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{"sheet":"Sheet1","index":0,"n_rows":7649,"n_cols":4,"rows_kept":7649,"cut":false,"hidden":false,"merged":[]}
["Panel","Gene_list","Panel_condition::Condition","Panel_condition::Gene"]
["17-beta-hydroxysteroid dehydrogenase X deficiency","HSD17B10","17-beta-hydroxysteroid dehydrogenase X deficiency","HSD17B10"]
["2-methylbutyrylglycinuria","ACADSB","2-methylbutyrylglycinuria","ACADSB"]
["3-Hydroxy 3-methylglutaric aciduria","HMGCL","3-Hydroxy 3-methylglutaric aciduria","HMGCL"]
["3-hydroxyacyl-CoA dehydrogenase deficiency","HADH","3-hydroxyacyl-CoA dehydrogenase deficiency","HADH"]
["3-hydroxyisobutryl-CoA hydrolase deficiency","HIBCH","3-hydroxyisobutryl-CoA hydrolase deficiency","HIBCH"]
["3-Methylcrotonyl-CoA carboxylase deficiency","MCCC1,MCCC2","3-Methylcrotonyl-CoA carboxylase deficiency 1","MCCC1"]
[null,null,"3-Methylcrotonyl-CoA carboxylase deficiency 2","MCCC2"]
["3-Methylglutaconic aciduria","AUH,CLPB,DNAJC19,HTRA2,OPA3,SERAC1,TAZ","3-Methylglutaconic aciduria type I","AUH"]
[null,null,"3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia","CLPB"]
[null,null,"3-Methylglutaconic aciduria (other types) V","DNAJC19"]
[null,null,"3-methylglutaconic aciduria, type VIII","HTRA2"]
[null,null,"3-Methylglutaconic aciduria (other types) III","OPA3"]
[null,null,"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome","SERAC1"]
[null,null,"3-Methylglutaconic aciduria (other types) II","TAZ"]
["3M syndrome","CCDC8,CUL7,OBSL1","3M syndrome 3","CCDC8"]
[null,null,"3M syndrome 1","CUL7"]
[null,null,"3M syndrome 2","OBSL1"]
["3MC syndrome","COLEC11,MASP1","3MC syndrome 2","COLEC11"]
[null,null,"3MC syndrome 1","MASP1"]
["46XX sex reversal","NR5A1,RSPO1,SRY","46,XX sex reversal 4","NR5A1"]
[null,null,"Palmoplantar hyperkeratosis and true hermaphroditism","RSPO1"]
[null,null,"46XX sex reversal 1","SRY"]
["46XY sex reversal","AKR1C2,CBX2,CYP11A1,DHH,DMRT1,MAP3K1,NR0B1,NR5A1,ZFPM2","46XY sex reversal 8","AKR1C2"]
[null,null,"46XY sex reversal 5","CBX2"]
[null,null,"Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete","CYP11A1"]
[null,null,"46XY sex reversal 7","DHH"]
[null,null,"46XY ovotesticular DSD","DMRT1"]
[null,null,"46XY sex reversal 6","MAP3K1"]
[null,null,"46XY sex reversal 2, dosage-sensitive","NR0B1"]
[null,null,"46XY sex reversal 3","NR5A1"]
[null,null,"46XY sex reversal 9","ZFPM2"]
["Aarskog-Scott syndrome","FGD1","Aarskog-Scott syndrome","FGD1"]
["Abetalipoproteinemia","MTTP","Abetalipoproteinemia","MTTP"]
["Abruzzo-Erickson syndrome","TBX22","Abruzzo-Erickson syndrome","TBX22"]
["ACAT2 deficiency","ACAT2","ACAT2 deficiency","ACAT2"]
["Acatalasemia","CAT","Acatalasemia","CAT"]
["Acetyl-CoA carboxylase deficiency","ACACA,ACACB","Acetyl-CoA carboxylase deficiency 1","ACACA"]
[null,null,"Acetyl-CoA carboxylase deficiency 2","ACACB"]
["Achondrogenesis","COL2A1,SLC26A2,TRIP11","Achondrogenesis, type II or hypochondrogenesis","COL2A1"]
[null,null,"Achondrogenesis IB","SLC26A2"]
[null,null,"Achondrogenesis, type IA","TRIP11"]
["Achondroplasia","FGFR3","Achondroplasia","FGFR3"]
["Achromatopsia","ATF6,CNGA3,CNGB3,GNAT2","Achromatopsia 7","ATF6"]
[null,null,"Achromatopsia 2","CNGA3"]
[null,null,"Achromatopsia 3","CNGB3"]
[null,null,"Achromatopsia 4","GNAT2"]
["Acid-labile subunit, deficiency of","IGFALS","Acid-labile subunit, deficiency of","IGFALS"]
["Acne inversa","NCSTN,PSEN1,PSENEN","Acne inversa, familial, 1","NCSTN"]
[null,null,"Acne inversa, familial, 3","PSEN1"]
[null,null,"Acne inversa, familial, 2","PSENEN"]
["Acrocapitofemoral dysplasia","IHH","Acrocapitofemoral dysplasia","IHH"]
["Acrodermatitis enteropathica","SLC39A4","Acrodermatitis enteropathica","SLC39A4"]
["Acrodysostosis","PDE4D,PRKAR1A","Acrodysostosis 2, with or without hormone resistance","PDE4D"]
[null,null,"Acrodysostosis 1, with or without hormone resistance","PRKAR1A"]
["Acrofacial dysostosis","DHODH,EVC,EVC2,POLR1A,SF3B4","Miller syndrome","DHODH"]
[null,null,"Weyers acrofacial dysostosis 1","EVC"]
[null,null,"Weyers acrofacial dysostosis 2","EVC2"]
[null,null,"Acrofacial Dysostosis, Cincinnati Type","POLR1A"]
[null,null,"Acrofacial dysostosis 1, Nager type","SF3B4"]
["Acromelic frontonasal dysostosis","ZSWIM6","Acromelic frontonasal dysostosis","ZSWIM6"]
["Acromesomelic dysplasia","BMPR1B,GDF5,NPR2","Acromesomelic dysplasia, Demirhan type","BMPR1B"]
[null,null,"Acromesomelic dysplasia, Hunter-Thompson type","GDF5"]
[null,null,"Acromesomelic dysplasia, Maroteaux type","NPR2"]
["ACTH-independent macronodular adrenal hyperplasia","ARMC5,GNAS","ACTH-independent macronodular adrenal hyperplasia 2","ARMC5"]
[null,null,"ACTH-independent macronodular adrenal hyperplasia","GNAS"]
["Acyl-CoA dehydrogenase, short-chain, deficiency of","ACADS","Acyl-CoA dehydrogenase, short-chain, deficiency of","ACADS"]
["Adams-Oliver","ARHGAP31,DLL4,DOCK6,EOGT,NOTCH1,RBPJ","Adams-Oliver syndrome 1","ARHGAP31"]
[null,null,"Adams-Oliver syndrome 6","DLL4"]
[null,null,"Adams-Oliver syndrome 2","DOCK6"]
[null,null,"Adams-Oliver syndrome 4","EOGT"]
[null,null,"Adams-Oliver syndrome 5","NOTCH1"]
[null,null,"Adams-Oliver syndrome 3","RBPJ"]
["Adenylosuccinase deficiency","ADSL","Adenylosuccinase deficiency","ADSL"]
["Adrenal disease","ARMC5,CYP11A1,CYP11B1,CYP17A1,GNAS,PDE11A,PDE8B,PRKACA,PRKAR1A","ACTH-independent macronodular adrenal hyperplasia 2","ARMC5"]
[null,null,"Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete","CYP11A1"]
[null,null,"Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency","CYP11B1"]
[null,null,"17-alpha-hydroxylase/17,20-lyase deficiency","CYP17A1"]
[null,null,"ACTH-independent macronodular adrenal hyperplasia","GNAS"]
[null,null,"Pigmented nodular adrenocortical disease, primary, 2","PDE11A"]
[null,null,"Pigmented nodular adrenocortical disease, primary, 3","PDE8B"]
[null,null,"Pigmented nodular adrenocortical disease, primary, 4","PRKACA"]
[null,null,"Pigmented nodular adrenocortical disease, primary, 1","PRKAR1A"]
["Adrenal hyperplasia, congenital","CYP11B1,CYP17A1,STAR","Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency","CYP11B1"]
[null,null,"17-alpha-hydroxylase/17,20-lyase deficiency","CYP17A1"]
[null,null,"Lipoid adrenal hyperplasia","STAR"]
["Adrenocorticotropic hormone deficiency","TBX19","Adrenocorticotropic hormone deficiency","TBX19"]
["Adrenoleukodystrophy","ABCD1","Adrenoleukodystrophy","ABCD1"]
["Adult onset leukodystrophy","LMNB1","Adult onset leukodystrophy","LMNB1"]
["ADULT syndrome","TP63","ADULT syndrome","TP63"]
["Advanced sleep phase syndrome","CSNK1D,PER2,PER3","Advanced sleep phase syndrome, familial, 2","CSNK1D"]
[null,null,"Advanced sleep phase syndrome, familial, 1","PER2"]
[null,null,"Advanced sleep phase syndrome, familial, 3","PER3"]
["Afibrinogenemia/dysfibrinogenemia","FGA,FGB,FGG","Dysfibrinogenemia, congenital 1","FGA"]
[null,null,"Dysfibrinogenemia, congenital 2","FGB"]
[null,null,"Dysfibrinogenemia, congenital 3","FGG"]
["Agammaglobulinemia","BLNK,BTK,CD79A,CD79B,IGHM,IGLL1,LRRC8A,PIK3R1,TCF3","Agammaglobulinemia 4","BLNK"]
[null,null,"Agammaglobulinemia, X-linked 1","BTK"]
[null,null,"Agammaglobulinemia 3, autosomal recessive","CD79A"]
[null,null,"Agammaglobulinemia 6","CD79B"]
[null,null,"Agammaglobulinemia 1","IGHM"]
[null,null,"Agammaglobulinemia 2","IGLL1"]
[null,null,"Agammaglobulinemia 5","LRRC8A"]
[null,null,"Agammaglobulinemia 7, autosomal recessive","PIK3R1"]
[null,null,"Agammaglobulinemia 8","TCF3"]
["Agammaglobulinemia and isolated hormone deficiency","BTK","Agammaglobulinemia and isolated hormone deficiency","BTK"]
["Age-related macular degeneration","ABCA4,ARMS2,C2,C3,C9,CFB,CFH,CFI,CST3,CX3CR1,ERCC6,FBLN5,HMCN1,HTRA1,RAX2,TLR3,TLR4","Macular degeneration, age-related, 2","ABCA4"]
[null,null,"Macular degeneration, age-related, 8","ARMS2"]
[null,null,"Macular degeneration, age-related, 14a","C2"]
[null,null,"Macular degeneration, age-related, 9","C3"]
[null,null,"Macular degeneration, age-related, 15","C9"]
[null,null,"Macular degeneration, age-related, 14b","CFB"]
[null,null,"Macular degeneration, age-related, 4","CFH"]
[null,null,"Macular degeneration, age-related, 13","CFI"]
[null,null,"Macular degeneration, age-related, 11","CST3"]
[null,null,"Macular degeneration, age-related, 12","CX3CR1"]
[null,null,"Macular degeneration, age-related, 5","ERCC6"]
[null,null,"Macular degeneration, age-related, 3","FBLN5"]
[null,null,"Macular degeneration, age-related, 1","HMCN1"]
[null,null,"Macular degeneration, age-related, 7","HTRA1"]
[null,null,"Macular degeneration, age-related, 6","RAX2"]
[null,null,"Age related macular degeneration","TLR3"]
[null,null,"Macular degeneration, age-related, 10","TLR4"]
["Agenesis of the corpus callosum","ATRX,IGBP1,KIF7,L1CAM,SLC12A6,TEAD1,ZBTB18","Alpha-thalassemia/mental retardation syndrome","ATRX"]
[null,null,"Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia","IGBP1"]
[null,null,"Acrocallosal syndrome","KIF7"]
[null,null,"Corpus callosum, partial agenesis of","L1CAM"]
[null,null,"Agenesis of the corpus callosum with peripheral neuropathy","SLC12A6"]
[null,null,"Non-X-Linked Aicardi syndrome","TEAD1"]
[null,null,"Mental retardation, autosomal dominant 22","ZBTB18"]
["Agnathia-otocephaly complex ","OTX2,PRRX1","Agnathia-otocephaly complex 2","OTX2"]
[null,null,"Agnathia-otocephaly complex 1","PRRX1"]
["AICA-ribosiduria due to ATIC deficiency","ATIC","AICA-ribosiduria due to ATIC deficiency","ATIC"]
["Aicardi-goutieres syndrome","ADAR,IFIH1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,TREX1","Aicardi-goutieres syndrome 6","ADAR"]
[null,null,"Aicardi-Goutieres syndrome 7","IFIH1"]
[null,null,"Aicardi-Goutieres syndrome 4","RNASEH2A"]
[null,null,"Aicardi-Goutieres syndrome 2","RNASEH2B"]
[null,null,"Aicardi-Goutieres syndrome 3","RNASEH2C"]
[null,null,"Aicardi-Goutieres syndrome 5","SAMHD1"]
[null,null,"Aicardi-Goutieres syndrome 1","TREX1"]
["Al-Raqad syndrome","DCPS","Al-Raqad syndrome","DCPS"]
["Alacrima, achalasia, and mental retardation syndrome","GMPPA","Alacrima, achalasia, and mental retardation syndrome","GMPPA"]
["Alagille syndrome","JAG1,NOTCH2","Alagille syndrome 1","JAG1"]
[null,null,"Alagille syndrome 2","NOTCH2"]
["Alazami syndrome","LARP7","Alazami syndrome","LARP7"]
["Albinism","AP3B1,AP3D1,BLOC1S3,BLOC1S6,C10orf11,DTNBP1,FRMD7,GPR143,HPS1,HPS3,HPS4,HPS5,HPS6,LYST,MLPH,MYO5A,OCA2,PAX6,RAB27A,SLC24A5,SLC38A8,SLC45A2,TYR,TYRP1","Hermansky-Pudlak syndrome 2","AP3B1"]
[null,null,"Hermansky-Pudlak syndrome 10","AP3D1"]
[null,null,"Hermansky-Pudlak syndrome 8","BLOC1S3"]
[null,null,"Hermansky-pudlak syndrome 9","BLOC1S6"]
[null,null,"Albinism, oculocutaneous, type VII","C10orf11"]
[null,null,"Hermansky-Pudlak syndrome 7","DTNBP1"]
[null,null,"Nystagmus 1, congenital, X-linked","FRMD7"]
[null,null,"Ocular albinism, type I","GPR143"]
[null,null,"Hermansky-Pudlak syndrome 1","HPS1"]
[null,null,"Hermansky-Pudlak syndrome 3","HPS3"]
[null,null,"Hermansky-Pudlak syndrome 4","HPS4"]
[null,null,"Hermansky-Pudlak syndrome 5","HPS5"]
[null,null,"Hermansky-Pudlak syndrome 6","HPS6"]
[null,null,"Chediak-Higashi syndrome","LYST"]
[null,null,"Griscelli syndrome, type 3","MLPH"]
[null,null,"Griscelli syndrome, type 1","MYO5A"]
[null,null,"Albinism, oculocutaneous, type II","OCA2"]
[null,null,"Foveal hypoplasia 1","PAX6"]
[null,null,"Griscelli syndrome, type 2","RAB27A"]
[null,null,"Albinism, oculocutaneous, type VI","SLC24A5"]
[null,null,"Foveal hypoplasia 2","SLC38A8"]
[null,null,"Albinism, oculocutaneous, type IV","SLC45A2"]
[null,null,"Albinism, oculocutaneous, type I","TYR"]
[null,null,"Albinism, oculocutaneous, type III","TYRP1"]
["Alexander disease","GFAP","Alexander disease","GFAP"]
["Alkaptonuria","HGD","Alkaptonuria","HGD"]
["Alopecia, neurologic defects, and endocrinopathy syndrome","RBM28","Alopecia, neurologic defects, and endocrinopathy syndrome","RBM28"]
["Alpha Mannosidosis","MAN2B1","Alpha Mannosidosis","MAN2B1"]
["Alpha-1 antitrypsin deficiency","SERPINA1","Alpha-1 antitrypsin deficiency","SERPINA1"]
["Alpha-2-Plasmin inhibitor deficiency","SERPINF2","Alpha-2-Plasmin inhibitor deficiency","SERPINF2"]
["Alpha-ketoglutarate dehydrogenase deficiency","OGDH","Alpha-ketoglutarate dehydrogenase deficiency","OGDH"]
["Alpha-methylacetoacetic aciduria","ACAT1","Alpha-methylacetoacetic aciduria","ACAT1"]
["Alpha-thalassemia/mental retardation syndrome","ATRX","Alpha-thalassemia/mental retardation syndrome","ATRX"]
["Alport syndrome","COL4A3,COL4A4,COL4A5","Alport syndrome, autosomal 1","COL4A3"]
[null,null,"Alport, autosomal 2","COL4A4"]
[null,null,"Alport syndrome, X-linked","COL4A5"]
["Alveolar capillary dysplasia with misalignment of pulmonary veins","FOXF1","Alveolar capillary dysplasia with misalignment of pulmonary veins","FOXF1"]
["Alzheimer disease","APOE,APP,PSEN1,PSEN2","Alzheimer disease-2","APOE"]
[null,null,"Alzheimer disease 1, familial","APP"]
[null,null,"Alzheimer disease, type 3","PSEN1"]
[null,null,"Alzheimer disease-4","PSEN2"]
["Amelogenesis imperfecta","ACPT,AMBN,AMELX,C4orf26,DLX3,ENAM,FAM20A,FAM83H,GPR68,ITGB6,KLK4,LAMB3,MMP20,SLC24A4,WDR72","Hypoplastic Amelogenesis Imperfecta","ACPT"]
[null,null,"Amelogenesis imperfecta, type IF","AMBN"]
[null,null,"Amelogenesis Imperfecta, type IE","AMELX"]
[null,null,"Amelogenesis imperfecta, type IIA4","C4orf26"]
[null,null,"Trichodontoosseous syndrome","DLX3"]
[null,null,"Amelogenesis imperfecta, type IB","ENAM"]
[null,null,"Amelogenesis imperfecta type IG and gingival fibromatosis syndrome","FAM20A"]
[null,null,"Amelogenesis imperfecta, type III","FAM83H"]
[null,null,"Amelogenesis imperfecta, hypomaturation type, IIA6","GPR68"]
[null,null,"Amelogenesis imperfecta, type IH","ITGB6"]
[null,null,"Amelogenesis imperfecta, type IIA1","KLK4"]
[null,null,"Amelogenesis imperfecta, type IA","LAMB3"]
[null,null,"Amelogenesis imperfecta, type IIA2","MMP20"]
[null,null,"Amelogenesis imperfecta, type IIA5","SLC24A4"]
[null,null,"Amelogenesis imperfecta, hypomaturation type, IIA3","WDR72"]
["Aminoacylase 1 deficiency","ACY1","Aminoacylase 1 deficiency","ACY1"]
["Amyloid Angiopathy","APP,CST3,GSN,ITM2B","Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants","APP"]
[null,null,"Cerebral amyloid angiopathy","CST3"]
[null,null,"Amyloidosis, Finnish type","GSN"]
[null,null,"Dementia, familial British","ITM2B"]
["Amyloid disease","APOA1,B2M,FGA,LYZ","Familial visceral amyloidosis","APOA1"]
[null,null,"Amyloidosis, familial visceral","B2M"]
[null,null,"Amyloidosis, 3 or more types","FGA"]
[null,null,"Amyloidosis, renal","LYZ"]
["Amyotrophic lateral sclerosis","ALS2,ANG,ANXA11,ARHGEF28,BSCL2,CHMP2B,DDHD2,ERBB4,FIG4,FUS,GARS,HNRNPA1,MATR3,NEFH,NEK1,OPTN,PFN1,SETX,SIGMAR1,SOD1,SPAST,SPG11,SPG20,SQSTM1,TARDBP,TECPR2,TIA1,TUBA4A,UBQLN2,VAPB,VCP","Amyotrophic lateral sclerosis 2, juvenile","ALS2"]
[null,null,"Amyotrophic lateral sclerosis 9","ANG"]
[null,null,"Amytrophic lateral sclerosis 23","ANXA11"]
[null,null,"Amyotrophic lateral sclerosis","ARHGEF28"]
[null,null,"Neuropathy, distal hereditary motor, type VA2","BSCL2"]
[null,null,"Amyotrophic lateral sclerosis 17","CHMP2B"]
[null,null,"Spastic paraplegia 54, autosomal recessive","DDHD2"]
[null,null,"Amyotrophic lateral sclerosis 19","ERBB4"]
[null,null,"Amyotrophic lateral sclerosis 11","FIG4"]
[null,null,"Amyotrophic lateral sclerosis 6","FUS"]
[null,null,"Neuropathy, distal hereditary motor, type VA","GARS"]
[null,null,"Amyotrophic lateral sclerosis 20","HNRNPA1"]
[null,null,"Amyotrophic lateral sclerosis 21","MATR3"]
[null,null,"ALS candidate genes","NEFH"]
[null,null,"Amyotrophic lateral sclerosis susceptibility_NEK1","NEK1"]
[null,null,"Amyotrophic lateral sclerosis 12","OPTN"]
[null,null,"Amyotrophic lateral sclerosis 18","PFN1"]
[null,null,"Amyotrophic lateral sclerosis 4","SETX"]
[null,null,"Amyotrophic lateral sclerosis 16","SIGMAR1"]
[null,null,"Amyotrophic lateral sclerosis 1","SOD1"]
[null,null,"Spastic paraplegia 4","SPAST"]
[null,null,"Amyotrophic lateral sclerosis 5, juvenile","SPG11"]
[null,null,"Troyer syndrome","SPG20"]
[null,null,"Frontotemporal dementia and/or amyotrophic lateral sclerosis 3","SQSTM1"]
[null,null,"Amyotrophic lateral sclerosis 10,","TARDBP"]
[null,null," Spastic paraplegia 49","TECPR2"]
[null,null,"Amyotrophic lateral sclerosis_TIA1","TIA1"]
[null,null,"Amyotrophic lateral sclerosis 22","TUBA4A"]
[null,null,"Amyotrophic lateral sclerosis 15","UBQLN2"]
[null,null,"Amyotrophic lateral sclerosis 8","VAPB"]
[null,null,"Amyotrophic lateral sclerosis 14","VCP"]
["Anauxetic dysplasia","POP1,RMRP","Anauxetic dysplasia 2","POP1"]
[null,null,"Anauxetic dysplasia 1","RMRP"]
["Andersen syndrome","KCNJ2","Andersen syndrome","KCNJ2"]
["Anemia","ABCB7,AK1,ALAS2,AMN,BPGM,C15orf41,CD59,CDAN1,CUBN,DHFR,G6PD,GATA1,GCLC,GIF,GLRX5,GPI,GPX1,GSS,HK1,HSPA9,KLF1,LPIN2,MTR,MTRR,NT5C3A,PKLR,PUS1,RHAG,SEC23B,SLC11A2,SLC19A2,SLC25A38,STEAP3,TMPRSS6,TRNT1,YARS2","Anemia, sideroblastic, with ataxia","ABCB7"]
[null,null,"Hemolytic anemia due to adenylate kinase deficiency","AK1"]
[null,null,"Hereditary sideroblastic anemia","ALAS2"]
[null,null,"Megaloblastic anemia-1, Norwegian type","AMN"]
[null,null,"Deficiency of bisphosphoglycerate mutase","BPGM"]
[null,null,"Dyserythropoietic anemia, congenital, type Ib","C15orf41"]
[null,null,"Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy","CD59"]
[null,null,"Anemia, congenital dyserythropoietic, type Ia","CDAN1"]
[null,null,"Megaloblastic anemia-1, Finnish type","CUBN"]
[null,null,"Megaloblastic anemia due to dihydrofolate reductase deficiency","DHFR"]
[null,null,"Hemolytic anemia due to G6PD deficiency","G6PD"]
[null,null,"Thrombocytopenia, X-linked, with or without dyserythropoietic anemia","GATA1"]
[null,null,"Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency","GCLC"]
[null,null,"Intrinsic factor deficiency","GIF"]
[null,null,"Anemia, sideroblastic 3, pyridoxine-refractory, autosomal recessive","GLRX5"]
[null,null,"Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency","GPI"]
[null,null,"Hemolytic anemia due to glutathione peroxidase deficiency","GPX1"]
[null,null,"Hemolytic anemia due to glutathione synthetase deficiency","GSS"]
[null,null,"Hemolytic anemia due to hexokinase deficiency","HK1"]
[null,null,"Anemia, sideroblastic, 4","HSPA9"]
[null,null,"Anemia, dyserythropoietic congenital, type IV","KLF1"]
[null,null,"Majeed syndrome","LPIN2"]
[null,null,"Homocystinuria-megaloblastic anemia, cblG complementation type","MTR"]
[null,null,"Homocystinuria-megaloblastic anemia, cbl E type","MTRR"]
[null,null,"Anemia, hemolytic, due to UMPH1 deficiency","NT5C3A"]
[null,null,"Pyruvate kinase deficiency","PKLR"]
[null,null,"Myopathy, lactic acidosis, and sideroblastic anemia 1, Mitochondrial myopathy","PUS1"]
[null,null,"Anemia, hemolytic, Rh-null, regulator type","RHAG"]
[null,null,"Anemia, dyserythropoietic congenital, type II","SEC23B"]
[null,null,"Anemia, hypochromic microcytic, with iron overload 1","SLC11A2"]
[null,null,"Thiamine-responsive megaloblastic anemia syndrome","SLC19A2"]
[null,null,"Anemia, sideroblastic, 2, pyridoxine-refractory, autosomal recessive","SLC25A38"]
[null,null,"Anemia, hypochromic microcytic, with iron overload 2","STEAP3"]
[null,null,"Iron-refractory iron deficiency anemia","TMPRSS6"]
[null,null,"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay","TRNT1"]
[null,null,"Myopathy, lactic acidosis, and sideroblastic anemia 2","YARS2"]
["Anemia, hypochromic microcytic","SLC11A2,STEAP3","Anemia, hypochromic microcytic, with iron overload 1","SLC11A2"]
[null,null,"Anemia, hypochromic microcytic, with iron overload 2","STEAP3"]
["Angelman syndrome","UBE3A","Angelman syndrome","UBE3A"]
["Angelman-like syndrome panel","ARX,ATRX,CDKL5,CNTNAP2,DYRK1A,EHMT1,FOLR1,FOXG1,MBD5,MECP2,MEF2C,NRXN1,OPHN1,PCDH19,PNKP,SLC2A1,SLC9A6,TCF4,TRAPPC9,UBE3A,ZEB2","Epileptic encephalopathy, early infantile, 1","ARX"]
[null,null,"Mental retardation-hypotonic facies syndrome, X-linked","ATRX"]
[null,null,"Epileptic encephalopathy, early infantile, 2","CDKL5"]
[null,null,"Cortical dysplasia-focal epilepsy syndrome","CNTNAP2"]
[null,null,"Mental retardation, autosomal dominant 7","DYRK1A"]
[null,null,"Kleefstra syndrome","EHMT1"]
[null,null,"Neurodegeneration due to cerebral folate transport deficiency","FOLR1"]
[null,null,"Rett syndrome, congenital variant","FOXG1"]
[null,null,"Mental retardation, autosomal dominant 1","MBD5"]
[null,null,"Rett syndrome","MECP2"]
[null,null,"Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations","MEF2C"]
[null,null,"Pitt-Hopkins-like syndrome 2","NRXN1"]
[null,null,"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance","OPHN1"]
[null,null,"Epileptic encephalopathy, early infantile, 9","PCDH19"]
[null,null,"Microcephaly, seizures, and developmental delay","PNKP"]
[null,null,"GLUT1 deficiency syndrome 1, infantile onset, severe","SLC2A1"]
[null,null,"Mental retardation, X-linked syndromic, Christianson type","SLC9A6"]
[null,null,"Pitt-Hopkins syndrome","TCF4"]
[null,null,"Mental retardation, autosomal recessive 13","TRAPPC9"]
[null,null,"Angelman syndrome","UBE3A"]
[null,null,"Mowat-Wilson syndrome","ZEB2"]
["Anhidrosis, isolated, with normal sweat glands","ITPR2","Anhidrosis, isolated, with normal sweat glands","ITPR2"]
["Aniridia","ELP4,PAX6,TRIM44","Aniridia 2","ELP4"]
[null,null,"Aniridia 1","PAX6"]
[null,null,"Aniridia 3","TRIM44"]
["Anonychia congenita","RSPO4","Anonychia congenita","RSPO4"]
["Anterior segment mesenchymal dysgenesis / aphakia","CPAMD8,FOXE3,PITX3","Autosomal-Recessive Anterior Segment Dysgenesis","CPAMD8"]
[null,null,"Anterior segment mesenchymal dysgenesis / aphakia 2","FOXE3"]
[null,null,"Anterior segment mesenchymal dysgenesis / aphakia 1","PITX3"]
["Antithrombin deficiency","SERPINC1","Thrombophilia due to antithrombin III deficiency","SERPINC1"]
["Aortic supravalvular stenosis","ELN,NOTCH1","Aortic supravalvular stenosis","ELN"]
[null,null,"Aortic supravalvular stenosis_NOTCH1","NOTCH1"]
["Aortic valve disease","NOTCH1,SMAD6","Aortic valve disease 1","NOTCH1"]
[null,null,"Aortic valve disease 2","SMAD6"]
["Aortopathy (TAAD) / Connective tissue disorders","ACTA2,ADAMTS2,ALDH18A1,ATP6V0A2,ATP7A,B3GALT6,B4GALT7,CBS,CHST14,COL11A1,COL11A2,COL1A1,COL1A2,COL2A1,COL3A1,COL5A1,COL5A2,COL9A1,COL9A2,DSE,EFEMP2,ELN,FBLN5,FBN1,FBN2,FKBP14,FLNA,LOX,LTBP3,LTBP4,MAT2A,MED12,MFAP5,MYH11,MYLK,NOTCH1,PLOD1,PRDM5,PRKG1,PYCR1,RIN2,SKI,SLC2A10,SLC39A13,SMAD3,SMAD4,TGFB2,TGFB3,TGFBR1,TGFBR2,THSD1,ULK4,ZNF469","Aortic aneurysm, familial thoracic 6","ACTA2"]
[null,null,"Ehlers-Danlos Syndrome Type VIIC","ADAMTS2"]
[null,null,"Cutis laxa, autosomal dominant 3","ALDH18A1"]
[null,null,"Cutis laxa, autosomal recessive, type IIA","ATP6V0A2"]
[null,null,"Menkes disease","ATP7A"]
[null,null,"Ehlers-Danlos syndrome, progeroid type, 2","B3GALT6"]
[null,null,"Ehlers-Danlos syndrome with short stature and limb anomalies","B4GALT7"]
[null,null,"Homocystinuria (Hyperhomocysteinemia and thrombosis)","CBS"]
[null,null,"Ehlers-Danlos syndrome, musculocontractural type 1","CHST14"]
[null,null,"Stickler syndrome, type II","COL11A1"]
[null,null,"Stickler syndrome, type III","COL11A2"]
[null,null,"Ehlers-Danlos syndrome, type VIIA","COL1A1"]
[null,null,"Ehlers-Danlos Syndrome Type VIIB","COL1A2"]
[null,null,"Stickler syndrome, type I","COL2A1"]
[null,null,"Ehlers-Danlos syndrome, type IV, type III","COL3A1"]
[null,null,"Ehlers-Danlos syndrome, type I, type II","COL5A1"]
[null,null,"Ehlers-Danlos syndrome, type I","COL5A2"]
[null,null,"Stickler syndrome, type IV","COL9A1"]
[null,null,"Stickler syndrome, type V","COL9A2"]
[null,null,"Ehlers-Danlos syndrome, musculocontractural type 2","DSE"]
[null,null,"Cutis laxa, autosomal recessive, type IB","EFEMP2"]
[null,null,"Cutis laxa, AD","ELN"]
[null,null,"Cutis laxa, autosomal dominant 2","FBLN5"]
[null,null,"Marfan syndrome","FBN1"]
[null,null,"Contractural arachnodactyly, congenital","FBN2"]
[null,null,"Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss","FKBP14"]
[null,null,"Cardiac valvular dysplasia, X-linked","FLNA"]
[null,null,"Aortic aneurysm, familial thoracic 10","LOX"]
[null,null,"Aortic aneurysm, familial thoracic_LTBP3","LTBP3"]
[null,null,"Cutis laxa, autosomal recessive, type IC","LTBP4"]
[null,null,"Thoracid aortic disease","MAT2A"]
[null,null,"Lujan Fryns syndrome","MED12"]
[null,null,"Aortic aneurysm, familial thoracic 9","MFAP5"]
[null,null,"Aortic aneurysm, familial thoracic 4","MYH11"]
[null,null,"Aortic aneurysm, familial thoracic 7","MYLK"]
[null,null,"Adams-Oliver syndrome 5","NOTCH1"]
[null,null,"Ehlers-Danlos Syndrome Type VI","PLOD1"]
[null,null,"Brittle cornea syndrome 2","PRDM5"]
[null,null,"Aortic aneurysm, Familial thoracic 8 ","PRKG1"]
[null,null,"Cutis laxa, autosomal recessive, type IIB","PYCR1"]
[null,null,"Macrocephaly, alopecia, cutis laxa, and scoliosis","RIN2"]
[null,null,"Shprintzen-Goldberg syndrome","SKI"]
[null,null,"Arterial tortuosity syndrome","SLC2A10"]
[null,null,"Spondylocheirodysplasia, Ehlers-Danlos syndrome-like","SLC39A13"]
[null,null,"Loeys-Dietz syndrome, type 3","SMAD3"]
[null,null,"Myhre syndrome","SMAD4"]
[null,null,"Loeys-Dietz syndrome, type 4","TGFB2"]
[null,null,"Loeys-Dietz syndrome 5","TGFB3"]
[null,null,"Loeys-Dietz syndrome, type 1A, type 2A","TGFBR1"]
[null,null,"Loeys-Dietz syndrome, type 1B, type 2B","TGFBR2"]
[null,null,"FAMILIAL ANEURYSM","THSD1"]
[null,null,"Acute Aortic Dissections","ULK4"]
[null,null,"Brittle cornea syndrome 1","ZNF469"]
["Aortopathy (TAAD) core panel","ACTA2,CBS,COL3A1,COL5A1,COL5A2,FBN1,FBN2,FLNA,MAT2A,MED12,MFAP5,MYH11,MYLK,NOTCH1,PRKG1,SKI,SLC2A10,SMAD3,SMAD4,TGFB2,TGFB3,TGFBR1,TGFBR2","Aortic aneurysm, familial thoracic 6","ACTA2"]
[null,null,"Homocystinuria (Hyperhomocysteinemia and thrombosis)","CBS"]
[null,null,"Ehlers-Danlos syndrome, type IV, type III","COL3A1"]
[null,null,"Ehlers-Danlos syndrome, type I, type II","COL5A1"]
[null,null,"Ehlers-Danlos syndrome, type I","COL5A2"]
[null,null,"Marfan syndrome","FBN1"]
[null,null,"Contractural arachnodactyly, congenital","FBN2"]
[null,null,"Cardiac valvular dysplasia, X-linked","FLNA"]
[null,null,"Thoracid aortic disease","MAT2A"]
[null,null,"Lujan Fryns syndrome","MED12"]
[null,null,"Aortic aneurysm, familial thoracic 9","MFAP5"]
[null,null,"Aortic aneurysm, familial thoracic 4","MYH11"]
[null,null,"Aortic aneurysm, familial thoracic 7","MYLK"]
[null,null,"Adams-Oliver syndrome 5","NOTCH1"]
[null,null,"Aortic aneurysm, Familial thoracic 8 ","PRKG1"]
[null,null,"Shprintzen-Goldberg syndrome","SKI"]
[null,null,"Arterial tortuosity syndrome","SLC2A10"]
[null,null,"Loeys-Dietz syndrome, type 3","SMAD3"]
[null,null,"Myhre syndrome","SMAD4"]
[null,null,"Loeys-Dietz syndrome, type 4","TGFB2"]
[null,null,"Loeys-Dietz syndrome 5","TGFB3"]
[null,null,"Loeys-Dietz syndrome, type 1A, type 2A","TGFBR1"]
[null,null,"Loeys-Dietz syndrome, type 1B, type 2B","TGFBR2"]
["Aplasia cutis congenita, nonsyndromic","BMS1","Aplasia cutis congenita, nonsyndromic","BMS1"]
["Apparent mineralcorticoid excess","HSD11B2","Apparent mineralcorticoid excess","HSD11B2"]
["Arginemia","ARG1","Arginemia","ARG1"]
["Argininosuccinic aciduria","ASL","Argininosuccinic aciduria","ASL"]
["Arhinia microphthalmia","SMCHD1","Arhinia microphthalmia","SMCHD1"]
["Aromatic L-amino acid decarboxylase deficiency","DDC","Aromatic L-amino acid decarboxylase deficiency","DDC"]
["Arrhthymia / cardiac conduction defect","ABCC9,AKAP9,ANK2,CACNA1C,CACNA1D,CACNB2,CALM1,CALM2,CASQ2,CAV3,CTNNA3,DPP6,DSC2,DSG2,DSP,GJA5,GPD1L,HCN4,JUP,KCNA5,KCND3,KCNE1,KCNE2,KCNE3,KCNH2,KCNJ2,KCNJ5,KCNQ1,MYH6,MYL4,NPPA,NUP155,PKP2,PRKAG2,RYR2,SCN1B,SCN2B,SCN3B,SCN4B,SCN5A,SGOL1,SLC4A3,SNTA1,TECRL,TGFB3,TMEM43,TNNI3K,TRDN,TRPM4","Atrial fibrillation, familial, 12","ABCC9"]
[null,null,"Long QT syndrome 11","AKAP9"]
[null,null,"Long QT syndrome 4","ANK2"]
[null,null,"Brugada syndrome 3","CACNA1C"]
[null,null,"Sinoatrial node dysfunction and deafness","CACNA1D"]
[null,null,"Brugada syndrome 4","CACNB2"]
[null,null,"Long QT syndrome 14","CALM1"]
[null,null,"Long QT syndrome 15","CALM2"]
[null,null,"Ventricular tachycardia, catecholaminergic polymorphic, 2","CASQ2"]
[null,null,"Long QT syndrome 9","CAV3"]
[null,null,"Arrhythmogenic right ventricular dysplasia 13","CTNNA3"]
[null,null,"Ventricular fibrillation, paroxysmal familial, 2","DPP6"]
[null,null,"Arrhythmogenic right ventricular dysplasia 11","DSC2"]
[null,null,"Arrhythmogenic right ventricular dysplasia 10","DSG2"]
[null,null,"Arrhythmogenic right ventricular dysplasia 8","DSP"]
[null,null,"Atrial fibrillation, familial, 11","GJA5"]
[null,null,"Brugada syndrome 2","GPD1L"]
[null,null,"Brugada syndrome 8","HCN4"]
[null,null,"Arrhythmogenic right ventricular dysplasia 12","JUP"]
[null,null,"Atrial fibrillation, familial, 7","KCNA5"]
[null,null,"Brugada syndrome 9","KCND3"]
[null,null,"Long QT syndrome 5","KCNE1"]
[null,null,"Atrial fibrillation, familial, 4","KCNE2"]
[null,null,"Brugada syndrome 6","KCNE3"]
[null,null,"Long QT syndrome 2","KCNH2"]
[null,null,"Atrial fibrillation, familial, 9","KCNJ2"]
[null,null,"Long QT syndrome 13","KCNJ5"]
[null,null,"Atrial fibrillation, familial, 3","KCNQ1"]
[null,null,"Sick sinus syndrome 3","MYH6"]
[null,null,"Atrial fibrillation, familial, 18","MYL4"]
[null,null,"Atrial fibrillation, familial, 6","NPPA"]
[null,null,"Atrial fibrillaion familial 15","NUP155"]
[null,null,"Arrhythmogenic right ventricular dysplasia 9","PKP2"]
[null,null,"Wolff-Parkinson-White syndrome","PRKAG2"]
[null,null,"Arrhythmogenic right ventricular dysplasia 2","RYR2"]
[null,null,"Brugada syndrome 5","SCN1B"]
[null,null,"Atrial fibrillation, familial, 14","SCN2B"]
[null,null,"Brugada syndrome 7","SCN3B"]
[null,null,"Long QT syndrome 10","SCN4B"]
[null,null,"Ventricular fibrillation, familial, 1","SCN5A"]
[null,null,"Chronic atrial and intestinal dysrhythmia","SGOL1"]
[null,null,"Short QT syndrome_SLC4A3","SLC4A3"]
[null,null,"Long QT syndrome 12","SNTA1"]
[null,null,"Ventricular tachycardia, catecholaminergic polymorphic, 3","TECRL"]
[null,null,"Arrhythmogenic right ventricular dysplasia 1","TGFB3"]
[null,null,"Arrhythmogenic right ventricular dysplasia 5","TMEM43"]
[null,null,"Cardiac conduction disease with or without dilated cardiomyopathy","TNNI3K"]
[null,null,"Ventricular tachycardia, catecholaminergic polymorphic, 5","TRDN"]
[null,null,"Progressive familial heart block, type IB","TRPM4"]
["Arrhythmogenic right ventricular dysplasia","CTNNA3,DSC2,DSG2,DSP,JUP,PKP2,RYR2,TGFB3,TMEM43","Arrhythmogenic right ventricular dysplasia 13","CTNNA3"]
[null,null,"Arrhythmogenic right ventricular dysplasia 11","DSC2"]
[null,null,"Arrhythmogenic right ventricular dysplasia 10","DSG2"]
[null,null,"Arrhythmogenic right ventricular dysplasia 8","DSP"]
[null,null,"Arrhythmogenic right ventricular dysplasia 12","JUP"]
[null,null,"Arrhythmogenic right ventricular dysplasia 9","PKP2"]
[null,null,"Arrhythmogenic right ventricular dysplasia 2","RYR2"]
[null,null,"Arrhythmogenic right ventricular dysplasia 1","TGFB3"]
[null,null,"Arrhythmogenic right ventricular dysplasia 5","TMEM43"]
["Arthrogryposis","ECEL1,FBN2,GLDN,GLE1,KIAA1109,LGI4,MYBPC1,MYH3,MYH8,NTN1,PIEZO2,TNNI2,TNNT3,TPM2,VIPAS39,VPS33B","Arthrogryposis, distal, type 5D","ECEL1"]
[null,null,"Contractural arachnodactyly, congenital","FBN2"]
[null,null,"Lethal Arthrogryposis","GLDN"]
[null,null,"Arthrogryposis, lethal, with anterior horn cell disease","GLE1"]
[null,null,"Disorder of brain development with arthrogryposis","KIAA1109"]
[null,null,"Arthrogryposis Multiplex Congenita","LGI4"]
[null,null,"Arthrogryposis, distal, type 1B","MYBPC1"]
[null,null,"Arthrogryposis, distal, type 8","MYH3"]
[null,null,"Arthrogryposis, distal, type 7","MYH8"]
[null,null,"Arthrogryposis, distal, type 9","NTN1"]
[null,null,"Arthrogryposis, distal, type 5","PIEZO2"]
[null,null,"Arthrogryposis multiplex congenita, distal, type 2B","TNNI2"]
[null,null,"Arthyrgryposis, distal, type 2B","TNNT3"]
[null,null,"Arthrogryposis multiplex congenita, distal, type 1","TPM2"]
[null,null,"Arthrogryposis, renal dysfunction, and cholestasis 2","VIPAS39"]
[null,null,"Arthrogryposis, renal dysfunction, and cholestasis 1","VPS33B"]
["Arthrogryposis, renal dysfunction, and cholestasis","VIPAS39,VPS33B","Arthrogryposis, renal dysfunction, and cholestasis 2","VIPAS39"]
[null,null,"Arthrogryposis, renal dysfunction, and cholestasis 1","VPS33B"]
["Asparagine synthetase deficiency","ASNS","Asparagine synthetase deficiency","ASNS"]
["Aspartylglycosaminuria","AGA","Aspartylglycosaminuria","AGA"]
["Asplenia, isolated congenital","RPSA","Asplenia, isolated congenital","RPSA"]
["Ataxia","ABCB7,ABHD12,ACO2,ADCK3,AFG3L2,AIFM1,ANO10,APTX,ATCAY,ATM,ATP2B3,ATP7B,ATP8A2,C10orf2,CA8,CACNA1A,CACNA1G,CACNB4,CAMTA1,CCDC88C,CLCN2,COQ2,CWF19L1,CYP27A1,DNAJC19,DNAJC3,EBF3,EEF2,ELOVL4,ELOVL5,FAT2,FGF14,FLVCR1,FXN,GM2A,GRID2,GRM1,HEXA,HEXB,IFRD1,ITPR1,KCNA1,KCNC3,KCND3,KCNJ10,KIAA0226,KIF1C,MARS2,MME,MRE11A,MTPAP,NPC1,NPC2,OPA1,PCNA,PDYN,PIK3R5,PLD3,PNKP,POLG,POLR3A,PRICKLE1,PRKCG,PTRH2,RNF170,RNF216,RNU12,SACS,SAMD9L,SCN8A,SCYL1,SETX,SIL1,SLC1A3,SLC9A1,SNX14,SPTBN2,STUB1,SYNE1,SYT14,TDP1,TDP2,TENM3,TGM6,TMEM240,TRAPPC11,TRPC3,TTBK2,TTPA,TUBB2A,TUBB4A,UBA5,VAMP1,VLDLR,VWA3B,WDR81,WWOX,XRCC1,ZNF592","Anemia, sideroblastic, with ataxia","ABCB7"]
[null,null,"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract","ABHD12"]
[null,null,"Infantile cerebellar-retinal degeneration","ACO2"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 9","ADCK3"]
[null,null,"Spinocerebellar ataxia 28","AFG3L2"]
[null,null,"X-linked childhood cerebellar ataxia","AIFM1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 10","ANO10"]
[null,null,"Ataxia with oculomotor apraxia 1","APTX"]
[null,null,"Ataxia, cerebellar, Cayman type","ATCAY"]
[null,null,"Ataxia Telangiectasia","ATM"]
[null,null,"Spinocerebellar ataxia, X-linked 1","ATP2B3"]
[null,null,"Wilson disease","ATP7B"]
[null,null,"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4","ATP8A2"]
[null,null,"Infantile onset spinocerebellar ataxia","C10orf2"]
[null,null,"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3","CA8"]
[null,null,"Episodic ataxia, type 2","CACNA1A"]
[null,null,"Spinocerebellar ataxia 42","CACNA1G"]
[null,null,"Episodic ataxia, type 5","CACNB4"]
[null,null,"Cerebellar ataxia, nonprogressive, with mental retardation","CAMTA1"]
[null,null,"Spinocerebellar ataxia 40","CCDC88C"]
[null,null,"Leukoencephalopathy with ataxia","CLCN2"]
[null,null,"Coenzyme Q10 deficiency, primary, 1","COQ2"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 17","CWF19L1"]
[null,null,"Cerebrotendinous Xanthomatosis","CYP27A1"]
[null,null,"Dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies","DNAJC19"]
[null,null,"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus","DNAJC3"]
[null,null,"ENCEPHALOPATHY, ATAXIA","EBF3"]
[null,null,"Spinocerebellar ataxia 26","EEF2"]
[null,null,"Spinocerebellar ataxia 34","ELOVL4"]
[null,null,"Spinocerebellar ataxia 38","ELOVL5"]
[null,null,"Spinocerebellar ataxia 45","FAT2"]
[null,null,"Spinocerebellar ataxia 27","FGF14"]
[null,null,"Ataxia, posterior column, with retinitis pigmentosa","FLVCR1"]
[null,null,"Friedreich ataxia","FXN"]
[null,null,"AB Variant  (GM2 gangliosidoses)","GM2A"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 18","GRID2"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 13","GRM1"]
[null,null,"Tay Sachs disease (GM2 gangliosidoses)","HEXA"]
[null,null,"Sandhoff disease (GM2 gangliosidoses)","HEXB"]
[null,null,"Spinocerebellar ataxia 18","IFRD1"]
[null,null,"Spinocerebellar ataxia 15 / 29","ITPR1"]
[null,null,"Episodic ataxia 1","KCNA1"]
[null,null,"Spinocerebellar ataxia 13","KCNC3"]
[null,null,"Spinocerebellar ataxia 19","KCND3"]
[null,null,"SESAME syndrome","KCNJ10"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 15","KIAA0226"]
[null,null,"Spastic ataxia 2, autosomal recessive","KIF1C"]
[null,null,"Spastic ataxia 3, autosomal recessive","MARS2"]
[null,null,"Spinocerebellar ataxia 43","MME"]
[null,null,"Ataxia-telangiectasia-like disorder 1","MRE11A"]
[null,null,"Spastic ataxia 4","MTPAP"]
[null,null,"Niemann-Pick disease, type C1, D","NPC1"]
[null,null,"Niemann-pick disease, type C2","NPC2"]
[null,null,"Optic atrophy plus syndrome","OPA1"]
[null,null,"Ataxia-telangiectasia-like disorder 2","PCNA"]
[null,null,"Spinocerebellar ataxia 23","PDYN"]
[null,null,"Ataxia-oculomotor apraxia 3","PIK3R5"]
[null,null,"Spinocerebellar ataxia 46","PLD3"]
[null,null,"Ataxia-oculomotor apraxia 4","PNKP"]
[null,null,"Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)","POLG"]
[null,null,"Tremor ataxia with central hypomyelination","POLR3A"]
[null,null,"Progressive myoclonus epilepsy-ataxia syndrome","PRICKLE1"]
[null,null,"Spinocerebellar ataxia 14","PRKCG"]
[null,null,"Ataxia, developmental delay,hearing loss","PTRH2"]
[null,null,"Ataxia, sensory, 1, autosomal dominant","RNF170"]
[null,null,"Cerebellar ataxia and hypogonadotropic hypogonadism","RNF216"]
[null,null,"early onset cerebellar ataxia","RNU12"]
[null,null,"ARSACS","SACS"]
[null,null,"Ataxia-pancytopenia","SAMD9L"]
[null,null,"Cognitive impairment with or without cerebellar ataxia","SCN8A"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 21","SCYL1"]
[null,null,"Ataxia-oculomotor apraxia 2","SETX"]
[null,null,"Marinesco-Sjogren syndrome","SIL1"]
[null,null,"Episodic ataxia, type 6","SLC1A3"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 19","SLC9A1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 20","SNX14"]
[null,null,"Spinocerebellar ataxia 5","SPTBN2"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 16","STUB1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 8","SYNE1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 11","SYT14"]
[null,null,"Spinocerebellar ataxia, autosomal recessive with axonal neuropathy","TDP1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 23","TDP2"]
[null,null,"Spinocerebellar ataxia 30-candidate","TENM3"]
[null,null,"Spinocerebellar ataxia 35","TGM6"]
[null,null,"Spinocerebellar ataxia 21","TMEM240"]
[null,null,"Myopathy and movement disorder","TRAPPC11"]
[null,null,"Spinocerebellar ataxia 41","TRPC3"]
[null,null,"Spinocerebellar ataxia 11","TTBK2"]
[null,null,"Ataxia with isolated vitamin E deficiency","TTPA"]
[null,null,"Spastic ataxia_TUBB2A","TUBB2A"]
[null,null,"Leukoencephalopathy with spastic ataxia","TUBB4A"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 24","UBA5"]
[null,null,"Spastic ataxia 1, autosomal dominant","VAMP1"]
[null,null,"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1","VLDLR"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 22","VWA3B"]
[null,null,"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2","WDR81"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 12","WWOX"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 26","XRCC1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 5","ZNF592"]
["Ataxia, dominant","AFG3L2,CACNA1G,CCDC88C,EEF2,ELOVL4,ELOVL5,FAT2,FGF14,GRM1,IFRD1,ITPR1,KCNC3,KCND3,MME,OPA1,PDYN,PLD3,PRKCG,RNU12,SCN8A,SPTBN2,TENM3,TGM6,TMEM240,TRPC3,TTBK2,TUBB2A","Spinocerebellar ataxia 28","AFG3L2"]
[null,null,"Spinocerebellar ataxia 42","CACNA1G"]
[null,null,"Spinocerebellar ataxia 40","CCDC88C"]
[null,null,"Spinocerebellar ataxia 26","EEF2"]
[null,null,"Spinocerebellar ataxia 34","ELOVL4"]
[null,null,"Spinocerebellar ataxia 38","ELOVL5"]
[null,null,"Spinocerebellar ataxia 45","FAT2"]
[null,null,"Spinocerebellar ataxia 27","FGF14"]
[null,null,"Spinocerebellar ataxia 44","GRM1"]
[null,null,"Spinocerebellar ataxia 18","IFRD1"]
[null,null,"Spinocerebellar ataxia 15 / 29","ITPR1"]
[null,null,"Spinocerebellar ataxia 13","KCNC3"]
[null,null,"Spinocerebellar ataxia 19","KCND3"]
[null,null,"Spinocerebellar ataxia 43","MME"]
[null,null,"Optic atrophy plus syndrome","OPA1"]
[null,null,"Spinocerebellar ataxia 23","PDYN"]
[null,null,"Spinocerebellar ataxia 46","PLD3"]
[null,null,"Spinocerebellar ataxia 14","PRKCG"]
[null,null,"early onset cerebellar ataxia","RNU12"]
[null,null,"Cognitive impairment with or without cerebellar ataxia","SCN8A"]
[null,null,"Spinocerebellar ataxia 5","SPTBN2"]
[null,null,"Spinocerebellar ataxia 30-candidate","TENM3"]
[null,null,"Spinocerebellar ataxia 35","TGM6"]
[null,null,"Spinocerebellar ataxia 21","TMEM240"]
[null,null,"Spinocerebellar ataxia 41","TRPC3"]
[null,null,"Spinocerebellar ataxia 11","TTBK2"]
[null,null,"Spastic ataxia_TUBB2A","TUBB2A"]
["Ataxia, recessive","ADCK3,ANO10,APTX,ATCAY,ATM,ATP7B,C10orf2,CWF19L1,FXN,GM2A,GRID2,GRM1,HEXA,HEXB,KIAA0226,MRE11A,NPC1,NPC2,PCNA,PIK3R5,PNKP,RNF216,SACS,SCYL1,SETX,SIL1,SLC9A1,SNX14,SPTBN2,STUB1,SYNE1,SYT14,TDP1,TDP2,TTPA,UBA5,VWA3B,WWOX,XRCC1,ZNF592","Spinocerebellar ataxia, autosomal recessive 9","ADCK3"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 10","ANO10"]
[null,null,"Ataxia with oculomotor apraxia 1","APTX"]
[null,null,"Ataxia, cerebellar, Cayman type","ATCAY"]
[null,null,"Ataxia Telangiectasia","ATM"]
[null,null,"Wilson disease","ATP7B"]
[null,null,"Infantile onset spinocerebellar ataxia","C10orf2"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 17","CWF19L1"]
[null,null,"Friedreich ataxia","FXN"]
[null,null,"AB Variant  (GM2 gangliosidoses)","GM2A"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 18","GRID2"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 13","GRM1"]
[null,null,"Tay Sachs disease (GM2 gangliosidoses)","HEXA"]
[null,null,"Sandhoff disease (GM2 gangliosidoses)","HEXB"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 15","KIAA0226"]
[null,null,"Ataxia-telangiectasia-like disorder 1","MRE11A"]
[null,null,"Niemann-Pick disease, type C1, D","NPC1"]
[null,null,"Niemann-pick disease, type C2","NPC2"]
[null,null,"Ataxia-telangiectasia-like disorder 2","PCNA"]
[null,null,"Ataxia-oculomotor apraxia 3","PIK3R5"]
[null,null,"Ataxia-oculomotor apraxia 4","PNKP"]
[null,null,"Cerebellar ataxia and hypogonadotropic hypogonadism","RNF216"]
[null,null,"ARSACS","SACS"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 21","SCYL1"]
[null,null,"Ataxia-oculomotor apraxia 2","SETX"]
[null,null,"Marinesco-Sjogren syndrome","SIL1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 19","SLC9A1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 20","SNX14"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 14","SPTBN2"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 16","STUB1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 8","SYNE1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 11","SYT14"]
[null,null,"Spinocerebellar ataxia, autosomal recessive with axonal neuropathy","TDP1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 23","TDP2"]
[null,null,"Ataxia with isolated vitamin E deficiency","TTPA"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 24","UBA5"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 22","VWA3B"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 12","WWOX"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 26","XRCC1"]
[null,null,"Spinocerebellar ataxia, autosomal recessive 5","ZNF592"]
["Atelosteogenesis","FLNB,SLC26A2","Atelosteogenesis, type I, type III","FLNB"]
[null,null,"Atelosteogenesis II","SLC26A2"]
["Athabaskan brainstem dysgenesis syndrome","HOXA1","Athabaskan brainstem dysgenesis syndrome / Bosley-Salih-Alorainy syndrome","HOXA1"]
["Atrial fibrillation, familial","ABCC9,GJA5,KCNA5,KCNE2,KCNJ2,KCNQ1,MYL4,NPPA,NUP155,SCN1B,SCN2B,SCN3B,SCN4B,SCN5A,SGOL1","Atrial fibrillation, familial, 12","ABCC9"]
[null,null,"Atrial fibrillation, familial, 11","GJA5"]
[null,null,"Atrial fibrillation, familial, 7","KCNA5"]
[null,null,"Atrial fibrillation, familial, 4","KCNE2"]
[null,null,"Atrial fibrillation, familial, 9","KCNJ2"]
[null,null,"Atrial fibrillation, familial, 3","KCNQ1"]
[null,null,"Atrial fibrillation, familial, 18","MYL4"]
[null,null,"Atrial fibrillation, familial, 6","NPPA"]
[null,null,"Atrial fibrillaion familial 15","NUP155"]
[null,null,"Atrial fibrillation, familial, 13","SCN1B"]
[null,null,"Atrial fibrillation, familial, 14","SCN2B"]
[null,null,"Atrial fibrillaion familial 16","SCN3B"]
[null,null,"Atrial fibrillation familial 1","SCN4B"]
[null,null,"Atrial fibrillation, familial, 10","SCN5A"]
[null,null,"Chronic atrial and intestinal dysrhythmia","SGOL1"]
["Atrial septal defect","ACTC1,CITED2,GATA4,GATA6,MYH6,NKX2-5,TBX20,TLL1","Atrial septal defect 5","ACTC1"]
[null,null,"Atrial septal defect 8","CITED2"]
[null,null,"Atrial septal defect 2","GATA4"]
[null,null,"Atrial septal defect 9","GATA6"]
[null,null,"Atrial septal defect 3","MYH6"]
[null,null,"Atrial septal defect 7","NKX2-5"]
[null,null,"Atrial septal defect 4","TBX20"]
[null,null,"Atrial septal defect 6","TLL1"]
["Atrioventricular septal defect ","CRELD1,GATA4,GATA6,GJA1","Atrioventricular septal defect 2","CRELD1"]
[null,null,"Atrioventricular septal defect 4","GATA4"]
[null,null,"Atrioventricular septal defect 5","GATA6"]
[null,null,"Atrioventricular septal defect 3","GJA1"]
["Atypical hemolytic uremic syndrome","C3,CD46,CFB,CFH,CFHR1,CFHR3,CFHR4,CFHR5,CFI,DGKE,MMACHC,PLG,THBD","Complement component 3 deficiency","C3"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 2","CD46"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 4","CFB"]
[null,null,"Complement factor H deficiency","CFH"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to","CFHR1"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to_CFHR3","CFHR3"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to_CFHR4","CFHR4"]
[null,null,"Nephropathy due to CFHR5 deficiency","CFHR5"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 3","CFI"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 7","DGKE"]
[null,null,"Methylmalonic aciduria and homocystinuria, cblC type","MMACHC"]
[null,null,"Plasminogen deficiency, type 1","PLG"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 6","THBD"]
["Auditory neuropathy","AIFM1,DIAPH3,OTOF,TMEM126A","Deafness, X-linked 5","AIFM1"]
[null,null,"Auditory neuropathy, autosomal dominant, 1","DIAPH3"]
[null,null,"Deafness, autosomal recessive 9","OTOF"]
[null,null,"autosomal recessive optic atrophy and auditory neuropathy","TMEM126A"]
["Aural atresia","TSHZ1","Aural atresia, congenital","TSHZ1"]
["Auriculocondylar syndrome","EDN1,GNAI3,PLCB4","Auriculocondylar syndrome 3","EDN1"]
[null,null,"Auriculocondylar syndrome 1","GNAI3"]
[null,null,"Auriculocondylar syndrome 2","PLCB4"]
["Autism panel","ADNP,ALDH5A1,AMT,AP1S2,ARID1B,ARX,ATRX,BCKDK,BRAF,CACNA1C,CASK,CDKL5,CHD7,CHD8,CNTNAP2,CREBBP,CTNNB1,DHCR7,DYRK1A,EHMT1,FGD1,FMR1,FOLR1,FOXG1,FOXP1,FOXP2,GABRB3,GRIN2B,HDAC8,HOXA1,HPRT1,KDM5C,KIRREL3,L1CAM,LAMC3,MBD5,MECP2,MED12,MEF2C,MID1,NHS,NIPBL,NLGN3,NLGN4X,NRXN1,NSD1,NTNG1,OPHN1,PAFAH1B1,PCDH19,PHF6,PIK3CA,PNKP,PQBP1,PTCHD1,PTEN,PTPN11,RAB39B,RAD21,RAI1,RELN,SCN1A,SCN2A,SETBP1,SETD2,SHANK3,SLC2A1,SLC9A6,SMC1A,SMC3,STXBP1,SYNE1,TBL1XR1,TBR1,TCF4,TMEM231,TMLHE,TSC1,TSC2,TUBA1A,UBE3A,UBE3C,VPS13B,ZEB2","Mental retardation, autosomal dominant 28 /HELSMOORTEL-VAN DER AA SYNDROME","ADNP"]
[null,null,"Succinic semialdehyde dehydrogenase deficiency","ALDH5A1"]
[null,null,"Glycine encephalopathy_AMT","AMT"]
[null,null,"Mental retardation, X-linked syndromic 5","AP1S2"]
[null,null,"Mental retardation, autosomal dominant 12","ARID1B"]
[null,null,"Mental retardation, X-linked 29 and others","ARX"]
[null,null,"Mental retardation-hypotonic facies syndrome, X-linked","ATRX"]
[null,null,"Branched-chain ketoacid dehydrogenase kinase deficiency","BCKDK"]
[null,null,"Noonan syndrome 7/LEOPARD syndrome 3","BRAF"]
[null,null,"Timothy syndrome","CACNA1C"]
[null,null,"Mental retardation and microcephaly with pontine and cerebellar hypoplasia","CASK"]
[null,null,"Epileptic encephalopathy, early infantile, 2","CDKL5"]
[null,null,"CHARGE syndrome 1","CHD7"]
[null,null,"Autism, susceptibility to, 18","CHD8"]
[null,null,"Cortical dysplasia-focal epilepsy syndrome","CNTNAP2"]
[null,null,"Rubinstein-Taybi syndrome 1","CREBBP"]
[null,null,"Mental retardation, autosomal dominant 19","CTNNB1"]
[null,null,"Smith Lemli Opitz syndrome","DHCR7"]
[null,null,"Mental retardation, autosomal dominant 7","DYRK1A"]
[null,null,"Kleefstra syndrome","EHMT1"]
[null,null,"Aarskog-Scott syndrome","FGD1"]
[null,null,"Premature ovarian failure 1","FMR1"]
[null,null,"Neurodegeneration due to cerebral folate transport deficiency","FOLR1"]
[null,null,"Rett syndrome, congenital variant","FOXG1"]
[null,null,"Mental retardation with language impairment and autistic features","FOXP1"]
[null,null,"Speech-language disorder-1","FOXP2"]
[null,null,"Epileptic encephalopathy, early infantile, 43","GABRB3"]
[null,null,"Mental retardation, autosomal dominant 6","GRIN2B"]
[null,null,"Cornelia de Lange syndrome 5","HDAC8"]
[null,null,"Bosley-Salih-Alorainy syndrome","HOXA1"]
[null,null,"Lesch-Nyhan syndrome","HPRT1"]
[null,null,"Mental retardation, X-linked, syndromic, Claes-Jensen type","KDM5C"]
[null,null,"Mental retardation, autosomal dominant 4","KIRREL3"]
[null,null,"Hydrocephalus due to aqueductal stenosis","L1CAM"]
[null,null,"Cortical malformations, occipital","LAMC3"]
[null,null,"Mental retardation, autosomal dominant 1","MBD5"]
[null,null,"Mental retardation, X-linked syndromic, Lubs type","MECP2"]
[null,null,"FG syndrome 1","MED12"]
[null,null,"Mental retardation, autosomal dominant 20","MEF2C"]
[null,null,"Opitz GBBB syndrome, type I","MID1"]
[null,null,"Nance-Horan syndrome","NHS"]
[null,null,"Cornelia de Lange syndrome 1","NIPBL"]
[null,null,"Asperger syndrome susceptibility, X-linked 1","NLGN3"]
[null,null,"Mental retardation, X-linked","NLGN4X"]
[null,null,"Pitt-Hopkins-like syndrome 2","NRXN1"]
[null,null,"Sotos syndrome 1","NSD1"]
[null,null,"Rett syndrome_candidate","NTNG1"]
[null,null,"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance","OPHN1"]
[null,null,"Lissencephaly 1","PAFAH1B1"]
[null,null,"Epileptic encephalopathy, early infantile, 9","PCDH19"]
[null,null,"Borjeson-Forssman-Lehmann syndrome","PHF6"]
[null,null,"CLOVE syndrome / Cowden 5","PIK3CA"]
[null,null,"Microcephaly, seizures, and developmental delay","PNKP"]
[null,null,"Mental retardation, X-linked 55","PQBP1"]
[null,null,"Autism, susceptibility to, X-linked 4","PTCHD1"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Noonan syndrome 1","PTPN11"]
[null,null,"Mental retardation, X-linked 72","RAB39B"]
[null,null,"Cornelia de Lange syndrome 4","RAD21"]
[null,null,"Smith Magenis syndrome","RAI1"]
[null,null,"Lissencephaly 2 (Norman-Roberts type)","RELN"]
[null,null,"Epilepsy, generalized, with febrile seizures plus, type 2","SCN1A"]
[null,null,"Epileptic encephalopathy, early infantile, 11","SCN2A"]
[null,null,"Mental retardation, autosomal dominant 29","SETBP1"]
[null,null,"Luscan-Lumish syndrome","SETD2"]
[null,null,"Phelan-McDermid syndrome","SHANK3"]
[null,null,"GLUT1 deficiency syndrome","SLC2A1"]
[null,null,"Mental retardation, X-linked syndromic, Christianson type","SLC9A6"]
[null,null,"Cornelia de Lange syndrome 2","SMC1A"]
[null,null,"Cornelia de Lange syndrome 3","SMC3"]
[null,null,"Epileptic encephalopathy, early infantile, 4","STXBP1"]
[null,null,"Emery-Dreifuss muscular dystrophy 4, autosomal dominant","SYNE1"]
[null,null,"Mental retardation, autosomal dominant 41 (Pierpont syndrome)","TBL1XR1"]
[null,null,"Autism_TBR1","TBR1"]
[null,null,"Pitt-Hopkins syndrome","TCF4"]
[null,null,"Joubert syndrome 20","TMEM231"]
[null,null,"Autism, susceptibility to, X-linked 6","TMLHE"]
[null,null,"Tuberous sclerosis 1","TSC1"]
[null,null,"Tuberous sclerosis 2","TSC2"]
[null,null,"Lissencephaly 3","TUBA1A"]
[null,null,"Angelman syndrome","UBE3A"]
[null,null,"Autism_UBE3C","UBE3C"]
[null,null,"Cohen syndrome","VPS13B"]
[null,null,"Mowat-Wilson syndrome","ZEB2"]
["Autoimmune disease, syndromic multisystem","ITCH","Autoimmune disease, syndromic multisystem","ITCH"]
["Autoimmune lymphoproliferative syndrome","CASP10,CASP8,CTLA4,FAS,FASLG,KRAS,PRKCD,RASGRP1","Autoimmune lymphoproliferative syndrome, type 2","CASP10"]
[null,null,"Autoimmune lymphoproliferative syndrome, type IIB","CASP8"]
[null,null,"Autoimmune lymphoproliferative syndrome, type V","CTLA4"]
[null,null,"Autoimmune lymphoproliferative syndrome, type 1a","FAS"]
[null,null,"Autoimmune lymphoproliferative syndrome, type IB","FASLG"]
[null,null,"RAS-associated autoimmune leukoproliferative disorder","KRAS"]
[null,null,"Autoimmune lymphoproliferative syndrome, type III","PRKCD"]
[null,null,"Autoimmune lymphoproliferative syndrome_RASGRP1","RASGRP1"]
["Autoinflammation with arthritis and dyskeratosis","NLRP1","Autoinflammation with arthritis and dyskeratosis","NLRP1"]
["Autoinflammation, lipodystrophy, and dermatosis syndrome","PSMB8","Autoinflammation, lipodystrophy, and dermatosis syndrome","PSMB8"]
["Autoinflammation, panniculitis, and dermatosis syndrome","FAM105B","Autoinflammation, panniculitis, and dermatosis syndrome","FAM105B"]
["Autosomal-recessive intraosseous vascular malformations ","ELMO2","Autosomal-recessive intraosseous vascular malformations ","ELMO2"]
["Avascular necrosis of femoral head, primary","COL2A1,TRPV4","Avascular necrosis of femoral head, primary, 1","COL2A1"]
[null,null,"Avascular necrosis of femoral head, primary, 2","TRPV4"]
["Axenfeld-Rieger syndrome","FOXC1,PITX2","Axenfeld-Rieger syndrome, type 3","FOXC1"]
[null,null,"Axenfeld-Rieger syndrome, type 1","PITX2"]
["Axial Spondylometaphyseal Dysplasia","C21ORF2","Axial Spondylometaphyseal Dysplasia","C21ORF2"]
["Bainbridge-Ropers syndrome","ASXL3","Bainbridge-Ropers syndrome","ASXL3"]
["Bamforth-Lazarus syndrome","FOXE1","Bamforth-Lazarus syndrome","FOXE1"]
["Band heterotopia","EML1","Band heterotopia","EML1"]
["Baraitser-Winter syndrome","ACTB,ACTG1","Baraitser-Winter syndrome 1","ACTB"]
[null,null,"Baraitser-Winter syndrome 2","ACTG1"]
["Bardet Biedl syndrome","ARL6,BBIP1,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,C8orf37,CEP290,IFT172,IFT27,LZTFL1,MKKS,MKS1,NPHP1,SDCCAG8,TRIM32,TTC8,WDPCP","Bardet-Biedl syndrome 3","ARL6"]
[null,null,"Bardet-Biedl syndrome 18","BBIP1"]
[null,null,"Bardet-Biedl syndrome 1","BBS1"]
[null,null,"Bardet-Biedl syndrome 10","BBS10"]
[null,null,"Bardet-Biedl syndrome 12","BBS12"]
[null,null,"Bardet-Biedl syndrome 2","BBS2"]
[null,null,"Bardet-Biedl syndrome 4","BBS4"]
[null,null,"Bardet-Biedl syndrome 5","BBS5"]
[null,null,"Bardet-Biedl syndrome 7","BBS7"]
[null,null,"Bardet-Biedl syndrome 9","BBS9"]
[null,null,"Bardet-Biedl syndrome 21","C8orf37"]
[null,null,"Bardet-Biedl syndrome 14","CEP290"]
[null,null,"Bardet-Biedl syndrome 20","IFT172"]
[null,null,"Bardet-Biedl syndrome 19","IFT27"]
[null,null,"Bardet-Biedl syndrome 17","LZTFL1"]
[null,null,"Bardet-Biedl syndrome 6","MKKS"]
[null,null,"Bardet-Biedl syndrome 13","MKS1"]
[null,null,"Bardet Biedl syndrome","NPHP1"]
[null,null,"Bardet-Biedl syndrome 16","SDCCAG8"]
[null,null,"Bardet-Biedl syndrome 11","TRIM32"]
[null,null,"Bardet-Biedl syndrome 8","TTC8"]
[null,null,"Bardet-Biedl syndrome 15","WDPCP"]
["Bare lymphocyte syndrome","CIITA,RFX5,RFXANK,RFXAP,TAP1,TAP2,TAPBP","Bare lymphocyte syndrome type II, complementation group A","CIITA"]
[null,null,"Bare lymphocyte syndrome, type II, complementation group C","RFX5"]
[null,null,"MHC class II deficiency, complementation group B","RFXANK"]
[null,null,"Bare lymphocyte syndrome, type II, complementation group D","RFXAP"]
[null,null,"Bare lymphocyte syndrome, type I","TAP1"]
[null,null,"Bare lymphocyte syndrome, type I, due to TAP2 deficiency","TAP2"]
[null,null,"Bare lymphocyte syndrome 1B","TAPBP"]
["Bartter syndrome","BSND,CLCNKA,CLCNKB,KCNJ1,MAGED2,SLC12A1","Bartter syndrome, type 4a","BSND"]
[null,null,"Bartter syndrome, type 4b, digenic","CLCNKA"]
[null,null,"Bartter syndrome, type 3, type 4b, digenic","CLCNKB"]
[null,null,"Bartter syndrome, type 2","KCNJ1"]
[null,null,"Bartter syndrome, type 5, antenatal, transient","MAGED2"]
[null,null,"Bartter syndrome, type 1","SLC12A1"]
["Basal Cell Nevus Syndrome","PTCH1,PTCH2,SUFU","Basal Cell Nevus Syndrome 1","PTCH1"]
[null,null,"Basal Cell Nevus Syndrome 2","PTCH2"]
[null,null,"Basal Cell Nevus Syndrome 3","SUFU"]
["Beaulieu-Boycott-Innes syndrome","THOC6","Beaulieu-Boycott-Innes syndrome","THOC6"]
["Bernard Soulier syndrome","GP1BA,GP1BB,GP9","Bernard Soulier syndrome, type A1 (recessive), type A2 (dominant) ","GP1BA"]
[null,null,"Bernard Soulier syndrome, type B","GP1BB"]
[null,null,"Bernard Soulier syndrome, type C","GP9"]
["Beta-ureidopropionase deficiency","UPB1","Beta-ureidopropionase deficiency","UPB1"]
["Bethlem myopathy","COL12A1,COL6A1,COL6A2,COL6A3","Bethlem myopathy 2","COL12A1"]
[null,null,"Bethlem myopathy 1","COL6A1"]
[null,null,"Bethlem myopathy 1B\n","COL6A2"]
[null,null,"Bethlem myopathy","COL6A3"]
["Bile acid malabsorption, primary","SLC10A2","Bile acid malabsorption, primary","SLC10A2"]
["Bile acid synthesis defect","ABCD3,ACOX2,AKR1D1,AMACR,CYP7B1,HSD3B7","Bile acid synthesis defect, congenital, 5","ABCD3"]
[null,null,"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6","ACOX2"]
[null,null,"Bile acid synthesis defect, congenital, 2","AKR1D1"]
[null,null,"Bile acid synthesis defect, congenital, 4","AMACR"]
[null,null,"Bile acid synthesis defect, congenital, 3","CYP7B1"]
[null,null,"Bile acid synthesis defect, congenital, 1","HSD3B7"]
["Biotinidase deficiency","BTD","Biotinidase deficiency","BTD"]
["Birk-Barel mental retardation dysmorphism syndrome","KCNK9","Birk-Barel mental retardation dysmorphism syndrome","KCNK9"]
["Blau syndrome","NOD2","Blau syndrome","NOD2"]
["Bleeding disorders","ABCG5,ABCG8,ACTN1,ANKRD26,ANO6,AP3B1,AP3D1,BLOC1S3,BLOC1S6,CYCS,DTNBP1,ETV6,F10,F11,F12,F13A1,F13B,F2,F5,F7,F8,F9,FERMT3,FGA,FGB,FGG,FLI1,FLNA,GATA1,GFI1B,GGCX,GP1BA,GP1BB,GP6,GP9,HOXA11,HPS1,HPS3,HPS4,HPS5,HPS6,ITGA2B,ITGB2,ITGB3,LMAN1,LYST,MCFD2,MECOM,MPL,MYH9,NBEA,NBEAL2,P2RX1,P2RY12,PLA2G4A,PLAU,PRKACG,RASGRP2,RBM8A,RUNX1,SERPINE1,SERPINF2,SLFN14,SRC,TBXA2R,TPM4,TUBB1,VKORC1,VWF,WAS","Thrombocytopenia with sitosterolaemia 1","ABCG5"]
[null,null,"Thrombocytopenia with sitosterolaemia 2","ABCG8"]
[null,null,"Bleeding disorder, platelet-type, 15","ACTN1"]
[null,null,"Thrombocytopenia 2","ANKRD26"]
[null,null,"Scott syndrome","ANO6"]
[null,null,"Hermansky-Pudlak syndrome 2","AP3B1"]
[null,null,"Hermansky-Pudlak syndrome 10","AP3D1"]
[null,null,"Hermansky-Pudlak syndrome 8","BLOC1S3"]
[null,null,"Hermansky-pudlak syndrome 9","BLOC1S6"]
[null,null,"Thrombocytopenia 4","CYCS"]
[null,null,"Hermansky-Pudlak syndrome 7","DTNBP1"]
[null,null,"Thrombocytopenia 5","ETV6"]
[null,null,"Factor X deciciency","F10"]
[null,null,"Factor XI deficiency","F11"]
[null,null,"Factor XII deficiency","F12"]
[null,null,"Factor 13A deficiency","F13A1"]
[null,null,"Factor 13B deficiency","F13B"]
[null,null,"Hypoprothrombinemia / Dysprothrombinemia","F2"]
[null,null,"Factor V deficiency","F5"]
[null,null,"Factor VII deficiency","F7"]
[null,null,"Hemophilia A","F8"]
[null,null,"Hemophilia B","F9"]
[null,null,"Leukocyte adhesion deficiency, type III","FERMT3"]
[null,null,"Dysfibrinogenemia, congenital 1","FGA"]
[null,null,"Dysfibrinogenemia, congenital 2","FGB"]
[null,null,"Dysfibrinogenemia, congenital 3","FGG"]
[null,null,"Bleeding disorder, platelet-type, 21","FLI1"]
[null,null,"FLNA related thrombocytopenia","FLNA"]
[null,null,"Thrombocytopenia with beta-thalassemia, X-linked","GATA1"]
[null,null,"Bleeding disorder, platelet-type, 17","GFI1B"]
[null,null,"Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency","GGCX"]
[null,null,"Bernard Soulier syndrome, type A1 (recessive), type A2 (dominant) ","GP1BA"]
[null,null,"Bernard Soulier syndrome, type B","GP1BB"]
[null,null,"Bleeding disorder, platelet-type, 11","GP6"]
[null,null,"Bernard Soulier syndrome, type C","GP9"]
[null,null,"Radioulnar synostosis with amegakaryocytic thrombocytopenia 1","HOXA11"]
[null,null,"Hermansky-Pudlak syndrome 1","HPS1"]
[null,null,"Hermansky-Pudlak syndrome 3","HPS3"]
[null,null,"Hermansky-Pudlak syndrome 4","HPS4"]
[null,null,"Hermansky-Pudlak syndrome 5","HPS5"]
[null,null,"Hermansky-Pudlak syndrome 6","HPS6"]
[null,null,"Glanzmann thrombasthenia_ITGA2B","ITGA2B"]
[null,null,"Leukocyte adhesion deficiency","ITGB2"]
[null,null,"Glanzmann thrombasthenia_ITGB3","ITGB3"]
[null,null,"Combined factor V and VIII deficiency 1","LMAN1"]
[null,null,"Chediak Higashi","LYST"]
[null,null,"Combined factor V and VIII deficiency 2","MCFD2"]
[null,null,"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2","MECOM"]
[null,null,"Congenital amegakaryocytic thrombocytopenia","MPL"]
[null,null,"Sebastian syndrome","MYH9"]
[null,null,"NBEA bleeding disorder","NBEA"]
[null,null,"Gray platelet syndrome","NBEAL2"]
[null,null,"Bleeding disorder due to P2RX1 defect","P2RX1"]
[null,null,"Bleeding disorder, platelet-type, 8","P2RY12"]
[null,null,"Phospholipase A2, group IV A, deficiency of","PLA2G4A"]
[null,null,"Quebec platelet disorder","PLAU"]
[null,null,"Bleeding disorder, platelet-type, 19","PRKACG"]
[null,null,"Bleeding disorder, platelet-type, 18","RASGRP2"]
[null,null,"Thrombocytopenia with absent radius","RBM8A"]
[null,null,"Familial platelet disorder, with predisposition to AML, with associated myeloid malignancy ","RUNX1"]
[null,null,"PAI1 deficiency","SERPINE1"]
[null,null,"Alpha-2-Plasmin inhibitor deficiency","SERPINF2"]
[null,null,"Bleeding disorder, platelet-type, 20","SLFN14"]
[null,null,"Thrombocytopenia 6","SRC"]
[null,null,"Bleeding disorder, platelet-type, 13, susceptibility to","TBXA2R"]
[null,null,"macrothrombocytopenia","TPM4"]
[null,null,"TUBB1-related thrombocytopenia","TUBB1"]
[null,null,"Vitamin K-dependent clotting factors, combined deficiency of, 2","VKORC1"]
[null,null,"VonWillebrand disease, type 1","VWF"]
[null,null,"Thrombocytopenia, X-linked","WAS"]
["Blepharocheilodontic syndrome","CDH1,CTNND1","Blepharocheilodontic syndrome 1","CDH1"]
[null,null,"Blepharocheilodontic syndrome 2","CTNND1"]
["Blepharophimosis, epicanthus inversus, and ptosis","FOXL2","Blepharophimosis, epicanthus inversus, and ptosis, type 2","FOXL2"]
["Bloom syndrome","BLM","Bloom syndrome","BLM"]
["Bohring-Opitz syndrome","ASXL1","Bohring-Opitz syndrome","ASXL1"]
["Bone marrow failure, familial","DNAJC21,ERCC6L2,MECOM,MYSM1,SRP72,TP53","Bone marrow failure syndrome 3","DNAJC21"]
[null,null,"Bone marrow failure syndrome 2","ERCC6L2"]
[null,null,"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2","MECOM"]
