10,[],[],8,0,0,"",0,0],[716466,"Rare isolated progressive retinal vasculopathy",4,10,[],[],8,0,0,"",0,0],[716742,"Congenital myasthenic syndrome with kinetic defect",7,1,[1,0],[],8,0,0,"",0,0],[716758,"Fast-channel congenital myasthenic syndrome",7,1,[1,0],[],8,4,0,"CHRNA1 CHRNB1 CHRND CHRNE",0,0],[716765,"Slow-channel congenital myasthenic syndrome",7,1,[1,0],[],8,4,0,"CHRNA1 CHRNB1 CHRND CHRNE",0,0],[716772,"Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance",7,1,[0],[],8,1,0,"CHRNE",0,0],[716816,"Congenital myasthenic syndrome with primary acetylcholine receptor deficiency",7,1,[0],[],8,4,0,"CHRNA1 CHRNB1 CHRND CHRNE",0,0],[716825,"Congenital myasthenic syndrome due to defects in endplate development and maintenance",7,1,[0],[],8,4,0,"DOK7 MUSK LRP4 AGRN",0,0],[716881,"Congenital myasthenic syndrome due to a sodium channel 1.4 defect",7,1,[0],[],8,1,0,"SCN4A",0,0],[716889,"Congenital myasthenic syndrome due to defective axonal transport",7,1,[0],[],8,1,0,"MYO9A",0,0],[716893,"Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine",7,1,[0],[],8,4,0,"CHAT PREPL SLC5A7 SLC18A3",0,0],[716899,"Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis",7,1,[1,0],[],8,0,0,"",0,0],[716903,"Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis",7,1,[0],[],8,6,0,"UNC13A VAMP1 SNAP25 SYT2 LAMA5 RPH3A",0,0],[716908,"Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis",7,1,[1],[],8,1,0,"SYT2",0,0],[716913,"Congenital myasthenic syndrome associated with ubiquitously expressed proteins",7,1,[0],[],8,0,0,"",0,0],[716917,"Congenital myasthenic syndrome with mitochondrial defect",7,1,[0],[],8,2,0,"SLC25A1 TEFM",0,0],[717257,"Rare genetic predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[717260,"Rare genetic generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[717268,"Circumscribed astrocytic glioma",4,11,[],[],8,0,0,"",0,0],[717308,"Rare genetic non-progressive predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[717311,"Rare genetic isolated non-progressive predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[717314,"Rare genetic progressive predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[717317,"Rare genetic isolated progressive predominantly chorioretinal disorder",4,10,[],[],8,0,0,"",0,0],[717321,"Rare genetic progressive generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[717324,"Rare genetic isolated progressive generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[717327,"Rare genetic non-progressive predominantly macular disorder",4,10,[],[],8,0,0,"",0,0],[717330,"Rare genetic isolated non-progressive predominantly macular disorder",4,10,[],[],8,0,0,"",0,0],[717333,"Rare genetic progressive predominantly macular disorder",4,10,[],[],8,0,0,"",0,0],[717336,"Rare genetic isolated progressive predominantly macular disorder",4,10,[],[],8,0,0,"",0,0],[717339,"Rare genetic non-progressive retinal vasculopathy",4,10,[],[],8,0,0,"",0,0],[717342,"Rare genetic progressive retinal vasculopathy",4,10,[],[],8,0,0,"",0,0],[717345,"Rare genetic isolated progressive retinal vasculopathy",4,10,[],[],8,0,0,"",0,0],[717348,"Rare genetic disorder with progressive retinal vasculopathy as