[null,null,"Bone marrow failure syndrome 4","MYSM1"]
[null,null,"Bone marrow failure syndrome 1","SRP72"]
[null,null,"Bone marrow failure_TP53","TP53"]
["Borjeson-Forssman-Lehmann syndrome","PHF6","Borjeson-Forssman-Lehmann syndrome","PHF6"]
["Bosley-Salih-Alorainy syndrome","HOXA1","Bosley-Salih-Alorainy syndrome","HOXA1"]
["Bowen-Conradi syndrome","EMG1","Bowen-Conradi syndrome","EMG1"]
["Brachydactyly","BMP2,GDF5,PTHLH","Brachydactyly, type A2","BMP2"]
[null,null,"Brachydactyly / du pan syndrome/ multiple synostoses","GDF5"]
[null,null,"Brachydactyly, type E2","PTHLH"]
["Brachydactyly-mental retardation syndrome","HDAC4","Brachydactyly-mental retardation syndrome","HDAC4"]
["Brachyolmia","PAPSS2,TRPV4","Brachyolmia 4 with mild epiphyseal and metaphyseal changes","PAPSS2"]
[null,null,"Brachyolmia type 3","TRPV4"]
["Bradyopsia","RGS9,RGS9BP","Bradyopsia 1","RGS9"]
[null,null,"Bradyopsia 2","RGS9BP"]
["Brain Atrophy and Developmental Delay","PTPN23","Brain Atrophy and Developmental Delay","PTPN23"]
["Branched-chain ketoacid dehydrogenase kinase deficiency","BCKDK","Branched-chain ketoacid dehydrogenase kinase deficiency","BCKDK"]
["Branchio-oto-renal syndrome","EYA1,SIX1,SIX5","Brachiootic syndrome 1","EYA1"]
[null,null,"Branchiootic syndrome 3","SIX1"]
[null,null,"Branchiootorenal syndrome 2","SIX5"]
["Brittle Cornea Syndrome","PRDM5,ZNF469","Brittle Cornea Syndrome 2","PRDM5"]
[null,null,"Brittle Cornea Syndrome 1","ZNF469"]
["Brody disease","ATP2A1","Brody disease","ATP2A1"]
["Bronchiectasis","SCNN1A,SCNN1B,SCNN1G","Bronchiectasis with or without elevated sweat chloride 2","SCNN1A"]
[null,null,"Bronchiectasis with or without elevated sweat chloride 1","SCNN1B"]
[null,null,"Bronchiectasis with or without elevated sweat chloride 3","SCNN1G"]
["Brooke-Spiegler syndrome","CYLD","Brooke-Spiegler syndrome","CYLD"]
["Brown-Vialetto Van Laere syndrome","SLC52A2,SLC52A3","Brown-Vialetto-Van Laere syndrome 2","SLC52A2"]
[null,null,"Brown-Vialetto Van Laere syndrome","SLC52A3"]
["Bruck syndrome","PLOD2","Bruck syndrome 2","PLOD2"]
["Brugada syndrome","CACNA1C,CACNB2,GPD1L,HCN4,KCND3,KCNE3,SCN1B,SCN3B,SCN5A","Brugada syndrome 3","CACNA1C"]
[null,null,"Brugada syndrome 4","CACNB2"]
[null,null,"Brugada syndrome 2","GPD1L"]
[null,null,"Brugada syndrome 8","HCN4"]
[null,null,"Brugada syndrome 9","KCND3"]
[null,null,"Brugada syndrome 6","KCNE3"]
[null,null,"Brugada syndrome 5","SCN1B"]
[null,null,"Brugada syndrome 7","SCN3B"]
[null,null,"Brugada syndrome 1","SCN5A"]
["Brunner syndrome","MAOA","Brunner syndrome","MAOA"]
["Burn-McKeown syndrome","TXNL4A","Burn-McKeown syndrome","TXNL4A"]
["Buschke-Ollendorff syndrome","LEMD3","Buschke-Ollendorff syndrome","LEMD3"]
["C syndrome (Opitz Trignocephaly)","CD96","C syndrome (Opitz Trignocephaly)","CD96"]
["CAKUT","ACE,AGT,AGTR1,BICC1,BMP4,BMP7,CDC5L,CHD1L,CHRM3,DSTYK,EYA1,FGF20,FRAS1,FREM1,FREM2,GATA3,GDNF,GRIP1,HNF1B,HOXA4,HOXB6,HPSE2,ITGA8,NPHP3,PAX2,PBX1,REN,RET,ROBO2,SALL1,SDCCAG8,SIX1,SIX2,SIX5,SOX17,TBX18,TFAP2A,TRAP1,UMOD,UPK3A,WT1","Renal tubular dysgenesis 1","ACE"]
[null,null,"Renal tubular dysgenesis 2","AGT"]
[null,null,"Renal tubular dysgenesis 3","AGTR1"]
[null,null,"Renal dysplasia, cystic, susceptibility to","BICC1"]
[null,null,"Microphthalmia, syndromic 6","BMP4"]
[null,null,"CAKUT 1","BMP7"]
[null,null,"CAKUT_CDC5L","CDC5L"]
[null,null,"CAKUT 2","CHD1L"]
[null,null,"Prune belly syndrome","CHRM3"]
[null,null,"Congenital anomalies of kidney and urinary tract, susceptibility to","DSTYK"]
[null,null,"Branchiootic syndrome 1","EYA1"]
[null,null,"Renal hypodysplasia/aplasia 2","FGF20"]
[null,null,"Fraser syndrome 1","FRAS1"]
[null,null,"Bifid nose with or without anorectal and renal anomalies","FREM1"]
[null,null,"Fraser syndrome 2","FREM2"]
[null,null,"Hypoparathyroidism, sensorineural deafness, and renal dysplasia","GATA3"]
[null,null,"CAKUT 4","GDNF"]
[null,null,"Fraser syndrome 3","GRIP1"]
[null,null,"Renal cysts and diabetes syndrome","HNF1B"]
[null,null,"CAKUT_HOXA4","HOXA4"]
[null,null,"CAKUT_HOXB6","HOXB6"]
[null,null,"Urofacial syndrome 1","HPSE2"]
[null,null,"Renal hypodysplasia/aplasia 1","ITGA8"]
[null,null,"Renal-hepatic-pancreatic dysplasia 1","NPHP3"]
[null,null,"Papillorenal syndrome","PAX2"]
[null,null,"CAKUTHED","PBX1"]
[null,null,"Renal tubular dysgenesis 4","REN"]
[null,null,"CAKUT 5","RET"]
[null,null,"Vesicoureteral reflux 2","ROBO2"]
[null,null,"Townes-Brocks syndrome 1","SALL1"]
[null,null,"Bardet-Biedl syndrome 16","SDCCAG8"]
[null,null,"Branchiootic syndrome 3","SIX1"]
[null,null,"CAKUT 6","SIX2"]
[null,null,"Branchiootorenal syndrome 2","SIX5"]
[null,null,"Vesicoureteral reflux 3","SOX17"]
[null,null,"Congenital anomalies of kidney and urinary tract 2","TBX18"]
[null,null,"Branchiooculofacial syndrome","TFAP2A"]
[null,null,"CAKUT 7","TRAP1"]
[null,null,"Medullary cystic kidney disease 2","UMOD"]
[null,null,"CAKUT 8","UPK3A"]
[null,null,"Nephrotic syndrome, type 4","WT1"]
["Calcification of joints and arteries","NT5E","Calcification of joints and arteries","NT5E"]
["Campomelic dysplasia","SOX9","Campomelic dysplasia with autosomal sex reversal","SOX9"]
["Campomelic dysplasia","SOX9","Campomelic dysplasia with autosomal sex reversal","SOX9"]
["Camptodactyly-arthropathy-coxa vara-pericarditis syndrome","PRG4","Camptodactyly-arthropathy-coxa vara-pericarditis syndrome","PRG4"]
["Camurati-Engelmann disease","TGFB1","Camurati-Engelmann disease","TGFB1"]
["Canavan disease","ASPA","Canavan disease","ASPA"]
["Candidiasis","CARD9,CLEC7A,IL17F,IL17RA,IL17RC,STAT1,TRAF3IP2","Candidiasis, familial, 2, autosomal recessive","CARD9"]
[null,null,"Candidiasis, familial, 4, autosomal recessive","CLEC7A"]
[null,null,"Candidiasis, familial, 6, autosomal dominant","IL17F"]
[null,null,"Candidiasis, familial, 5, autosomal recessive / Immunodeficiency 51","IL17RA"]
[null,null,"Candidiasis, familial, 9","IL17RC"]
[null,null,"Immunodeficiency 31C, autosomal dominant","STAT1"]
[null,null,"Candidiasis, familial, 8","TRAF3IP2"]
["Carboxylesterase 1 deficiency","CES1","Carboxylesterase 1 deficiency","CES1"]
["Carboxypeptidase N deficiency","CPN1","Carboxypeptidase N deficiency","CPN1"]
["Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency","COA5,COA6,COX15,SCO2","Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3","COA5"]
[null,null,"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4","COA6"]
[null,null,"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2","COX15"]
[null,null,"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1","SCO2"]
["Cardiomyopathy","ABCC9,ACTC1,ACTN2,AGK,ALPK3,ANKRD1,BAG3,CALR3,CASZ1,CAV3,CRYAB,CSRP3,DES,DMD,DNAJC19,DSG2,DSP,EYA4,FKTN,FLNC,GATAD1,GLA,GTPBP3,JPH2,LAMA4,LDB3,LMNA,MYBPC3,MYH6,MYH7,MYL2,MYL3,MYLK2,MYOZ2,MYPN,NEXN,PLN,PRDM16,PRKAG2,PSEN1,PSEN2,RAF1,RBM20,SCN5A,SGCD,TAZ,TCAP,TMPO,TNNC1,TNNI3,TNNI3K,TNNT2,TPM1,TTN,VCL","Cardiomyopathy, dilated, 1O","ABCC9"]
[null,null,"Cardiomyopathy, dilated, 1R","ACTC1"]
[null,null,"Cardiomyopathy, dilated, 1AA","ACTN2"]
[null,null,"Sengers syndrome with hypertrophic cardiomyopathy","AGK"]
[null,null,"Cardiomyopathy, familial hypertrophic, 27","ALPK3"]
[null,null,"Cardiomyopathy, familial hypertrophic_ANKRD1","ANKRD1"]
[null,null,"Cardiomyopathy, dilated, 1HH","BAG3"]
[null,null,"Cardiomyopathy, familial hypertrophic, 19","CALR3"]
[null,null,"Cardiomyopathy, dilated","CASZ1"]
[null,null,"Cardiomyopathy, familial hypertrophic_CAV3","CAV3"]
[null,null,"Cardiomyopathy, dilated, 1II","CRYAB"]
[null,null,"Cardiomyopathy, familial hypertrophic, 12","CSRP3"]
[null,null,"Cardiomyopathy, dilated, 1I","DES"]
[null,null,"Cardiomyopathy, dilated, 3B","DMD"]
[null,null,"Dilated cardiomyopathy with ataxia ","DNAJC19"]
[null,null,"Cardiomyopathy, dilated, 1BB","DSG2"]
[null,null,"Dilated cardiomyopathy with woolly hair and keratoderma","DSP"]
[null,null,"Cardiomyopathy, dilated, 1J","EYA4"]
[null,null,"Cardiomyopathy, dilated, 1X","FKTN"]
[null,null,"Cardiomyopathy, familial restrictive 5","FLNC"]
[null,null,"Cardiomyopathy, dilated, 2B","GATAD1"]
[null,null,"Fabry disease, cardiac variant","GLA"]
[null,null,"Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy","GTPBP3"]
[null,null,"Cardiomyopathy, familial hypertrophic 17","JPH2"]
[null,null,"Cardiomyopathy, dilated, 1JJ","LAMA4"]
[null,null,"Cardiomyopathy, dilated 1C","LDB3"]
[null,null,"Cardiomyopathy, dilated, 1A","LMNA"]
[null,null,"Cardiomyopathy, familial hypertrophic, 4","MYBPC3"]
[null,null,"Cardiomyopathy, familial hypertrophic, 14","MYH6"]
[null,null,"Cardiomyopathy, familial hypertrophic, 1","MYH7"]
[null,null,"Cardiomyopathy, familial hypertrophic, 10","MYL2"]
[null,null,"Cardiomyopathy, familial hypertrophic, 8","MYL3"]
[null,null,"Cardiomyopathy, hypertrophic, midventricular, digenic","MYLK2"]
[null,null,"Cardiomyopathy, familial hypertrophic, 16","MYOZ2"]
[null,null,"Cardiomyopathy, familial restrictive 4","MYPN"]
[null,null,"Cardiomyopathy, familial hypertrophic, 20","NEXN"]
[null,null,"Cardiomyopathy, familial hypertrophic, 18","PLN"]
[null,null,"Cardiomyopathy, dilated, 1LL","PRDM16"]
[null,null,"Cardiomyopathy, familial hypertrophic, 6","PRKAG2"]
[null,null,"Cardiomyopathy, dilated, 1U","PSEN1"]
[null,null,"Cardiomyopathy, dilated, 1V","PSEN2"]
[null,null,"Cardiomyopathy, dilated, 1NN","RAF1"]
[null,null,"Cardiomyopathy, dilated, 1DD","RBM20"]
[null,null,"Cardiomyopathy, dilated, 1E","SCN5A"]
[null,null,"Cardiomyopathy, dilated, 1L","SGCD"]
[null,null,"Barth syndrome","TAZ"]
[null,null,"Cardiomyopathy, familial hypertrophic, 25","TCAP"]
[null,null,"Cardiomyopathy, dilated, 1T","TMPO"]
[null,null,"Cardiomyopathy, familial hypertrophic, 13","TNNC1"]
[null,null,"Cardiomyopathy, familial restrictive 1","TNNI3"]
[null,null,"Cardiac conduction disease with or without dilated cardiomyopathy","TNNI3K"]
[null,null,"Cardiomyopathy, familial restrictive, 3","TNNT2"]
[null,null,"Cardiomyopathy, familial hypertrophic, 3","TPM1"]
[null,null,"Cardiomyopathy, dilated, 1G","TTN"]
[null,null,"Cardiomyopathy, familial hypertrophic, 15","VCL"]
["Cardiomyopathy, dilated","ABCC9,ACTC1,ACTN2,BAG3,CASZ1,CRYAB,CSRP3,DES,DMD,DNAJC19,DSG2,DSP,EYA4,FKTN,GATAD1,LAMA4,LDB3,LMNA,MYBPC3,MYH6,MYH7,MYPN,NEXN,PLN,PRDM16,PSEN1,PSEN2,RAF1,RBM20,SCN5A,SGCD,TCAP,TMPO,TNNC1,TNNI3,TNNI3K,TNNT2,TPM1,TTN,VCL","Cardiomyopathy, dilated, 1O","ABCC9"]
[null,null,"Cardiomyopathy, dilated, 1R","ACTC1"]
[null,null,"Cardiomyopathy, dilated, 1AA","ACTN2"]
[null,null,"Cardiomyopathy, dilated, 1HH","BAG3"]
[null,null,"Cardiomyopathy, dilated","CASZ1"]
[null,null,"Cardiomyopathy, dilated, 1II","CRYAB"]
[null,null,"Cardiomyopathy, dilated, 1M","CSRP3"]
[null,null,"Cardiomyopathy, dilated, 1I","DES"]
[null,null,"Cardiomyopathy, dilated, 3B","DMD"]
[null,null,"Dilated cardiomyopathy with ataxia ","DNAJC19"]
[null,null,"Cardiomyopathy, dilated, 1BB","DSG2"]
[null,null,"Dilated cardiomyopathy with woolly hair and keratoderma","DSP"]
[null,null,"Cardiomyopathy, dilated, 1J","EYA4"]
[null,null,"Cardiomyopathy, dilated, 1X","FKTN"]
[null,null,"Cardiomyopathy, dilated, 2B","GATAD1"]
[null,null,"Cardiomyopathy, dilated, 1JJ","LAMA4"]
[null,null,"Cardiomyopathy, dilated 1C","LDB3"]
[null,null,"Cardiomyopathy, dilated, 1A","LMNA"]
[null,null,"Cardiomyopathy, dilated, 1MM","MYBPC3"]
[null,null,"Cardiomyopathy, dilated, 1EE","MYH6"]
[null,null,"Cardiomyopathy, dilated, 1S","MYH7"]
[null,null,"Cardiomyopathy, dilated, 1KK","MYPN"]
[null,null,"Cardiomyopathy, dilated, 1CC","NEXN"]
[null,null,"Cardiomyopathy, dilated, 1P","PLN"]
[null,null,"Cardiomyopathy, dilated, 1LL","PRDM16"]
[null,null,"Cardiomyopathy, dilated, 1U","PSEN1"]
[null,null,"Cardiomyopathy, dilated, 1V","PSEN2"]
[null,null,"Cardiomyopathy, dilated, 1NN","RAF1"]
[null,null,"Cardiomyopathy, dilated, 1DD","RBM20"]
[null,null,"Cardiomyopathy, dilated, 1E","SCN5A"]
[null,null,"Cardiomyopathy, dilated, 1L","SGCD"]
[null,null,"Cardiomyopathy, dilated, 1N","TCAP"]
[null,null,"Cardiomyopathy, dilated, 1T","TMPO"]
[null,null,"Cardiomyopathy, dilated, 1Z","TNNC1"]
[null,null,"Cardiomyopathy, dilated, 1FF, 2A","TNNI3"]
[null,null,"Cardiac conduction disease with or without dilated cardiomyopathy","TNNI3K"]
[null,null,"Cardiomyopathy, dilated, 1D","TNNT2"]
[null,null,"Cardiomyopathy, dilated, 1Y","TPM1"]
[null,null,"Cardiomyopathy, dilated, 1G","TTN"]
[null,null,"Cardiomyopathy, dilated, 1W","VCL"]
["Cardiomyopathy, familial hypertrophic","ACTC1,ACTN2,AGK,ALPK3,ANKRD1,CALR3,CAV3,CSRP3,FLNC,GLA,GTPBP3,JPH2,LDB3,MYBPC3,MYH6,MYH7,MYL2,MYL3,MYLK2,MYOZ2,MYPN,NEXN,PLN,PRKAG2,TAZ,TCAP,TNNC1,TNNI3,TNNT2,TPM1,TTN,VCL","Cardiomyopathy, familial hypertrophic, 11","ACTC1"]
[null,null,"Cardiomyopathy, familial hypertrophic, 23","ACTN2"]
[null,null,"Sengers syndrome with hypertrophic cardiomyopathy","AGK"]
[null,null,"Cardiomyopathy, familial hypertrophic, 27","ALPK3"]
[null,null,"Cardiomyopathy, familial hypertrophic_ANKRD1","ANKRD1"]
[null,null,"Cardiomyopathy, familial hypertrophic, 19","CALR3"]
[null,null,"Cardiomyopathy, familial hypertrophic_CAV3","CAV3"]
[null,null,"Cardiomyopathy, familial hypertrophic, 12","CSRP3"]
[null,null,"Cardiomyopathy, familial hypertrophic, 26","FLNC"]
[null,null,"Fabry disease, cardiac variant","GLA"]
[null,null,"Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy","GTPBP3"]
[null,null,"Cardiomyopathy, familial hypertrophic 17","JPH2"]
[null,null,"Cardiomyopathy, familial hypertrophic, 24","LDB3"]
[null,null,"Cardiomyopathy, familial hypertrophic, 4","MYBPC3"]
[null,null,"Cardiomyopathy, familial hypertrophic, 14","MYH6"]
[null,null,"Cardiomyopathy, familial hypertrophic, 1","MYH7"]
[null,null,"Cardiomyopathy, familial hypertrophic, 10","MYL2"]
[null,null,"Cardiomyopathy, familial hypertrophic, 8","MYL3"]
[null,null,"Cardiomyopathy, hypertrophic, midventricular, digenic","MYLK2"]
[null,null,"Cardiomyopathy, familial hypertrophic, 16","MYOZ2"]
[null,null,"Cardiomyopathy, familial hypertrophic, 22","MYPN"]
[null,null,"Cardiomyopathy, familial hypertrophic, 20","NEXN"]
[null,null,"Cardiomyopathy, familial hypertrophic, 18","PLN"]
[null,null,"Cardiomyopathy, familial hypertrophic, 6","PRKAG2"]
[null,null,"Barth syndrome","TAZ"]
[null,null,"Cardiomyopathy, familial hypertrophic, 25","TCAP"]
[null,null,"Cardiomyopathy, familial hypertrophic, 13","TNNC1"]
[null,null,"Cardiomyopathy, familial hypertrophic, 7","TNNI3"]
[null,null,"Cardiomyopathy, familial hypertrophic, 2","TNNT2"]
[null,null,"Cardiomyopathy, familial hypertrophic, 3","TPM1"]
[null,null,"Cardiomyopathy, familial hypertrophic, 9","TTN"]
[null,null,"Cardiomyopathy, familial hypertrophic, 15","VCL"]
["Cardiomyopathy, familial restrictive","FLNC,MYPN,TNNI3,TNNT2","Cardiomyopathy, familial restrictive 5","FLNC"]
[null,null,"Cardiomyopathy, familial restrictive 4","MYPN"]
[null,null,"Cardiomyopathy, familial restrictive 1","TNNI3"]
[null,null,"Cardiomyopathy, familial restrictive, 3","TNNT2"]
["Carnitine acetyltransferase deficiency","SLC22A5","Carnitine acetyltransferase deficiency","SLC22A5"]
["Carnitine acylcarnitine translocase deficiency","SLC25A20","Carnitine acylcarnitine translocase deficiency","SLC25A20"]
["Carnitine deficiency, systemic primary","SLC22A5","Carnitine deficiency, systemic primary","SLC22A5"]
["Carnitine palmitoyltransferase deficiency","CPT1A,CPT2","Carnitine palmitoyltransferase deficiency I","CPT1A"]
[null,null,"Carnitine palmitoyltransferase deficiency II ","CPT2"]
["Carpenter syndrome","MEGF8,RAB23","Carpenter syndrome 2","MEGF8"]
[null,null,"Carpenter syndrome 1","RAB23"]
["Cataract, multiple types","AGK,BFSP1,BFSP2,BRD4,CHMP4B,CRYAA,CRYAB,CRYBA1,CRYBA2,CRYBA4,CRYBB1,CRYBB2,CRYBB3,CRYGB,CRYGC,CRYGD,CRYGS,EPHA2,FOXE3,FYCO1,GCNT2,GJA3,GJA8,HSF4,LEMD2,LIM2,LSS,MAF,MIP,NHS,PITX3,SIPA1L3,SLC16A12,TDRD7,UNC45B,VIM,WFS1","Cataract 38, autosomal recessive","AGK"]
[null,null,"Cataract 33, multiple types","BFSP1"]
[null,null,"Cataract 12, multiple types","BFSP2"]
[null,null,"Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.","BRD4"]
[null,null,"Cataract 31, multiple types","CHMP4B"]
[null,null,"Cataract 9, multiple types","CRYAA"]
[null,null,"Cataract 16, multiple types","CRYAB"]
[null,null,"Cataract 10, multiple types","CRYBA1"]
[null,null,"Cataract 42","CRYBA2"]
[null,null,"Cataract 23","CRYBA4"]
[null,null,"Cataract 17, multiple types","CRYBB1"]
[null,null,"Cataract 3, multiple types","CRYBB2"]
[null,null,"Cataract 22, autosomal recessive","CRYBB3"]
[null,null,"Cataract 39, multiple types, autosomal dominant","CRYGB"]
[null,null,"Cataract 2, multiple types","CRYGC"]
[null,null,"Cataract 4, multiple types","CRYGD"]
[null,null,"Cataract 20, multiple types","CRYGS"]
[null,null,"Cataract 6, multiple types","EPHA2"]
[null,null,"Cataract 34, multiple types","FOXE3"]
[null,null,"Cataract 18, autosomal recessive","FYCO1"]
[null,null,"Cataract 13 with adult i phenotype","GCNT2"]
[null,null,"Cataract 14, multiple types","GJA3"]
[null,null,"Cataract 1, multiple types","GJA8"]
[null,null,"Cataract 5, multiple types","HSF4"]
[null,null,"Cataract 46","LEMD2"]
[null,null,"Cataract 19","LIM2"]
[null,null,"Cataract 44","LSS"]
[null,null,"Cataract 21, multiple types","MAF"]
[null,null,"Cataract 15, multiple types","MIP"]
[null,null,"Cataract 40, X-linked","NHS"]
[null,null,"Cataract 11, multiple types / syndromic","PITX3"]
[null,null,"Cataract 45","SIPA1L3"]
[null,null,"Cataract 47","SLC16A12"]
[null,null,"Cataract 36","TDRD7"]
[null,null,"Cataract 43","UNC45B"]
[null,null,"Cataract 30, pulverulent","VIM"]
[null,null,"Cataract 41","WFS1"]
["Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia","IARS2","Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia","IARS2"]
["Catel-Manzke syndrome","TGDS","Catel-Manzke syndrome","TGDS"]
["Cenani-Lenz syndactyly syndrome","LRP4","Cenani-Lenz syndactyly syndrome","LRP4"]
["Central hypoventilation","ASCL1,BDNF,GDNF,PHOX2A,PHOX2B,RET","Haddad syndrome","ASCL1"]
[null,null,"Central hypoventilation 1","BDNF"]
[null,null,"Central hypoventilation 2","GDNF"]
[null,null,"Central hypoventilation 4","PHOX2A"]
[null,null,"Central hypoventilation syndrome, congenital, with or without Hirschsprung disease","PHOX2B"]
[null,null,"Central hypoventilation 3","RET"]
["Centronuclear (myotubular) myopathy","BIN1,CCDC78,DNM2,MTM1,MYF6,RYR1,SPEG,TTN","Myopathy, centronuclear, autosomal recessive","BIN1"]
[null,null,"Myopathy, centronuclear, 4","CCDC78"]
[null,null,"Myopathy, centronuclear","DNM2"]
[null,null,"Myotubular myopathy, X-linked","MTM1"]
[null,null,"Myopathy, centronuclear, 3","MYF6"]
[null,null,"Central core disease","RYR1"]
[null,null,"Centronuclear Myopathy with Dilated Cardiomyopathy","SPEG"]
[null,null,"Myopathy, proximal, with early respiratory muscle involvement","TTN"]
["Cerebellofaciodental syndrome","BRF1","Cerebellofaciodental syndrome","BRF1"]
["Cerebral cavernous malformation","CCM2,KRIT1,PDCD10","Cerebral cavernous malformation 2","CCM2"]
[null,null,"Cerebral cavernous malformation 1","KRIT1"]
[null,null,"Cerebral cavernous malformations 3","PDCD10"]
["Cerebral creatine deficiency syndrome","GAMT,GATM,SLC6A8","Cerebral creatine deficiency syndrome 2","GAMT"]
[null,null,"Cerebral creatine deficiency syndrome 3","GATM"]
[null,null,"Cerebral creatine deficiency syndrome 1","SLC6A8"]
["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome","SNAP29","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome","SNAP29"]
["Cerebral palsy, spastic quadriplegic","ADD3,GAD1,KANK1","Cerebral palsy, spastic quadriplegic, 3","ADD3"]
[null,null,"Cerebral palsy, spastic quadriplegic, 1","GAD1"]
[null,null,"Cerebral palsy, spastic quadriplegic, 2","KANK1"]
["Cerebrooculofacioskeletal syndrome","ERCC1,ERCC2,ERCC5,ERCC6","Cerebrooculofacioskeletal syndrome 4","ERCC1"]
[null,null,"Cerebrooculofacioskeletal syndrome 2","ERCC2"]
[null,null,"Cerebrooculofacioskeletal syndrome 3","ERCC5"]
[null,null,"Cerebrooculofacioskeletal syndrome 1","ERCC6"]
["Cerebroretinal microangiopathy with calcifications and cysts","CTC1,OBFC1","Cerebroretinal microangiopathy with calcifications and cysts 1","CTC1"]
[null,null,"Cerebroretinal microangiopathy with calcifications and cysts 2","OBFC1"]
["Ceroid lipofuscinosis, neuronal","ATP13A2,CLN3,CLN5,CLN6,CLN8,CTSD,CTSF,DNAJC5,GRN,KCTD7,MFSD8,PPT1,TPP1","Ceroid lipofuscinosis, neuronal, 12","ATP13A2"]
[null,null,"Ceroid lipofuscinosis, neuronal, 3","CLN3"]
[null,null,"Ceroid lipofuscinosis, neuronal, 5","CLN5"]
[null,null,"Ceroid lipofuscinosis, neuronal, 6","CLN6"]
[null,null,"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant","CLN8"]
[null,null,"Ceroid lipofuscinosis, neuronal, 10","CTSD"]
[null,null,"Ceroid lipofuscinosis, neuronal, 13","CTSF"]
[null,null,"Ceroid lipofuscinosis, neuronal, 4","DNAJC5"]
[null,null,"Ceroid lipofuscinosis, neuronal, 11","GRN"]
[null,null,"Ceroid lipofuscinosis, neuronal, 14","KCTD7"]
[null,null,"Ceroid lipofuscinosis, neuronal, 7","MFSD8"]
[null,null,"Ceroid lipofuscinosis, neuronal, 1","PPT1"]
[null,null,"Ceroid lipofuscinosis, neuronal, 2","TPP1"]
["Char syndrome","TFAP2B","Char syndrome","TFAP2B"]
["Charcot Marie Tooth","AARS,AIFM1,ARHGEF10,ATP1A1,COX6A1,DCAF8,DHTKD1,DNM2,DYNC1H1,EGR2,FBLN5,FGD4,FIG4,GAN,GARS,GDAP1,GJB1,GNB4,HARS,HK1,HSPB1,HSPB8,INF2,KARS,KIF1B,LITAF,LMNA,LRSAM1,MARS,MCM3AP,MED25,MFN2,MME,MORC2,MPZ,MTMR2,NAGLU,NDRG1,NEFH,NEFL,PDK3,PLEKHG5,PMP22,PRPS1,PRX,RAB7A,SBF1,SBF2,SGPL1,SH3TC2,SOX10,SURF1,TFG,TRIM2,TRPV4,VCP,YARS","Charcot-Marie-Tooth disease, axonal, type 2N","AARS"]
[null,null,"Charcot-Marie-Tooth disease, X-linked dominant, 4(Cowchock)","AIFM1"]
[null,null,"Slowed nerve conduction velocity, AD","ARHGEF10"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2DD","ATP1A1"]
[null,null,"Charcot-Marie-Tooth disease, recessive intermediate D","COX6A1"]
[null,null,"Giant axonal neuropathy 2, autosomal dominant","DCAF8"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2Q","DHTKD1"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate B","DNM2"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2O","DYNC1H1"]
[null,null,"Charcot-Marie-Tooth disease, type 4E","EGR2"]
[null,null,"Charcot-Marie-Tooth disease, type 1","FBLN5"]
[null,null,"Charcot-Marie-Tooth disease, type 4H","FGD4"]
[null,null,"Charcot-Marie-Tooth disease, type 4J","FIG4"]
[null,null,"Giant axonal neuropathy-1","GAN"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2D","GARS"]
[null,null,"Charcot-Marie-Tooth disease, type 4A","GDAP1"]
[null,null,"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1","GJB1"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate F","GNB4"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2W","HARS"]
[null,null,"Charcot-Marie-Tooth disease, type 4G (Russe)","HK1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2F","HSPB1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2L","HSPB8"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate E","INF2"]
[null,null,"Charcot-Marie-Tooth disease, recessive intermediate, B","KARS"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2A1","KIF1B"]
[null,null,"Charcot-Marie-Tooth disease, type 1C","LITAF"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2B1","LMNA"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2P","LRSAM1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2U","MARS"]
[null,null,"Charcot Marie Tooth (recessive) with intellectual disability","MCM3AP"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2B2","MED25"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2A2A","MFN2"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2T","MME"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2Z","MORC2"]
[null,null,"Charcot-Marie-Tooth disease, type 1B","MPZ"]
[null,null,"Charcot-Marie-Tooth disease, type 4B1","MTMR2"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2V","NAGLU"]
[null,null,"Charcot-Marie-Tooth disease, type 4D","NDRG1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2CC","NEFH"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2E","NEFL"]
[null,null,"Charcot-Marie-Tooth disease, X-linked dominant, 6","PDK3"]
[null,null,"Charcot-Marie-Tooth disease, recessive intermediate C","PLEKHG5"]
[null,null,"Charcot-Marie-Tooth disease, type 1A","PMP22"]
[null,null,"Charcot-Marie-Tooth disease, X-linked recessive, 5","PRPS1"]
[null,null,"Charcot-Marie-Tooth disease, type 4F","PRX"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2B","RAB7A"]
[null,null,"Charcot-Marie-Tooth disease, type 4B3","SBF1"]
[null,null,"Charcot-Marie-Tooth disease, type 4B2","SBF2"]
[null,null,"Charcot-Marie-Tooth disease","SGPL1"]
[null,null,"Charcot-Marie-Tooth disease, type 4C","SH3TC2"]
[null,null,"PCWH syndrome","SOX10"]
[null,null,"Charcot-Marie-Tooth disease, type 4K","SURF1"]
[null,null,"Hereditary motor and sensory neuropathy, Okinawa type","TFG"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2R","TRIM2"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2C","TRPV4"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2Y","VCP"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate C","YARS"]
["Charcot-Marie-Tooth disease, axonal, type 2","AARS,ATP1A1,DHTKD1,DNM2,DYNC1H1,GARS,GDAP1,HARS,HSPB1,HSPB8,KIF1B,LMNA,LRSAM1,MARS,MED25,MFN2,MME,MORC2,MPZ,NAGLU,NEFH,NEFL,RAB7A,TRIM2,TRPV4,VCP","Charcot-Marie-Tooth disease, axonal, type 2N","AARS"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2DD","ATP1A1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2Q","DHTKD1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2M","DNM2"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2O","DYNC1H1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2D","GARS"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2K","GDAP1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2W","HARS"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2F","HSPB1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2L","HSPB8"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2A1","KIF1B"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2B1","LMNA"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2P","LRSAM1"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2U","MARS"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2B2","MED25"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2A2A","MFN2"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2T","MME"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2Z","MORC2"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2I","MPZ"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2V","NAGLU"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2CC","NEFH"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2E","NEFL"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2B","RAB7A"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2R","TRIM2"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2C","TRPV4"]
[null,null,"Charcot-Marie-Tooth disease, axonal, type 2Y","VCP"]
["Charcot-Marie-Tooth disease, dominant intermediate","DNM2,GNB4,INF2,MPZ,NEFL,YARS","Charcot-Marie-Tooth disease, dominant intermediate B","DNM2"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate F","GNB4"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate E","INF2"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate D","MPZ"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate G","NEFL"]
[null,null,"Charcot-Marie-Tooth disease, dominant intermediate C","YARS"]
["Charcot-Marie-Tooth disease, recessive intermediate","COX6A1,GDAP1,KARS,PLEKHG5","Charcot-Marie-Tooth disease, recessive intermediate D","COX6A1"]
[null,null,"Charcot-Marie-Tooth disease, recessive intermediate, A","GDAP1"]
[null,null,"Charcot-Marie-Tooth disease, recessive intermediate, B","KARS"]
[null,null,"Charcot-Marie-Tooth disease, recessive intermediate C","PLEKHG5"]
["Charcot-Marie-Tooth disease, type 1","EGR2,FBLN5,LITAF,MPZ,NEFL,PMP22","Charcot-Marie-Tooth disease, type 1D","EGR2"]
[null,null,"Charcot-Marie-Tooth disease, type 1","FBLN5"]
[null,null,"Charcot-Marie-Tooth disease, type 1C","LITAF"]
[null,null,"Charcot-Marie-Tooth disease, type 1B","MPZ"]
[null,null,"Charcot-Marie-Tooth disease, type 1F","NEFL"]
[null,null,"Charcot-Marie-Tooth disease, type 1A","PMP22"]
["Charcot-Marie-Tooth disease, type 4","EGR2,FGD4,FIG4,GDAP1,HK1,MCM3AP,MTMR2,NDRG1,PRX,SBF1,SBF2,SH3TC2,SURF1","Charcot-Marie-Tooth disease, type 4E","EGR2"]
[null,null,"Charcot-Marie-Tooth disease, type 4H","FGD4"]
[null,null,"Charcot-Marie-Tooth disease, type 4J","FIG4"]
[null,null,"Charcot-Marie-Tooth disease, type 4A","GDAP1"]
[null,null,"Charcot-Marie-Tooth disease, type 4G (Russe)","HK1"]
[null,null,"Charcot Marie Tooth (recessive) with intellectual disability","MCM3AP"]
[null,null,"Charcot-Marie-Tooth disease, type 4B1","MTMR2"]
[null,null,"Charcot-Marie-Tooth disease, type 4D","NDRG1"]
[null,null,"Charcot-Marie-Tooth disease, type 4F","PRX"]
[null,null,"Charcot-Marie-Tooth disease, type 4B3","SBF1"]
[null,null,"Charcot-Marie-Tooth disease, type 4B2","SBF2"]
[null,null,"Charcot-Marie-Tooth disease, type 4C","SH3TC2"]
[null,null,"Charcot-Marie-Tooth disease, type 4K","SURF1"]
["Charcot-Marie-Tooth neuropathy, X-linked","AIFM1,GJB1,PDK3,PRPS1","Charcot-Marie-Tooth disease, X-linked dominant, 4(Cowchock)","AIFM1"]
[null,null,"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1","GJB1"]
[null,null,"Charcot-Marie-Tooth disease, X-linked dominant, 6","PDK3"]
[null,null,"Charcot-Marie-Tooth disease, X-linked recessive, 5","PRPS1"]
["CHARGE syndrome","CHD7,SEMA3E","CHARGE syndrome 1","CHD7"]
[null,null,"CHARGE syndrome 2","SEMA3E"]
["Chediak Higashi","LYST","Chediak Higashi","LYST"]
["Cherubism","SH3BP2","Cherubism","SH3BP2"]
["CHILD syndrome","NSDHL","CHILD syndrome / CK syndrome","NSDHL"]
["CHIME syndrome","PIGL","CHIME syndrome","PIGL"]
["Choanal atresia and lymphedema","PTPN14","Choanal atresia and lymphedema","PTPN14"]
["Cholestasis","ABCB11,ABCB4,ATP8B1,NR1H4,TJP2,VIPAS39,VPS33B","Cholestasis, progressive familial intrahepatic 2","ABCB11"]
[null,null,"Cholestasis, progressive familial intrahepatic 3","ABCB4"]
[null,null,"Cholestasis, progressive familial intrahepatic 1","ATP8B1"]
[null,null,"Cholestasis, progressive familial intrahepatic, 5","NR1H4"]
[null,null,"Cholestasis, progressive familial intrahepatic 4","TJP2"]
[null,null,"Arthrogryposis, renal dysfunction, and cholestasis 2","VIPAS39"]
[null,null,"Arthrogryposis, renal dysfunction, and cholestasis 1","VPS33B"]
["Chondrodysplasia","AGPS,ARSE,BMPR1B,COL10A1,EBP,GDF5,GNPAT,HDAC6,IMPAD1,NPR2,PEX5,PEX7,PTH1R","Chondrodysplasia punctata, rhizomelic, type 3","AGPS"]
[null,null,"Chondrodysplasia punctata, X-linked recessive","ARSE"]
[null,null,"Acromesomelic dysplasia, Demirhan type","BMPR1B"]
[null,null,"Metaphyseal chondrodysplasia, Schmid type","COL10A1"]
[null,null,"Chondrodysplasia punctata, X-linked dominant","EBP"]
[null,null,"Chondrodysplasia, Grebe type","GDF5"]
[null,null,"Chondrodysplasia punctata, rhizomelic, type 2","GNPAT"]
[null,null,"Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia","HDAC6"]
[null,null,"Chondrodysplasia with joint dislocations, GRAPP type","IMPAD1"]
[null,null,"Epiphyseal chondrodysplasia, Miura type","NPR2"]
[null,null,"Chondrodysplasia punctata, rhizomelic, type 5","PEX5"]
[null,null,"Chondrodysplasia punctata, rhizomelic, type 1","PEX7"]
[null,null,"Chondrodysplasia, Blomstrand type","PTH1R"]
["Chondrodysplasia punctata","AGPS,ARSE,EBP,GNPAT,PEX5,PEX7","Chondrodysplasia punctata, rhizomelic, type 3","AGPS"]
[null,null,"Chondrodysplasia punctata, X-linked recessive","ARSE"]
[null,null,"Chondrodysplasia punctata, X-linked dominant","EBP"]
[null,null,"Rhizomelic chondrodysplasia punctata, type 2","GNPAT"]
[null,null,"Rhizomelic chondrodysplasia punctata, type 5","PEX5"]
[null,null,"Rhizomelic chondrodysplasia punctata, type 1","PEX7"]
["CHOPS syndrome","AFF4","CHOPS syndrome","AFF4"]
["Chorea","NKX2-1,PRNP,VPS13A,XK","Benign hereditary chorea","NKX2-1"]
[null,null,"Huntington disease-like 1","PRNP"]
[null,null,"Neuroacanthocytosis","VPS13A"]
[null,null,"McLeod syndrome","XK"]
["Chorioretinal atrophy","ADAMTS18,TEAD1","Microcornea, myopic chorioretinal atrophy, and telecanthus","ADAMTS18"]
[null,null,"Sveinsson chorioretinal atrophy","TEAD1"]
["Chronic atrial and intestinal dysrhythmia","SGOL1","Chronic atrial and intestinal dysrhythmia","SGOL1"]
["Chronic granulomatous disease","CYBA,CYBB,NCF1,NCF2,NCF4","Chronic granulomatous disease, autosomal, due to deficiency of CYBA","CYBA"]
[null,null,"Chronic granulomatous disease, X-linked","CYBB"]
[null,null,"Chronic granulomatous disease due to deficiency of NCF-1","NCF1"]
[null,null,"Chronic granulomatous disease due to deficiency of NCF-2","NCF2"]
[null,null,"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III","NCF4"]
["chronic recurrent multifocal osteomyelitis","FBLIM1","chronic recurrent multifocal osteomyelitis","FBLIM1"]
["Chudley-McCullough syndrome","GPSM2","Chudley-McCullough syndrome","GPSM2"]
["Cirrhosis","CIRH1A,KRT18,KRT8","Cirrhosis, North American Indian childhood type","CIRH1A"]
[null,null,"Cirrhosis, cryptogenic 1","KRT18"]
[null,null,"Cirrhosis, cryptogenic 2","KRT8"]
["Citrullinemia","ASS1,SLC25A13","Citrullinemia","ASS1"]
[null,null,"Citrullinemia type II","SLC25A13"]
["Cleft","BMP4,CTNND1,HYAL2,IRF6,MSX1,PVRL1,SPECC1L,SUMO1,TBX22,TP63","Orofacial cleft 11","BMP4"]
[null,null,"Cleft lip/Palate_CTNND1","CTNND1"]
[null,null,"CLEFTING","HYAL2"]
[null,null,"Orofacial cleft 6","IRF6"]
[null,null,"Orofacial cleft 5","MSX1"]
[null,null,"Orofacial cleft 7","PVRL1"]
[null,null,"Facial clefting, oblique, 1","SPECC1L"]
[null,null,"Orofacial cleft 10","SUMO1"]
[null,null,"Cleft palate with ankyloglossia","TBX22"]
[null,null,"Orofacial cleft 8, Rapp-Hodgkin syndrome ","TP63"]
["Cleft palate, psychomotor retardation, and distinctive facial features","KDM1A","Cleft palate, psychomotor retardation, and distinctive facial features","KDM1A"]
["Cleidocranial dysplasia","RUNX2","Cleidocranial dysplasia","RUNX2"]
["Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly","PITX1","Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly","PITX1"]
["CNS Hereditary Cancer ","ALK,PHOX2B","Neuroblastoma, susceptibility to, 3","ALK"]
[null,null,"Neural crest derivative tumors","PHOX2B"]
["COACH syndrome","CC2D2A,RPGRIP1L,TMEM67","COACH syndrome 1","CC2D2A"]
[null,null,"COACH syndrome 3","RPGRIP1L"]
[null,null,"COACH syndrome 2","TMEM67"]
["Cockayne syndrome","ERCC6,ERCC8","Cockayne syndrome, type B","ERCC6"]
[null,null,"Cockayne syndrome, type A","ERCC8"]
["Cocoon syndrome","CHUK","Cocoon syndrome","CHUK"]
["CODAS syndrome","LONP1","CODAS syndrome","LONP1"]
["Coenzyme Q10 deficiency","ADCK3,COQ2,COQ4,COQ6,COQ9,PDSS1,PDSS2","Coenzyme Q10 deficiency, primary, 4","ADCK3"]
[null,null,"Coenzyme Q10 deficiency, primary, 1","COQ2"]
[null,null,"Coenzyme Q10 deficiency, primary, 7","COQ4"]
[null,null,"Coenzyme Q10 deficiency, primary, 6","COQ6"]
[null,null,"Coenzyme Q10 deficiency, primary, 5","COQ9"]
[null,null,"Coenzyme Q10 deficiency, primary, 2","PDSS1"]
[null,null,"Coenzyme Q10 deficiency, primary, 3","PDSS2"]
["Coffin-Lowry syndrome","RPS6KA3","Coffin-Lowry syndrome","RPS6KA3"]
["Coffin-Siris syndrome","ARID1A,ARID1B,ARID2,SMARCA4,SMARCB1,SMARCE1","Coffin-Siris syndrome 2","ARID1A"]
[null,null,"Coffin-Siris syndrome 1","ARID1B"]
[null,null,"Coffin-Siris syndrome 6","ARID2"]
[null,null,"Coffin-Siris syndrome 4","SMARCA4"]
[null,null,"Coffin-Siris syndrome 3","SMARCB1"]
[null,null,"Coffin-Siris syndrome 5","SMARCE1"]
["Cold-induced sweating syndrome","CLCF1,CRLF1,KLHL7","Cold-induced sweating syndrome 2","CLCF1"]
[null,null,"Cold-induced sweating syndrome 1","CRLF1"]
[null,null,"Cold-induced sweating syndrome 3","KLHL7"]
["Cole disease","ENPP1","Cole disease","ENPP1"]
["Cole-Carpenter syndrome","P4HB,SEC24D","Cole-Carpenter syndrome","P4HB"]
[null,null,"Cole-Carpenter syndrome 2","SEC24D"]
["Coloboma, syndromic","C12orf57,CHD7,CYP1B1,PAX2,PAX6,PITX2,TFAP2A,YAP1","Temtamy syndrome","C12orf57"]
[null,null,"CHARGE syndrome 1","CHD7"]
[null,null,"Peters anomaly_CYP1B1","CYP1B1"]
[null,null,"Renal coloboma syndrome","PAX2"]
[null,null,"Peters anomaly_PAX6","PAX6"]
[null,null,"Peters anomaly_PITX2","PITX2"]
[null,null,"Branchiooculofacial syndrome","TFAP2A"]
[null,null,"Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation","YAP1"]
["Combined D-2- and L-2-hydroxyglutaric aciduria","SLC25A1","Combined D-2- and L-2-hydroxyglutaric aciduria","SLC25A1"]
["Combined factor V and VIII deficiency","LMAN1,MCFD2","Combined factor V and VIII deficiency 1","LMAN1"]
[null,null,"Combined factor V and VIII deficiency 2","MCFD2"]
["Combined malonic and methylmalonic aciduria","ACSF3","Combined malonic and methylmalonic aciduria","ACSF3"]
["Combined oxidative phosphorylation deficiency","AARS2,AIFM1,ATP5A1,C12orf65,CARS2,EARS2,ELAC2,FARS2,GFM1,GTPBP3,LYRM4,MARS2,MIPEP,MRPL3,MRPL44,MRPS16,MRPS2,MRPS22,MTFMT,MTO1,NARS2,PNPT1,RMND1,SFXN4,SLC25A26,TARS2,TRIT1,TRMT10C,TRMT5,TSFM,TUFM,TXN2,VARS2","Combined oxidative phosphorylation deficiency 8","AARS2"]
[null,null,"Combined oxidative phosphorylation deficiency 6","AIFM1"]
[null,null,"Combined oxidative phosphorylation deficiency 22","ATP5A1"]
[null,null,"Combined oxidative phosphorylation deficiency 7","C12orf65"]
[null,null,"Combined oxidative phosphorylation deficiency 27","CARS2"]
[null,null,"Combined oxidative phosphorylation deficiency 12","EARS2"]
[null,null,"Combined oxidative phosphorylation deficiency 17","ELAC2"]
[null,null,"Combined oxidative phosphorylation deficiency 14","FARS2"]
[null,null,"Combined oxidative phosphorylation deficiency 1","GFM1"]
[null,null,"Combined oxidative phosphorylation deficiency 23","GTPBP3"]
[null,null,"Combined oxidative phosphorylation deficiency 19","LYRM4"]
[null,null,"Combined oxidative phosphorylation deficiency 25","MARS2"]
[null,null,"Combined oxidative phosphorylation deficiency 31","MIPEP"]
[null,null,"Combined oxidative phosphorylation deficiency 9","MRPL3"]
[null,null,"Combined oxidative phosphorylation deficiency 16","MRPL44"]
[null,null,"Combined oxidative phosphorylation deficiency 2","MRPS16"]
[null,null,"Combined oxidative phosphorylation deficiency 36","MRPS2"]
[null,null,"Combined oxidative phosphorylation deficiency 5","MRPS22"]
[null,null,"Combined oxidative phosphorylation deficiency 15","MTFMT"]
[null,null,"Combined oxidative phosphorylation deficiency 10","MTO1"]
[null,null,"Combined oxidative phosphorylation deficiency 24","NARS2"]
[null,null,"Combined oxidative phosphorylation deficiency 13","PNPT1"]
[null,null,"Combined oxidative phosphorylation deficiency 11","RMND1"]
[null,null,"Combined oxidative phosphorylation deficiency 18","SFXN4"]
[null,null,"Combined oxidative phosphorylation deficiency 28","SLC25A26"]
[null,null,"Combined oxidative phosphorylation deficiency 21","TARS2"]
[null,null,"Combined oxidative phosphorylation deficiency 35","TRIT1"]
[null,null,"Combined oxidative phosphorylation deficiency 30","TRMT10C"]
[null,null,"Combined oxidative phosphorylation deficiency 26","TRMT5"]
[null,null,"Combined oxidative phosphorylation deficiency 3","TSFM"]
[null,null,"Combined oxidative phosphorylation deficiency 4","TUFM"]
[null,null,"Combined oxidative phosphorylation deficiency 29","TXN2"]
[null,null,"Combined oxidative phosphorylation deficiency 20","VARS2"]
["Combined SAP deficiency","PSAP","Combined SAP deficiency","PSAP"]
["Complement deficiency","C1QA,C1QB,C1R,C1S,C2,C3,C4A,C4B,C5,C6,C7,C8A,C8B,C9,CFB,CFD,CFH,SERPING1","C1Q deficiency 1","C1QA"]
[null,null,"C1Q deficiency 2","C1QB"]
[null,null,"Complement C1 deficiency","C1R"]
[null,null,"Ehlers-Danlos syndrome, periodontal type, 2","C1S"]
[null,null,"Complement C2 deficiency","C2"]
[null,null,"C3 deficiency","C3"]
[null,null,"C4A deficiency","C4A"]
[null,null,"C4B deficiency","C4B"]
[null,null,"Complement C5 deficiency","C5"]
[null,null,"Complement C6 deficiency","C6"]
[null,null,"Complement C7 deficiency","C7"]
[null,null,"Complement C8 deficiency 1","C8A"]
[null,null,"Complement C8 deficiency 2","C8B"]
[null,null,"Complement C9 deficiency","C9"]
[null,null,"Complement factor B deficiency","CFB"]
[null,null,"Complement factor D deficiency","CFD"]
[null,null,"Complement factor H deficiency","CFH"]
[null,null,"Angioedema, hereditary, types I and II","SERPING1"]
["Complement nephropathy","C1QA,C1QB,C1QC,C3,CD46,CFB,CFH,CFHR1,CFHR3,CFHR4,CFHR5,CFI,DGKE,THBD","C1Q deficiency 1","C1QA"]
[null,null,"C1Q deficiency 2","C1QB"]
[null,null,"C1Q deficiency 3","C1QC"]
[null,null,"Complement component 3 deficiency","C3"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 2","CD46"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 4","CFB"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 1","CFH"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to","CFHR1"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to_CFHR3","CFHR3"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to_CFHR4","CFHR4"]
[null,null,"Nephropathy due to CFHR5 deficiency","CFHR5"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 3","CFI"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 7","DGKE"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 6","THBD"]
["Complex Lethal Osteochondrodysplasia","TAPT1","Complex Lethal Osteochondrodysplasia","TAPT1"]
["Comprehensive Hearing Loss","ABHD12,ACTG1,ADCY1,AIFM1,BCAP31,BSND,C10orf2,CABP2,CACNA1D,CCDC50,CD164,CDC14A,CDH23,CEACAM16,CEP250,CIB2,CLCNKA,CLCNKB,CLDN14,CLIC5,CLPP,CLRN1,COCH,COL11A1,COL11A2,COL2A1,COL4A6,COL9A1,COL9A2,COL9A3,CRYM,DCDC2,DFNA5,DFNB31,DFNB59,DIABLO,DIAPH1,DIAPH3,DMXL2,DSPP,EDN3,EDNRB,ELMOD3,EPS8,ESPN,ESRRB,EYA1,EYA4,FAM189A2,FAM65B,FGF3,FITM2,FLNA,FOXI1,GIPC3,GJB2,GJB3,GJB6,GPR98,GPRASP2,GPSM2,GRHL2,GRXCR1,GRXCR2,HARS,HARS2,HGF,HOMER2,HOXA2,HSD17B4,ILDR1,KARS,KCNE1,KCNJ1,KCNJ10,KCNQ1,KCNQ4,KITLG,LARS2,LHFPL5,LOXHD1,LRTOMT,MAGED2,MARVELD2,MCM2,MET,MIR96,MITF,MSRB3,MYH14,MYH9,MYO15A,MYO1A,MYO3A,MYO6,MYO7A,NLRP3,OSBPL2,OTOA,OTOF,OTOG,OTOGL,P2RX2,PAX3,PCDH15,PDZD7,PNPT1,POLR1C,POLR1D,POU3F4,POU4F3,PRPS1,PTPRQ,RDX,S1PR2,SERPINB6,SIX1,SIX5,SLC12A1,SLC17A8,SLC25A2,SLC26A4,SLC26A5,SLC44A4,SLC52A2,SLC52A3,SLITRK6,SMPX,SNAI2,SOX10,STRC,SYNE4,TBC1D24,TBL1XR1,TCOF1,TECTA,TJP2,TMC1,TMEM126A,TMIE,TMPRSS3,TNC,TPRN,TRIOBP,TSHZ1,TSPEAR,USH1C,USH1G,USH2A,WFS1","Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract","ABHD12"]
[null,null,"Deafness, autosomal dominant 20/26","ACTG1"]
[null,null,"Deafness, autosomal recessive 44","ADCY1"]
[null,null,"Deafness, X-linked 5","AIFM1"]
[null,null,"Deafness, dystonia, and cerebral hypomyelination","BCAP31"]
[null,null,"Bartter syndrome, type 4a","BSND"]
[null,null,"Perrault syndrome 5","C10orf2"]
[null,null,"Deafness, autosomal recessive 93","CABP2"]
[null,null,"Sinoatrial node dysfunction and deafness","CACNA1D"]
[null,null,"Deafness, autosomal dominant 44","CCDC50"]
[null,null,"Deafness, autosomal dominant 66","CD164"]
[null,null,"Deafness, autosomal recessive 105","CDC14A"]
[null,null,"Deafness, autosomal recessive 12","CDH23"]
[null,null,"Deafness, autosomal dominant 4B","CEACAM16"]
[null,null,"Usher-Like","CEP250"]
[null,null,"Deafness, autosomal recessive 48","CIB2"]
[null,null,"Bartter syndrome, type 4b, digenic","CLCNKA"]
[null,null,"Bartter syndrome, type 3, type 4b, digenic","CLCNKB"]
[null,null,"Deafness, autosomal recessive 29","CLDN14"]
[null,null,"Deafness, autosomal recessive 103","CLIC5"]
[null,null,"Perrault syndrome 3","CLPP"]
[null,null,"Usher syndrome, type 3A","CLRN1"]
[null,null,"Deafness, autosomal dominant 9","COCH"]
[null,null,"Stickler syndrome, type II","COL11A1"]
[null,null,"Deafness, autosomal dominant 13","COL11A2"]
[null,null,"Stickler syndrome, type I","COL2A1"]
[null,null,"Deafness, X-linked 6","COL4A6"]
[null,null,"Stickler syndrome, type IV","COL9A1"]
[null,null,"Stickler syndrome, type V","COL9A2"]
[null,null,"Stickler syndrome, type VI","COL9A3"]
[null,null,"Deafness, autosomal dominant 40","CRYM"]
[null,null,"Deafness, autosomal recessive 66","DCDC2"]
[null,null,"Deafness, autosomal dominant 5","DFNA5"]
[null,null,"Deafness, autosomal recessive 31","DFNB31"]
[null,null,"Deafness, autosomal recessive 59","DFNB59"]
[null,null,"Deafness, autosomal dominant 64","DIABLO"]
[null,null,"Deafness, autosomal dominant 1","DIAPH1"]
[null,null,"Auditory neuropathy, autosomal dominant, 1","DIAPH3"]
[null,null,"Deafness, autosomal dominant 71","DMXL2"]
[null,null,"Deafness, autosomal dominant 39, with dentinogenesis","DSPP"]
[null,null,"Waardenburg syndrome, type 4B","EDN3"]
[null,null,"Waardenburg syndrome, type 4A","EDNRB"]
[null,null,"Deafness, autosomal recessive 88","ELMOD3"]
[null,null,"Deafness, autosomal recessive 102","EPS8"]
[null,null,"Deafness, autosomal recessive 36","ESPN"]
[null,null,"Deafness, autosomal recessive 35","ESRRB"]
[null,null,"Brachiootic syndrome 1","EYA1"]
[null,null,"Deafness, autosomal dominant 10","EYA4"]
[null,null,"Deafness, autosomal dominant 51_FAM189A2","FAM189A2"]
[null,null,"Deafness, autosomal recessive 104","FAM65B"]
[null,null,"Deafness with microtia and microdontia","FGF3"]
[null,null,"deafness-dystonia syndrome","FITM2"]
[null,null,"Frontometaphyseal dysplasia 1","FLNA"]
[null,null,"Enlarged vestibular aqueduct","FOXI1"]
[null,null,"Deafness, autosomal recessive 15","GIPC3"]
[null,null,"Deafness, autosomal recessive 1A","GJB2"]
[null,null,"Deafness, autosomal dominant 2B","GJB3"]
[null,null,"Deafness, autosomal recessive 1B","GJB6"]
[null,null,"Usher syndrome, type 2C","GPR98"]
[null,null,"HEARING LOSS-X-LINKED SYNDROMIC","GPRASP2"]
[null,null,"Deafness, autosomal recessive 82/ Chudley-McCullough syndrome","GPSM2"]
[null,null,"Deafness, autosomal dominant 28","GRHL2"]
[null,null,"Deafness, autosomal recessive 25","GRXCR1"]
[null,null,"Deafness, autosomal recessive 101","GRXCR2"]
[null,null,"Usher syndrome type 3B","HARS"]
[null,null,"Perrault syndrome 2","HARS2"]
[null,null,"Deafness, autosomal recessive 39","HGF"]
[null,null,"Deafness, autosomal dominant 68","HOMER2"]
[null,null,"Microtia with or without hearing impairment","HOXA2"]
[null,null,"Perrault syndrome 1","HSD17B4"]
[null,null,"Deafness, autosomal recessive 42","ILDR1"]
[null,null,"Deafness, autosomal recessive 89","KARS"]
[null,null,"Jervell and Lange-Nielsen syndrome 2","KCNE1"]
[null,null,"Bartter syndrome, type 2","KCNJ1"]
[null,null,"Enlarged vestibular aqueduct, digenic","KCNJ10"]
[null,null,"Jervell and Lange-Nielsen syndrome 1","KCNQ1"]
[null,null,"Deafness, autosomal dominant 2A","KCNQ4"]
[null,null,"Deafness, autosomal dominant 69","KITLG"]
[null,null,"Perrault syndrome 4","LARS2"]
[null,null,"Deafness, autosomal recessive 67","LHFPL5"]
[null,null,"Deafness, autosomal recessive 77","LOXHD1"]
[null,null,"Deafness, autosomal recessive 63","LRTOMT"]
[null,null,"Bartter syndrome, type 5, antenatal, transient","MAGED2"]
[null,null,"Deafness, autosomal recessive 49","MARVELD2"]
[null,null,"Deafness, autosomal dominant 70","MCM2"]
[null,null,"Deafness, autosomal recessive 97","MET"]
[null,null,"Deafness, autosomal dominant 50","MIR96"]
[null,null,"Waardenburg syndrome, type 2A","MITF"]
[null,null,"Deafness, autosomal recessive 74","MSRB3"]
[null,null,"Deafness, autosomal dominant 4A","MYH14"]
[null,null,"Deafness, autosomal dominant 17","MYH9"]
[null,null,"Deafness, autosomal recessive 3","MYO15A"]
[null,null,"Deafness, autosomal dominant 48","MYO1A"]
[null,null,"Deafness, autosomal recessive 30","MYO3A"]
[null,null,"Deafness, autosomal dominant 22","MYO6"]
[null,null,"Deafness, autosomal dominant 11","MYO7A"]
[null,null,"Deafness, autosomal dominant 34","NLRP3"]
[null,null,"Deafness, autosomal dominant 67","OSBPL2"]
[null,null,"Deafness, autosomal recessive 22","OTOA"]
[null,null,"Deafness, autosomal recessive 9","OTOF"]
[null,null,"Deafness, autosomal recessive 18B","OTOG"]
[null,null,"Deafness, autosomal recessive 84B","OTOGL"]
[null,null,"Deafness, autosomal dominant 41","P2RX2"]
[null,null,"Waardenburg syndrome, type 1, type 3","PAX3"]
[null,null,"Deafness, autosomal recessive 23","PCDH15"]
[null,null,"Usher syndrome, type IIC","PDZD7"]
[null,null,"Deafness, autosomal recessive 70","PNPT1"]
[null,null,"Treacher Collins syndrome 3","POLR1C"]
[null,null,"Treacher Collins syndrome 2","POLR1D"]
[null,null,"Deafness, X-linked 2","POU3F4"]
[null,null,"Deafness, autosomal dominant 15","POU4F3"]
[null,null,"Deafness, X-linked 1","PRPS1"]
[null,null,"Deafness, autosomal dominant 73","PTPRQ"]
[null,null,"Deafness, autosomal recessive 24","RDX"]
[null,null,"Deafness, autosomal recessive 68","S1PR2"]
[null,null,"Deafness, autosomal recessive 91","SERPINB6"]
[null,null,"Branchiootic syndrome 3","SIX1"]
[null,null,"Branchiootorenal syndrome 2","SIX5"]
[null,null,"Bartter syndrome, type 1","SLC12A1"]
[null,null,"Deafness, autosomal dominant 25","SLC17A8"]
[null,null,"Comprehensive hearing loss panel","SLC25A2"]
[null,null,"Pendred syndrome","SLC26A4"]
[null,null,"Deafness, autosomal recessive 61","SLC26A5"]
[null,null,"Deafness, autosomal dominant 72","SLC44A4"]
[null,null,"Brown-Vialetto-Van Laere syndrome 2","SLC52A2"]
[null,null,"Brown-Vialetto Van Laere syndrome","SLC52A3"]
[null,null,"Deafness and myopia","SLITRK6"]
[null,null,"Deafness, X-linked 4","SMPX"]
[null,null,"Waardenburg syndrome, type 2D","SNAI2"]
[null,null,"Waardenburg syndrome, type 4C","SOX10"]
[null,null,"Deafness, autosomal recessive 16","STRC"]
[null,null,"Deafness, autosomal recessive 76","SYNE4"]
[null,null,"Deafness, autosomal recessive 86","TBC1D24"]
[null,null,"Pierpont Syndrome","TBL1XR1"]
[null,null,"Treacher Collins syndrome 1","TCOF1"]
[null,null,"Deafness, autosomal dominant 8/12","TECTA"]
[null,null,"Deafness, autosomal dominant 51_TJP2","TJP2"]
[null,null,"Deafness, autosomal recessive 7","TMC1"]
[null,null,"autosomal recessive optic atrophy and auditory neuropathy","TMEM126A"]
[null,null,"Deafness, autosomal recessive 6","TMIE"]
[null,null,"Deafness, autosomal recessive 8/10","TMPRSS3"]
[null,null,"Deafness, autosomal dominant 56","TNC"]
[null,null,"Deafness, autosomal recessive 79","TPRN"]
[null,null,"Deafness, autosomal recessive 28","TRIOBP"]
[null,null,"Aural atresia, congenital","TSHZ1"]
[null,null,"Deafness, autosomal recessive 98","TSPEAR"]
[null,null,"Deafness, autosomal recessive 18A","USH1C"]
[null,null,"Usher syndrome, type 1G","USH1G"]
[null,null,"Usher syndrome, type 2A","USH2A"]
[null,null,"Deafness, autosomal dominant 6/14/38","WFS1"]
["Cone-rod dystrophy ","ABCA4,ADAM9,AIPL1,C8orf37,CACNA1F,CACNA2D4,CDHR1,CEP78,CERKL,CNNM4,CRX,DRAM2,GUCA1A,GUCY2D,KCNV2,PDE6C,PDE6H,PITPNM3,POC1B,PROM1,RAB28,RAX2,RIMS1,RPGR,RPGRIP1,SEMA4A,TTLL5,UNC119","Cone-rod dystrophy 3","ABCA4"]
[null,null,"Cone-rod dystrophy 9","ADAM9"]
[null,null,"Cone-rod dystrophy_AIPL1","AIPL1"]
[null,null,"Cone-rod dystrophy 16","C8orf37"]
[null,null,"Cone-rod dystropy, X-linked, 3","CACNA1F"]
[null,null,"Retinal cone dystrophy 4","CACNA2D4"]
[null,null,"Cone-rod dystrophy 15","CDHR1"]
[null,null,"Cone-rod dystrophy associated with primary-cilia defects","CEP78"]
[null,null,"Cone-rod dystrophy_CERKL","CERKL"]
[null,null,"Jalili syndrome","CNNM4"]
[null,null,"Cone-rod dystrophy 2","CRX"]
[null,null,"Cone-rod dystrophy 21","DRAM2"]
[null,null,"Cone dystrophy 3","GUCA1A"]
[null,null,"Cone-rod dystrophy 6","GUCY2D"]
[null,null,"Retinal cone dystrophy 3B","KCNV2"]
[null,null,"Cone dystrophy 4","PDE6C"]
[null,null,"Retinal cone dystrophy 3A","PDE6H"]
[null,null,"Cone-rod dystrophy 5","PITPNM3"]
[null,null,"Cone-rod dystrophy 20","POC1B"]
[null,null,"Cone-rod dystrophy 12","PROM1"]
[null,null,"Cone-rod dystrophy 18","RAB28"]
[null,null,"Cone-rod dystrophy 11","RAX2"]
[null,null,"Cone-rod dystrophy 7","RIMS1"]
[null,null,"Cone-rod dystrophy, X-linked, 1","RPGR"]
[null,null,"Cone-rod dystrophy 13","RPGRIP1"]
[null,null,"Cone-rod dystrophy 10","SEMA4A"]
[null,null,"Cone-rod dystrophy 19","TTLL5"]
[null,null,"Cone-rod dystrophy_UNC119","UNC119"]
["Cone-rod synaptic disorder, congenital nonprogressive","CABP4","Cone-rod synaptic disorder, congenital nonprogressive","CABP4"]
["Congenital cataracts, facial dysmorphism, and neuropathy","CTDP1","Congenital cataracts, facial dysmorphism, and neuropathy","CTDP1"]
["Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay","NALCN","Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay","NALCN"]
["Congenital disorders of glycosylation","ALG1,ALG11,ALG12,ALG13,ALG2,ALG3,ALG6,ALG8,ALG9,B4GALT1,CAD,CCDC115,COG1,COG2,COG4,COG5,COG6,COG7,COG8,DDOST,DOLK,DPAGT1,DPM1,DPM2,DPM3,FUT8,GNE,MGAT2,MOGS,MPDU1,MPI,NUS1,PGM1,PGM3,PMM2,RFT1,SLC35A1,SLC35A2,SLC35C1,SLC39A8,SRD5A3,SSR4,STT3A,STT3B,TMEM165,TMEM199","Congenital disorder of glycosylation, type Ik","ALG1"]
[null,null,"Congenital disorder of glycosylation, type Ip","ALG11"]
[null,null,"Congenital disorder of glycosylation, type Ig","ALG12"]
[null,null,"Congenital disorder of glycosylation, type Is","ALG13"]
[null,null,"Congenital disorder of glycosylation, type Ii","ALG2"]
[null,null,"Congenital disorder of glycosylation, type Id","ALG3"]
[null,null,"Congenital disorder of glycosylation, type Ic","ALG6"]
[null,null,"Congenital disorder of glycosylation, type Ih","ALG8"]
[null,null,"Congenital disorder of glycosylation, type Il","ALG9"]
[null,null,"Congenital disorder of glycosylation, type IId","B4GALT1"]
[null,null,"Congenital disorder of glycosylation, type Iz","CAD"]
[null,null,"Congenital disorder of glycosylation, type Iio","CCDC115"]
[null,null,"Congenital disorder of glycosylation, type IIg","COG1"]
[null,null,"Congenital disorder of glycosylation, type Iiq","COG2"]
[null,null,"Congenital disorder of glycosylation, type IIj","COG4"]
[null,null,"Congenital disorder of glycosylation, type IIi","COG5"]
[null,null,"Congenital disorder of glycosylation, type IIl","COG6"]
[null,null,"Congenital disorder of glycosylation, type IIe","COG7"]
[null,null,"Congenital disorder of glycosylation, type IIh","COG8"]
[null,null,"Congenital disorder of glycosylation, type Ir","DDOST"]
[null,null,"Congenital disorder of glycosylation, type Im","DOLK"]
[null,null,"Congenital disorder of glycosylation, type Ij","DPAGT1"]
[null,null,"Congenital disorder of glycosylation, type Ie","DPM1"]
[null,null,"Congenital disorder of glycosylation, type Iu","DPM2"]
[null,null,"Congenital disorder of glycosylation, type Io","DPM3"]
[null,null,"Congenital disorder of glycosylation with defective fucosylation","FUT8"]
[null,null,"CDG candidate","GNE"]
[null,null,"Congenital disorder of glycosylation, type IIa","MGAT2"]
[null,null,"Congenital disorder of glycosylation, type IIb","MOGS"]
[null,null,"Congenital disorder of glycosylation, type If","MPDU1"]
[null,null,"Congenital disorder of glycosylation, type Ib","MPI"]
[null,null,"Congenital disorder of glycosylation, type Iaa","NUS1"]
[null,null,"Congenital disorder of glycosylation, type It","PGM1"]
[null,null,"Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia","PGM3"]
[null,null,"Congenital disorder of glycosylation, type Ia","PMM2"]
[null,null,"Congenital disorder of glycosylation, type In","RFT1"]
[null,null,"Congenital disorder of glycosylation, type IIf","SLC35A1"]
[null,null,"Congenital disorder of glycosylation, type IIm","SLC35A2"]
[null,null,"Congenital disorder of glycosylation, type IIc","SLC35C1"]
[null,null,"Congenital disorder of glycosylation, type IIn","SLC39A8"]
[null,null,"Congenital disorder of glycosylation, type Iq","SRD5A3"]
[null,null,"Congenital disorder of glycosylation, type Iy","SSR4"]
[null,null,"Congenital disorder of glycosylation, type Iw","STT3A"]
[null,null,"Congenital disorder of glycosylation, type Ix","STT3B"]
[null,null,"Congenital disorder of glycosylation, type IIk","TMEM165"]
[null,null,"Congenital disorder of glycosylation, type IIp","TMEM199"]
["Congenital dyserythropoietic anemias","C15orf41,CDAN1,GATA1,KLF1,LPIN2,SEC23B","Dyserythropoietic anemia, congenital, type Ib","C15orf41"]
[null,null,"Anemia, congenital dyserythropoietic, type Ia","CDAN1"]
[null,null,"Thrombocytopenia, X-linked, with or without dyserythropoietic anemia","GATA1"]
[null,null,"Anemia, dyserythropoietic congenital, type IV","KLF1"]
[null,null,"Majeed syndrome","LPIN2"]
[null,null,"Anemia, dyserythropoietic congenital, type II","SEC23B"]
["Congenital heart defects","ACTC1,CITED2,CRELD1,ELN,GATA4,GATA5,GATA6,GDF1,GJA1,JAG1,MED13L,MYH6,NKX2-5,NKX2-6,NOTCH1,NOTCH2,NR2F2,PRDM6,SMAD6,TAB2,TBX1,TBX20,TBX5,TFAP2B,TLL1,ZFPM2,ZIC3","Atrial septal defect 5","ACTC1"]
[null,null,"Atrial septal defect 8","CITED2"]
[null,null,"Atrioventricular septal defect 2","CRELD1"]
[null,null,"Aortic supravalvular stenosis","ELN"]
[null,null,"Tetralogy of Fallot 2","GATA4"]
[null,null,"Congenital heart defects, multiple types, 5","GATA5"]
[null,null,"Tetralogy of Fallot 3","GATA6"]
[null,null,"Tetralogy of Fallot 1","GDF1"]
[null,null,"Hypoplastic left heart syndrome 1","GJA1"]
[null,null,"Tetralogy of Fallot 4","JAG1"]
[null,null,"Transposition of the great arteries, dextro-looped 1","MED13L"]
[null,null,"Atrial septal defect 3","MYH6"]
[null,null,"Hypoplastic left heart syndrome 2","NKX2-5"]
[null,null,"Conotruncal heart malformations_NKX2-6","NKX2-6"]
[null,null,"Aortic supravalvular stenosis_NOTCH1","NOTCH1"]
[null,null,"Alagille syndrome 2","NOTCH2"]
[null,null,"Congenital heart defects, multiple types, 4","NR2F2"]
[null,null,"Patent ductus arteriosis 3","PRDM6"]
[null,null,"Aortic valve disease 2","SMAD6"]
[null,null,"Congenital heart defects, multiple types, 2","TAB2"]
[null,null,"Tetralogy of Fallot 6","TBX1"]
[null,null,"Atrial septal defect 4","TBX20"]
[null,null,"Holt-Oram syndrome","TBX5"]
[null,null,"Patent ductus arteriosis 2","TFAP2B"]
[null,null,"Atrial septal defect 6","TLL1"]
[null,null,"Tetralogy of Fallot 7","ZFPM2"]
[null,null,"Congenital heart defects, multiple types, 1","ZIC3"]
["Congenital heart defects and ectodermal dysplasia","PRKD1","Congenital heart defects and ectodermal dysplasia","PRKD1"]
["congenital heart defects and skeletal malformations","ABL1","congenital heart defects and skeletal malformations","ABL1"]
["Congenital heart defects, multiple types","GATA5,NR2F2,TAB2,ZIC3","Congenital heart defects, multiple types, 5","GATA5"]
[null,null,"Congenital heart defects, multiple types, 4","NR2F2"]
[null,null,"Congenital heart defects, multiple types, 2","TAB2"]
[null,null,"Congenital heart defects, multiple types, 1","ZIC3"]
["Congenital hyperinsulinism","ABCC8,GCK,GLUD1,HADH,HNF1A,HNF4A,INSR,KCNJ11,SLC16A1,UCP2","Hyperinsulinemic hypoglycemia, familial, 1","ABCC8"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 3","GCK"]
[null,null,"Hyperinsulinism-hyperammonemia syndrome, 6","GLUD1"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 4","HADH"]
[null,null,"Maturity-onset diabetes of the young, type III","HNF1A"]
[null,null,"Maturity-onset diabetes of the young, type I","HNF4A"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 5","INSR"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 2","KCNJ11"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 7","SLC16A1"]
[null,null,"Obesity, susceptibility to, BMIQ4","UCP2"]
["Congenital hypomyelination","ARHGEF10,DARS,SOX10","Slowed nerve conduction velocity, AD","ARHGEF10"]
[null,null,"Hypomyelination with brainstem and spinal cord involvement and leg spasticity","DARS"]
[null,null,"PCWH syndrome","SOX10"]
["Congenital hypothyroidism","NKX2-5,PAX8,THRA,TSHB,TSHR","Hypothyroidism, congenital, nongoitrous, 5","NKX2-5"]
[null,null,"Congenital hypothyroidism 2","PAX8"]
[null,null,"Hypothyroidism, congenital, nongoitrous, 6","THRA"]
[null,null,"Hypothyroidism, congenital, nongoitrous, 4","TSHB"]
[null,null,"Hypothyroidism, congenital, nongoitrous, 1","TSHR"]
["Congenital muscular dystrophy","B3GALNT2,B3GNT1,CHKB,COL12A1,COL6A1,COL6A2,COL6A3,DAG1,FHL1,FKRP,FKTN,GMPPB,GTDC2,INPP5K,ISPD,ITGA7,LAMA2,LARGE,LMNA,POMGNT1,POMT1,POMT2,SEPN1,SGK196,TMEM5,TRIP4","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11","B3GALNT2"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13","B3GNT1"]
[null,null,"Muscular dystrophy, congenital, megaconial type","CHKB"]
[null,null,"Ullrich congenital muscular dystrophy 2","COL12A1"]
[null,null,"Ullrich congenital muscular dystrophy 1_COL6A1","COL6A1"]
[null,null,"Ullrich congenital muscular dystrophy 1_COL6A2","COL6A2"]
[null,null,"Ullrich congenital muscular dystrophy 1_COL6A3","COL6A3"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9","DAG1"]
[null,null,"Emery-Dreifuss muscular dystrophy 6, X-linked","FHL1"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, B5, C5","FKRP"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4, B4, C4","FKTN"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, B14, C14","GMPPB"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8","GTDC2"]
[null,null,"Congenital Muscular Dystrophy with cataracts and Mild Cognitive Impairment","INPP5K"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7","ISPD"]
[null,null,"Muscular dystrophy, congenital, due to ITGA7 deficiency","ITGA7"]
[null,null,"Muscular dystrophy, congenital merosin-deficient","LAMA2"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6","LARGE"]
[null,null,"Muscular dystrophy, congenital","LMNA"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3","POMGNT1"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, B1, C1","POMT1"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, B2, C2","POMT2"]
[null,null,"Muscular dystrophy, rigid spine, 1","SEPN1"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12","SGK196"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10","TMEM5"]
[null,null,"Muscular dystrophy, congenital, Davignon-Chauveau type","TRIP4"]
["Congenital Myasthenic syndrome","AGRN,ALG14,ALG2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,COLQ,DOK7,DPAGT1,GFPT1,LRP4,MUSK,PREPL,RAPSN,SCN4A,SLC18A3,SYT2","Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects","AGRN"]
[null,null,"Myasthenic syndrome, congenital, 15, without tubular aggregates","ALG14"]
[null,null,"Myasthenic syndrome, congenital, 14, with tubular aggregates","ALG2"]
[null,null,"Myasthenic syndrome, congenital, associated with episodic apnea","CHAT"]
[null,null,"Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRNA1","CHRNA1"]
[null,null,"Myasthenic syndrome, slow-channel congenital","CHRNB1"]
[null,null,"Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRND","CHRND"]
[null,null,"Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRNE","CHRNE"]
[null,null,"Myasthenic syndrome, congenital, 5","COLQ"]
[null,null,"Myasthenic syndrome, congenital, 10","DOK7"]
[null,null,"Myasthenic syndrome, congenital, 13, with tubular aggregates","DPAGT1"]
[null,null,"Myasthenia, congenital, 12, with tubular aggregates","GFPT1"]
[null,null,"Myasthenic syndrome, congenital, 17","LRP4"]
[null,null,"Myasthenic syndrome, congenital, 9","MUSK"]
[null,null,"Myasthenic syndrome, congenital, 22","PREPL"]
[null,null,"Myasthenic syndrome, congenital, 11","RAPSN"]
[null,null,"Myasthenic syndrome, congenital, 16","SCN4A"]
[null,null,"Myasthenic syndrome, congenital, 21, presynaptic","SLC18A3"]
[null,null,"Myasthenic syndrome, congenital, 7","SYT2"]
["Congenital myopathy","ACTA1,ACTG2,CACNA1S,CASQ1,CNTN1,COL6A1,COL6A2,COL6A3,GFER,LAMP2,MEGF10,MTM1,MYL2,PNPLA2,PTPLA,RYR1,SCN4A,SEPN1,TRAPPC11,TRIM32,ZAK","Myopathy, congenital, with fiber-type disproportion 1","ACTA1"]
[null,null,"Visceral myopathy","ACTG2"]
[null,null,"Myopathy, central core-candidate","CACNA1S"]
[null,null,"Myopathy, vacuolar, with CASQ1 aggregates","CASQ1"]
[null,null,"Myopathy, congenital, Compton-North","CNTN1"]
[null,null,"Ullrich congenital muscular dystrophy 1_COL6A1","COL6A1"]
[null,null,"Ullrich congenital muscular dystrophy 1_COL6A2","COL6A2"]
[null,null,"Ullrich congenital muscular dystrophy 1_COL6A3","COL6A3"]
[null,null,"Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay","GFER"]
[null,null,"Danon myopathy","LAMP2"]
[null,null,"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset","MEGF10"]
[null,null,"Myotubular myopathy, X-linked","MTM1"]
[null,null,"Myopathy congenital_MYL2","MYL2"]
[null,null,"Neutral lipid storage disease with myopathy","PNPLA2"]
[null,null,"Myopathy congenital_PTPLA","PTPLA"]
[null,null,"Minicore myopathy with external ophthalmoplegia","RYR1"]
[null,null,"Myopathy congenital_SCN4A","SCN4A"]
[null,null,"Myopathy, congenital, with fiber-type disproportion","SEPN1"]
[null,null,"Myopathy and movement disorder","TRAPPC11"]
[null,null,"Myopathy congenital_TRIM32","TRIM32"]
[null,null,"Centronuclear myopathy-6 with fiber-type disproportion","ZAK"]
["Congenital short bowel syndrome","CLMP,FLNA","Congenital short bowel syndrome_CLMP","CLMP"]
[null,null,"Congenital short bowel syndrome_FLNA","FLNA"]
["Congenital Stationary Night Blindness","CABP4,CACNA1F,GNAT1,GNB3,GPR179,GRK1,GRM6,LRIT3,NYX,PDE6B,RHO,SAG,SLC24A1,TRPM1","Cone-rod synaptic disorder, congenital nonprogressive","CABP4"]
[null,null,"Night blindness, congenital stationary (incomplete), 2A, X-linked","CACNA1F"]
[null,null,"Night blindness, congenital stationary, type 1G","GNAT1"]
[null,null,"Night blindness, congenital stationary, type 1H","GNB3"]
[null,null,"Night blindness, congenital stationary (complete), 1E, autosomal recessive","GPR179"]
[null,null,"Oguchi disease-2","GRK1"]
[null,null,"Night blindness, congenital stationary (complete), 1B, autosomal recessive","GRM6"]
[null,null,"Night blindness, congenital stationary (complete), 1F, autosomal recessive","LRIT3"]
[null,null,"Night blindness, congenital stationary (complete), 1A, X-linked","NYX"]
[null,null,"Night blindness, congenital stationary, autosomal dominant 2","PDE6B"]
[null,null,"Night blindness, congenital stationary, autosomal dominant 1","RHO"]
[null,null,"Oguchi disease-1","SAG"]
[null,null,"Night blindness, congenital stationary (complete), 1D, autosomal recessive","SLC24A1"]
[null,null,"Night blindness, congenital stationary (complete), 1C, autosomal recessive","TRPM1"]
["Conotruncal heart malformations","GATA6,GDF1,NKX2-5,NKX2-6,TBX1","Conotruncal heart malformations_GATA6","GATA6"]
[null,null,"Conotruncal heart malformations_GDF1","GDF1"]
[null,null,"Conotruncal heart malformations_NKX2-5","NKX2-5"]
[null,null,"Conotruncal heart malformations_NKX2-6","NKX2-6"]
[null,null,"Conotruncal heart malformations_TBX1","TBX1"]
["Cornea plana congenita","KERA","Cornea plana congenita, recessive","KERA"]
["Corneal dystrophy","AGBL1,CHST6,COL8A2,DCN,GRHL2,KRT12,KRT3,OVOL2,PIKFYVE,SLC4A11,TACSTD2,TCF4,TGFBI,UBIAD1,VSX1,ZEB1","Corneal dystrophy, Fuchs endothelial, 8","AGBL1"]
[null,null,"Macular corneal dystrophy","CHST6"]
[null,null,"Corneal dystrophy, Fuchs endothelial, 1","COL8A2"]
[null,null,"Congenital stromal corneal dystrophy","DCN"]
[null,null,"Corneal dystrophy, posterior polymorphous, 4","GRHL2"]
[null,null,"Meesmann corneal dystrophy_KRT12","KRT12"]
[null,null,"Meesmann corneal dystrophy_KRT3","KRT3"]
[null,null,"Corneal dystrophy, posterior polymorphous, 1","OVOL2"]
[null,null,"Corneal fleck dystrophy","PIKFYVE"]
[null,null,"Corneal endothelial dystrophy 2, autosomal recessive","SLC4A11"]
[null,null,"Corneal dystrophy, gelatinous drop-like","TACSTD2"]
[null,null,"Corneal dystrophy, Fuchs endothelial, 3","TCF4"]
[null,null,"Corneal dystrophy, Avellino type","TGFBI"]
[null,null,"Corneal dystrophy, schnyder type","UBIAD1"]
[null,null,"Corneal dystrophy, hereditary polymorphous posterior","VSX1"]
[null,null,"Corneal dystrophy, fuchs endothelial, 6","ZEB1"]
["Corneal dystrophy, Fuchs endothelial","AGBL1,COL8A2,SLC4A11,TCF4,ZEB1","corneal dystrophy, fuchs endothelial, 8","AGBL1"]
[null,null,"corneal dystrophy, fuchs endothelial, 1","COL8A2"]
[null,null,"corneal dystrophy, fuchs endothelial, 4","SLC4A11"]
[null,null,"corneal dystrophy, fuchs endothelial, 3","TCF4"]
[null,null,"corneal dystrophy, fuchs endothelial, 6","ZEB1"]
["Corneal dystrophy, posterior polymorphous","COL8A2,GRHL2,OVOL2,ZEB1","Corneal dystrophy, posterior polymorphous 2","COL8A2"]
[null,null,"Corneal dystrophy, posterior polymorphous, 4","GRHL2"]
[null,null,"Corneal dystrophy, posterior polymorphous, 1","OVOL2"]
[null,null,"Corneal dystrophy, posterior polymorphous, 3","ZEB1"]
["Cornelia de Lange syndrome","HDAC8,NIPBL,RAD21,SMC1A,SMC3","Cornelia de Lange syndrome 5","HDAC8"]
[null,null,"Cornelia de Lange syndrome 1","NIPBL"]
[null,null,"Cornelia de Lange syndrome 4","RAD21"]
[null,null,"Cornelia de Lange syndrome 2","SMC1A"]
[null,null,"Cornelia de Lange syndrome 3","SMC3"]
["Cortical dysplasia, complex, with other brain malformations","KIF2A,KIF5C,LAMC3,TUBA8,TUBB,TUBB2A,TUBB2B,TUBB3,TUBG1","Cortical dysplasia, complex, with other brain malformations 3","KIF2A"]
[null,null,"Cortical dysplasia, complex, with other brain malformations 2","KIF5C"]
[null,null,"Cortical malformations, occipital","LAMC3"]
[null,null,"Cortical dysplasia, complex, with other brain malformations 8","TUBA8"]
[null,null,"Cortical dysplasia, complex, with other brain malformations 6","TUBB"]
[null,null,"Cortical dysplasia, complex, with other brain malformations 5","TUBB2A"]
[null,null,"Cortical dysplasia, complex, with other brain malformations 7","TUBB2B"]
[null,null,"Cortical dysplasia, complex, with other brain malformations 1","TUBB3"]
[null,null,"Cortical dysplasia, complex, with other brain malformations 4","TUBG1"]
["Corticosteroid-binding globulin deficiency","SERPINA6","Corticosteroid-binding globulin deficiency","SERPINA6"]
["Cortisol resistance","NR3C1","Cortisol resistance","NR3C1"]
["Cortisone reductase deficiency","H6PD,HSD11B1","Cortisone reductase deficiency 1","H6PD"]
[null,null,"Cortisone reductase deficiency 2","HSD11B1"]
["Cousin syndrome","TBX15","Cousin syndrome","TBX15"]
["Cowden syndrome","AKT1,KLLN,PIK3CA,PTEN,SDHB,SDHD,SEC23B","Cowden syndrome 6","AKT1"]
[null,null,"Cowden syndrome 4","KLLN"]
[null,null,"Cowden syndrome 5","PIK3CA"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Cowden syndrome 2","SDHB"]
[null,null,"Cowden syndrome 3","SDHD"]
[null,null,"Cowden syndrome 7","SEC23B"]
["Craniodiaphyseal dysplasia, autosomal dominant","SOST","Craniodiaphyseal dysplasia, autosomal dominant","SOST"]
["Cranioectodermal dysplasia","IFT122,IFT43,WDR19,WDR35","Cranioectodermal dysplasia 1","IFT122"]
[null,null,"Cranioectodermal dysplasia 3","IFT43"]
[null,null,"Cranioectodermal dysplasia 4","WDR19"]
[null,null,"Cranioectodermal dysplasia 2","WDR35"]
["Craniofacial anomalies and anterior segment dysgenesis syndrome","VSX1","Craniofacial anomalies and anterior segment dysgenesis syndrome","VSX1"]
["Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome","TMCO1","Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome","TMCO1"]
["Craniofacial Syndrome due to COPI-Mediated Transport Defects","ARCN1","Craniofacial Syndrome due to COPI-Mediated Transport Defects","ARCN1"]
["Craniofrontonasal dysplasia","EFNB1","Craniofrontonasal dysplasia","EFNB1"]
["Craniolenticulosutural dysplasia","SEC23A","Craniolenticulosutural dysplasia","SEC23A"]
["Craniometaphyseal dysplasia, autosomal recessive","GJA1","Craniometaphyseal dysplasia, autosomal recessive","GJA1"]
["Craniosynostosis","CYP26B1,EFNB1,ERF,FGFR1,FGFR2,FGFR3,FREM1,GLI3,IFT122,IFT43,IL11RA,MEGF8,MSX2,POR,RAB23,RECQL4,SKI,SMAD3,SMAD6,TCF12,TGFB2,TGFB3,TGFBR1,TGFBR2,TWIST1,WDR19,WDR35,ZIC1","Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies","CYP26B1"]
[null,null,"Craniofrontonasal dysplasia","EFNB1"]
[null,null,"Craniosynostosis 4","ERF"]
[null,null,"Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1","FGFR1"]
[null,null,"Apert syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome","FGFR2"]
[null,null,"Muenke syndrome","FGFR3"]
[null,null,"Manitoba oculotrichoanal syndrome / trignocephaly","FREM1"]
[null,null,"Greig cephalopolysyndactyly syndrome","GLI3"]
[null,null,"Cranioectodermal dysplasia 1","IFT122"]
[null,null,"Cranioectodermal dysplasia 3","IFT43"]
[null,null,"Craniosynostosis and dental anomalies","IL11RA"]
[null,null,"Carpenter syndrome 2","MEGF8"]
[null,null,"Craniosynostosis 2","MSX2"]
[null,null,"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","POR"]
[null,null,"Carpenter syndrome","RAB23"]
[null,null,"Rothmund-Thomson syndrome","RECQL4"]
[null,null,"Shprintzen-Goldberg syndrome","SKI"]
[null,null,"Loeys-Dietz syndrome 3","SMAD3"]
[null,null,"Craniosynostosis 7","SMAD6"]
[null,null,"Craniosynostosis 3","TCF12"]
[null,null,"Loeys-Dietz syndrome 4","TGFB2"]
[null,null,"Loeys-Dietz syndrome 5 / Reihoff syndrome","TGFB3"]
[null,null,"Loeys-Dietz syndrome 1","TGFBR1"]
[null,null,"Loeys-Dietz syndrome 2","TGFBR2"]
[null,null,"Craniosynostosis 1","TWIST1"]
[null,null,"Cranioectodermal dysplasia 4","WDR19"]
[null,null,"Cranioectodermal dysplasia 2","WDR35"]
[null,null,"Craniosynostosis 6","ZIC1"]
["Crigler-Najjar syndrome","UGT1A1","Crigler-Najjar syndrome, type I","UGT1A1"]
["Currarino syndrome","MNX1","Currarino syndrome","MNX1"]
["Cushing's disease","USP8","Cushing's disease","USP8"]
["Cutaneous amyloidosis","IL31RA,OSMR","Amyloidosis, primary localized cutaneous, 2","IL31RA"]
[null,null,"Amyloidosis, primary localized cutaneous, 1","OSMR"]
["Cutis laxa","ALDH18A1,ATP6V0A2,ATP6V1A,ATP6V1E1,EFEMP2,ELN,FBLN5,LTBP4,PYCR1","Cutis laxa, autosomal recessive, type IIIA","ALDH18A1"]
[null,null,"Cutis laxa, autosomal recessive, type IIA","ATP6V0A2"]
[null,null,"Cutis laxa, autosomal recessive, type IID","ATP6V1A"]
[null,null,"Cutis laxa, autosomal recessive, type IIC","ATP6V1E1"]
[null,null,"Cutis laxa, autosomal recessive, type IB","EFEMP2"]
[null,null,"Cutis laxa, autosomal dominant","ELN"]
[null,null,"Cutis laxa, autosomal recessive, type IA","FBLN5"]
[null,null,"Cutis laxa, autosomal recessive, type IC","LTBP4"]
[null,null,"Cutis laxa, autosomal recessive, type IIB","PYCR1"]
["Cutis laxa-corneal clouding-oligophrenia syndrome","ALDH18A1","Cutis laxa-corneal clouding-oligophrenia syndrome","ALDH18A1"]
["Cystic fibrosis","CFTR","Cystic fibrosis","CFTR"]
["Cystic kidney disease","BICC1,GANAB,HNF1B,PAX2,PKD1,PKD2,PKHD1,PMM2,UMOD","Renal dysplasia, cystic, susceptibility to","BICC1"]
[null,null,"Polycyctic kidney disease 3","GANAB"]
[null,null,"Renal cysts and diabetes syndrome","HNF1B"]
[null,null,"Renal coloboma syndrome","PAX2"]
[null,null,"Polycystic kidney disease, adult type 1","PKD1"]
[null,null,"Polycystic kidney disease, adult type 2","PKD2"]
[null,null,"Polycystic kidney disease recessive 1","PKHD1"]
[null,null,"Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia","PMM2"]
[null,null,"Medullary cystic kidney disease 2","UMOD"]
["Cystinosis","CTNS","Cystinosis","CTNS"]
["Cystinuria","SLC3A1,SLC7A9","Cystinuria_SLC3A1","SLC3A1"]
[null,null,"Cystinuria_SLC7A9","SLC7A9"]
["D-2-hydroxyglutaric aciduria","D2HGDH,IDH2","D-2-hydroxyglutaric aciduria 1","D2HGDH"]
[null,null,"D-2-hydroxyglutaric aciduria 2","IDH2"]
["D-glyceric aciduria","GLYCTK","D-glyceric aciduria","GLYCTK"]
["Dandy Walker malformation","ZIC1,ZIC4","Dandy Walker malformation_ZIC1","ZIC1"]
[null,null,"Dandy Walker malformation_ZIC4","ZIC4"]
["Darier disease","ATP2A2","Darier disease","ATP2A2"]
["De la Chapelle dysplasia","SLC26A2","De la Chapelle dysplasia","SLC26A2"]
["Deafness and myopia","SLITRK6","Deafness and myopia","SLITRK6"]
["Deafness with microtia and microdontia","FGF3","Deafness with microtia and microdontia","FGF3"]
["deafness-dystonia syndrome","FITM2","deafness-dystonia syndrome","FITM2"]
["Deafness, dystonia, and cerebral hypomyelination","BCAP31","Deafness, dystonia, and cerebral hypomyelination","BCAP31"]
["Dementia","ANG,APOE,APP,CHCHD10,CHMP2B,CST3,FUS,GRN,GSN,ITM2B,MAPT,PSEN1,PSEN2,SNCB,TARDBP,TREM2,TYROBP,VCP","Amyotrophic lateral sclerosis 9","ANG"]
[null,null,"Alzheimer disease-2","APOE"]
[null,null,"Alzheimer disease 1, familial","APP"]
[null,null,"Frontotemporal dementia and/or amyotrophic lateral sclerosis 2","CHCHD10"]
[null,null,"Dementia, familial, nonspecific, Amyotrophic lateral sclerosis 17","CHMP2B"]
[null,null,"Cerebral amyloid angiopathy","CST3"]
[null,null,"Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia","FUS"]
[null,null,"Frontotemporal lobar degeneration with ubiquitin-positive inclusions","GRN"]
[null,null,"Amyloidosis, Finnish type","GSN"]
[null,null,"Dementia, familial British","ITM2B"]
[null,null,"Dementia, frontotemporal, with or without parkinsonism","MAPT"]
[null,null,"Alzheimer disease, type 3","PSEN1"]
[null,null,"Alzheimer disease-4","PSEN2"]
[null,null,"Dementia, Lewy body","SNCB"]
[null,null,"Amyotrophic lateral sclerosis 10, with or without FTD","TARDBP"]
[null,null,"Nasu-Hakola disease 1","TREM2"]
[null,null,"Nasu-Hakola disease 2","TYROBP"]
[null,null,"Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia","VCP"]
["Dementia, Lewy body","SNCB","Dementia, Lewy body","SNCB"]
["Dent syndrome","CLCN5,OCRL","Dent syndrome","CLCN5"]
[null,null,"Dent syndrome 2","OCRL"]
["Dentin dysplasia","DSPP,SMOC2,SSUH2","Dentin dysplasia, type II","DSPP"]
[null,null,"Dentin dysplasia, type I, with microdontia and misshapen teeth","SMOC2"]
[null,null,"DENTIN DYSPLASIA","SSUH2"]
["Dermal dysplasia","CYP26C1,TWIST2","Focal facial dermal dysplasia 4","CYP26C1"]
[null,null,"Focal facial dermal dysplasia 3, Setleis type","TWIST2"]
["Desanto-Shinawi syndrome","WAC","Desanto-Shinawi syndrome","WAC"]
["Desbuquois dysplasia","CANT1,XYLT1","Desbuquois dysplasia 1","CANT1"]
[null,null,"Desbuquois dysplasia 2","XYLT1"]
["Desmosterolosis","DHCR24","Desmosterolosis","DHCR24"]
["Developmental delay with short stature, dysmorphic features, and sparse hair","DPH1","Developmental delay with short stature, dysmorphic features, and sparse hair","DPH1"]
["developmental delay, midface hypoplasia and elliptocytosis","AMMECR1","developmental delay, midface hypoplasia and elliptocytosis","AMMECR1"]
["Developmental eye panel","ABCB6,ALDH1A3,BCOR,BMP4,C12orf57,CHD7,CYP1B1,FOXC1,GDF3,GDF6,HCCS,HMGB3,MAB21L2,MAF,MFRP,NAA10,OTX2,PAX2,PAX6,PITX2,PRSS56,RARB,RAX,RBP4,RS1,SALL2,SEMA3E,SHH,SIX6,SMCHD1,SOX2,STRA6,TENM3,TFAP2A,VAX1,VSX2,YAP1","Microphthalmia, isolated, with coloboma 7","ABCB6"]
[null,null,"Microphthalmia, isolated 8","ALDH1A3"]
[null,null,"Microphthalmia, syndromic 2","BCOR"]
[null,null,"Microphthalmia, syndromic 6","BMP4"]
[null,null,"Temtamy syndrome","C12orf57"]
[null,null,"CHARGE syndrome 1","CHD7"]
[null,null,"Peters anomaly_CYP1B1","CYP1B1"]
[null,null,"Axenfeld-Rieger syndrome, type 3","FOXC1"]
[null,null,"Microphthalmia with coloboma 6","GDF3"]
[null,null,"Microphthalmia, isolated 4","GDF6"]
[null,null,"Microphthalmia, syndromic 7 / Linear skin defects","HCCS"]
[null,null,"Microphthalmia, syndromic 13","HMGB3"]
[null,null,"Microphthalmia, syndromic 14","MAB21L2"]
[null,null,"Ayme-Gripp syndrome","MAF"]
[null,null,"Microphthalmia, isolated 5","MFRP"]
[null,null,"Microphthalmia, syndromic 1","NAA10"]
[null,null,"Microphthalmia, syndromic 5","OTX2"]
[null,null,"Renal coloboma syndrome","PAX2"]
[null,null,"Peters anomaly_PAX6","PAX6"]
[null,null,"Axenfeld-Rieger syndrome, type 1","PITX2"]
[null,null,"Microphthalmia, isolated 6","PRSS56"]
[null,null,"Microphthalmia, syndromic 12","RARB"]
[null,null,"Microphthalmia, isolated 3","RAX"]
[null,null,"Microphthalmia, isolated, with coloboma 10","RBP4"]
[null,null,"Retinoschisis","RS1"]
[null,null,"Coloboma, ocular, autosomal recessive","SALL2"]
[null,null,"CHARGE syndrome 2","SEMA3E"]
[null,null,"Microphthalmia with coloboma 5","SHH"]
[null,null,"Microphthalmia with cataract 2","SIX6"]
[null,null,"Arhinia microphthalmia","SMCHD1"]
[null,null,"Microphthalmia, syndromic 3","SOX2"]
[null,null,"Microphthalmia, isolated, with coloboma 8","STRA6"]
[null,null,"Microphthalmia with coloboma 9","TENM3"]
[null,null,"Branchiooculofacial syndrome","TFAP2A"]
[null,null,"Microphthalmia, syndromic 11","VAX1"]
[null,null,"Microphthalmia with coloboma 3","VSX2"]
[null,null,"Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation","YAP1"]
["Diabetes","ABCC8,APPL1,AVP,BLK,CEL,GCK,GLIS3,HNF1A,HNF1B,HNF4A,INS,INSR,KCNJ11,KLF11,NEUROD1,PAX4,PDX1,PLAGL1,PPARG,PPP1R3A,RFX6,ZFP57","Diabetes mellitus, transient neonatal, 2","ABCC8"]
[null,null,"Maturity-onset diabetes of the young, type 14","APPL1"]
[null,null,"Diabetes insipidus, neurohypophyseal","AVP"]
[null,null,"Maturity-onset diabetes of the young, type XI","BLK"]
[null,null,"Maturity-onset diabetes of the young, type VIII","CEL"]
[null,null,"Maturity-onset diabetes of the young, type II","GCK"]
[null,null,"Diabetes mellitus, neonatal, with congenital hypothyroidism","GLIS3"]
[null,null,"Maturity-onset diabetes of the young, type III","HNF1A"]
[null,null,"Maturity-onset diabetes of the young","HNF1B"]
[null,null,"Maturity-onset diabetes of the young, type I","HNF4A"]
[null,null,"Maturity-onset diabetes of the young, type X","INS"]
[null,null,"Diabetes mellitus, insulin-resistant, with acanthosis nigricans","INSR"]
[null,null,"Maturity-onset diabetes of the young, type XIII","KCNJ11"]
[null,null,"Maturity-onset diabetes of the young, type VII","KLF11"]
[null,null,"Maturity-onset diabetes of the young, type VI","NEUROD1"]
[null,null,"Maturity-onset diabetes of the young, type IX","PAX4"]
[null,null,"Maturity-onset diabetes of the young, type IV","PDX1"]
[null,null,"Diabetes mellitus, transient neonatal","PLAGL1"]
[null,null,"Insulin resistance, severe, digenic A","PPARG"]
[null,null,"Insulin resistance, severe, digenic B","PPP1R3A"]
[null,null,"Maturity-onset diabetes of the young_RFX6","RFX6"]
[null,null,"Diabetes mellitus, transient neonatal, 1","ZFP57"]
["Diabetes mellitus, permanent neonatal, with cerebellar agenesis","PTF1A","Diabetes mellitus, permanent neonatal, with cerebellar agenesis","PTF1A"]
["Diabetes mellitus, transient neonatal","ABCC8,KCNJ11,PLAGL1,ZFP57","Diabetes mellitus, transient neonatal, 2","ABCC8"]
[null,null,"Diabetes mellitus, transient neonatal, 3","KCNJ11"]
[null,null,"Diabetes mellitus, transient neonatal","PLAGL1"]
[null,null,"Diabetes mellitus, transient neonatal, 1","ZFP57"]
["Diamond Blackfan Anemia","EPO,GATA1,RPL11,RPL15,RPL26,RPL27,RPL35A,RPL36,RPL5,RPS10,RPS15,RPS17,RPS19,RPS24,RPS26,RPS27,RPS27A,RPS28,RPS29,RPS7,TSR2","Diamond-Blackfan anemia-like","EPO"]
[null,null,"Anemia, X-linked, with/without neutropenia and/or platelet abnormalities","GATA1"]
[null,null,"Diamond-Blackfan anemia 7","RPL11"]
[null,null,"Diamond-Blackfan anemia 12","RPL15"]
[null,null,"Diamond-Blackfan anemia 11","RPL26"]
[null,null,"Diamond-Blackfan anemia 16","RPL27"]
[null,null,"Diamond-Blackfan anemia 5","RPL35A"]
[null,null,"Diamond-Blackfan anemia candidate_RPL36","RPL36"]
[null,null,"Diamond-Blackfan anemia 6","RPL5"]
[null,null,"Diamond-Blackfan anemia 9","RPS10"]
[null,null,"Diamond-Blackfan anemia candidate_RPS15","RPS15"]
[null,null,"Diamond-Blackfan anemia 4","RPS17"]
[null,null,"Diamond-Blackfan anemia 1","RPS19"]
[null,null,"Diamond-blackfan anemia 3","RPS24"]
[null,null,"Diamond-Blackfan anemia 10","RPS26"]
[null,null,"Diamond-Blackfan anemia 17","RPS27"]
[null,null,"Diamond-Blackfan anemia candidate_RPS27A","RPS27A"]
[null,null,"Diamond Blackfan anemia 15 with mandibulofacial dysostosis","RPS28"]
[null,null,"Diamond-Blackfan anemia 13","RPS29"]
[null,null,"Diamond-Blackfan anemia 8","RPS7"]
[null,null,"Diamond-Blackfan anemia 14 with mandibulofacial dysostosis","TSR2"]
["Diaphanospondylodysostosis","BMPER","Diaphanospondylodysostosis","BMPER"]
["Diaphyseal medullary stenosis with malignant fibrous histiocytoma","MTAP","Diaphyseal medullary stenosis with malignant fibrous histiocytoma","MTAP"]
["Diarrhea","DGAT1,EPCAM,GUCY2C,MYO5B,NEUROG3,SLC26A3,SLC9A3,SPINT2","Diarrhea 7","DGAT1"]
[null,null,"Diarrhea 5, with tufting enteropathy, congenital","EPCAM"]
[null,null,"Diarrhea 6","GUCY2C"]
[null,null,"Microvillus inclusion disease","MYO5B"]
[null,null,"Diarrhea 4, malabsorptive, congenital","NEUROG3"]
[null,null,"Diarrhea 1, secretory chloride, congenital /Chloride diarrhea, congenital, Finnish type","SLC26A3"]
[null,null,"Diarrhea 8, secretory sodium, congenital","SLC9A3"]
[null,null,"Diarrhea 3, secretory sodium, congenital, syndromic","SPINT2"]
["Dias-Logan syndrome","BCL11A","Dias-Logan syndrome","BCL11A"]
["Diastrophic dysplasia","SLC26A2","Diastrophic dysplasia","SLC26A2"]
["Dicarboxylic aminoaciduria","SLC1A1","Dicarboxylic aminoaciduria","SLC1A1"]
["Dienoyl-CoA reductase deficiency","DECR1","Dienoyl-CoA reductase deficiency","DECR1"]
["Dihydropyrimidine dehydrogenase deficiency","DPYD","Dihydropyrimidine dehydrogenase deficiency","DPYD"]
["Dimethylglycine dehydrogenase deficiency","DMGDH","Dimethylglycine dehydrogenase deficiency","DMGDH"]
["Disorders of sex development","AKR1C2,AMH,AMHR2,AR,ATRX,BMPR1B,CBX2,CDKN1C,CHD7,CYP11A1,CYP11B1,CYP17A1,CYP19A1,DHCR24,DHCR7,DHH,DMRT1,EMX2,FGF9,FRAS1,FREM2,GATA4,GPR64,GRIP1,HSD17B3,HSD3B2,INSL3,KAL1,LHCGR,MAMLD1,MAP3K1,NR0B1,NR2F2,NR5A1,POR,RSPO1,RXFP2,SEMA3E,SOX9,SPIDR,SRD5A2,SRY,STAR,TSPYL1,WNT4,WT1,ZFPM2","46XY sex reversal 8","AKR1C2"]
[null,null,"Persisten mullerian duct syndrome, type I","AMH"]
[null,null,"Persisten mullerian duct syndrome, type II","AMHR2"]
[null,null,"Androgen insensitivity","AR"]
[null,null,"Alpha-thalassemia/mental retardation syndrome","ATRX"]
[null,null,"Acromesomelic dysplasia, Demirhan type","BMPR1B"]
[null,null,"46XY sex reversal 5","CBX2"]
[null,null,"IMAGE syndrome","CDKN1C"]
[null,null,"CHARGE syndrome 1","CHD7"]
[null,null,"Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete","CYP11A1"]
[null,null,"Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency","CYP11B1"]
[null,null,"17-alpha-hydroxylase/17,20-lyase deficiency","CYP17A1"]
[null,null,"Aromatase deficiency","CYP19A1"]
[null,null,"Desmosterolosis","DHCR24"]
[null,null,"Smith Lemli Opitz syndrome","DHCR7"]
[null,null,"46XY sex reversal 7","DHH"]
[null,null,"46XY ovotesticular DSD","DMRT1"]
[null,null,"Disorders of sex development_EMX2","EMX2"]
[null,null,"Disorders of sex development_FGF9","FGF9"]
[null,null,"Fraser syndrome 1","FRAS1"]
[null,null,"Fraser syndrome 2","FREM2"]
[null,null,"Testicular anomalies with or without congenital heart disease","GATA4"]
[null,null,"X-Linked congenital bilateral absence of Vas Deferens","GPR64"]
[null,null,"Fraser syndrome 3","GRIP1"]
[null,null,"Pseudohermaphroditism, male, with gynecomastia","HSD17B3"]
[null,null,"3-beta-hydroxysteroid dehydrogenase, type II, deficiency","HSD3B2"]
[null,null,"Cryptorchidism_INSL3","INSL3"]
[null,null,"Kallmann syndrome 1","KAL1"]
[null,null,"Leydig cell hypoplasia with pseudohermaphroditism","LHCGR"]
[null,null,"Hypospadias 2, X-linked","MAMLD1"]
[null,null,"46XY sex reversal 6","MAP3K1"]
[null,null,"46XY sex reversal 2, dosage-sensitive","NR0B1"]
[null,null,"Testis development and cardiac defects","NR2F2"]
[null,null,"46XY sex reversal 3","NR5A1"]
[null,null,"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","POR"]
[null,null,"Palmoplantar hyperkeratosis and true hermaphroditism","RSPO1"]
[null,null,"Cryptorchidism_RXFP2","RXFP2"]
[null,null,"CHARGE syndrome 2","SEMA3E"]
[null,null,"Campomelic dysplasia with autosomal sex reversal","SOX9"]
[null,null,"GONADAL DYSGENESIS","SPIDR"]
[null,null,"Pseudovaginal perineoscrotal hypospadias","SRD5A2"]
[null,null,"46XX sex reversal 1","SRY"]
[null,null,"Lipoid adrenal hyperplasia","STAR"]
[null,null,"Sudden infant death with dysgenesis of the testes syndrome","TSPYL1"]
[null,null,"Mullerian aplasia and hyperandrogenism","WNT4"]
[null,null,"Denys-Drash syndrome","WT1"]
[null,null,"46XY sex reversal 9","ZFPM2"]
["Disorders of sex development, expanded panel","AKR1C2,AMH,AMHR2,AR,ARX,ATRX,B3GALTL,BCOR,BMP4,BMPR1B,CBX2,CDKN1C,CEP41,CHD7,CREBBP,CYB5A,CYP11A1,CYP11B1,CYP17A1,CYP19A1,DHCR24,DHCR7,DHH,DMRT1,DNMT3B,DYNC2H1,EMX2,ESCO2,FAM58A,FAT4,FEZF1,FGF9,FIG4,FRAS1,FREM2,GATA4,GPR64,GRIP1,HCCS,HSD17B3,HSD3B2,ICK,IL17RD,INSL3,IRF6,KAL1,KISS1R,LHCGR,LMNA,MAMLD1,MAP3K1,MKKS,MKS1,NEK1,NR0B1,NR2F2,NR5A1,NSMF,OPHN1,POR,PTPN11,RIPK4,ROR2,RSPO1,RXFP2,SALL1,SCARF2,SEMA3A,SEMA3E,SETBP1,SOX9,SPECC1L,SPIDR,SRD5A2,SRY,STAR,TBX15,TCTN3,TSPYL1,UBR1,WDR60,WNT4,WNT7A,WT1,ZFPM2","46XY sex reversal 8","AKR1C2"]
[null,null,"Persisten mullerian duct syndrome, type I","AMH"]
[null,null,"Persisten mullerian duct syndrome, type II","AMHR2"]
[null,null,"Androgen insensitivity","AR"]
[null,null,"Hydranencephaly with abnormal genitalia","ARX"]
[null,null,"Alpha-thalassemia/mental retardation syndrome","ATRX"]
[null,null,"Peters-plus syndrome","B3GALTL"]
[null,null,"Microphthalmia, syndromic 2","BCOR"]
[null,null,"Microphthalmia, syndromic 6","BMP4"]
[null,null,"Acromesomelic dysplasia, Demirhan type","BMPR1B"]
[null,null,"46XY sex reversal 5","CBX2"]
[null,null,"IMAGE syndrome","CDKN1C"]
[null,null,"Joubert syndrome 15","CEP41"]
[null,null,"CHARGE syndrome 1","CHD7"]
[null,null,"Rubinstein-Taybi syndrome 1","CREBBP"]
[null,null,"Methemoglobinemia, type IV","CYB5A"]
[null,null,"Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete","CYP11A1"]
[null,null,"Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency","CYP11B1"]
[null,null,"17-alpha-hydroxylase/17,20-lyase deficiency","CYP17A1"]
[null,null,"Aromatase deficiency","CYP19A1"]
[null,null,"Desmosterolosis","DHCR24"]
[null,null,"Smith Lemli Opitz syndrome","DHCR7"]
[null,null,"46XY sex reversal 7","DHH"]
[null,null,"46XY ovotesticular DSD","DMRT1"]
[null,null,"Immunodeficiency-centromeric instability-facial anomalies syndrome 1","DNMT3B"]
[null,null,"Short rib-polydactyly syndrome, type 3","DYNC2H1"]
[null,null,"Disorders of sex development_EMX2","EMX2"]
[null,null,"Roberts Syndrome","ESCO2"]
[null,null,"STAR syndrome","FAM58A"]
[null,null,"Van Maldergem syndrome 2","FAT4"]
[null,null,"Hypogonadotropic hypogonadism 22 with or without anosmia","FEZF1"]
[null,null,"Disorders of sex development_FGF9","FGF9"]
[null,null,"Charcot-Marie-Tooth disease, type 4J","FIG4"]
[null,null,"Fraser syndrome 1","FRAS1"]
[null,null,"Fraser syndrome 2","FREM2"]
[null,null,"Testicular anomalies with or without congenital heart disease","GATA4"]
[null,null,"X-Linked congenital bilateral absence of Vas Deferens","GPR64"]
[null,null,"Fraser syndrome 3","GRIP1"]
[null,null,"Linear skin defects with multiple congenital anomalies 1","HCCS"]
[null,null,"Pseudohermaphroditism, male, with gynecomastia","HSD17B3"]
[null,null,"3-beta-hydroxysteroid dehydrogenase, type II, deficiency","HSD3B2"]
[null,null,"Endocrine-cerebroosteodysplasia","ICK"]
[null,null,"Hypogonadotropic hypogonadism 18 with or without anosmia","IL17RD"]
[null,null,"Cryptorchidism_INSL3","INSL3"]
[null,null,"Van der Woude syndrome","IRF6"]
[null,null,"Kallmann syndrome 1","KAL1"]
[null,null,"Hypogonadotropic hypogonadism 8 with or without anosmia","KISS1R"]
[null,null,"Leydig cell hypoplasia with pseudohermaphroditism","LHCGR"]
[null,null,"Mandibuloacral dysplasia","LMNA"]
[null,null,"Hypospadias 2, X-linked","MAMLD1"]
[null,null,"46XY sex reversal 6","MAP3K1"]
[null,null,"Bardet-Biedl syndrome 6","MKKS"]
[null,null,"Bardet-Biedl syndrome 13","MKS1"]
[null,null,"Short rib-polydactyly syndrome, type 2A","NEK1"]
[null,null,"46XY sex reversal 2, dosage-sensitive","NR0B1"]
[null,null,"Testis development and cardiac defects","NR2F2"]
[null,null,"46XY sex reversal 3","NR5A1"]
[null,null,"Hypogonadotropic hypogonadism 9 with or without anosmia","NSMF"]
[null,null,"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance","OPHN1"]
[null,null,"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","POR"]
[null,null,"Noonan syndrome 1","PTPN11"]
[null,null,"CHAND syndrome","RIPK4"]
[null,null,"Robinow syndrome, autosomal recessive","ROR2"]
[null,null,"Palmoplantar hyperkeratosis and true hermaphroditism","RSPO1"]
[null,null,"Cryptorchidism_RXFP2","RXFP2"]
[null,null,"Townes-Brocks syndrome 1","SALL1"]
[null,null,"Van den Ende-Gupta syndrome","SCARF2"]
[null,null,"Hypogonadotropic hypogonadism 16 with or without anosmia","SEMA3A"]
[null,null,"CHARGE syndrome 2","SEMA3E"]
[null,null,"Schinzel-Giedion midface retraction syndrome","SETBP1"]
[null,null,"Campomelic dysplasia with autosomal sex reversal","SOX9"]
[null,null,"Facial clefting, oblique, 1","SPECC1L"]
[null,null,"GONADAL DYSGENESIS","SPIDR"]
[null,null,"Pseudovaginal perineoscrotal hypospadias","SRD5A2"]
[null,null,"46XX sex reversal 1","SRY"]
[null,null,"Lipoid adrenal hyperplasia","STAR"]
[null,null,"Cousin syndrome","TBX15"]
[null,null,"Orofaciodigital syndrome IV","TCTN3"]
[null,null,"Sudden infant death with dysgenesis of the testes syndrome","TSPYL1"]
[null,null,"Johanson-Blizzard syndrome","UBR1"]
[null,null,"Short-rib thoracic dysplasia 8 with or without polydactyly","WDR60"]
[null,null,"Mullerian aplasia and hyperandrogenism","WNT4"]
[null,null,"Fuhrmann syndrome","WNT7A"]
[null,null,"Denys-Drash syndrome","WT1"]
[null,null,"46XY sex reversal 9","ZFPM2"]
["Distal myopathy","ADSSL1,ANO5,CAV3,DNAJB6,DYSF,FLNC,HSPB8,MATR3,MYH7,TIA1,TTN","Myopathy, distal, 5","ADSSL1"]
[null,null,"Myoshi myopathy 3","ANO5"]
[null,null,"Myopathy, distal, Tateyama type","CAV3"]
[null,null,"Distal myopathy_DNAJB6","DNAJB6"]
[null,null,"Myopathy, distal, with anterior tibial onset (Myoshi)","DYSF"]
[null,null,"Myopathy, distal, 4","FLNC"]
[null,null,"Distal myopathy and motor neuropathy","HSPB8"]
[null,null,"Distal myopathy_MATR3","MATR3"]
[null,null,"Myopathy, distal, 1 (LAING)","MYH7"]
[null,null,"Welander distal myopathy","TIA1"]
[null,null,"Tibial muscular dystrophy, tardive","TTN"]
["DNA breakage syndromes","ACD,ATR,BLM,BRCA1,BRCA2,BRIP1,CENPJ,CEP152,CEP63,CTC1,DCLRE1B,DCLRE1C,DDB2,DDX11,DKC1,DNA2,DNAJC21,ERCC1,ERCC2,ERCC3,ERCC4,ERCC5,ERCC6,ERCC8,ESCO2,FANCA,FANCB,FANCC,FANCD2,FANCE,FANCF,FANCG,FANCI,FANCL,FANCM,LIG1,LIG4,MAD2L2,NBN,NHP2,NIN,NOP10,NSMCE2,OBFC1,PALB2,PARN,POLH,RAD50,RAD51,RAD51C,RAG1,RAG2,RBBP8,RECQL4,RTEL1,SBDS,SLX4,TERC,TERT,TINF2,TRAIP,UBE2T,USB1,WRAP53,WRN,XPA,XPC,XRCC2","Dyskeratosis congenita, autosomal recessive 7, autosomal dominant 6","ACD"]
[null,null,"Seckel syndrome 1","ATR"]
[null,null,"Bloom syndrome","BLM"]
[null,null,"Fanconi anemia, complementation group S","BRCA1"]
[null,null,"Fanconi anemia, complementation group D1","BRCA2"]
[null,null,"Fanconi anemia, complementation group J","BRIP1"]
[null,null,"Seckel syndrome 4","CENPJ"]
[null,null,"Seckel syndrome 5","CEP152"]
[null,null,"Seckel syndrome 6","CEP63"]
[null,null,"Cerebroretinal microangiopathy with calcifications and cysts 1","CTC1"]
[null,null,"Dyskeratosis congenita like_DCLRE1B","DCLRE1B"]
[null,null,"OMENN Syndrome 1","DCLRE1C"]
[null,null,"Xeroderma pigmentosum, group E, DDB-negative subtype","DDB2"]
[null,null,"Warsaw Breakage Syndrome","DDX11"]
[null,null,"Dyskeratosis congenita, X-linked","DKC1"]
[null,null,"Seckel syndrome 8","DNA2"]
[null,null,"Schwachman Diamond syndrome 2","DNAJC21"]
[null,null,"Cerebrooculofacioskeletal syndrome 4","ERCC1"]
[null,null,"Xeroderma pigmentosum, group D","ERCC2"]
[null,null,"Xeroderma pigmentosum, group B","ERCC3"]
[null,null,"Fanconi anemia, complementation group Q","ERCC4"]
[null,null,"Xeroderma pigmentosum, group G","ERCC5"]
[null,null,"Cockayne syndrome, type B","ERCC6"]
[null,null,"Cockayne syndrome, type A","ERCC8"]
[null,null,"Roberts Syndrome","ESCO2"]
[null,null,"Fanconi anemia, complementation group A","FANCA"]
[null,null,"Fanconi anemia, complementation group B","FANCB"]
[null,null,"Fanconi anemia, complementation group C","FANCC"]
[null,null,"Fanconi anemia, complementation group D2","FANCD2"]
[null,null,"Fanconi anemia, complementation group E","FANCE"]
[null,null,"Fanconi anemia, complementation group F","FANCF"]
[null,null,"Fanconi anemia, complementation group G","FANCG"]
[null,null,"Fanconi anemia, complementation group I","FANCI"]
[null,null,"Fanconi anemia, complementation group L","FANCL"]
[null,null,"Fanconi anemia, complementation group M","FANCM"]
[null,null,"DNA ligase I deficiency","LIG1"]
[null,null,"LIG4 syndrome","LIG4"]
[null,null,"Fanconi anemia, complementation group V","MAD2L2"]
[null,null,"Nijmegen breakage syndrome","NBN"]
[null,null,"Dyskeratosis congenita, autosomal recessive 2","NHP2"]
[null,null,"Seckel syndrome 7","NIN"]
[null,null,"Dyskeratosis congenita, autosomal recessive 1","NOP10"]
[null,null,"Seckel syndrome 10","NSMCE2"]
[null,null,"Cerebroretinal microangiopathy with calcifications and cysts 2","OBFC1"]
[null,null,"Fanconi anemia, complementation group N","PALB2"]
[null,null,"Dyskeratosis congenita, autosomal recessive 6","PARN"]
[null,null,"Xeroderma pigmentosum, variant type","POLH"]
[null,null,"Nijmegen Breakage-Like syndrome","RAD50"]
[null,null,"Fanconi anemia, complementation group R","RAD51"]
[null,null,"Fanconi anemia, complementation group O","RAD51C"]
[null,null,"OMENN Syndrome 2","RAG1"]
[null,null,"OMENN Syndrome 3","RAG2"]
[null,null,"Seckel syndrome 2","RBBP8"]
[null,null,"Rothmund-Thomson syndrome","RECQL4"]
[null,null,"Dyskeratosis congenita, autosomal recessive 5, autosomal dominant 4","RTEL1"]
[null,null,"Schwachman Diamond syndrome 1","SBDS"]
[null,null,"Fanconi anemia, complementation group P","SLX4"]
[null,null,"Dyskeratosis congenita, autosomal dominant 1","TERC"]
[null,null,"Dyskeratosis congenita, autosomal recessive 4, autosomal dominant 2","TERT"]
[null,null,"Dyskeratosis congenita, autosomal dominant 3","TINF2"]
[null,null,"Seckel syndrome 9","TRAIP"]
[null,null,"Fanconi anemia, complementation group T","UBE2T"]
[null,null,"Dyskeratosis congenita like_USB1","USB1"]
[null,null,"Dyskeratosis congenita, autosomal recessive 3","WRAP53"]
[null,null,"Werner syndrome","WRN"]
[null,null,"Xeroderma pigmentosum, group A","XPA"]
[null,null,"Xeroderma pigmentosum, group C","XPC"]
[null,null,"Fanconi anemia, complementation group U","XRCC2"]
[]
["DNA ligase deficiency","LIG1,LIG4","DNA ligase I deficiency","LIG1"]
[null,null,"LIG4 syndrome","LIG4"]
["Donahue syndrome / Leprechaunism","INSR","Donahue syndrome / Leprechaunism","INSR"]
["Donnai-Barrow syndrome","LRP2","Donnai-Barrow syndrome","LRP2"]
["DOOR syndrome","TBC1D24","DOOR syndrome","TBC1D24"]
["Dopamine beta-hydroxylase deficiency","DBH","Dopamine beta-hydroxylase deficiency","DBH"]
["Dowling-Degos disease associated with acne inversa.","PSENEN","Dowling-Degos disease associated with acne inversa.","PSENEN"]
["Duane retraction syndrome","CHN1,MAFB","Duane syndrome type 2","CHN1"]
[null,null,"Duane syndrome type 3","MAFB"]
["Duane-radial ray syndrome / IVIC SNDROME","SALL4","Duane-radial ray syndrome / IVIC SNDROME","SALL4"]
["Dubin-Johnson syndrome","ABCC2","Dubin-Johnson syndrome","ABCC2"]
["Duchenne/Becker","DMD","Duchenne/Becker","DMD"]
["Dursun syndrome","G6PC3","Dursun syndrome","G6PC3"]
["Dyggve-Melchior-Clausen syndrome","DYM","Dyggve-Melchior-Clausen syndrome","DYM"]
["Dyskeratosis congenita","ACD,CTC1,DCLRE1B,DKC1,NHP2,NOP10,OBFC1,PARN,RTEL1,TERC,TERT,TINF2,USB1,WRAP53","Dyskeratosis congenita, autosomal recessive 7, autosomal dominant 6","ACD"]
[null,null,"Cerebroretinal microangiopathy with calcifications and cysts 1","CTC1"]
[null,null,"Dyskeratosis congenita like_DCLRE1B","DCLRE1B"]
[null,null,"Dyskeratosis congenita, X-linked","DKC1"]
[null,null,"Dyskeratosis congenita, autosomal recessive 2","NHP2"]
[null,null,"Dyskeratosis congenita, autosomal recessive 1","NOP10"]
[null,null,"Cerebroretinal microangiopathy with calcifications and cysts 2","OBFC1"]
[null,null,"Dyskeratosis congenita, autosomal recessive 6","PARN"]
[null,null,"Dyskeratosis congenita, autosomal recessive 5, autosomal dominant 4","RTEL1"]
[null,null,"Dyskeratosis congenita, autosomal dominant 1","TERC"]
[null,null,"Dyskeratosis congenita, autosomal recessive 4, autosomal dominant 2","TERT"]
[null,null,"Dyskeratosis congenita, autosomal dominant 3","TINF2"]
[null,null,"Dyskeratosis congenita like_USB1","USB1"]
[null,null,"Dyskeratosis congenita, autosomal recessive 3","WRAP53"]
["Dyskinesia","ADCY5,KCNA1,KCNMA1,PDE10A,PNKD,PRRT2,SLC2A1,TRAPPC11","Dyskinesia, familial, with facial myokymia","ADCY5"]
[null,null,"Paroxysmal kinesigenic dyskinesia_KCNA1","KCNA1"]
[null,null,"Generalized epilepsy and paroxysmal dyskinesia","KCNMA1"]
[null,null,"Dyskinesia, limb and orofacial, infantile-onset","PDE10A"]
[null,null,"Paroxysmal nonkinesigenic dyskinesia","PNKD"]
[null,null,"Episodic kinesigenic dyskinesia 1","PRRT2"]
[null,null,"Glucose transporter 1 deficiency syndrome","SLC2A1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2S (with dyskinesia)","TRAPPC11"]
["Dyssegmental dysplasia, Silverman-Handmaker type","HSPG2","Dyssegmental dysplasia, Silverman-Handmaker type","HSPG2"]
["Dystonia","ACTB,ANO3,ATP1A3,BCAP31,CACNA1B,CIZ1,COL6A3,DNAJC12,FITM2,GCH1,GNAL,HPCA,KCTD17,KMT2B,MECR,PNKD,PRKRA,PRRT2,SGCE,SLC2A1,SLC30A10,SLC39A14,SPR,TAF1,TH,THAP1,TOR1A,TUBB4A","Dystonia, juvenile-onset","ACTB"]
[null,null,"Dystonia 24","ANO3"]
[null,null,"Dystonia 12 / Rapid onset dystonia Parkinsonism","ATP1A3"]
[null,null,"Deafness, dystonia, and cerebral hypomyelination","BCAP31"]
[null,null,"Dystonia 23","CACNA1B"]
[null,null,"Dystonia 23-candidate","CIZ1"]
[null,null,"Dystonia 27","COL6A3"]
[null,null,"Hyperphenylalaninemia, Dystonia, and Intellectual Disability.","DNAJC12"]
[null,null,"deafness-dystonia syndrome","FITM2"]
[null,null,"Dystonia 5, Dopa responsive dystonia","GCH1"]
[null,null,"Dystonia 25","GNAL"]
[null,null,"Dystonia 2, Torsion, Autosomal Recessive; ","HPCA"]
[null,null,"Dystonia 26, myoclonic","KCTD17"]
[null,null,"Early-Onset Generalized Dystonia","KMT2B"]
[null,null,"Childhood-Onset Dystonia and Optic Atrophy","MECR"]
[null,null,"Dystonia 8, Paroxysmal nonkinesigenic dyskinesia","PNKD"]
[null,null,"Dystonia 16","PRKRA"]
[null,null,"Dystonia 10","PRRT2"]
[null,null,"Dystonia 11, Myoclonus dystonia","SGCE"]
[null,null,"Dystonia 9, ","SLC2A1"]
[null,null,"Hypermanganesemia with dystonia 1","SLC30A10"]
[null,null,"Hypermanganesemia with dystonia 2","SLC39A14"]
[null,null,"Dystonia, dopa-responsive, due to sepiapterin reductase deficiency","SPR"]
[null,null,"Dystonia-Parkinsonism, X-linked","TAF1"]
[null,null,"Segawa syndrome, recessive","TH"]
[null,null,"Dystonia 6","THAP1"]
[null,null,"Dystonia 1, torsion","TOR1A"]
[null,null,"Dystonia 4, torsion, autosomal dominant","TUBB4A"]
["Eagle Barrett syndrome/ Prune Belly","CHRM3","Eagle Barrett syndrome/ Prune Belly","CHRM3"]
["Early infantile epilepsy with encephalopathy","AARS,ADAM22,ALG13,AP3B2,ARHGEF9,ARV1,ARX,ATP6V1A,CACNA1A,CDKL5,CNPY3,DENND5A,DNM1,DNM1L,DNMT3A,DOCK7,EEF1A2,FGF12,FRRS1L,GABBR2,GABRA1,GABRB1,GABRB3,GNAO1,GRIN2A,GRIN2B,GRIN2D,GUF1,HCN1,HNRNPU,ITPA,KCNA2,KCNB1,KCNQ2,KCNT1,MAGI2,MECP2,MFF,NECAP1,NTRK2,PCDH19,PGAP1,PLCB1,PNKP,PPP3CA,PROSC,SCN1A,SCN1B,SCN2A,SCN3A,SCN8A,SERPINI1,SIK1,SLC12A5,SLC13A5,SLC1A2,SLC25A12,SLC25A22,SNAP25,SPTAN1,ST3GAL3,STXBP1,SV2A,SYNJ1,SZT2,TBC1D24,TBCD,TBCE,UBA5,WWOX","Epileptic encephalopathy, early infantile, 29","AARS"]
[null,null,"Epileptic encephalopathy, early infantile, 61","ADAM22"]
[null,null,"Epileptic encephalopathy, early infantile, 36","ALG13"]
[null,null,"Epileptic encephalopathy, early infantile, 48","AP3B2"]
[null,null,"Epileptic encephalopathy, early infantile, 8","ARHGEF9"]
[null,null,"Epileptic encephalopathy, early infantile, 38","ARV1"]
[null,null,"Epileptic encephalopathy, early infantile, 1","ARX"]
[null,null,"Epileptic encephalopathy, early infantile or early childhood 3","ATP6V1A"]
[null,null,"Epileptic encephalopathy, early infantile, 42","CACNA1A"]
[null,null,"Epileptic encephalopathy, early infantile, 2","CDKL5"]
[null,null,"Epileptic encephalopathy, early infantile, 60","CNPY3"]
[null,null,"Epileptic encephalopathy, early infantile, 49","DENND5A"]
[null,null,"Epileptic encephalopathy, early infantile, 31","DNM1"]
[null,null,"Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1","DNM1L"]
[null,null,"Epileptic encephalopathy_DNMT3A","DNMT3A"]
[null,null,"Epileptic encephalopathy, early infantile, 23 with cortical blindness","DOCK7"]
[null,null,"Epileptic encephalopathy, early infantile, 33","EEF1A2"]
[null,null,"Epileptic encephalopathy, early infantile, 47","FGF12"]
[null,null,"Epileptic encephalopathy, early infantile, 37","FRRS1L"]
[null,null,"Epileptic encephalopathy, early infantile, 59","GABBR2"]
[null,null,"Epileptic encephalopathy, early infantile, 19","GABRA1"]
[null,null,"Epileptic encephalopathy, early infantile, 45","GABRB1"]
[null,null,"Epileptic encephalopathy, early infantile, 43","GABRB3"]
[null,null,"Epileptic encephalopathy, early infantile, 17","GNAO1"]
[null,null,"Early infantile epilepsy with encephalopathy","GRIN2A"]
[null,null,"Epileptic encephalopathy, early infantile, 27","GRIN2B"]
[null,null,"Epileptic encephalopathy, early infantile, 46","GRIN2D"]
[null,null,"Epileptic encephalopathy, early infantile, 40","GUF1"]
[null,null,"Epileptic encephalopathy, early infantile, 24","HCN1"]
[null,null,"Epileptic encephalopathy, early infantile, 54","HNRNPU"]
[null,null,"Epileptic encephalopathy, early infantile, 35","ITPA"]
[null,null,"Epileptic encephalopathy, early infantile, 32","KCNA2"]
[null,null,"Epileptic encephalopathy, early infantile, 26","KCNB1"]
[null,null,"Epileptic encephalopathy, early infantile, 7","KCNQ2"]
[null,null,"Epileptic encephalopathy, early infantile, 14","KCNT1"]
[null,null,"Early infantile epilepsy with encephalopathy_MAGI2","MAGI2"]
[null,null,"Encephalopathy, neonatal severe","MECP2"]
[null,null,"Encephalopathy due to defective mitochondrial and peroxisomal fission 2","MFF"]
[null,null,"Epileptic encephalopathy, early infantile, 21","NECAP1"]
[null,null,"Epileptic encephalopathy, early infantile, 58","NTRK2"]
[null,null,"Epileptic encephalopathy, early infantile, 9","PCDH19"]
[null,null,"Encephalopathy, hypotonia, microcephaly ","PGAP1"]
[null,null,"Epileptic encephalopathy, early infantile, 12","PLCB1"]
[null,null,"Epileptic encephalopathy, early infantile, 10","PNKP"]
[null,null,"Infantile or early childhood epileptic encephalopathy","PPP3CA"]
[null,null,"Vitamin-B6-Dependent Epilepsy","PROSC"]
[null,null,"Dravet syndrome","SCN1A"]
[null,null,"Epileptic encephalopathy, early infantile, 52","SCN1B"]
[null,null,"Epileptic encephalopathy, early infantile, 11","SCN2A"]
[null,null,"Epileptic encephalopathy, early infantile, 62","SCN3A"]
[null,null,"Epileptic encephalopathy, early infantile, 13","SCN8A"]
[null,null,"Encephalopathy, familial, with neuroserpin inclusion bodies","SERPINI1"]
[null,null,"Epileptic encephalopathy, early infantile, 30","SIK1"]
[null,null,"Epileptic encephalopathy, early infantile, 34","SLC12A5"]
[null,null,"Epileptic encephalopathy, early infantile, 25","SLC13A5"]
[null,null,"Epileptic encephalopathy, early infantile, 41","SLC1A2"]
[null,null,"Epileptic encephalopathy, early infantile, 39","SLC25A12"]
[null,null,"Epileptic encephalopathy, early infantile, 3","SLC25A22"]
[null,null,"Epileptic encephalopathy_SNAP25","SNAP25"]
[null,null,"Epileptic encephalopathy, early infantile, 5","SPTAN1"]
[null,null,"Epileptic encephalopathy, early infantile, 15","ST3GAL3"]
[null,null,"Epileptic encephalopathy, early infantile, 4","STXBP1"]
[null,null,"Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation","SV2A"]
[null,null,"Epileptic encephalopathy, early infantile, 53","SYNJ1"]
[null,null,"Epileptic encephalopathy, early infantile, 18","SZT2"]
[null,null,"Epileptic encephalopathy, early infantile, 16","TBC1D24"]
[null,null,"Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum","TBCD"]
[null,null,"Encephalopathy, progressive, with amyotrophy and optic atrophy","TBCE"]
[null,null,"Epileptic encephalopathy, early infantile, 44","UBA5"]
[null,null,"Epileptic encephalopathy, early infantile, 28","WWOX"]
[]
["Ectodermal dysplasia","C1orf172,EDA,EDAR,EDARADD,GJB6,HOXC13,KRT74,KRT85,MSX1,NFKBIA,NLRP1,PKP1,PVRL1,PVRL4,TP63,WNT10A","ECTODERMAL DYSPLASIA 12","C1orf172"]
[null,null,"Ectodermal dysplasia 1, hypohidrotic, X-linked","EDA"]
[null,null,"Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant","EDAR"]
[null,null,"Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant","EDARADD"]
[null,null,"Ectodermal dysplasia 2, Clouston type","GJB6"]
[null,null,"Ectodermal dysplasia 9, hair/nail type","HOXC13"]
[null,null,"Ectodermal dysplasia 7, hair/nail type","KRT74"]
[null,null,"Ectodermal dysplasia 4, hair/nail type","KRT85"]
[null,null,"Ectodermal dysplasia 3, Witkop type","MSX1"]
[null,null,"Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency","NFKBIA"]
[null,null,"Corneal intraepithelial dyskeratosis and ectodermal dysplasia","NLRP1"]
[null,null,"Ectodermal dysplasia/skin fragility syndrome","PKP1"]
[null,null,"Cleft lip/palate-ectodermal dysplasia syndrome","PVRL1"]
[null,null,"Ectodermal dysplasia-syndactyly syndrome 1","PVRL4"]
[null,null,"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3","TP63"]
[null,null,"Odontoonychodermal dysplasia","WNT10A"]
["Ectopia lentis et pupillae","ADAMTSL4","Ectopia lentis et pupillae","ADAMTSL4"]
["EDICT syndrome","MIR184","EDICT syndrome","MIR184"]
["Ehlers Danlos syndrome","ADAMTS2,AEBP1,B3GALT6,B4GALT7,C1R,C1S,CHST14,COL1A1,COL1A2,COL3A1,COL5A1,COL5A2,DSE,FKBP14,FLNA,PLOD1,SLC39A13","Ehlers-Danlos syndrome, type VIIC","ADAMTS2"]
[null,null,"Ehlers-Danlos syndrome classic-like-2","AEBP1"]
[null,null,"Ehlers-Danlos syndrome, progeroid type, 2","B3GALT6"]
[null,null,"Ehlers-Danlos syndrome with short stature and limb anomalies","B4GALT7"]
[null,null,"Ehlers-Danlos syndrome, periodontal type, 1","C1R"]
[null,null,"Ehlers-Danlos syndrome, periodontal type, 2","C1S"]
[null,null,"Ehlers-Danlos syndrome, musculocontractural type 1","CHST14"]
[null,null,"Ehlers-Danlos syndrome, type I, type VIIA","COL1A1"]
[null,null,"Ehlers-Danlos syndrome, type VIIB","COL1A2"]
[null,null,"Ehlers-Danlos syndrome, type IV, type III","COL3A1"]
[null,null,"Ehlers-Danlos syndrome, type I, type II","COL5A1"]
[null,null,"Ehlers-Danlos syndrome, type I","COL5A2"]
[null,null,"Ehlers-Danlos syndrome, musculocontractural type 2","DSE"]
[null,null,"Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss","FKBP14"]
[null,null,"Ehlers-Danlos syndrome and periventricular nodular heterotopia","FLNA"]
[null,null,"Ehlers-Danlos syndrome, type VI","PLOD1"]
[null,null,"Spondylocheirodysplasia, Ehlers-Danlos syndrome-like","SLC39A13"]
["Eiken syndrome","PTH1R","Eiken syndrome","PTH1R"]
["Elliptocytosis","EPB41,SPTB","Elliptocytosis-1","EPB41"]
[null,null,"Elliptocytosis-3","SPTB"]
["Ellis-van Creveld syndrome","DYNC2LI1,EVC,EVC2,GLI1","Ellis-van Creveld syndrome_DYNC2LI1","DYNC2LI1"]
[null,null,"Ellis-van Creveld syndrome","EVC"]
[null,null,"Ellis-van Creveld syndrome_EVC2","EVC2"]
[null,null,"Ellis-van Creveld syndrome_GLI1","GLI1"]
["Emberger syndrome","GATA2","Emberger syndrome","GATA2"]
["Emery Dreifuss muscular dystrophy","EMD,FHL1,LMNA,SYNE1,SYNE2,TMEM43","Emery-Dreifuss muscular dystrophy 1, X-linked","EMD"]
[null,null,"Emery-Dreifuss muscular dystrophy 6, X-linked","FHL1"]
[null,null,"Emery-Dreifuss muscular dystrophy 2","LMNA"]
[null,null,"Emery-Dreifuss muscular dystrophy 4, autosomal dominant","SYNE1"]
[null,null,"Emery-Dreifuss muscular dystrophy 5, autosomal dominant","SYNE2"]
[null,null,"Emery-Dreifuss muscular dystrophy 7, AD","TMEM43"]
["Endocrine-cerebroosteodysplasia","ICK","Endocrine-cerebroosteodysplasia","ICK"]
["enlarged vestibular aqueduct","FOXI1,KCNJ10,SLC26A4","Enlarged vestibular aqueduct","FOXI1"]
[null,null,"Enlarged vestibular aqueduct, digenic","KCNJ10"]
[null,null,"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct","SLC26A4"]
["Enterokinase deficiency","TMPRSS15","Enterokinase deficiency","TMPRSS15"]
["Epidermodysplasia verruciformis","TMC6,TMC8","Epidermodysplasia verruciformis_TMC6","TMC6"]
[null,null,"Epidermodysplasia verruciformis_TMC8","TMC8"]
["Epidermolysis bullosa","CD151,COL17A1,COL7A1,DSP,DST,EXPH5,FERMT1,ITGA3,ITGA6,ITGB4,JUP,KRT14,KRT5,LAMA3,LAMB3,LAMC2,PKP1,PLEC","Nephrophathy with pretibial epidernolysis bullosa and deafness","CD151"]
[null,null,"Epidermolysis bullosa, junctional, non-Herlitz type_COL17A1","COL17A1"]
[null,null,"Epidermolysis bullosa dystrophica","COL7A1"]
[null,null,"Epidermolysis bullosa, lethal acantholytic","DSP"]
[null,null,"Epidermolysis bullosa simplex, autosomal recessive 2","DST"]
[null,null,"Epidermolysis bullosa, nonspecific, autosomal recessive","EXPH5"]
[null,null,"Kindler syndrome","FERMT1"]
[null,null,"interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital","ITGA3"]
[null,null,"Epidermolysis bullosa, junctional, with pyloric stenosis","ITGA6"]
[null,null,"Epidermolysis bullosa, junctional, non-Herlitz type_ITGB4","ITGB4"]
[null,null,"Naxos disease with epidermolysis","JUP"]
[null,null,"Epidermolysis bullosa simplex _KRT14","KRT14"]
[null,null,"Epidermolysis bullosa simplex_KRT5","KRT5"]
[null,null,"Epidermolysis bullosa, junctional, Herlitz type","LAMA3"]
[null,null,"Epidermolysis bullosa, junctional, Herlitz type, non-Herlitz type","LAMB3"]
[null,null,"Epidermolysis bullosa, junctional, Herlitz type, non-Herlitz type_LAMC2","LAMC2"]
[null,null,"Ectodermal dysplasia/skin fragility syndrome","PKP1"]
[null,null,"Muscular dystrophy with epidermolysis bullosa simplex","PLEC"]
["Epidermolysis bullosa dystrophica","COL7A1,MMP1","Epidermolysis bullosa dystrophica, AD","COL7A1"]
[null,null,"Epidermolysis bullosa dystrophica, autosomal recessive, modifier of","MMP1"]
["Epidermolysis bullosa simplex","DST,KRT14,KRT5,PLEC","Epidermolysis bullosa simplex, autosomal recessive 2","DST"]
[null,null,"Epidermolysis bullosa simplex _KRT14","KRT14"]
[null,null,"Epidermolysis bullosa simplex_KRT5","KRT5"]
[null,null,"Muscular dystrophy with epidermolysis bullosa simplex","PLEC"]
["Epidermolytic hyperkeratosis","KRT1,KRT10","Epidermolytic hyperkeratosis_KRT1","KRT1"]
[null,null,"Epidermolytic hyperkeratosis_KRT10","KRT10"]
["Epilepsy","AARS,ADAM22,ADRA2B,ADSL,ALDH7A1,ALG13,AP3B2,ARHGEF9,ARV1,ARX,ASAH1,ATP13A2,ATP6V1A,CACNA1A,CDKL5,CERS1,CHD2,CHRNA2,CHRNA4,CHRNB2,CLCN2,CLN3,CLN5,CLN6,CLN8,CNPY3,CNTN2,CNTNAP2,CPA6,CSTB,CTSD,CTSF,DENND5A,DEPDC5,DMBX1,DNAJC5,DNM1,DNM1L,DNMT3A,DOCK7,EEF1A2,EPM2A,FGF12,FOXG1,FRRS1L,GABBR2,GABRA1,GABRB1,GABRB3,GABRD,GABRG2,GAL,GAMT,GATM,GFAP,GNAO1,GOSR2,GPR98,GRIN2A,GRIN2B,GRIN2D,GRN,GUF1,HCN1,HNRNPU,ITPA,KCNA2,KCNB1,KCNC1,KCNMA1,KCNQ2,KCNQ3,KCNT1,KCTD7,LGI1,LMNB2,MECP2,MFF,MFSD8,NECAP1,NHLRC1,NOL3,NPRL2,NRXN1,NTRK2,PCDH19,PGAP1,PLCB1,PNKP,PNPO,PPP3CA,PPT1,PRDM8,PRICKLE1,PROSC,PRRT2,RELN,SCARB2,SCN1A,SCN1B,SCN2A,SCN3A,SCN8A,SCN9A,SERPINI1,SIK1,SLC12A5,SLC13A5,SLC1A2,SLC25A12,SLC25A22,SLC2A1,SLC6A1,SLC6A8,SNAP25,SPTAN1,SRPX2,ST3GAL3,ST3GAL5,STX1B,STXBP1,SV2A,SYN1,SYNJ1,SZT2,TBC1D24,TBCD,TBCE,TBCK,TCF4,TPP1,TSC1,TSC2,UBA5,UBE3A,WWOX","Epileptic encephalopathy, early infantile, 29","AARS"]
[null,null,"Epileptic encephalopathy, early infantile, 61","ADAM22"]
[null,null,"Epilepsy, myoclonic, familial adult, 2","ADRA2B"]
[null,null,"Adenylosuccinase deficiency","ADSL"]
[null,null,"Epilepsy, pyridoxine-dependent","ALDH7A1"]
[null,null,"Epileptic encephalopathy, early infantile, 36","ALG13"]
[null,null,"Epileptic encephalopathy, early infantile, 48","AP3B2"]
[null,null,"Epileptic encephalopathy, early infantile, 8","ARHGEF9"]
[null,null,"Epileptic encephalopathy, early infantile, 38","ARV1"]
[null,null,"Epileptic encephalopathy, early infantile, 1","ARX"]
[null,null,"Proximal SMA with myoclonic epilepsy","ASAH1"]
[null,null,"Ceroid lipofuscinosis, neuronal, 12","ATP13A2"]
[null,null,"Epileptic encephalopathy, early infantile or early childhood 3","ATP6V1A"]
[null,null,"Epileptic encephalopathy, early infantile, 42","CACNA1A"]
[null,null,"Epileptic encephalopathy, early infantile, 2","CDKL5"]
[null,null,"Epilepsy, progressive myoclonic, 8","CERS1"]
[null,null,"Epileptic encephalopathy, childhood-onset","CHD2"]
[null,null,"Epilepsy, nocturnal frontal lobe, 4","CHRNA2"]
[null,null,"Epilepsy, nocturnal frontal lobe, 1","CHRNA4"]
[null,null,"Epilepsy, nocturnal frontal lobe, 3","CHRNB2"]
[null,null,"Leukoencephalopathy with ataxia","CLCN2"]
[null,null,"Ceroid lipofuscinosis, neuronal, 3","CLN3"]
[null,null,"Ceroid lipofuscinosis, neuronal, 5","CLN5"]
[null,null,"Ceroid lipofuscinosis, neuronal, 6","CLN6"]
[null,null,"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant","CLN8"]
[null,null,"Epileptic encephalopathy, early infantile, 60","CNPY3"]
[null,null,"Epilepsy, myoclonic, familial adult, 5","CNTN2"]
[null,null,"Cortical dysplasia-focal epilepsy syndrome","CNTNAP2"]
[null,null,"Epilepsy, familial temporal lobe, 5","CPA6"]
[null,null,"Epilepsy, progressive myoclonic 1A (Baltic)","CSTB"]
[null,null,"Ceroid lipofuscinosis, neuronal, 10","CTSD"]
[null,null,"Ceroid lipofuscinosis, neuronal, 13","CTSF"]
[null,null,"Epileptic encephalopathy, early infantile, 49","DENND5A"]
[null,null,"Epilepsy, familial focal, with variable foci 1","DEPDC5"]
[null,null,"Dominant epilepsy with developmental delay and poor weight gain","DMBX1"]
[null,null,"Ceroid lipofuscinosis, neuronal, 4","DNAJC5"]
[null,null,"Epileptic encephalopathy, early infantile, 31","DNM1"]
[null,null,"Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1","DNM1L"]
[null,null,"Epileptic encephalopathy_DNMT3A","DNMT3A"]
[null,null,"Epileptic encephalopathy, early infantile, 23 with cortical blindness","DOCK7"]
[null,null,"Epileptic encephalopathy, early infantile, 33","EEF1A2"]
[null,null,"Epilepsy, progressive myoclonic 2A (Lafora)","EPM2A"]
[null,null,"Epileptic encephalopathy, early infantile, 47","FGF12"]
[null,null,"Rett syndrome, congenital variant","FOXG1"]
[null,null,"Epileptic encephalopathy, early infantile, 37","FRRS1L"]
[null,null,"Epileptic encephalopathy, early infantile, 59","GABBR2"]
[null,null,"Epileptic encephalopathy, early infantile, 19","GABRA1"]
[null,null,"Epileptic encephalopathy, early infantile, 45","GABRB1"]
[null,null,"Epileptic encephalopathy, early infantile, 43","GABRB3"]
[null,null,"Epilepsy, generalized, with febrile seizures plus, type 5","GABRD"]
[null,null,"Febrile seizures, familial, 8","GABRG2"]
[null,null,"Epilepsy, familial temporal lobe, 8","GAL"]
[null,null,"Cerebral creatine deficiency syndrome 2","GAMT"]
[null,null,"Cerebral creatine deficiency syndrome 3","GATM"]
[null,null,"Alexander disease","GFAP"]
[null,null,"Epileptic encephalopathy, early infantile, 17","GNAO1"]
[null,null,"Epilepsy, progressive myoclonic 6","GOSR2"]
[null,null,"Febrile seizures, familial, 4","GPR98"]
[null,null,"Early infantile epilepsy with encephalopathy","GRIN2A"]
[null,null,"Epileptic encephalopathy, early infantile, 27","GRIN2B"]
[null,null,"Epileptic encephalopathy, early infantile, 46","GRIN2D"]
[null,null,"Ceroid lipofuscinosis, neuronal, 11","GRN"]
[null,null,"Epileptic encephalopathy, early infantile, 40","GUF1"]
[null,null,"Epileptic encephalopathy, early infantile, 24","HCN1"]
[null,null,"Epileptic encephalopathy, early infantile, 54","HNRNPU"]
[null,null,"Epileptic encephalopathy, early infantile, 35","ITPA"]
[null,null,"Epileptic encephalopathy, early infantile, 32","KCNA2"]
[null,null,"Epileptic encephalopathy, early infantile, 26","KCNB1"]
[null,null,"Epilepsy, progressive myoclonic 7","KCNC1"]
[null,null,"Generalized epilepsy and paroxysmal dyskinesia","KCNMA1"]
[null,null,"Epileptic encephalopathy, early infantile, 7","KCNQ2"]
[null,null,"Seizures, benign neonatal, type 2","KCNQ3"]
[null,null,"Epilepsy, nocturnal frontal lobe, 5","KCNT1"]
[null,null,"Ceroid lipofuscinosis, neuronal, 14","KCTD7"]
[null,null,"Epilepsy, familial temporal lobe, 1","LGI1"]
[null,null,"Epilepsy, progressive myoclonic, 9","LMNB2"]
[null,null,"Encephalopathy, neonatal severe","MECP2"]
[null,null,"Encephalopathy due to defective mitochondrial and peroxisomal fission 2","MFF"]
[null,null,"Ceroid lipofuscinosis, neuronal, 7","MFSD8"]
[null,null,"Epileptic encephalopathy, early infantile, 21","NECAP1"]
[null,null,"Epilepsy, progressive myoclonic 2B (Lafora)","NHLRC1"]
[null,null,"Familial cortical myoclonus","NOL3"]
[null,null,"Epilepsy, familial focal, with variable foci 2","NPRL2"]
[null,null,"Pitt-Hopkins-like syndrome 2","NRXN1"]
[null,null,"Epileptic encephalopathy, early infantile, 58","NTRK2"]
[null,null,"Epileptic encephalopathy, early infantile, 9","PCDH19"]
[null,null,"Encephalopathy, hypotonia, microcephaly ","PGAP1"]
[null,null,"Epileptic encephalopathy, early infantile, 12","PLCB1"]
[null,null,"Epileptic encephalopathy, early infantile, 10","PNKP"]
[null,null,"Pyridoxamine 5'-phosphate oxidase deficiency","PNPO"]
[null,null,"Infantile or early childhood epileptic encephalopathy","PPP3CA"]
[null,null,"Ceroid lipofuscinosis, neuronal, 1","PPT1"]
[null,null,"Epilepsy, progressive myoclonic, 10","PRDM8"]
[null,null,"Epilepsy, progressive myoclonic 1B","PRICKLE1"]
[null,null,"Vitamin-B6-Dependent Epilepsy","PROSC"]
[null,null,"Seizures, benign familial infantile, 2","PRRT2"]
[null,null,"Epilepsy, familial temporal lobe, 7","RELN"]
[null,null,"Epilepsy, progressive myoclonic 4, with or without renal failure","SCARB2"]
[null,null,"Dravet syndrome","SCN1A"]
[null,null,"Epileptic encephalopathy, early infantile, 52","SCN1B"]
[null,null,"Epileptic encephalopathy, early infantile, 11","SCN2A"]
[null,null,"Epileptic encephalopathy, early infantile, 62","SCN3A"]
[null,null,"Seizures, benign familial infantile, 5","SCN8A"]
[null,null,"Epilepsy, generalized, with febrile seizures plus, type 7","SCN9A"]
[null,null,"Encephalopathy, familial, with neuroserpin inclusion bodies","SERPINI1"]
[null,null,"Epileptic encephalopathy, early infantile, 30","SIK1"]
[null,null,"Epileptic encephalopathy, early infantile, 34","SLC12A5"]
[null,null,"Epileptic encephalopathy, early infantile, 25","SLC13A5"]
[null,null,"Epileptic encephalopathy, early infantile, 41","SLC1A2"]
[null,null,"Epileptic encephalopathy, early infantile, 39","SLC25A12"]
[null,null,"Epileptic encephalopathy, early infantile, 3","SLC25A22"]
[null,null,"GLUT1 deficiency syndrome","SLC2A1"]
[null,null,"Epilepsy with Myoclonic-Atonic Seizures","SLC6A1"]
[null,null,"Cerebral creatine deficiency syndrome 1","SLC6A8"]
[null,null,"Epileptic encephalopathy_SNAP25","SNAP25"]
[null,null,"Epileptic encephalopathy, early infantile, 5","SPTAN1"]
[null,null,"Rolandic epilepsy, mental retardation, and speech dyspraxia","SRPX2"]
[null,null,"Epileptic encephalopathy, early infantile, 15","ST3GAL3"]
[null,null,"Salt and pepper developmental regression syndrome","ST3GAL5"]
[null,null,"Generalized epilepsy with febrile seizures plus, type 9","STX1B"]
[null,null,"Epileptic encephalopathy, early infantile, 4","STXBP1"]
[null,null,"Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation","SV2A"]
[null,null,"Epilepsy, X-linked, with variable learning disabilities and behavior disorders","SYN1"]
[null,null,"Epileptic encephalopathy, early infantile, 53","SYNJ1"]
[null,null,"Epileptic encephalopathy, early infantile, 18","SZT2"]
[null,null,"Epileptic encephalopathy, early infantile, 16","TBC1D24"]
[null,null,"Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum","TBCD"]
[null,null,"Encephalopathy, progressive, with amyotrophy and optic atrophy","TBCE"]
[null,null,"Epilepsy, developmental delay,hypotonia, VSD","TBCK"]
[null,null,"Pitt-Hopkins syndrome","TCF4"]
[null,null,"Ceroid lipofuscinosis, neuronal, 2","TPP1"]
[null,null,"Tuberous sclerosis 1","TSC1"]
[null,null,"Tuberous sclerosis 2","TSC2"]
[null,null,"Epileptic encephalopathy, early infantile, 44","UBA5"]
[null,null,"Angelman syndrome","UBE3A"]
[null,null,"Epileptic encephalopathy, early infantile, 28","WWOX"]
[]
["Epilepsy, familial focal","DEPDC5,NPRL2,NPRL3,SCN3A","Epilepsy, familial focal, with variable foci 1","DEPDC5"]
[null,null,"Epilepsy, familial focal, with variable foci 2","NPRL2"]
[null,null,"Epilepsy, familial focal, with variable foci 3","NPRL3"]
[null,null,"Epilepsy, familial focal, with variable foci 4","SCN3A"]
["Epilepsy, familial temporal lobe","CPA6,GAL,LGI1,RELN","Epilepsy, familial temporal lobe, 5","CPA6"]
[null,null,"Epilepsy, familial temporal lobe, 8","GAL"]
[null,null,"Epilepsy, familial temporal lobe, 1","LGI1"]
[null,null,"Epilepsy, familial temporal lobe, 7","RELN"]
["Epilepsy, generalized, with febrile seizures plus","GABRD,GABRG2,SCN1A,SCN1B,SCN9A,STX1B","Epilepsy, generalized, with febrile seizures plus, type 5","GABRD"]
[null,null,"Epilepsy, generalized, with febrile seizures plus, type 3","GABRG2"]
[null,null,"Epilepsy, generalized, with febrile seizures plus, type 2","SCN1A"]
[null,null,"Epilepsy, generalized, with febrile seizures plus, type 1","SCN1B"]
[null,null,"Epilepsy, generalized, with febrile seizures plus, type 7","SCN9A"]
[null,null,"Generalized epilepsy with febrile seizures plus, type 9","STX1B"]
["Epilepsy, hearing loss, and mental retardation syndrome","SPATA5","Epilepsy, hearing loss, and mental retardation syndrome","SPATA5"]
["Epilepsy, myoclonic","ADRA2B,CNTN2","Epilepsy, myoclonic, familial adult, 2","ADRA2B"]
[null,null,"Epilepsy, myoclonic, familial adult, 5","CNTN2"]
["Epilepsy, nocturnal frontal lobe","CHRNA2,CHRNA4,CHRNB2,KCNT1","Epilepsy, nocturnal frontal lobe, 4","CHRNA2"]