a major feature",4,10,[],[],8,0,0,"",0,0],[717564,"Dural sinus malformation without arteriovenous shunt",1,3,[2],[],8,0,0,"",0,0],[717582,"Coagulation abnormality associated with a vascular anomaly",3,23,[],[],8,0,0,"",0,0],[717585,"Kasabach-Merritt-like phenomenon",5,4,[2],[0,1],8,0,0,"",0,0],[717588,"Localized intravascular coagulation",5,4,[2],[],8,0,0,"",0,0],[717593,"Disseminated intravascular coagulation associated with a vascular anomaly",5,4,[2],[],8,0,0,"",0,0],[717598,"Lymphatic-venous malformation",1,3,[2],[],8,0,0,"",0,0],[717605,"Capillary-lymphatic malformation",6,3,[2],[],8,0,0,"",0,0],[717611,"Capillary-venous malformation",6,3,[2],[],8,2,0,"PIK3CA TEK",0,0],[717619,"Capillary-lymphatic-venous malformation",6,3,[2],[],8,0,0,"",0,0],[717638,"Aquagenic urticaria",0,5,[2],[],8,0,0,"",0,0],[717646,"Congenital midnasal stenosis",6,3,[2],[],8,0,0,"",0,0],[717757,"Rare immune disease with inflammatory bowel disease",4,12,[],[],8,0,0,"",0,0],[717784,"Partial trisomy 12q syndrome",1,3,[2],[],8,0,0,"",0,0],[717795,"Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome",0,1,[0],[],8,1,14996,"ELP2",1,0],[717812,"12q24.31 microdeletion syndrome",1,3,[1],[],8,2,0,"SETD1B KDM2B",0,0],[717823,"Global developmental delay-recurrent infections-facial dysmorphism syndrome",1,3,[1],[],8,1,0,"ANKRD17",0,0],[717830,"2p14p15 microdeletion syndrome",1,3,[1],[],8,2,0,"RAB1A ACTR2",0,0],[717841,"Global developmental delay-facial dysmorphism-atrial septal defect syndrome",1,3,[1],[],8,1,0,"KDM2B",0,0],[717846,"Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome",1,3,[7],[],8,1,0,"TFE3",0,0],[717851,"Rare non-syndromic inflammatory bowel disease",3,12,[],[],8,0,0,"",0,0],[717854,"Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome",1,3,[1],[],8,3,0,"H4C3 H4C5 H4C9",0,0],[717862,"Rare disorder with inflammatory bowel disease",4,12,[],[],8,0,0,"",0,0],[717865,"Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease",4,12,[],[],8,0,0,"",0,0],[717868,"Rare skin disease with inflammatory bowel disease",4,12,[],[],8,0,0,"",0,0],[717871,"Rare systemic or rheumatologic disease with inflammatory bowel disease",4,12,[],[],8,0,0,"",0,0],[717874,"Rare inborn error of metabolism with inflammatory bowel disease",4,12,[],[],8,0,0,"",0,0],[717877,"Rare miscellaneous disease with inflammatory bowel disease",4,12,[],[],8,0,0,"",0,0],[717884,"Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome",1,3,[1],[],8,1,0,"PAK1",0,0],[718017,"Combined immunodeficiency due to COPG1 deficiency",0,16,[0],[1,2],5,1,0,"COPG1",0,0],[718037,"Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency",0,3,[0],[],8,1,0,"PRIM1",0,0],[718047,"Combined immunodeficiency due to polymerase delta deficiency",0,16,[0],[],8,2,0,"POLD1 POLD2",0,0],[718053,"Combined immunodeficiency with low CD4 and normal CD8",3,16,[],[],8,0,0,"",0,0],[718072,"Combined immunodeficiency with low CD8 and normal CD4",3,16,[],[],8,0,0,"",0,0],[718079,"Combined immunodeficiency with normal B cells and normal immunoglubulins",3,16,[],[],8,0,0,"",0,0],[718255,"Y-linked non-syndromic genetic deafness",7,18,[9],[],8,1,0,"TBL1Y",0,0],[719766,"Photic retinopathy",0,10,[2],[3],6,0,0,"",0,0],[719880,"Congenital