[null,null,"Epilepsy, nocturnal frontal lobe, 1","CHRNA4"]
[null,null,"Epilepsy, nocturnal frontal lobe, 3","CHRNB2"]
[null,null,"Epilepsy, nocturnal frontal lobe, 5","KCNT1"]
["Epilepsy, progressive myoclonic","CERS1,CSTB,EPM2A,GOSR2,KCNC1,KCTD7,LMNB2,NHLRC1,PRDM8,PRICKLE1,SCARB2","Epilepsy, progressive myoclonic, 8","CERS1"]
[null,null,"Epilepsy, progressive myoclonic 1A (Baltic)","CSTB"]
[null,null,"Epilepsy, progressive myoclonic 2A (Lafora)","EPM2A"]
[null,null,"Epilepsy, progressive myoclonic 6","GOSR2"]
[null,null,"Epilepsy, progressive myoclonic 7","KCNC1"]
[null,null,"Epilepsy, progressive myoclonic 3, with or without intracellular inclusions","KCTD7"]
[null,null,"Epilepsy, progressive myoclonic, 9","LMNB2"]
[null,null,"Epilepsy, progressive myoclonic 2B (Lafora)","NHLRC1"]
[null,null,"Epilepsy, progressive myoclonic, 10","PRDM8"]
[null,null,"Epilepsy, progressive myoclonic 1B","PRICKLE1"]
[null,null,"Epilepsy, progressive myoclonic 4, with or without renal failure","SCARB2"]
["Episodic ataxia","CACNA1A,CACNB4,KCNA1,SLC1A3","Episodic ataxia, type 2","CACNA1A"]
[null,null,"Episodic ataxia, type 5","CACNB4"]
[null,null,"Episodic ataxia 1","KCNA1"]
[null,null,"Episodic ataxia, type 6","SLC1A3"]
["Episodic pain syndrome, familial","SCN10A,SCN11A,TRPA1","Episodic pain syndrome, familial, 2","SCN10A"]
[null,null,"Episodic pain syndrome, familial, 3","SCN11A"]
[null,null,"Episodic pain syndrome, familial, 1","TRPA1"]
["Erythrocytosis","EGLN1,EPAS1,EPO,EPOR,VHL","Erythrocytosis, familial, 3","EGLN1"]
[null,null,"Erythrocytosis, familial, 4","EPAS1"]
[null,null,"Erythrocytosis, familial, 5","EPO"]
[null,null,"Erythrocytosis, familial, 1","EPOR"]
[null,null,"Erythrocytosis, familial, 2","VHL"]
["Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE","DSG1","Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE","DSG1"]
["Erythrokeratodermia","GJA1,GJB3,GJB4,KDSR,KRT83","Erythrokeratodermia variabilis et progressiva","GJA1"]
[null,null,"Erythrokeratodermia variabilis et progressiva 1","GJB3"]
[null,null,"Erythrokeratodermia variabilis et progressiva 2","GJB4"]
[null,null,"Erythrokeratodermia variabilis et progressiva 4","KDSR"]
[null,null,"Erythrokeratodermia variabilis et progressiva 5","KRT83"]
["Estrogen resistance","ESR1,ESR2","Estrogen resistance_ESR1","ESR1"]
[null,null,"Estrogen resistance_ESR2\n","ESR2"]
["Ethylmalonic encephalopathy","ETHE1","Ethylmalonic encephalopathy","ETHE1"]
["Even-plus syndrome","HSPA9","Even-plus syndrome","HSPA9"]
["Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis","COX4I2","Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis","COX4I2"]
["Exudative vitreoretinopathy","CTNNB1,FZD4,LRP5,NDP,TSPAN12,ZNF408","Exudative vitreoretinopathy 7","CTNNB1"]
[null,null,"Exudative vitreoretinopathy 1","FZD4"]
[null,null,"Exudative vitreoretinopathy 4","LRP5"]
[null,null,"Exudative vitreoretinopathy 2, X-linked","NDP"]
[null,null,"Exudative vitreoretinopathy 5","TSPAN12"]
[null,null,"Exudative vitreoretinopathy 6","ZNF408"]
["Fabry disease","GLA","Fabry disease","GLA"]
["Facial paresis, hereditary congenital, 3","HOXB1","Facial paresis, hereditary congenital, 3","HOXB1"]
["Factor 13 deficiency","F13A1,F13B","Factor 13A deficiency","F13A1"]
[null,null,"Factor 13B deficiency","F13B"]
["Factor II deficiency","F2","Hypoprothrombinemia / Dysprothrombinemia","F2"]
["Factor V deficiency","F5","Factor V deficiency","F5"]
["Factor VII deficiency","F7","Factor VII deficiency","F7"]
["Factor X deciciency","F10","Factor X deciciency","F10"]
["Factor XI deficiency","F11","Factor XI deficiency","F11"]
["Factor XII deficiency","F12","Factor XII deficiency","F12"]
["Familial hypomagnesemia","CLDN16,CLDN19,CNNM2,EGF,FXYD2,TRPM6","Hypomagnesemia 3, renal","CLDN16"]
[null,null,"Hypomagnesemia 5, renal, with ocular involvement","CLDN19"]
[null,null,"Hypomagnesemia 6, renal","CNNM2"]
[null,null,"Hypomagnesemia 4, renal","EGF"]
[null,null,"Hypomagnesemia 2, renal","FXYD2"]
[null,null,"Hypomagnesemia 1, intestinal","TRPM6"]
["Familial platelet disorder with predisposition to AML","RUNX1","Familial platelet disorder, with predisposition to AML, with associated myeloid malignancy ","RUNX1"]
["Fanconi anemia","BRCA1,BRCA2,BRIP1,COX4I1,ERCC4,FANCA,FANCB,FANCC,FANCD2,FANCE,FANCF,FANCG,FANCI,FANCL,FANCM,MAD2L2,PALB2,RAD51,RAD51C,SLX4,UBE2T,XRCC2","Fanconi anemia, complementation group S","BRCA1"]
[null,null,"Fanconi anemia, complementation group D1","BRCA2"]
[null,null,"Fanconi anemia, complementation group J","BRIP1"]
[null,null,"Fanconi anemia_COX4I1","COX4I1"]
[null,null,"Fanconi anemia, complementation group Q","ERCC4"]
[null,null,"Fanconi anemia, complementation group A","FANCA"]
[null,null,"Fanconi anemia, complementation group B","FANCB"]
[null,null,"Fanconi anemia, complementation group C","FANCC"]
[null,null,"Fanconi anemia, complementation group D2","FANCD2"]
[null,null,"Fanconi anemia, complementation group E","FANCE"]
[null,null,"Fanconi anemia, complementation group F","FANCF"]
[null,null,"Fanconi anemia, complementation group G","FANCG"]
[null,null,"Fanconi anemia, complementation group I","FANCI"]
[null,null,"Fanconi anemia, complementation group L","FANCL"]
[null,null,"Fanconi anemia, complementation group M","FANCM"]
[null,null,"Fanconi anemia, complementation group V","MAD2L2"]
[null,null,"Fanconi anemia, complementation group N","PALB2"]
[null,null,"Fanconi anemia, complementation group R","RAD51"]
[null,null,"Fanconi anemia, complementation group O","RAD51C"]
[null,null,"Fanconi anemia, complementation group P","SLX4"]
[null,null,"Fanconi anemia, complementation group T","UBE2T"]
[null,null,"Fanconi anemia, complementation group U","XRCC2"]
[]
["Fanconi renotubular syndrome","EHHADH,HNF4A,SLC2A2,SLC34A1","Fanconi renotubular syndrome 3","EHHADH"]
[null,null,"Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young","HNF4A"]
[null,null,"Fanconi-Bickel syndrome","SLC2A2"]
[null,null,"Fanconi renotubular syndrome 2","SLC34A1"]
["Fanconi-Bickel syndrome","SLC2A2","Fanconi-Bickel syndrome","SLC2A2"]
["Fatty acid oxidation Disorders","ACADL,ACADM,ACADS,ACADSB,ACADVL,HADHA","ACADL deficiency","ACADL"]
[null,null,"Acyl-CoA dehydrogenase, medium chain, deficiency of","ACADM"]
[null,null,"Acyl-CoA dehydrogenase, short-chain, deficiency of","ACADS"]
[null,null,"2-methylbutyrylglycinuria","ACADSB"]
[null,null,"VLCAD deficiency","ACADVL"]
[null,null,"LCHAD deficiency / Trifunctional protein deficiency","HADHA"]
["Febrile seizures, familial","CPA6,GABRG2,GPR98","Febrile seizures, familial, 11","CPA6"]
[null,null,"Febrile seizures, familial, 8","GABRG2"]
[null,null,"Febrile seizures, familial, 4","GPR98"]
["Fechtner/Epstein syndrome","MYH9","Fechtner syndrome","MYH9"]
["Feingold syndrome","MIR17HG,MYCN","Feingold syndrome 2","MIR17HG"]
[null,null,"Feingold syndrome 1","MYCN"]
["Female Infertility Characterized by Early Embryonic Arrest","PADI6","Female Infertility Characterized by Early Embryonic Arrest","PADI6"]
["FG syndrome","CASK,FLNA,MED12","FG syndrome 4","CASK"]
[null,null,"FG syndrome 2","FLNA"]
[null,null,"FG syndrome 1","MED12"]
["Fibrodysplasia ossificans progressiva","ACVR1,ADAMTSL2","Fibrodysplasia ossificans progressiva","ACVR1"]
[null,null,"Geleophysic dysplasia 1","ADAMTSL2"]
["Fibrosis of extraocular muscles, congenital","COL25A1,KIF21A,PHOX2A,TUBB3","Fibrosis of extraocular muscles, congenital, 5","COL25A1"]
[null,null,"Fibrosis of extraocular muscles, congenital, 1","KIF21A"]
[null,null,"Fibrosis of extraocular muscles, congenital, 2","PHOX2A"]
[null,null,"Fibrosis of extraocular muscles, congenital, 3A","TUBB3"]
["Filippi syndrome","CKAP2L","Filippi syndrome","CKAP2L"]
["FILS syndrome","POLE","FILS syndrome","POLE"]
["Fish-eye disease","LCAT","Fish-eye disease","LCAT"]
["Floating-Harbor syndrome","SRCAP","Floating-Harbor syndrome","SRCAP"]
["Focal Cortical Dysplasia","TSC1,TSC2","Focal Cortical Dysplasia_TSC1","TSC1"]
[null,null,"Focal Cortical Dysplasia_TSC2","TSC2"]
["Focal dermal hypoplasia","PORCN","Focal dermal hypoplasia","PORCN"]
["Focal segmental glomerulosclerosis","ACTN4,ADCK3,ANLN,APOL1,ARHGAP24,CD2AP,CFH,COQ2,COQ4,COQ6,COQ9,CRB2,CUBN,INF2,ITGB4,MAFB,MYO1E,NXF5,PAX2,PDSS1,PDSS2,SMARCAL1,TRPC6,WT1","Glomerulosclerosis, focal segmental, 1","ACTN4"]
[null,null,"Coenzyme Q10 deficiency, primary, 4","ADCK3"]
[null,null,"Glomerulosclerosis, focal segmental, 8","ANLN"]
[null,null,"Glomerulosclerosis, focal segmental, 4, susceptibility to","APOL1"]
[null,null,"Focal segmental glomerulosclerosis","ARHGAP24"]
[null,null,"Glomerulosclerosis, focal segmental, 3","CD2AP"]
[null,null,"Complement factor H deficiency","CFH"]
[null,null,"Coenzyme Q10 deficiency, primary, 1","COQ2"]
[null,null,"Coenzyme Q10 deficiency, primary, 7","COQ4"]
[null,null,"Coenzyme Q10 deficiency, primary, 6","COQ6"]
[null,null,"Coenzyme Q10 deficiency, primary, 5","COQ9"]
[null,null,"Glomerulosclerosis, focal segmental, 9","CRB2"]
[null,null,"Megaloblastic anemia-1, Finnish type","CUBN"]
[null,null,"Glomerulosclerosis, focal segmental, 5","INF2"]
[null,null,"Epidermolysis bullosa","ITGB4"]
[null,null,"Focal segmental glomerulosclerosis with Duane syndrome","MAFB"]
[null,null,"Glomerulosclerosis, focal segmental, 6","MYO1E"]
[null,null,"X-linked FSGS with heart block","NXF5"]
[null,null,"Glomerulosclerosis, focal segmental, 7","PAX2"]
[null,null,"Coenzyme Q10 deficiency, primary, 2","PDSS1"]
[null,null,"Coenzyme Q10 deficiency, primary, 3","PDSS2"]
[null,null,"Schimke immunoosseous dysplasia","SMARCAL1"]
[null,null,"Glomerulosclerosis, focal segmental, 2","TRPC6"]
[null,null,"Glomerulosclerosis, focal segmental","WT1"]
["Folate malabsorption, hereditary","SLC46A1","Folate malabsorption, hereditary","SLC46A1"]
["Follicle-stimulating hormone deficiency, isolated","FSHB","Follicle-stimulating hormone deficiency, isolated","FSHB"]
["Foveal hypoplasia","PAX6,SLC38A8","Foveal hypoplasia 1","PAX6"]
[null,null,"Foveal hypoplasia 2","SLC38A8"]
["Frank-ter Haar syndrome","SH3PXD2B","Frank-ter Haar syndrome","SH3PXD2B"]
["Fraser syndrome","FRAS1,FREM2,GRIP1","Fraser syndrome 1","FRAS1"]
[null,null,"Fraser syndrome 2","FREM2"]
[null,null,"Fraser syndrome 3","GRIP1"]
["Frontometaphyseal Dysplasia","FLNA,MAP3K7","Frontometaphyseal Dysplasia 1","FLNA"]
[null,null,"Frontometaphyseal Dysplasia 2","MAP3K7"]
["frontonasal dysplasia","ALX1,ALX3,ALX4","Frontonasal dysplasia 3","ALX1"]
[null,null,"Frontonasal dysplasia 1","ALX3"]
[null,null,"Frontonasal dysplasia 2","ALX4"]
["Frontotemporal dementia","ANG,CHCHD10,CHMP2B,FUS,GRN,MAPT,PSEN1,SQSTM1,TARDBP,TBK1,UBQLN2,VCP","Amyotrophic lateral sclerosis 9","ANG"]
[null,null,"Frontotemporal dementia and/or amyotrophic lateral sclerosis 2","CHCHD10"]
[null,null,"Dementia, familial, nonspecific, Amyotrophic lateral sclerosis 17","CHMP2B"]
[null,null,"Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia","FUS"]
[null,null,"Frontotemporal lobar degeneration with ubiquitin-positive inclusions","GRN"]
[null,null,"Dementia, frontotemporal, with or without parkinsonism","MAPT"]
[null,null,"Dementia, frontotemporal","PSEN1"]
[null,null,"Frontotemporal dementia and/or amyotrophic lateral sclerosis 3","SQSTM1"]
[null,null,"Amyotrophic lateral sclerosis 10, with or without FTD","TARDBP"]
[null,null,"Frontotemporal dementia_TBK1","TBK1"]
[null,null,"Amyotrophic lateral sclerosis 15","UBQLN2"]
[null,null,"Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia","VCP"]
["Fructose intolerance","ALDOB","Fructose intolerance","ALDOB"]
["Fructose-1,6-bidphosphatase deficiency","FBP1","Fructose-1,6-bidphosphatase deficiency","FBP1"]
["FSGS / Nephrotic syndrome","ACTN4,ADCK3,ADCK4,ALG1,ANLN,APOL1,ARHGAP24,ARHGDIA,CD2AP,CFH,COL4A3,COL4A4,COL4A5,COQ2,COQ4,COQ6,COQ9,CRB2,CUBN,DGKE,DLC1,EMP2,INF2,ITGA3,ITGB4,ITSN1,ITSN2,KANK1,KANK2,KANK4,LAMA5,LAMB2,LMX1B,MAGI2,MYH9,MYO1E,NPHS1,NPHS2,NUP107,NUP205,NUP93,NXF5,PAX2,PDSS1,PDSS2,PLCE1,PMM2,PTPRO,SCARB2,SGPL1,SMARCAL1,TRPC6,WDR73,WT1","Glomerulosclerosis, focal segmental, 1","ACTN4"]
[null,null,"Coenzyme Q10 deficiency, primary, 4","ADCK3"]
[null,null,"Nephrotic syndrome, type 9","ADCK4"]
[null,null,"Congenital disorder of glycosylation, type Ik","ALG1"]
[null,null,"Glomerulosclerosis, focal segmental, 8","ANLN"]
[null,null,"Glomerulosclerosis, focal segmental, 4, susceptibility to","APOL1"]
[null,null,"Focal segmental glomerulosclerosis","ARHGAP24"]
[null,null,"Nephrotic syndrome, type 8","ARHGDIA"]
[null,null,"Glomerulosclerosis, focal segmental, 3","CD2AP"]
[null,null,"Complement factor H deficiency","CFH"]
[null,null,"Alport syndrome, autosomal 1","COL4A3"]
[null,null,"Alport, autosomal 2","COL4A4"]
[null,null,"Alport syndrome, X-linked","COL4A5"]
[null,null,"Coenzyme Q10 deficiency, primary, 1","COQ2"]
[null,null,"Coenzyme Q10 deficiency, primary, 7","COQ4"]
[null,null,"Coenzyme Q10 deficiency, primary, 6","COQ6"]
[null,null,"Coenzyme Q10 deficiency, primary, 5","COQ9"]
[null,null,"Glomerulosclerosis, focal segmental, 9","CRB2"]
[null,null,"Megaloblastic anemia-1, Finnish type","CUBN"]
[null,null,"Nephrotic syndrome, type 7","DGKE"]
[null,null,"Nephrotic syndrome_DLC1","DLC1"]
[null,null,"Nephrotic syndrome, type 10","EMP2"]
[null,null,"Glomerulosclerosis, focal segmental, 5","INF2"]
[null,null,"Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital","ITGA3"]
[null,null,"Epidermolysis bullosa","ITGB4"]
[null,null,"Nephrotic syndrome_ITSN1","ITSN1"]
[null,null,"Nephrotic syndrome_ITSN2","ITSN2"]
[null,null,"Cerebral palsy, spastic quadriplegic, 2","KANK1"]
[null,null,"Nephrotic syndrome, type 16","KANK2"]
[null,null,"FSGS_KANK4","KANK4"]
[null,null,"Nephrotic syndrome-candidate_LAMA5","LAMA5"]
[null,null,"Nephrotic syndrome, type 5","LAMB2"]
[null,null,"Nail-patella syndrome","LMX1B"]
[null,null,"Nephrotic syndrome, type 15","MAGI2"]
[null,null,"Epstein syndrome","MYH9"]
[null,null,"Glomerulosclerosis, focal segmental, 6","MYO1E"]
[null,null,"Nephrotic syndrome, type 1","NPHS1"]
[null,null,"Nephrotic syndrome, type 2","NPHS2"]
[null,null,"Nephrotic syndrome, type 11","NUP107"]
[null,null,"Nephrotic syndrome, type 13","NUP205"]
[null,null,"Nephrotic syndrome, type 12","NUP93"]
[null,null,"X-linked FSGS with heart block","NXF5"]
[null,null,"Glomerulosclerosis, focal segmental, 7","PAX2"]
[null,null,"Coenzyme Q10 deficiency, primary, 2","PDSS1"]
[null,null,"Coenzyme Q10 deficiency, primary, 3","PDSS2"]
[null,null,"Nephrotic syndrome, type 3","PLCE1"]
[null,null,"Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia","PMM2"]
[null,null,"Nephrotic syndrome, type 6","PTPRO"]
[null,null,"FSGS_SCARB2","SCARB2"]
[null,null,"Nephrotic syndrome_SGPL1","SGPL1"]
[null,null,"Schimke immunoosseous dysplasia","SMARCAL1"]
[null,null,"Glomerulosclerosis, focal segmental, 2","TRPC6"]
[null,null,"Galloway-Mowat Syndrome","WDR73"]
[null,null,"Nephrotic syndrome, type 4","WT1"]
["Fucosidosis","FUCA1","Fucosidosis","FUCA1"]
["Fuhrmann syndrome","WNT7A","Fuhrmann syndrome","WNT7A"]
["GABA transaminase deficiency","ABAT","GABA transaminase deficiency","ABAT"]
["Galactokinase deficiency with cataracts","GALK1","Galactokinase deficiency with cataracts","GALK1"]
["Galactosemia","GALE,GALK1,GALT","Galactose epimerase deficiency","GALE"]
[null,null,"Galactokinase deficiency with cataracts","GALK1"]
[null,null,"Galactosemia","GALT"]
["Galactosialidosis","CTSA","Galactosialidosis","CTSA"]
["Galloway-Mowat Syndrome","TP53RK,WDR4,WDR73","galloway-mowat syndrome 4","TP53RK"]
[null,null,"Galloway-Mowat syndrome_WDR4","WDR4"]
[null,null,"Galloway-Mowat Syndrome","WDR73"]
["GAPO syndrome","ANTXR1","GAPO syndrome","ANTXR1"]
["Gastrointestinal stromal tumor","KIT,PDGFRA,SDHB,SDHC","Gastrointestinal stromal tumor_KIT","KIT"]
[null,null,"Gastrointestinal stromal tumor_PDGFRA","PDGFRA"]
[null,null,"Gastrointestinal stromal tumor_SDHB","SDHB"]
[null,null,"Gastrointestinal stromal tumor_SDHC","SDHC"]
["Gaucher","GBA","Gaucher","GBA"]
["Gaucher disease, atypical","PSAP","Gaucher disease, atypical","PSAP"]
["Gaze palsy, horizontal, with progressive scoliosis","DCC,ROBO3","Gaze palsy, horizontal, with progressive scoliosis 2","DCC"]
[null,null,"Gaze palsy, horizontal, with progressive scoliosis 1","ROBO3"]
["Geleophysic dysplasia","ADAMTSL2,FBN1,LTBP3","Geleophysic dysplasia 1","ADAMTSL2"]
[null,null,"Geleophysic dysplasia 2","FBN1"]
[null,null,"Geleophysic dysplasia 3","LTBP3"]
["Genitopatellar syndrome","KAT6B","Genitopatellar syndrome","KAT6B"]
["Geroderma osteodysplasticum","GORAB","Geroderma osteodysplasticum","GORAB"]
["Ghosal hematodiaphyseal syndrome","TBXAS1","Ghosal hematodiaphyseal syndrome","TBXAS1"]
["Gigantism due to GHRF hypersecretion","GHRH","Gigantism due to GHRF hypersecretion","GHRH"]
["Gilbert syndrome","UGT1A1","Gilbert syndrome","UGT1A1"]
["Gingival fibromatosis","REST,SOS1","Fibromatosis, gingival, 5","REST"]
[null,null,"Fibromatosis, gingival, 1","SOS1"]
["Glanzmann thrombasthenia","ITGA2B,ITGB3","Glanzmann thrombasthenia_ITGA2B","ITGA2B"]
[null,null,"Glanzmann thrombasthenia_ITGB3","ITGB3"]
["Glass syndrome","SATB2","Glass syndrome","SATB2"]
["Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies","ZNF148","Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies","ZNF148"]
["Glomerulopathy with fibronectin deposits","FN1","Glomerulopathy with fibronectin deposits 2","FN1"]
["Glomuvenous malformations","GLMN","Glomuvenous malformations","GLMN"]
["Glucocorticoid deficiency","FGD3,MC2R,MRAP,NNT,TXNRD2","Glucocorticoid deficiency 3","FGD3"]
[null,null,"Glucocorticoid deficiency, due to ACTH unresponsiveness","MC2R"]
[null,null,"Glucocorticoid deficiency 2","MRAP"]
[null,null,"Glucocorticoid deficiency 4","NNT"]
[null,null,"Glucocorticoid deficiency 5","TXNRD2"]
["Glucocorticoid deficiency with achalasia","AAAS","Glucocorticoid deficiency with achalasia","AAAS"]
["Glucose/galactose malabsorption","SLC5A1","Glucose/galactose malabsorption","SLC5A1"]
["GLUT1 deficiency syndrome","SLC2A1","GLUT1 deficiency syndrome","SLC2A1"]
["Glutamate formiminotransferase deficiency","FTCD","Glutamate formiminotransferase deficiency","FTCD"]
["Glutamine deficiency, congenital","GLUL","Glutamine deficiency, congenital","GLUL"]
["Glutaric acidemia / Glutaricaciduria","C7orf10,ETFA,ETFB,ETFDH,GCDH","Glutaric aciduria III","C7orf10"]
[null,null,"Glutaric acidemia IIA","ETFA"]
[null,null,"Glutaric acidemia IIB","ETFB"]
[null,null,"Glutaric acidemia IIC","ETFDH"]
[null,null,"Glutaricaciduria, type I","GCDH"]
["Glutathione synthetase deficiency","GSS","Glutathione synthetase deficiency","GSS"]
["Glycerol kinase deficiency","GK","Glycerol kinase deficiency","GK"]
["Glycine encephalopathy","AMT,GCSH,GLDC,SLC6A9","Glycine encephalopathy_AMT","AMT"]
[null,null,"Glycine encephalopathy_GCSH","GCSH"]
[null,null,"Glycine encephalopathy_GLDC","GLDC"]
[null,null,"Glycine encephalopathy with normal serum glycine","SLC6A9"]
["Glycine N-methyltransferase deficiency","GNMT","Glycine N-methyltransferase deficiency","GNMT"]
["Glycogen storage disease","AGL,ALDOA,ENO3,FBP1,G6PC,GAA,GBE1,GYG1,GYS1,GYS2,LAMP2,LDHA,PCK1,PCK2,PFKM,PGAM2,PGM1,PHKA1,PHKA2,PHKB,PHKG2,PRKAG2,PYGL,PYGM,SLC2A2,SLC37A4","Glycogen storage disease IIIa, IIIb","AGL"]
[null,null,"Glycogen storage disease XII","ALDOA"]
[null,null,"Glycogen storage disease XIII","ENO3"]
[null,null,"Fructose-1,6-bidphosphatase deficiency","FBP1"]
[null,null,"Glycogen storage disease Ia","G6PC"]
[null,null,"Glycogen storage disease II","GAA"]
[null,null,"Glycogen storage disease IV","GBE1"]
[null,null,"Glycogen storage disease XV","GYG1"]
[null,null,"Glycogen storage disease 0, muscle","GYS1"]
[null,null,"Glycogen storage disease, type 0","GYS2"]
[null,null,"Danon disease","LAMP2"]
[null,null,"Glycogen storage disease XI","LDHA"]
[null,null,"Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency","PCK1"]
[null,null,"PEPCK deficiency, mitochondrial","PCK2"]
[null,null,"Glycogen storage disease VII","PFKM"]
[null,null,"Glycogen storage disease X","PGAM2"]
[null,null,"Glycogen storage disease XIV","PGM1"]
[null,null,"Glycogen storage disease IXd","PHKA1"]
[null,null,"Glycogen storage disease, type IXa1, type IXa2","PHKA2"]
[null,null,"Glycogen storage disease, IXb","PHKB"]
[null,null,"Glycogen storage disease IXc","PHKG2"]
[null,null,"Glycogen storage disease of heart, lethal congenital","PRKAG2"]
[null,null,"Glycogen storage disease VI","PYGL"]
[null,null,"Glycogen storage disease V McArdle disease","PYGM"]
[null,null,"Fanconi-Bickel syndrome","SLC2A2"]
[null,null,"Glycogen storage disease Ib, Ic","SLC37A4"]
["Glycosylphosphatidylinositol biosynthesis defect","PGAP1,PGAP2,PGAP3,PIGA,PIGG,PIGL,PIGM,PIGN,PIGO,PIGT,PIGV,PIGW","Glycosylphosphatidylinositol biosynthesis defect 9","PGAP1"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 8","PGAP2"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 10","PGAP3"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 4","PIGA"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 13","PIGG"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 5","PIGL"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 1","PIGM"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 3","PIGN"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 6","PIGO"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 7","PIGT"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 2","PIGV"]
[null,null,"Glycosylphosphatidylinositol biosynthesis defect 11","PIGW"]
["GM1 gangliosidosis","GLB1","GM1 gangliosidosis","GLB1"]
["GM2 gangliosidosis AB variant","GM2A","GM2 gangliosidosis AB variant","GM2A"]
["Goldberg-Shprintzen megacolon syndrome","KIAA1279","Goldberg-Shprintzen megacolon syndrome","KIAA1279"]
["Gordon Holmes Syndrome","RNF216","Gordon Holmes Syndrome","RNF216"]
["Grange Syndrome","YY1AP1","Grange Syndrome","YY1AP1"]
["Gray platelet syndrome","NBEAL2","Gray platelet syndrome","NBEAL2"]
["Greig cephalopolysyndactyly syndrome","GLI3","Greig cephalopolysyndactyly syndrome","GLI3"]
["Griscelli syndrome","MLPH,MYO5A,RAB27A","Griscelli syndrome, type 3","MLPH"]
[null,null,"Griscelli syndrome, type 1","MYO5A"]
[null,null,"Griscelli syndrome, type 2","RAB27A"]
["Growth hormone deficiency","BTK,GH1,GHR,GHSR,IGF1R","Agammaglobulinemia and isolated hormone deficiency","BTK"]
[null,null,"Growth hormone deficiency, isolated, type IA, 1B, II","GH1"]
[null,null,"Laron dwarfism","GHR"]
[null,null,"short stature","GHSR"]
[null,null,"Insulin-like growth factor I, resistance to","IGF1R"]
["Growth hormone insensitivity with immunodeficiency","STAT5B","Growth hormone insensitivity with immunodeficiency","STAT5B"]
["Growth retardation with deafness and mental retardation due to IGF1 deficiency","IGF1","Growth retardation with deafness and mental retardation due to IGF1 deficiency","IGF1"]
["Growth retardation, developmental delay, coarse facies, and early death","FTO","Growth retardation, developmental delay, coarse facies, and early death","FTO"]
["Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy","IARS","Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy","IARS"]
["Guttmacher syndrome","HOXA13","Guttmacher syndrome","HOXA13"]
["Hailey-Hailey disease","ATP2C1","Hailey-Hailey disease","ATP2C1"]
["Hamamy syndrome","IRX5","Hamamy syndrome","IRX5"]
["Hand-foot-uterus syndrome","HOXA13","Hand-foot-uterus syndrome","HOXA13"]
["Harel-Yoon syndrome","ATAD3A","Harel-Yoon syndrome","ATAD3A"]
["Hartnup disorder","SLC6A19","Hartnup disorder","SLC6A19"]
["Hay-Wells syndrome","TP63","Hay-Wells syndrome","TP63"]
["Hearing loss-Dominant non-syndromic","ACTG1,CCDC50,CD164,CEACAM16,COCH,COL11A2,CRYM,DFNA5,DIABLO,DIAPH1,DMXL2,DSPP,EYA4,FAM189A2,GJB2,GJB3,GJB6,GRHL2,HOMER2,KCNQ4,KITLG,MCM2,MIR96,MYH14,MYH9,MYO1A,MYO6,MYO7A,NLRP3,OSBPL2,P2RX2,POU4F3,PTPRQ,SIX1,SLC17A8,SLC44A4,TBC1D24,TECTA,TJP2,TMC1,TNC,WFS1","Deafness, autosomal dominant 20/26","ACTG1"]
[null,null,"Deafness, autosomal dominant 44","CCDC50"]
[null,null,"Deafness, autosomal dominant 66","CD164"]
[null,null,"Deafness, autosomal dominant 4B","CEACAM16"]
[null,null,"Deafness, autosomal dominant 9","COCH"]
[null,null,"Deafness, autosomal dominant 13","COL11A2"]
[null,null,"Deafness, autosomal dominant 40","CRYM"]
[null,null,"Deafness, autosomal dominant 5","DFNA5"]
[null,null,"Deafness, autosomal dominant 64","DIABLO"]
[null,null,"Deafness, autosomal dominant 1","DIAPH1"]
[null,null,"Deafness, autosomal dominant 71","DMXL2"]
[null,null,"Deafness, autosomal dominant 39, with dentinogenesis","DSPP"]
[null,null,"Deafness, autosomal dominant 10","EYA4"]
[null,null,"Deafness, autosomal dominant 51_FAM189A2","FAM189A2"]
[null,null,"Deafness, autosomal dominant 3A","GJB2"]
[null,null,"Deafness, autosomal dominant 2B","GJB3"]
[null,null,"Deafness, autosomal dominant 3B","GJB6"]
[null,null,"Deafness, autosomal dominant 28","GRHL2"]
[null,null,"Deafness, autosomal dominant 68","HOMER2"]
[null,null,"Deafness, autosomal dominant 2A","KCNQ4"]
[null,null,"Deafness, autosomal dominant 69","KITLG"]
[null,null,"Deafness, autosomal dominant 70","MCM2"]
[null,null,"Deafness, autosomal dominant 50","MIR96"]
[null,null,"Deafness, autosomal dominant 4A","MYH14"]
[null,null,"Deafness, autosomal dominant 17","MYH9"]
[null,null,"Deafness, autosomal dominant 48","MYO1A"]
[null,null,"Deafness, autosomal dominant 22","MYO6"]
[null,null,"Deafness, autosomal dominant 11","MYO7A"]
[null,null,"Deafness, autosomal dominant 34","NLRP3"]
[null,null,"Deafness, autosomal dominant 67","OSBPL2"]
[null,null,"Deafness, autosomal dominant 41","P2RX2"]
[null,null,"Deafness, autosomal dominant 15","POU4F3"]
[null,null,"Deafness, autosomal dominant 73","PTPRQ"]
[null,null,"Deafness, autosomal dominant 23","SIX1"]
[null,null,"Deafness, autosomal dominant 25","SLC17A8"]
[null,null,"Deafness, autosomal dominant 72","SLC44A4"]
[null,null,"Deafness, autosomal dominant 65","TBC1D24"]
[null,null,"Deafness, autosomal dominant 8/12","TECTA"]
[null,null,"Deafness, autosomal dominant 51_TJP2","TJP2"]
[null,null,"Deafness, autosomal dominant 36","TMC1"]
[null,null,"Deafness, autosomal dominant 56","TNC"]
[null,null,"Deafness, autosomal dominant 6/14/38","WFS1"]
["Hearing loss-Non-syndromic","ACTG1,ADCY1,AIFM1,CABP2,CCDC50,CD164,CDC14A,CDH23,CEACAM16,CIB2,CLDN14,CLIC5,COCH,COL11A2,COL4A6,CRYM,DCDC2,DFNA5,DFNB31,DFNB59,DIABLO,DIAPH1,DMXL2,DSPP,ELMOD3,EPS8,ESPN,ESRRB,EYA4,FAM189A2,FAM65B,GIPC3,GJB2,GJB3,GJB6,GPRASP2,GPSM2,GRHL2,GRXCR1,GRXCR2,HGF,HOMER2,ILDR1,KARS,KCNQ4,KITLG,LHFPL5,LOXHD1,LRTOMT,MARVELD2,MCM2,MET,MIR96,MSRB3,MYH14,MYH9,MYO15A,MYO1A,MYO3A,MYO6,MYO7A,NLRP3,OSBPL2,OTOA,OTOF,OTOG,OTOGL,P2RX2,PCDH15,PDZD7,PNPT1,POU3F4,POU4F3,PRPS1,PTPRQ,RDX,S1PR2,SERPINB6,SIX1,SLC17A8,SLC26A4,SLC26A5,SLC44A4,SMPX,STRC,SYNE4,TBC1D24,TECTA,TJP2,TMC1,TMIE,TMPRSS3,TNC,TPRN,TRIOBP,TSPEAR,USH1C,WFS1","Deafness, autosomal dominant 20/26","ACTG1"]
[null,null,"Deafness, autosomal recessive 44","ADCY1"]
[null,null,"Deafness, X-linked 5","AIFM1"]
[null,null,"Deafness, autosomal recessive 93","CABP2"]
[null,null,"Deafness, autosomal dominant 44","CCDC50"]
[null,null,"Deafness, autosomal dominant 66","CD164"]
[null,null,"Deafness, autosomal recessive 105","CDC14A"]
[null,null,"Deafness, autosomal recessive 12","CDH23"]
[null,null,"Deafness, autosomal dominant 4B","CEACAM16"]
[null,null,"Deafness, autosomal recessive 48","CIB2"]
[null,null,"Deafness, autosomal recessive 29","CLDN14"]
[null,null,"Deafness, autosomal recessive 103","CLIC5"]
[null,null,"Deafness, autosomal dominant 9","COCH"]
[null,null,"Deafness, autosomal recessive 53","COL11A2"]
[null,null,"Deafness, X-linked 6","COL4A6"]
[null,null,"Deafness, autosomal dominant 40","CRYM"]
[null,null,"Deafness, autosomal recessive 66","DCDC2"]
[null,null,"Deafness, autosomal dominant 5","DFNA5"]
[null,null,"Deafness, autosomal recessive 31","DFNB31"]
[null,null,"Deafness, autosomal recessive 59","DFNB59"]
[null,null,"Deafness, autosomal dominant 64","DIABLO"]
[null,null,"Deafness, autosomal dominant 1","DIAPH1"]
[null,null,"Deafness, autosomal dominant 71","DMXL2"]
[null,null,"Deafness, autosomal dominant 39, with dentinogenesis","DSPP"]
[null,null,"Deafness, autosomal recessive 88","ELMOD3"]
[null,null,"Deafness, autosomal recessive 102","EPS8"]
[null,null,"Deafness, autosomal recessive 36","ESPN"]
[null,null,"Deafness, autosomal recessive 35","ESRRB"]
[null,null,"Deafness, autosomal dominant 10","EYA4"]
[null,null,"Deafness, autosomal dominant 51_FAM189A2","FAM189A2"]
[null,null,"Deafness, autosomal recessive 104","FAM65B"]
[null,null,"Deafness, autosomal recessive 15","GIPC3"]
[null,null,"Deafness, autosomal dominant 3A","GJB2"]
[null,null,"Deafness, autosomal dominant 2B","GJB3"]
[null,null,"Deafness, autosomal dominant 3B","GJB6"]
[null,null,"HEARING LOSS-X-LINKED SYNDROMIC","GPRASP2"]
[null,null,"Deafness, autosomal recessive 82/ Chudley-McCullough syndrome","GPSM2"]
[null,null,"Deafness, autosomal dominant 28","GRHL2"]
[null,null,"Deafness, autosomal recessive 25","GRXCR1"]
[null,null,"Deafness, autosomal recessive 101","GRXCR2"]
[null,null,"Deafness, autosomal recessive 39","HGF"]
[null,null,"Deafness, autosomal dominant 68","HOMER2"]
[null,null,"Deafness, autosomal recessive 42","ILDR1"]
[null,null,"Deafness, autosomal recessive 89","KARS"]
[null,null,"Deafness, autosomal dominant 2A","KCNQ4"]
[null,null,"Deafness, autosomal dominant 69","KITLG"]
[null,null,"Deafness, autosomal recessive 67","LHFPL5"]
[null,null,"Deafness, autosomal recessive 77","LOXHD1"]
[null,null,"Deafness, autosomal recessive 63","LRTOMT"]
[null,null,"Deafness, autosomal recessive 49","MARVELD2"]
[null,null,"Deafness, autosomal dominant 70","MCM2"]
[null,null,"Deafness, autosomal recessive 97","MET"]
[null,null,"Deafness, autosomal dominant 50","MIR96"]
[null,null,"Deafness, autosomal recessive 74","MSRB3"]
[null,null,"Deafness, autosomal dominant 4A","MYH14"]
[null,null,"Deafness, autosomal dominant 17","MYH9"]
[null,null,"Deafness, autosomal recessive 3","MYO15A"]
[null,null,"Deafness, autosomal dominant 48","MYO1A"]
[null,null,"Deafness, autosomal recessive 30","MYO3A"]
[null,null,"Deafness, autosomal recessive 37","MYO6"]
[null,null,"Deafness, autosomal dominant 11","MYO7A"]
[null,null,"Deafness, autosomal dominant 34","NLRP3"]
[null,null,"Deafness, autosomal dominant 67","OSBPL2"]
[null,null,"Deafness, autosomal recessive 22","OTOA"]
[null,null,"Deafness, autosomal recessive 9","OTOF"]
[null,null,"Deafness, autosomal recessive 18B","OTOG"]
[null,null,"Deafness, autosomal recessive 84B","OTOGL"]
[null,null,"Deafness, autosomal dominant 41","P2RX2"]
[null,null,"Deafness, autosomal recessive 23","PCDH15"]
[null,null,"Deafness, autosomal recessive 57","PDZD7"]
[null,null,"Deafness, autosomal recessive 70","PNPT1"]
[null,null,"Deafness, X-linked 2","POU3F4"]
[null,null,"Deafness, autosomal dominant 15","POU4F3"]
[null,null,"Deafness, X-linked 1","PRPS1"]
[null,null,"Deafness, autosomal recessive 84A","PTPRQ"]
[null,null,"Deafness, autosomal recessive 24","RDX"]
[null,null,"Deafness, autosomal recessive 68","S1PR2"]
[null,null,"Deafness, autosomal recessive 91","SERPINB6"]
[null,null,"Deafness, autosomal dominant 23","SIX1"]
[null,null,"Deafness, autosomal dominant 25","SLC17A8"]
[null,null,"Deafness, autosomal recessive 4","SLC26A4"]
[null,null,"Deafness, autosomal recessive 61","SLC26A5"]
[null,null,"Deafness, autosomal dominant 72","SLC44A4"]
[null,null,"Deafness, X-linked 4","SMPX"]
[null,null,"Deafness, autosomal recessive 16","STRC"]
[null,null,"Deafness, autosomal recessive 76","SYNE4"]
[null,null,"Deafness, autosomal dominant 65","TBC1D24"]
[null,null,"Deafness, autosomal dominant 8/12","TECTA"]
[null,null,"Deafness, autosomal dominant 51_TJP2","TJP2"]
[null,null,"Deafness, autosomal dominant 36","TMC1"]
[null,null,"Deafness, autosomal recessive 6","TMIE"]
[null,null,"Deafness, autosomal recessive 8/10","TMPRSS3"]
[null,null,"Deafness, autosomal dominant 56","TNC"]
[null,null,"Deafness, autosomal recessive 79","TPRN"]
[null,null,"Deafness, autosomal recessive 28","TRIOBP"]
[null,null,"Deafness, autosomal recessive 98","TSPEAR"]
[null,null,"Deafness, autosomal recessive 18A","USH1C"]
[null,null,"Deafness, autosomal dominant 6/14/38","WFS1"]
["Hearing loss-Recessive non-syndromic","ADCY1,CABP2,CDC14A,CDH23,CIB2,CLDN14,CLIC5,COCH,COL11A2,DCDC2,DFNB31,DFNB59,ELMOD3,EPS8,ESPN,ESRRB,FAM65B,GIPC3,GJB2,GJB3,GJB6,GPSM2,GRXCR1,GRXCR2,HGF,ILDR1,KARS,LHFPL5,LOXHD1,LRTOMT,MARVELD2,MET,MSRB3,MYO15A,MYO3A,MYO6,MYO7A,OTOA,OTOF,OTOG,OTOGL,PCDH15,PDZD7,PNPT1,PTPRQ,RDX,S1PR2,SERPINB6,SLC26A4,SLC26A5,STRC,SYNE4,TBC1D24,TECTA,TMC1,TMIE,TMPRSS3,TPRN,TRIOBP,TSPEAR,USH1C","Deafness, autosomal recessive 44","ADCY1"]
[null,null,"Deafness, autosomal recessive 93","CABP2"]
[null,null,"Deafness, autosomal recessive 105","CDC14A"]
[null,null,"Deafness, autosomal recessive 12","CDH23"]
[null,null,"Deafness, autosomal recessive 48","CIB2"]
[null,null,"Deafness, autosomal recessive 29","CLDN14"]
[null,null,"Deafness, autosomal recessive 103","CLIC5"]
[null,null,"Deafness, autosomal recessive 110","COCH"]
[null,null,"Deafness, autosomal recessive 53","COL11A2"]
[null,null,"Deafness, autosomal recessive 66","DCDC2"]
[null,null,"Deafness, autosomal recessive 31","DFNB31"]
[null,null,"Deafness, autosomal recessive 59","DFNB59"]
[null,null,"Deafness, autosomal recessive 88","ELMOD3"]
[null,null,"Deafness, autosomal recessive 102","EPS8"]
[null,null,"Deafness, autosomal recessive 36","ESPN"]
[null,null,"Deafness, autosomal recessive 35","ESRRB"]
[null,null,"Deafness, autosomal recessive 104","FAM65B"]
[null,null,"Deafness, autosomal recessive 15","GIPC3"]
[null,null,"Deafness, autosomal recessive 1A","GJB2"]
[null,null,"Deafness, digenic, GJB2/GJB3","GJB3"]
[null,null,"Deafness, autosomal recessive 1B","GJB6"]
[null,null,"Deafness, autosomal recessive 82/ Chudley-McCullough syndrome","GPSM2"]
[null,null,"Deafness, autosomal recessive 25","GRXCR1"]
[null,null,"Deafness, autosomal recessive 101","GRXCR2"]
[null,null,"Deafness, autosomal recessive 39","HGF"]
[null,null,"Deafness, autosomal recessive 42","ILDR1"]
[null,null,"Deafness, autosomal recessive 89","KARS"]
[null,null,"Deafness, autosomal recessive 67","LHFPL5"]
[null,null,"Deafness, autosomal recessive 77","LOXHD1"]
[null,null,"Deafness, autosomal recessive 63","LRTOMT"]
[null,null,"Deafness, autosomal recessive 49","MARVELD2"]
[null,null,"Deafness, autosomal recessive 97","MET"]
[null,null,"Deafness, autosomal recessive 74","MSRB3"]
[null,null,"Deafness, autosomal recessive 3","MYO15A"]
[null,null,"Deafness, autosomal recessive 30","MYO3A"]
[null,null,"Deafness, autosomal recessive 37","MYO6"]
[null,null,"Deafness, autosomal recessive 2","MYO7A"]
[null,null,"Deafness, autosomal recessive 22","OTOA"]
[null,null,"Deafness, autosomal recessive 9","OTOF"]
[null,null,"Deafness, autosomal recessive 18B","OTOG"]
[null,null,"Deafness, autosomal recessive 84B","OTOGL"]
[null,null,"Deafness, autosomal recessive 23","PCDH15"]
[null,null,"Deafness, autosomal recessive 57","PDZD7"]
[null,null,"Deafness, autosomal recessive 70","PNPT1"]
[null,null,"Deafness, autosomal recessive 84A","PTPRQ"]
[null,null,"Deafness, autosomal recessive 24","RDX"]
[null,null,"Deafness, autosomal recessive 68","S1PR2"]
[null,null,"Deafness, autosomal recessive 91","SERPINB6"]
[null,null,"Deafness, autosomal recessive 4","SLC26A4"]
[null,null,"Deafness, autosomal recessive 61","SLC26A5"]
[null,null,"Deafness, autosomal recessive 16","STRC"]
[null,null,"Deafness, autosomal recessive 76","SYNE4"]
[null,null,"Deafness, autosomal recessive 86","TBC1D24"]
[null,null,"Deafness, autosomal recessive 21","TECTA"]
[null,null,"Deafness, autosomal recessive 7","TMC1"]
[null,null,"Deafness, autosomal recessive 6","TMIE"]
[null,null,"Deafness, autosomal recessive 8/10","TMPRSS3"]
[null,null,"Deafness, autosomal recessive 79","TPRN"]
[null,null,"Deafness, autosomal recessive 28","TRIOBP"]
[null,null,"Deafness, autosomal recessive 98","TSPEAR"]
[null,null,"Deafness, autosomal recessive 18A","USH1C"]
["Heart and brain malformation syndrome","SMG9","Heart and brain malformation syndrome","SMG9"]
["Heart block","SCN5A,TRPM4","Heart block, progressive, type IA","SCN5A"]
[null,null,"Progressive familial heart block, type IB","TRPM4"]
["HEM skeletal dysplasia","LBR","Greenberg skeletal dysplasia","LBR"]
["Heme oxygenase-1 deficiency","HMOX1","Heme oxygenase-1 deficiency","HMOX1"]
["Hemimegalencephaly","AKT3,CCND2,PIK3R2","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2","AKT3"]
[null,null,"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3","CCND2"]
[null,null,"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1","PIK3R2"]
["Hemiplegic migraine","ATP1A2,CACNA1A,SCN1A","Migraine, familial hemiplegic, 2","ATP1A2"]
[null,null,"Migraine, familial hemiplegic, 1","CACNA1A"]
[null,null,"Migraine, familial hemiplegic, 3","SCN1A"]
["Hemochromatosis","FTH1,HAMP,HFE,HFE2,SLC40A1,TFR2","Hemochromatosis, type 5","FTH1"]
[null,null,"Hemochromatosis, type 2B","HAMP"]
[null,null,"Hemochromatosis, type 1","HFE"]
[null,null,"Hemochromatosis, type 2A","HFE2"]
[null,null,"Hemochromatosis, type 4","SLC40A1"]
[null,null,"Hemochromatosis, type 3","TFR2"]
["Hemolytic anemia","AK1,BPGM,CD59,G6PD,GCLC,GPI,GPX1,GSS,HK1,NT5C3A,PKLR,RHAG","Hemolytic anemia due to adenylate kinase deficiency","AK1"]
[null,null,"Deficiency of bisphosphoglycerate mutase","BPGM"]
[null,null,"Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy","CD59"]
[null,null,"Hemolytic anemia due to G6PD deficiency","G6PD"]
[null,null,"Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency","GCLC"]
[null,null,"Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency","GPI"]
[null,null,"Hemolytic anemia due to glutathione peroxidase deficiency","GPX1"]
[null,null,"Hemolytic anemia due to glutathione synthetase deficiency","GSS"]
[null,null,"Hemolytic anemia due to hexokinase deficiency","HK1"]
[null,null,"Anemia, hemolytic, due to UMPH1 deficiency","NT5C3A"]
[null,null,"Pyruvate kinase deficiency","PKLR"]
[null,null,"Anemia, hemolytic, Rh-null, regulator type","RHAG"]
["Hemophagocytic lymphohistiocytosis","PRF1,STX11,STXBP2,UNC13D","Hemophagocytic lymphohistiocytosis, familial, 2","PRF1"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 4","STX11"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 5","STXBP2"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 3","UNC13D"]
["Hemophagocytic lymphohistiocytosis [extended panel]","AP3B1,BLOC1S6,CD27,ITK,LYST,MAGT1,PRF1,RAB27A,SH2D1A,SLC7A7,STX11,STXBP2,UNC13D,XIAP","Hermansky-Pudlak syndrome 2","AP3B1"]
[null,null,"Hermansky-pudlak syndrome 9","BLOC1S6"]
[null,null,"Lymphoproliferative syndrome 2","CD27"]
[null,null,"Lymphoproliferative syndrome 1","ITK"]
[null,null,"Spastic paraplegia_LYST","LYST"]
[null,null,"Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia","MAGT1"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 2","PRF1"]
[null,null,"Griscelli syndrome, type 2","RAB27A"]
[null,null,"Lymphoproliferative syndrome, X-linked, 1","SH2D1A"]
[null,null,"Lysinuric protein intolerance","SLC7A7"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 4","STX11"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 5","STXBP2"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 3","UNC13D"]
[null,null,"Lymphoproliferative syndrome, X-linked, 2","XIAP"]
["Hemophilia A","F8","Hemophilia A","F8"]
["Hemophilia B","F9","Hemophilia B","F9"]
["Hemorrhagic destruction of the brain, subependymal calcification, and cataracts","JAM3","Hemorrhagic destruction of the brain, subependymal calcification, and cataracts","JAM3"]
["Hennekam lymphangiectasia-lymphedema syndrome","CCBE1,FAT4","Hennekam lymphangiectasia-lymphedema syndrome 1","CCBE1"]
[null,null,"Hennekam lymphangiectasia-lymphedema syndrome 2","FAT4"]
["Hepatic venoocclusive disease with immunodeficiency","SP110","Hepatic venoocclusive disease with immunodeficiency","SP110"]
["Hereditary autoimmune-mediated lung disease and arthritis","COPA","Hereditary autoimmune-mediated lung disease and arthritis","COPA"]
["Hereditary cancer BRCA1 BRCA2","BRCA1,BRCA2","Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
["Hereditary cancer breast actionable","ATM,BRCA1,BRCA2,CDH1,CHEK2,NBN,NF1,PALB2,PTEN,STK11,TP53","Familial breast / ovarian cancer_ATM","ATM"]
[null,null,"Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Hereditary diffuse gastric cancer","CDH1"]
[null,null,"Li Fraumeni like syndrome","CHEK2"]
[null,null,"Nijmegen breakage syndrome","NBN"]
[null,null,"Neurofibromatosis 1","NF1"]
[null,null,"Hereditary breast_ovarian cancer_PALB2","PALB2"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Peutz Jeghers syndrome","STK11"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary cancer breast expanded","ATM,BARD1,BRCA1,BRCA2,BRIP1,CDH1,CHEK2,MRE11A,MUTYH,NBN,NF1,PALB2,PTEN,RAD50,RAD51C,RAD51D,STK11,TP53","Familial breast / ovarian cancer_ATM","ATM"]
[null,null,"Hereditary breast_ovarian cancer_BARD1","BARD1"]
[null,null,"Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Breast cancer, early-onset","BRIP1"]
[null,null,"Hereditary diffuse gastric cancer","CDH1"]
[null,null,"Li Fraumeni like syndrome","CHEK2"]
[null,null,"Ataxia-telangiectasia-like disorder 1","MRE11A"]
[null,null,"MYH associated polyposis","MUTYH"]
[null,null,"Nijmegen breakage syndrome","NBN"]
[null,null,"Neurofibromatosis 1","NF1"]
[null,null,"Hereditary breast_ovarian cancer_PALB2","PALB2"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Nijmegen Breakage-Like syndrome","RAD50"]
[null,null,"Fanconi anemia, complementation group O","RAD51C"]
[null,null,"Hereditary breast_ovarian cancer_RAD51D","RAD51D"]
[null,null,"Peutz Jeghers syndrome","STK11"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary cancer breast gyn actionable\n","ATM,BRCA1,BRCA2,BRIP1,CDH1,CHEK2,EPCAM,MLH1,MSH2,MSH6,NBN,NF1,PALB2,PMS2,PTEN,RAD51C,RAD51D,STK11,TP53","Familial breast / ovarian cancer_ATM","ATM"]
[null,null,"Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Breast cancer, early-onset","BRIP1"]
[null,null,"Hereditary diffuse gastric cancer","CDH1"]
[null,null,"Li Fraumeni like syndrome","CHEK2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"Nijmegen breakage syndrome","NBN"]
[null,null,"Neurofibromatosis 1","NF1"]
[null,null,"Hereditary breast_ovarian cancer_PALB2","PALB2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Fanconi anemia, complementation group O","RAD51C"]
[null,null,"Hereditary breast_ovarian cancer_RAD51D","RAD51D"]
[null,null,"Peutz Jeghers syndrome","STK11"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary cancer breast/ colon/ gyn actionable","APC,ATM,AXIN2,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CHEK2,EPCAM,GREM1,MLH1,MSH2,MSH3,MSH6,MUTYH,NBN,NF1,NTHL1,PALB2,PMS2,POLD1,POLE,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53","Familial adenomatous polyposis 1","APC"]
[null,null,"Familial breast / ovarian cancer_ATM","ATM"]
[null,null,"Colorectal cancer-oligodontia","AXIN2"]
[null,null,"Polyposis, juvenile intestinal","BMPR1A"]
[null,null,"Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Breast cancer, early-onset","BRIP1"]
[null,null,"Hereditary diffuse gastric cancer","CDH1"]
[null,null,"Li Fraumeni like syndrome","CHEK2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"GREM1 related colon cancer","GREM1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Adenomatous polyposis, recessive_MSH3","MSH3"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"Familial adenomatous polyposis 2","MUTYH"]
[null,null,"Nijmegen breakage syndrome","NBN"]
[null,null,"Neurofibromatosis 1","NF1"]
[null,null,"Familial adenomatous polyposis 3","NTHL1"]
[null,null,"Hereditary breast_ovarian cancer_PALB2","PALB2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Colon cancer_POLD1","POLD1"]
[null,null,"FILS syndrome","POLE"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Fanconi anemia, complementation group O","RAD51C"]
[null,null,"Hereditary breast_ovarian cancer_RAD51D","RAD51D"]
[null,null,"Juvenile polyposis","SMAD4"]
[null,null,"Peutz Jeghers syndrome","STK11"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary cancer colon","APC,AXIN2,BMPR1A,CDH1,CHEK2,EPCAM,GREM1,MLH1,MSH2,MSH3,MSH6,MUTYH,NTHL1,PMS2,POLD1,POLE,PTEN,SMAD4,STK11,TP53","Familial adenomatous polyposis 1","APC"]
[null,null,"Colorectal cancer-oligodontia","AXIN2"]
[null,null,"Polyposis, juvenile intestinal","BMPR1A"]
[null,null,"Hereditary diffuse gastric cancer","CDH1"]
[null,null,"Li Fraumeni like syndrome","CHEK2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"GREM1 related colon cancer","GREM1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Adenomatous polyposis, recessive_MSH3","MSH3"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"Familial adenomatous polyposis 2","MUTYH"]
[null,null,"Familial adenomatous polyposis 3","NTHL1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Colon cancer_POLD1","POLD1"]
[null,null,"FILS syndrome","POLE"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Juvenile polyposis","SMAD4"]
[null,null,"Peutz Jeghers syndrome","STK11"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary cancer gyn actionable","BRCA1,BRCA2,BRIP1,EPCAM,MLH1,MSH2,MSH6,PALB2,PMS2,PTEN,RAD51C,RAD51D,STK11,TP53","Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Breast cancer, early-onset","BRIP1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"Hereditary breast_ovarian cancer_PALB2","PALB2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Fanconi anemia, complementation group O","RAD51C"]
[null,null,"Hereditary breast_ovarian cancer_RAD51D","RAD51D"]
[null,null,"Peutz Jeghers syndrome","STK11"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary cancer gyn expanded","ATM,BARD1,BRCA1,BRCA2,BRIP1,CDH1,CHEK2,DICER1,EPCAM,MLH1,MRE11A,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PMS2,PTEN,RAD50,RAD51C,RAD51D,SMARCA4,STK11,TP53","Familial breast / ovarian cancer_ATM","ATM"]
[null,null,"Hereditary breast_ovarian cancer_BARD1","BARD1"]
[null,null,"Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Breast cancer, early-onset","BRIP1"]
[null,null,"Hereditary diffuse gastric cancer","CDH1"]
[null,null,"Li Fraumeni like syndrome","CHEK2"]
[null,null,"Pleuropulmonary blastoma","DICER1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Ataxia-telangiectasia-like disorder 1","MRE11A"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"MYH associated polyposis","MUTYH"]
[null,null,"Nijmegen breakage syndrome","NBN"]
[null,null,"Neurofibromatosis 1","NF1"]
[null,null,"Hereditary breast_ovarian cancer_PALB2","PALB2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Nijmegen Breakage-Like syndrome","RAD50"]
[null,null,"Fanconi anemia, complementation group O","RAD51C"]
[null,null,"Hereditary breast_ovarian cancer_RAD51D","RAD51D"]
[null,null,"SMARCA4 tumor syndrome","SMARCA4"]
[null,null,"Peutz Jeghers syndrome","STK11"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary cancer kidney","BAP1,EPCAM,FH,FLCN,MET,MITF,MLH1,MSH2,MSH6,PMS2,PTEN,SDHA,SDHB,SDHC,SDHD,TP53,TSC1,TSC2,VHL","Uveal melanoma","BAP1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"Leiomyomatosis and renal cell cancer","FH"]
[null,null,"Birt-Hogg-Dube syndrome","FLCN"]
[null,null,"Renal cell carcinoma, papillary, 1, familial and somatic","MET"]
[null,null,"Hereditary renal cancer_MITF","MITF"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Paragangliomas 5","SDHA"]
[null,null,"Paragangliomas 4","SDHB"]
[null,null,"Paragangliomas 3","SDHC"]
[null,null,"Paragangliomas 1, with or without deafness","SDHD"]
[null,null,"Li fraumeni syndrome","TP53"]
[null,null,"Tuberous sclerosis 1","TSC1"]
[null,null,"Tuberous sclerosis 2","TSC2"]
[null,null,"Von hippel lindau","VHL"]
["Hereditary cancer Lynch syndrome","EPCAM,MLH1,MSH2,MSH6,PMS2","Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
["Hereditary cancer melanoma","BAP1,BRCA1,BRCA2,CDK4,CDKN2A,MITF,POT1,PTEN,TP53","Uveal melanoma","BAP1"]
[null,null,"Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Hereditary melanoma","CDK4"]
[null,null,"Hereditary melanoma_CDKN2A","CDKN2A"]
[null,null,"Hereditary renal cancer_MITF","MITF"]
[null,null,"Familial cutaneous malignant melanoma","POT1"]
[null,null,"Cowden syndrome 1","PTEN"]
[null,null,"Li fraumeni syndrome","TP53"]
["Hereditary cancer pancreatic","APC,ATM,BRCA1,BRCA2,CDKN2A,EPCAM,MLH1,MSH2,MSH6,PALB2,PMS2,STK11,TP53","Familial adenomatous polyposis 1","APC"]
[null,null,"Familial breast / ovarian cancer_ATM","ATM"]
[null,null,"Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Hereditary melanoma_CDKN2A","CDKN2A"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"Hereditary breast_ovarian cancer_PALB2","PALB2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Peutz Jeghers syndrome","STK11"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary cancer paraganglioma","FH,MAX,MEN1,NF1,RET,SDHA,SDHAF2,SDHB,SDHC,SDHD,TMEM127,VHL","Leiomyomatosis and renal cell cancer","FH"]
[null,null,"{Pheochromocytoma, susceptibility to}","MAX"]
[null,null,"Multiple endocrine neoplasia 1","MEN1"]
[null,null,"Neurofibromatosis 1","NF1"]
[null,null,"Multiple endocrine neoplasia IIA IIB","RET"]
[null,null,"Paragangliomas 5","SDHA"]
[null,null,"Paragangliomas 2","SDHAF2"]
[null,null,"Paragangliomas 4","SDHB"]
[null,null,"Paragangliomas 3","SDHC"]
[null,null,"Paragangliomas 1, with or without deafness","SDHD"]
[null,null,"Paraganglioma","TMEM127"]
[null,null,"Von Hippel Lindau","VHL"]
["Hereditary cancer prostate","ATM,BRCA1,BRCA2,CHEK2,EPCAM,HOXB13,MLH1,MSH2,MSH6,NBN,PALB2,PMS2,RAD51D,TP53","Familial breast / ovarian cancer_ATM","ATM"]
[null,null,"Breast-ovarian cancer, familial, 1","BRCA1"]
[null,null,"Breast-ovarian cancer, familial, 2","BRCA2"]
[null,null,"Li Fraumeni like syndrome","CHEK2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 8","EPCAM"]
[null,null,"Hereditary prostate cancer_HOXB13","HOXB13"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 2","MLH1"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 1","MSH2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 5","MSH6"]
[null,null,"Nijmegen breakage syndrome","NBN"]
[null,null,"Hereditary breast_ovarian cancer_PALB2","PALB2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Hereditary breast_ovarian cancer_RAD51D","RAD51D"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Hereditary diffuse gastric cancer","CDH1,MET","Hereditary diffuse gastric cancer","CDH1"]
[null,null,"Hereditary diffuse gastric cancer_MET","MET"]
["Hereditary hemorrhagic telangiectasia","ACVRL1,BMPR2,ENG,GDF2,SMAD4","Telangiectasia, hereditary hemorrhagic, type 2","ACVRL1"]
[null,null,"Pulmonary hypertension, familial primary, 1, with or without HHT","BMPR2"]
[null,null,"Telangiectasia, hereditary hemorrhagic, type 1","ENG"]
[null,null,"Telangiectasia, hereditary hemorrhagic, type 5","GDF2"]
[null,null,"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome","SMAD4"]
["Hereditary multiple exostoses","EXT1,EXT2","Hereditary multiple exostoses, type I","EXT1"]
[null,null,"Hereditary multiple exostoses, type II","EXT2"]
["Hereditary orotic aciduria","UMPS","Hereditary orotic aciduria","UMPS"]
["Hereditary Pancreatitis","CFTR,CTRC,PRSS1,SPINK1","Hereditary Pancreatitis_CFTR","CFTR"]
[null,null,"Hereditary Pancreatitis_CTRC","CTRC"]
[null,null,"Hereditary Pancreatitis_PRSS1","PRSS1"]
[null,null,"Hereditary Pancreatitis_SPINK1","SPINK1"]
["Hereditary sensory neuropathy","ARL6IP1,ATL1,ATL3,CCT5,CLTCL1,DNMT1,DST,FAM134B,IKBKAP,KIF1A,NGF,NTRK1,PRDM12,SCN11A,SCN9A,SPTLC1,SPTLC2,WNK1","Neuropathy, hereditary sensory and autonomic, type II_ARL6IP1","ARL6IP1"]
[null,null,"Neuropathy, hereditary sensory, type ID","ATL1"]
[null,null,"Neuropathy, hereditary sensory, type IF","ATL3"]
[null,null,"Neuropathy, hereditary sensory, with spastic paraplegia","CCT5"]
[null,null,"Congenital Insensitivity to Pain with Preserved Temperature sensation","CLTCL1"]
[null,null,"Neuropathy, hereditary sensory, type IE","DNMT1"]
[null,null,"Neuropathy, hereditary sensory and autonomic, type VI","DST"]
[null,null,"Neuropathy, hereditary sensory and autonomic, type IIB","FAM134B"]
[null,null,"Dysautonomia, familial","IKBKAP"]
[null,null,"Neuropathy, hereditary sensory, type IIC","KIF1A"]
[null,null,"Neuropathy, hereditary sensory and autonomic, type V","NGF"]
[null,null,"Insensitivity to pain, congenital, with anhidrosis","NTRK1"]
[null,null,"Neuropathy, hereditary sensory and autonomic, type VIII","PRDM12"]
[null,null,"Neuropathy, hereditary sensory and autonomic, type VII","SCN11A"]
[null,null,"HSN 2D","SCN9A"]
[null,null,"Neuropathy, hereditary sensory and autonomic, type IA","SPTLC1"]
[null,null,"Neuropathy, hereditary sensory and autonomic, type IC","SPTLC2"]
[null,null,"Neuropathy, hereditary sensory and autonomic, type II","WNK1"]
["Hereditary spherocytosis","ANK1,EPB42,SLC4A1,SPTA1,SPTB","Spherocytosis, type 1","ANK1"]
[null,null,"Hereditary spherocytosis type 5","EPB42"]
[null,null,"Spherocytosis, type 4","SLC4A1"]
[null,null,"Hereditary spherocytosis type 3","SPTA1"]
[null,null,"Hereditary spherocytosis type 2","SPTB"]
["Hermansky Pudlak","AP3B1,AP3D1,BLOC1S3,BLOC1S6,DTNBP1,HPS1,HPS3,HPS4,HPS5,HPS6","Hermansky-Pudlak syndrome 2","AP3B1"]
[null,null,"Hermansky-Pudlak syndrome 10","AP3D1"]
[null,null,"Hermansky-Pudlak syndrome 8","BLOC1S3"]
[null,null,"Hermansky-pudlak syndrome 9","BLOC1S6"]
[null,null,"Hermansky-Pudlak syndrome 7","DTNBP1"]
[null,null,"Hermansky-Pudlak syndrome 1","HPS1"]
[null,null,"Hermansky-Pudlak syndrome 3","HPS3"]
[null,null,"Hermansky-Pudlak syndrome 4","HPS4"]
[null,null,"Hermansky-Pudlak syndrome 5","HPS5"]
[null,null,"Hermansky-Pudlak syndrome 6","HPS6"]
["Heterotaxy","ACVR2B,AK7,ANKS6,ARMC4,C21ORF59,CCDC103,CCDC11,CCDC114,CCDC151,CCDC39,CCDC40,CFC1,DNAAF1,DNAAF2,DNAAF3,DNAH11,DNAH5,DNAI1,DNAI2,DNAL1,DYX1C1,FOXH1,GDF1,HEATR2,INVS,LEFTY2,LRRC6,MMP21,NKX2-5,NME8,NODAL,PIH1D3,PKD1L1,SPAG1,TTC25,ZIC3,ZMYND10","Heterotaxy, visceral, 4, autosomal","ACVR2B"]
[null,null,"Spermatogenic failure 27","AK7"]
[null,null,"Nephronophthisis 16","ANKS6"]
[null,null,"Ciliary dyskinesia, primary, 23","ARMC4"]
[null,null,"Ciliary dyskinesia, primary, 26","C21ORF59"]
[null,null,"Ciliary dyskinesia, primary, 17","CCDC103"]
[null,null,"Heterotaxy, visceral, 6, autosomal recessive","CCDC11"]
[null,null,"Ciliary dyskinesia, primary, 20","CCDC114"]
[null,null,"Ciliary dyskinesia, primary, 30","CCDC151"]
[null,null,"Ciliary dyskinesia, primary, 14","CCDC39"]
[null,null,"Ciliary dyskinesia, primary, 15","CCDC40"]
[null,null,"Heterotaxy, visceral, 2, autosomal","CFC1"]
[null,null,"Ciliary dyskinesia, primary, 13","DNAAF1"]
[null,null,"Ciliary dyskinesia, primary, 10","DNAAF2"]
[null,null,"Ciliary dyskinesia, primary, 2","DNAAF3"]
[null,null,"Ciliary dyskinesia, primary, 7","DNAH11"]
[null,null,"Ciliary dyskinesia, primary, 3","DNAH5"]
[null,null,"Ciliary dyskinesia, primary, 1","DNAI1"]
[null,null,"Ciliary dyskinesia, primary, 9","DNAI2"]
[null,null,"Ciliary dyskinesia, primary, 16","DNAL1"]
[null,null,"Ciliary dyskinesia, primary, 25","DYX1C1"]
[null,null,"Heterotaxy_FOXH1","FOXH1"]
[null,null,"Tetralogy of Fallot 1","GDF1"]
[null,null,"Ciliary dyskinesia, primary, 18","HEATR2"]
[null,null,"Nephronophthisis 2","INVS"]
[null,null,"Left-right axis malformations","LEFTY2"]
[null,null,"Ciliary dyskinesia, primary, 19","LRRC6"]
[null,null,"Heterotaxy, visceral, 7, autosomal","MMP21"]
[null,null,"Atrial septal defect 7","NKX2-5"]
[null,null,"Ciliary dyskinesia, primary, 6","NME8"]
[null,null,"Heterotaxy, visceral, 5","NODAL"]
[null,null,"Ciliary dyskinesia, primary, 36, X-linked","PIH1D3"]
[null,null,"Heterotaxy, visceral, 8, autosomal","PKD1L1"]
[null,null,"Ciliary dyskinesia, primary, 28","SPAG1"]
[null,null,"Ciliary dyskinesia, primary, 35","TTC25"]
[null,null,"Heterotaxy, visceral, 1, X-linked","ZIC3"]
[null,null,"Ciliary dyskinesia, primary, 22","ZMYND10"]
["Hirschsprung disease","ECE1,EDN3,EDNRB,GDNF,RET","Hirschsprung disease, cardiac defects, and autonomic dysfunction","ECE1"]
[null,null,"Hirschsprung disease, susceptibility to, 4","EDN3"]
[null,null,"Hirschsprung disease, susceptibility to, 2","EDNRB"]
[null,null,"Hirschsprung disease, susceptibility to, 3","GDNF"]
[null,null,"Hirschsprung disease, susceptibility to, 1","RET"]
["Hirschsprung disease, cardiac defects, and autonomic dysfunction","ECE1","Hirschsprung disease, cardiac defects, and autonomic dysfunction","ECE1"]
["Histiocytosis-lymphadenopathy plus syndrome","SLC29A3","Histiocytosis-lymphadenopathy plus syndrome","SLC29A3"]
["HMG-CoA synthase-2 deficiency","HMGCS2","HMG-CoA synthase-2 deficiency","HMGCS2"]
["Holocaboxylase synthetase deficiency","HLCS","Holocaboxylase synthetase deficiency","HLCS"]
["Holoprosencephaly","ARX,CDON,CFC1,CHD7,GLI2,PTCH1,SEMA3E,SHH,SIX3,TDGF1,TGIF1,VLDLR,ZIC2","Hydranencephaly with abnormal genitalia","ARX"]
[null,null,"Holoprosencephaly 11","CDON"]
[null,null,"Cardiofaciocutaneous syndrome","CFC1"]
[null,null,"CHARGE syndrome 1","CHD7"]
[null,null,"Holoprosencephaly-9","GLI2"]
[null,null,"Holoprosencephaly-7","PTCH1"]
[null,null,"CHARGE syndrome 2","SEMA3E"]
[null,null,"Holoprosencephaly-3","SHH"]
[null,null,"Holoprosencephaly-2","SIX3"]
[null,null,"Forebrain defects","TDGF1"]
[null,null,"Holoprosencephaly-4","TGIF1"]
[null,null,"Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1","VLDLR"]
[null,null,"Holoprosencephaly-5","ZIC2"]
["Holt-Oram syndrome","TBX5","Holt-Oram syndrome","TBX5"]
["Homocysteinuria","MTHFR","Homocysteinuria","MTHFR"]
["Hyaline fibromatosis syndrome","ANTXR2","Hyaline fibromatosis syndrome","ANTXR2"]
["Hydatidiform mole","KHDC3L,NLRP7","Hydatidiform mole, recurrent, 2","KHDC3L"]
[null,null,"Hydatidiform mole","NLRP7"]
["Hydrocephalus","CCDC88C,FLVCR2,L1CAM,MPDZ,WDR81","Hydrocephalus, nonsyndromic, autosomal recessive 1","CCDC88C"]
[null,null,"Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome","FLVCR2"]
[null,null,"Hydrocephalus due to aqueductal stenosis","L1CAM"]
[null,null,"Hydrocephalus, nonsyndromic, autosomal recessive 2","MPDZ"]
[null,null,"Hydrocephalus, nonsyndromic, autosomal recessive 3","WDR81"]
["Hydrolethalus syndrome","HYLS1,KIF7","Hydrolethalus syndrome 1","HYLS1"]
[null,null,"Hydrolethalus syndrome 2","KIF7"]
["Hydrops comprehensive panel","ALG1,ALG9,ASAH1,BRAF,CANT1,CBL,CCBE1,CDAN1,CHRNA1,CHRND,CHRNG,CLCNKA,CLCNKB,COL2A1,CTSA,DHCR7,FAT4,FGFR3,FOXC2,FOXP3,G6PD,GALNS,GATA1,GBA,GBE1,GLA,GLB1,GNPTAB,GUSB,HADH,HADHB,HRAS,IDUA,KAT6B,KIAA0586,KIF23,KLF1,KMT2D,KRAS,LBR,LIPA,LZTR1,MAP2K1,MAP2K2,MID1,MVK,NEU1,NPC1,NRAS,PEX1,PEX10,PEX12,PEX13,PEX14,PEX16,PEX19,PEX26,PEX3,PEX5,PEX6,PIEZO1,PIGA,PKLR,PMM2,PTH1R,PTPN11,RAF1,RASA1,RIT1,RPL11,RPL35A,RPL5,RPS10,RPS17,RPS19,RPS24,RPS26,SEC23B,SHOC2,SLC17A5,SMPD1,SOS1,SOS2,SOX18,SUMF1,UROS,WDR35","Congenital disorder of glycosylation, type Ik","ALG1"]
[null,null,"Congenital disorder of glycosylation, type Il","ALG9"]
[null,null,"Proximal SMA with myoclonic epilepsy","ASAH1"]
[null,null,"Noonan syndrome 7/LEOPARD syndrome 3","BRAF"]
[null,null,"Desbuquois dysplasia 1","CANT1"]
[null,null,"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia","CBL"]
[null,null,"Hennekam lymphangiectasia-lymphedema syndrome 1","CCBE1"]
[null,null,"Anemia, congenital dyserythropoietic, type Ia","CDAN1"]
[null,null,"Multiple pterygium syndrome 1","CHRNA1"]
[null,null,"Multiple pterygium syndrome 2","CHRND"]
[null,null,"Multiple pterygium syndrome 3","CHRNG"]
[null,null,"Bartter syndrome, type 4b, digenic","CLCNKA"]
[null,null,"Bartter syndrome, type 3, type 4b, digenic","CLCNKB"]
[null,null,"Achondrogenesis, type II or hypochondrogenesis","COL2A1"]
[null,null,"Galactosialidosis","CTSA"]
[null,null,"Smith Lemli Opitz syndrome","DHCR7"]
[null,null,"Hennekam lymphangiectasia-lymphedema syndrome 2","FAT4"]
[null,null,"Thanatophoric dysplasia, type I, type 2","FGFR3"]
[null,null,"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus","FOXC2"]
[null,null,"Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked","FOXP3"]
[null,null,"Hemolytic anemia due to G6PD deficiency","G6PD"]
[null,null,"Mucopolysaccharidosis IVA (Morquio syndrome A)","GALNS"]
[null,null,"Thrombocytopenia with beta-thalassemia, X-linked","GATA1"]
[null,null,"Gaucher","GBA"]
[null,null,"Glycogen storage disease IV","GBE1"]
[null,null,"Fabry disease","GLA"]
[null,null,"Mucopolysaccharidosis type IVB (Morquio)","GLB1"]
[null,null,"I cell disease / Mucolipidosis II alpha/beta","GNPTAB"]
[null,null,"Mucopolysaccharidosis VII (Sly syndrome)","GUSB"]
[null,null,"3-hydroxyacyl-CoA dehydrogenase deficiency","HADH"]
[null,null,"Trifunctional protein deficiency 2","HADHB"]
[null,null,"Costello syndrome","HRAS"]
[null,null,"Mucopolysaccharidosis Is (Hurler)","IDUA"]
[null,null,"Noonan-Like 2","KAT6B"]
[null,null,"Short-rib thoracic dysplasia 14 with polydactyly","KIAA0586"]
[null,null,"Hydrops_KIF23","KIF23"]
[null,null,"Anemia, dyserythropoietic congenital, type IV","KLF1"]
[null,null,"Kabuki syndrome 1","KMT2D"]
[null,null,"Noonan syndrome 3 / Cardiofaciocutaneous syndrome 2","KRAS"]
[null,null,"Greenberg skeletal dysplasia","LBR"]
[null,null,"Lysosomal Acid Lipase deficiency","LIPA"]
[null,null,"Noonan syndrome 10","LZTR1"]
[null,null,"Cardiofaciocutaneous syndrome 3","MAP2K1"]
[null,null,"Cardiofaciocutaneous syndrome 4","MAP2K2"]
[null,null,"Opitz GBBB syndrome, type I","MID1"]
[null,null,"Mevalonic aciduria","MVK"]
[null,null,"Sialidosis","NEU1"]
[null,null,"Niemann-Pick disease, type C1, D","NPC1"]
[null,null,"Noonan syndrome 6","NRAS"]
[null,null,"Peroxisome biogenesis disorder 1A, 1B","PEX1"]
[null,null,"Peroxisome biogenesis disorder 6A, 6B","PEX10"]
[null,null,"Peroxisome biogenesis disorder 3A, 3B","PEX12"]
[null,null,"Peroxisome biogenesis disorder 11A, 11B","PEX13"]
[null,null,"Peroxisome biogenesis disorder 13A","PEX14"]
[null,null,"Peroxisome biogenesis disorder 8A, 8B","PEX16"]
[null,null,"Peroxisome biogenesis disorder 12A","PEX19"]
[null,null,"Peroxisome biogenesis disorder 7A, 7B","PEX26"]
[null,null,"Peroxisome biogenesis disorder 10B","PEX3"]
[null,null,"Peroxisome biogenesis disorder 2A, 2B","PEX5"]
[null,null,"Peroxisome biogenesis disorder 4A, 4B","PEX6"]
[null,null,"Lymphedema, hereditary, III","PIEZO1"]
[null,null,"Multiple congenital anomalies-hypotonia-seizures syndrome 2","PIGA"]
[null,null,"Pyruvate kinase deficiency","PKLR"]
[null,null,"Congenital disorder of glycosylation, type Ia","PMM2"]