myasthenic syndrome due to acetylcholine receptor clustering defect",7,1,[0],[],8,3,0,"RAPSN CHRND AK9",0,0],[719914,"Congenital myasthenic syndrome due to defective nuclear membrane protein",7,1,[0],[],8,1,0,"TOR1AIP1",0,0],[719921,"Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction",7,1,[0],[],8,1,0,"DES",0,0],[719931,"Angiokeratoma circumscriptum",6,23,[2],[0],5,0,0,"",0,0],[719936,"Angiokeratoma of Mibelli",6,5,[2],[2],6,0,0,"",0,0],[719939,"Central conducting lymphatic anomaly",0,23,[2],[1,2,5,6],6,0,0,"",0,0],[719950,"Complex lymphatic anomaly",3,23,[],[],8,0,0,"",0,0],[719955,"Multifocal fast-flow vascular malformation",3,23,[],[],8,0,0,"",0,0],[720014,"Neonatal/infantile-onset brain arteriovenous fistula",1,23,[2],[0,1],6,0,0,"",0,0],[720017,"Late-onset brain arteriovenous fistula",6,23,[2],[0,1],6,0,0,"",0,0],[720023,"Neonatal/infantile-onset spinal arteriovenous fistula",1,23,[2],[0,1],6,0,0,"",0,0],[720027,"Late-onset spinal arteriovenous fistula",6,23,[2],[6],6,0,0,"",0,0],[720280,"T-B+NK+ severe combined immunodeficiency",3,16,[],[],8,0,0,"",0,0],[720287,"T-B+NK- severe combined immunodeficiency",3,16,[],[],8,0,0,"",0,0],[720294,"T-B-NK- severe combined immunodeficiency",3,16,[],[],8,0,0,"",0,0],[720301,"T-B-NK+ severe combined immunodeficiency",3,16,[],[],8,0,0,"",0,0],[720308,"T-B-NK+ severe combined immunodeficiency with microcephaly",3,16,[],[],8,0,0,"",0,0],[720314,"T-B-NK+ severe combined immunodeficiency without microcephaly",3,16,[],[],8,0,0,"",0,0],[720321,"Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome",1,3,[1],[0,1,2],5,1,0,"TLK2",0,0],[720326,"Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome",1,3,[0],[4],5,1,0,"CDK10",0,0],[720341,"Otofaciocervical syndrome without thymic hypoplasia",2,3,[1],[],8,1,0,"EYA1",0,0],[720357,"Otofaciocervical syndrome with thymic hypoplasia",2,3,[0],[],8,1,0,"PAX1",0,0],[720371,"T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency",0,16,[0],[0,1],5,1,0,"LCP2",0,0],[723094,"Galactose-1-phosphate uridylyltransferase deficiency",3,2,[],[],8,0,0,"",0,0],[723101,"Clinical variant galactosemia",0,2,[],[0],6,0,0,"",0,0],[723106,"Biochemical variant galactosemia",8,2,[],[],8,0,0,"",0,0],[723139,"Multifocal ectopic Purkinje-related premature contraction",0,7,[1],[1,2],5,1,0,"SCN5A",0,0],[723146,"Hyper-IgM syndrome due to INO80 deficiency",7,16,[0],[1],5,1,0,"INO80",0,0],[723156,"Fetal acetylcholine receptor antibody-related disorder",0,3,[2],[4],5,0,0,"",0,0],[723161,"Combined immunodeficiency due to NFATC1 deficiency",0,16,[0],[0,1],5,1,0,"NFATC1",0,0],[723195,"Iris melanoma",0,11,[2],[6],5,6,0,"BAP1 BAP1 GNA11 GNAQ CYSLTR2 SF3B1",0,0],[723203,"Choroidal and ciliary body melanoma",0,11,[2],[6,7],4,6,0,"SF3B1 BAP1 BAP1 GNA11 GNAQ CYSLTR2",0,0],[723218,"SITRAME Syndrome",9,14,[2],[6],6,0,0,"",0,0],[723223,"Extrapulmonary non-tuberculous mycobacterial infection",0,8,[2],[6],6,0,0,"",0,0],[723256,"Rare vascular malformation",4,23,[],[],8,0,0,"",0,0],[723261,"Syndromic venous malformation",4,23,[],[],8,0,0,"",0,0],[723264,"Syndromic port-wine capillary malformation",4,23,[],[],8,0,0,"",0,0],[723267,"Rare isolated port-wine