[null,null,"Metaphyseal chondrodysplasia, Murk Jansen type","PTH1R"]
[null,null,"Noonan syndrome 1","PTPN11"]
[null,null,"Noonan syndrome 5","RAF1"]
[null,null,"Parkes Weber syndrome","RASA1"]
[null,null,"Noonan syndrome 8","RIT1"]
[null,null,"Diamond-Blackfan anemia 7","RPL11"]
[null,null,"Diamond-Blackfan anemia 5","RPL35A"]
[null,null,"Diamond-Blackfan anemia 6","RPL5"]
[null,null,"Diamond-Blackfan anemia 9","RPS10"]
[null,null,"Diamond-Blackfan anemia 4","RPS17"]
[null,null,"Diamond-Blackfan anemia 1","RPS19"]
[null,null,"Diamond-blackfan anemia 3","RPS24"]
[null,null,"Diamond-Blackfan anemia 10","RPS26"]
[null,null,"Anemia, dyserythropoietic congenital, type II","SEC23B"]
[null,null,"Noonan-like syndrome with loose anagen hair","SHOC2"]
[null,null,"Sialic acid storage disorder, infantile","SLC17A5"]
[null,null,"Niemann-Pick disease, type A, type B","SMPD1"]
[null,null,"Noonan syndrome 4","SOS1"]
[null,null,"Noonan syndrome 9","SOS2"]
[null,null,"Hypotrichosis-lymphedema-telangiectasia syndrome","SOX18"]
[null,null,"Multiple sulfatase deficiency","SUMF1"]
[null,null,"Porphyria, congenital erythropoietic","UROS"]
[null,null,"Short-rib thoracic dysplasia 7 with or without polydactyly","WDR35"]
["Hydrops fetalis, nonimmune, and/or atrial septal defect","EPHB4","Hydrops fetalis, nonimmune, and/or atrial septal defect","EPHB4"]
["Hydroxykynureninuria","KYNU","Hydroxykynureninuria","KYNU"]
["Hyper-IgD syndrome","MVK","Hyper-IgD syndrome","MVK"]
["Hyper-IgE recurrent infection syndrome","DOCK8,STAT3","Hyper-IgE recurrent infection syndrome, autosomal recessive","DOCK8"]
[null,null,"Hyper-IgE recurrent infection syndrome","STAT3"]
["Hyperaldosteronism","CACNA1D,CACNA1H,CYP11B1,CYP11B2,KCNJ5","Primary aldosteronism, seizures, and neurologic abnormalities","CACNA1D"]
[null,null,"Hyperaldosteronism, familial, type IV","CACNA1H"]
[null,null,"Hyperaldosteronism, familial, type I","CYP11B1"]
[null,null,"Hypoaldosteronism, congenital, due to CMO I deficiency","CYP11B2"]
[null,null,"Hyperaldosteronism, familial, type III","KCNJ5"]
["Hyperammonemia due to carbonic anhydrase VA deficiency","CA5A","Hyperammonemia due to carbonic anhydrase VA deficiency","CA5A"]
["Hyperbilirubinemia","ABCC2,SLCO1B1,SLCO1B3,UGT1A1","Dubin-Johnson syndrome","ABCC2"]
[null,null,"Hyperbilirubinemia, Rotor type, digenic A","SLCO1B1"]
[null,null,"Hyperbilirubinemia, Rotor type, digenic B","SLCO1B3"]
[null,null,"Gilbert syndrome","UGT1A1"]
["Hyperbilirubinemia, Rotor type","SLCO1B1,SLCO1B3","Hyperbilirubinemia, Rotor type, digenic A","SLCO1B1"]
[null,null,"Hyperbilirubinemia, Rotor type, digenic B","SLCO1B3"]
["Hyperbiliverdinemia","BLVRA","Hyperbiliverdinemia","BLVRA"]
["Hypercalcemia","ALPL,AP2S1,CASR,CYP24A1,GNA11,PTH1R,SLC34A1","hypophosphotasia","ALPL"]
[null,null,"Hypocalciuric hypercalcemia, type III","AP2S1"]
[null,null,"Hypocalciuric hypercalcemia, type I","CASR"]
[null,null,"Infantile hypercalcemia","CYP24A1"]
[null,null,"Hypocalciuric hypercalcemia, type II","GNA11"]
[null,null,"Metaphyseal chondrodysplasia, Murk Jansen type","PTH1R"]
[null,null,"Idiopathic Infantile Hypercalcemia","SLC34A1"]
["Hypercalciuria","ADCY10","Hypercalciuria, absorptive, susceptibility to","ADCY10"]
["Hypercarotenemia and vitamin A deficiency, autosomal dominant","BCMO1","Hypercarotenemia and vitamin A deficiency, autosomal dominant","BCMO1"]
["Hypercholanemia, familial","BAAT,EPHX1,TJP2","Hypercholanemia, familial 1","BAAT"]
[null,null,"Hypercholanemia, familial 2","EPHX1"]
[null,null,"Hypercholanemia, familial 3","TJP2"]
["Hyperekplexia","GLRA1,GLRB,SLC6A5","Hyperekplexia, hereditary 1","GLRA1"]
[null,null,"Hyperekplexia 2","GLRB"]
[null,null,"Hyperekplexia 3","SLC6A5"]
["Hyperglycinemia, lactic acidosis, and seizures","LIAS","Hyperglycinemia, lactic acidosis, and seizures","LIAS"]
["Hyperglycinuria","SLC6A20","Hyperglycinuria","SLC6A20"]
["Hyperhomocystinemia/ Homocysteinuria","CBS,MTR,MTRR","Homocystinuria (Hyperhomocysteinemia and thrombosis)","CBS"]
[null,null,"Hyperhomocystinemia -methionine synthase- cbl G","MTR"]
[null,null,"Hyperhomocystinemia -methionine synthase reductae - cblE","MTRR"]
["Hyperlysinemia","AASS","Hyperlysinemia","AASS"]
["Hypermethioninemia","ADK,AHCY,MAT1A","Hypermethioninemia due to adenosine kinase deficiency","ADK"]
[null,null,"Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase","AHCY"]
[null,null,"Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency","MAT1A"]
["Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome","SLC25A15","Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome","SLC25A15"]
["Hyperoxaluria","AGXT,GRHPR,HOGA1","Hyperoxaluria, primary, type I","AGXT"]
[null,null,"Hyperoxaluria, primary, type II","GRHPR"]
[null,null,"Hyperoxaluria, primary, type III","HOGA1"]
["Hyperparathyroidism","CASR,CDC73,GCM2","Hyperparathyroidism, neonatal severe","CASR"]
[null,null,"Hyperparathyroidism, familial primary","CDC73"]
[null,null,"Familial Isolated Hyperparathyroidism","GCM2"]
["Hyperphe/biopterin metabolism","DNAJC12,GCH1,PAH,PCBD1,PTS,QDPR,SPR","Hyperphenylalaninemia, Dystonia, and Intellectual Disability.","DNAJC12"]
[null,null,"Hyperphenylalaninemia, BH4-deficient, B","GCH1"]
[null,null,"Phenylketonuria","PAH"]
[null,null,"Hyperphenylalaninemia, BH4-deficient, D","PCBD1"]
[null,null,"Hyperphenylalaninemia, BH4-deficient, A","PTS"]
[null,null,"Hyperphenylalaninemia, BH4-deficient, C","QDPR"]
[null,null,"Sepiapterin reductase deficiency","SPR"]
["Hyperphosphatasia with mental retardation syndrome","PGAP2,PGAP3,PIGO,PIGV,PIGW","Hyperphosphatasia with mental retardation syndrome 3","PGAP2"]
[null,null,"Hyperphosphatasia with mental retardation syndrome 4","PGAP3"]
[null,null,"Hyperphosphatasia with mental retardation syndrome 2","PIGO"]
[null,null,"Hyperphosphatasia with mental retardation syndrome 1","PIGV"]
[null,null,"Hyperphosphatasia with mental retardation syndrome 5","PIGW"]
["Hyperpigmentation","KITLG","Hyperpigmentation, familial progressive, 2","KITLG"]
["Hyperprolinemia","ALDH4A1,PRODH","Hyperprolinemia, type II","ALDH4A1"]
[null,null,"Hyperprolinemia, type I","PRODH"]
["Hyperthyroidism, nonautoimmune","TSHR","Hyperthyroidism, nonautoimmune","TSHR"]
["Hypertrichosis","DSC3","Hypotrichosis and recurrent skin vesicles","DSC3"]
["Hypertriglyceridemia, transient infantile","GPD1","Hypertriglyceridemia, transient infantile","GPD1"]
["Hypertrophic osteoarthropathy","HPGD,SLCO2A1","Hypertrophic osteoarthropathy, primary, autosomal recessive 1","HPGD"]
[null,null,"Hypertrophic osteoarthropathy, primary, autosomal recessive 2","SLCO2A1"]
["Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","SARS2","Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","SARS2"]
["Hyperuricemic nephropathy","REN,SARS2,SEC61A1,UMOD","Hyperuricemic nephropathy, familial juvenile 2","REN"]
[null,null,"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","SARS2"]
[null,null,"Hyperuricemic nephropathy, familial juvenile, 4","SEC61A1"]
[null,null,"Hyperuricemic nephropathy, familial juvenile 1","UMOD"]
["Hypervalinemia or hyperleucine-isoleucinemia","BCAT2","Hypervalinemia or hyperleucine-isoleucinemia","BCAT2"]
["Hypobetalipoproteinemia","APOB","Hypobetalipoproteinemia","APOB"]
["Hypoglycemia","ACAD9,ACADL,ACADM,ACADS,ACADVL,AKT2,CPT1A,CPT1B,CPT1C,CPT2,ETFA,ETFB,ETFDH,GCK,GLUD1,HADH,HADHA,HADHB,INSR,KCNJ11,LPIN1,SLC16A1,SLC22A5,SLC25A20,TAZ","Mitochondrial complex I deficiency due to ACAD9 deficiency","ACAD9"]
[null,null,"ACADL deficiency","ACADL"]
[null,null,"Acyl-CoA dehydrogenase, medium chain, deficiency of","ACADM"]
[null,null,"Acyl-CoA dehydrogenase, short-chain, deficiency of","ACADS"]
[null,null,"VLCAD deficiency","ACADVL"]
[null,null,"Hypoinsulinemic hypoglycemia with hemihypertrophy","AKT2"]
[null,null,"CPT deficiency, hepatic, type IA","CPT1A"]
[null,null,"CPT deficiency","CPT1B"]
[null,null,"CPT deficiency, hepatic, type IC","CPT1C"]
[null,null,"CPT deficiency, hepatic, type II","CPT2"]
[null,null,"Glutaric acidemia IIA","ETFA"]
[null,null,"Glutaric acidemia IIB","ETFB"]
[null,null,"Glutaric acidemia IIC","ETFDH"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 3","GCK"]
[null,null,"Hyperinsulinism-hyperammonemia syndrome","GLUD1"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 4","HADH"]
[null,null,"Trifunctional protein deficiency 1","HADHA"]
[null,null,"Trifunctional protein deficiency 2","HADHB"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 5","INSR"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 2","KCNJ11"]
[null,null,"Myoglobinuria, acute recurrent, autosomal recessive","LPIN1"]
[null,null,"Hyperinsulinemic hypoglycemia, familial, 7","SLC16A1"]
[null,null,"Carnitine deficiency, systemic primary","SLC22A5"]
[null,null,"Carnitine-acylcarnitine translocase deficiency","SLC25A20"]
[null,null,"Barth syndrome","TAZ"]
["Hypogonadotropic hypogonadism","CHD7,DUSP6,FEZF1,FGF17,FGF8,FGFR1,FLRT3,GNRH1,GNRHR,HS6ST1,IL17RD,KAL1,KISS1,KISS1R,LHB,NSMF,POLR3B,PROK2,PROKR2,SEMA3A,SPRY4,TAC3,TACR3,WDR11","Hypogonadotropic hypogonadism 5 with or without anosmia","CHD7"]
[null,null,"Hypogonadotropic hypogonadism 19 with or without anosmia","DUSP6"]
[null,null,"Hypogonadotropic hypogonadism 22 with or without anosmia","FEZF1"]
[null,null,"Hypogonadotropic hypogonadism 20 with or without anosmia","FGF17"]
[null,null,"Hypogonadotropic hypogonadism 6 with or without anosmia","FGF8"]
[null,null,"Hypogonadotropic hypogonadism 2 with or without anosmia","FGFR1"]
[null,null,"Hypogonadotropic hypogonadism 21 with anosmia","FLRT3"]
[null,null,"Hypogonadotropic hypogonadism 12 with or without anosmia","GNRH1"]
[null,null,"Hypogonadotropic hypogonadism 7 with or without anosmia","GNRHR"]
[null,null,"Hypogonadotropic hypogonadism 15 with or without anosmia","HS6ST1"]
[null,null,"Hypogonadotropic hypogonadism 18 with or without anosmia","IL17RD"]
[null,null,"Hypogonadotropic hypogonadism 1 with or without anosmia","KAL1"]
[null,null,"Hypogonadotropic hypogonadism 13 with or without anosmia","KISS1"]
[null,null,"Hypogonadotropic hypogonadism 8 with or without anosmia","KISS1R"]
[null,null,"Hypogonadotropic hypogonadism 23 with or without anosmia","LHB"]
[null,null,"Hypogonadotropic hypogonadism 9 with or without anosmia","NSMF"]
[null,null,"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism","POLR3B"]
[null,null,"Hypogonadotropic hypogonadism 4 with or without anosmia","PROK2"]
[null,null,"Hypogonadotropic hypogonadism 3 with or without anosmia","PROKR2"]
[null,null,"Hypogonadotropic hypogonadism 16 with or without anosmia","SEMA3A"]
[null,null,"Hypogonadotropic hypogonadism 17 with or without anosmia","SPRY4"]
[null,null,"Hypogonadotropic hypogonadism 10 with or without anosmia","TAC3"]
[null,null,"Hypogonadotropic hypogonadism 11 with or without anosmia","TACR3"]
[null,null,"Hypogonadotropic hypogonadism 14 with or without anosmia","WDR11"]
["Hypoinsulinemic hypoglycemia and hemihypertrophy","AKT2","Hypoinsulinemic hypoglycemia and hemihypertrophy","AKT2"]
["Hypoparathyroidism","GATA3,GCM2,PTH,TBCE","Hypoparathyroidism, sensorineural deafness, and renal dysplasia","GATA3"]
[null,null,"Hypoparathyroidism, familial isolated","GCM2"]
[null,null,"Hypoparathyroidism","PTH"]
[null,null,"Hypoparathyroidism-retardation-dysmorphism syndrome","TBCE"]
["Hypoparathyroidism-retardation-dysmorphism syndrome","TBCE","Hypoparathyroidism-retardation-dysmorphism syndrome","TBCE"]
["Hypoparathyroidism, sensorineural deafness, and renal dysplasia","GATA3","Hypoparathyroidism, sensorineural deafness, and renal dysplasia","GATA3"]
["Hypophosphatemic rickets","CLCN5,DMP1,ENPP1,FGF23,PHEX,SLC34A3","Hypophosphatemic rickets","CLCN5"]
[null,null,"Hypophosphatemic rickets, autosomal recessive","DMP1"]
[null,null,"Hypophosphatemic rickets, autosomal recessive, 2","ENPP1"]
[null,null,"Hypophosphatemic rickets, autosomal dominant","FGF23"]
[null,null,"Hypophosphatemic rickets, X-linked dominant","PHEX"]
[null,null,"Hypophosphatemic rickets with hypercalciuria","SLC34A3"]
["hypophosphotasia","ALPL","hypophosphotasia","ALPL"]
["Hypoplastic left heart syndrome","GJA1,NKX2-5","Hypoplastic left heart syndrome 1","GJA1"]
[null,null,"Hypoplastic left heart syndrome 2","NKX2-5"]
["Hypospadias","MAMLD1,SRD5A2","Hypospadias 2, X-linked","MAMLD1"]
[null,null,"Pseudovaginal perineoscrotal hypospadias","SRD5A2"]
["Hypothryoidism","IGSF1,NKX2-5,PAX8,THRA,TSHB,TSHR","Hypothyroidism, central, and testicular enlargement","IGSF1"]
[null,null,"Hypothyroidism, congenital nongoitrous, 5","NKX2-5"]
[null,null,"Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia","PAX8"]
[null,null,"Hypothyroidism, congenital, nongoitrous, 6","THRA"]
[null,null,"Hypothryoidism, congenital, nongoitrous 4","TSHB"]
[null,null,"Hypothyroidism, congenital, nongoitrous, 1","TSHR"]
["Hypotonia, infantile, with psychomotor retardation and characteristic facies","NALCN,TBCK,UNC80","Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","NALCN"]
[null,null,"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3","TBCK"]
[null,null,"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2","UNC80"]
["Hypotrichosis","APCDD1,CDH3,CDSN,DSC3,DSG4,HR,KRT71,KRT74,LIPH,LPAR6,RPL21,SNRPE","Hypotrichosis 1","APCDD1"]
[null,null,"Hypotrichosis, congenital, with juvenile macular dystrophy","CDH3"]
[null,null,"Hypotrichosis 2","CDSN"]
[null,null,"Hypotrichosis and recurrent skin vesicles","DSC3"]
[null,null,"Hypotrichosis 6","DSG4"]
[null,null,"Hypotrichosis 4","HR"]
[null,null,"Hypotrichosis 13","KRT71"]
[null,null,"Hypotrichosis 3","KRT74"]
[null,null,"Hypotrichosis 7","LIPH"]
[null,null,"Hypotrichosis 8","LPAR6"]
[null,null,"Hypotrichosis 12","RPL21"]
[null,null,"Hypotrichosis 11","SNRPE"]
["Hypotrichosis-lymphedema-telangiectasia syndrome","SOX18","Hypotrichosis-lymphedema-telangiectasia syndrome","SOX18"]
["I cell disease","GNPTAB","I cell disease / Mucolipidosis II alpha/beta","GNPTAB"]
["Ichthyosis","ABCA12,ABHD5,ALOX12B,ALOXE3,CASP14,CERS3,CLDN1,CSTA,CYP4F22,FLG,KRT1,KRT10,KRT2,LIPN,LOR,NIPAL4,PNPLA1,SDR9C7,SERPINB8,SLC27A4,SPINK5,ST14,STS,SULT2B1,TGM1","Ichthyosis, congenital, autosomal recessive 4","ABCA12"]
[null,null,"Chanarin-Dorfman syndrome","ABHD5"]
[null,null,"Ichthyosis, congenital, autosomal recessive 2","ALOX12B"]
[null,null,"Ichthyosis, congenital, autosomal recessive 3","ALOXE3"]
[null,null,"Ichthyosis, congenital, autosomal recessive 12","CASP14"]
[null,null,"Ichthyosis, congenital, autosomal recessive 9","CERS3"]
[null,null,"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis","CLDN1"]
[null,null,"Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, peeling skin syndrome 4","CSTA"]
[null,null,"Ichthyosis, congenital, autosomal recessive 5","CYP4F22"]
[null,null,"Ichthyosis vulgaris","FLG"]
[null,null,"Ichthyosis histrix, Curth-Macklin type","KRT1"]
[null,null,"Ichthyosis with confetti","KRT10"]
[null,null,"Ichthyosis bullosa of Siemens","KRT2"]
[null,null,"Ichthyosis, congenital, autosomal recessive 8","LIPN"]
[null,null,"Vohwinkel syndrome with ichthyosis","LOR"]
[null,null,"Ichthyosis, congenital, autosomal recessive 6","NIPAL4"]
[null,null,"Ichthyosis, congenital, autosomal recessive 10","PNPLA1"]
[null,null,"Ichthyosis, congenital, autosomal recessive 13","SDR9C7"]
[null,null,"Ichthyosis, congenital, autosomal recessive, peeling skin syndrome 5","SERPINB8"]
[null,null,"Ichthyosis prematurity syndrome","SLC27A4"]
[null,null,"Netherton syndrome","SPINK5"]
[null,null,"Ichthyosis, congenital, autosomal recessive 11","ST14"]
[null,null,"Ichthyosis, X-linked","STS"]
[null,null,"Ichthyosis, congenital, autosomal recessive 14","SULT2B1"]
[null,null,"Ichthyosis, congenital, autosomal recessive 1","TGM1"]
[]
["Ichthyosis, congenital, autosomal recessive","ABCA12,ALOX12B,ALOXE3,CASP14,CERS3,CYP4F22,LIPN,NIPAL4,PNPLA1,SDR9C7,SERPINB8,ST14,SULT2B1,TGM1","Ichthyosis, congenital, autosomal recessive 4","ABCA12"]
[null,null,"Ichthyosis, congenital, autosomal recessive 2","ALOX12B"]
[null,null,"Ichthyosis, congenital, autosomal recessive 3","ALOXE3"]
[null,null,"Ichthyosis, congenital, autosomal recessive 12","CASP14"]
[null,null,"Ichthyosis, congenital, autosomal recessive 9","CERS3"]
[null,null,"Ichthyosis, congenital, autosomal recessive 5","CYP4F22"]
[null,null,"Ichthyosis, congenital, autosomal recessive 8","LIPN"]
[null,null,"Ichthyosis, congenital, autosomal recessive 6","NIPAL4"]
[null,null,"Ichthyosis, congenital, autosomal recessive 10","PNPLA1"]
[null,null,"Ichthyosis, congenital, autosomal recessive 13","SDR9C7"]
[null,null,"Ichthyosis, congenital, autosomal recessive, peeling skin syndrome 5","SERPINB8"]
[null,null,"Ichthyosis, congenital, autosomal recessive 11","ST14"]
[null,null,"Ichthyosis, congenital, autosomal recessive 14","SULT2B1"]
[null,null,"Ichthyosis, congenital, autosomal recessive 1","TGM1"]
["Idiopathic basal ganglia calcification","PDGFB,PDGFRB,SLC20A2,XPR1","Basal ganglia calcification, idiopathic, 5","PDGFB"]
[null,null,"Basal ganglia calcification, idiopathic, 4","PDGFRB"]
[null,null,"Basal ganglia calcification, idiopathic, 1","SLC20A2"]
[null,null,"Basal ganglia calcification, idiopathic, 6","XPR1"]
["IFAP syndrome with or without BRESHECK syndrome","MBTPS2","IFAP syndrome with or without BRESHECK syndrome","MBTPS2"]
["Immunodeficiency","ATP6AP1,B2M,BCL10,BCL11B,CARD11,CD247,CD3D,CD3E,CD3G,CORO1A,CTPS1,CYBB,DOCK2,FCGR3A,GATA2,IFNAR2,IFNGR1,IFNGR2,IKBKB,IL12B,IL12RB1,IL2RA,IL6ST,IRF7,IRF8,ISG15,LCK,MAGT1,MALT1,MSN,PGM3,PIK3CD,PIK3R1,PRKDC,RORC,STAT1,STAT2,STIM1,TFRC,TNFRSF4,TYK2,UNC119,ZAP70","Immunodeficiency 47","ATP6AP1"]
[null,null,"Immunodeficiency 43","B2M"]
[null,null,"Immunodeficiency 37","BCL10"]
[null,null,"Immunodeficiency 49","BCL11B"]
[null,null,"Immunodeficiency 11","CARD11"]
[null,null,"Immunodeficiency 25","CD247"]
[null,null,"Immunodeficiency 19","CD3D"]
[null,null,"Immunodeficiency 18, with SCID variant","CD3E"]
[null,null,"Immunodeficiency 17","CD3G"]
[null,null,"Immunodeficiency 8","CORO1A"]
[null,null,"Immunodeficiency 24","CTPS1"]
[null,null,"Immunodeficiency 34, mycobacteriosis, X-linked","CYBB"]
[null,null,"Immunodeficiency 40","DOCK2"]
[null,null,"Immunodeficiency 20","FCGR3A"]
[null,null,"Immunodeficiency 21","GATA2"]
[null,null,"Immunodeficiency 45","IFNAR2"]
[null,null,"Immunodeficiency 27A/B","IFNGR1"]
[null,null,"Immunodeficiency 28","IFNGR2"]
[null,null,"Immunodeficiency 15","IKBKB"]
[null,null,"Immunodeficiency 29, mycobacteriosis","IL12B"]
[null,null,"Immunodeficiency 30","IL12RB1"]
[null,null,"Immunodeficiency 41 with lymphoproliferation and autoimmunity","IL2RA"]
[null,null,"Immunodeficiency and craniosynostosis","IL6ST"]
[null,null,"Immunodeficiency 39","IRF7"]
[null,null,"Immunodeficiency 32A, mycobacteriosis, autosomal dominant","IRF8"]
[null,null,"Immunodeficiency 38","ISG15"]
[null,null,"Immunodeficiency 22","LCK"]
[null,null,"Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia","MAGT1"]
[null,null,"Immunodeficiency 12","MALT1"]
[null,null,"Immunodeficiency 50","MSN"]
[null,null,"Immunodeficiency 23","PGM3"]
[null,null,"Immunodeficiency 14","PIK3CD"]
[null,null,"Immunodeficiency 36","PIK3R1"]
[null,null,"Immunodeficiency 26, with or without neurologic abnormalities","PRKDC"]
[null,null,"Immunodeficiency 42","RORC"]
[null,null,"Immunodeficiency 31","STAT1"]
[null,null,"Immunodeficiency 44","STAT2"]
[null,null,"Immunodeficiency 10","STIM1"]
[null,null,"Immunodeficiency 46","TFRC"]
[null,null,"Immunodeficiency 16","TNFRSF4"]
[null,null,"Immunodeficiency 35","TYK2"]
[null,null,"Immunodeficiency 13","UNC119"]
[null,null,"Immunodeficiency 48","ZAP70"]
["Immunodeficiency complete panel","ACP5,ACTB,ADA,ADAM17,ADAR,ADRBK2,AICDA,AIRE,AK2,AP3B1,ATM,ATP6AP1,B2M,BCL10,BCL11B,BLNK,BLOC1S6,BTK,CARD11,CARD14,CARD9,CASP10,CASP8,CD19,CD247,CD27,CD3D,CD3E,CD3G,CD40,CD40LG,CD79A,CD79B,CD81,CD8A,CEBPE,CECR1,CFP,CHD7,CIITA,CLPB,COPA,CORO1A,CR2,CSF2RA,CSF3R,CTC1,CTLA4,CTPS1,CTSC,CXCR4,CYBA,CYBB,DCLRE1B,DCLRE1C,DKC1,DNMT3B,DOCK2,DOCK8,ELANE,EPG5,FADD,FAS,FASLG,FCGR3A,FCN3,FERMT3,FOXN1,FOXP3,FPR1,G6PC3,GATA2,GFI1,HAX1,ICOS,IFIH1,IFNAR2,IFNGR1,IFNGR2,IGLL1,IKBKB,IKZF1,IL10,IL10RA,IL10RB,IL12B,IL12RB1,IL17F,IL17RA,IL17RC,IL1RN,IL2,IL21,IL21R,IL2RA,IL2RG,IL36RN,IL7R,IRAK4,IRF7,IRF8,ISG15,ITCH,ITGB2,ITK,JAGN1,JAK3,LAMTOR2,LCK,LIG4,LPIN2,LRBA,LYST,MAGT1,MALT1,MAP3K14,MEFV,MOGS,MS4A1,MSN,MTHFD1,MVK,MYD88,NBN,NCF2,NCF4,NFAT5,NFKB1,NFKB2,NFKBIA,NHEJ1,NHP2,NLRC4,NLRP12,NLRP3,NOD2,NOP10,ORAI1,PARN,PGM3,PIK3CD,PIK3R1,PLCG2,PMS2,PNP,POLE,PRKDC,PSMB8,PSTPIP1,PTPRC,RAB27A,RAC2,RAG1,RAG2,RBCK1,RFX5,RFXANK,RFXAP,RHOH,RMRP,RNASEH2A,RNASEH2B,RNASEH2C,RORC,RTEL1,SAMHD1,SEMA3E,SH2D1A,SH3BP2,SLC29A3,SLC35C1,SLC37A4,SLC7A7,SMARCAL1,SP110,SPINK5,STAT1,STAT2,STAT3,STAT5B,STIM1,STK4,STX11,STXBP2,TAP1,TAP2,TAPBP,TAZ,TBK1,TCN2,TERC,TERT,TFRC,TINF2,TLR3,TMC6,TMC8,TMEM173,TNFRSF13B,TNFRSF13C,TNFRSF1A,TNFRSF4,TNFSF12,TPP2,TRAF3,TRAF3IP2,TREX1,TRNT1,TTC7A,TYK2,UNC119,UNC13D,UNG,VPS13B,VPS45,WAS,WIPF1,XIAP,ZAP70,ZBTB24","Spondyloenchondrodysplasia with immune dysregulation","ACP5"]
[null,null,"Baraitser-Winter syndrome 1","ACTB"]
[null,null,"Severe combined immunodeficiency due to ADA deficiency","ADA"]
[null,null,"Inflammatory skin and bowel disease, neonatal","ADAM17"]
[null,null,"Aicardi-goutieres syndrome 6","ADAR"]
[null,null,"Warts, hypogammaglobulinemia, infections, and myelokathexis 1","ADRBK2"]
[null,null,"Immunodeficiency with hyper IgM, type 2","AICDA"]
[null,null,"Autoimmune polyendocrinopathy syndrome type I","AIRE"]
[null,null,"Reticular dysgenesis","AK2"]
[null,null,"Hermansky-Pudlak syndrome 2","AP3B1"]
[null,null,"Ataxia Telangiectasia","ATM"]
[null,null,"Immunodeficiency 47","ATP6AP1"]
[null,null,"Immunodeficiency 43","B2M"]
[null,null,"Immunodeficiency 37","BCL10"]
[null,null,"Immunodeficiency 49","BCL11B"]
[null,null,"Agammaglobulinemia 4","BLNK"]
[null,null,"Hermansky-pudlak syndrome 9","BLOC1S6"]
[null,null,"Agammaglobulinemia, X-linked 1","BTK"]
[null,null,"Immunodeficiency 11","CARD11"]
[null,null,"Pityriasis rubra pilaris","CARD14"]
[null,null,"Candidiasis, familial, 2, autosomal recessive","CARD9"]
[null,null,"Autoimmune lymphoproliferative syndrome, type II","CASP10"]
[null,null,"Autoimmune lymphoproliferative syndrome, type IIB","CASP8"]
[null,null,"Immunodeficiency, common variable, 3","CD19"]
[null,null,"Immunodeficiency 25","CD247"]
[null,null,"Lymphoproliferative syndrome 2","CD27"]
[null,null,"Immunodeficiency 19","CD3D"]
[null,null,"Immunodeficiency 18","CD3E"]
[null,null," Immunodeficiency 17, CD3 gamma deficient","CD3G"]
[null,null,"Immunodeficiency with hyper-IgM, type 3","CD40"]
[null,null,"Immunodeficiency, X-linked, with hyper-IgM","CD40LG"]
[null,null,"Agammaglobulinemia 3, autosomal recessive","CD79A"]
[null,null,"Agammaglobulinemia 6","CD79B"]
[null,null,"Immunodeficiency, common variable, 6","CD81"]
[null,null,"Cd8 deficiency, familial","CD8A"]
[null,null,"Specific granule deficiency","CEBPE"]
[null,null,"Polyarteritis nodosa, childhood-onset","CECR1"]
[null,null,"Properdin deficiency, X-linked","CFP"]
[null,null,"CHARGE syndrome 1","CHD7"]
[null,null,"Bare lymphocyte syndrome type II, complementation group A","CIITA"]
[null,null,"3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia","CLPB"]
[null,null,"Hereditary autoimmune-mediated lung disease and arthritis","COPA"]
[null,null,"Immunodeficiency 8","CORO1A"]
[null,null,"Immunodeficiency, common variable, 7","CR2"]
[null,null,"Surfactant metabolism dysfunction, pulmonary, 4","CSF2RA"]
[null,null,"Neutropenia, severe congenital, 7, autosomal recessive","CSF3R"]
[null,null,"Cerebroretinal microangiopathy with calcifications and cysts 1","CTC1"]
[null,null,"Autoimmune lymphoproliferative syndrome, type V","CTLA4"]
[null,null,"Immunodeficiency 24","CTPS1"]
[null,null,"Papillon-Lefèvre syndrome","CTSC"]
[null,null,"Warts, hypogammaglobulinemia, infections, and myelokathexis 2","CXCR4"]
[null,null,"Chronic granulomatous disease, autosomal, due to deficiency of CYBA","CYBA"]
[null,null,"Immunodeficiency 34, mycobacteriosis, X-linked","CYBB"]
[null,null,"Dyskeratosis congenita like_DCLRE1B","DCLRE1B"]
[null,null,"Severe combined immunodeficiency, Athabascan type","DCLRE1C"]
[null,null,"Dyskeratosis congenita, X-linked","DKC1"]
[null,null,"Immunodeficiency-centromeric instability-facial anomalies syndrome 1","DNMT3B"]
[null,null,"Immunodeficiency 40","DOCK2"]
[null,null,"Hyper-IgE recurrent infection syndrome, autosomal recessive","DOCK8"]
[null,null,"Neutropenia, severe congenital 1, autosomal dominant","ELANE"]
[null,null,"Vici syndrome","EPG5"]
[null,null,"Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations","FADD"]
[null,null,"Autoimmune lymphoproliferative syndrome, type 1a","FAS"]
[null,null,"Autoimmune lymphoproliferative syndrome, type IB","FASLG"]
[null,null,"Immunodeficiency 20","FCGR3A"]
[null,null,"Immunodeficiency due to ficolin 3 deficiency","FCN3"]
[null,null,"Leukocyte adhesion deficiency, type III","FERMT3"]
[null,null,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy","FOXN1"]
[null,null,"Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked","FOXP3"]
[null,null,"Immunodeficiency_FPR1","FPR1"]
[null,null,"Neutropenia, severe congenital 4, autosomal recessive","G6PC3"]
[null,null,"Immunodeficiency 21","GATA2"]
[null,null,"Neutropenia, severe congenital 2, autosomal dominant","GFI1"]
[null,null,"Neutropenia, severe congenital 3, autosomal recessive","HAX1"]
[null,null,"Immunodeficiency, common variable, 1","ICOS"]
[null,null,"Singleton-Merten syndrome 1","IFIH1"]
[null,null,"Immunodeficiency 45","IFNAR2"]
[null,null,"Immunodeficiency 27A/B","IFNGR1"]
[null,null,"Immunodeficiency 28","IFNGR2"]
[null,null,"Agammaglobulinemia 2","IGLL1"]
[null,null,"Immunodeficiency 15","IKBKB"]
[null,null,"Immunodeficiency, common variable, 13","IKZF1"]
[null,null,"Immunodeficiency_IL10","IL10"]
[null,null,"Inflammatory bowel disease 28, early onset, autosomal recessive","IL10RA"]
[null,null,"Inflammatory bowel disease 25, early onset, autosomal recessive","IL10RB"]
[null,null,"Immunodeficiency 29, mycobacteriosis","IL12B"]
[null,null,"Immunodeficiency 30","IL12RB1"]
[null,null,"Candidiasis, familial, 6, autosomal dominant","IL17F"]
[null,null,"Candidiasis, familial, 5, autosomal recessive / Immunodeficiency 51","IL17RA"]
[null,null,"Candidiasis, familial, 9","IL17RC"]
[null,null,"Interleukin 1 receptor antagonist deficiency","IL1RN"]
[null,null,"Severe combined immunodeficiency due to IL2 deficiency","IL2"]
[null,null,"Immunodeficiency, common variable, 11","IL21"]
[null,null,"Immunodeficiency, primary, autosomal recessive, IL21R-related","IL21R"]
[null,null,"Immunodeficiency 41 with lymphoproliferation and autoimmunity","IL2RA"]
[null,null,"Severe combined immunodeficiency, X-linked","IL2RG"]
[null,null,"Psoriasis 14, generalized pustular","IL36RN"]
[null,null,"Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type","IL7R"]
[null,null,"IRAK4 deficiency","IRAK4"]
[null,null,"Immunodeficiency 39","IRF7"]
[null,null,"Immunodeficiency 32A, mycobacteriosis, autosomal dominant","IRF8"]
[null,null,"Immunodeficiency 38","ISG15"]
[null,null,"Autoimmune disease, syndromic multisystem","ITCH"]
[null,null,"Leukocyte adhesion deficiency","ITGB2"]
[null,null,"Lymphoproliferative syndrome 1","ITK"]
[null,null,"Neutropenia, severe congenital, 6, autosomal recessive","JAGN1"]
[null,null,"SCID, autosomal recessive, T-negative/B-positive type","JAK3"]
[null,null,"Immunodeficiency due to defect in MAPBP-interacting protein","LAMTOR2"]
[null,null,"Immunodeficiency 22","LCK"]
[null,null,"LIG4 syndrome","LIG4"]
[null,null,"Majeed syndrome","LPIN2"]
[null,null,"Immunodeficiency, common variable, 8, with autoimmunity","LRBA"]
[null,null,"Chediak-Higashi syndrome","LYST"]
[null,null,"Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia","MAGT1"]
[null,null,"Immunodeficiency 12","MALT1"]
[null,null,"Immunodeficiency_MAP3K14","MAP3K14"]
[null,null,"Familial Mediterranean fever AD/AR","MEFV"]
[null,null,"Congenital disorder of glycosylation, type IIb","MOGS"]
[null,null,"Immunodeficiency, common variable, 5","MS4A1"]
[null,null,"Immunodeficiency 50","MSN"]
[null,null,"Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia","MTHFD1"]
[null,null,"Hyper-IgD syndrome","MVK"]
[null,null,"Pyogenic bacterial infections, recurrent, due to MYD88 deficiency","MYD88"]
[null,null,"Nijmegen breakage syndrome","NBN"]
[null,null,"Chronic granulomatous disease due to deficiency of NCF-2","NCF2"]
[null,null,"Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III","NCF4"]
[null,null,"Immunodeficiency_NFAT5","NFAT5"]
[null,null,"Immunodeficiency, common variable, 12","NFKB1"]
[null,null,"Immunodeficiency, common variable, 10","NFKB2"]
[null,null,"Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency","NFKBIA"]
[null,null,"Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation","NHEJ1"]
[null,null,"Dyskeratosis congenita, autosomal recessive 2","NHP2"]
[null,null,"Autoinflammation with infantile enterocolitis","NLRC4"]
[null,null,"Familial cold autoinflammatory syndrome 2","NLRP12"]
[null,null,"Muckle-Wells syndrome","NLRP3"]
[null,null,"Blau syndrome","NOD2"]
[null,null,"Dyskeratosis congenita, autosomal recessive 1","NOP10"]
[null,null,"Immunodeficiency, common variable, 9","ORAI1"]
[null,null,"Dyskeratosis congenita, autosomal recessive 6","PARN"]
[null,null,"Immunodeficiency 23","PGM3"]
[null,null,"Immunodeficiency 14","PIK3CD"]
[null,null,"Immunodeficiency 36","PIK3R1"]
[null,null,"Autoinflammation, antibody deficiency, and immune dysregulation syndrome","PLCG2"]
[null,null,"Colorectal cancer, hereditary nonpolyposis, type 4","PMS2"]
[null,null,"Immunodeficiency due to purine nucleoside phosphorylase deficiency","PNP"]
[null,null,"FILS syndrome","POLE"]
[null,null,"Immunodeficiency 26, with or without neurologic abnormalities","PRKDC"]
[null,null,"Autoinflammation, lipodystrophy, and dermatosis syndrome","PSMB8"]
[null,null,"Pyogenic sterile arthritis, pyoderma gangrenosum, and acne","PSTPIP1"]
[null,null,"Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive","PTPRC"]
[null,null,"Griscelli syndrome, type 2","RAB27A"]
[null,null,"Neutrophil immunodeficiency syndrome","RAC2"]
[null,null,"Severe combined immunodeficiency, B cell-negative 1","RAG1"]
[null,null,"Severe combined immunodeficiency, B cell-negative 2","RAG2"]
[null,null,"Polyglucosan body myopathy 1 with or without immunodeficiency","RBCK1"]
[null,null,"Bare lymphocyte syndrome, type II, complementation group C","RFX5"]
[null,null,"MHC class II deficiency, complementation group B","RFXANK"]
[null,null,"Bare lymphocyte syndrome, type II, complementation group D","RFXAP"]
[null,null,"Immunodeficiency_RHOH","RHOH"]
[null,null,"Metaphyseal dysplasia without hypotrichosis","RMRP"]
[null,null,"Aicardi-Goutieres syndrome 4","RNASEH2A"]
[null,null,"Aicardi-Goutieres syndrome 2","RNASEH2B"]
[null,null,"Aicardi-Goutieres syndrome 3","RNASEH2C"]
[null,null,"Immunodeficiency 42","RORC"]
[null,null,"Dyskeratosis congenita, autosomal recessive 5, autosomal dominant 4","RTEL1"]
[null,null,"Aicardi-Goutieres syndrome 5","SAMHD1"]
[null,null,"CHARGE syndrome 2","SEMA3E"]
[null,null,"Lymphoproliferative syndrome, X-linked, 1","SH2D1A"]
[null,null,"Cherubism","SH3BP2"]
[null,null,"Histiocytosis-lymphadenopathy plus syndrome","SLC29A3"]
[null,null,"Congenital disorder of glycosylation, type IIc","SLC35C1"]
[null,null,"Glycogen storage disease Ib, Ic","SLC37A4"]
[null,null,"Lysinuric protein intolerance","SLC7A7"]
[null,null,"Schimke immunoosseous dysplasia","SMARCAL1"]
[null,null,"Hepatic venoocclusive disease with immunodeficiency","SP110"]
[null,null,"Netherton syndrome","SPINK5"]
[null,null,"Immunodeficiency 31","STAT1"]
[null,null,"Immunodeficiency 44","STAT2"]
[null,null,"Hyper-IgE recurrent infection syndrome","STAT3"]
[null,null,"Growth hormone insensitivity with immunodeficiency","STAT5B"]
[null,null,"Immunodeficiency 10","STIM1"]
[null,null,"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations","STK4"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 4","STX11"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 5","STXBP2"]
[null,null,"Bare lymphocyte syndrome, type I","TAP1"]
[null,null,"Bare lymphocyte syndrome, type I, due to TAP2 deficiency","TAP2"]
[null,null,"Bare lymphocyte syndrome 1B","TAPBP"]
[null,null,"3-Methylglutaconic aciduria (other types) II","TAZ"]
[null,null,"Frontotemporal dementia_TBK1","TBK1"]
[null,null,"Transcobalamin II deficiency","TCN2"]
[null,null,"Dyskeratosis congenita, autosomal dominant 1","TERC"]
[null,null,"Dyskeratosis congenita, autosomal recessive 4, autosomal dominant 2","TERT"]
[null,null,"Immunodeficiency 46","TFRC"]
[null,null,"Dyskeratosis congenita, autosomal dominant 3","TINF2"]
[null,null,"Age related macular degeneration","TLR3"]
[null,null,"Epidermodysplasia verruciformis_TMC6","TMC6"]
[null,null,"Epidermodysplasia verruciformis_TMC8","TMC8"]
[null,null,"STING-associated vasculopathy, infantile-onset","TMEM173"]
[null,null,"Immunodeficiency, common variable, 2","TNFRSF13B"]
[null,null,"Immunodeficiency, common variable, 4","TNFRSF13C"]
[null,null,"Periodic fever, familial","TNFRSF1A"]
[null,null,"Immunodeficiency 16","TNFRSF4"]
[null,null,"Common variable immune deficiency_TNFSF12","TNFSF12"]
[null,null,"Immunodeficiency_TPP2","TPP2"]
[null,null,"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5","TRAF3"]
[null,null,"Candidiasis, familial, 8","TRAF3IP2"]
[null,null,"Aicardi-Goutieres syndrome 1","TREX1"]
[null,null,"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay","TRNT1"]
[null,null,"Gastrointestinal defects and immunodeficiency syndrome","TTC7A"]
[null,null,"Immunodeficiency 35","TYK2"]
[null,null,"Immunodeficiency 13","UNC119"]
[null,null,"Hemophagocytic lymphohistiocytosis, familial, 3","UNC13D"]
[null,null,"Immunodeficiency with hyper IgM, type 5","UNG"]
[null,null,"Cohen syndrome","VPS13B"]
[null,null,"Neutropenia, severe congenital, 5, autosomal recessive","VPS45"]
[null,null,"Wiskott Aldrich syndrome","WAS"]
[null,null,"Wiskott-Aldrich syndrome 2","WIPF1"]
[null,null,"Lymphoproliferative syndrome, X-linked, 2","XIAP"]
[null,null,"Immunodeficiency 48","ZAP70"]
[null,null,"Immunodeficiency-centromeric instability-facial anomalies syndrome-2","ZBTB24"]
["Immunodeficiency with hyper IgM","AICDA,CD40,CD40LG,UNG","Immunodeficiency with hyper IgM, type 2","AICDA"]
[null,null,"Immunodeficiency with hyper-IgM, type 3","CD40"]
[null,null,"Immunodeficiency with hyper IgM, type 1","CD40LG"]
[null,null,"Immunodeficiency with hyper IgM, type 5","UNG"]
["Immunodeficiency-centromeric instability-facial anomalies syndrome","CDCA7,DNMT3B,HELLS,ZBTB24","Immunodeficiency-centromeric instability-facial anomalies syndrome 3","CDCA7"]
[null,null,"Immunodeficiency-centromeric instability-facial anomalies syndrome 1","DNMT3B"]
[null,null,"Immunodeficiency-centromeric instability-facial anomalies syndrome 4","HELLS"]
[null,null,"Immunodeficiency-centromeric instability-facial anomalies syndrome 2","ZBTB24"]
["Immunodeficiency, common variable","CD19,CD81,CR2,ICOS,IKZF1,IL21,LRBA,MS4A1,NFKB1,NFKB2,ORAI1,TNFRSF13B,TNFRSF13C,TNFSF12","Immunodeficiency, common variable, 3","CD19"]
[null,null,"Immunodeficiency, common variable, 6","CD81"]
[null,null,"Immunodeficiency, common variable, 7","CR2"]
[null,null,"Immunodeficiency, common variable, 1","ICOS"]
[null,null,"Immunodeficiency, common variable, 13","IKZF1"]
[null,null,"Immunodeficiency, common variable, 11","IL21"]
[null,null,"Immunodeficiency, common variable, 8, with autoimmunity","LRBA"]
[null,null,"Immunodeficiency, common variable, 5","MS4A1"]
[null,null,"Immunodeficiency, common variable, 12","NFKB1"]
[null,null,"Immunodeficiency, common variable, 10","NFKB2"]
[null,null,"Immunodeficiency, common variable, 9","ORAI1"]
[null,null,"Immunodeficiency, common variable, 2","TNFRSF13B"]
[null,null,"Immunodeficiency, common variable, 4","TNFRSF13C"]
[null,null,"Common variable immune deficiency_TNFSF12","TNFSF12"]
["Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked","FOXP3","Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked","FOXP3"]
["IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES","EXTL3","IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES","EXTL3"]
["Inclusion body myopathy / myositis","ATP7A,BAG3,DES,GNE,HNRNPA1,MYH2,VCP","Inclusion body myopathy / myositis ATP7A","ATP7A"]
[null,null,"Myopathy, myofibrillar, 6","BAG3"]
[null,null,"Inclusion body myopathy / myositis DES","DES"]
[null,null,"Inclusion body myopathy, autosomal recessive, 2 (Nonaka)","GNE"]
[null,null,"Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia 3","HNRNPA1"]
[null,null,"Inclusion body myopathy-3","MYH2"]
[null,null,"Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1","VCP"]
["Infantile-onset multisystem neurologic, endocrine, and pancreatic disease","PTRH2","Infantile-onset multisystem neurologic, endocrine, and pancreatic disease","PTRH2"]
["Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations","FADD","Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations","FADD"]
["Inflammatory bowel disease","IL10RA,IL10RB","Inflammatory bowel disease 28, early onset, autosomal recessive","IL10RA"]
[null,null,"Inflammatory bowel disease 25, early onset, autosomal recessive","IL10RB"]
["Insulin resistance, severe, digenic","PPARG,PPP1R3A","Insulin resistance, severe, digenic A","PPARG"]
[null,null,"Insulin resistance, severe, digenic B","PPP1R3A"]
["Intellectual disability","ACSL4,ADAT3,ADNP,AGTR2,AHDC1,ANK3,AP1S2,ARHGEF6,ARID1A,ARID1B,ARX,ASH1L,ATP6AP2,AUTS2,BRWD3,CACNG2,CASK,CC2D1A,CDH15,CHAMP1,CIC,CLCN4,CLIC2,CNKSR2,COL4A3BP,CRADD,CRBN,CTCF,CTNNB1,CUL4B,DDX3X,DEAF1,DLG3,DOCK8,DPP6,DYNC1H1,DYRK1A,EDC3,EEF1A2,EIF2S3,ELP2,EPB41L1,FBXO31,FGD1,FMN2,FOXP1,FRMPD4,FTSJ1,GATAD2B,GDI1,GNB1,GPT2,GRIA3,GRIK2,GRIN1,GRIN2B,HCFC1,HERC2,HIVEP2,HNMT,HNRNPH2,HSD17B10,HUWE1,IGBP1,IL1RAPL1,IMPA1,IQSEC2,KAT6A,KCNQ5,KDM5B,KDM5C,KIAA1033,KIAA2022,KIF1A,KIF4A,KIRREL3,KLHL15,KPTN,LINS,LMAN2L,MAN1B1,MBD5,MBOAT7,MECP2,MED13L,MED23,MEF2C,METTL23,MID2,MYT1L,NAA15,NDST1,NLGN4X,NONO,NSUN2,NUS1,OGT,PACS1,PAK3,PGAP1,PHF6,PHF8,PIGG,POGZ,PPM1D,PPP2R1A,PPP2R5D,PQBP1,PRPS1,PRSS12,PURA,PUS3,RAB39B,RAB40AL,RAC1,RBMX,RLIM,RPL10,RPS6KA3,SETBP1,SETD5,SHROOM4,SLC6A17,SLC9A6,SMARCA4,SMARCB1,SMS,SOX11,SOX3,ST3GAL3,STAG1,STARD9,SUV420H1,SYNGAP1,SYP,TAF1,TAF2,TBL1XR1,TECR,THOC2,TNIK,TRAPPC9,TRIO,TRIP12,TSPAN7,TTI2,TUSC3,UBE2A,UPF3B,USP27X,USP9X,YY1,ZBTB18,ZC3H14,ZDHHC15,ZDHHC9,ZMYND11,ZNF41,ZNF711,ZNF81","Mental retardation, X-linked 63","ACSL4"]
[null,null,"Mental retardation, autosomal recessive 36","ADAT3"]
[null,null,"Mental retardation, autosomal dominant 28 /HELSMOORTEL-VAN DER AA SYNDROME","ADNP"]
[null,null,"Mental retardation, X-linked 88","AGTR2"]
[null,null,"Mental retardation, autosomal dominant 25 / XIA-GIBBS","AHDC1"]
[null,null,"Mental retardation, autosomal recessive 37","ANK3"]
[null,null,"Mental retardation, X-linked syndromic 5","AP1S2"]
[null,null,"Mental retardation, X-linked 46","ARHGEF6"]
[null,null,"Mental retardation, autosomal dominant 14","ARID1A"]
[null,null,"Mental retardation, autosomal dominant 12","ARID1B"]
[null,null,"Mental retardation, X-linked 29 and others","ARX"]
[null,null,"Mental retardation, autosomal dominant 52","ASH1L"]
[null,null,"Mental retardation, X-linked, syndromic, Hedera type","ATP6AP2"]
[null,null,"Mental retardation, autosomal dominant 26","AUTS2"]
[null,null,"Mental retardation, X-linked 93","BRWD3"]
[null,null,"Mental retardation, autosomal dominant 10","CACNG2"]
[null,null,"Mental retardation, X-linked syndromic","CASK"]
[null,null,"Mental retardation, autosomal recessive 3","CC2D1A"]
[null,null,"Mental retardation, autosomal dominant 3","CDH15"]
[null,null,"Mental retardation, autosomal dominant 40","CHAMP1"]
[null,null,"Mental retardation, autosomal dominant 45","CIC"]
[null,null,"Mental retardation, X-linked 49/15","CLCN4"]
[null,null,"Mental retardation, X-linked, syndromic 32","CLIC2"]
[null,null,"Mental retardation, X-linked, syndromic, Houge type","CNKSR2"]
[null,null,"Mental retardation, autosomal dominant 34","COL4A3BP"]
[null,null,"Mental retardation, autosomal recessive 34","CRADD"]
[null,null,"Mental retardation, autosomal recessive 2","CRBN"]
[null,null,"Mental retardation, autosomal dominant 21","CTCF"]
[null,null,"Mental retardation, autosomal dominant 19","CTNNB1"]
[null,null,"Mental retardation, X-linked, syndromic 15 (Cabezas type)","CUL4B"]
[null,null,"Mental retardation, X-linked 102","DDX3X"]
[null,null,"Mental retardation, autosomal dominant 24","DEAF1"]
[null,null,"Mental retardation, X-linked 90","DLG3"]
[null,null,"Mental retardation, autosomal dominant 2","DOCK8"]
[null,null,"Mental retardation, autosomal dominant 33","DPP6"]
[null,null,"Mental retardation, autosomal dominant 13","DYNC1H1"]
[null,null,"Mental retardation, autosomal dominant 7","DYRK1A"]
[null,null,"Mental retardation, autosomal recessive 50","EDC3"]
[null,null,"Mental retardation, autosomal dominant 38","EEF1A2"]
[null,null,"Mental retardation, X-linked syndromic (MEHMO)","EIF2S3"]
[null,null,"Mental retardation, autosomal recessive 58","ELP2"]
[null,null,"Mental retardation, autosomal dominant 11","EPB41L1"]
[null,null,"Mental retardation, autosomal recessive 45","FBXO31"]
[null,null,"Mental retardation, X-linked syndromic 16 / Aarskog-Scott syndrome","FGD1"]
[null,null,"Mental retardation, autosomal recessive 47","FMN2"]
[null,null,"Mental retardation with language impairment and autistic features","FOXP1"]
[null,null,"Mental retardation, X-linked 104","FRMPD4"]
[null,null,"Mental retardation, X-linked 9","FTSJ1"]
[null,null,"Mental retardation, autosomal dominant 18","GATAD2B"]
[null,null,"Mental retardation, X-linked 41","GDI1"]
[null,null,"Mental retardation, autosomal dominant 42","GNB1"]
[null,null,"Mental retardation, autosomal recessive 49","GPT2"]
[null,null,"Mental retardation, X-linked 94","GRIA3"]
[null,null,"Mental retardation, autosomal recessive, 6","GRIK2"]
[null,null,"Mental retardation, autosomal dominant 8","GRIN1"]
[null,null,"Mental retardation, autosomal dominant 6","GRIN2B"]
[null,null,"Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )","HCFC1"]
[null,null,"Mental retardation, autosomal recessive 38","HERC2"]
[null,null,"Mental retardation, autosomal dominant 43","HIVEP2"]
[null,null,"Mental retardation, autosomal recessive 51","HNMT"]
[null,null,"Mental retardation, X-linked, syndromic, Bain type","HNRNPH2"]
[null,null,"Mental retardation, X-linked syndromic 10","HSD17B10"]
[null,null,"Mental retardation, X-linked syndromic, Turner type","HUWE1"]
[null,null,"Mental retardation, X-linked syndromic 28","IGBP1"]
[null,null,"Mental retardation, X-linked 21/34","IL1RAPL1"]
[null,null,"Mental retardation, autosomal recessive 59","IMPA1"]
[null,null,"Mental retardation, X-linked 1","IQSEC2"]
[null,null,"Mental retardation, autosomal dominant 32","KAT6A"]
[null,null,"Mental retardation, autosomal dominant 46","KCNQ5"]
[null,null,"Mental retardation, autosomal recessive 65","KDM5B"]
[null,null,"Mental retardation, X-linked, syndromic, Claes-Jensen type","KDM5C"]
[null,null,"Mental retardation, autosomal recessive 43","KIAA1033"]
[null,null,"Mental retardation, X-linked 98","KIAA2022"]
[null,null,"Mental retardation, autosomal dominant 9","KIF1A"]
[null,null,"Mental retardation, X-linked 100","KIF4A"]
[null,null,"Mental retardation, autosomal dominant 4","KIRREL3"]
[null,null,"Mental retardation, X-linked 103","KLHL15"]
[null,null,"Mental retardation, autosomal recessive 41","KPTN"]
[null,null,"Mental retardation, autosomal recessive 27","LINS"]
[null,null,"Mental retardation, autosomal recessive, 52","LMAN2L"]
[null,null,"Mental retardation, autosomal recessive 15","MAN1B1"]
[null,null,"Mental retardation, autosomal dominant 1","MBD5"]
[null,null,"Mental retardation, autosomal recessive 57","MBOAT7"]
[null,null,"Mental retardation, X-linked syndromic, Lubs type","MECP2"]
[null,null,"Intellectual disability_MED13L","MED13L"]
[null,null,"Mental retardation, autosomal recessive 18","MED23"]
[null,null,"Mental retardation, autosomal dominant 20","MEF2C"]
[null,null,"Mental retardation, autosomal recessive 44","METTL23"]
[null,null,"Mental retardation, X-linked 101","MID2"]
[null,null,"Mental retardation, autosomal dominant 39","MYT1L"]
[null,null,"Mental retardation, autosomal dominant 50","NAA15"]
[null,null,"Mental retardation, autosomal recessive 46","NDST1"]
[null,null,"Mental retardation, X-linked","NLGN4X"]
[null,null,"Mental retardation, X-linked, syndromic 34","NONO"]
[null,null,"Mental retardation, autosomal recessive 5","NSUN2"]
[null,null,"Mental retardation, autosomal dominant 55 with seizures","NUS1"]
[null,null,"Mental retardation, X-linked 106","OGT"]
[null,null,"Mental retardation, autosomal dominant 17 / Schuurs-Hoeijmakers syndrome","PACS1"]
[null,null,"Mental retardation, X-linked 30/47","PAK3"]
[null,null,"Mental retardation, autosomal recessive 42","PGAP1"]
[null,null,"Borjeson-Forssman-Lehmann syndrome","PHF6"]
[null,null,"Mental retardation syndrome, X-linked, Siderius type","PHF8"]
[null,null,"Mental retardation, autosomal recessive 53","PIGG"]
[null,null,"Mental retardation, autosomal dominant 37 / White-Sutton syndrome","POGZ"]
[null,null,"Mental retardation, autosomal dominant","PPM1D"]
[null,null,"Mental retardation, autosomal dominant 36","PPP2R1A"]
[null,null,"Mental retardation, autosomal dominant 35","PPP2R5D"]
[null,null,"Mental retardation, X-linked 55","PQBP1"]
[null,null,"Mental retardation, X-linked syndromic 18 / Arts syndrome","PRPS1"]
[null,null,"Mental retardation, autosomal recessive 1","PRSS12"]
[null,null,"Mental retardation, autosomal dominant 31","PURA"]
[null,null,"Mental retardation, autosomal recessive 55","PUS3"]
[null,null,"Mental retardation, X-linked 72","RAB39B"]
[null,null,"Mental retardation, X-linked, syndromic, Martin-Probst type","RAB40AL"]
[null,null,"Mental retardation, autosomal dominant 48","RAC1"]
[null,null,"Mental retardation, X-linked, syndromic 11, Shashi type","RBMX"]
[null,null,"Mental retardation, X-linked 61","RLIM"]
[null,null,"Mental Retardation, X-Linked, Syndromic, 35","RPL10"]
[null,null,"Mental retardation, X-linked 19","RPS6KA3"]
[null,null,"Mental retardation, autosomal dominant 29","SETBP1"]
[null,null,"Mental retardation, autosomal dominant 23","SETD5"]
[null,null,"Stocco dos Santos X-linked mental retardation syndrome","SHROOM4"]
[null,null,"Mental retardation, autosomal recessive 48","SLC6A17"]
[null,null,"Mental retardation, X-linked syndromic, Christianson type","SLC9A6"]
[null,null,"Mental retardation, autosomal dominant 16 / Coffin Siris","SMARCA4"]
[null,null,"Mental retardation, autosomal dominant 15 / Coffin Siris","SMARCB1"]
[null,null,"Mental retardation, X-linked, Snyder-Robinson type","SMS"]
[null,null,"Mental retardation, autosomal dominant, 27","SOX11"]
[null,null,"Mental retardation, X-linked, with isolated growth hormone deficiency","SOX3"]
[null,null,"Mental retardation, autosomal recessive 12","ST3GAL3"]
[null,null,"Mental retardation, autosomal dominant 47","STAG1"]
[null,null,"Intellectual disability_STARD9","STARD9"]
[null,null,"Mental retardation, autosomal dominant 51","SUV420H1"]
[null,null,"Mental retardation, autosomal dominant 5","SYNGAP1"]
[null,null,"Mental retardation, X-linked 96","SYP"]
[null,null,"Mental retardation, X-linked, syndromic 33","TAF1"]
[null,null,"Mental retardation, autosomal recessive 40","TAF2"]
[null,null,"Mental retardation, autosomal dominant 41 (Pierpont syndrome)","TBL1XR1"]
[null,null,"Mental retardation, autosomal recessive 14","TECR"]
[null,null,"Mental retardation, X-linked 12/35","THOC2"]
[null,null,"Mental retardation, autosomal recessive 54","TNIK"]
[null,null,"Mental retardation, autosomal recessive 13","TRAPPC9"]
[null,null,"Mental retardation, autosomal dominant 44","TRIO"]
[null,null,"Mental retardation, autosomal dominant 49","TRIP12"]
[null,null,"Mental retardation, X-linked 58","TSPAN7"]
[null,null,"Mental retardation, autosomal recessive 39","TTI2"]
[null,null,"Mental retardation, autosomal recessive 7","TUSC3"]
[null,null,"Mental retardation, X-linked syndromic, Nascimento-type","UBE2A"]
[null,null,"Mental retardation, X-linked, syndromic 14","UPF3B"]
[null,null,"Mental retardation, X-linked 105","USP27X"]
[null,null,"Mental retardation, X-linked 99","USP9X"]
[null,null,"Gabriele-de Vries syndrome ","YY1"]
[null,null,"Mental retardation, autosomal dominant 22","ZBTB18"]
[null,null,"Mental retardation, autosomal recessive 56","ZC3H14"]
[null,null,"Mental retardation, X-linked 91","ZDHHC15"]
[null,null,"Mental retardation, X-linked syndromic, Raymond type","ZDHHC9"]
[null,null,"Mental retardation, autosomal dominant 30","ZMYND11"]
[null,null,"Mental retardation, X-linked 89","ZNF41"]
[null,null,"Mental retardation, X-linked 97","ZNF711"]
[null,null,"Mental retardation, X-linked 45","ZNF81"]
[]
["Intellectual disability, X linked","ACSL4,AGTR2,AP1S2,ARHGEF6,ARX,ATP6AP2,BRWD3,CASK,CLCN4,CLIC2,CNKSR2,CUL4B,DDX3X,DLG3,EIF2S3,FGD1,FRMPD4,FTSJ1,GDI1,GRIA3,HCFC1,HNRNPH2,HSD17B10,HUWE1,IGBP1,IL1RAPL1,IQSEC2,KDM5C,KIAA2022,KIF4A,KLHL15,MECP2,MID2,NLGN4X,NONO,OGT,PAK3,PHF6,PHF8,PQBP1,PRPS1,RAB39B,RAB40AL,RBMX,RLIM,RPL10,RPS6KA3,SHROOM4,SLC9A6,SMS,SOX3,SYP,TAF1,THOC2,TSPAN7,UBE2A,UPF3B,USP27X,USP9X,ZDHHC15,ZDHHC9,ZNF41,ZNF711,ZNF81","Mental retardation, X-linked 63","ACSL4"]
[null,null,"Mental retardation, X-linked 88","AGTR2"]
[null,null,"Mental retardation, X-linked syndromic 5","AP1S2"]
[null,null,"Mental retardation, X-linked 46","ARHGEF6"]
[null,null,"Mental retardation, X-linked 29 and others","ARX"]
[null,null,"Mental retardation, X-linked, syndromic, Hedera type","ATP6AP2"]
[null,null,"Mental retardation, X-linked 93","BRWD3"]
[null,null,"Mental retardation, X-linked syndromic","CASK"]
[null,null,"Mental retardation, X-linked 49/15","CLCN4"]
[null,null,"Mental retardation, X-linked, syndromic 32","CLIC2"]
[null,null,"Mental retardation, X-linked, syndromic, Houge type","CNKSR2"]
[null,null,"Mental retardation, X-linked, syndromic 15 (Cabezas type)","CUL4B"]
[null,null,"Mental retardation, X-linked 102","DDX3X"]
[null,null,"Mental retardation, X-linked 90","DLG3"]
[null,null,"Mental retardation, X-linked syndromic (MEHMO)","EIF2S3"]
[null,null,"Mental retardation, X-linked syndromic 16 / Aarskog-Scott syndrome","FGD1"]
[null,null,"Mental retardation, X-linked 104","FRMPD4"]
[null,null,"Mental retardation, X-linked 9","FTSJ1"]
[null,null,"Mental retardation, X-linked 41","GDI1"]
[null,null,"Mental retardation, X-linked 94","GRIA3"]
[null,null,"Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )","HCFC1"]
[null,null,"Mental retardation, X-linked, syndromic, Bain type","HNRNPH2"]
[null,null,"Mental retardation, X-linked syndromic 10","HSD17B10"]
[null,null,"Mental retardation, X-linked syndromic, Turner type","HUWE1"]
[null,null,"Mental retardation, X-linked syndromic 28","IGBP1"]
[null,null,"Mental retardation, X-linked 21/34","IL1RAPL1"]
[null,null,"Mental retardation, X-linked 1","IQSEC2"]
[null,null,"Mental retardation, X-linked, syndromic, Claes-Jensen type","KDM5C"]
[null,null,"Mental retardation, X-linked 98","KIAA2022"]
[null,null,"Mental retardation, X-linked 100","KIF4A"]
[null,null,"Mental retardation, X-linked 103","KLHL15"]
[null,null,"Mental retardation, X-linked syndromic, Lubs type","MECP2"]
[null,null,"Mental retardation, X-linked 101","MID2"]
[null,null,"Mental retardation, X-linked","NLGN4X"]
[null,null,"Mental retardation, X-linked, syndromic 34","NONO"]
[null,null,"Mental retardation, X-linked 106","OGT"]
[null,null,"Mental retardation, X-linked 30/47","PAK3"]
[null,null,"Borjeson-Forssman-Lehmann syndrome","PHF6"]
[null,null,"Mental retardation syndrome, X-linked, Siderius type","PHF8"]
[null,null,"Mental retardation, X-linked 55","PQBP1"]
[null,null,"Mental retardation, X-linked syndromic 18 / Arts syndrome","PRPS1"]
[null,null,"Mental retardation, X-linked 72","RAB39B"]
[null,null,"Mental retardation, X-linked, syndromic, Martin-Probst type","RAB40AL"]
[null,null,"Mental retardation, X-linked, syndromic 11, Shashi type","RBMX"]
[null,null,"Mental retardation, X-linked 61","RLIM"]
[null,null,"Mental Retardation, X-Linked, Syndromic, 35","RPL10"]
[null,null,"Mental retardation, X-linked 19","RPS6KA3"]
[null,null,"Stocco dos Santos X-linked mental retardation syndrome","SHROOM4"]
[null,null,"Mental retardation, X-linked syndromic, Christianson type","SLC9A6"]
[null,null,"Mental retardation, X-linked, Snyder-Robinson type","SMS"]
[null,null,"Mental retardation, X-linked, with isolated growth hormone deficiency","SOX3"]
[null,null,"Mental retardation, X-linked 96","SYP"]
[null,null,"Mental retardation, X-linked, syndromic 33","TAF1"]
[null,null,"Mental retardation, X-linked 12/35","THOC2"]
[null,null,"Mental retardation, X-linked 58","TSPAN7"]
[null,null,"Mental retardation, X-linked syndromic, Nascimento-type","UBE2A"]
[null,null,"Mental retardation, X-linked, syndromic 14","UPF3B"]
[null,null,"Mental retardation, X-linked 105","USP27X"]
[null,null,"Mental retardation, X-linked 99","USP9X"]
[null,null,"Mental retardation, X-linked 91","ZDHHC15"]
[null,null,"Mental retardation, X-linked syndromic, Raymond type","ZDHHC9"]
[null,null,"Mental retardation, X-linked 89","ZNF41"]
[null,null,"Mental retardation, X-linked 97","ZNF711"]
[null,null,"Mental retardation, X-linked 45","ZNF81"]
["Intellecutal disability, autosomal dominant","ADNP,AHDC1,ARID1A,ARID1B,ASH1L,AUTS2,CACNG2,CDH15,CHAMP1,CIC,COL4A3BP,CTCF,CTNNB1,DEAF1,DOCK8,DPP6,DYNC1H1,DYRK1A,EEF1A2,EPB41L1,FOXP1,GATAD2B,GNB1,GRIN1,GRIN2B,HIVEP2,KAT6A,KCNQ5,KIF1A,KIRREL3,MBD5,MED13L,MEF2C,MYT1L,NAA15,NUS1,PACS1,POGZ,PPM1D,PPP2R1A,PPP2R5D,PURA,RAC1,SETBP1,SETD5,SMARCA4,SMARCB1,SOX11,STAG1,SUV420H1,SYNGAP1,TBL1XR1,TRIO,TRIP12,YY1,ZBTB18,ZMYND11","Mental retardation, autosomal dominant 28 /HELSMOORTEL-VAN DER AA SYNDROME","ADNP"]
[null,null,"Mental retardation, autosomal dominant 25 / XIA-GIBBS","AHDC1"]
[null,null,"Mental retardation, autosomal dominant 14","ARID1A"]
[null,null,"Mental retardation, autosomal dominant 12","ARID1B"]
[null,null,"Mental retardation, autosomal dominant 52","ASH1L"]
[null,null,"Mental retardation, autosomal dominant 26","AUTS2"]
[null,null,"Mental retardation, autosomal dominant 10","CACNG2"]
[null,null,"Mental retardation, autosomal dominant 3","CDH15"]
[null,null,"Mental retardation, autosomal dominant 40","CHAMP1"]
[null,null,"Mental retardation, autosomal dominant 45","CIC"]
[null,null,"Mental retardation, autosomal dominant 34","COL4A3BP"]
[null,null,"Mental retardation, autosomal dominant 21","CTCF"]
[null,null,"Mental retardation, autosomal dominant 19","CTNNB1"]
[null,null,"Mental retardation, autosomal dominant 24","DEAF1"]
[null,null,"Mental retardation, autosomal dominant 2","DOCK8"]
[null,null,"Mental retardation, autosomal dominant 33","DPP6"]
[null,null,"Mental retardation, autosomal dominant 13","DYNC1H1"]
[null,null,"Mental retardation, autosomal dominant 7","DYRK1A"]
[null,null,"Mental retardation, autosomal dominant 38","EEF1A2"]
[null,null,"Mental retardation, autosomal dominant 11","EPB41L1"]
[null,null,"Mental retardation with language impairment and autistic features","FOXP1"]
[null,null,"Mental retardation, autosomal dominant 18","GATAD2B"]
[null,null,"Mental retardation, autosomal dominant 42","GNB1"]
[null,null,"Mental retardation, autosomal dominant 8","GRIN1"]
[null,null,"Mental retardation, autosomal dominant 6","GRIN2B"]
[null,null,"Mental retardation, autosomal dominant 43","HIVEP2"]
[null,null,"Mental retardation, autosomal dominant 32","KAT6A"]
[null,null,"Mental retardation, autosomal dominant 46","KCNQ5"]
[null,null,"Mental retardation, autosomal dominant 9","KIF1A"]
[null,null,"Mental retardation, autosomal dominant 4","KIRREL3"]
[null,null,"Mental retardation, autosomal dominant 1","MBD5"]
[null,null,"Intellectual disability_MED13L","MED13L"]
[null,null,"Mental retardation, autosomal dominant 20","MEF2C"]
[null,null,"Mental retardation, autosomal dominant 39","MYT1L"]
[null,null,"Mental retardation, autosomal dominant 50","NAA15"]
[null,null,"Mental retardation, autosomal dominant 55 with seizures","NUS1"]
[null,null,"Mental retardation, autosomal dominant 17 / Schuurs-Hoeijmakers syndrome","PACS1"]
[null,null,"Mental retardation, autosomal dominant 37 / White-Sutton syndrome","POGZ"]
[null,null,"Mental retardation, autosomal dominant","PPM1D"]
[null,null,"Mental retardation, autosomal dominant 36","PPP2R1A"]
[null,null,"Mental retardation, autosomal dominant 35","PPP2R5D"]
[null,null,"Mental retardation, autosomal dominant 31","PURA"]
[null,null,"Mental retardation, autosomal dominant 48","RAC1"]
[null,null,"Mental retardation, autosomal dominant 29","SETBP1"]
[null,null,"Mental retardation, autosomal dominant 23","SETD5"]
[null,null,"Mental retardation, autosomal dominant 16 / Coffin Siris","SMARCA4"]
[null,null,"Mental retardation, autosomal dominant 15 / Coffin Siris","SMARCB1"]
[null,null,"Mental retardation, autosomal dominant 27","SOX11"]
[null,null,"Mental retardation, autosomal dominant 47","STAG1"]
[null,null,"Mental retardation, autosomal dominant 51","SUV420H1"]
[null,null,"Mental retardation, autosomal dominant 5","SYNGAP1"]
[null,null,"Mental retardation, autosomal dominant 41 (Pierpont syndrome)","TBL1XR1"]
[null,null,"Mental retardation, autosomal dominant 44","TRIO"]
[null,null,"Mental retardation, autosomal dominant 49","TRIP12"]
[null,null,"Gabriele-de Vries syndrome ","YY1"]
[null,null,"Mental retardation, autosomal dominant 22","ZBTB18"]
[null,null,"Mental retardation, autosomal dominant 30","ZMYND11"]
["Intellecutal disability, autosomal recessive","ADAT3,ANK3,CC2D1A,CRADD,CRBN,EDC3,ELP2,FBXO31,FMN2,GPT2,GRIK2,HERC2,HNMT,IMPA1,KDM5B,KIAA1033,KPTN,LINS,LMAN2L,MAN1B1,MBOAT7,MED23,METTL23,NDST1,NSUN2,PGAP1,PIGG,PRSS12,PUS3,SLC6A17,ST3GAL3,STARD9,TAF2,TECR,TNIK,TRAPPC9,TTI2,TUSC3,ZC3H14","Mental retardation, autosomal recessive 36","ADAT3"]
[null,null,"Mental retardation, autosomal recessive 37","ANK3"]
[null,null,"Mental retardation, autosomal recessive 3","CC2D1A"]
[null,null,"Mental retardation, autosomal recessive 34","CRADD"]
[null,null,"Mental retardation, autosomal recessive 2","CRBN"]
[null,null,"Mental retardation, autosomal recessive 50","EDC3"]
[null,null,"Mental retardation, autosomal recessive 58","ELP2"]
[null,null,"Mental retardation, autosomal recessive 45","FBXO31"]
[null,null,"Mental retardation, autosomal recessive 47","FMN2"]
[null,null,"Mental retardation, autosomal recessive 49","GPT2"]
[null,null,"Mental retardation, autosomal recessive, 6","GRIK2"]
[null,null,"Mental retardation, autosomal recessive 38","HERC2"]
[null,null,"Mental retardation, autosomal recessive 51","HNMT"]
[null,null,"Mental retardation, autosomal recessive 59","IMPA1"]
[null,null,"Mental retardation, autosomal recessive 65","KDM5B"]
[null,null,"Mental retardation, autosomal recessive 43","KIAA1033"]
[null,null,"Mental retardation, autosomal recessive 41","KPTN"]
[null,null,"Mental retardation, autosomal recessive 27","LINS"]
[null,null,"Mental retardation, autosomal recessive, 52","LMAN2L"]
[null,null,"Mental retardation, autosomal recessive 15","MAN1B1"]
[null,null,"Mental retardation, autosomal recessive 57","MBOAT7"]
[null,null,"Mental retardation, autosomal recessive 18","MED23"]
[null,null,"Mental retardation, autosomal recessive 44","METTL23"]
[null,null,"Mental retardation, autosomal recessive 46","NDST1"]
[null,null,"Mental retardation, autosomal recessive 5","NSUN2"]
[null,null,"Mental retardation, autosomal recessive 42","PGAP1"]
[null,null,"Mental retardation, autosomal recessive 53","PIGG"]
[null,null,"Mental retardation, autosomal recessive 1","PRSS12"]
[null,null,"Mental retardation, autosomal recessive 55","PUS3"]
[null,null,"Mental retardation, autosomal recessive 48","SLC6A17"]
[null,null,"Mental retardation, autosomal recessive 12","ST3GAL3"]
[null,null,"Intellectual disability_STARD9","STARD9"]
[null,null,"Mental retardation, autosomal recessive 40","TAF2"]
[null,null,"Mental retardation, autosomal recessive 14","TECR"]
[null,null,"Mental retardation, autosomal recessive 54","TNIK"]
[null,null,"Mental retardation, autosomal recessive 13","TRAPPC9"]
[null,null,"Mental retardation, autosomal recessive 39","TTI2"]
[null,null,"Mental retardation, autosomal recessive 7","TUSC3"]
[null,null,"Mental retardation, autosomal recessive 56","ZC3H14"]
[]
["Interferonopathies","ACP5,ADAR,C1QA,C1QB,C1QC,DDX58,IFIH1,ISG15,POLA1,PSMB8,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,SKIV2L,TMEM173,TREX1","Spondyloenchondrodysplasia with immune dysregulation","ACP5"]
[null,null,"Aicardi-goutieres syndrome 6","ADAR"]
[null,null,"C1Q deficiency 1","C1QA"]
[null,null,"C1Q deficiency 2","C1QB"]
[null,null,"C1Q deficiency 3","C1QC"]
[null,null,"Singleton-Merten syndrome 2","DDX58"]
[null,null,"Singleton-Merten syndrome 1","IFIH1"]
[null,null,"Immunodeficiency 38","ISG15"]
[null,null,"Pigmentary disorder, reticulate, with systemic manifestations, X-linked","POLA1"]
[null,null,"Autoinflammation, lipodystrophy, and dermatosis syndrome","PSMB8"]
[null,null,"Aicardi-Goutieres syndrome 4","RNASEH2A"]
[null,null,"Aicardi-Goutieres syndrome 2","RNASEH2B"]
[null,null,"Aicardi-Goutieres syndrome 3","RNASEH2C"]
[null,null,"Aicardi-Goutieres syndrome 5","SAMHD1"]
[null,null,"Trichohepatoenteric syndrome 2","SKIV2L"]
[null,null,"STING-associated vasculopathy, infantile-onset","TMEM173"]
[null,null,"Aicardi-Goutieres syndrome 1","TREX1"]
["Interstitial Lung Disease","AP3B1,AP3D1,BLOC1S3,BLOC1S6,DTNBP1,HPS1,HPS3,HPS4,HPS5,HPS6,PARN,RTEL1,SFTPA2,TERT,TOLLIP","Hermansky-Pudlak syndrome 2","AP3B1"]
[null,null,"Hermansky-Pudlak syndrome 10","AP3D1"]
[null,null,"Hermansky-Pudlak syndrome 8","BLOC1S3"]
[null,null,"Hermansky-pudlak syndrome 9","BLOC1S6"]
[null,null,"Hermansky-Pudlak syndrome 7","DTNBP1"]
[null,null,"Hermansky-Pudlak syndrome 1","HPS1"]
[null,null,"Hermansky-Pudlak syndrome 3","HPS3"]
[null,null,"Hermansky-Pudlak syndrome 4","HPS4"]
[null,null,"Hermansky-Pudlak syndrome 5","HPS5"]
[null,null,"Hermansky-Pudlak syndrome 6","HPS6"]
[null,null,"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4","PARN"]
[null,null,"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3","RTEL1"]