capillary malformation",4,23,[],[],8,0,0,"",0,0],[723270,"Isolated glomeruloid hemangioma",6,11,[2],[6],5,0,0,"",0,0],[723286,"Cutaneous epithelioid angiomatous nodule",6,11,[2],[5,6,7],6,0,0,"",0,0],[723290,"Pregnancy-associated spontaneous coronary artery dissection",0,7,[2],[6],6,0,0,"",0,0],[723342,"Flow limitation in the iliac artery",0,23,[2],[6],6,0,0,"",0,0],[723358,"Diffuse midline glioma, H3 K27-altered",0,11,[2],[2],8,4,0,"H3C3 H3C14 H3C2 H3-3A",0,0],[723416,"Genetic arthrogryposis syndrome",4,3,[],[],8,0,0,"",0,0],[723427,"Syndromic fast-flow vascular malformation",4,23,[],[],8,0,0,"",0,0],[723432,"Central nervous system venous vascular malformation",3,23,[],[],8,0,0,"",0,0],[723518,"Isolated combined vascular malformation",4,3,[],[],8,0,0,"",0,0],[724143,"Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome",1,3,[0],[0,1],5,1,0,"WIPI2",0,0],[724148,"Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome",1,3,[0],[0,1],5,1,0,"WDR45B",0,0],[725898,"Bone marrow failure-diabetes mellitus syndrome",0,4,[0],[2],5,1,0,"DUT",0,0],[725964,"Appendiceal mucinous neoplasm",0,11,[2],[6,7],4,0,0,"",0,0],[725984,"Low-grade appendiceal mucinous neoplasm",2,11,[2],[],8,0,0,"",0,0],[725992,"High-grade appendiceal mucinous neoplasm",2,11,[2],[],8,0,0,"",0,0],[726004,"Astrocytoma grade 4",0,11,[2],[3],6,4,0,"ATRX IDH2 TP53 IDH1",0,0],[726036,"Red cell aplasia-microcephaly-seizure-developmental delay syndrome",0,4,[1],[4],5,1,0,"TP53",0,0],[726047,"Congenital amegakaryocytic thrombocytopenia-MPL",2,4,[0],[],8,1,0,"MPL",0,0],[726050,"Congenital amegakaryocytic thrombocytopenia-THPO",2,4,[1,0],[],8,1,0,"THPO",0,0],[726053,"Congenital amegakaryocytic thrombocytopenia without known causal genetic defect",7,4,[1,0],[],8,0,0,"",0,0],[726442,"Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections",0,16,[1],[1,2],6,1,0,"IRF4",0,0],[726452,"Combined immunodeficiency with early gray hairing",0,16,[1],[2,5],5,1,0,"IRF4",0,0],[726479,"Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency",0,16,[1],[6,7],5,1,0,"IRF4",0,0],[726644,"Houge-Janssens syndrome",1,3,[1],[0,1,2],5,0,0,"",0,0],[726659,"Houge-Janssens syndrome type 3",2,3,[1],[],8,1,0,"PPP2CA",0,0],[726667,"Houge-Janssens syndrome type 4",2,3,[1],[],8,1,0,"PPP2R5C",0,0],[726677,"Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome",1,3,[0],[1],5,1,0,"MED27",0,0],[726684,"Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome",1,3,[1],[],8,1,0,"KAT5",0,0],[726695,"Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome",1,3,[1],[0,1],5,1,0,"HECW2",0,0],[726700,"Chitayat syndrome",1,3,[1],[0,1,2],5,1,0,"ERF",0,0],[726703,"Polydactyly-macrocephaly syndrome",1,3,[1],[4,0,1],5,1,0,"MAX",0,0],[726782,"Intellectual disability-myopathy-white matter abnormality syndrome",0,3,[0],[0,1,2],5,1,0,"ABCC9",0,0],[726788,"Calcium release deficiency syndrome",0,7,[1],[2,5,6],5,1,0,"RYR2",0,0],[726793,"Venezuelan equine encephalitis",0,8,[2],[1,2,5,6],6,0,0,"",0,0],[726799,"TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome",1,3,[1],[1,2],5,1,0,"TSHZ3",0,0],[726807,"PTEN hamartoma of soft tissue",6,3,[2],[3],6,1,0,"PTEN",0,0],[726812,"Self limited focal childhood