[null,null,"Pulmonary fibrosis, idiopathic","SFTPA2"]
[null,null,"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}","TERT"]
[null,null,"Interstitial Lung Disease","TOLLIP"]
["Interstitial nephritis, karyomegalic","FAN1","Interstitial nephritis, karyomegalic","FAN1"]
["Intrinsic factor deficiency","GIF","Intrinsic factor deficiency","GIF"]
["Iron-refractory iron deficiency anemia","TMPRSS6","Iron-refractory iron deficiency anemia","TMPRSS6"]
["Isobutyryl-CoA dehydrogenase deficiency ","ACAD8","Isobutyryl-CoA dehydrogenase deficiency ","ACAD8"]
["Isovaleric acidemia","IVD","Isovaleric acidemia","IVD"]
["IVIC syndrome","SALL4","IVIC syndrome","SALL4"]
["Jervell and Lange-Nielsen syndrome","KCNE1,KCNQ1","Jervell and Lange-Nielsen syndrome 2","KCNE1"]
[null,null,"Jervell and Lange-Nielsen syndrome 1","KCNQ1"]
["Johanson-Blizzard syndrome","UBR1","Johanson-Blizzard syndrome","UBR1"]
["Joubert","AHI1,ARL13B,B9D1,C5orf42,CC2D2A,CEP104,CEP120,CEP290,CEP41,CSPP1,INPP5E,KIAA0556,KIAA0586,KIF7,MKS1,NPHP1,OFD1,PDE6D,PIBF1,RPGRIP1L,SUFU,TCTN1,TCTN2,TCTN3,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,TTC21B,ZNF423","Joubert syndrome 3","AHI1"]
[null,null,"Joubert syndrome 8","ARL13B"]
[null,null,"Joubert syndrome 27","B9D1"]
[null,null,"Joubert syndrome 17","C5orf42"]
[null,null,"Joubert syndrome 9","CC2D2A"]
[null,null,"Joubert syndrome 25","CEP104"]
[null,null,"Joubert syndrome 31","CEP120"]
[null,null,"Joubert syndrome 5","CEP290"]
[null,null,"Joubert syndrome 15","CEP41"]
[null,null,"Joubert syndrome 21","CSPP1"]
[null,null,"Joubert syndrome 1","INPP5E"]
[null,null,"Joubert syndrome 26","KIAA0556"]
[null,null,"Joubert syndrome 23","KIAA0586"]
[null,null,"Joubert syndrome 12","KIF7"]
[null,null,"Joubert syndrome 28","MKS1"]
[null,null,"Joubert syndrome 4","NPHP1"]
[null,null,"Joubert syndrome 10","OFD1"]
[null,null,"Joubert syndrome 22","PDE6D"]
[null,null,"Joubert syndrome 33","PIBF1"]
[null,null,"Joubert syndrome 7","RPGRIP1L"]
[null,null,"Joubert syndrome 32","SUFU"]
[null,null,"Joubert syndrome 13","TCTN1"]
[null,null,"Joubert syndrome 24","TCTN2"]
[null,null,"Joubert syndrome 18","TCTN3"]
[null,null,"Joubert syndrome 16","TMEM138"]
[null,null,"Joubert syndrome 2","TMEM216"]
[null,null,"Joubert syndrome 20","TMEM231"]
[null,null,"Joubert syndrome 14","TMEM237"]
[null,null,"Joubert syndrome 6","TMEM67"]
[null,null,"Joubert syndrome 11","TTC21B"]
[null,null,"Joubert syndrome 19","ZNF423"]
["Kabuki syndrome","KDM6A,KMT2D","Kabuki syndrome 2","KDM6A"]
[null,null,"Kabuki syndrome 1","KMT2D"]
["Kaufman oculocerebrofacial syndrome","UBE3B","Kaufman oculocerebrofacial syndrome","UBE3B"]
["KBG syndrome","ANKRD11","KBG syndrome","ANKRD11"]
["Kenny-Caffey syndrome","FAM111A,TBCE","Kenny-Caffey syndrome, type 2","FAM111A"]
[null,null,"Kenny-Caffey syndrome, type 1","TBCE"]
["Keppen-Lubinsky Syndrome","KCNJ6","Keppen-Lubinsky Syndrome","KCNJ6"]
["Keratosis","MBTPS2,POMP","Keratosis follicularis spinulosa decalvans, X-linked","MBTPS2"]
[null,null,"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma","POMP"]
["Keutel syndrome","MGP","Keutel syndrome","MGP"]
["Kindler syndrome","FERMT1","Kindler syndrome","FERMT1"]
["Kininogen deficiency","KNG1","Kininogen deficiency","KNG1"]
["Kleefstra syndrome","EHMT1,KMT2C","Kleefstra syndrome","EHMT1"]
[null,null,"Kleefstra syndrome 2","KMT2C"]
["Klippel-Feil syndrome","GDF3,GDF6,MEOX1,MYO18B","Klippel-Feil syndrome 3, autosomal dominant","GDF3"]
[null,null,"Klippel-Feil syndrome 1, autosomal dominant","GDF6"]
[null,null,"Klippel-Feil syndrome 2, autosomal recessive","MEOX1"]
[null,null,"Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism","MYO18B"]
["Knobloch syndrome 1","COL18A1","Knobloch syndrome 1","COL18A1"]
["Kohlschutter-Tonz syndrome","ROGDI","Kohlschutter-Tonz syndrome","ROGDI"]
["Koolen-De Vries syndrome","KANSL1","Koolen-De Vries syndrome","KANSL1"]
["Kowarski syndrome","GH1","Kowarski syndrome","GH1"]
["Krabbe","GALC,PSAP","Krabbe","GALC"]
[null,null,"Krabbe disease, atypical","PSAP"]
["L-2-hydroxyglutaric aciduria","L2HGDH","L-2-hydroxyglutaric aciduria","L2HGDH"]
["Lactase deficiency","LCT","Lactase deficiency, congenital","LCT"]
["Lactate dehydrogenase-B deficiency","LDHB","Lactate dehydrogenase-B deficiency","LDHB"]
["Lacticacidemia due to PDX1 deficiency","PDHX,PDX1","Lacticacidemia due to PDX1 deficiency 1","PDHX"]
[null,null,"Lacticacidemia due to PDX1 deficiency 2","PDX1"]
["LADD syndrome","FGF10,FGFR2,FGFR3","LADD syndrome_FGF10","FGF10"]
[null,null,"LADD syndrome_FGFR2","FGFR2"]
[null,null,"LADD syndrome_FGFR3","FGFR3"]
["Lamb-Shaffer syndrome","SOX5","Lamb-Shaffer syndrome","SOX5"]
["Langer mesomelic dysplasia","SHOX","Langer mesomelic dysplasia","SHOX"]
["Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia","GNB5","Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia","GNB5"]
["Laron dwarfism","GHR","Laron dwarfism","GHR"]
["Lathosterolosis","SC5D","Lathosterolosis","SC5D"]
["Lathosterolosis","SC5D","Lathosterolosis","SC5D"]
["LCHAD deficiency","HADHA","LCHAD deficiency","HADHA"]
["Leber Congenital Amaurosis","AIPL1,CEP290,CRB1,CRX,DTHD1,GDF6,GUCY2D,IFT140,IMPDH1,KCNJ13,LCA5,LRAT,NMNAT1,PRPH2,RD3,RDH12,RPE65,RPGRIP1,SPATA7,TULP1","Leber congenital amaurosis 4","AIPL1"]
[null,null,"Leber congenital amaurosis 10","CEP290"]
[null,null,"Leber congenital amaurosis 8","CRB1"]
[null,null,"Leber congenital amaurosis 7","CRX"]
[null,null,"Leber congenital amaurosis_DHDT1","DTHD1"]
[null,null,"Leber congenital amaurosis 17","GDF6"]
[null,null,"Leber congenital amaurosis 1","GUCY2D"]
[null,null,"Leber congenital amaurosis_IFT140","IFT140"]
[null,null,"Leber congenital amaurosis 11","IMPDH1"]
[null,null,"Leber congenital amaurosis 16","KCNJ13"]
[null,null,"Leber congenital amaurosis 5","LCA5"]
[null,null,"Leber congenital amaurosis 14","LRAT"]
[null,null,"Leber congenital amaurosis 9","NMNAT1"]
[null,null,"Leber congenital amaurosis 18","PRPH2"]
[null,null,"Leber congenital amaurosis 12","RD3"]
[null,null,"Leber congenital amaurosis 13","RDH12"]
[null,null,"Leber congenital amaurosis 2","RPE65"]
[null,null,"Leber congenital amaurosis 6","RPGRIP1"]
[null,null,"Leber congenital amaurosis 3","SPATA7"]
[null,null,"Leber congenital amaurosis 15","TULP1"]
["Lectin complement activation pathway defects","FCN3,MASP2,MBL2","Immunodeficiency due to ficolin 3 deficiency","FCN3"]
[null,null,"MASP2 deficiency","MASP2"]
[null,null,"Chronic infections, due to MBL deficiency","MBL2"]
["Left ventricular noncompaction","ACTC1,DTNA,LDB3,MIB1,MYBPC3,MYH7,PRDM16,TAZ,TNNT2,TPM1","Left ventricular noncompaction 4","ACTC1"]
[null,null,"Left ventricular noncompaction 1, with or without congenital heart defects","DTNA"]
[null,null,"Left ventricular noncompaction 3","LDB3"]
[null,null,"Left ventricular noncompaction 7","MIB1"]
[null,null,"Left ventricular noncompaction 10","MYBPC3"]
[null,null,"Left ventricular noncompaction 5","MYH7"]
[null,null,"Left ventricular noncompaction 8","PRDM16"]
[null,null,"Barth syndrome","TAZ"]
[null,null,"Left ventricular noncompaction 6","TNNT2"]
[null,null,"Left ventricular noncompaction 9","TPM1"]
["Legius syndrome","SPRED1","Legius syndrome","SPRED1"]
["Leigh syndrome","BCS1L,COX10,COX15,FOXRED1,LRPPRC,NDUFA10,NDUFA12,NDUFA2,NDUFA9,NDUFAF2,NDUFAF6,NDUFB8,NDUFS3,NDUFS4,NDUFS7,NDUFS8,PDHA1,SDHA,SERAC1,SURF1","Leigh syndrome_BSC1L","BCS1L"]
[null,null,"Leigh syndrome due to mitochondrial COX4 deficiency","COX10"]
[null,null,"Leigh syndrome due to cytochrome c oxidase deficiency","COX15"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_FOXRED1","FOXRED1"]
[null,null,"Leigh syndrome, French-Canadian type","LRPPRC"]
[null,null,"Leigh syndrome_NDUFA10","NDUFA10"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFA12","NDUFA12"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFA2","NDUFA2"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFA9","NDUFA9"]
[null,null,"Leigh syndrome_NDUFAF2","NDUFAF2"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFAF6","NDUFAF6"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFB8","NDUFB8"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFS3","NDUFS3"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFS4","NDUFS4"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFS7","NDUFS7"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFS8","NDUFS8"]
[null,null,"Leigh syndrome, X-linked","PDHA1"]
[null,null,"Leigh syndrome_SDHA","SDHA"]
[null,null,"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome","SERAC1"]
[null,null,"Leigh syndrome, due to COX deficiency","SURF1"]
["Leiomyomatosis, diffuse, with Alport syndrome","COL4A6","Leiomyomatosis, diffuse, with Alport syndrome","COL4A6"]
["Lenz-Majewski hyperostotic dwarfism","PTDSS1","Lenz-Majewski hyperostotic dwarfism","PTDSS1"]
["Lesch-Nyhan syndrome","HPRT1","Lesch-Nyhan syndrome","HPRT1"]
["Lethal congenital contractural syndrome","ADCY6,CNTNAP1,DNM2,ERBB3,GLDN,GLE1,GPR126,MYBPC1,NEK9,PIP5K1C,ZBTB42","Lethal congenital contracture syndrome 8","ADCY6"]
[null,null,"Lethal congenital contracture syndrome 7","CNTNAP1"]
[null,null,"Lethal congenital contracture syndrome 5","DNM2"]
[null,null,"Lethal congenital contracture syndrome 2","ERBB3"]
[null,null,"Lethal congenital contracture syndrome 11","GLDN"]
[null,null,"Lethal congenital contracture syndrome 1","GLE1"]
[null,null,"Lethal congenital contracture syndrome 9","GPR126"]
[null,null,"Lethal congenital contracture syndrome 4","MYBPC1"]
[null,null,"Lethal congenital contracture syndrome 10","NEK9"]
[null,null,"Lethal congenital contracture syndrome 3","PIP5K1C"]
[null,null,"Lethal congenital contracture syndrome 6","ZBTB42"]
["Lethal Neurometabolic Disorder of Early Childhood","APOA1BP","Lethal Neurometabolic Disorder of Early Childhood","APOA1BP"]
["Leukemia, Acute Myeloid, Familial","CEBPA,CHIC2,ETV6,GATA2,KIT,KRAS,LPP,MLF1,MLLT10,NSD1,PTPN11,RUNX1,SH3GL1,TERT,WHSC1L1","Leukemia, Acute Myeloid, Familial 1","CEBPA"]
[null,null,"Leukemia, Acute Myeloid, Familial 2","CHIC2"]
[null,null,"Leukemia, Acute Myeloid, Familial 3","ETV6"]
[null,null,"Leukemia, Acute Myeloid, Familial 4","GATA2"]
[null,null,"Leukemia, Acute Myeloid, Familial 5","KIT"]
[null,null,"Leukemia, Acute Myeloid, Familial 6","KRAS"]
[null,null,"Leukemia, Acute Myeloid, Familial 7","LPP"]
[null,null,"Leukemia, Acute Myeloid, Familial 8","MLF1"]
[null,null,"Leukemia, Acute Myeloid, Familial 9","MLLT10"]
[null,null,"Leukemia, Acute Myeloid, Familial 10","NSD1"]
[null,null,"Leukemia, Acute Myeloid, Familial 11","PTPN11"]
[null,null,"Leukemia, Acute Myeloid, Familial 12","RUNX1"]
[null,null,"Leukemia, Acute Myeloid, Familial 13","SH3GL1"]
[null,null,"Leukemia, Acute Myeloid, Familial 14","TERT"]
[null,null,"Leukemia, Acute Myeloid, Familial 15","WHSC1L1"]
["Leukocyte adhesion deficiency","FERMT3,ITGB2","Leukocyte adhesion deficiency, type III","FERMT3"]
[null,null,"Leukocyte adhesion deficiency","ITGB2"]
["Leukodystrophy / leukoencephalopathy","AARS2,ABCD1,AIMP1,APOPT1,ARSA,CLCN2,CSF1R,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GJC2,HEPACAM,HSPD1,IBA57,KARS,LMNB1,MLC1,POLR1C,POLR3A,POLR3B,PSAP,PYCR2,RARS,RNASET2,SCP2,SNORD118,TUBB4A,VPS11","Leukoencephalopathy, progressive, with ovarian failure","AARS2"]
[null,null,"Adrenoleukodystrophy","ABCD1"]
[null,null,"Leukodystrophy, hypomyelinating 3","AIMP1"]
[null,null,"Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency","APOPT1"]
[null,null,"Metachromatic leukodystrophy","ARSA"]
[null,null,"Leukoencephalopathy with ataxia","CLCN2"]
[null,null,"Leukoencephalopathy, diffuse hereditary, with spheroids","CSF1R"]
[null,null,"Leukoencephalopathy with vanishing white matter 1","EIF2B1"]
[null,null,"Leukoencephalopathy with vanishing white matter 2","EIF2B2"]
[null,null,"Leukoencephalopathy with vanishing white matter 3","EIF2B3"]
[null,null,"Leukoencephalopathy with vanishing white matter 4","EIF2B4"]
[null,null,"Leukoencephalopathy with vanishing white matter 5","EIF2B5"]
[null,null,"Leukodystrophy, hypomyelinating, 5","FAM126A"]
[null,null,"Leukodystrophy, hypomyelinating, 2","GJC2"]
[null,null,"Megalencephalic leukoencephalopathy with subcortical cysts 2A","HEPACAM"]
[null,null,"Leukodystrophy, hypomyelinating, 4","HSPD1"]
[null,null,"Fatal infantile leukodystrophy","IBA57"]
[null,null,"Leukoencephalopathy with hearing loss","KARS"]
[null,null,"Adult onset leukodystrophy","LMNB1"]
[null,null,"Megalencephalic leukoencephalopathy with subcortical cysts","MLC1"]
[null,null,"Leukodystrophy, hypomyelinating, 11","POLR1C"]
[null,null,"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism","POLR3A"]
[null,null,"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism","POLR3B"]
[null,null,"Metachromatic leukodystrophy due to SAP-b deficiency","PSAP"]
[null,null,"Leukodystrophy, hypomyelinating, 10","PYCR2"]
[null,null,"Leukodystrophy, hypomyelinating, 9","RARS"]
[null,null,"Leukoencephalopathy, cystic, without megalencephaly","RNASET2"]
[null,null,"Leukoencephalopathy with dystonia and motor neuropathy","SCP2"]
[null,null,"Leukoencephalopathy with calcification and cysts","SNORD118"]
[null,null,"Leukodystrophy, hypomyelinating, 6","TUBB4A"]
[null,null,"Leukodystrophy, hypomyelinating, 12","VPS11"]
["Leukodystrophy, hypomyelinating","AIMP1,FAM126A,GJC2,HSPD1,POLR1C,POLR3A,POLR3B,PYCR2,RARS,TUBB4A,VPS11","Leukodystrophy, hypomyelinating 3","AIMP1"]
[null,null,"Leukodystrophy, hypomyelinating, 5","FAM126A"]
[null,null,"Leukodystrophy, hypomyelinating, 2","GJC2"]
[null,null,"Leukodystrophy, hypomyelinating, 4","HSPD1"]
[null,null,"Leukodystrophy, hypomyelinating, 11","POLR1C"]
[null,null,"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism","POLR3A"]
[null,null,"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism","POLR3B"]
[null,null,"Leukodystrophy, hypomyelinating, 10","PYCR2"]
[null,null,"Leukodystrophy, hypomyelinating, 9","RARS"]
[null,null,"Leukodystrophy, hypomyelinating, 6","TUBB4A"]
[null,null,"Leukodystrophy, hypomyelinating, 12","VPS11"]
["Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","DARS2","Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","DARS2"]
["Leukotriene C4 synthase deficiency","LTC4S","Leukotriene C4 synthase deficiency","LTC4S"]
["Li Fraumeni","CHEK2,TP53","Li Fraumeni like syndrome","CHEK2"]
[null,null,"Li Fraumeni syndrome","TP53"]
["Liddle syndrome","SCNN1B,SCNN1G","Liddle syndrome_SCNN1B","SCNN1B"]
[null,null,"Liddle syndrome 2","SCNN1G"]
["Liebenberg syndrome","PITX1","Liebenberg syndrome","PITX1"]
["Limb girdle muscular dystrophy","ANO5,BVES,CAPN3,CAV3,DAG1,DES,DMD,DNAJB6,DYSF,FKRP,FKTN,GAA,GMPPB,HNRNPDL,ISPD,LIMS2,LMNA,MYOT,PLEC,POGLUT1,POMGNT1,POMT1,POMT2,SGCA,SGCB,SGCD,SGCG,SGK196,TCAP,TNPO3,TOR1AIP1,TRAPPC11,TRIM32,TTN","Muscular dystrophy, limb-girdle, type 2L","ANO5"]
[null,null,"Muscular dystrophy, limb-girdle, type 2X","BVES"]
[null,null,"Muscular dystrophy, limb-girdle, type 2A","CAPN3"]
[null,null,"Muscular dystrophy, limb-girdle, type 1C","CAV3"]
[null,null,"Muscular dystrophy, limb-girdle, type 2P","DAG1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2R","DES"]
[null,null,"Duchenne/Becker","DMD"]
[null,null,"Muscular dystrophy, limb-girdle, type 1E","DNAJB6"]
[null,null,"Muscular dystrophy, limb-girdle, type 2B","DYSF"]
[null,null,"Muscular dystrophy, limb-girdle, type 2I","FKRP"]
[null,null,"Muscular dystrophy, limb-girdle, type 2M","FKTN"]
[null,null,"Muscular dystrophy, limb-girdle, type 2V","GAA"]
[null,null,"Muscular dystrophy, limb-girdle, type 2T","GMPPB"]
[null,null,"Muscular dystrophy, limb-girdle, type 1G","HNRNPDL"]
[null,null,"Muscular dystrophy, limb-girdle, type 2U","ISPD"]
[null,null,"Muscular dystrophy, limb-girdle, type 2W","LIMS2"]
[null,null,"Muscular dystrophy, limb-girdle, type 1B","LMNA"]
[null,null,"Muscular dystrophy, limb-girdle, type 1A","MYOT"]
[null,null,"Muscular dystrophy, limb-girdle, type 2Q","PLEC"]
[null,null,"Muscular dystrophy, limb-girdle, type 2Z","POGLUT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2O","POMGNT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2K","POMT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2N","POMT2"]
[null,null,"Muscular dystrophy, limb-girdle, type 2D","SGCA"]
[null,null,"Muscular dystrophy, limb-girdle, type 2E","SGCB"]
[null,null,"Muscular dystrophy, limb-girdle, type 2F","SGCD"]
[null,null,"Muscular dystrophy, limb-girdle, type 2C","SGCG"]
[null,null,"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12","SGK196"]
[null,null,"Muscular dystrophy, limb-girdle, type 2G","TCAP"]
[null,null,"Muscular dystrophy, limb-girdle, type 1F","TNPO3"]
[null,null,"Muscular dystrophy, limb-girdle, type 2Y","TOR1AIP1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2S","TRAPPC11"]
[null,null,"Muscular dystrophy, limb-girdle, type 2H","TRIM32"]
[null,null,"Muscular dystrophy, limb-girdle, type 2J","TTN"]
["Limb-mammary syndrome","TP63","Limb-mammary syndrome","TP63"]
["Linear skin defects with multiple congenital anomalies","COX7B,HCCS,NDUFB11","Linear skin defects with multiple congenital anomalies 2","COX7B"]
[null,null,"Linear skin defects with multiple congenital anomalies 1","HCCS"]
[null,null,"Linear skin defects with multiple congenital anomalies 3","NDUFB11"]
["Lipid disease","ABCA1,ANGPTL3,LDLR,LDLRAP1,LMF1,LPL,PCSK9","Tangier disease","ABCA1"]
[null,null,"Hypobetalipoproteinemia, familial, 2","ANGPTL3"]
[null,null,"Hypercholesterolemia, familial","LDLR"]
[null,null,"Hypercholesterolemia, familial, autosomal recessive","LDLRAP1"]
[null,null,"Lipase deficiency, combined","LMF1"]
[null,null,"Combined hyperlipidemia, familial","LPL"]
[null,null,"Hypercholesterolemia, familial, 3","PCSK9"]
["Lipid proteinosis / Urbach-Wiethe disease","ECM1","Lipid proteinosis / Urbach-Wiethe disease","ECM1"]
["Lipodystrophy","AGPAT2,BSCL2,CAV1,CIDEC,LIPE,LMNA,PLIN1,PPARG,PTRF","Lipodystrophy, congenital generalized, type 1","AGPAT2"]
[null,null,"Lipodystrophy, congenital generalized, type 2","BSCL2"]
[null,null,"Lipodystrophy, congenital generalized, type 3","CAV1"]
[null,null,"Lipodystrophy, familial partial, type 5","CIDEC"]
[null,null,"Lipodystrophy, familial partial, type 6","LIPE"]
[null,null,"Lipodystrophy, familial partial, type 2","LMNA"]
[null,null,"Lipodystrophy, familial partial, type 4","PLIN1"]
[null,null,"Lipodystrophy, familial partial, type 3","PPARG"]
[null,null,"Lipodystrophy, congenital generalized, type 4","PTRF"]
["Lipodystrophy, congenital generalized","AGPAT2,BSCL2,CAV1,PTRF","Lipodystrophy, congenital generalized, type 1","AGPAT2"]
[null,null,"Lipodystrophy, congenital generalized, type 2","BSCL2"]
[null,null,"Lipodystrophy, congenital generalized, type 3","CAV1"]
[null,null,"Lipodystrophy, congenital generalized, type 4","PTRF"]
["Lipodystrophy, familial partial","CIDEC,LIPE,LMNA,PLIN1,PPARG","Lipodystrophy, familial partial, type 5","CIDEC"]
[null,null,"Lipodystrophy, familial partial, type 6","LIPE"]
[null,null,"Lipodystrophy, familial partial, type 2","LMNA"]
[null,null,"Lipodystrophy, familial partial, type 4","PLIN1"]
[null,null,"Lipodystrophy, familial partial, type 3","PPARG"]
["Lipoyltransferase 1 deficiency","LIPT1","Lipoyltransferase 1 deficiency","LIPT1"]
["Lissencephaly","ACTB,ACTG1,APOC3,ARX,CDK5,CRADD,DCX,LAMB1,PAFAH1B1,RELN,TMTC3,TUBA1A","Baraitser-Winter syndrome 1","ACTB"]
[null,null,"Baraitser-Winter syndrome 2","ACTG1"]
[null,null,"Apolipoprotein C-III deficiency","APOC3"]
[null,null,"Lissencephaly, X-linked 2","ARX"]
[null,null,"Lissencephaly 7 with cerebellar hypoplasia","CDK5"]
[null,null,"Mental retardation, autosomal recessive 34, with variant lissencephaly","CRADD"]
[null,null,"Lissencephaly, X-linked","DCX"]
[null,null,"Lissencephaly 5","LAMB1"]
[null,null,"Lissencephaly 1","PAFAH1B1"]
[null,null,"Lissencephaly 2 (Norman-Roberts type)","RELN"]
[null,null,"Lissencephaly 8","TMTC3"]
[null,null,"Lissencephaly 3","TUBA1A"]
["Liver Failure","LARS,NBAS","Infantile liver failure syndrome 1","LARS"]
[null,null,"Infantile liver failure syndrome 2 / Acute liver failure","NBAS"]
["Liver failure, transient infantile","TRMU","Liver failure, transient infantile","TRMU"]
["Loeys-Dietz syndrome","SMAD3,TGFB2,TGFB3,TGFBR1,TGFBR2","Loeys-Dietz syndrome 3","SMAD3"]
[null,null,"Loeys-Dietz syndrome 4","TGFB2"]
[null,null,"Loeys-Dietz syndrome 5 / Reihoff syndrome","TGFB3"]
[null,null,"Loeys-Dietz syndrome 1","TGFBR1"]
[null,null,"Loeys-Dietz syndrome 2","TGFBR2"]
["Long QT syndrome","AKAP9,ANK2,CACNA1C,CALM1,CALM2,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TECRL","Long QT syndrome 11","AKAP9"]
[null,null,"Long QT syndrome 4","ANK2"]
[null,null,"Long QT syndrome 8","CACNA1C"]
[null,null,"Long QT syndrome 14","CALM1"]
[null,null,"Long QT syndrome 15","CALM2"]
[null,null,"Long QT syndrome 9","CAV3"]
[null,null,"Long QT syndrome 5","KCNE1"]
[null,null,"Long QT syndrome 6","KCNE2"]
[null,null,"Long QT syndrome 2","KCNH2"]
[null,null,"Long QT syndrome 7","KCNJ2"]
[null,null,"Long QT syndrome 13","KCNJ5"]
[null,null,"Long QT syndrome 1","KCNQ1"]
[null,null,"Long QT syndrome 10","SCN4B"]
[null,null,"Long QT syndrome 3","SCN5A"]
[null,null,"Long QT syndrome 12","SNTA1"]
[null,null,"arrhythmia","TECRL"]
["Lopes-Maciel-Rodan Syndrome","HTT","Lopes-Maciel-Rodan Syndrome","HTT"]
["Lujan-Fryns syndrome","MED12","Lujan-Fryns syndrome","MED12"]
["Luscan-Lumish syndrome","SETD2","Luscan-Lumish syndrome","SETD2"]
["Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus","FOXC2","Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus","FOXC2"]
["lymphedema, hereditary","FLT4,GJC2,PIEZO1,VEGFC","Lymphedema, hereditary, IA","FLT4"]
[null,null,"Lymphedema, hereditary, IC","GJC2"]
[null,null,"Lymphedema, hereditary, III","PIEZO1"]
[null,null,"Lymphedema, hereditary, ID","VEGFC"]
["Lymphoproliferative syndrome","CD27,ITK,SH2D1A,XIAP","Lymphoproliferative syndrome 2","CD27"]
[null,null,"Lymphoproliferative syndrome 1","ITK"]
[null,null,"Lymphoproliferative syndrome, X-linked, 1","SH2D1A"]
[null,null,"Lymphoproliferative syndrome, X-linked, 2","XIAP"]
["Lysinuric protein intolerance","SLC7A7","Lysinuric protein intolerance","SLC7A7"]
["Lysosomal Acid Lipase deficiency","LIPA","Lysosomal Acid Lipase deficiency","LIPA"]
["Lysosomal acid phosphatase deficiency","ACP2","Lysosomal acid phosphatase deficiency","ACP2"]
["Lysosomal disease","ACP2,ARSA,ARSB,FUCA1,GALC,GALNS,GBA,GLA,GLB1,GM2A,GNPTAB,GNPTG,GNS,GUSB,HEXA,HEXB,HGSNAT,HYAL1,IDS,IDUA,LIPA,MAN2B1,MANBA,MCOLN1,NAGA,NAGLU,NEU1,NPC1,NPC2,PSAP,SGSH,SLC17A5,SMPD1,SUMF1,VPS33A","Lysosomal acid phosphatase deficiency","ACP2"]
[null,null,"Metachromatic leukodystrophy","ARSA"]
[null,null,"Mucopolysaccharidosis type VI (Maroteaux-Lamy)","ARSB"]
[null,null,"Fucosidosis","FUCA1"]
[null,null,"Krabbe","GALC"]
[null,null,"Mucopolysaccharidosis IVA (Morquio syndrome A)","GALNS"]
[null,null,"Gaucher","GBA"]
[null,null,"Fabry disease","GLA"]
[null,null,"Mucopolysaccharidosis type IVB (Morquio)","GLB1"]
[null,null,"GM2 gangliosidosis AB variant","GM2A"]
[null,null,"I cell disease / Mucolipidosis II alpha/beta","GNPTAB"]
[null,null,"Mucolipidosis III gamma","GNPTG"]
[null,null,"Mucopolysaccharidosis type IIID / San Filippo syndrome D","GNS"]
[null,null,"Mucopolysaccharidosis VII (Sly syndrome)","GUSB"]
[null,null,"Tay Sachs","HEXA"]
[null,null,"Sandhoff disease","HEXB"]
[null,null,"Mucopolysaccharidosis type IIIC (Sanfilippo C)","HGSNAT"]
[null,null,"Mucopolysaccharidosis type IX","HYAL1"]
[null,null,"Mucopolysaccharidosis II (Hunter syndrome)","IDS"]
[null,null,"Mucopolysaccharidosis Is (Hurler)","IDUA"]
[null,null,"Lysosomal Acid Lipase deficiency","LIPA"]
[null,null,"Alpha Mannosidosis","MAN2B1"]
[null,null,"Mannosidosis, beta","MANBA"]
[null,null,"Mucolipidosis IV","MCOLN1"]
[null,null,"Schindler disease, type I, type II","NAGA"]
[null,null,"Mucopolysaccharidosis type IIIB (Sanfilippo B)","NAGLU"]
[null,null,"Sialidosis","NEU1"]
[null,null,"Niemann-Pick disease, type C1, type D","NPC1"]
[null,null,"Niemann-pick disease, type C2","NPC2"]
[null,null,"Metachromatic leukodystrophy due to SAP-b deficiency","PSAP"]
[null,null,"Mucopolysaccharidisis type IIIA (Sanfilippo A)","SGSH"]
[null,null,"Sialic acid storage disorder, infantile","SLC17A5"]
[null,null,"Niemann-Pick disease, type A, type B","SMPD1"]
[null,null,"Multiple sulfatase deficiency","SUMF1"]
[null,null,"mucopolysaccharidosis-plus syndrome","VPS33A"]
["Lysyl hydroxylase 3 deficiency","PLOD3","Lysyl hydroxylase 3 deficiency","PLOD3"]
["Macrocephaly, alopecia, cutis laxa, and scoliosis","RIN2","Macrocephaly, alopecia, cutis laxa, and scoliosis","RIN2"]
["Macrocephaly, dysmorphic facies, and psychomotor retardation","HERC1","Macrocephaly, dysmorphic facies, and psychomotor retardation","HERC1"]
["Macrocephaly, macrosomia, facial dysmorphism syndrome","RNF135","Macrocephaly, macrosomia, facial dysmorphism syndrome","RNF135"]
["Macrocephaly/megalencephaly syndrome, autosomal recessive","TBC1D7","Macrocephaly/megalencephaly syndrome, autosomal recessive","TBC1D7"]
["Macular degeneration","C1QTNF5,EFEMP1,IRX1,PRDM13,PROM1,RP1L1,RPGR,TIMP3","Retinal degeneration, late-onset, autosomal dominant","C1QTNF5"]
[null,null,"Doyne honeycomb degeneration of retina","EFEMP1"]
[null,null,"Macular dystrophy, North Carolina type 1","IRX1"]
[null,null,"Macular dystrophy, North Carolina type 2","PRDM13"]
[null,null,"Macular dystrophy, retinal, 2","PROM1"]
[null,null,"Occult macular dystrophy","RP1L1"]
[null,null,"Macular degeneration, X-linked atrophic","RPGR"]
[null,null,"Sorsby fundus dystrophy","TIMP3"]
["Macular dystrophy","BEST1,C1QTNF5,CTNNA1,EFEMP1,IMPG1,IMPG2,IRX1,MAPKAPK3,PRDM13,PROM1,PRPH2,RP1L1,RPGR,TIMP3","Macular dystrophy, vitelliform, 2 / BEST macular dystrophy","BEST1"]
[null,null,"Retinal degeneration, late-onset, autosomal dominant","C1QTNF5"]
[null,null,"Macular dystrophy, patterned, 2","CTNNA1"]
[null,null,"Doyne honeycomb degeneration of retina","EFEMP1"]
[null,null,"Macular dystrophy, vitelliform, 4","IMPG1"]
[null,null,"Macular dystrophy, vitelliform, 5","IMPG2"]
[null,null,"Macular dystrophy, North Carolina type 1","IRX1"]
[null,null,"Macular dystrophy, patterned, 3","MAPKAPK3"]
[null,null,"Macular dystrophy, North Carolina type 2","PRDM13"]
[null,null,"Macular dystrophy, retinal, 2","PROM1"]
[null,null,"Macular dystrophy, vitelliform, 3","PRPH2"]
[null,null,"Occult macular dystrophy","RP1L1"]
[null,null,"Macular degeneration, X-linked atrophic","RPGR"]
[null,null,"Sorsby fundus dystrophy","TIMP3"]
["Macular dystrophy, patterned","CTNNA1,MAPKAPK3,PRPH2","Macular dystrophy, patterned, 2","CTNNA1"]
[null,null,"Macular dystrophy, patterned, 3","MAPKAPK3"]
[null,null,"Macular dystrophy, patterned, 1","PRPH2"]
["Macular dystrophy, vitelliform","BEST1,IMPG1,IMPG2,PRPH2","Macular dystrophy, vitelliform, 2 / BEST macular dystrophy","BEST1"]
[null,null,"Macular dystrophy, vitelliform, 4","IMPG1"]
[null,null,"Macular dystrophy, vitelliform, 5","IMPG2"]
[null,null,"Macular dystrophy, vitelliform, 3","PRPH2"]
["Male infertility due to acrosin deficiency","ACR","Male infertility due to acrosin deficiency","ACR"]
["Maleylacetoacetate isomerase deficiency","GSTZ1","Maleylacetoacetate isomerase deficiency","GSTZ1"]
["Malonyl-CoA decarboxylase deficiency","MLYCD","Malonyl-CoA decarboxylase deficiency","MLYCD"]
["Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome","POLD1","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome","POLD1"]
["Mandibuloacral dysplasia","LMNA,ZMPSTE24","Mandibuloacral dysplasia","LMNA"]
[null,null,"Mandibuloacral dysplasia with type B lipodystrophy","ZMPSTE24"]
["Mandibulofacial Dysostosis","EDNRA,EFTUD2","Mandibulofacial Dysostosis with Alopecia","EDNRA"]
[null,null,"Mandibulofacial dysostosis, Guion-Almeida type","EFTUD2"]
["Manitoba oculotrichoanal syndrome / trignocephaly","FREM1","Manitoba oculotrichoanal syndrome / trignocephaly","FREM1"]
["Mannosidosis, beta","MANBA","Mannosidosis, beta","MANBA"]
["Maple syrup urine disease","BCKDHA,BCKDHB,DBT,DLD,PPM1K","Maple syrup urine disease, type Ia","BCKDHA"]
[null,null,"Maple syrup urine disease, type Ib","BCKDHB"]
[null,null,"Maple syrup urine disease, type II","DBT"]
[null,null,"Dihydrolipoamide dehydrogenase deficiency","DLD"]
[null,null,"Maple syrup urine disease, mild variant","PPM1K"]
["Marden-Walker syndrome","PIEZO2","Marden-Walker syndrome","PIEZO2"]
["Marfan syndrome","FBN1","Marfan syndrome","FBN1"]
["Marshall-Smith syndrome","NFIX","Marshall-Smith syndrome","NFIX"]
["Maturity-onset diabetes of the young","APPL1,BLK,CEL,GCK,HNF1A,HNF1B,HNF4A,INS,KCNJ11,KLF11,NEUROD1,PAX4,PDX1,RFX6","Maturity-onset diabetes of the young, type 14","APPL1"]
[null,null,"Maturity-onset diabetes of the young, type XI","BLK"]
[null,null,"Maturity-onset diabetes of the young, type VIII","CEL"]
[null,null,"Maturity-onset diabetes of the young, type II","GCK"]
[null,null,"Maturity-onset diabetes of the young, type III","HNF1A"]
[null,null,"Maturity-onset diabetes of the young","HNF1B"]
[null,null,"Maturity-onset diabetes of the young, type I","HNF4A"]
[null,null,"Maturity-onset diabetes of the young, type X","INS"]
[null,null,"Maturity-onset diabetes of the young, type XIII","KCNJ11"]
[null,null,"Maturity-onset diabetes of the young, type VII","KLF11"]
[null,null,"Maturity-onset diabetes of the young, type VI","NEUROD1"]
[null,null,"Maturity-onset diabetes of the young, type IX","PAX4"]
[null,null,"Maturity-onset diabetes of the young, type IV","PDX1"]
[null,null,"Maturity-onset diabetes of the young_RFX6","RFX6"]
["Mayer-Rokitansky-Kuster-Hauser syndrome","HNF1B,LHX1,WNT4,WNT9B","Mayer-Rokitansky-Küster-Hauser syndrome_HNF1B","HNF1B"]
[null,null,"Mayer-Rokitansky-Küster-Hauser syndrome_LHX1","LHX1"]
[null,null,"Mayer-Rokitansky-Küster-Hauser syndrome_WNT4","WNT4"]
[null,null,"Mayer-Rokitansky-Küster-Hauser syndrome_WNT9B","WNT9B"]
["McCune-Albright syndrome","GNAS","McCune-Albright syndrome","GNAS"]
["Meckel syndrome","B9D1,B9D2,CC2D2A,CEP290,KIF14,MKS1,NPHP3,RPGRIP1L,TCTN2,TMEM216,TMEM231,TMEM67","Meckel syndrome 9","B9D1"]
[null,null,"Meckel syndrome, type 10","B9D2"]
[null,null,"Meckel syndrome 6","CC2D2A"]
[null,null,"Meckel syndrome 4","CEP290"]
[null,null,"Meckel syndrome 12","KIF14"]
[null,null,"Meckel syndrome 1","MKS1"]
[null,null,"Meckel syndrome 7","NPHP3"]
[null,null,"Meckel syndrome 5","RPGRIP1L"]
[null,null,"Meckel syndrome 8","TCTN2"]
[null,null,"Meckel syndrome 2","TMEM216"]
[null,null,"Meckel syndrome 11","TMEM231"]
[null,null,"Meckel syndrome 3","TMEM67"]
["meconium ileus","GUCY2C","meconium ileus","GUCY2C"]
["MEDNIK syndrome","AP1S1","MEDNIK syndrome","AP1S1"]
["Medullary cystic kidney disease","UMOD","Medullary cystic kidney disease 2","UMOD"]
["Meesmann corneal dystrophy","KRT12,KRT3","Meesmann corneal dystrophy_KRT12","KRT12"]
[null,null,"Meesmann corneal dystrophy_KRT3","KRT3"]
["Megalencephalic leukoencephalopathy with subcortical cysts","HEPACAM,MLC1","Megalencephalic leukoencephalopathy with subcortical cysts 2A","HEPACAM"]
[null,null,"Megalencephalic leukoencephalopathy with subcortical cysts","MLC1"]
["Megaloblastic anemia","AMN,CUBN,DHFR,MTR,MTRR,SLC19A2","Megaloblastic anemia-1, Norwegian type","AMN"]
[null,null,"Megaloblastic anemia-1, Finnish type","CUBN"]
[null,null,"Megaloblastic anemia due to dihydrofolate reductase deficiency","DHFR"]
[null,null,"Homocystinuria-megaloblastic anemia, cblG complementation type","MTR"]
[null,null,"Homocystinuria-megaloblastic anemia, cbl E type","MTRR"]
[null,null,"Thiamine-responsive megaloblastic anemia syndrome","SLC19A2"]
["Meier-Gorlin syndrome","CDC45,CDC6,CDT1,GMNN,MCM5,ORC1,ORC4,ORC6","Meier-Gorlin syndrome 7","CDC45"]
[null,null,"Meier-Gorlin syndrome 5","CDC6"]
[null,null,"Meier-Gorlin syndrome 4","CDT1"]
[null,null,"Meier-Gorlin syndrome 6","GMNN"]
[null,null,"Meier-Gorlin syndrome 8 ","MCM5"]
[null,null,"Meier-Gorlin syndrome 1","ORC1"]
[null,null,"Meier-Gorlin syndrome 2","ORC4"]
[null,null,"Meier-Gorlin syndrome 3","ORC6"]
["Meleda disease","SLURP1","Meleda disease","SLURP1"]
["Mental retardation, anterior maxillary protrusion, and strabismus","SOBP","Mental retardation, anterior maxillary protrusion, and strabismus","SOBP"]
["Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type","BHLHA9","Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type","BHLHA9"]
["Metacarpal 4-5 fusion","FGF16","Metacarpal 4-5 fusion","FGF16"]
["Metachromatic leukodystrophy","ARSA,PSAP","Metachromatic leukodystrophy","ARSA"]
[null,null,"Metachromatic leukodystrophy due to SAP-b deficiency","PSAP"]
["Metaphyseal anadysplasia","COL10A1,MMP13,MMP9,PTH1R,RMRP,RUNX2","Metaphyseal chondrodysplasia, Schmid type","COL10A1"]
[null,null,"Metaphyseal anadysplasia 1","MMP13"]
[null,null,"Metaphyseal anadysplasia 2","MMP9"]
[null,null,"Metaphyseal chondrodysplasia, Murk Jansen type","PTH1R"]
[null,null,"Metaphyseal dysplasia without hypotrichosis","RMRP"]
[null,null,"Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly","RUNX2"]
["Methemoglobinemia","CYB5A,CYB5R3","Methemoglobinemia, type IV","CYB5A"]
[null,null,"Methemoglobinemia, type I and type II","CYB5R3"]
["Methylmalonate semialdehyde dehydrogenase deficiency","ALDH6A1","Methylmalonate semialdehyde dehydrogenase deficiency","ALDH6A1"]
["Methylmalonic aciduria","ABCD4,ACSF3,LMBRD1,MCEE,MMAA,MMAB,MMACHC,MMADHC,MUT","Methylmalonic aciduria and homocystinuria, cblJ type","ABCD4"]
[null,null,"Combined malonic and methylmalonic aciduria","ACSF3"]
[null,null,"Methylmalonic aciduria and homocystinuria, cblF type","LMBRD1"]
[null,null,"Methylmalonyl-CoA epimerase deficiency","MCEE"]
[null,null,"Methylmalonic aciduria, vitamin B12-responsive","MMAA"]
[null,null,"Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type","MMAB"]
[null,null,"Methylmalonic aciduria and homocystinuria, cblC type","MMACHC"]
[null,null,"Methylmalonic aciduria and homocystinuria, cblD type","MMADHC"]
[null,null,"Methylmalonic aciduria, mut(0) type","MUT"]
["Mevalonic aciduria","MVK","Mevalonic aciduria","MVK"]
["MICROCEPHALIC DWARFISM","DONSON","Microcephaly, short stature, and limb abnormalities","DONSON"]
["Microcephalic osteodysplastic primordial dwarfism","PCNT,RNU4ATAC","Microcephalic osteodysplastic primordial dwarfism, type II","PCNT"]
[null,null,"Microcephalic osteodysplastic primordial dwarfism, type I","RNU4ATAC"]
["Microcephaly","ANKLE2,ARFGEF2,ASPM,ATRX,CASC5,CASK,CDK5RAP2,CDK6,CENPE,CENPJ,CEP135,CEP152,CIT,IER3IP1,KAT6A,KATNB1,KIF11,KIF14,MCPH1,MED17,MFSD2A,MSMO1,NCAPD2,NDE1,PCDHB4,PCNT,PHC1,PLK4,PPP1R15B,PYCR2,QARS,RNU4ATAC,RTTN,SASS6,SLC25A19,SLC9A6,SPATA5,SPDL1,STAMBP,STIL,TCF4,TRMT10A,TUBGCP4,TUBGCP6,UBE3A,WDFY3,WDR62,ZEB2,ZNF335","Microcephaly 16, primary, autosomal recessive","ANKLE2"]
[null,null,"Periventricular heterotopia with microcephaly","ARFGEF2"]
[null,null,"Microcephaly 5, primary, autosomal recessive","ASPM"]
[null,null,"Alpha-thalassemia/mental retardation syndrome","ATRX"]
[null,null,"Microcephaly 4, primary, autosomal recessive","CASC5"]
[null,null,"Mental retardation and microcephaly with pontine and cerebellar hypoplasia","CASK"]
[null,null,"Microcephaly 3, primary, autosomal recessive","CDK5RAP2"]
[null,null,"Microcephaly 12, primary, autosomal recessive","CDK6"]
[null,null,"Microcephaly 13, primary, autosomal recessive","CENPE"]
[null,null,"Microcephaly 6, primary, autosomal recessive","CENPJ"]
[null,null,"Microcephaly 8, primary, autosomal recessive","CEP135"]
[null,null,"Microcephaly 9, primary, autosomal recessive","CEP152"]
[null,null,"Microcephaly 17, primary, autosomal recessive","CIT"]
[null,null,"Microcephaly, epilepsy, and diabetes syndrome","IER3IP1"]
[null,null,"Microcephaly and global developmental delay","KAT6A"]
[null,null,"Microcephaly, lissencephaly, brain malformations, seizures","KATNB1"]
[null,null,"Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation","KIF11"]
[null,null,"Microcephaly_KIF14","KIF14"]
[null,null,"Microcephaly 1, primary, autosomal recessive","MCPH1"]
[null,null,"Microcephaly, postnatal progressive, with seizures and brain atrophy","MED17"]
[null,null,"Microcephaly 15, primary, autosomal recessive","MFSD2A"]
[null,null,"Microcephaly, congenital cataract, and psoriasiform dermatitis","MSMO1"]
[null,null,"Microcephaly 21, primary, autosomal recessive","NCAPD2"]
[null,null,"Lissencephaly 4 (with microcephaly)","NDE1"]
[null,null,"Microcephaly, global developmental delay","PCDHB4"]
[null,null,"Microcephalic osteodysplastic primordial dwarfism, type II","PCNT"]
[null,null,"Microcephaly 11, primary, autosomal recessive","PHC1"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 2","PLK4"]
[null,null,"Microcephaly, short stature, and impaired glucose metabolism 2","PPP1R15B"]
[null,null,"Leukodystrophy, hypomyelinating, 10","PYCR2"]
[null,null,"Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures","QARS"]
[null,null,"Microcephalic osteodysplastic primordial dwarfism, type I","RNU4ATAC"]
[null,null,"Microcephaly, short stature, and polymicrogyria with seizures","RTTN"]
[null,null,"Microcephaly 14, primary, autosomal recessive","SASS6"]
[null,null,"Microcephaly, Amish type","SLC25A19"]
[null,null,"Mental retardation, X-linked syndromic, Christianson type","SLC9A6"]
[null,null,"Epilepsy, hearing loss, and mental retardation syndrome","SPATA5"]
[null,null,"Microcephaly, neonatal death","SPDL1"]
[null,null,"Microcephaly-capillary malformation syndrome","STAMBP"]
[null,null,"Microcephaly 7, primary, autosomal recessive","STIL"]
[null,null,"Pitt-Hopkins syndrome","TCF4"]
[null,null,"Microcephaly, short stature, and impaired glucose metabolism 1","TRMT10A"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 3","TUBGCP4"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 1","TUBGCP6"]
[null,null,"Angelman syndrome","UBE3A"]
[null,null,"Microcephaly 18, primary, autosomal dominant","WDFY3"]
[null,null,"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations","WDR62"]
[null,null,"Mowat-Wilson syndrome","ZEB2"]
[null,null,"Microcephaly 10, primary, autosomal recessive","ZNF335"]
["Microcephaly and chorioretinopathy, autosomal recessive","KIF11,PLK4,TUBGCP4,TUBGCP6","Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation","KIF11"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 2","PLK4"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 3","TUBGCP4"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 1","TUBGCP6"]
["Microcephaly, congenital cataract, and psoriasiform dermatitis","MSMO1","Microcephaly, congenital cataract, and psoriasiform dermatitis","MSMO1"]
["Microcephaly, short stature, and impaired glucose metabolism","PPP1R15B,TRMT10A","Microcephaly, short stature, and impaired glucose metabolism 2","PPP1R15B"]
[null,null,"Microcephaly, short stature, and impaired glucose metabolism 1","TRMT10A"]
["Microphthalmia with limb anomalies","SMOC1","Microphthalmia with limb anomalies","SMOC1"]
["Microphthalmia, isolated","ALDH1A3,GDF3,GDF6,MFRP,PRSS56,RAX,VSX2","Microphthalmia, isolated 8","ALDH1A3"]
[null,null,"Microphthalmia, isolated 7","GDF3"]
[null,null,"Microphthalmia, isolated 4","GDF6"]
[null,null,"Microphthalmia, isolated 5","MFRP"]
[null,null,"Microphthalmia, isolated 6","PRSS56"]
[null,null,"Microphthalmia, isolated 3","RAX"]
[null,null,"Microphthalmia, isolated 2","VSX2"]
["Microphthalmia, isolated, with coloboma","ABCB6,GDF3,RBP4,SHH,STRA6,TENM3,VSX2","Microphthalmia, isolated, with coloboma 7","ABCB6"]
[null,null,"Microphthalmia with coloboma 6","GDF3"]
[null,null,"Microphthalmia, isolated, with coloboma 10","RBP4"]
[null,null,"Microphthalmia with coloboma 5","SHH"]
[null,null,"Microphthalmia, isolated, with coloboma 8","STRA6"]
[null,null,"Microphthalmia with coloboma 9","TENM3"]
[null,null,"Microphthalmia with coloboma 3","VSX2"]
["Microphthalmia, syndromic","BCOR,BMP4,C12orf57,HCCS,HMGB3,MAB21L2,MAF,NAA10,OTX2,RARB,SMCHD1,SOX2,STRA6,VAX1","Microphthalmia, syndromic 2","BCOR"]
[null,null,"Microphthalmia, syndromic 6","BMP4"]
[null,null,"Temtamy syndrome","C12orf57"]
[null,null,"Microphthalmia, syndromic 7 / Linear skin defects","HCCS"]
[null,null,"Microphthalmia, syndromic 13","HMGB3"]
[null,null,"Microphthalmia, syndromic 14","MAB21L2"]
[null,null,"Ayme-Gripp syndrome","MAF"]
[null,null,"Microphthalmia, syndromic 1","NAA10"]
[null,null,"Microphthalmia, syndromic 5","OTX2"]
[null,null,"Microphthalmia, syndromic 12","RARB"]
[null,null,"Arhinia microphthalmia","SMCHD1"]
[null,null,"Microphthalmia, syndromic 3","SOX2"]
[null,null,"Microphthalmia, syndromic 9","STRA6"]
[null,null,"Microphthalmia, syndromic 11","VAX1"]
["Microtia","HOXA2","Microtia with or without hearing impairment","HOXA2"]
["Midaortic arch syndrome","ACTA2,ALDH18A1,ARHGAP31,BRCC3,DOCK6,EFEMP2,EIF4H,ELN,EOGT,FBLN5,GATA6,HRAS,JAG1,LIMK1,LTBP2,MEF2A,MGP,MLXIPL,NF1,NKX2-5,NKX2-6,NOTCH2,RBPJ,RFC2,RNF213,SLC2A10,SMAD3,SMAD6,STRA6,TBX1,TBX5,TGFB2,TGFB3,TGFBR1,TGFBR2,ZIC3","Aortic aneurysm, familial thoracic 6","ACTA2"]
[null,null,"Cutis laxa, autosomal dominant 3","ALDH18A1"]
[null,null,"Adams-Oliver syndrome 1","ARHGAP31"]
[null,null,"Moyamoya disease_BRCC3","BRCC3"]
[null,null,"Adams-Oliver syndrome 2","DOCK6"]
[null,null,"Cutis laxa, autosomal recessive, type IB","EFEMP2"]
[null,null,"Williams syndrome critical region_EIF4H","EIF4H"]
[null,null,"Aortic supravalvular stenosis","ELN"]
[null,null,"Adams-Oliver syndrome 4","EOGT"]
[null,null,"Cutis laxa, autosomal dominant 2","FBLN5"]
[null,null,"Conotruncal heart malformations_GATA6","GATA6"]
[null,null,"Costello syndrome","HRAS"]
[null,null,"Alagille syndrome 1","JAG1"]
[null,null,"Williams syndrome critical region_LIMK1","LIMK1"]
[null,null,"Weill-Marchesani syndrome 3, recessive","LTBP2"]
[null,null,"Coronary artery disease, autosomal dominant, 1","MEF2A"]
[null,null,"Keutel syndrome","MGP"]
[null,null,"Williams syndrome critical region_MLXIPL","MLXIPL"]
[null,null,"Neurofibromatosis 1","NF1"]
[null,null,"Conotruncal heart malformations_NKX2-5","NKX2-5"]
[null,null,"Conotruncal heart malformations_NKX2-6","NKX2-6"]
[null,null,"Alagille syndrome 2","NOTCH2"]
[null,null,"Adams-Oliver syndrome 3","RBPJ"]
[null,null,"Williams syndrome critical region_RFC2","RFC2"]
[null,null,"Moyamoya disease 2, susceptibility to","RNF213"]
[null,null,"Arterial tortuosity syndrome","SLC2A10"]
[null,null,"Loeys-Dietz syndrome 3","SMAD3"]
[null,null,"Aortic valve disease 2","SMAD6"]
[null,null,"Microphthalmia, isolated, with coloboma 8","STRA6"]
[null,null,"Velocardiofacial syndrome","TBX1"]
[null,null,"Holt-Oram syndrome","TBX5"]
[null,null,"Loeys-Dietz syndrome 4","TGFB2"]
[null,null,"Loeys-Dietz syndrome 5","TGFB3"]
[null,null,"Loeys-Dietz syndrome 1","TGFBR1"]
[null,null,"Loeys-Dietz syndrome 2","TGFBR2"]
[null,null,"Congenital heart defects, multiple types, 1","ZIC3"]
["Miller syndrome","DHODH","Miller syndrome","DHODH"]
["MIRAGE syndrome","SAMD9","MIRAGE syndrome","SAMD9"]
["Mirror movements, congenital","DCC,DNAL4,NTN1","Mirror movements, congenital","DCC"]
[null,null,"Mirror movements 3","DNAL4"]
[null,null,"Congenital mirror movements_NTN1","NTN1"]
["Mitchell-Riley syndrome","RFX6","Mitchell-Riley syndrome","RFX6"]
["Mitochondrial complex I deficiency","ACAD9,FOXRED1,NDUFA1,NDUFA10,NDUFA11,NDUFAF1,NDUFAF2,NDUFAF3,NDUFAF4,NDUFAF5,NDUFB3,NDUFB9,NDUFS1,NDUFS2,NDUFS3,NDUFS4,NDUFS6,NDUFV1,NDUFV2,NUBPL,TMEM126B","Mitochondrial complex I deficiency due to ACAD9 deficiency","ACAD9"]
[null,null,"Mitochondrial complex I deficiency_FOXRED1","FOXRED1"]
[null,null,"Mitochondrial complex I deficiency_NDUFA1","NDUFA1"]
[null,null,"Mitochondrial complex I deficiency_NDUFA10","NDUFA10"]
[null,null,"Mitochondrial complex I deficiency_NDUFA11","NDUFA11"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF1","NDUFAF1"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF2","NDUFAF2"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF3","NDUFAF3"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF4","NDUFAF4"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF5","NDUFAF5"]
[null,null,"Mitochondrial complex I deficiency_NDUFB3","NDUFB3"]
[null,null,"Mitochondrial complex I deficiency_NDUFB9","NDUFB9"]
[null,null,"Mitochondrial complex I deficiency_NDUFS1","NDUFS1"]
[null,null,"Mitochondrial complex I deficiency_NDUFS2","NDUFS2"]
[null,null,"Mitochondrial complex I deficiency_NDUFS3","NDUFS3"]
[null,null,"Mitochondrial complex I deficiency_NDUFS4","NDUFS4"]
[null,null,"Mitochondrial complex I deficiency_NDUFS6","NDUFS6"]
[null,null,"Mitochondrial complex I deficiency_NDUFV1","NDUFV1"]
[null,null,"Mitochondrial complex I deficiency_NDUFV2","NDUFV2"]
[null,null,"Mitochondrial complex I deficiency_NUBPL","NUBPL"]
[null,null,"Mitochondrial complex I deficiency","TMEM126B"]
["Mitochondrial complex II deficiency","SDHA,SDHAF1,SDHD","Mitochondrial complex II deficiency_SDHA","SDHA"]
[null,null,"Mitochondrial complex II deficiency_SDHAF1","SDHAF1"]
[null,null,"Mitochondrial complex II deficiency_SDHD","SDHD"]
["Mitochondrial complex III deficiency","BCS1L,C11orf83,CYC1,LYRM7,TTC19,UQCRB,UQCRC2,UQCRQ","Mitochondrial complex III deficiency, nuclear type 1","BCS1L"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 9","C11orf83"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 6","CYC1"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 8","LYRM7"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 2","TTC19"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 3","UQCRB"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 5","UQCRC2"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 4","UQCRQ"]
["Mitochondrial complex IV deficiency","APOPT1,COA5,COX10,COX14,COX20,COX4I1,COX6B1,COX7A1,COX8A,FASTKD2,PET100,SCO1,TACO1","Mitochondrial complex IV deficiency_APOPT1","APOPT1"]
[null,null,"Mitochondrial complex IV deficiency_COA5","COA5"]
[null,null,"Mitochondrial complex IV deficiency_COX10","COX10"]
[null,null,"Mitochondrial complex IV deficiency_COX14","COX14"]
[null,null,"Mitochondrial complex IV deficiency_COX20","COX20"]
[null,null,"Cytochrome c oxidase deficiency-candidate 1","COX4I1"]
[null,null,"Mitochondrial complex IV deficiency_COX6B1","COX6B1"]
[null,null,"Cytochrome c oxidase deficiency-candidate 2","COX7A1"]
[null,null,"Mitochondrial complex IV deficiency_COX8A","COX8A"]
[null,null,"Mitochondrial complex IV deficiency_FASTKD2","FASTKD2"]
[null,null,"Mitochondrial complex IV deficiency_PET100","PET100"]
[null,null,"Mitochondrial complex IV deficiency_SCO1","SCO1"]
[null,null,"Mitochondrial complex IV deficiency_TACO1","TACO1"]
["Mitochondrial complex V (ATP synthase) deficiency","ATP5A1,ATP5E,ATPAF2,TMEM70","Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4","ATP5A1"]
[null,null,"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3","ATP5E"]
[null,null,"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1","ATPAF2"]
[null,null,"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2","TMEM70"]
["Mitochondrial DNA depletion syndrome","AGK,C10orf2,DGUOK,FBXL4,MGME1,MPV17,OPA1,POLG,RRM2B,SLC25A4,SUCLA2,SUCLG1,TFAM,TK2,TYMP","Mitochondrial DNA depletion syndrome 10","AGK"]
[null,null,"Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)","C10orf2"]
[null,null,"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)","DGUOK"]
[null,null,"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)","FBXL4"]
[null,null,"Mitochondrial DNA depletion syndrome 11","MGME1"]
[null,null,"Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)","MPV17"]
[null,null,"Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)","OPA1"]
[null,null,"Mitochondrial DNA depletion syndrome 4A, 4B","POLG"]
[null,null,"Mitochondrial DNA depletion syndrome 8A, 8B","RRM2B"]
[null,null,"Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)","SLC25A4"]
[null,null,"Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)","SUCLA2"]
[null,null,"Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)","SUCLG1"]
[null,null,"Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)","TFAM"]
[null,null,"Mitochondrial DNA depletion syndrome 2 (myopathic type)","TK2"]
[null,null,"Mitochondrial DNA depletion syndrome 1 (MNGIE type)","TYMP"]
["Mitochondrial phosphate carrier deficiency","SLC25A3","Mitochondrial phosphate carrier deficiency","SLC25A3"]
["Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency","ECHS1","Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency","ECHS1"]
["Molybdenum cofactor deficiency","GPHN,MOCS1,MOCS2","Molybdenum cofactor deficiency C","GPHN"]
[null,null,"Molybdenum cofactor deficiency A","MOCS1"]
[null,null,"Molybdenum cofactor deficiency B","MOCS2"]
["Monilethrix","KRT81,KRT83,KRT86","Monilethrix 1","KRT81"]
[null,null,"Monilethrix 2","KRT83"]
[null,null,"Monilethrix 3","KRT86"]
["Monogenic low-renin hypertension","CUL3,GNAS,HSD11B2,KLHL3,NR3C2,SCNN1A,SCNN1B,SCNN1G,WNK1,WNK4","Pseudohypoaldosteronism type IIE_CUL3","CUL3"]
[null,null,"Pseudohypoaldosteronism, type IA","GNAS"]
[null,null,"Apparent mineralcorticoid excess","HSD11B2"]
[null,null,"Pseudohypoaldosteronism, type IID","KLHL3"]
[null,null,"Pseudohypoaldosteronism type IIE_NR3C2","NR3C2"]
[null,null,"Pseudohypoaldosteronism, type I, autosomal recessive 1","SCNN1A"]
[null,null,"Pseudohypoaldosteronism, type I, autosomal recessive 2","SCNN1B"]
[null,null,"Pseudohypoaldosteronism, type I, autosomal recessive 3","SCNN1G"]
[null,null,"Pseudohypoaldosteronism, type IIC","WNK1"]
[null,null,"Pseudohypoaldosteronism, type IIB","WNK4"]
["Morbid obesity and spermatogenic failure","CEP19","Morbid obesity and spermatogenic failure","CEP19"]
["Mosaic variegated aneuploidy syndrome","BUB1B,CEP57,TRIP13","Mosaic variegated aneuploidy syndrome 1","BUB1B"]
[null,null,"Mosaic variegated aneuploidy syndrome 2","CEP57"]
[null,null,"Mosaic variegated aneuploidy syndrome 3","TRIP13"]
["Motor neuron disease","ALS2,ANG,ANXA11,ARHGEF28,ASAH1,ASCC1,ATP7A,BICD2,BSCL2,CHCHD10,CHMP2B,DCTN1,DDHD2,DGUOK,DNAJB2,DYNC1H1,ERBB4,EXOSC3,FBXO38,FIG4,FUS,GARS,HNRNPA1,HSPB1,HSPB3,HSPB8,IGHMBP2,MATR3,NEFH,NEK1,OPTN,PFN1,PLEKHG5,REEP1,SCO2,SETX,SIGMAR1,SLC25A46,SLC5A7,SOD1,SPAST,SPG11,SPG20,SQSTM1,TARDBP,TECPR2,TFG,TIA1,TK2,TRIP4,TRPV4,TUBA4A,UBA1,UBQLN2,VAPB,VCP,VRK1","Amyotrophic lateral sclerosis 2, juvenile","ALS2"]
[null,null,"Amyotrophic lateral sclerosis 9","ANG"]
[null,null,"Amytrophic lateral sclerosis 23","ANXA11"]
[null,null,"Amyotrophic lateral sclerosis","ARHGEF28"]
[null,null,"Proximal SMA with myoclonic epilepsy","ASAH1"]
[null,null,"Spinal muscular atrophy with congenital bone fractures 2","ASCC1"]
[null,null,"Spinal muscular atrophy, X-linked, proximal_ATP7A","ATP7A"]
[null,null,"Spinal muscular atrophy, dominant, proximal 2","BICD2"]
[null,null,"Neuronopathy, distal hereditary motor, type VC","BSCL2"]
[null,null,"Spinal muscular atrophy, Jokela type","CHCHD10"]
[null,null,"Amyotrophic lateral sclerosis 17","CHMP2B"]
[null,null,"Neuronopathy, distal hereditary motor, type VIIB","DCTN1"]
[null,null,"Spastic paraplegia 54, autosomal recessive","DDHD2"]
[null,null,"Spinal muscular atrophy, recessive, proximal_DGUOK","DGUOK"]
[null,null,"Spinal muscular atrophy, distal, autosomal recessive, 5","DNAJB2"]
[null,null,"Spinal muscular atrophy, dominant, proximal 1","DYNC1H1"]
[null,null,"Amyotrophic lateral sclerosis 19","ERBB4"]
[null,null,"SMA + cerebellar hypoplasia_EXOSC3","EXOSC3"]
[null,null,"Neuronopathy, distal hereditary motor, type IID","FBXO38"]
[null,null,"Amyotrophic lateral sclerosis 11","FIG4"]
[null,null,"Amyotrophic lateral sclerosis 6","FUS"]
[null,null,"Neuropathy, distal hereditary motor, type VA","GARS"]
[null,null,"Amyotrophic lateral sclerosis 20","HNRNPA1"]
[null,null,"Neuronopathy, distal hereditary motor, type IIB","HSPB1"]
[null,null,"Neuronopathy, distal hereditary motor, type IIC","HSPB3"]
[null,null,"Neuronopathy, distal hereditary motor, type IIA","HSPB8"]
[null,null,"Neuronopathy, distal hereditary motor, type VI","IGHMBP2"]
[null,null,"Amyotrophic lateral sclerosis 21","MATR3"]
[null,null,"ALS candidate genes","NEFH"]
[null,null,"Amyotrophic lateral sclerosis susceptibility_NEK1","NEK1"]
[null,null,"Amyotrophic lateral sclerosis 12","OPTN"]
[null,null,"Amyotrophic lateral sclerosis 18","PFN1"]
[null,null,"Spinal muscular atrophy, distal, autosomal recessive, 4","PLEKHG5"]
[null,null,"Neuronopathy, distal hereditary motor, type VB","REEP1"]
[null,null,"Spinal muscular atrophy, recessive, proximal_SCO2","SCO2"]
[null,null,"Amyotrophic lateral sclerosis 4","SETX"]
[null,null,"Amyotrophic lateral sclerosis 16","SIGMAR1"]
[null,null,"Neuropathy, hereditary motor and sensory, type VIB","SLC25A46"]
[null,null,"Neuronopathy, distal hereditary motor, type VIIA","SLC5A7"]
[null,null,"Amyotrophic lateral sclerosis 1","SOD1"]
[null,null,"Spastic paraplegia 4","SPAST"]
[null,null,"Amyotrophic lateral sclerosis 5, juvenile","SPG11"]
[null,null,"Troyer syndrome","SPG20"]
[null,null,"Frontotemporal dementia and/or amyotrophic lateral sclerosis 3","SQSTM1"]
[null,null,"Amyotrophic lateral sclerosis 10,","TARDBP"]
[null,null," Spastic paraplegia 49","TECPR2"]
[null,null,"Hereditary motor and sensory neuropathy, Okinawa type","TFG"]
[null,null,"Amyotrophic lateral sclerosis_TIA1","TIA1"]
[null,null,"Spinal muscular atrophy, recessive, proximal_TK2","TK2"]
[null,null,"Spinal muscular atrophy with congenital bone fractures 1","TRIP4"]
[null,null,"Neuronopathy, distal hereditary motor_TRPV4","TRPV4"]
[null,null,"Amyotrophic lateral sclerosis 22","TUBA4A"]
[null,null,"Spinal muscular atrophy, X-linked 2, infantile","UBA1"]
[null,null,"Amyotrophic lateral sclerosis 15","UBQLN2"]
[null,null,"Amyotrophic lateral sclerosis 8","VAPB"]
[null,null,"Amyotrophic lateral sclerosis 14","VCP"]
[null,null,"SMA + cerebellar hypoplasia_VRK1","VRK1"]
["Moyamoya","ACTA2,GUCY1A3","Moyamoya disease 5","ACTA2"]
[null,null,"Moyamoya 6 with achalasia","GUCY1A3"]
["Muckle-Wells syndrome","NLRP3","Muckle-Wells syndrome","NLRP3"]
["Mucolipidosis","GNPTG,MCOLN1","Mucolipidosis III gamma","GNPTG"]
[null,null,"Mucolipidosis IV","MCOLN1"]
["Mucopolysaccharidisis type IIIA (Sanfilippo A)","SGSH","Mucopolysaccharidisis type IIIA (Sanfilippo A)","SGSH"]
["Mucopolysaccharidosis","ARSB,GALNS,GLB1,GNS,GUSB,HGSNAT,HYAL1,IDS,IDUA,NAGLU,SGSH,VPS33A","Mucopolysaccharidosis type VI (Maroteaux-Lamy)","ARSB"]
[null,null,"Mucopolysaccharidosis IVA (Morquio syndrome A)","GALNS"]
[null,null,"Mucopolysaccharidosis type IVB (Morquio)","GLB1"]
[null,null,"Mucopolysaccharidosis type IIID / San Filippo syndrome D","GNS"]
[null,null,"Mucopolysaccharidosis VII (Sly syndrome)","GUSB"]
[null,null,"Mucopolysaccharidosis type IIIC (Sanfilippo C)","HGSNAT"]
[null,null,"Mucopolysaccharidosis type IX","HYAL1"]
[null,null,"Mucopolysaccharidosis II (Hunter syndrome)","IDS"]
[null,null,"Mucopolysaccharidosis Is (Hurler)","IDUA"]
[null,null,"Mucopolysaccharidosis type IIIB (Sanfilippo B)","NAGLU"]
[null,null,"Mucopolysaccharidisis type IIIA (Sanfilippo A)","SGSH"]
[null,null,"mucopolysaccharidosis-plus syndrome","VPS33A"]
["Mucopolysaccharidosis Is (Hurler)","IDUA","Mucopolysaccharidosis Is (Hurler)","IDUA"]
["Mucopolysaccharidosis IVA (Morquio syndrome A)","GALNS","Mucopolysaccharidosis IVA (Morquio syndrome A)","GALNS"]
["Mucopolysaccharidosis type IIIB (Sanfilippo B)","NAGLU","Mucopolysaccharidosis type IIIB (Sanfilippo B)","NAGLU"]
["Mucopolysaccharidosis type IIIC (Sanfilippo C)","HGSNAT","Mucopolysaccharidosis type IIIC (Sanfilippo C)","HGSNAT"]
["Mucopolysaccharidosis type IIID / San Filippo syndrome D","GNS","Mucopolysaccharidosis type IIID / San Filippo syndrome D","GNS"]
["Mucopolysaccharidosis type IVB (Morquio)","GLB1","Mucopolysaccharidosis type IVB (Morquio)","GLB1"]
["Mucopolysaccharidosis type IX","HYAL1","Mucopolysaccharidosis type IX","HYAL1"]
["Mucopolysaccharidosis type VI (Maroteaux-Lamy)","ARSB","Mucopolysaccharidosis type VI (Maroteaux-Lamy)","ARSB"]
["Mucopolysaccharidosis VII (Sly syndrome)","GUSB","Mucopolysaccharidosis VII (Sly syndrome)","GUSB"]
["mucopolysaccharidosis-plus syndrome","VPS33A","mucopolysaccharidosis-plus syndrome","VPS33A"]
["Mulibrey nanism","TRIM37","Mulibrey nanism","TRIM37"]
["Multicentric carpotarsal osteolysis syndrome","MAFB","Multicentric carpotarsal osteolysis syndrome","MAFB"]
["Multicentric osteolysis, nodulosis, and arthropathy","MMP2","Multicentric osteolysis, nodulosis, and arthropathy","MMP2"]
["Multiple congenital anomalies-hypotonia-seizures syndrome","PIGA,PIGN,PIGT","Multiple congenital anomalies-hypotonia-seizures syndrome 2","PIGA"]
[null,null,"Multiple congenital anomalies-hypotonia-seizures syndrome 1","PIGN"]
[null,null,"Multiple congenital anomalies-hypotonia-seizures syndrome 3","PIGT"]
["Multiple endocrine neoplasia","CDKN1B,MEN1,RET","Multiple endocrine neoplasia IV","CDKN1B"]
[null,null,"Multiple endocrine neoplasia 1","MEN1"]
[null,null,"Multiple endocrine neoplasia IIA IIB","RET"]
["Multiple epiphyseal dysplasia","CANT1,COL2A1,COL9A1,COL9A2,COL9A3,COMP,EIF2AK3,MATN3,SLC26A2","Epiphyseal dysplasia, multiple, 7","CANT1"]
[null,null,"Epiphyseal dysplasia, multiple, with myopia and deafness","COL2A1"]
[null,null,"Epiphyseal dysplasia, multiple, 6","COL9A1"]
[null,null,"Epiphyseal dysplasia, multiple, 2","COL9A2"]
[null,null,"Epiphyseal dysplasia, multiple, 3","COL9A3"]
[null,null,"Epiphyseal dysplasia, multiple 1","COMP"]
[null,null,"Wolcott-Rallison syndrome","EIF2AK3"]
[null,null,"Epiphyseal dysplasia, multiple, 5","MATN3"]
[null,null,"Epiphyseal dysplasia, multiple, 4","SLC26A2"]
["Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects","B3GAT3","Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects","B3GAT3"]
["Multiple mitochondrial dysfunctions syndrome","BOLA3,IBA57,ISCA2,NFU1","Multiple mitochondrial dysfunctions syndrome 2","BOLA3"]
[null,null,"Multiple mitochondrial dysfunctions syndrome 3","IBA57"]
[null,null,"Multiple mitochondrial dysfunctions syndrome 4","ISCA2"]
[null,null,"Multiple mitochondrial dysfunctions syndrome 1","NFU1"]
["Multiple pterygium syndrome","CHRNA1,CHRND,CHRNG","Multiple pterygium syndrome 1","CHRNA1"]
[null,null,"Multiple pterygium syndrome 2","CHRND"]
[null,null,"Multiple pterygium syndrome 3","CHRNG"]
["Multiple sulfatase deficiency","SUMF1","Multiple sulfatase deficiency","SUMF1"]
["Multiple synostoses syndrome","FGF9,GDF5,NOG","Multiple synostoses syndrome 3","FGF9"]
[null,null,"Multiple synostoses syndrome 2","GDF5"]
[null,null,"Multiple synostoses syndrome 1","NOG"]
["Muscle disease","ACTA1,ACTG2,ADSSL1,AGRN,ALG14,ALG2,AMPD1,ANO5,ATP7A,B3GALNT2,B3GNT1,BAG3,BIN1,BVES,CACNA1S,CAPN3,CASQ1,CAV3,CCDC78,CFL2,CHAT,CHKB,CHRNA1,CHRNB1,CHRND,CHRNE,CLCN1,CNTN1,COL12A1,COL6A1,COL6A2,COL6A3,COLQ,CRYAB,DAG1,DES,DMD,DNAJB6,DNM2,DOK7,DPAGT1,DYSF,EMD,FHL1,FKBP14,FKRP,FKTN,FLNC,GAA,GFER,GFPT1,GMPPB,GNE,GTDC2,HNRNPA1,HNRNPA2B1,HNRNPDL,HSPB8,INPP5K,ISCU,ISPD,ITGA7,KBTBD13,KCNJ2,KLHL40,KLHL41,KY,LAMA2,LAMP2,LARGE,LDB3,LIMS2,LMNA,LMOD3,LRP4,MEGF10,MICU1,MSTN,MTM1,MUSK,MYF6,MYH2,MYH7,MYL2,MYOT,MYPN,NDUFV2,NEB,ORAI1,PABPN1,PLEC,PNPLA2,POGLUT1,POMGNT1,POMT1,POMT2,PREPL,PTPLA,PYROXD1,RAPSN,RBCK1,RYR1,RYR3,SCN4A,SEPN1,SGCA,SGCB,SGCD,SGCG,SGK196,SLC18A3,SLC4A1,SMCHD1,SPEG,STAC3,STIM1,SYNE1,SYNE2,SYT2,TANGO2,TCAP,TIA1,TMEM43,TMEM5,TNNT1,TNPO3,TOR1AIP1,TPM2,TPM3,TRAPPC11,TRIM32,TRIP4,TTN,VCP,VMA21,ZAK","Myopathy, congenital, with fiber-type disproportion 1","ACTA1"]
[null,null,"Visceral myopathy","ACTG2"]
[null,null,"Myopathy, distal, 5","ADSSL1"]
[null,null,"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects","AGRN"]
[null,null,"Myasthenic syndrome, congenital, 15, without tubular aggregates","ALG14"]
[null,null,"Myasthenic syndrome, congenital, 14, with tubular aggregates","ALG2"]
[null,null,"Myopathy due to myoadenylate deaminase deficiency","AMPD1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2L","ANO5"]
[null,null,"Inclusion body myopathy / myositis ATP7A","ATP7A"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11","B3GALNT2"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13","B3GNT1"]
[null,null,"Myopathy, myofibrillar, 6","BAG3"]
[null,null,"Myopathy, centronuclear, autosomal recessive","BIN1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2X","BVES"]
[null,null,"Hypokalemic periodic paralysis, type 1","CACNA1S"]
[null,null,"Muscular dystrophy, limb-girdle, type 2A","CAPN3"]
[null,null,"Myopathy, vacuolar, with CASQ1 aggregates","CASQ1"]
[null,null,"Muscular dystrophy, limb-girdle, type 1C","CAV3"]
[null,null,"Myopathy, centronuclear, 4","CCDC78"]
[null,null,"Nemaline myopathy 7, autosomal recessive","CFL2"]
[null,null,"Myasthenic syndrome, congenital, associated with episodic apnea","CHAT"]
[null,null,"Muscular dystrophy, congenital, megaconial type","CHKB"]
[null,null,"Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRNA1","CHRNA1"]
[null,null,"Myasthenic syndrome, slow-channel congenital","CHRNB1"]
[null,null,"Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRND","CHRND"]
[null,null,"Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRNE","CHRNE"]
[null,null,"Myotonia congenita","CLCN1"]
[null,null,"Myopathy, congenital, Compton-North","CNTN1"]
[null,null,"Bethlem myopathy 2","COL12A1"]
[null,null,"Bethlem myopathy 1","COL6A1"]
[null,null,"Ullrich congenital muscular dystrophy 1_COL6A2","COL6A2"]
[null,null,"Bethlem myopathy","COL6A3"]
[null,null,"Myasthenic syndrome, congenital, 5","COLQ"]
[null,null,"Myopathy, myofibrillar, 2","CRYAB"]
[null,null,"Muscular dystrophy, limb-girdle, type 2P","DAG1"]
[null,null,"Inclusion body myopathy / myositis DES","DES"]
[null,null,"Duchenne/Becker","DMD"]
[null,null,"Muscular dystrophy, limb-girdle, type 1E","DNAJB6"]
[null,null,"Myopathy, centronuclear","DNM2"]
[null,null,"Myasthenic syndrome, congenital, 10","DOK7"]
[null,null,"Myasthenic syndrome, congenital, 13, with tubular aggregates","DPAGT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2B","DYSF"]
[null,null,"Emery-Dreifuss muscular dystrophy 1, X-linked","EMD"]
[null,null,"Scapuloperoneal myopathy, X-linked dominant","FHL1"]
[null,null,"Ehlers Danlos with myopathy","FKBP14"]
[null,null,"Muscular dystrophy, limb-girdle, type 2I","FKRP"]
[null,null,"Muscular dystrophy, limb-girdle, type 2M","FKTN"]
[null,null,"Myopathy, myofibrillar, 5","FLNC"]
[null,null,"Muscular dystrophy, limb-girdle, type 2V","GAA"]
[null,null,"Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay","GFER"]
[null,null,"Myasthenia, congenital, 12, with tubular aggregates","GFPT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2T","GMPPB"]