epilepsy",3,1,[],[],8,0,0,"",0,0],[726824,"Hepatorenocardiac degenerative fibrosis",0,17,[0],[3],5,1,0,"TULP3",0,0],[726832,"Radiation-induced Moyamoya syndrome",0,27,[2],[2,5],6,0,0,"",0,0],[726837,"Hematohidrosis",0,5,[2],[1,2,6],5,0,0,"",0,0],[726843,"Sweat glands anomaly",4,5,[],[],8,0,0,"",0,0],[727126,"Isolated congenital long QT syndrome without known causative genetic defect",7,7,[4],[],8,0,0,"",0,0],[727141,"KCNQ1-related isolated congenital long QT syndrome",7,7,[1],[],8,1,0,"KCNQ1",0,0],[727149,"KCNH2-related isolated congenital long QT syndrome",7,7,[1],[],8,1,0,"KCNH2",0,0],[727156,"CACNA1C-related isolated congenital Long QT syndrome",7,7,[1],[],8,1,0,"CACNA1C",0,0],[727163,"TRDN-related isolated congenital long QT syndrome",7,7,[1],[],8,1,0,"TRDN",0,0],[727178,"KCNE2-related isolated congenital long QT syndrome",7,7,[1],[],8,1,0,"KCNE2",0,0],[727185,"KCNE1-related isolated congenital long QT syndrome",7,7,[1],[],8,1,0,"KCNE1",0,0],[727192,"Calmodulin-related isolated congenital long QT syndrome",7,7,[1],[],8,3,0,"CALM1 CALM2 CALM3",0,0],[727203,"SCN5A-related isolated congenital long QT syndrome",7,7,[1],[],8,1,0,"SCN5A",0,0],[727296,"Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome",0,1,[0],[2,5],5,1,0,"CIAO1",0,0],[727394,"Autosomal recessive KLF1-related severe anemia",0,4,[0],[4,0,1],5,1,0,"KLF1",0,0],[727620,"16p13.11p11.2 triplication/16p11.2 duplication syndrome",1,3,[2],[1,2],5,0,0,"",0,0],[727651,"Loin pain-hematuria syndrome",0,13,[2],[2,5,6],2,0,0,"",0,0],[727719,"Monoamine oxidase A and monoamine oxidase B deficiency",0,2,[5],[1,2],5,2,0,"MAOA MAOB",0,0],[727803,"Isolated global cerebellar hypoplasia",6,3,[4],[0,1],6,0,0,"",0,0],[727820,"Brainstem disconnection syndrome",0,3,[4],[4,0],5,0,0,"",0,0],[727861,"YARS1-related multisystemic disease",0,2,[0],[4,0,1],5,1,0,"YARS1",0,0],[727881,"Medullary tegmental cap dysplasia",6,3,[4],[4,0],5,0,0,"",0,0],[727915,"APOB-related familial hypobetalipoproteinemia",0,2,[0],[2,5],5,1,0,"APOB",0,0],[727925,"Familial combined hypolipidemia",8,2,[0],[2,6],5,1,0,"ANGPTL3",0,0],[727932,"Hypocholesterolemia due to PCSK9 deficiency",8,2,[1],[1,2],8,1,0,"PCSK9",0,0],[728432,"PLA2G6-related neurodegeneration, juvenile-onset",0,1,[0],[2,5],6,0,0,"",0,0],[728467,"Congenital macrothrombocytopenia with focal myelofibrosis",0,4,[0],[0,1],6,1,0,"MPIG6B",0,0],[728475,"Inherited bone marrow failure disorder with immune defect",4,16,[],[],8,0,0,"",0,0],[728514,"Pontocerebellar hypoplasia type 16",2,3,[0],[],8,1,0,"MINPP1",0,0],[728521,"Pontocerebellar hypoplasia type 17",2,3,[0],[],8,1,0,"PRDM13",0,0],[728528,"Pontocerebellar hypoplasia and related disorders",4,3,[],[],8,0,0,"",0,0],[728584,"PIK3CA-related overgrowth spectrum disorder with vascular malformation",3,3,[],[],8,0,0,"",0,0],[728619,"Early repolarization syndrome",0,7,[4],[2,5,6,7],4,2,0,"KCNJ8 ABCC9",0,0],[728633,"Idiopathic orbital inflammation syndrome",0,10,[2],[2,6,7],6,0,0,"",0,0],[728642,"Genetic syndrome or malformation associated with head and neck malformations",4,3,[],[],8,0,0,"",0,0],[728656,"Bleeding diathesis due to thromboxane A2 receptor variants",0,4,[1,0],[],8,1,800446,"TBXA2R",0,0],[728662,"Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome",1,3,[1,0],[0,1],5,1,0,"ATOH1",0,0],[728725,"Fetus in fetu",0,3,[2],[0,1,2,5],4,0,0,"",0,0],[728764,"NIT1-related cerebral small vessel disease",0,1,[0],[6],5,1,0,"NIT1",0,0],[728866,"Immune effector cell-associated neurotoxicity syndrome",5,1,[2],[6],5,0,0,"",0,0],[728877,"Esophageal atresia type A",2,3,[2],[],8,0,0,"",0,0],[728882,"Esophageal atresia type B",2,3,[2],[],8,0,0,"",0,0],[728885,"Esophageal atresia type C",2,3,[2],[],8,0,0,"",0,0],[728888,"Esophageal atresia type D",2,3,[2],[],8,0,0,"",0,0],[728891,"Esophageal atresia type E",2,3,[2],[],8,0,0,"",0,0],[728894,"Progestogen Hypersensitivity",0,28,[2],[6],6,0,0,"",0,0],[728902,"Craniotubular dysplasia, Ikegawa type",1,0,[0],[1,2],5,1,0,"TMEM53",0,0],[729224,"Epilepsy-mild cortical malformation-oligodendroglial hyperplasia",0,3,[2],[2,6],6,1,0,"SLC35A2",0,0],[729519,"Syndrome with a brainstem malformation as a major feature",4,3,[],[],8,0,0,"",0,0],[729527,"Isolated cerebellar malformation",4,3,[],[],8,0,0,"",0,0],[729538,"Syndromic rhombencephalosynapsis",4,3,[],[],8,0,0,"",0,0],[729554,"Midbrain-Hindbrain malformation",4,3,[],[],8,0,0,"",0,0],[729557,"Posterior fossa cystic malformation",4,3,[],[],8,0,0,"",0,0],[729560,"Forebrain malformation",4,3,[],[],8,0,0,"",0,0],[729563,"Isolated posterior fossa cystic malformation",4,3,[],[],8,0,0,"",0,0],[729566,"Syndrome with a posterior fossa cystic malformation as a major feature",4,3,[],[],8,0,0,"",0,0],[729649,"Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder",0,3,[0],[0,1,2],5,1,0,"NOTCH3",0,0],[729761,"Sandestig-Stefanova syndrome",1,3,[0],[4,0,1],5,1,0,"NUP188",0,0],[729781,"Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome",1,3,[0],[4,0,1],5,1,0,"ZPR1",0,0],[730226,"Infant-type hemispheric glioma, fusion-negative",7,11,[2],[],8,0,0,"",0,0],[730230,"Autoimmune nodopathy",4,1,[],[],8,0,0,"",0,0],[730233,"Anti-NF155 nodopathy",0,1,[2],[],8,0,0,"",0,0],[730238,"Anti-pan-neurofascin nodopathy",0,1,[2],[],8,0,0,"",0,0],[730243,"Anti-CNTN1 nodopathy",0,1,[2],[],8,0,0,"",0,0],[730248,"Anti-CASPR1 nodopathy",0,1,[2],[],8,0,0,"",0,0],[730256,"Low-grade fibromyxoid sarcoma",0,11,[2],[],8,0,0,"",0,0],[730261,"X-linked intellectual disability, Basilicata-Akhtar type",1,1,[7],[],8,1,0,"MSL3",0,0],[730276,"Primary autoimmune ear disease",0,18,[2],[],8,0,0,"",0,0],[730281,"Sclerosing epithelioid fibrosarcoma",0,11,[2],[],8,0,0,"",0,0],[730286,"Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome",1,3,[1],[],8,1,0,"MYCN",0,0],[730289,"Paraduodenal pancreatitis",0,12,[2],[],8,0,0,"",0,0],[730300,"Squalene synthase deficiency",0,2,[0],[],8,1,0,"FDFT1",0,0],[730318,"ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome",0,16,[0],[],8,1,0,"ITPR3",0,0],[730322,"Isolated anophthalmia",6,10,[1,0,5],[],8,0,0,"",0,0],[730327,"Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome",1,3,[1,0],[],8,1,0,"NARS1",0,0],[730332,"Charcot-Marie-Tooth disease type 1J",0,1,[1],[],8,1,0,"ITPR3",0,0],[730355,"Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome",1,3,[1],[],8,1,0,"RYBP",0,0],[730363,"Ethanol-producing endogenous fermentation