[null,null,"Inclusion body myopathy, autosomal recessive, 2 (Nonaka)","GNE"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8","GTDC2"]
[null,null,"Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia 3","HNRNPA1"]
[null,null,"Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2","HNRNPA2B1"]
[null,null,"Muscular dystrophy, limb-girdle, type 1G","HNRNPDL"]
[null,null,"Distal myopathy and motor neuropathy","HSPB8"]
[null,null,"Congenital Muscular Dystrophy with cataracts and Mild Cognitive Impairment","INPP5K"]
[null,null,"Myopathy with lactic acidosis, hereditary","ISCU"]
[null,null,"Muscular dystrophy, limb-girdle, type 2U","ISPD"]
[null,null,"Muscular dystrophy, congenital, due to ITGA7 deficiency","ITGA7"]
[null,null,"Nemaline myopathy 6, autosomal dominant","KBTBD13"]
[null,null,"Andersen syndrome","KCNJ2"]
[null,null,"Nemaline myopathy 8, autosomal recessive","KLHL40"]
[null,null,"Nemaline myopathy 9, autosomal recessive","KLHL41"]
[null,null,"Myopathy, myofibrillar, 7","KY"]
[null,null,"Muscular dystrophy, congenital merosin-deficient","LAMA2"]
[null,null,"Danon myopathy","LAMP2"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6","LARGE"]
[null,null,"Myopathy, myofibrillar, 4","LDB3"]
[null,null,"Muscular dystrophy, limb-girdle, type 2W","LIMS2"]
[null,null,"Muscular dystrophy, limb-girdle, type 1B","LMNA"]
[null,null,"Nemaline myopathy 10","LMOD3"]
[null,null,"Myasthenic syndrome, congenital, 17","LRP4"]
[null,null,"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset","MEGF10"]
[null,null,"Proximal myopathy, intellecutal disability, movement disorder","MICU1"]
[null,null,"Muscle hypertrophy","MSTN"]
[null,null,"Myotubular myopathy, X-linked","MTM1"]
[null,null,"Myasthenic syndrome, congenital, 9","MUSK"]
[null,null,"Myopathy, centronuclear, 3","MYF6"]
[null,null,"Inclusion body myopathy-3","MYH2"]
[null,null,"Myopathy, myosin storage","MYH7"]
[null,null,"Myopathy congenital_MYL2","MYL2"]
[null,null,"Myopathy, myofibrillar, 3","MYOT"]
[null,null,"Nemaline myopathy 11, autosomal recessive","MYPN"]
[null,null,"Hypertrophic cardiomyopathy and encephalopathy with or without hypotonia","NDUFV2"]
[null,null,"Nemaline myopathy 2, autosomal recessive","NEB"]
[null,null," Myopathy, tubular aggregate, 2","ORAI1"]
[null,null,"Oculopharyngeal muscular dystrophy","PABPN1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2Q","PLEC"]
[null,null,"Neutral lipid storage disease with myopathy","PNPLA2"]
[null,null,"Muscular dystrophy, limb-girdle, type 2Z","POGLUT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2O","POMGNT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2K","POMT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2N","POMT2"]
[null,null,"Myasthenic syndrome, congenital, 22","PREPL"]
[null,null,"Myopathy congenital_PTPLA","PTPLA"]
[null,null,"Myopathy, myofibrillar, 8","PYROXD1"]
[null,null,"Myasthenic syndrome, congenital, 11","RAPSN"]
[null,null,"Polyglucosan body myopathy 1 with or without immunodeficiency","RBCK1"]
[null,null,"Central core disease","RYR1"]
[null,null,"Nemaline myopathy_RYR3","RYR3"]
[null,null,"Myasthenic syndrome, congenital, 16","SCN4A"]
[null,null,"Myopathy, congenital, with fiber-type disproportion","SEPN1"]
[null,null,"Muscular dystrophy, limb-girdle, type 2D","SGCA"]
[null,null,"Muscular dystrophy, limb-girdle, type 2E","SGCB"]
[null,null,"Muscular dystrophy, limb-girdle, type 2F","SGCD"]
[null,null,"Muscular dystrophy, limb-girdle, type 2C","SGCG"]
[null,null,"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12","SGK196"]
[null,null,"Myasthenic syndrome, congenital, 21, presynaptic","SLC18A3"]
[null,null,"Renal tubular acidosis, distal, AD","SLC4A1"]
[null,null,"FSHD2","SMCHD1"]
[null,null,"Centronuclear Myopathy with Dilated Cardiomyopathy","SPEG"]
[null,null,"Native American myopathy","STAC3"]
[null,null," Myopathy, tubular aggregate, 1","STIM1"]
[null,null,"Emery-Dreifuss muscular dystrophy 4, autosomal dominant","SYNE1"]
[null,null,"Emery-Dreifuss muscular dystrophy 5, autosomal dominant","SYNE2"]
[null,null,"Myasthenic syndrome, congenital, 7","SYT2"]
[null,null,"Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia","TANGO2"]
[null,null,"Muscular dystrophy, limb-girdle, type 2G","TCAP"]
[null,null,"Welander distal myopathy","TIA1"]
[null,null,"Emery-Dreifuss muscular dystrophy 7, AD","TMEM43"]
[null,null,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10","TMEM5"]
[null,null,"Nemaline myopathy 5, Amish type","TNNT1"]
[null,null,"Muscular dystrophy, limb-girdle, type 1F","TNPO3"]
[null,null,"Muscular dystrophy, limb-girdle, type 2Y","TOR1AIP1"]
[null,null,"Nemaline myopathy 4, autosomal dominant","TPM2"]
[null,null,"Nemaline myopathy 1, autosomal dominant or recessive","TPM3"]
[null,null,"Muscular dystrophy, limb-girdle, type 2S","TRAPPC11"]
[null,null,"Muscular dystrophy, limb-girdle, type 2H","TRIM32"]
[null,null,"Muscular dystrophy, congenital, Davignon-Chauveau type","TRIP4"]
[null,null,"Tibial muscular dystrophy, tardive","TTN"]
[null,null,"Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1","VCP"]
[null,null,"X-linked myopathy with excessive autophagy","VMA21"]
[null,null,"Centronuclear myopathy-6 with fiber-type disproportion","ZAK"]
["MYH9 related platelet disorders","MYH9","Epstein syndrome","MYH9"]
["Myoclonus dystonia","KCTD17,SGCE,TUBB2B","Dystonia 26, myoclonic","KCTD17"]
[null,null,"Dystonia 11, Myoclonus dystonia","SGCE"]
[null,null,"Dystonia_TUBB2B","TUBB2B"]
["Myofibrillar myopathy","ACTA1,BAG3,CRYAB,DES,DNAJB6,FLNC,KY,LDB3,MYH7,MYOT,PYROXD1","Myopathy, congenital, with fiber-type disproportion 1","ACTA1"]
[null,null,"Myopathy, myofibrillar, 6","BAG3"]
[null,null,"Myopathy, myofibrillar, 2","CRYAB"]
[null,null,"Myopathy, myofibrillar, 1","DES"]
[null,null,"Myopathy, myofibrillar","DNAJB6"]
[null,null,"Myopathy, myofibrillar, 5","FLNC"]
[null,null,"Myopathy, myofibrillar, 7","KY"]
[null,null,"Myopathy, myofibrillar, 4","LDB3"]
[null,null,"Myopathy, myosin storage","MYH7"]
[null,null,"Myopathy, myofibrillar, 3","MYOT"]
[null,null,"Myopathy, myofibrillar, 8","PYROXD1"]
["Myofibromatosis, infantile","NOTCH3,PDGFRB","Myofibromatosis, infantile 2","NOTCH3"]
[null,null,"Myofibromatosis, infantile, 1","PDGFRB"]
["Myoglobinuria, acute recurrent, autosomal recessive","LPIN1","Myoglobinuria, acute recurrent, autosomal recessive","LPIN1"]
["Myopathy, lactic acidosis, and sideroblastic anemia","PUS1,YARS2","Mitochondrial myopathy and sideroblastic anemia 1","PUS1"]
[null,null,"Mitochondrial myopathy and sideroblastic anemia 2","YARS2"]
["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay","GFER","Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay","GFER"]
["Myopia","BSG,CCDC111,LEPREL1,LRPAP1,P4HA2,SCO2,SLC39A5,ZNF644","High myopia","BSG"]
[null,null,"Myopia 22, autosomal dominant","CCDC111"]
[null,null,"Myopia, high, with cataract and vitreoretinal degeneration","LEPREL1"]
[null,null,"Myopia 23, autosomal recessive","LRPAP1"]
[null,null,"Myopia 25, autosomal dominant","P4HA2"]
[null,null,"Myopia 6","SCO2"]
[null,null,"Myopia 24, autosomal dominant","SLC39A5"]
[null,null,"Myopia 21, autosomal dominant","ZNF644"]
["N-acetylaspartate deficiency","NAT8L","N-acetylaspartate deficiency","NAT8L"]
["Nail disorders","FZD6,PLCD1,RSPO4","Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)","FZD6"]
[null,null,"Nail disorder, nonsyndromic congenital, 3, (leukonychia)","PLCD1"]
[null,null,"Anonychia congenita","RSPO4"]
["Nail-patella syndrome","LMX1B","Nail-patella syndrome","LMX1B"]
["Nance-Horan syndrome","NHS","Nance-Horan syndrome","NHS"]
["Nanophthalmos","MFRP,TMEM98","Nanophthalmos 2","MFRP"]
[null,null,"Nanophthalmos 4","TMEM98"]
["Nasu-Hakola disease","TREM2,TYROBP","Nasu-Hakola disease 1","TREM2"]
[null,null,"Nasu-Hakola disease 2","TYROBP"]
["Natural killer cell and glucocorticoid deficiency with DNA repair defect","MCM4","Natural killer cell and glucocorticoid deficiency with DNA repair defect","MCM4"]
["Nemaline rod myopathy","ACTA1,CFL2,KBTBD13,KLHL40,KLHL41,LMOD3,MYPN,NEB,RYR3,TNNT1,TPM2,TPM3","Nemaline myopathy 3, autosomal dominant or recessive","ACTA1"]
[null,null,"Nemaline myopathy 7, autosomal recessive","CFL2"]
[null,null,"Nemaline myopathy 6, autosomal dominant","KBTBD13"]
[null,null,"Nemaline myopathy 8, autosomal recessive","KLHL40"]
[null,null,"Nemaline myopathy 9, autosomal recessive","KLHL41"]
[null,null,"Nemaline myopathy 10","LMOD3"]
[null,null,"Nemaline myopathy 11, autosomal recessive","MYPN"]
[null,null,"Nemaline myopathy 2, autosomal recessive","NEB"]
[null,null,"Nemaline myopathy_RYR3","RYR3"]
[null,null,"Nemaline myopathy 5, Amish type","TNNT1"]
[null,null,"Nemaline myopathy 4, autosomal dominant","TPM2"]
[null,null,"Nemaline myopathy 1, autosomal dominant or recessive","TPM3"]
["Nephrogenic diabetes insipidous","AQP2,AVPR2","Nephrogenic diabetes insipidous","AQP2"]
[null,null,"Nephrogenic syndrome of inappropriate antidiuresis","AVPR2"]
["Nephrolithiasis","AGXT,ATP6V1B1,CLDN16,CLDN19,GRHPR,SLC12A1,SLC26A1,SLC34A1,SLC3A1,SLC9A3R1","Hyperoxaluria, primary, type 1","AGXT"]
[null,null,"Renal tubular acidosis with deafness","ATP6V1B1"]
[null,null,"Hypomagnesemia 3, renal","CLDN16"]
[null,null,"Hypomagnesemia 5, renal, with ocular involvement","CLDN19"]
[null,null,"Hyperoxaluria, primary, type II","GRHPR"]
[null,null,"Bartter syndrome, type 1","SLC12A1"]
[null,null,"Nephrolithiasis","SLC26A1"]
[null,null,"Idiopathic Infantile Hypercalcemia","SLC34A1"]
[null,null,"Cystinuria_SLC3A1","SLC3A1"]
[null,null,"Nephrolithiasis/osteoporosis, hypophosphatemic, 2","SLC9A3R1"]
["Nephronophthisis","ANKS6,CCDC41,CEP164,CEP290,DCDC2,GLIS2,INVS,IQCB1,MAPKBP1,NEK8,NPHP1,NPHP3,NPHP4,RPGRIP1L,SDCCAG8,TMEM67,TTC21B,WDR19,ZNF423","Nephronophthisis 16","ANKS6"]
[null,null,"Nephronophthisis 18","CCDC41"]
[null,null,"Nephronophthisis 15","CEP164"]
[null,null,"Nephronophthisis 6","CEP290"]
[null,null,"Nephronophthisis 19","DCDC2"]
[null,null,"Nephronophthisis 7","GLIS2"]
[null,null,"Nephronophthisis 2","INVS"]
[null,null,"Nephronophthisis 5","IQCB1"]
[null,null,"Nephronophthisis 20","MAPKBP1"]
[null,null,"Nephronophthisis 9","NEK8"]
[null,null,"Nephronophthisis 1","NPHP1"]
[null,null,"Nephronophthisis 3","NPHP3"]
[null,null,"Nephronophthisis 4","NPHP4"]
[null,null,"Nephronophthisis 8","RPGRIP1L"]
[null,null,"Nephronophthisis 10","SDCCAG8"]
[null,null,"Nephronophthisis 11","TMEM67"]
[null,null,"Nephronophthisis 12","TTC21B"]
[null,null,"Nephronophthisis 13","WDR19"]
[null,null,"Nephronophthisis 14","ZNF423"]
["Nephropathy with pretibial epidermolysis bullosa and deafness","CD151","Nephropathy with pretibial epidermolysis bullosa and deafness","CD151"]
["Nephrotic syndrome","ADCK4,ARHGDIA,CD2AP,COQ6,DGKE,DLC1,EMP2,ITGA3,ITSN1,ITSN2,KANK2,LAMA5,LAMB2,LMX1B,MAGI2,MYO1E,NPHS1,NPHS2,NUP107,NUP205,NUP93,PLCE1,PTPRO,SGPL1,WT1","Nephrotic syndrome, type 9","ADCK4"]
[null,null,"Nephrotic syndrome, type 8","ARHGDIA"]
[null,null,"Nephrotic syndrome-candidate_CD2AP","CD2AP"]
[null,null,"Nephrotic syndrome_COQ6","COQ6"]
[null,null,"Nephrotic syndrome, type 7","DGKE"]
[null,null,"Nephrotic syndrome_DLC1","DLC1"]
[null,null,"Nephrotic syndrome, type 10","EMP2"]
[null,null,"Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital","ITGA3"]
[null,null,"Nephrotic syndrome_ITSN1","ITSN1"]
[null,null,"Nephrotic syndrome_ITSN2","ITSN2"]
[null,null,"Nephrotic syndrome, type 16","KANK2"]
[null,null,"Nephrotic syndrome-candidate_LAMA5","LAMA5"]
[null,null,"Nephrotic syndrome, type 5","LAMB2"]
[null,null,"Nail-patella syndrome","LMX1B"]
[null,null,"Nephrotic syndrome, type 15","MAGI2"]
[null,null,"Nephrotic syndrome-candidate_MYO1E","MYO1E"]
[null,null,"Nephrotic syndrome, type 1","NPHS1"]
[null,null,"Nephrotic syndrome, type 2","NPHS2"]
[null,null,"Nephrotic syndrome, type 11","NUP107"]
[null,null,"Nephrotic syndrome, type 13","NUP205"]
[null,null,"Nephrotic syndrome, type 12","NUP93"]
[null,null,"Nephrotic syndrome, type 3","PLCE1"]
[null,null,"Nephrotic syndrome, type 6","PTPRO"]
[null,null,"Nephrotic syndrome_SGPL1","SGPL1"]
[null,null,"Nephrotic syndrome, type 4","WT1"]
["Netherton syndrome","SPINK5","Netherton syndrome","SPINK5"]
["Neural tube defects","T,TRIM36,VANGL1","Sacral agenesis with vertebral anomalies","T"]
[null,null,"ANENCEPHALY","TRIM36"]
[null,null,"Caudal regression syndrome","VANGL1"]
["Neurocutaneous syndromes","NF1,NF2,SPRED1,TSC1,TSC2","Neurofibromatosis 1","NF1"]
[null,null,"Neurofibromatosis 2","NF2"]
[null,null,"Legius syndrome","SPRED1"]
[null,null,"Tuberous sclerosis 1","TSC1"]
[null,null,"Tuberous sclerosis 2","TSC2"]
["Neurodegeneration with brain iron accumulation ","ATP13A2,C19orf12,COASY,CP,CRAT,DCAF17,FA2H,FTL,MTSS1L,PANK2,PLA2G6,WDR45","Kufor Rakeb disease","ATP13A2"]
[null,null,"Neurodegeneration with brain iron accumulation 4","C19orf12"]
[null,null,"Neurodegeneration with brain iron accumulation 6","COASY"]
[null,null,"Aceruloplasminemia","CP"]
[null,null,"Neurodegeneration with brain iron accumulation 8","CRAT"]
[null,null,"Woodhouse-Sakati syndrome","DCAF17"]
[null,null,"Fatty Acid Hydroxylase Neurodegeneration","FA2H"]
[null,null,"Neurodegeneration with brain iron accumulation 3 (Neuroferritinopathy)","FTL"]
[null,null,"Neurodegeneration with brain iron accumulation ","MTSS1L"]
[null,null,"Neurodegeneration with brain iron accumulation 1","PANK2"]
[null,null,"Neurodegeneration with brain iron accumulation 2A,2B","PLA2G6"]
[null,null,"Neurodegeneration with brain iron accumulation 5 (BPAN)","WDR45"]
["Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination","NACC1","Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination","NACC1"]
["Neurodevelopmental disorder with hypotonia, seizures, and absent language","HECW2","Neurodevelopmental disorder with hypotonia, seizures, and absent language","HECW2"]
["Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart","RERE","Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart","RERE"]
["Neurofibromatosis 1","NF1","Neurofibromatosis 1","NF1"]
["Neurofibromatosis 2","NF2","Neurofibromatosis 2","NF2"]
["Neuronopathy, distal hereditary motor","BSCL2,DCTN1,FBXO38,GARS,HSPB1,HSPB3,HSPB8,IGHMBP2,REEP1,SLC25A46,SLC5A7,TRPV4","Neuronopathy, distal hereditary motor, type VC","BSCL2"]
[null,null,"Neuronopathy, distal hereditary motor, type VIIB","DCTN1"]
[null,null,"Neuronopathy, distal hereditary motor, type IID","FBXO38"]
[null,null,"Neuronopathy, distal hereditary motor, type VA","GARS"]
[null,null,"Neuronopathy, distal hereditary motor, type IIB","HSPB1"]
[null,null,"Neuronopathy, distal hereditary motor, type IIC","HSPB3"]
[null,null,"Neuronopathy, distal hereditary motor, type IIA","HSPB8"]
[null,null,"Neuronopathy, distal hereditary motor, type VI","IGHMBP2"]
[null,null,"Neuronopathy, distal hereditary motor, type VB","REEP1"]
[null,null,"Neuropathy, hereditary motor and sensory, type VIB","SLC25A46"]
[null,null,"Neuronopathy, distal hereditary motor, type VIIA","SLC5A7"]
[null,null,"Neuronopathy, distal hereditary motor_TRPV4","TRPV4"]
["Neutropenia","CSF3R,ELANE,G6PC3,GFI1,HAX1,JAGN1,USB1,VPS45,WAS","Neutropenia, severe congenital, 7, autosomal recessive","CSF3R"]
[null,null,"Neutropenia, severe congenital 1, autosomal dominant","ELANE"]
[null,null,"Neutropenia, severe congenital 4, autosomal recessive","G6PC3"]
[null,null,"Neutropenia, severe congenital 2, autosomal dominant","GFI1"]
[null,null,"Neutropenia, severe congenital 3, autosomal recessive","HAX1"]
[null,null,"Neutropenia, severe congenital, 6, autosomal recessive","JAGN1"]
[null,null,"Poikiloderma with neutropenia","USB1"]
[null,null,"Neutropenia, severe congenital, 5, autosomal recessive","VPS45"]
[null,null,"Neutropenia, severe congenital, X-linked","WAS"]
["Nicolaides-Baraitser syndrome","SMARCA2","Nicolaides-Baraitser syndrome","SMARCA2"]
["Niemann Pick","NPC1,NPC2,SMPD1","Niemann-Pick disease, type C1, type D","NPC1"]
[null,null,"Niemann-pick disease, type C2","NPC2"]
[null,null,"Niemann-Pick disease, type A, type B","SMPD1"]
["Niemann Pick type C","NPC1,NPC2","Niemann-Pick disease, type C1, D","NPC1"]
[null,null,"Niemann-pick disease, type C2","NPC2"]
["Niemann Pick types A B","SMPD1","Niemann-Pick disease, type A, type B","SMPD1"]
["Nijmegen Breakage syndrome","NBN,RAD50","Nijmegen breakage syndrome","NBN"]
[null,null,"Nijmegen Breakage-Like syndrome","RAD50"]
["Non-syndromic hearing loss-X linked","AIFM1,COL4A6,GPRASP2,POU3F4,PRPS1,SMPX","Deafness, X-linked 5","AIFM1"]
[null,null,"Deafness, X-linked 6","COL4A6"]
[null,null,"HEARING LOSS-X-LINKED SYNDROMIC","GPRASP2"]
[null,null,"Deafness, X-linked 2","POU3F4"]
[null,null,"Deafness, X-linked 1","PRPS1"]
[null,null,"Deafness, X-linked 4","SMPX"]
["Noonan syndrome_RASopathy","A2ML1,ACTB,ACTG1,BRAF,CBL,CDC42,HRAS,KAT6B,KRAS,LZTR1,MAP2K1,MAP2K2,NRAS,PPP1CB,PTPN11,RAF1,RASA1,RIT1,RRAS,SHOC2,SOS1,SOS2,SPRED1","Noonan-Like 1","A2ML1"]
[null,null,"Baraitser-Winter syndrome 1","ACTB"]
[null,null,"Baraitser-Winter syndrome 2","ACTG1"]
[null,null,"Noonan syndrome 7/LEOPARD syndrome 3","BRAF"]
[null,null,"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia","CBL"]
[null,null,"Developmental disorder_Noonan_like_CDC42","CDC42"]
[null,null,"Costello syndrome","HRAS"]
[null,null,"Noonan-Like 2","KAT6B"]
[null,null,"Noonan syndrome 3 / Cardiofaciocutaneous syndrome 2","KRAS"]
[null,null,"Noonan syndrome 10","LZTR1"]
[null,null,"Cardiofaciocutaneous syndrome 3","MAP2K1"]
[null,null,"Cardiofaciocutaneous syndrome 4","MAP2K2"]
[null,null,"Noonan syndrome 6","NRAS"]
[null,null,"Noonan syndrome-like disorder with loose anagen hair 2","PPP1CB"]
[null,null,"Noonan syndrome 1","PTPN11"]
[null,null,"Noonan syndrome 5","RAF1"]
[null,null,"Parkes Weber syndrome","RASA1"]
[null,null,"Noonan syndrome 8","RIT1"]
[null,null,"RASopathy_RRAS","RRAS"]
[null,null,"Noonan-like syndrome with loose anagen hair","SHOC2"]
[null,null,"Noonan syndrome 4","SOS1"]
[null,null,"Noonan syndrome 9","SOS2"]
[null,null,"Legius syndrome","SPRED1"]
["Norrie disease","NDP","Norrie disease","NDP"]
["North Carolina macular dystrophy","IRX1,PRDM13","Macular dystrophy, North Carolina type 1","IRX1"]
[null,null,"Macular dystrophy, North Carolina type 2","PRDM13"]
["Norum disease","LCAT","Norum disease","LCAT"]
["Nuclear mitochondrial genes","AARS2,ACACA,ACACB,ACAD9,ACADM,ACAT1,ACSF3,ADCK3,AGK,AIFM1,APOPT1,ATP5A1,ATP5E,ATPAF2,BCS1L,BOLA3,BTD,C10orf2,C11orf83,C12orf65,CARS2,COA5,COA6,COQ2,COQ4,COQ6,COQ9,COX10,COX14,COX15,COX20,COX4I1,COX6B1,COX7A1,COX8A,CYC1,DARS2,DGUOK,DLAT,DNA2,EARS2,ECHS1,ELAC2,FARS2,FASTKD2,FBXL4,FOXRED1,GFM1,GTPBP3,IBA57,ISCA2,LIAS,LPIN1,LRPPRC,LYRM4,LYRM7,MARS2,MGME1,MIPEP,MPV17,MRPL3,MRPL44,MRPS16,MRPS2,MRPS22,MTFMT,MTO1,NARS2,NDUFA1,NDUFA10,NDUFA11,NDUFA12,NDUFA2,NDUFA9,NDUFAF1,NDUFAF2,NDUFAF3,NDUFAF4,NDUFAF5,NDUFAF6,NDUFB3,NDUFB8,NDUFB9,NDUFS1,NDUFS2,NDUFS3,NDUFS4,NDUFS6,NDUFS7,NDUFS8,NDUFV1,NDUFV2,NFU1,NUBPL,OPA1,PC,PDHA1,PDHB,PDHX,PDP1,PDSS1,PDSS2,PDX1,PET100,PNPT1,POLG,POLG2,PUS1,RMND1,RNASEH1,RRM2B,SARS2,SCO1,SCO2,SDHA,SDHAF1,SDHD,SFXN4,SLC25A26,SLC25A3,SLC25A4,SUCLA2,SUCLG1,SURF1,TACO1,TARS2,TFAM,TK2,TMEM126B,TMEM70,TOP3A,TRMT10C,TRMT5,TRMU,TSFM,TTC19,TUFM,TXN2,TYMP,UQCRB,UQCRC2,UQCRQ,VARS2,YARS2","Combined oxidative phosphorylation deficiency 8","AARS2"]
[null,null,"Acetyl-CoA carboxylase deficiency 1","ACACA"]
[null,null,"Acetyl-CoA carboxylase deficiency 2","ACACB"]
[null,null,"Mitochondrial complex I deficiency due to ACAD9 deficiency","ACAD9"]
[null,null,"MCAD deficiency","ACADM"]
[null,null,"Alpha-methylacetoacetic aciduria","ACAT1"]
[null,null,"Combined malonic and methylmalonic aciduria","ACSF3"]
[null,null,"Coenzyme Q10 deficiency, primary, 4","ADCK3"]
[null,null,"Mitochondrial DNA depletion syndrome 10","AGK"]
[null,null,"Combined oxidative phosphorylation deficiency 6","AIFM1"]
[null,null,"Mitochondrial complex IV deficiency_APOPT1","APOPT1"]
[null,null,"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4","ATP5A1"]
[null,null,"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3","ATP5E"]
[null,null,"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1","ATPAF2"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 1","BCS1L"]
[null,null,"Multiple mitochondrial dysfunctions syndrome 2","BOLA3"]
[null,null,"Biotinidase deficiency","BTD"]
[null,null,"Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)","C10orf2"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 9","C11orf83"]
[null,null,"Combined oxidative phosphorylation deficiency 7","C12orf65"]
[null,null,"Combined oxidative phosphorylation deficiency 27","CARS2"]
[null,null,"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3","COA5"]
[null,null,"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4","COA6"]
[null,null,"Coenzyme Q10 deficiency, primary, 1","COQ2"]
[null,null,"Coenzyme Q10 deficiency, primary, 7","COQ4"]
[null,null,"Coenzyme Q10 deficiency, primary, 6","COQ6"]
[null,null,"Coenzyme Q10 deficiency, primary, 5","COQ9"]
[null,null,"Mitochondrial complex IV deficiency_COX10","COX10"]
[null,null,"Mitochondrial complex IV deficiency_COX14","COX14"]
[null,null,"Leigh syndrome due to cytochrome c oxidase deficiency","COX15"]
[null,null,"Mitochondrial complex IV deficiency_COX20","COX20"]
[null,null,"Cytochrome c oxidase deficiency-candidate 1","COX4I1"]
[null,null,"Mitochondrial complex IV deficiency_COX6B1","COX6B1"]
[null,null,"Cytochrome c oxidase deficiency-candidate 2","COX7A1"]
[null,null,"Mitochondrial complex IV deficiency_COX8A","COX8A"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 6","CYC1"]
[null,null,"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","DARS2"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4","DGUOK"]
[null,null,"Pyruvate dehydrogenase E2 deficiency","DLAT"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6","DNA2"]
[null,null,"Combined oxidative phosphorylation deficiency 12","EARS2"]
[null,null,"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency","ECHS1"]
[null,null,"Combined oxidative phosphorylation deficiency 17","ELAC2"]
[null,null,"Combined oxidative phosphorylation deficiency 14","FARS2"]
[null,null,"Mitochondrial complex IV deficiency_FASTKD2","FASTKD2"]
[null,null,"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)","FBXL4"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_FOXRED1","FOXRED1"]
[null,null,"Combined oxidative phosphorylation deficiency 1","GFM1"]
[null,null,"Combined oxidative phosphorylation deficiency 23","GTPBP3"]
[null,null,"Multiple mitochondrial dysfunctions syndrome 3","IBA57"]
[null,null,"Multiple mitochondrial dysfunctions syndrome 4","ISCA2"]
[null,null,"Hyperglycinemia, lactic acidosis, and seizures","LIAS"]
[null,null,"Myoglobinuria, acute recurrent, autosomal recessive","LPIN1"]
[null,null,"Leigh syndrome, French-Canadian type","LRPPRC"]
[null,null,"Combined oxidative phosphorylation deficiency 19","LYRM4"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 8","LYRM7"]
[null,null,"Combined oxidative phosphorylation deficiency 25","MARS2"]
[null,null,"Mitochondrial DNA depletion syndrome 11","MGME1"]
[null,null,"Combined oxidative phosphorylation deficiency 31","MIPEP"]
[null,null,"Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)","MPV17"]
[null,null,"Combined oxidative phosphorylation deficiency 9","MRPL3"]
[null,null,"Combined oxidative phosphorylation deficiency 16","MRPL44"]
[null,null,"Combined oxidative phosphorylation deficiency 2","MRPS16"]
[null,null,"Combined oxidative phosphorylation deficiency 36","MRPS2"]
[null,null,"Combined oxidative phosphorylation deficiency 5","MRPS22"]
[null,null,"Combined oxidative phosphorylation deficiency 15","MTFMT"]
[null,null,"Combined oxidative phosphorylation deficiency 10","MTO1"]
[null,null,"Combined oxidative phosphorylation deficiency 24","NARS2"]
[null,null,"Mitochondrial complex I deficiency_NDUFA1","NDUFA1"]
[null,null,"Mitochondrial complex I deficiency_NDUFA10","NDUFA10"]
[null,null,"Mitochondrial complex I deficiency_NDUFA11","NDUFA11"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFA12","NDUFA12"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFA2","NDUFA2"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFA9","NDUFA9"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF1","NDUFAF1"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF2","NDUFAF2"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF3","NDUFAF3"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF4","NDUFAF4"]
[null,null,"Mitochondrial complex I deficiency_NDUFAF5","NDUFAF5"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFAF6","NDUFAF6"]
[null,null,"Mitochondrial complex I deficiency_NDUFB3","NDUFB3"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFB8","NDUFB8"]
[null,null,"Mitochondrial complex I deficiency_NDUFB9","NDUFB9"]
[null,null,"Mitochondrial complex I deficiency_NDUFS1","NDUFS1"]
[null,null,"Mitochondrial complex I deficiency_NDUFS2","NDUFS2"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFS3","NDUFS3"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFS4","NDUFS4"]
[null,null,"Mitochondrial complex I deficiency_NDUFS6","NDUFS6"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFS7","NDUFS7"]
[null,null,"Leigh syndrome due to mitochondrial complex I deficiency_NDUFS8","NDUFS8"]
[null,null,"Mitochondrial complex I deficiency_NDUFV1","NDUFV1"]
[null,null,"Mitochondrial complex I deficiency_NDUFV2","NDUFV2"]
[null,null,"Multiple mitochondrial dysfunctions syndrome 1","NFU1"]
[null,null,"Mitochondrial complex I deficiency_NUBPL","NUBPL"]
[null,null,"Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)","OPA1"]
[null,null,"Pyruvate carboxylase deficiency","PC"]
[null,null,"Leigh syndrome, X-linked","PDHA1"]
[null,null,"Pyruvate dehydrogenase E1-beta deficiency","PDHB"]
[null,null,"Lacticacidemia due to PDX1 deficiency 1","PDHX"]
[null,null,"Pyruvate dehydrogenase phosphatase deficiency","PDP1"]
[null,null,"Coenzyme Q10 deficiency, primary, 2","PDSS1"]
[null,null,"Coenzyme Q10 deficiency, primary, 3","PDSS2"]
[null,null,"Lacticacidemia due to PDX1 deficiency 2","PDX1"]
[null,null,"Mitochondrial complex IV deficiency_PET100","PET100"]
[null,null,"Combined oxidative phosphorylation deficiency 13","PNPT1"]
[null,null,"Mitochondrial DNA depletion syndrome 4A, 4B","POLG"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4","POLG2"]
[null,null,"Mitochondrial myopathy and sideroblastic anemia 1","PUS1"]
[null,null,"Combined oxidative phosphorylation deficiency 11","RMND1"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2","RNASEH1"]
[null,null,"Mitochondrial DNA depletion syndrome 8A, 8B","RRM2B"]
[null,null,"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","SARS2"]
[null,null,"Mitochondrial complex IV deficiency_SCO1","SCO1"]
[null,null,"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1","SCO2"]
[null,null,"Mitochondrial complex II deficiency_SDHA","SDHA"]
[null,null,"Mitochondrial complex II deficiency_SDHAF1","SDHAF1"]
[null,null,"Mitochondrial complex II deficiency_SDHD","SDHD"]
[null,null,"Combined oxidative phosphorylation deficiency 18","SFXN4"]
[null,null,"Combined oxidative phosphorylation deficiency 28","SLC25A26"]
[null,null,"Mitochondrial phosphate carrier deficiency","SLC25A3"]
[null,null,"Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)","SLC25A4"]
[null,null,"Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)","SUCLA2"]
[null,null,"Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)","SUCLG1"]
[null,null,"Leigh syndrome, due to COX deficiency","SURF1"]
[null,null,"Mitochondrial complex IV deficiency_TACO1","TACO1"]
[null,null,"Combined oxidative phosphorylation deficiency 21","TARS2"]
[null,null,"Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)","TFAM"]
[null,null,"Progressive external ophthalmoplegia, autosomal recessive 1","TK2"]
[null,null,"Mitochondrial complex I deficiency","TMEM126B"]
[null,null,"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2","TMEM70"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5","TOP3A"]
[null,null,"Combined oxidative phosphorylation deficiency 30","TRMT10C"]
[null,null,"Combined oxidative phosphorylation deficiency 26","TRMT5"]
[null,null,"Liver failure, transient infantile","TRMU"]
[null,null,"Combined oxidative phosphorylation deficiency 3","TSFM"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 2","TTC19"]
[null,null,"Combined oxidative phosphorylation deficiency 4","TUFM"]
[null,null,"Combined oxidative phosphorylation deficiency 29","TXN2"]
[null,null,"Mitochondrial DNA depletion syndrome 1 (MNGIE type)","TYMP"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 3","UQCRB"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 5","UQCRC2"]
[null,null,"Mitochondrial complex III deficiency, nuclear type 4","UQCRQ"]
[null,null,"Combined oxidative phosphorylation deficiency 20","VARS2"]
[null,null,"Mitochondrial myopathy and sideroblastic anemia 2","YARS2"]
["Nystagmus","FRMD7,GPR143","Nystagmus 1, congenital, X-linked","FRMD7"]
[null,null,"Nystagmus 6, congenital, X-linked","GPR143"]
["Obesity","ADCY3,LEP,LEPR,MC4R,NR0B2,PCSK1,POMC,PPARG,SIM1","Monogenic severe obesity","ADCY3"]
[null,null,"Obesity","LEP"]
[null,null,"Obesity, morbid, due to leptin receptor deficiency","LEPR"]
[null,null,"Obesity, autosomal dominant","MC4R"]
[null,null,"Obesity, mild, early-onset","NR0B2"]
[null,null,"Obesity with impaired prohormone processing","PCSK1"]
[null,null,"Obesity, adrenal insufficiency, and red hair due to POMC deficiency","POMC"]
[null,null,"Obesity, severe 1","PPARG"]
[null,null,"Obesity, severe 2","SIM1"]
["Obesity developmental delay intellectual disability","POU3F2","Obesity developmental delay intellectual disability","POU3F2"]
["Obesity, hyperphagia, and developmental delay","NTRK2","Obesity, hyperphagia, and developmental delay","NTRK2"]
["Oculoauricular syndrome","HMX1","Oculoauricular syndrome","HMX1"]
["Oculocutaneous Albinism","C10orf11,OCA2,SLC24A5,SLC45A2,TYR,TYRP1","Albinism, oculocutaneous, type VII","C10orf11"]
[null,null,"Albinism, oculocutaneous, type II","OCA2"]
[null,null,"Albinism, oculocutaneous, type VI","SLC24A5"]
[null,null,"Albinism, oculocutaneous, type IV","SLC45A2"]
[null,null,"Albinism, oculocutaneous, type I","TYR"]
[null,null,"Albinism, oculocutaneous, type III","TYRP1"]
["Ogden syndrome","NAA10","Ogden syndrome","NAA10"]
["Ohdo syndrome, X-linked","MED12","Ohdo syndrome, X-linked","MED12"]
["Okur-Chung neurodevelopmental syndrome","CSNK2A1","Okur-Chung neurodevelopmental syndrome","CSNK2A1"]
["Olmsted syndrome","TRPV3","Olmsted syndrome","TRPV3"]
["OMENN Syndrome","DCLRE1C,RAG1,RAG2","OMENN Syndrome 1","DCLRE1C"]
[null,null,"OMENN Syndrome 2","RAG1"]
[null,null,"OMENN Syndrome 3","RAG2"]
["Omodysplasia","GPC6","Omodysplasia 1","GPC6"]
["Oocyte maturation defect","ZP1","Oocyte maturation defect 1","ZP1"]
["Opitz-Kaveggia syndrome","MED12","Opitz-Kaveggia syndrome","MED12"]
["Opsismodysplasia","INPPL1","Opsismodysplasia","INPPL1"]
["Optic atrophy","ACO2,AP3B2,CISD2,DNM1L,MECR,MFN2,NR2F1,OPA1,OPA3,RTN4IP1,TIMM8A,TMEM126A,WFS1,YME1L1","Optic atrophy 9","ACO2"]
[null,null,"Early-Onset Epileptic Encephalopathy with Optic Atrophy","AP3B2"]
[null,null,"Wolfram syndrome 2","CISD2"]
[null,null,"Optic atrophy 5","DNM1L"]
[null,null,"Childhood-Onset Dystonia and Optic Atrophy","MECR"]
[null,null,"Charcot-Marie-Tooth disease, type 2A2","MFN2"]
[null,null,"Bosch-Boonstra-Schaaf optic atrophy syndrome","NR2F1"]
[null,null,"Optic atrophy 1","OPA1"]
[null,null,"Optic atrophy 3","OPA3"]
[null,null,"Optic atrophy 10 with or without ataxia, mental retardation, and seizures","RTN4IP1"]
[null,null,"Mohr-Tranebjaerg syndrome","TIMM8A"]
[null,null,"Optic atrophy 7","TMEM126A"]
[null,null,"Wolfram syndrome 1","WFS1"]
[null,null,"Optic atrophy 11","YME1L1"]
[]
["Orofaciodigital syndrome","C2CD3,C5orf42,DDX59,INTU,KIAA0753,OFD1,TCTN3","Orofaciodigital syndrome XIV","C2CD3"]
[null,null,"Orofaciodigital syndrome VI","C5orf42"]
[null,null,"Orofaciodigital syndrome V","DDX59"]
[null,null,"Orofaciodigital syndrome XVII","INTU"]
[null,null,"Orofaciodigital syndrome XV","KIAA0753"]
[null,null,"Oral-facial-digital syndrome 1","OFD1"]
[null,null,"Orofaciodigital syndrome IV","TCTN3"]
["Osteogenesis imperfecta","BMP1,COL1A1,COL1A2,CREB3L1,CRTAP,FKBP10,IFITM5,LEPRE1,LRP5,MBTPS2,PPIB,SERPINF1,SERPINH1,SP7,SPARC,TMEM38B,WNT1","Osteogenesis imperfecta, type XIII","BMP1"]
[null,null,"Osteogenesis imperfecta, type I, type III, type IV","COL1A1"]
[null,null,"Osteogenesis imperfecta, type II, type III, type IV","COL1A2"]
[null,null,"Osteogenesis imperfecta, type XVI","CREB3L1"]
[null,null,"Osteogenesis imperfecta, type VII","CRTAP"]
[null,null,"Osteogenesis imperfecta, type XI","FKBP10"]
[null,null,"Osteogenesis imperfecta, type V","IFITM5"]
[null,null,"Osteogenesis imperfecta, type VIII","LEPRE1"]
[null,null,"Osteogenesis imperfecta","LRP5"]
[null,null,"Osteogenesis imperfecta, type XIX","MBTPS2"]
[null,null,"Osteogenesis imperfecta, type IX","PPIB"]
[null,null,"Osteogenesis imperfecta, type VI","SERPINF1"]
[null,null,"Osteogenesis imperfecta, type X","SERPINH1"]
[null,null,"Osteogenesis imperfecta, type XII","SP7"]
[null,null,"Osteogenesis imperfecta, type XVII","SPARC"]
[null,null,"Osteogenesis imperfecta, type XIV","TMEM38B"]
[null,null,"Osteogenesis imperfecta, type XV","WNT1"]
["Osteopathia striata with cranial sclerosis","AMER1","Osteopathia striata with cranial sclerosis","AMER1"]
["Osteopetrosis","CA2,CLCN7,LRP5,OSTM1,PLEKHM1,SNX10,TCIRG1,TNFRSF11A,TNFSF11","Osteopetrosis, autosomal recessive 3, with renal tubular acidosis","CA2"]
[null,null,"Osteopetrosis, autosomal dominant 2, autosomal recessive 4","CLCN7"]
[null,null,"Osteopetrosis, autosomal dominant 1","LRP5"]
[null,null,"Osteopetrosis, autosomal recessive 5","OSTM1"]
[null,null,"Osteopetrosis, autosomal recessive 6","PLEKHM1"]
[null,null,"Osteopetrosis, autosomal recessive 8","SNX10"]
[null,null,"Osteopetrosis, autosomal recessive 1","TCIRG1"]
[null,null,"Osteopetrosis, autosomal recessive 7","TNFRSF11A"]
[null,null,"Osteopetrosis, autosomal recessive 2","TNFSF11"]
["Osteopetrosis (Core panel)","CA2,CLCN7,OSTM1,TCIRG1,TNFSF11","Osteopetrosis, autosomal recessive 3, with renal tubular acidosis","CA2"]
[null,null,"Osteopetrosis, autosomal dominant 2, autosomal recessive 4","CLCN7"]
[null,null,"Osteopetrosis, autosomal recessive 5","OSTM1"]
[null,null,"Osteopetrosis, autosomal recessive 1","TCIRG1"]
[null,null,"Osteopetrosis, autosomal recessive 2","TNFSF11"]
["Osteopoikilosis","LEMD3","Osteopoikilosis","LEMD3"]
["osteosclerotic metaphyseal dysplasia","LRRK1","osteosclerotic metaphyseal dysplasia","LRRK1"]
["Otofaciocervical syndrome","EYA1,PAX1","Otofaciocervical syndrome","EYA1"]
[null,null,"Otofaciocervical syndrome 2","PAX1"]
["Ovarian dysgenesis/failure","BMP15,DIAPH2,DMC1,ERCC6,FANCM,FIGLA,FMR1,FOXL2,FSHR,HFM1,MCM8,MCM9,MRPS22,MSH5,NOBOX,NR5A1,NUP107,POF1B,POLR2C,PSMC3IP,SOHLH1,SOX8,STAG3","Premature ovarian failure 4","BMP15"]
[null,null,"Premature ovarian failure 2A","DIAPH2"]
[null,null,"Premature ovarian failure_DMC1","DMC1"]
[null,null,"Premature ovarian failure 11","ERCC6"]
[null,null,"Premature ovarian failure 15","FANCM"]
[null,null,"Premature ovarian failure 6","FIGLA"]
[null,null,"Premature ovarian failure 1","FMR1"]
[null,null,"Premature ovarian failure 3","FOXL2"]
[null,null,"Ovarian dysgenesis 1","FSHR"]
[null,null,"Premature ovarian failure 9","HFM1"]
[null,null,"Premature ovarian failure 10","MCM8"]
[null,null,"Ovarian dysgenesis 4","MCM9"]
[null,null,"Ovarian dysgenesis 7","MRPS22"]
[null,null,"Premature ovarian failure 13","MSH5"]
[null,null,"Premature ovarian failure 5","NOBOX"]
[null,null,"Premature ovarian failure 7","NR5A1"]
[null,null,"Ovarian dysgenesis 6","NUP107"]
[null,null,"Premature ovarian failure 2B","POF1B"]
[null,null,"Premature ovarian failure_POLR2C","POLR2C"]
[null,null,"Ovarian dysgenesis 3","PSMC3IP"]
[null,null,"Ovarian dysgenesis 5","SOHLH1"]
[null,null,"Premature ovarian failure_SOX8","SOX8"]
[null,null,"Premature ovarian failure 8","STAG3"]
["Overgrowth syndrome with intellectual disability","DNMT3A,PPP2R5B","Tatton-Brown-Rahman syndrome","DNMT3A"]
[null,null,"Overgrowth syndrome with intellectual disability","PPP2R5B"]
["Pachyonychia congenita","KRT16,KRT17,KRT6A,KRT6B","Pachyonychia congenita 1, Jadassohn-Lewandowsky type","KRT16"]
[null,null,"Pachyonychia congenita 2, Jackson-Lawler type","KRT17"]
[null,null,"Pachyonychia congenita 3, Jadassohn-Lewandowsky type","KRT6A"]
[null,null,"Pachyonychia congenita 4, Jackson-Lawler type","KRT6B"]
["Paget disease","SQSTM1,TNFRSF11A,TNFRSF11B,ZNF687","Paget disease of bone 3","SQSTM1"]
[null,null,"Paget disease of bone 2, early-onset","TNFRSF11A"]
[null,null,"Paget disease of bone 5, juvenile-onset","TNFRSF11B"]
[null,null,"Paget disease of bone 6","ZNF687"]
["PAI1 deficiency","SERPINE1","PAI1 deficiency","SERPINE1"]
["Palmoplantar keratoderma","AAGAB,AQP5,KANK2,KRT1,KRT6C,KRT9,SERPINB7","Keratoderma, palmoplantar, punctate type IA","AAGAB"]
[null,null,"Diffuse palmoplantar keratoderma, Bothnian type","AQP5"]
[null,null,"Palmoplantar keratoderma and woolly hair","KANK2"]
[null,null,"Palmoplantar keratoderma, epidermolytic_KRT1","KRT1"]
[null,null,"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse","KRT6C"]
[null,null,"Palmoplantar keratoderma, epidermolytic_KRT9","KRT9"]
[null,null,"Palmoplantar keratoderma, Nagashima type","SERPINB7"]
["Pancreatic agenesis","PDX1,PTF1A","Pancreatic agenesis","PDX1"]
[null,null,"Pancreatic agenesis 2","PTF1A"]
["Pancreatic agenesis and congenital heart defects","GATA6","Pancreatic agenesis and congenital heart defects","GATA6"]
["Papillon-Lefèvre syndrome","CTSC","Papillon-Lefèvre syndrome","CTSC"]
["Paraganglioma","SDHA,SDHAF2,SDHB,SDHC,SDHD,TMEM127","Paragangliomas 5","SDHA"]
[null,null,"Paragangliomas 2","SDHAF2"]
[null,null,"Paragangliomas 4","SDHB"]
[null,null,"Paragangliomas 3","SDHC"]
[null,null,"Paragangliomas 1, with or without deafness","SDHD"]
[null,null,"Paraganglioma","TMEM127"]
["Parkes Weber syndrome","RASA1","Parkes Weber syndrome","RASA1"]
["Parkinson disease  ","ATP13A2,CHCHD2,DCTN1,DNAJC6,EIF4G1,FBXO7,GBA,LRRK2,PARK2,PARK7,PINK1,PLA2G6,SNCA,SYNJ1,TAF1,TMEM230,VPS13C,VPS35","Kufor-Rakeb syndrome","ATP13A2"]
[null,null,"Parkinson disease 22, autosomal dominant","CHCHD2"]
[null,null,"Perry syndrome","DCTN1"]
[null,null,"Parkinson disease 19, juvenile-onset","DNAJC6"]
[null,null,"Parkinson disease 18","EIF4G1"]
[null,null,"Parkinson disease 15, autosomal recessive","FBXO7"]
[null,null,"Parkinson disease, late-onset, susceptibility to","GBA"]
[null,null,"Parkinson disease 8","LRRK2"]
[null,null,"Parkinson disease, juvenile, type 2","PARK2"]
[null,null,"Parkinson disease 7, autosomal recessive early-onset","PARK7"]
[null,null,"Parkinson disease 6, early onset","PINK1"]
[null,null,"Parkinson disease 14, autosomal recessive","PLA2G6"]
[null,null,"Parkinson disease 1, 4","SNCA"]
[null,null,"Parkinson disease 20, early-onset","SYNJ1"]
[null,null,"Dystonia-Parkinsonism, X-linked","TAF1"]
[null,null,"Parkinson disease  ","TMEM230"]
[null,null,"Parkinson disease 23, autosomal recessive, early onset","VPS13C"]
[null,null,"Parkinson disease 17","VPS35"]
["Parkinson disease / Frontotemporal dementia","CHMP2B,GRN,MAPT,TBK1","Dementia, familial, nonspecific","CHMP2B"]
[null,null,"Frontotemporal lobar degeneration with ubiquitin-positive inclusions","GRN"]
[null,null,"Dementia, frontotemporal, with or without parkinsonism","MAPT"]
[null,null,"Frontotemporal dementia_TBK1","TBK1"]
["Parkinsonism","ATP13A2,ATP1A3,ATP6AP2,CHCHD2,CHMP2B,DCTN1,DNAJC6,EIF4G1,FBXO7,GBA,GRN,LRRK2,MAPT,PARK2,PARK7,PINK1,PLA2G6,RAB39B,SNCA,SNCB,SYNJ1,TAF1,TMEM230,VPS13C,VPS35","Kufor-Rakeb syndrome","ATP13A2"]
[null,null,"Rapid onset-dystonia Parkinsonism","ATP1A3"]
[null,null,"Parkinsonism with spasticity, X-linked","ATP6AP2"]
[null,null,"Parkinson disease 22, autosomal dominant","CHCHD2"]
[null,null,"Dementia, familial, nonspecific","CHMP2B"]
[null,null,"Perry syndrome","DCTN1"]
[null,null,"Parkinson disease 19, juvenile-onset","DNAJC6"]
[null,null,"Parkinson disease 18","EIF4G1"]
[null,null,"Parkinson disease 15, autosomal recessive","FBXO7"]
[null,null,"Parkinson disease, late-onset, susceptibility to","GBA"]
[null,null,"Frontotemporal lobar degeneration with ubiquitin-positive inclusions","GRN"]
[null,null,"Parkinson disease 8","LRRK2"]
[null,null,"Dementia, frontotemporal, with or without parkinsonism","MAPT"]
[null,null,"Parkinson disease, juvenile, type 2","PARK2"]
[null,null,"Parkinson disease 7, autosomal recessive early-onset","PARK7"]
[null,null,"Parkinson disease 6, early onset","PINK1"]
[null,null,"Parkinson disease 14, autosomal recessive","PLA2G6"]
[null,null,"Waisman syndrome","RAB39B"]
[null,null,"Parkinson disease 1, 4","SNCA"]
[null,null,"Lewy body disease","SNCB"]
[null,null,"Parkinson disease 20, early-onset","SYNJ1"]
[null,null,"Dystonia-Parkinsonism, X-linked","TAF1"]
[null,null,"Parkinson disease  ","TMEM230"]
[null,null,"Parkinson disease 23, autosomal recessive, early onset","VPS13C"]
[null,null,"Parkinson disease 17","VPS35"]
["Paroxysmal nonkinesigenic dyskinesia","PNKD","Paroxysmal nonkinesigenic dyskinesia","PNKD"]
["Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome","CAV1","Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome","CAV1"]
["Patent ductus arteriosis","PRDM6,TFAP2B","Patent ductus arteriosis 3","PRDM6"]
[null,null,"Patent ductus arteriosis 2","TFAP2B"]
["Peeling skin syndrome","CAST,CHST8,CSTA","Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads","CAST"]
[null,null,"Peeling skin syndrome 3","CHST8"]
[null,null,"Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, peeling skin syndrome 4","CSTA"]
["Peeling skin syndrome ","CDSN,CSTA,SERPINB8,TGM5","Peeling skin syndrome 1","CDSN"]
[null,null,"Peeling skin syndrome 4","CSTA"]
[null,null,"Peeling skin syndrome 5","SERPINB8"]
[null,null,"Peeling skin syndrome 2","TGM5"]
["Pendred syndrome","SLC26A4","Pendred syndrome","SLC26A4"]
["Periodic fever panel","ELANE,HTR1A,LPIN2,MEFV,MVK,NLRP12,NLRP3,PSTPIP1,TNFRSF1A","Neutropenia, severe congenital 1, autosomal dominant","ELANE"]
[null,null,"Periodic fever, menstrual cycle dependent","HTR1A"]
[null,null,"Majeed syndrome","LPIN2"]
[null,null,"Familial Mediterranean fever AD/AR","MEFV"]
[null,null,"Hyper-IgD syndrome","MVK"]
[null,null,"Familial cold autoinflammatory syndrome 2","NLRP12"]
[null,null,"CINCA syndrome","NLRP3"]
[null,null,"Pyogenic sterile arthritis, pyoderma gangrenosum, and acne","PSTPIP1"]
[null,null,"Periodic fever, familial","TNFRSF1A"]
["Periodic paralysis syndromes","ATP1A3,CACNA1S,CLCN1,KCNJ2,SCN4A,SLC4A1","Alternating Hemipelegia of childhood","ATP1A3"]
[null,null,"Hypokalemic periodic paralysis 1","CACNA1S"]
[null,null,"Myotonia congenita","CLCN1"]
[null,null,"Anderson cardiodysrhythmic periodic paralysis","KCNJ2"]
[null,null,"Hypokalemic periodic paralysis 2","SCN4A"]
[null,null,"Renal tubular acidosis, distal, AD","SLC4A1"]
["Periventricular nodular heterotopia","ARFGEF2,C6orf70,DCHS1,FAT4,FLNA,NEDD4L","Periventricular nodular heterotopia 2","ARFGEF2"]
[null,null,"Periventricular nodular heterotopia 6","C6orf70"]
[null,null,"Van Maldergem syndrome 1 ","DCHS1"]
[null,null,"Van Maldergem syndrome 2","FAT4"]
[null,null,"Periventricular nodular heterotopia 1","FLNA"]
[null,null,"Periventricular nodular heterotopia 7","NEDD4L"]
["Perlman syndrome","DIS3L2","Perlman syndrome","DIS3L2"]
["Peroxisomal disease","ABCD1,ABCD3,ACOX1,AGPS,AGXT,AMACR,ARSE,C7orf10,DNM1L,EBP,FAR1,GNPAT,HSD17B4,MFF,PEX1,PEX10,PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PHYH","Adrenoleukodystrophy","ABCD1"]
[null,null,"Bile acid synthesis defect, congenital, 5","ABCD3"]
[null,null,"Peroxisomal acyl-CoA oxidase deficiency","ACOX1"]
[null,null,"Chondrodysplasia punctata, rhizomelic, type 3","AGPS"]
[null,null,"Hyperoxaluria, primary, type 1","AGXT"]
[null,null,"Alpha-methylacyl-CoA racemase deficiency","AMACR"]
[null,null,"Chondrodysplasia punctata, X-linked recessive","ARSE"]
[null,null,"Glutaric aciduria III","C7orf10"]
[null,null,"Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1","DNM1L"]
[null,null,"Chondrodysplasia punctata, X-linked dominant","EBP"]
[null,null,"Peroxisomal fatty acyl-CoA reductase 1 disorder","FAR1"]
[null,null,"Rhizomelic chondrodysplasia punctata, type 2","GNPAT"]
[null,null,"Perrault syndrome 1","HSD17B4"]
[null,null,"Encephalopathy due to defective mitochondrial and peroxisomal fission 2","MFF"]
[null,null,"Peroxisome biogenesis disorder 1A, 1B","PEX1"]
[null,null,"Peroxisome biogenesis disorder 6A, 6B","PEX10"]
[null,null,"Peroxisome biogenesis disorder 14B","PEX11B"]
[null,null,"Peroxisome biogenesis disorder 3A, 3B","PEX12"]
[null,null,"Peroxisome biogenesis disorder 11A, 11B","PEX13"]
[null,null,"Peroxisome biogenesis disorder 13A","PEX14"]
[null,null,"Peroxisome biogenesis disorder 8A, 8B","PEX16"]
[null,null,"Peroxisome biogenesis disorder 12A","PEX19"]
[null,null,"Peroxisome biogenesis disorder 5A, 5B","PEX2"]
[null,null,"Peroxisome biogenesis disorder 7A, 7B","PEX26"]
[null,null,"Peroxisome biogenesis disorder 10A","PEX3"]
[null,null,"Peroxisome biogenesis disorder 2A, 2B","PEX5"]
[null,null,"Peroxisome biogenesis disorder 4A, 4B","PEX6"]
[null,null,"Peroxisome biogenesis disorder 9B","PEX7"]
[null,null,"Refsum disease","PHYH"]
["Peroxisome biogenesis disorder","PEX1,PEX10,PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PHYH","Peroxisome biogenesis disorder 1A, 1B","PEX1"]
[null,null,"Peroxisome biogenesis disorder 6A, 6B","PEX10"]
[null,null,"Peroxisome biogenesis disorder 14B","PEX11B"]
[null,null,"Peroxisome biogenesis disorder 3A, 3B","PEX12"]
[null,null,"Peroxisome biogenesis disorder 11A, 11B","PEX13"]
[null,null,"Peroxisome biogenesis disorder 13A","PEX14"]
[null,null,"Peroxisome biogenesis disorder 8A, 8B","PEX16"]
[null,null,"Peroxisome biogenesis disorder 12A","PEX19"]
[null,null,"Peroxisome biogenesis disorder 5A, 5B","PEX2"]
[null,null,"Peroxisome biogenesis disorder 7A, 7B","PEX26"]
[null,null,"Peroxisome biogenesis disorder 10A","PEX3"]
[null,null,"Peroxisome biogenesis disorder 2A, 2B","PEX5"]
[null,null,"Peroxisome biogenesis disorder 4A, 4B","PEX6"]
[null,null,"Peroxisome biogenesis disorder 9B","PEX7"]
[null,null,"Refsum disease","PHYH"]
["Perrault syndrome","C10orf2,CLPP,HARS2,HSD17B4,LARS2","Perrault syndrome 5","C10orf2"]
[null,null,"Perrault syndrome 3","CLPP"]
[null,null,"Perrault syndrome 2","HARS2"]
[null,null,"Perrault syndrome 1","HSD17B4"]
[null,null,"Perrault syndrome 4","LARS2"]
["Persisten mullerian duct syndrome","AMH,AMHR2","Persisten mullerian duct syndrome, type I","AMH"]
[null,null,"Persisten mullerian duct syndrome, type II","AMHR2"]
["Peters anomaly","B3GALTL,CYP1B1,PAX6,PITX2","Peters-plus syndrome","B3GALTL"]
[null,null,"Peters anomaly_CYP1B1","CYP1B1"]
[null,null,"Peters anomaly_PAX6","PAX6"]
[null,null,"Peters anomaly_PITX2","PITX2"]
["Phelan-McDermid syndrome","SHANK3","Phelan-McDermid syndrome","SHANK3"]
["Phenylketonuria","PAH","Phenylketonuria","PAH"]
["Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency","PCK1","Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency","PCK1"]
["Phosphoglycerate dehydrogenase deficiency","PHGDH","Phosphoglycerate dehydrogenase deficiency","PHGDH"]
["Phosphoglycerate kinase 1 deficiency","PGK1","Phosphoglycerate kinase 1 deficiency","PGK1"]
["Phosphoserine aminotransferase deficiency","PSAT1","Phosphoserine aminotransferase deficiency","PSAT1"]
["Phosphoserine phosphatase deficiency","PSPH","Phosphoserine phosphatase deficiency","PSPH"]
["Pigmentary disorder, reticulate, with systemic manifestations, X-linked","POLA1","Pigmentary disorder, reticulate, with systemic manifestations, X-linked","POLA1"]
["Pigmented nodular adrenocortical disease","PDE11A,PDE8B,PRKACA,PRKAR1A","Pigmented nodular adrenocortical disease, primary, 2","PDE11A"]
[null,null,"Pigmented nodular adrenocortical disease, primary, 3","PDE8B"]
[null,null,"Pigmented nodular adrenocortical disease, primary, 4","PRKACA"]
[null,null,"Pigmented nodular adrenocortical disease, primary, 1","PRKAR1A"]
["Pitt Hopkins syndrome","NRXN1,TCF4","Pitt-Hopkins-like syndrome 2","NRXN1"]
[null,null,"Pitt-Hopkins syndrome","TCF4"]
["Pituitary hormone deficiency","HESX1,LHX3,LHX4,OTX2,POU1F1,PROP1","Pituitary hormone deficiency, combined, 5","HESX1"]
[null,null,"Pituitary hormone deficiency, combined, 3","LHX3"]
[null,null,"Pituitary hormone deficiency, combined, 4","LHX4"]
[null,null,"Pituitary hormone deficiency, combined, 6","OTX2"]
[null,null,"Pituitary hormone deficiency, combined, 1","POU1F1"]
[null,null,"Pituitary hormone deficiency, combined, 2","PROP1"]
["Pityriasis rubra pilaris","CARD14","Pityriasis rubra pilaris","CARD14"]
["Platelet disorders","ACTN1,FLI1,GFI1B,GP6,P2RY12,PLAU,PRKACG,RASGRP2,SLFN14,TBXA2R","Bleeding disorder, platelet-type, 15","ACTN1"]
[null,null,"Bleeding disorder, platelet-type, 21","FLI1"]
[null,null,"Bleeding disorder, platelet-type, 17","GFI1B"]
[null,null,"Bleeding disorder, platelet-type, 11","GP6"]
[null,null,"Bleeding disorder, platelet-type, 8","P2RY12"]
[null,null,"Quebec platelet disorder","PLAU"]
[null,null,"Bleeding disorder, platelet-type, 19","PRKACG"]
[null,null,"Bleeding disorder, platelet-type, 18","RASGRP2"]
[null,null,"Bleeding disorder, platelet-type, 20","SLFN14"]
[null,null,"Bleeding disorder, platelet-type, 13, susceptibility to","TBXA2R"]
["Platelet glycoprotein IV deficiency","CD36","Platelet glycoprotein IV deficiency","CD36"]
["Poikiloderma","FAM111B,USB1","Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis","FAM111B"]
[null,null,"Poikiloderma with neutropenia","USB1"]
["Polycystic kidney disease","GANAB,PKD1,PKD2,PKHD1,PMM2","Polycyctic kidney disease 3","GANAB"]
[null,null,"Polycystic kidney disease, adult type 1","PKD1"]
[null,null,"Polycystic kidney disease, adult type 2","PKD2"]
[null,null,"Polycystic kidney disease recessive 1","PKHD1"]
[null,null,"Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia","PMM2"]
["Polycystic kidney disease, Dominant","GANAB,PKD1,PKD2","Polycyctic kidney disease 3","GANAB"]
[null,null,"Polycystic kidney disease, adult type 1","PKD1"]
[null,null,"Polycystic kidney disease, adult type 2","PKD2"]
["Polycystic kidney disease, Recessive","PKHD1","Polycystic kidney disease recessive 1","PKHD1"]
["Polycystic liver disease","PRKCSH,SEC63","Polycystic liver disease 1","PRKCSH"]
[null,null,"Polycystic liver disease 2","SEC63"]
["Polydactyly","GLI1,IQCE,LMBR1,ZNF141","Polydactyly, postaxial, type A8","GLI1"]
[null,null,"postaxial polydactyly type A7 ","IQCE"]
[null,null,"Polydactyly, preaxial type II","LMBR1"]
[null,null,"Polydactyly, postaxial, type A6","ZNF141"]
["polyendocrinopathy","AIRE,DMXL2,FOXP3","Autoimmune polyendocrinopathy syndrome type I","AIRE"]
[null,null,"Polyendocrine-polyneuropathy syndrome","DMXL2"]
[null,null,"Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked","FOXP3"]
["Polyhydramnios, megalencephaly, and symptomatic epilepsy","STRADA","Polyhydramnios, megalencephaly, and symptomatic epilepsy","STRADA"]
["Polymicrogyria","GPR56,OCLN,PI4KA,TUBB3","Polymicrogyria, bilateral frontoparietal","GPR56"]
[null,null,"Pseudo TORCH syndrome 1","OCLN"]
[null,null,"Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis","PI4KA"]
[null,null,"Cortical dysplasia, complex, with other brain malformations 1","TUBB3"]
["Pontocerebellar hypoplasia","AMPD2,CASK,CHMP1A,CLP1,EXOSC3,EXOSC8,KCNT1,LAMA1,OPHN1,PCLO,RARS2,SEPSECS,SPTAN1,TBC1D23,TOE1,TSEN15,TSEN2,TSEN34,TSEN54,VPS53,VRK1","Pontocerebellar hypoplasia, type 9","AMPD2"]
[null,null,"Mental retardation and microcephaly with pontine and cerebellar hypoplasia","CASK"]
[null,null,"Pontocerebellar hypoplasia, type 8","CHMP1A"]
[null,null,"Pontocerebellar hypoplasia, type 10","CLP1"]
[null,null,"Pontocerebellar hypoplasia, type 1B","EXOSC3"]
[null,null,"Pontocerebellar hypoplasia, type 1C","EXOSC8"]
[null,null,"Epileptic encephalopathy, early infantile, 14","KCNT1"]
[null,null,"Poretti-Boltshauser syndrome","LAMA1"]
[null,null,"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance","OPHN1"]
[null,null,"Pontocerebellar hypoplasia, type 3","PCLO"]
[null,null,"Pontocerebellar hypoplasia, type 6","RARS2"]
[null,null,"Pontocerebellar hypoplasia type 2D","SEPSECS"]
[null,null,"Epileptic encephalopathy, early infantile, 5","SPTAN1"]
[null,null,"Pontocerebellar hypoplasia, type 11","TBC1D23"]
[null,null,"Pontocerebellar hypoplasia","TOE1"]
[null,null,"Pontocerebellar hypoplasia, type 2F","TSEN15"]
[null,null,"Pontocerebellar hypoplasia type 2B","TSEN2"]
[null,null,"Pontocerebellar hypoplasia type 2C","TSEN34"]
[null,null,"Pontocerebellar hypoplasia type 2A, type 4","TSEN54"]
[null,null,"Pontocerebellar hypoplasia, type 2E","VPS53"]
[null,null,"Pontocerebellar hypoplasia type 1A","VRK1"]
["Popliteal pterygium syndrome","IRF6,RIPK4","Popliteal pterygium syndrome 1","IRF6"]
[null,null,"Popliteal pterygium syndrome 2, lethal type","RIPK4"]
["Porencephaly","COL4A1,COL4A2","Porencephaly 1","COL4A1"]
[null,null,"Porencephaly 2","COL4A2"]
["Porokeratosis","MVK,SLC17A9","Porokeratosis 3, multiple types","MVK"]
[null,null,"Porokeratosis 8, disseminated superficial actinic type","SLC17A9"]
["Porphyria","ALAD,ALAS2,CPOX,FECH,HMBS,PPOX,UROD,UROS","Porphyria, acute hepatic","ALAD"]
[null,null,"Protoporphyria, erythropoietic, X-linked","ALAS2"]
[null,null,"Coproporphyria","CPOX"]
[null,null,"Protoporphyria, erythropoietic, autosomal recessive","FECH"]
[null,null,"Porphyria, acute intermittent","HMBS"]
[null,null,"Porphyria variegata","PPOX"]
[null,null,"Porphyria cutanea tarda","UROD"]
[null,null,"Porphyria, congenital erythropoietic","UROS"]
["Precocious puberty","KISS1R,MKRN3","Precocious puberty, central, 1","KISS1R"]
[null,null,"Precocious puberty, central, 2","MKRN3"]
["Preeclampsia/eclampsia","CORIN,STOX1","Preeclampsia/eclampsia 5","CORIN"]
[null,null,"Preeclampsia/eclampsia 4","STOX1"]
["Primary aldosteronism, seizures, and neurologic abnormalities","CACNA1D","Primary aldosteronism, seizures, and neurologic abnormalities","CACNA1D"]
["Primary ciliary dyskinesia","ARMC4,C21ORF59,CCDC103,CCDC114,CCDC151,CCDC39,CCDC40,CCDC65,CCNO,CENPF,CFTR,DNAAF1,DNAAF2,DNAAF3,DNAH1,DNAH11,DNAH5,DNAI1,DNAI2,DNAJB13,DNAL1,DRC1,DYX1C1,HEATR2,HYDIN,INVS,LRRC6,NME8,OFD1,PIH1D3,RPGR,RSPH1,RSPH3,RSPH4A,RSPH9,SPAG1,TTC25,ZMYND10","Ciliary dyskinesia, primary, 23","ARMC4"]
[null,null,"Ciliary dyskinesia, primary, 26","C21ORF59"]
[null,null,"Ciliary dyskinesia, primary, 17","CCDC103"]
[null,null,"Ciliary dyskinesia, primary, 20","CCDC114"]
[null,null,"Ciliary dyskinesia, primary, 30","CCDC151"]
[null,null,"Ciliary dyskinesia, primary, 14","CCDC39"]
[null,null,"Ciliary dyskinesia, primary, 15","CCDC40"]
[null,null,"Ciliary dyskinesia, primary, 27","CCDC65"]
[null,null,"Ciliary dyskinesia, primary, 29","CCNO"]
[null,null,"Ciliary dyskinesia, primary, 31","CENPF"]
[null,null,"Cystic fibrosis","CFTR"]
[null,null,"Ciliary dyskinesia, primary, 13","DNAAF1"]
[null,null,"Ciliary dyskinesia, primary, 10","DNAAF2"]
[null,null,"Ciliary dyskinesia, primary, 2","DNAAF3"]
[null,null,"Ciliary dyskinesia, primary, 37","DNAH1"]
[null,null,"Ciliary dyskinesia, primary, 7","DNAH11"]
[null,null,"Ciliary dyskinesia, primary, 3","DNAH5"]
[null,null,"Ciliary dyskinesia, primary, 1","DNAI1"]
[null,null,"Ciliary dyskinesia, primary, 9","DNAI2"]
[null,null,"Ciliary dyskinesia, primary, 34","DNAJB13"]
[null,null,"Ciliary dyskinesia, primary, 16","DNAL1"]
[null,null,"Ciliary dyskinesia, primary, 21","DRC1"]
[null,null,"Ciliary dyskinesia, primary, 25","DYX1C1"]
[null,null,"Ciliary dyskinesia, primary, 18","HEATR2"]
[null,null,"Ciliary dyskinesia, primary, 5","HYDIN"]
[null,null,"Nephronophthisis 2, infantile","INVS"]
[null,null,"Ciliary dyskinesia, primary, 19","LRRC6"]
[null,null,"Ciliary dyskinesia, primary, 6","NME8"]
[null,null,"Orofaciodigital syndrome I","OFD1"]
[null,null,"Ciliary dyskinesia, primary, 36, X-linked","PIH1D3"]
[null,null,"Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness","RPGR"]
[null,null,"Ciliary dyskinesia, primary, 24","RSPH1"]
[null,null,"Ciliary dyskinesia, primary, 32","RSPH3"]
[null,null,"Ciliary dyskinesia, primary, 11","RSPH4A"]
[null,null,"Ciliary dyskinesia, primary, 12","RSPH9"]
[null,null,"Ciliary dyskinesia, primary, 28","SPAG1"]
[null,null,"Ciliary dyskinesia, primary, 35","TTC25"]
[null,null,"Ciliary dyskinesia, primary, 22","ZMYND10"]
["Primary open angle glaucoma","ASB10,CYP1B1,LTBP2,MYOC,NTF4,OPTN,TEK,WDR36","Glaucoma 1, open angle, F","ASB10"]
[null,null,"Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset","CYP1B1"]
[null,null,"Glaucoma 3, primary congenital, D","LTBP2"]
[null,null,"Glaucoma 1, open angle, A","MYOC"]
[null,null,"Glaucoma 1, open angle, O","NTF4"]
[null,null,"Glaucoma 1, open angle, E","OPTN"]
[null,null,"Glaucoma 3, primary congenital, E","TEK"]
[null,null,"Glaucoma 1, open angle, G","WDR36"]
["Primrose syndrome","ZBTB20","Primrose syndrome","ZBTB20"]
["Progeria","BANF1,LMNA","Nestor-Guillermo progeria syndrome","BANF1"]
[null,null,"Hutchinson-Gilford progeria","LMNA"]
["Progressive external ophthalmoplegia","C10orf2,DGUOK,DNA2,OPA1,POLG,POLG2,RNASEH1,RRM2B,SLC25A4,TK2,TOP3A","Progressive external ophthalmoplegia, autosomal dominant, 3","C10orf2"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4","DGUOK"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6","DNA2"]
[null,null,"Optic atrophy plus syndrome","OPA1"]
[null,null,"Progressive external ophthalmoplegia, autosomal dominant 1","POLG"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4","POLG2"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2","RNASEH1"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5","RRM2B"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions 3","SLC25A4"]
[null,null,"Progressive external ophthalmoplegia, autosomal recessive 1","TK2"]
[null,null,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5","TOP3A"]
["Progressive familial intrahepatic cholestasis","ABCB11,ABCB4,ATP8B1,NR1H4,TJP2","Cholestasis, progressive familial intrahepatic 2","ABCB11"]
[null,null,"Cholestasis, progressive familial intrahepatic 3","ABCB4"]
[null,null,"Cholestasis, progressive familial intrahepatic 1","ATP8B1"]
[null,null,"Cholestasis, progressive familial intrahepatic, 5","NR1H4"]
[null,null,"Cholestasis, progressive familial intrahepatic 4","TJP2"]
["Prolidase deficiency","PEPD","Prolidase deficiency","PEPD"]
["Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome","FLVCR2","Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome","FLVCR2"]
["Propionicacidemia","PCCA,PCCB","Propionicacidemia_PCCA","PCCA"]
[null,null,"Propionicacidemia_PCCB","PCCB"]
["Protein C deficiency","PROC","Thrombophilia due to protein C deficiency, autosomal dominant","PROC"]
["Protein S deficiency","PROS1","Thrombophilia due to protein S deficiency, autosomal dominant","PROS1"]
["Proximal myopathy","MICU1,TTN","Proximal myopathy, intellecutal disability, movement disorder","MICU1"]
[null,null,"Myopathy, proximal, with early respiratory muscle involvement","TTN"]
["Proximal myopathy with tubular aggregates","ORAI1,STIM1"," Myopathy, tubular aggregate, 2","ORAI1"]
[null,null," Myopathy, tubular aggregate, 1","STIM1"]
["Pseudohypoaldosteronism","CUL3,GNAS,KLHL3,NR3C2,SCNN1A,SCNN1B,SCNN1G,WNK1,WNK4","Pseudohypoaldosteronism type IIE_CUL3","CUL3"]
[null,null,"Pseudohypoaldosteronism, type IA","GNAS"]
[null,null,"Pseudohypoaldosteronism, type IID","KLHL3"]
[null,null,"Pseudohypoaldosteronism type I, autosomal dominant","NR3C2"]
[null,null,"Pseudohypoaldosteronism, type I, autosomal recessive 1","SCNN1A"]
[null,null,"Pseudohypoaldosteronism, type I, autosomal recessive 2","SCNN1B"]
[null,null,"Pseudohypoaldosteronism, type I, autosomal recessive 3","SCNN1G"]
[null,null,"Pseudohypoaldosteronism, type IIC","WNK1"]
[null,null,"Pseudohypoaldosteronism, type IIB","WNK4"]
["Pseudohypoparathyroidism","GNAS,STX16","Pseudohypoparathyroidism, type IB_GNAS","GNAS"]
[null,null,"Pseudohypoparathyroidism, type IB_STX16","STX16"]
["Pseudoxanthoma elasticum","ABCC6","Pseudoxanthoma elasticum","ABCC6"]
["Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency","GGCX","Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency","GGCX"]
["Psoriasis","IL36RN","Psoriasis 14, generalized pustular","IL36RN"]
["Psychomotor retardation, epilepsy, and craniofacial dysmorphism","SNIP1","Psychomotor retardation, epilepsy, and craniofacial dysmorphism","SNIP1"]
["Pulmonary fibrosis, idiopathic","ELMOD2,MUC5B,SFTPA1,TERC","Pulmonary fibrosis, idiopathic, susceptibility to_ELMOD2","ELMOD2"]
[null,null,"Pulmonary fibrosis, idiopathic, susceptibility to_MUC5B","MUC5B"]
[null,null,"Pulmonary fibrosis, idiopathic, susceptibility to_SFTPA1","SFTPA1"]
[null,null,"Pulmonary fibrosis, idiopathic, susceptibility to_TERC","TERC"]
["Pulmonary hypertension","ACVRL1,BMPR2,CAV1,EIF2AK4,ENG,KCNK3,SMAD9,TBX4","Telangiectasia, hereditary hemorrhagic, type 2","ACVRL1"]
[null,null,"Pulmonary hypertension, familial primary, 1, with or without HHT","BMPR2"]
[null,null,"Pulmonary hypertension, primary, 3","CAV1"]
[null,null,"Pulmonary venoocclusive disease 2","EIF2AK4"]
[null,null,"Telangiectasia, hereditary hemorrhagic, type 1","ENG"]
[null,null,"Pulmonary hypertension, primary, 4","KCNK3"]
[null,null,"Pulmonary hypertension, primary, 2","SMAD9"]
[null,null,"Ischiocoxopodopatellar syndrome","TBX4"]
["Pycnodysostosis","CTSK","Pycnodysostosis","CTSK"]
["Pyogenic bacterial infections, recurrent, due to MYD88 deficiency","MYD88","Pyogenic bacterial infections, recurrent, due to MYD88 deficiency","MYD88"]
["Pyogenic sterile arthritis, pyoderma gangrenosum, and acne","PSTPIP1","Pyogenic sterile arthritis, pyoderma gangrenosum, and acne","PSTPIP1"]
["Pyridoxamine 5'-phosphate oxidase deficiency","PNPO","Pyridoxamine 5'-phosphate oxidase deficiency","PNPO"]
["Pyruvate dehydrogenase complex deficiency","DLAT,LIAS,PC,PDHA1,PDHB,PDHX,PDP1","Pyruvate dehydrogenase E2 deficiency","DLAT"]
[null,null,"Hyperglycinemia, lactic acidosis, and seizures","LIAS"]
[null,null,"Pyruvate carboxylase deficiency","PC"]
[null,null,"Pyruvate dehydrogenase E1-alpha deficiency","PDHA1"]
[null,null,"Pyruvate dehydrogenase E1-beta deficiency","PDHB"]
[null,null,"Lacticacidemia due to PDX1 deficiency 1","PDHX"]