syndrome",9,27,[2],[],8,0,0,"",0,0],[730373,"Tuberculid",3,5,[],[],8,0,0,"",0,0],[730376,"Rare acquired isolated progressive generalized retinal disorder",4,10,[],[],8,0,0,"",0,0],[730379,"Papulonecrotic tuberculid",0,5,[2],[],8,0,0,"",0,0],[730382,"Genetic midbrain-hindbrain malformation",4,3,[],[],8,0,0,"",0,0],[730385,"Lichen scrofulosorum",0,5,[2],[],8,0,0,"",0,0],[730390,"Genetic posterior fossa cystic malformation",4,3,[],[],8,0,0,"",0,0],[730393,"Genetic isolated posterior fossa cystic malformation",4,-1,[],[],8,0,0,"",0,0],[730396,"Invasive meningococcal disease",0,8,[2],[],8,0,0,"",0,0],[730401,"Erythema induratum of Bazin",0,5,[2],[],8,0,0,"",0,0],[730406,"Genetic syndrome with a posterior fossa cystic malformation as a major feature",4,3,[],[],8,0,0,"",0,0],[730415,"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of not yet identified genetic/genomic cause",7,3,[],[],8,0,0,"",0,0],[730418,"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of genetic/genomic origin",7,3,[],[],8,0,0,"",0,0],[730421,"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder",0,3,[],[],8,0,0,"",0,0],[730618,"RYR2-related catecholaminergic polymorphic ventricular tachycardia",7,7,[1],[],8,1,0,"RYR2",0,0],[730631,"CASQ2-related catecholaminergic polymorphic ventricular tachycardia",7,7,[0],[],8,1,0,"CASQ2",0,0],[730644,"TECRL-related catecholaminergic polymorphic ventricular tachycardia",7,7,[0],[],8,1,0,"TECRL",0,0],[730657,"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia",7,7,[1],[],8,3,0,"CALM1 CALM2 CALM3",0,0],[730672,"Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder",0,1,[],[],8,0,0,"",0,0],[730675,"Isolated complex neurodevelopmental disorder without ID/ASD of genetic/genomic origin",7,1,[],[],8,0,0,"",0,0],[730679,"Isolated complex neurodevelopmental disorder without ID/ASD of not yet identified genetic/genomic cause",7,1,[],[],8,0,0,"",0,0],[730682,"TRDN-related catecholaminergic polymorphic ventricular tachycardia",7,7,[0],[],8,1,0,"TRDN",0,0],[730693,"Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder",4,1,[],[],8,0,0,"",0,0],[730696,"Genetic syndrome with a brainstem malformation as a major feature",4,3,[],[],8,0,0,"",0,0],[730699,"Genetic syndromic rhombencephalosynapsis",4,3,[],[],8,0,0,"",0,0],[730702,"Primary extra-pulmonary tuberculosis",2,8,[2],[],8,0,0,"",0,0],[730707,"Genetic forebrain malformation",4,3,[],[],8,0,0,"",0,0],[730721,"Isolated partial colobomatous microphthalmia",2,3,[1,0],[],8,1,0,"SHH",0,0],[730728,"Catecholaminergic polymorphic ventricular tachycardia without known causative genetic defect",7,7,[4],[],8,0,0,"",0,0],[730740,"Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form",2,2,[0],[],8,1,0,"TK2",0,0],[730743,"Childhood-onset TK2-related mitochondrial DNA maintenance defect, myopathic form",2,2,[0],[],8,1,0,"TK2",0,0],[730746,"Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form",2,2,[0],[],8,1,0,"TK2",0,0],[730866,"Wisconsin syndrome",0,3,[1],[],8,0,0,"",0,0],[730882,"Primary amoebic meningoencephalitis",2,8,[2],[],8,0,0,"",0,0],[730887,"Granulomatous amoebic encephalitis",2,8,[2],[],8,0,0,"",0,0],[730892,"Ossifying fibromyxoid tumor",0,11,[2],[],8,1,0,"PHF1",0,0]]}