[null,null,"Pyruvate dehydrogenase phosphatase deficiency","PDP1"]
["Rabson-Mendenhall syndrome","INSR","Rabson-Mendenhall syndrome","INSR"]
["Raine syndrome","FAM20C","Raine syndrome","FAM20C"]
["Rapp-Hodgkin syndrome","TP63","Rapp-Hodgkin syndrome","TP63"]
["Red cell antigen","A4GALT,ABCB6,ABCG2,ABO,ACHE,AQP1,AQP3,ART4,B3GALNT1,BCAM,BSG,CD151,CD44,CD55,CD59,CR1,DARC,ERMAP,FUT1,FUT3,GCNT2,GYPA,GYPB,GYPC,ICAM4,KEL,KLF1,RHAG,RHCE,RHD,SEMA7A,SLC14A1,SLC29A1,SLC4A1,SMIM1,XK","P1PK system","A4GALT"]
[null,null,"Blood group, Langereis system","ABCB6"]
[null,null,"Junior antigen","ABCG2"]
[null,null,"ABO group","ABO"]
[null,null,"Yt antigen","ACHE"]
[null,null,"Colton group antigen, Blood group ","AQP1"]
[null,null,"GIL antigen","AQP3"]
[null,null,"Dombrock antigen","ART4"]
[null,null,"Globoside system","B3GALNT1"]
[null,null,"Lutheran system","BCAM"]
[null,null,"OK antigen","BSG"]
[null,null,"Raph antigen","CD151"]
[null,null,"Indian group","CD44"]
[null,null,"Cromer blood group system","CD55"]
[null,null,"CD59-mediated, with or without immune-mediated polyneuropathy, Hemolytic anemia ","CD59"]
[null,null,"Knops system","CR1"]
[null,null,"Duffy blood group","DARC"]
[null,null,"Radin blood groups","ERMAP"]
[null,null,"Bombay phenotype","FUT1"]
[null,null,"Lewis group","FUT3"]
[null,null,"Ii antigens","GCNT2"]
[null,null,"MN antigen","GYPA"]
[null,null,"Ss antigen","GYPB"]
[null,null,"Gerbich antigen","GYPC"]
[null,null,"Blood group, Landsteiner-Wiener","ICAM4"]
[null,null,"Kell antigen","KEL"]
[null,null,"Blood group--Lutheran inhibitor","KLF1"]
[null,null,"Rh Associated Glycoprotein, Anemia, hemolytic, Rh-null, regulator type","RHAG"]
[null,null,"RHCE, Rhesus Blood group","RHCE"]
[null,null,"RHD","RHD"]
[null,null,"John Milton Haegan","SEMA7A"]
[null,null,"Blood group, Kidd","SLC14A1"]
[null,null,"AUG antigen","SLC29A1"]
[null,null,"Blood group, Diego","SLC4A1"]
[null,null,"Vel antigen","SMIM1"]
[null,null,"Kx antigen, McLeod syndrome with or without chronic granulomatous disease ","XK"]
["Renal amyloidosis","LYZ","Amyloidosis, renal","LYZ"]
["Renal coloboma syndrome","PAX2","Renal coloboma syndrome","PAX2"]
["Renal cysts and diabetes syndrome","HNF1B","Renal cysts and diabetes syndrome","HNF1B"]
["Renal glucosuria","SLC2A1,SLC2A2,SLC5A1,SLC5A2","Glucose transporter 1 deficiency syndrome","SLC2A1"]
[null,null,"Fanconi-Bickel syndrome","SLC2A2"]
[null,null,"Glucose/galactose malabsorption","SLC5A1"]
[null,null,"Renal glucosuria","SLC5A2"]
["Renal Hepatic Ciliopathy","DCDC2","Renal Hepatic Ciliopathy","DCDC2"]
["Renal hypouricemia","SLC22A12,SLC2A9","Hypouricemia, renal, 1","SLC22A12"]
[null,null,"Hypouricemia, renal, 2","SLC2A9"]
["Renal tubular acidosis","ATP6V0A4,ATP6V1B1,CA2,SLC4A1,SLC4A4","Renal tubular acidosis, distal, autosomal recessive","ATP6V0A4"]
[null,null,"Renal tubular acidosis with deafness","ATP6V1B1"]
[null,null,"Osteopetrosis, autosomal recessive 3, with renal tubular acidosis","CA2"]
[null,null,"Renal tubular acidosis, distal","SLC4A1"]
[null,null,"Renal tubular acidosis, proximal, with ocular abnormalities","SLC4A4"]
["Renal tubular dysgenesis","ACE,AGT,AGTR1,REN","Renal tubular dysgenesis 1","ACE"]
[null,null,"Renal tubular dysgenesis 2","AGT"]
[null,null,"Renal tubular dysgenesis 3","AGTR1"]
[null,null,"Renal tubular dysgenesis 4","REN"]
["Restrictive dermopathy, lethal","ZMPSTE24","Restrictive dermopathy, lethal","ZMPSTE24"]
["Reticulate acropigmentation of Kitamura","ADAM10","Reticulate acropigmentation of Kitamura","ADAM10"]
["Retinal dystrophy panel","ABCA4,ABCC6,ABCD1,ABHD12,ACBD5,ACO2,ADAM9,ADAMTS18,AGBL5,AHI1,AIPL1,ALMS1,AMACR,AP3B2,ARL13B,ARL2BP,ARL6,ARMS2,ASB10,ATF6,ATOH7,B9D1,B9D2,BBIP1,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,BEST1,C12orf57,C12orf65,C1QTNF5,C2,C21ORF2,C2orf71,C3,C8orf37,C9,CA4,CABP4,CACNA1F,CACNA2D4,CAPN5,CC2D2A,CCDC111,CDH23,CDH3,CDHR1,CEP164,CEP250,CEP290,CEP41,CEP78,CERKL,CFB,CFH,CFI,CHD7,CHM,CIB2,CISD2,CLN3,CLN5,CLN6,CLN8,CLRN1,CNGA1,CNGA3,CNGB1,CNGB3,CNNM4,CRB1,CRX,CSPP1,CST3,CTNNA1,CTSD,CX3CR1,CYP1B1,CYP4V2,DFNB31,DHDDS,DNAJC5,DRAM2,DTHD1,EFEMP1,ELOVL4,ELP4,EMC1,ERCC6,EYS,FAM161A,FBLN5,FLVCR1,FRMD7,FSCN2,FZD4,GDF6,GNAT1,GNAT2,GNB3,GPR125,GPR179,GPR98,GRK1,GRM6,GRN,GUCA1A,GUCA1B,GUCY2D,HARS,HCN1,HGSNAT,HMCN1,HMX1,HTRA1,IDH3B,IFT140,IFT172,IFT27,IFT43,IGFBP7,IMPDH1,IMPG1,IMPG2,INPP5E,INVS,IQCB1,IRX1,ITM2B,JAG1,KCNJ13,KCNV2,KIAA1549,KIF11,KIF7,KLHL7,LAMA1,LCA5,LEPREL1,LRAT,LRIT3,LRP5,LRPAP1,LTBP2,LZTFL1,MAK,MAPKAPK3,MECR,MERTK,MFN2,MFRP,MFSD8,MIR204,MKKS,MKS1,MTTP,MVK,MYO7A,MYOC,NDP,NEK2,NMNAT1,NPHP1,NPHP3,NPHP4,NR2E3,NR2F1,NRL,NTF4,NYX,OAT,OFD1,OPA1,OPA3,OPTN,OR2W3,OTX2,P4HA2,PANK2,PAX2,PAX6,PCDH15,PCYT1A,PDE6A,PDE6B,PDE6C,PDE6D,PDE6G,PDE6H,PDZD7,PEX1,PEX10,PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PGK1,PHYH,PITPNM3,PLA2G5,PLK1S1,PLK4,PNPLA6,POC1B,POMGNT1,PPT1,PRCD,PRDM13,PROM1,PRPF3,PRPF31,PRPF4,PRPF6,PRPF8,PRPH2,PRPS1,RAB28,RAX2,RB1,RBP3,RBP4,RCBTB1,RD3,RDH11,RDH12,REEP6,RGR,RGS9,RGS9BP,RHO,RIMS1,RLBP1,ROM1,RP1,RP1L1,RP2,RP9,RPE65,RPGR,RPGRIP1,RPGRIP1L,RS1,RTN4IP1,SAG,SALL2,SCO2,SDCCAG8,SEMA3E,SEMA4A,SLC24A1,SLC39A5,SLC7A14,SNRNP200,SPATA7,SPP2,TCTN1,TCTN2,TCTN3,TEAD1,TEK,TIMM8A,TIMP3,TLR3,TLR4,TMEM126A,TMEM138,TMEM216,TMEM231,TMEM67,TMEM98,TOPORS,TPP1,TRAF3IP1,TREX1,TRIM32,TRIM44,TRNT1,TRPM1,TSPAN12,TTC21B,TTC8,TTLL5,TTPA,TUB,TUBGCP4,TUBGCP6,TULP1,UNC119,USH1C,USH1G,USH2A,VCAN,VPS13B,WDPCP,WDR19,WDR36,XYLT2,YAP1,YME1L1,ZNF408,ZNF513,ZNF644","Cone-rod dystrophy 3","ABCA4"]
[null,null,"Pseudoxanthoma elasticum","ABCC6"]
[null,null,"Adrenoleukodystrophy","ABCD1"]
[null,null,"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract","ABHD12"]
[null,null,"Syndromic retinal disease_ACBD5","ACBD5"]
[null,null,"Optic atrophy 9","ACO2"]
[null,null,"Cone-rod dystrophy 9","ADAM9"]
[null,null,"Microcornea, myopic chorioretinal atrophy, and telecanthus","ADAMTS18"]
[null,null,"Retinitis pigmentosa 75","AGBL5"]
[null,null,"Joubert syndrome 3","AHI1"]
[null,null,"Cone-rod dystrophy_AIPL1","AIPL1"]
[null,null,"Alstrom syndrome","ALMS1"]
[null,null,"Alpha-methylacyl-CoA racemase deficiency","AMACR"]
[null,null,"Early-Onset Epileptic Encephalopathy with Optic Atrophy","AP3B2"]
[null,null,"Joubert syndrome 8","ARL13B"]
[null,null,"Retinitis pigmentosa with or without situs inversus","ARL2BP"]
[null,null,"Retinitis pigmentosa 55","ARL6"]
[null,null,"Macular degeneration, age-related, 8","ARMS2"]
[null,null,"Glaucoma 1, open angle, F","ASB10"]
[null,null,"Achromatopsia 7","ATF6"]
[null,null,"Persistent hyperplastic primary vitreous, autosomal recessive","ATOH7"]
[null,null,"Joubert syndrome 27","B9D1"]
[null,null,"Meckel syndrome, type 10","B9D2"]
[null,null,"Bardet-Biedl syndrome 18","BBIP1"]
[null,null,"Bardet-Biedl syndrome 1","BBS1"]
[null,null,"Bardet-Biedl syndrome 10","BBS10"]
[null,null,"Bardet-Biedl syndrome 12","BBS12"]
[null,null,"Retinitis pigmentosa 74","BBS2"]
[null,null,"Bardet-Biedl syndrome 4","BBS4"]
[null,null,"Bardet-Biedl syndrome 5","BBS5"]
[null,null,"Bardet-Biedl syndrome 7","BBS7"]
[null,null,"Bardet-Biedl syndrome 9","BBS9"]
[null,null,"Macular dystrophy, vitelliform, 2 / BEST macular dystrophy","BEST1"]
[null,null,"Temtamy syndrome","C12orf57"]
[null,null,"Retinopathy , autosomal recessive","C12orf65"]
[null,null,"Retinal degeneration, late-onset, autosomal dominant","C1QTNF5"]
[null,null,"Macular degeneration, age-related, 14a","C2"]
[null,null,"Cone-rod dystrophy_C21orf2","C21ORF2"]
[null,null,"Retinitis pigmentosa 54","C2orf71"]
[null,null,"Macular degeneration, age-related, 9","C3"]
[null,null,"Cone-rod dystrophy 16","C8orf37"]
[null,null,"Macular degeneration, age-related, 15","C9"]
[null,null,"Retinitis pigmentosa 17","CA4"]
[null,null,"Cone-rod synaptic disorder, congenital nonprogressive","CABP4"]
[null,null,"Cone-rod dystropy, X-linked, 3","CACNA1F"]
[null,null,"Retinal cone dystrophy 4","CACNA2D4"]
[null,null,"Vitreoretinopathy, neovascular inflammatory","CAPN5"]
[null,null,"COACH syndrome 1","CC2D2A"]
[null,null,"Myopia 22, autosomal dominant","CCDC111"]
[null,null,"Usher syndrome, type 1D","CDH23"]
[null,null,"Ectodermal dysplasia, ectrodactyly, and macular dystrophy","CDH3"]
[null,null,"Cone-rod dystrophy 15","CDHR1"]
[null,null,"Nephronophthisis 15","CEP164"]
[null,null,"Usher-Like","CEP250"]
[null,null,"Senior-Loken syndrome 6","CEP290"]
[null,null,"Joubert syndrome 15","CEP41"]
[null,null,"Cone-rod dystrophy associated with primary-cilia defects","CEP78"]
[null,null,"Cone-rod dystrophy_CERKL","CERKL"]
[null,null,"Macular degeneration, age-related, 14b","CFB"]
[null,null,"Macular degeneration, age-related, 4","CFH"]
[null,null,"Macular degeneration, age-related, 13","CFI"]
[null,null,"CHARGE syndrome 1","CHD7"]
[null,null,"Choroideremia","CHM"]
[null,null,"Usher syndrome, type IJ","CIB2"]
[null,null,"Wolfram syndrome 2","CISD2"]
[null,null,"Ceroid lipofuscinosis, neuronal, 3","CLN3"]
[null,null,"Ceroid lipofuscinosis, neuronal, 5","CLN5"]
[null,null,"Ceroid lipofuscinosis, neuronal, 6","CLN6"]
[null,null,"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant","CLN8"]
[null,null,"Retinitis pigmentosa 61","CLRN1"]
[null,null,"Retinitis pigmentosa 49","CNGA1"]
[null,null,"Achromatopsia 2","CNGA3"]
[null,null,"Retinitis pigmentosa 45","CNGB1"]
[null,null,"Achromatopsia 3","CNGB3"]
[null,null,"Jalili syndrome","CNNM4"]
[null,null,"Leber congenital amaurosis 8","CRB1"]
[null,null,"Cone-rod dystrophy 2","CRX"]
[null,null,"Joubert syndrome 21","CSPP1"]
[null,null,"Macular degeneration, age-related, 11","CST3"]
[null,null,"Macular dystrophy, patterned, 2","CTNNA1"]
[null,null,"Ceroid lipofuscinosis, neuronal, 10","CTSD"]
[null,null,"Macular degeneration, age-related, 12","CX3CR1"]
[null,null,"Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset","CYP1B1"]
[null,null,"Bietti crystalline corneoretinal dystrophy","CYP4V2"]
[null,null,"Usher syndrome, type 2D","DFNB31"]
[null,null,"Retinitis pigmentosa 59","DHDDS"]
[null,null,"Ceroid lipofuscinosis, neuronal, 4","DNAJC5"]
[null,null,"Cone-rod dystrophy 21","DRAM2"]
[null,null,"Leber congenital amaurosis_DHDT1","DTHD1"]
[null,null,"Doyne honeycomb degeneration of retina","EFEMP1"]
[null,null,"Stargardt disease 3","ELOVL4"]
[null,null,"Aniridia 2","ELP4"]
[null,null,"Cerebellar atrophy, visual impairment, and psychomotor retardation","EMC1"]
[null,null,"Macular degeneration, age-related, 5","ERCC6"]
[null,null,"Retinitis pigmentosa 25","EYS"]
[null,null,"Retinitis pigmentosa 28","FAM161A"]
[null,null,"Macular degeneration, age-related, 3","FBLN5"]
[null,null,"Ataxia, posterior column, with retinitis pigmentosa","FLVCR1"]
[null,null,"Nystagmus 1, congenital, X-linked","FRMD7"]
[null,null,"Retinitis pigmentosa 30","FSCN2"]
[null,null,"Exudative vitreoretinopathy 1","FZD4"]
[null,null,"Leber congenital amaurosis 17","GDF6"]
[null,null,"Night blindness, congenital stationary, autosomal dominant 3","GNAT1"]
[null,null,"Achromatopsia 4","GNAT2"]
[null,null,"Night blindness, congenital stationary, autosomal recessive","GNB3"]
[null,null,"Retinitis pigmentosa (autosomal recessive)","GPR125"]
[null,null,"Night blindness, congenital stationary (complete), 1E, autosomal recessive","GPR179"]
[null,null,"Usher syndrome, type 2C","GPR98"]
[null,null,"Oguchi disease-2","GRK1"]
[null,null,"Night blindness, congenital stationary (complete), 1B, autosomal recessive","GRM6"]
[null,null,"Ceroid lipofuscinosis, neuronal, 11","GRN"]
[null,null,"Cone dystrophy 3","GUCA1A"]
[null,null,"Retinitis pigmentosa 48","GUCA1B"]
[null,null,"Cone-rod dystrophy 6","GUCY2D"]
[null,null,"Usher syndrome type 3B","HARS"]
[null,null,"Epileptic encephalopathy, early infantile, 24","HCN1"]
[null,null,"Retinitis pigmentosa 73","HGSNAT"]
[null,null,"Macular degeneration, age-related, 1","HMCN1"]
[null,null,"Oculoauricular syndrome","HMX1"]
[null,null,"Macular degeneration, age-related, 7","HTRA1"]
[null,null,"Retinitis pigmentosa 46","IDH3B"]
[null,null,"Leber congenital amaurosis_IFT140","IFT140"]
[null,null,"Retinitis pigmentosa 71","IFT172"]
[null,null,"Bardet-Biedl syndrome 19","IFT27"]
[null,null,"Retinitis pigmentosa, 81","IFT43"]
[null,null,"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis","IGFBP7"]
[null,null,"Leber congenital amaurosis 11","IMPDH1"]
[null,null,"Macular dystrophy, vitelliform, 4","IMPG1"]
[null,null,"Macular dystrophy, vitelliform, 5","IMPG2"]
[null,null,"Mental retardation, truncal obesity, retinal dystrophy, and micropenis","INPP5E"]
[null,null,"Nephronophthisis 2, infantile","INVS"]
[null,null,"Senior-Loken syndrome 5","IQCB1"]
[null,null,"Macular dystrophy, North Carolina type 1","IRX1"]
[null,null,"Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities","ITM2B"]
[null,null,"Alagille syndrome 1","JAG1"]
[null,null,"Leber congenital amaurosis 16","KCNJ13"]
[null,null,"Retinal cone dystrophy 3B","KCNV2"]
[null,null,"Retinitis pigmentosa_KIAA1549","KIAA1549"]
[null,null,"Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation","KIF11"]
[null,null,"Joubert syndrome 12","KIF7"]
[null,null,"Retinitis pigmentosa 42","KLHL7"]
[null,null,"Poretti-Boltshauser syndrome","LAMA1"]
[null,null,"Leber congenital amaurosis 5","LCA5"]
[null,null,"Myopia, high, with cataract and vitreoretinal degeneration","LEPREL1"]
[null,null,"Leber congenital amaurosis 14","LRAT"]
[null,null,"Night blindness, congenital stationary (complete), 1F, autosomal recessive","LRIT3"]
[null,null,"Exudative vitreoretinopathy 4","LRP5"]
[null,null,"Myopia 23, autosomal recessive","LRPAP1"]
[null,null,"Glaucoma 3, primary congenital, D","LTBP2"]
[null,null,"Bardet-Biedl syndrome 17","LZTFL1"]
[null,null,"Retinitis pigmentosa 62","MAK"]
[null,null,"Macular dystrophy, patterned, 3","MAPKAPK3"]
[null,null,"Childhood-Onset Dystonia and Optic Atrophy","MECR"]
[null,null,"Retinitis pigmentosa 38","MERTK"]
[null,null,"Charcot-Marie-Tooth disease, type 2A2","MFN2"]
[null,null,"Nanophthalmos 2","MFRP"]
[null,null,"Ceroid lipofuscinosis, neuronal, 7","MFSD8"]
[null,null,"Retinal dystrophy and iris coloboma with or without cataract","MIR204"]
[null,null,"Bardet-Biedl syndrome 6","MKKS"]
[null,null,"Bardet-Biedl syndrome 13","MKS1"]
[null,null,"Abetalipoproteinemia","MTTP"]
[null,null,"Ataxia and retinitis pigmentosa","MVK"]
[null,null,"Usher syndrome, type 1B","MYO7A"]
[null,null,"Glaucoma 1, open angle, A","MYOC"]
[null,null,"Exudative vitreoretinopathy 2, X-linked","NDP"]
[null,null,"Retinitis pigmentosa 67","NEK2"]
[null,null,"Leber congenital amaurosis 9","NMNAT1"]
[null,null,"Senior-Loken syndrome 1","NPHP1"]
[null,null,"Meckel syndrome 7","NPHP3"]
[null,null,"Senior-Loken syndrome 4","NPHP4"]
[null,null,"Retinitis pigmentosa 37","NR2E3"]
[null,null,"Bosch-Boonstra-Schaaf optic atrophy syndrome","NR2F1"]
[null,null,"Retinitis pigmentosa 27","NRL"]
[null,null,"Glaucoma 1, open angle, O","NTF4"]
[null,null,"Night blindness, congenital stationary (complete), 1A, X-linked","NYX"]
[null,null,"Gyrate atrophy of choroid and retina with or without ornithinemia","OAT"]
[null,null,"Retinitis pigmentosa 23","OFD1"]
[null,null,"Optic atrophy plus syndrome","OPA1"]
[null,null,"Optic atrophy 3","OPA3"]
[null,null,"Glaucoma 1, open angle, E","OPTN"]
[null,null,"Retinitis pigmentosa_OR2W3","OR2W3"]
[null,null,"Microphthalmia, syndromic 5","OTX2"]
[null,null,"Myopia 25, autosomal dominant","P4HA2"]
[null,null,"Neurodegeneration with brain iron accumulation 1","PANK2"]
[null,null,"Renal Coloboma syndrome","PAX2"]
[null,null,"Aniridia 1","PAX6"]
[null,null,"Usher syndrome, type 1F","PCDH15"]
[null,null,"Spondylometaphyseal dysplasia with cone-rod dystrophy","PCYT1A"]
[null,null,"Retinitis pigmentosa 43","PDE6A"]
[null,null,"Night blindness, congenital stationary, autosomal dominant 2","PDE6B"]
[null,null,"Cone dystrophy 4","PDE6C"]
[null,null,"Joubert syndrome 22","PDE6D"]
[null,null,"Retinitis pigmentosa 57","PDE6G"]
[null,null,"Retinal cone dystrophy 3A","PDE6H"]
[null,null,"Usher syndrome, type IIC","PDZD7"]
[null,null,"Peroxisome biogenesis disorder 1A, 1B","PEX1"]
[null,null,"Peroxisome biogenesis disorder 6A, 6B","PEX10"]
[null,null,"Peroxisome biogenesis disorder 14B","PEX11B"]
[null,null,"Peroxisome biogenesis disorder 3A, 3B","PEX12"]
[null,null,"Peroxisome biogenesis disorder 11A, 11B","PEX13"]
[null,null,"Peroxisome biogenesis disorder 13A","PEX14"]
[null,null,"Peroxisome biogenesis disorder 8A, 8B","PEX16"]
[null,null,"Peroxisome biogenesis disorder 12A","PEX19"]
[null,null,"Peroxisome biogenesis disorder 5A, 5B","PEX2"]
[null,null,"Peroxisome biogenesis disorder 7A, 7B","PEX26"]
[null,null,"Peroxisome biogenesis disorder 10A","PEX3"]
[null,null,"Peroxisome biogenesis disorder 2A, 2B","PEX5"]
[null,null,"Peroxisome biogenesis disorder 4A, 4B","PEX6"]
[null,null,"Peroxisome biogenesis disorder 9B","PEX7"]
[null,null,"Phosphoglycerate kinase 1 deficiency","PGK1"]
[null,null,"Refsum disease","PHYH"]
[null,null,"Cone-rod dystrophy 5","PITPNM3"]
[null,null,"Fleck retina, familial benign","PLA2G5"]
[null,null,"Retinitis pigmentosa 69","PLK1S1"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 2","PLK4"]
[null,null,"Boucher-Neuhauser syndrome","PNPLA6"]
[null,null,"Cone-rod dystrophy 20","POC1B"]
[null,null,"Retinitis pigmentosa 76","POMGNT1"]
[null,null,"Ceroid lipofuscinosis, neuronal, 1","PPT1"]
[null,null,"Retinitis pigmentosa 36","PRCD"]
[null,null,"Macular dystrophy, North Carolina type 2","PRDM13"]
[null,null,"Cone-rod dystrophy 12","PROM1"]
[null,null,"Retinitis pigmentosa 18","PRPF3"]
[null,null,"Retinitis pigmentosa 11","PRPF31"]
[null,null,"Retinitis pigmentosa 70","PRPF4"]
[null,null,"Retinitis pigmentosa 60","PRPF6"]
[null,null,"Retinitis pigmentosa 13","PRPF8"]
[null,null,"Retinitis punctata albescens 1","PRPH2"]
[null,null,"Arts syndrome","PRPS1"]
[null,null,"Cone-rod dystrophy 18","RAB28"]
[null,null,"Cone-rod dystrophy 11","RAX2"]
[null,null,"Retinoblastoma","RB1"]
[null,null,"Retinitis pigmentosa 66","RBP3"]
[null,null,"Retinal dystrophy, iris coloboma, and comedogenic acne syndrome","RBP4"]
[null,null,"Isolated and Syndromic Retinal Dystrophy","RCBTB1"]
[null,null,"Leber congenital amaurosis 12","RD3"]
[null,null,"Retinal dystrophy, juvenile cataracts, and short stature syndrome","RDH11"]
[null,null,"Leber congenital amaurosis 13","RDH12"]
[null,null,"Retinitis pigmentosa 77","REEP6"]
[null,null,"Retinitis pigmentosa 44","RGR"]
[null,null,"Bradyopsia 1","RGS9"]
[null,null,"Bradyopsia 2","RGS9BP"]
[null,null,"Night blindness, congenital stationary, autosomal dominant 1","RHO"]
[null,null,"Cone-rod dystrophy 7","RIMS1"]
[null,null,"Bothnia retinal dystrophy","RLBP1"]
[null,null,"Retinitis pigmentosa 7, digenic","ROM1"]
[null,null,"Retinitis pigmentosa 1","RP1"]
[null,null,"Occult macular dystrophy","RP1L1"]
[null,null,"Retinitis pigmentosa 2","RP2"]
[null,null,"Retinitis pigmentosa 9","RP9"]
[null,null,"Leber congenital amaurosis 2","RPE65"]
[null,null,"Cone-rod dystrophy, X-linked, 1","RPGR"]
[null,null,"Cone-rod dystrophy 13","RPGRIP1"]
[null,null,"COACH syndrome 3","RPGRIP1L"]
[null,null,"Retinoschisis","RS1"]
[null,null,"Optic atrophy 10 with or without ataxia, mental retardation, and seizures","RTN4IP1"]
[null,null,"Oguchi disease-1","SAG"]
[null,null,"Coloboma, ocular, autosomal recessive","SALL2"]
[null,null,"Myopia 6","SCO2"]
[null,null,"Senior-Loken syndrome 7","SDCCAG8"]
[null,null,"CHARGE syndrome 2","SEMA3E"]
[null,null,"Cone-rod dystrophy 10","SEMA4A"]
[null,null,"Night blindness, congenital stationary (complete), 1D, autosomal recessive","SLC24A1"]
[null,null,"Myopia 24, autosomal dominant","SLC39A5"]
[null,null,"Retinitis pigmentosa 68","SLC7A14"]
[null,null,"Retinitis pigmentosa 33","SNRNP200"]
[null,null,"Leber congenital amaurosis 3","SPATA7"]
[null,null,"Retinitis pigmentosa_SPP2","SPP2"]
[null,null,"Joubert syndrome 13","TCTN1"]
[null,null,"Joubert syndrome 24","TCTN2"]
[null,null,"Joubert syndrome 18","TCTN3"]
[null,null,"Sveinsson choreoretinal atrophy","TEAD1"]
[null,null,"Glaucoma 3, primary congenital, E","TEK"]
[null,null,"Mohr-Tranebjaerg syndrome","TIMM8A"]
[null,null,"Sorsby fundus dystrophy","TIMP3"]
[null,null,"Age related macular degeneration","TLR3"]
[null,null,"Macular degeneration, age-related, 10","TLR4"]
[null,null,"Optic atrophy 7","TMEM126A"]
[null,null,"Joubert syndrome 16","TMEM138"]
[null,null,"Joubert syndrome 2","TMEM216"]
[null,null,"Joubert syndrome 20","TMEM231"]
[null,null,"COACH syndrome 2","TMEM67"]
[null,null,"Nanophthalmos 4","TMEM98"]
[null,null,"Retinitis pigmentosa 31","TOPORS"]
[null,null,"Ceroid lipofuscinosis, neuronal, 2","TPP1"]
[null,null,"Senior-Loken syndrome 9","TRAF3IP1"]
[null,null,"Vasculopathy, retinal, with cerebral leukodystrophy","TREX1"]
[null,null,"Bardet-Biedl syndrome 11","TRIM32"]
[null,null,"Aniridia 3","TRIM44"]
[null,null,"Retinitis Pigmentosa and erythrocytic microcytosis","TRNT1"]
[null,null,"Night blindness, congenital stationary (complete), 1C, autosomal recessive","TRPM1"]
[null,null,"Exudative vitreoretinopathy 5","TSPAN12"]
[null,null,"Joubert syndrome 11","TTC21B"]
[null,null,"Retinitis pigmentosa 51","TTC8"]
[null,null,"Cone-rod dystrophy 19","TTLL5"]
[null,null,"Ataxia with isolated vitamin E deficiency","TTPA"]
[null,null,"Retinal dystrophy and obesity","TUB"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 3","TUBGCP4"]
[null,null,"Microcephaly and chorioretinopathy, autosomal recessive, 1","TUBGCP6"]
[null,null,"Leber congenital amaurosis 15","TULP1"]
[null,null,"Cone-rod dystrophy_UNC119","UNC119"]
[null,null,"Usher syndrome, type 1C","USH1C"]
[null,null,"Usher syndrome, type 1G","USH1G"]
[null,null,"Retinitis pigmentosa 39","USH2A"]
[null,null,"Wagner syndrome 1","VCAN"]
[null,null,"Cohen Syndrome","VPS13B"]
[null,null,"Bardet-Biedl syndrome 15","WDPCP"]
[null,null,"Senior-Loken syndrome 8","WDR19"]
[null,null,"Glaucoma 1, open angle, G","WDR36"]
[null,null,"Spondyloocular syndrome","XYLT2"]
[null,null,"Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation","YAP1"]
[null,null,"Optic atrophy 11","YME1L1"]
[null,null,"Exudative vitreoretinopathy 6","ZNF408"]
[null,null,"Retinitis pigmentosa 58","ZNF513"]
[null,null,"Myopia 21, autosomal dominant","ZNF644"]
[]
["Retinitis pigmentosa","ABCA4,AGBL5,AIPL1,ARL2BP,ARL6,BBS2,BEST1,C2orf71,C8orf37,CA4,CDHR1,CERKL,CLRN1,CNGA1,CNGB1,CRB1,DHDDS,EXOSC2,EYS,FAM161A,FSCN2,GPR125,GUCA1B,HGSNAT,HK1,IDH3B,IFT140,IFT172,IFT43,IMPDH1,IMPG2,KIAA1549,KLHL7,LRAT,MAK,MERTK,NEK2,NR2E3,NRL,OFD1,OR2W3,PDE6A,PDE6B,PDE6G,PLK1S1,POMGNT1,PRCD,PROM1,PRPF3,PRPF31,PRPF4,PRPF6,PRPF8,PRPH2,RBP3,RDH12,REEP6,RGR,RHO,RLBP1,ROM1,RP1,RP1L1,RP2,RP9,RPE65,RPGR,SAG,SEMA4A,SLC7A14,SNRNP200,SPATA7,SPP2,TOPORS,TTC8,TULP1,USH2A,ZNF408,ZNF513","Retinitis pigmentosa 19","ABCA4"]
[null,null,"Retinitis pigmentosa 75","AGBL5"]
[null,null,"Retinitis pigmentosa, juvenile_AIPL1","AIPL1"]
[null,null,"Retinitis pigmentosa with or without situs inversus","ARL2BP"]
[null,null,"Retinitis pigmentosa 55","ARL6"]
[null,null,"Retinitis pigmentosa 74","BBS2"]
[null,null,"Retinitis pigmentosa 50","BEST1"]
[null,null,"Retinitis pigmentosa 54","C2orf71"]
[null,null,"Retinitis pigmentosa 64","C8orf37"]
[null,null,"Retinitis pigmentosa 17","CA4"]
[null,null,"Retinitis pigmentosa 65","CDHR1"]
[null,null,"Retinitis pigmentosa 26","CERKL"]
[null,null,"Retinitis pigmentosa 61","CLRN1"]
[null,null,"Retinitis pigmentosa 49","CNGA1"]
[null,null,"Retinitis pigmentosa 45","CNGB1"]
[null,null,"Retinitis pigmentosa 12","CRB1"]
[null,null,"Retinitis pigmentosa 59","DHDDS"]
[null,null,"short stature, hearing loss, retinitis pigmentosa, and distinctive facies","EXOSC2"]
[null,null,"Retinitis pigmentosa 25","EYS"]
[null,null,"Retinitis pigmentosa 28","FAM161A"]
[null,null,"Retinitis pigmentosa 30","FSCN2"]
[null,null,"Retinitis pigmentosa_GPR125","GPR125"]
[null,null,"Retinitis pigmentosa 48","GUCA1B"]
[null,null,"Retinitis pigmentosa 73","HGSNAT"]
[null,null,"Retinitis pigmentosa 79","HK1"]
[null,null,"Retinitis pigmentosa 46","IDH3B"]
[null,null,"Retinitis pigmentosa 80","IFT140"]
[null,null,"Retinitis pigmentosa 71","IFT172"]
[null,null,"Retinitis pigmentosa, 81","IFT43"]
[null,null,"Retinitis pigmentosa 10","IMPDH1"]
[null,null,"Retinitis pigmentosa 56","IMPG2"]
[null,null,"Retinitis pigmentosa_KIAA1549","KIAA1549"]
[null,null,"Retinitis pigmentosa 42","KLHL7"]
[null,null,"Retinitis pigmentosa, juvenile_LRAT","LRAT"]
[null,null,"Retinitis pigmentosa 62","MAK"]
[null,null,"Retinitis pigmentosa 38","MERTK"]
[null,null,"Retinitis pigmentosa 67","NEK2"]
[null,null,"Retinitis pigmentosa 37","NR2E3"]
[null,null,"Retinitis pigmentosa 27","NRL"]
[null,null,"Retinitis pigmentosa 23","OFD1"]
[null,null,"Retinitis pigmentosa_OR2W3","OR2W3"]
[null,null,"Retinitis pigmentosa 43","PDE6A"]
[null,null,"Retinitis pigmentosa 40","PDE6B"]
[null,null,"Retinitis pigmentosa 57","PDE6G"]
[null,null,"Retinitis pigmentosa 69","PLK1S1"]
[null,null,"Retinitis pigmentosa 76","POMGNT1"]
[null,null,"Retinitis pigmentosa 36","PRCD"]
[null,null,"Retinitis pigmentosa 41","PROM1"]
[null,null,"Retinitis pigmentosa 18","PRPF3"]
[null,null,"Retinitis pigmentosa 11","PRPF31"]
[null,null,"Retinitis pigmentosa 70","PRPF4"]
[null,null,"Retinitis pigmentosa 60","PRPF6"]
[null,null,"Retinitis pigmentosa 13","PRPF8"]
[null,null,"Retinitis pigmentosa 7","PRPH2"]
[null,null,"Retinitis pigmentosa 66","RBP3"]
[null,null,"Retinitis pigmentosa 53","RDH12"]
[null,null,"Retinitis pigmentosa 77","REEP6"]
[null,null,"Retinitis pigmentosa 44","RGR"]
[null,null,"Retinitis pigmentosa 4, autosomal dominant or recessive","RHO"]
[null,null,"Bothnia retinal dystrophy","RLBP1"]
[null,null,"Retinitis pigmentosa 7, digenic","ROM1"]
[null,null,"Retinitis pigmentosa 1","RP1"]
[null,null,"Occult macular dystrophy","RP1L1"]
[null,null,"Retinitis pigmentosa 2","RP2"]
[null,null,"Retinitis pigmentosa 9","RP9"]
[null,null,"Retinitis pigmentosa 20","RPE65"]
[null,null,"Retinitis pigmentosa 3","RPGR"]
[null,null,"Retinitis pigmentosa 47","SAG"]
[null,null,"Retinitis pigmentosa 35","SEMA4A"]
[null,null,"Retinitis pigmentosa 68","SLC7A14"]
[null,null,"Retinitis pigmentosa 33","SNRNP200"]
[null,null,"Retinitis pigmentosa, juvenile, autosomal recessive","SPATA7"]
[null,null,"Retinitis pigmentosa_SPP2","SPP2"]
[null,null,"Retinitis pigmentosa 31","TOPORS"]
[null,null,"Retinitis pigmentosa 51","TTC8"]
[null,null,"Retinitis pigmentosa 14","TULP1"]
[null,null,"Retinitis pigmentosa 39","USH2A"]
[null,null,"Retinitis pigmentosa 72","ZNF408"]
[null,null,"Retinitis pigmentosa 58","ZNF513"]
["Retinitis pigmentosa-dominant","CA4,FSCN2,GUCA1B,HK1,IMPDH1,KLHL7,NR2E3,NRL,OR2W3,PRPF3,PRPF31,PRPF4,PRPF6,PRPF8,PRPH2,RDH12,ROM1,RP9,SEMA4A,SNRNP200,SPP2,TOPORS","Retinitis pigmentosa 17","CA4"]
[null,null,"Retinitis pigmentosa 30","FSCN2"]
[null,null,"Retinitis pigmentosa 48","GUCA1B"]
[null,null,"Retinitis pigmentosa 79","HK1"]
[null,null,"Retinitis pigmentosa 10","IMPDH1"]
[null,null,"Retinitis pigmentosa 42","KLHL7"]
[null,null,"Retinitis pigmentosa 37","NR2E3"]
[null,null,"Retinitis pigmentosa 27","NRL"]
[null,null,"Retinitis pigmentosa_OR2W3","OR2W3"]
[null,null,"Retinitis pigmentosa 18","PRPF3"]
[null,null,"Retinitis pigmentosa 11","PRPF31"]
[null,null,"Retinitis pigmentosa 70","PRPF4"]
[null,null,"Retinitis pigmentosa 60","PRPF6"]
[null,null,"Retinitis pigmentosa 13","PRPF8"]
[null,null,"Retinitis pigmentosa 7","PRPH2"]
[null,null,"Retinitis pigmentosa 53","RDH12"]
[null,null,"Retinitis pigmentosa 7, digenic","ROM1"]
[null,null,"Retinitis pigmentosa 9","RP9"]
[null,null,"Retinitis pigmentosa 35","SEMA4A"]
[null,null,"Retinitis pigmentosa 33","SNRNP200"]
[null,null,"Retinitis pigmentosa_SPP2","SPP2"]
[null,null,"Retinitis pigmentosa 31","TOPORS"]
["Retinitis pigmentosa-recessive","ABCA4,AGBL5,AIPL1,ARL2BP,ARL6,BBS2,BEST1,C2orf71,C8orf37,CDHR1,CERKL,CLRN1,CNGA1,CNGB1,CRB1,DHDDS,EXOSC2,EYS,FAM161A,GPR125,HGSNAT,IDH3B,IFT140,IFT172,IFT43,IMPG2,KIAA1549,LRAT,MAK,MERTK,NEK2,PDE6A,PDE6B,PDE6G,PLK1S1,POMGNT1,PRCD,PROM1,RBP3,REEP6,RGR,RHO,RLBP1,RP1,RP1L1,RPE65,SAG,SLC7A14,SPATA7,TTC8,TULP1,USH2A,ZNF408,ZNF513","Retinitis pigmentosa 19","ABCA4"]
[null,null,"Retinitis pigmentosa 75","AGBL5"]
[null,null,"Retinitis pigmentosa, juvenile_AIPL1","AIPL1"]
[null,null,"Retinitis pigmentosa with or without situs inversus","ARL2BP"]
[null,null,"Retinitis pigmentosa 55","ARL6"]
[null,null,"Retinitis pigmentosa 74","BBS2"]
[null,null,"Retinitis pigmentosa 50","BEST1"]
[null,null,"Retinitis pigmentosa 54","C2orf71"]
[null,null,"Retinitis pigmentosa 64","C8orf37"]
[null,null,"Retinitis pigmentosa 65","CDHR1"]
[null,null,"Retinitis pigmentosa 26","CERKL"]
[null,null,"Retinitis pigmentosa 61","CLRN1"]
[null,null,"Retinitis pigmentosa 49","CNGA1"]
[null,null,"Retinitis pigmentosa 45","CNGB1"]
[null,null,"Retinitis pigmentosa 12","CRB1"]
[null,null,"Retinitis pigmentosa 59","DHDDS"]
[null,null,"short stature, hearing loss, retinitis pigmentosa, and distinctive facies","EXOSC2"]
[null,null,"Retinitis pigmentosa 25","EYS"]
[null,null,"Retinitis pigmentosa 28","FAM161A"]
[null,null,"Retinitis pigmentosa_GPR125","GPR125"]
[null,null,"Retinitis pigmentosa 73","HGSNAT"]
[null,null,"Retinitis pigmentosa 46","IDH3B"]
[null,null,"Retinitis pigmentosa 80","IFT140"]
[null,null,"Retinitis pigmentosa 71","IFT172"]
[null,null,"Retinitis pigmentosa, 81","IFT43"]
[null,null,"Retinitis pigmentosa 56","IMPG2"]
[null,null,"Retinitis pigmentosa_KIAA1549","KIAA1549"]
[null,null,"Retinitis pigmentosa, juvenile_LRAT","LRAT"]
[null,null,"Retinitis pigmentosa 62","MAK"]
[null,null,"Retinitis pigmentosa 38","MERTK"]
[null,null,"Retinitis pigmentosa 67","NEK2"]
[null,null,"Retinitis pigmentosa 43","PDE6A"]
[null,null,"Retinitis pigmentosa 40","PDE6B"]
[null,null,"Retinitis pigmentosa 57","PDE6G"]
[null,null,"Retinitis pigmentosa 69","PLK1S1"]
[null,null,"Retinitis pigmentosa 76","POMGNT1"]
[null,null,"Retinitis pigmentosa 36","PRCD"]
[null,null,"Retinitis pigmentosa 41","PROM1"]
[null,null,"Retinitis pigmentosa 66","RBP3"]
[null,null,"Retinitis pigmentosa 77","REEP6"]
[null,null,"Retinitis pigmentosa 44","RGR"]
[null,null,"Retinitis pigmentosa 4, autosomal dominant or recessive","RHO"]
[null,null,"Bothnia retinal dystrophy","RLBP1"]
[null,null,"Retinitis pigmentosa 1","RP1"]
[null,null,"Occult macular dystrophy","RP1L1"]
[null,null,"Retinitis pigmentosa 20","RPE65"]
[null,null,"Retinitis pigmentosa 47","SAG"]
[null,null,"Retinitis pigmentosa 68","SLC7A14"]
[null,null,"Retinitis pigmentosa, juvenile, autosomal recessive","SPATA7"]
[null,null,"Retinitis pigmentosa 51","TTC8"]
[null,null,"Retinitis pigmentosa 14","TULP1"]
[null,null,"Retinitis pigmentosa 39","USH2A"]
[null,null,"Retinitis pigmentosa 72","ZNF408"]
[null,null,"Retinitis pigmentosa 58","ZNF513"]
["Retinitis punctata albescens","PRPH2,RDH5,RHO,RLBP1","Retinitis punctata albescens 1","PRPH2"]
[null,null,"Retinitis punctata albescens 3","RDH5"]
[null,null,"Retinitis punctata albescens 2","RHO"]
[null,null,"Retinitis punctata albescens 4","RLBP1"]
["Retinits Pigmentosa-X linked","OFD1,RP2,RPGR","Retinitis pigmentosa 23","OFD1"]
[null,null,"Retinitis pigmentosa 2","RP2"]
[null,null,"Retinitis pigmentosa 3","RPGR"]
["Retinoblastoma","RB1","Retinoblastoma","RB1"]
["Retinoschisis","RS1","Retinoschisis","RS1"]
["Rett syndrome","FOXG1,MECP2","Rett syndrome, congenital variant","FOXG1"]
[null,null,"Rett syndrome","MECP2"]
["Reynolds syndrome","LBR","Reynolds syndrome","LBR"]
["Rhabdoid Predisposition Syndrome","SMARCA4,SMARCB1","Rhabdoid tumor predisposition syndrome 2","SMARCA4"]
[null,null,"Rhabdoid Predisposition Syndrome","SMARCB1"]
["Riboflavin deficiency","SLC52A1","Riboflavin deficiency","SLC52A1"]
["Ribose 5-phosphate isomerase deficiency","RPIA","Ribose 5-phosphate isomerase deficiency","RPIA"]
["Rickets","CLCN5,CYP27B1,CYP2R1,DMP1,ENPP1,FGF23,PHEX,SLC34A3,VDR","Hypophosphatemic rickets","CLCN5"]
[null,null,"Vitamin D-dependent rickets, type I","CYP27B1"]
[null,null,"Vitamin D hydroxylation-deficient rickets, type Ib","CYP2R1"]
[null,null,"Hypophosphatemic rickets, autosomal recessive","DMP1"]
[null,null,"Hypophosphatemic rickets, autosomal recessive, 2","ENPP1"]
[null,null,"Hypophosphatemic rickets, autosomal dominant","FGF23"]
[null,null,"Hypophosphatemic rickets, X-linked dominant","PHEX"]
[null,null,"Hypophosphatemic rickets with hypercalciuria","SLC34A3"]
[null,null,"Rickets, vitamin D-resistant, type IIA","VDR"]
["RIDDLE syndrome","RNF168","RIDDLE syndrome","RNF168"]
["Rigid spine syndrome (RSMD1)","SEPN1","Rigid spine syndrome (RSMD1)","SEPN1"]
["Rigidity and multifocal seizure syndrome, lethal neonatal","BRAT1","Rigidity and multifocal seizure syndrome, lethal neonatal","BRAT1"]
["Ritscher-Schinzel syndrome","CCDC22,KIAA0196","Ritscher-Schinzel syndrome 2","CCDC22"]
[null,null,"Ritscher-Schinzel syndrome 1","KIAA0196"]
["Roberts Syndrome","ESCO2","Roberts Syndrome","ESCO2"]
["Robin sequence with cleft mandible and limb anomalies","EIF4A3","Robin sequence with cleft mandible and limb anomalies","EIF4A3"]
["Robinow syndrome","DVL1,DVL3,ROR2,WNT5A","Robinow syndrome, autosomal dominant 2","DVL1"]
[null,null,"Robinow syndrome, autosomal dominant 3","DVL3"]
[null,null,"Robinow syndrome, autosomal recessive","ROR2"]
[null,null,"Robinow syndrome, autosomal dominant 1","WNT5A"]
["Robinow-Sorauf syndrome","TWIST1","Robinow-Sorauf syndrome","TWIST1"]
["Rothmund Thompson","RECQL4","Rothmund-Thomson syndrome","RECQL4"]
["Rubinstein-Taybi syndrome","CREBBP,EP300","Rubinstein-Taybi syndrome 1","CREBBP"]
[null,null,"Rubinstein-Taybi syndrome 2","EP300"]
["Ruijs-Aalfs syndrome","SPRTN","Ruijs-Aalfs syndrome","SPRTN"]
["Saethre-Chotzen syndrome","TWIST1","Saethre-Chotzen syndrome","TWIST1"]
["Sandhoff disease","HEXB","Sandhoff disease","HEXB"]
["SBBYSS syndrome / GENITOPATELLAR SYNDROME","KAT6B","SBBYSS syndrome / GENITOPATELLAR SYNDROME","KAT6B"]
["Scalp-ear-nipple syndrome","KCTD1","Scalp-ear-nipple syndrome","KCTD1"]
["Scapuloperoneal myopathy","FHL1,MYH7","Scapuloperoneal myopathy, X-linked dominant","FHL1"]
[null,null,"Scapuloperoneal syndrome, myopathic type","MYH7"]
["Schaaf-Yang syndrome","MAGEL2","Schaaf-Yang syndrome","MAGEL2"]
["Schindler disease, type I, type II","NAGA","Schindler disease, type I, type II","NAGA"]
["Schinzel-Giedion midface retraction syndrome","SETBP1","Schinzel-Giedion midface retraction syndrome","SETBP1"]
["Schneckenbecken dysplasia","SLC35D1","Schneckenbecken dysplasia","SLC35D1"]
["Schopf-Schulz-Passarge syndrome","WNT10A","Schopf-Schulz-Passarge syndrome","WNT10A"]
["Schwachman Diamond syndrome","DNAJC21,SBDS","Schwachman Diamond syndrome 2","DNAJC21"]
[null,null,"Schwachman Diamond syndrome 1","SBDS"]
["Schwartz-Jampel syndrome","HSPG2,LIFR","Schwartz-Jampel syndrome, type 1","HSPG2"]
[null,null,"Schwartz-Jampel syndrome, type 2","LIFR"]
["Scott syndrome","ANO6","Scott syndrome","ANO6"]
["Seborrhea-like dermatitis with psoriasiform elements","ZNF750","Seborrhea-like dermatitis with psoriasiform elements","ZNF750"]
["Seckel syndrome","ATR,CENPJ,CEP152,CEP63,DNA2,NIN,NSMCE2,RBBP8,TRAIP","Seckel syndrome 1","ATR"]
[null,null,"Seckel syndrome 4","CENPJ"]
[null,null,"Seckel syndrome 5","CEP152"]
[null,null,"Seckel syndrome 6","CEP63"]
[null,null,"Seckel syndrome 8","DNA2"]
[null,null,"Seckel syndrome 7","NIN"]
[null,null,"Seckel syndrome 10","NSMCE2"]
[null,null,"Seckel syndrome 2","RBBP8"]
[null,null,"Seckel syndrome 9","TRAIP"]
["Sedoheptulokinase deficiency","SHPK","Sedoheptulokinase deficiency","SHPK"]
["Seizures, benign familial infantile","PRRT2,SCN2A,SCN8A","Seizures, benign familial infantile, 2","PRRT2"]
[null,null,"Seizures, benign familial infantile, 3","SCN2A"]
[null,null,"Seizures, benign familial infantile, 5","SCN8A"]
["Seizures, benign neonatal","KCNQ2,KCNQ3","Seizures, benign neonatal, 1","KCNQ2"]
[null,null,"Seizures, benign neonatal, type 2","KCNQ3"]
["Senior Loken Syndrome","CEP290,IQCB1,NPHP1,NPHP4,SDCCAG8,TRAF3IP1,WDR19","Senior Loken Syndrome-6","CEP290"]
[null,null,"Senior Loken Syndrome-5","IQCB1"]
[null,null,"Senior Loken Syndrome-1","NPHP1"]
[null,null,"Senior Loken Syndrome-4","NPHP4"]
[null,null,"Senior Loken Syndrome-7","SDCCAG8"]
[null,null,"Senior-Loken syndrome 9","TRAF3IP1"]
[null,null,"Senior-Loken syndrome 8","WDR19"]
["Septooptic dysplasia","HESX1","Septooptic dysplasia","HESX1"]
["Severe combined immunodeficiency","ADA,AK2,CD247,CD3D,CD3E,DCLRE1C,IL2,IL2RG,IL7R,JAK3,LIG4,NHEJ1,PNP,PTPRC,RAC2,RAG1,RAG2,ZAP70","Severe combined immunodeficiency due to ADA deficiency","ADA"]
[null,null,"Reticular dysgenesis","AK2"]
[null,null,"Immunodeficiency 25","CD247"]
[null,null,"Immunodeficiency 19","CD3D"]
[null,null,"Immunodeficiency 18","CD3E"]
[null,null,"Severe combined immunodeficiency, Athabascan type","DCLRE1C"]
[null,null,"Severe combined immunodeficiency due to IL2 deficiency","IL2"]
[null,null,"Severe combined immunodeficiency, X-linked","IL2RG"]
[null,null,"Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type","IL7R"]
[null,null,"SCID, autosomal recessive, T-negative/B-positive type","JAK3"]
[null,null,"LIG4 syndrome","LIG4"]
[null,null,"Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation","NHEJ1"]
[null,null,"Immunodeficiency due to purine nucleoside phosphorylase deficiency","PNP"]
[null,null,"Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive","PTPRC"]
[null,null,"Neutrophil immunodeficiency syndrome","RAC2"]
[null,null,"Severe combined immunodeficiency, B cell-negative 1","RAG1"]
[null,null,"Severe combined immunodeficiency, B cell-negative 2","RAG2"]
[null,null,"Immunodeficiency 48","ZAP70"]
["Shashi-Pena syndrome","ASXL2","Shashi-Pena syndrome","ASXL2"]
["Short QT syndrome","KCNH2,KCNJ2,KCNQ1,SLC4A3","Short QT syndrome-1","KCNH2"]
[null,null,"Short QT syndrome-3","KCNJ2"]
[null,null,"Short QT syndrome-2","KCNQ1"]
[null,null,"Short QT syndrome_SLC4A3","SLC4A3"]
["Short stature","ACAN,GHSR,SHOX","Short stature, idiopathic familial_ACAN","ACAN"]
[null,null,"Short stature","GHSR"]
[null,null,"Short stature, idiopathic familial","SHOX"]
["Short stature with microcephaly and distinctive facies","CRIPT","Short stature with microcephaly and distinctive facies","CRIPT"]
["Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities","GSC","Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities","GSC"]
["Short stature, brachydactyly, intellectual developmental disability, and seizures","PRMT7","Short stature, brachydactyly, intellectual developmental disability, and seizures","PRMT7"]
["Short stature, developmental delay, and congenital heart defects","TKT","Short stature, developmental delay, and congenital heart defects","TKT"]
["Short stature, microcephaly, and endocrine dysfunction","XRCC4","Short stature, microcephaly, and endocrine dysfunction","XRCC4"]
["Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis","POC1A","Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis","POC1A"]
["Short stature, optic nerve atrophy, and Pelger-Huet anomaly","NBAS","Short stature, optic nerve atrophy, and Pelger-Huet anomaly","NBAS"]
["SHORT syndrome","PIK3R1","SHORT syndrome","PIK3R1"]
["Short-rib thoracic dysplasia","CEP120,DYNC2H1,DYNC2LI1,EVC,EVC2,GLI1,IFT140,IFT172,IFT43,IFT52,IFT80,INTU,KIAA0586,NEK1,TTC21B,WDR19,WDR34,WDR35,WDR60"," Short-rib thoracic dysplasia 13 with or without polydactyly","CEP120"]
[null,null,"Short rib-polydactyly syndrome, type 3","DYNC2H1"]
[null,null,"Short-rib throacic dysplasia 15 with polydactyly","DYNC2LI1"]
[null,null,"Ellis-van Creveld syndrome","EVC"]
[null,null,"Ellis-van Creveld syndrome_EVC2","EVC2"]
[null,null,"Ellis-van Creveld syndrome_GLI1","GLI1"]
[null,null,"Short-rib thoracic dysplasia 9 with or without polydactyly","IFT140"]
[null,null,"Short-rib thoracic dysplasia 10 with or without polydactyly","IFT172"]
[null,null,"Short-rib thoracic dysplasia 17 with or without polydactyly","IFT43"]
[null,null,"Short-rib thoracic dysplasia 16 with or without polydactyly","IFT52"]
[null,null,"Short-rib thoracic dysplasia 2 with or without polydactyly","IFT80"]
[null,null,"Short-rib throacic dysplasia 20 with polydactyly","INTU"]
[null,null,"Short-rib thoracic dysplasia 14 with polydactyly","KIAA0586"]
[null,null,"Short rib-polydactyly syndrome, type 2A","NEK1"]
[null,null,"Short-rib thoracic dysplasia 4 with or without polydactyly","TTC21B"]
[null,null,"Short rib-polydactyly syndrome, type 5","WDR19"]
[null,null,"Short-rib thoracic dysplasia 11 with or without polydactyly","WDR34"]
[null,null,"Short-rib thoracic dysplasia 7 with or without polydactyly","WDR35"]
[null,null,"Short-rib thoracic dysplasia 8 with or without polydactyly","WDR60"]
["Shprintzen-Goldberg syndrome","SKI","Shprintzen-Goldberg syndrome","SKI"]
["Sialic acid storage disorder, infantile","SLC17A5","Sialic acid storage disorder, infantile","SLC17A5"]
["Sialidosis","NEU1","Sialidosis","NEU1"]
["Sick sinus syndrome","HCN4,MYH6,SCN5A","Sick sinus syndrome 2","HCN4"]
[null,null,"Sick sinus syndrome 3","MYH6"]
[null,null,"Sick sinus syndrome 1","SCN5A"]
["Sideroblastic anemia","ABCB7,ALAS2,GLRX5,HSPA9,PUS1,SLC25A38,TRNT1,YARS2","Anemia, sideroblastic, with ataxia","ABCB7"]
[null,null,"Hereditary sideroblastic anemia","ALAS2"]
[null,null,"Anemia, sideroblastic 3, pyridoxine-refractory, autosomal recessive","GLRX5"]
[null,null,"Anemia, sideroblastic, 4","HSPA9"]
[null,null,"Myopathy, lactic acidosis, and sideroblastic anemia 1, Mitochondrial myopathy","PUS1"]
[null,null,"Anemia, sideroblastic, 2, pyridoxine-refractory, autosomal recessive","SLC25A38"]
[null,null,"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay","TRNT1"]
[null,null,"Myopathy, lactic acidosis, and sideroblastic anemia 2","YARS2"]
["Sifrim-Hitz-Weiss syndrome","CHD4","Sifrim-Hitz-Weiss syndrome","CHD4"]
["Simpson-Golabi-Behmel syndrome","GPC3,OFD1","Simpson-Golabi-Behmel syndrome, type 1","GPC3"]
[null,null,"Simpson-Golabi-Behmel syndrome, type 2","OFD1"]
["Singleton-Merten syndrome","DDX58,IFIH1","Singleton-Merten syndrome 2","DDX58"]
[null,null,"Singleton-Merten syndrome 1","IFIH1"]
["Sinoatrial node dysfunction","CACNA1D","Sinoatrial node dysfunction and deafness","CACNA1D"]
["Sjögren-Larsson syndrome","ALDH3A2","Sjögren-Larsson syndrome","ALDH3A2"]
["Skeletal defects, genital hypoplasia, and mental retardation","ZBTB16","Skeletal defects, genital hypoplasia, and mental retardation","ZBTB16"]
["Skin Fragility, Epidermolysis bullosa simplex, generalized, with scarring and hair loss","KLHL24","Skin Fragility, Epidermolysis bullosa simplex, generalized, with scarring and hair loss","KLHL24"]
["Small patella syndrome","TBX4","Ischiocoxopodopatellar syndrome","TBX4"]
["Smith Lemli Opitz syndrome","DHCR7","Smith Lemli Opitz syndrome","DHCR7"]
["Smith Magenis syndrome","RAI1","Smith Magenis syndrome","RAI1"]
["Smith-Kingsmore syndrome","MTOR","Smith-Kingsmore syndrome","MTOR"]
["Smith-McCort dysplasia","DYM,RAB33B","Smith-McCort dysplasia 1","DYM"]
[null,null,"Smith-McCort dysplasia 2","RAB33B"]
["Sotos Syndrome","APC2,NFIX,NSD1","Sotos syndrome 3","APC2"]
[null,null,"Sotos syndrome 2","NFIX"]
[null,null,"Sotos syndrome 1","NSD1"]
["Spastic ataxia","AFG3L2,KIF1C,MARS2,MTPAP,SACS,TUBB2A,VAMP1","Spastic ataxia 5, autosomal recessive","AFG3L2"]
[null,null,"Spastic ataxia 2, autosomal recessive","KIF1C"]
[null,null,"Spastic ataxia 3, autosomal recessive","MARS2"]
[null,null,"Spastic ataxia 4","MTPAP"]
[null,null,"Spastic ataxia 6, autosomal recessive","SACS"]
[null,null,"Spastic ataxia_TUBB2A","TUBB2A"]
[null,null,"Spastic ataxia 1, autosomal dominant","VAMP1"]
["Spastic paraplegia complete","ADAR,ALDH18A1,AMPD2,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,ARL6IP1,ARSI,ATL1,ATP13A2,B4GALNT1,BICD2,BSCL2,C12orf65,C19orf12,CAPN1,CCT5,CPT1C,CYP2U1,CYP7B1,DDHD1,DDHD2,DSTYK,ENTPD1,EPT1,ERLIN1,ERLIN2,FA2H,FARS2,FLRT1,GBA2,GJC2,HACE1,HSPD1,IBA57,IFIH1,KCNA2,KIAA0196,KIDINS220,KIF1A,KIF1C,KIF5A,L1CAM,LYST,MAG,MARS,NIPA1,NT5C2,PLP1,PNPLA6,RAB3GAP2,REEP1,REEP2,RNASEH2B,RTN2,SERAC1,SLC16A2,SLC33A1,SPAST,SPG11,SPG20,SPG21,SPG7,TECPR2,TFG,TUBB2A,UCHL1,USP8,VPS37A,WDR48,ZFR,ZFYVE26,ZFYVE27","Aicardi-goutieres syndrome 6","ADAR"]
[null,null,"Spastic paraplegia 9A, autosomal dominant","ALDH18A1"]
[null,null,"Spastic paraplegia 63, autosomal recessive","AMPD2"]
[null,null,"Spastic paraplegia 47","AP4B1"]
[null,null,"Spastic paraplegia 51","AP4E1"]
[null,null,"Spastic paraplegia 50","AP4M1"]
[null,null,"Spastic paraplegia 52","AP4S1"]
[null,null,"Spastic paraplegia 48","AP5Z1"]
[null,null,"Spastic paraplegia 61, autosomal recessive","ARL6IP1"]
[null,null,"Spastic paraplegia 66, autosomal recessive","ARSI"]
[null,null,"Spastic paraplegia 3A","ATL1"]
[null,null,"Spastic paraplegia 78, autosomal recessive","ATP13A2"]
[null,null,"Spastic paraplegia 26, autosomal recessive","B4GALNT1"]
[null,null,"Spastic paraplegia_BICD2","BICD2"]
[null,null,"Spastic paraplegia 17","BSCL2"]
[null,null,"Spastic paraplegia 55, autosomal recessive","C12orf65"]
[null,null,"Spastic paraplegia 43, autosomal recessive","C19orf12"]
[null,null,"Spastic paraplegia 76","CAPN1"]
[null,null,"Neuropathy, hereditary sensory, with spastic paraplegia","CCT5"]
[null,null,"Spastic paraplegia 73, autosomal dominant","CPT1C"]
[null,null,"Spastic paraplegia 56, autosomal recessive","CYP2U1"]
[null,null,"Spastic paraplegia 5A","CYP7B1"]
[null,null,"Spastic paraplegia 28, autosomal recessive","DDHD1"]
[null,null,"Spastic paraplegia 54, autosomal recessive","DDHD2"]
[null,null,"Spastic paraplegia 23","DSTYK"]
[null,null,"Spastic paraplegia 64","ENTPD1"]
[null,null,"Spastic paraplegia due to Kennedy pathway phospholipid biosynthesis.","EPT1"]
[null,null,"Spastic paraplegia 62, autosomal recessive","ERLIN1"]
[null,null,"Spastic paraplegia 18","ERLIN2"]
[null,null,"Spastic paraplegia 35","FA2H"]
[null,null,"Spastic paraplegia 77","FARS2"]
[null,null,"Spastic paraplegia 68, autosomal recessive","FLRT1"]
[null,null,"Spastic paraplegia 46, autosomal recessive","GBA2"]
[null,null,"Spastic paraplegia 44","GJC2"]
[null,null,"Spastic paraplegia and psychomotor retardation with or without seizures","HACE1"]
[null,null,"Spastic paraplegia 13","HSPD1"]
[null,null,"Spastic paraplegia 74, autosomal recessive","IBA57"]
[null,null,"Aicardi-Goutieres syndrome 7","IFIH1"]
[null,null,"Spastic paraplegia_KCNA2","KCNA2"]
[null,null,"Spastic paraplegia 8","KIAA0196"]
[null,null,"Spastic paraplegia, intellectual disability, nystagmus, and obesity","KIDINS220"]
[null,null,"Spastic paraplegia 30","KIF1A"]
[null,null,"Spastic paraplegia 58, autosomal recessive","KIF1C"]
[null,null,"Spastic paraplegia 10,","KIF5A"]
[null,null,"Spastic paraplegia 1","L1CAM"]
[null,null,"Spastic paraplegia_LYST","LYST"]
[null,null,"Spastic paraplegia 75, autosomal recessive","MAG"]
[null,null,"Spastic paraplegia 70","MARS"]
[null,null,"Spastic paraplegia 6,","NIPA1"]
[null,null,"Spastic paraplegia 45","NT5C2"]
[null,null,"Spastic paraplegia 2","PLP1"]
[null,null,"Spastic paraplegia 39","PNPLA6"]
[null,null,"Spastic paraplegia 69","RAB3GAP2"]
[null,null,"Spastic paraplegia 31","REEP1"]
[null,null,"Spastic paraplegia 72, autosomal recessive, recessve","REEP2"]
[null,null,"Aicardi-Goutieres syndrome 2","RNASEH2B"]
[null,null,"Spastic paraplegia 12","RTN2"]
[null,null,"Spastic paraplegia_SERAC1","SERAC1"]
[null,null,"Spastic paraplegia 22","SLC16A2"]
[null,null,"Spastic paraplegia 42","SLC33A1"]
[null,null,"Spastic paraplegia 4","SPAST"]
[null,null,"Spastic paraplegia 11","SPG11"]
[null,null,"Spastic paraplegia 20","SPG20"]
[null,null,"Spastic paraplegia 21","SPG21"]
[null,null,"Spastic paraplegia 7","SPG7"]
[null,null," Spastic paraplegia 49","TECPR2"]
[null,null,"Spastic paraplegia 57, autosomal recessive","TFG"]
[null,null,"Spastic ataxia_TUBB2A","TUBB2A"]
[null,null,"Spastic paraplegia 79, autosomal recessive","UCHL1"]
[null,null,"Spastic paraplegia 59, autosomal recessive","USP8"]
[null,null,"Spastic paraplegia 53","VPS37A"]
[null,null,"Spastic paraplegia 60, autosomal recessive","WDR48"]
[null,null,"Spastic paraplegia 71","ZFR"]
[null,null,"Spastic paraplegia 15","ZFYVE26"]
[null,null,"Spastic paraplegia 33","ZFYVE27"]
["Spastic paraplegia, Dominant","ALDH18A1,ATL1,BICD2,BSCL2,CPT1C,HSPD1,KIAA0196,KIF1A,KIF5A,NIPA1,REEP1,RTN2,SLC33A1,SPAST,TUBB2A,ZFYVE27","Spastic paraplegia 9A, autosomal dominant","ALDH18A1"]
[null,null,"Spastic paraplegia 3A","ATL1"]
[null,null,"Spastic paraplegia_BICD2","BICD2"]
[null,null,"Spastic paraplegia 17","BSCL2"]
[null,null,"Spastic paraplegia 73, autosomal dominant","CPT1C"]
[null,null,"Spastic paraplegia 13","HSPD1"]
[null,null,"Spastic paraplegia 8","KIAA0196"]
[null,null,"Spastic paraplegia 30","KIF1A"]
[null,null,"Spastic paraplegia 10,","KIF5A"]
[null,null,"Spastic paraplegia 6,","NIPA1"]
[null,null,"Spastic paraplegia 31","REEP1"]
[null,null,"Spastic paraplegia 12","RTN2"]
[null,null,"Spastic paraplegia 42","SLC33A1"]
[null,null,"Spastic paraplegia 4","SPAST"]
[null,null,"Spastic ataxia_TUBB2A","TUBB2A"]
[null,null,"Spastic paraplegia 33","ZFYVE27"]
["Spastic paraplegia, recessive","ADAR,ALDH18A1,AMPD2,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,ARL6IP1,ARSI,ATP13A2,B4GALNT1,BICD2,C12orf65,C19orf12,CAPN1,CCT5,CYP2U1,CYP7B1,DDHD1,DDHD2,DSTYK,ENTPD1,EPT1,ERLIN1,ERLIN2,FA2H,FARS2,FLRT1,GBA2,GJC2,HACE1,IBA57,IFIH1,KCNA2,KIDINS220,KIF1C,LYST,MAG,MARS,NT5C2,PNPLA6,RAB3GAP2,REEP2,RNASEH2B,SERAC1,SPG11,SPG20,SPG21,SPG7,TECPR2,TFG,UCHL1,USP8,VPS37A,WDR48,ZFR,ZFYVE26","Aicardi-goutieres syndrome 6","ADAR"]
[null,null,"Spastic paraplegia 9B, autosomal recessive","ALDH18A1"]
[null,null,"Spastic paraplegia 63, autosomal recessive","AMPD2"]
[null,null,"Spastic paraplegia 47","AP4B1"]
[null,null,"Spastic paraplegia 51","AP4E1"]
[null,null,"Spastic paraplegia 50","AP4M1"]
[null,null,"Spastic paraplegia 52","AP4S1"]
[null,null,"Spastic paraplegia 48","AP5Z1"]
[null,null,"Spastic paraplegia 61, autosomal recessive","ARL6IP1"]
[null,null,"Spastic paraplegia 66, autosomal recessive","ARSI"]
[null,null,"Spastic paraplegia 78, autosomal recessive","ATP13A2"]
[null,null,"Spastic paraplegia 26, autosomal recessive","B4GALNT1"]
[null,null,"Spinal muscular atrophy, lower extremity-predominant, 2, AD","BICD2"]
[null,null,"Spastic paraplegia 55, autosomal recessive","C12orf65"]
[null,null,"Spastic paraplegia 43, autosomal recessive","C19orf12"]
[null,null,"Spastic paraplegia 76","CAPN1"]
[null,null,"Neuropathy, hereditary sensory, with spastic paraplegia","CCT5"]
[null,null,"Spastic paraplegia 56, autosomal recessive","CYP2U1"]
[null,null,"Spastic paraplegia 5A","CYP7B1"]
[null,null,"Spastic paraplegia 28, autosomal recessive","DDHD1"]
[null,null,"Spastic paraplegia 54, autosomal recessive","DDHD2"]
[null,null,"Spastic paraplegia 23","DSTYK"]
[null,null,"Spastic paraplegia 64","ENTPD1"]
[null,null,"Spastic paraplegia due to Kennedy pathway phospholipid biosynthesis.","EPT1"]
[null,null,"Spastic paraplegia 62, autosomal recessive","ERLIN1"]
[null,null,"Spastic paraplegia 18","ERLIN2"]
[null,null,"Spastic paraplegia 35","FA2H"]
[null,null,"Spastic paraplegia 77","FARS2"]
[null,null,"Spastic paraplegia 68, autosomal recessive","FLRT1"]
[null,null,"Spastic paraplegia 46, autosomal recessive","GBA2"]
[null,null,"Spastic paraplegia 44","GJC2"]
[null,null,"Spastic paraplegia and psychomotor retardation with or without seizures","HACE1"]
[null,null,"Spastic paraplegia 74, autosomal recessive","IBA57"]
[null,null,"Aicardi-Goutieres syndrome 7","IFIH1"]
[null,null,"spastic paraplegia_KCNA2","KCNA2"]
[null,null,"Spastic paraplegia, intellectual disability, nystagmus, and obesity","KIDINS220"]
[null,null,"Spastic paraplegia 58, autosomal recessive","KIF1C"]
[null,null,"Spastic paraplegia_LYST","LYST"]
[null,null,"Spastic paraplegia 75, autosomal recessive","MAG"]
[null,null,"Spastic paraplegia 70","MARS"]
[null,null,"Spastic paraplegia 45","NT5C2"]
[null,null,"Spastic paraplegia 39","PNPLA6"]
[null,null,"Spastic paraplegia 69","RAB3GAP2"]
[null,null,"Spastic paraplegia 72, autosomal recessive, recessve","REEP2"]
[null,null,"Aicardi-Goutieres syndrome 2","RNASEH2B"]
[null,null,"Spastic paraplegia_SERAC1","SERAC1"]
[null,null,"Spastic paraplegia 11","SPG11"]
[null,null,"Spastic paraplegia 20","SPG20"]
[null,null,"Spastic paraplegia 21","SPG21"]
[null,null,"Spastic paraplegia 7","SPG7"]
[null,null,"Spastic paraplegia 49","TECPR2"]
[null,null,"Spastic paraplegia 57, autosomal recessive","TFG"]
[null,null,"Spastic paraplegia 79, autosomal recessive","UCHL1"]
[null,null,"Spastic paraplegia 59, autosomal recessive","USP8"]
[null,null,"Spastic paraplegia 53","VPS37A"]
[null,null,"Spastic paraplegia 60, autosomal recessive","WDR48"]
[null,null,"Spastic paraplegia 71","ZFR"]
[null,null,"Spastic paraplegia 15","ZFYVE26"]
["Spastic paraplegia, X-linked","ABCD1,ATP6AP2,L1CAM,PLP1,SLC16A2","Adrenomyeloneuropathy, adult","ABCD1"]
[null,null,"Parkinsonism with spasticity, X-linked","ATP6AP2"]
[null,null,"Spastic paraplegia 1","L1CAM"]
[null,null,"Spastic paraplegia 2","PLP1"]
[null,null,"Spastic paraplegia 22","SLC16A2"]
["Specific granule deficiency","CEBPE","Specific granule deficiency","CEBPE"]
["Speech language disorder","FOXP2","Speech-language disorder-1","FOXP2"]
["Spermatogenic failure","AK7,AURKC,CATSPER1,DMC1,DNAH1,DPY19L2,GTF2H3,KLHL10,NANOS1,NR5A1,PLCZ1,SEPT12,SLC26A8,SOHLH1,SOX8,SPATA16,SUN5,SYCP3,TAF4B,TEX14,USP9Y,ZMYND15","Spermatogenic failure 27","AK7"]
[null,null,"Spermatogenic failure 5","AURKC"]
[null,null,"Spermatogenic failure 7","CATSPER1"]
[null,null,"Spermatogenic failure_DMC1","DMC1"]
[null,null,"spermatogenic failure 18 ","DNAH1"]
[null,null,"Spermatogenic failure 9","DPY19L2"]
[null,null,"Spermatogenic failure_GTF2H3","GTF2H3"]
[null,null,"Spermatogenic failure 11","KLHL10"]
[null,null,"Spermatogenic failure 12","NANOS1"]
[null,null,"Spermatogenic failure 8","NR5A1"]
[null,null,"Spermatogenic failure 17","PLCZ1"]
[null,null,"Spermatogenic failure 10","SEPT12"]
[null,null,"Spermatogenic failure 3","SLC26A8"]
[null,null,"Spermatogenic failure 32","SOHLH1"]
[null,null,"Spermatogenic failure_SOX8","SOX8"]
[null,null,"Spermatogenic failure 6","SPATA16"]
[null,null,"Spermatogenic failure 16","SUN5"]
[null,null,"Spermatogenic failure 4","SYCP3"]
[null,null,"Spermatogenic failure 13","TAF4B"]
[null,null,"Spermatogenic failure 23","TEX14"]
[null,null,"Spermatogenic failure, Y-linked, 2","USP9Y"]
[null,null,"Spermatogenic failure 14","ZMYND15"]
["Spinal muscular atrophy with congenital bone fractures","ASCC1,TRIP4","Spinal muscular atrophy with congenital bone fractures 2","ASCC1"]
[null,null,"Spinal muscular atrophy with congenital bone fractures 1","TRIP4"]
["Spinal muscular atrophy, distal","CHCHD10,DNAJB2,IGHMBP2,PLEKHG5,SIGMAR1","Spinal muscular atrophy, Jokela type","CHCHD10"]
[null,null,"Spinal muscular atrophy, distal, autosomal recessive, 5","DNAJB2"]
[null,null,"Spinal muscular atrophy, distal, autosomal recessive, 1","IGHMBP2"]
[null,null,"Spinal muscular atrophy, distal, autosomal recessive, 4","PLEKHG5"]
[null,null,"Spinal muscular atrophy, distal, autosomal recessive, 2","SIGMAR1"]
["Spinal muscular atrophy, dominant, proximal","BICD2,DYNC1H1,TFG,TRPV4,VAPB","Spinal muscular atrophy, dominant, proximal 2","BICD2"]
[null,null,"Spinal muscular atrophy, dominant, proximal 1","DYNC1H1"]
[null,null,"Hereditary motor and sensory neuropathy, Okinawa type","TFG"]
[null,null,"Spinal muscular atrophy, distal, congenital nonprogressive","TRPV4"]
[null,null,"Spinal muscular atrophy, late-onset, Finkel type","VAPB"]
["Spinal muscular atrophy, recessive, proximal","ASAH1,DGUOK,EXOSC3,SCO2,TK2,VRK1","Proximal SMA with myoclonic epilepsy","ASAH1"]
[null,null,"Spinal muscular atrophy, recessive, proximal_DGUOK","DGUOK"]
[null,null,"SMA + cerebellar hypoplasia_EXOSC3","EXOSC3"]
[null,null,"Spinal muscular atrophy, recessive, proximal_SCO2","SCO2"]
[null,null,"Spinal muscular atrophy, recessive, proximal_TK2","TK2"]
[null,null,"SMA + cerebellar hypoplasia_VRK1","VRK1"]
["Split brain syndrome","DCC","Split brain syndrome","DCC"]
["Split hand/foot malformation","DLX5,SHFM1,TP63,WNT10B","Split-hand/foot malformation 1 with sensorineural hearing loss","DLX5"]
[null,null,"Split hand/foot malformation 1","SHFM1"]
[null,null,"Split-hand/foot malformation 4","TP63"]
[null,null,"Split-hand/foot malformation 6","WNT10B"]
["Spondylo-megaepiphyseal-metaphyseal dysplasia","NKX3-2","Spondylo-megaepiphyseal-metaphyseal dysplasia","NKX3-2"]
["Spondylocarpotarsal synostosis syndrome","SCT","Spondylocarpotarsal synostosis syndrome","SCT"]
["Spondylocostal dysostosis","DLL3,HES7,LFNG,MESP2,RIPPLY2,TBX6","Spondylocostal dysostosis 1, autosomal recessive","DLL3"]
[null,null,"Spondylocostal dysostosis 4, autosomal recessive","HES7"]
[null,null,"Spondylocostal dysostosis 3, autosomal recessive","LFNG"]
[null,null,"Spondylocostal dysostosis 2, autosomal recessive","MESP2"]
[null,null,"Spondylocostal dysostosis 6","RIPPLY2"]
[null,null,"Spondylocostal dysostosis 5","TBX6"]
["Spondyloenchondrodysplasia","ACP5","Spondyloenchondrodysplasia with immune dysregulation","ACP5"]
["Spondyloepimetaphyseal dysplasia","ACAN,B3GALT6,BGN,CHST3,DDR2,GPX4,KIF22,MATN3,MMP13,PAM16,RSPRY1,TRAPPC2,WISP3","Spondyloepimetaphyseal dysplasia","ACAN"]
[null,null,"Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures","B3GALT6"]
[null,null,"Spondyloepimetaphyseal dysplasia, X-linked","BGN"]
[null,null,"Spondyloepimetaphyseal dysplasia with congenital joint dislocations","CHST3"]
[null,null,"Spondylometaepiphyseal dysplasia short limb-hand type","DDR2"]
[null,null,"Spondylometaphyseal dysplasia, Sedaghatian type","GPX4"]
[null,null,"Spondyloepimetaphyseal dysplasia with joint laxity, type 2","KIF22"]
[null,null,"Spondyloepimetaphyseal dysplasia_MATN3","MATN3"]
[null,null,"Spondyloepimetaphyseal dysplasia, Missouri type","MMP13"]
[null,null,"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type","PAM16"]
[null,null,"Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type","RSPRY1"]
[null,null,"Spondyloepimetaphyseal dysplasia tarda","TRAPPC2"]
[null,null,"Spondyloepimetaphyseal dysplasia tarda with progressive arthropathy","WISP3"]
["Spondylometaphyseal Dysplasia","FN1,GPX4,PAM16,PCYT1A","Spondylometaphyseal Dysplasia with Corner Fractures","FN1"]
[null,null,"Spondylometaphyseal dysplasia, Sedaghatian type","GPX4"]
[null,null,"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type","PAM16"]
[null,null,"Spondylometaphyseal dysplasia with cone-rod dystrophy","PCYT1A"]
["Stankiewicz-Isidor syndrome","PSMD12","Stankiewicz-Isidor syndrome","PSMD12"]
["STAR syndrome","FAM58A","STAR syndrome","FAM58A"]
["Stargardt disease","ABCA4,ELOVL4","Stargardt disease 1","ABCA4"]
[null,null,"Stargardt disease 3","ELOVL4"]
["Steel syndrome","COL27A1","Steel syndrome","COL27A1"]
["Stickler syndrome","COL11A1,COL11A2,COL2A1,COL9A1,COL9A2,COL9A3","Stickler syndrome, type II","COL11A1"]
[null,null,"Stickler syndrome, type III","COL11A2"]
[null,null,"Stickler syndrome, type I","COL2A1"]
[null,null,"Stickler syndrome, type IV","COL9A1"]
[null,null,"Stickler syndrome, type V","COL9A2"]
[null,null,"Stickler syndrome, type VI","COL9A3"]
["Striatal degeneration, autosomal dominant","PDE10A,PDE8B","Striatal degeneration, autosomal dominant 2","PDE10A"]
[null,null,"Striatal degeneration, autosomal dominant 1","PDE8B"]
["Striatonigral degeneration, infantile","NUP62,VAC14","Striatonigral degeneration, infantile","NUP62"]
[null,null,"Striatonigral degeneration, childhood-onset","VAC14"]
["Stroke","ACTA2,CECR1,GUCY1A3,HTRA1,NOTCH3","Moyamoya disease 5","ACTA2"]
[null,null,"Polyarteritis nodosa, childhood-onset","CECR1"]
[null,null,"Moyamoya 6 with achalasia","GUCY1A3"]
[null,null,"Carasil","HTRA1"]
[null,null,"Cadasil","NOTCH3"]
["Succinic semialdehyde dehydrogenase deficiency","ALDH5A1","Succinic semialdehyde dehydrogenase deficiency","ALDH5A1"]
["Succinyl CoA:3-oxoacid CoA transferase deficiency","OXCT1","Succinyl CoA:3-oxoacid CoA transferase deficiency","OXCT1"]
["Sucrase-isomaltase deficiency, congenital","SI","Sucrase-isomaltase deficiency, congenital","SI"]
["Sudden infant death with dysgenesis of the testes syndrome","TSPYL1","Sudden infant death with dysgenesis of the testes syndrome","TSPYL1"]
["Sulfite oxidase deficiency","SUOX","Sulfite oxidase deficiency","SUOX"]
["Surfactant metabolism dysfunction, pulmonary","ABCA3,CSF2RA,CSF2RB,SFTPB,SFTPC,SFTPD","Surfactant metabolism dysfunction, pulmonary, 3","ABCA3"]
[null,null,"Surfactant metabolism dysfunction, pulmonary, 4","CSF2RA"]
[null,null,"Surfactant metabolism dysfunction, pulmonary, 5","CSF2RB"]
[null,null,"Surfactant metabolism dysfunction, pulmonary, 1","SFTPB"]
[null,null,"Surfactant metabolism dysfunction, pulmonary, 2","SFTPC"]
[null,null,"Surfactant metabolism dysfunction, pulmonary, ","SFTPD"]
["Symmetric circumferential skin creases, congenital","MAPRE2,TUBB","Symmetric circumferential skin creases, congenital, 2","MAPRE2"]
[null,null,"Symmetric circumferential skin creases, congenital, 1","TUBB"]
["Syndromic intellectual disability with histone defect","BRPF1","Syndromic intellectual disability with histone defect","BRPF1"]
["Synpolydactyly","FBLN1,HOXD13","Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses","FBLN1"]
[null,null,"Synpolydactyly","HOXD13"]
["T-cell immunodeficiency","FOXN1,STK4","T-cell immunodeficiency, congenital alopecia, and nail dystrophy","FOXN1"]
[null,null,"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations","STK4"]
["T-cell immunodeficiency, congenital alopecia, and nail dystrophy","FOXN1","T-cell immunodeficiency, congenital alopecia, and nail dystrophy","FOXN1"]
["T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations","STK4","T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations","STK4"]
["Tangier disease","ABCA1","Tangier disease","ABCA1"]
["TARP syndrome","RBM10","TARP syndrome","RBM10"]
["Tatton-Brown-Rahman syndrome","DNMT3A","Tatton-Brown-Rahman syndrome","DNMT3A"]
["Tay Sachs","HEXA","Tay Sachs","HEXA"]
["Temple-Baraitser syndrome","KCNH1","Temple-Baraitser syndrome","KCNH1"]
["Temtamy preaxial brachydactyly syndrome","CHSY1","Temtamy preaxial brachydactyly syndrome","CHSY1"]
["Tenorio syndrome","RNF125","Tenorio syndrome","RNF125"]
["Tetra-amelia, autosomal recessive","WNT3","Tetra-amelia, autosomal recessive","WNT3"]
["Tetralogy of Fallot","GATA4,GATA6,GDF1,JAG1,NKX2-5,TBX1,ZFPM2","Tetralogy of Fallot 2","GATA4"]
[null,null,"Tetralogy of Fallot 3","GATA6"]
[null,null,"Tetralogy of Fallot 1","GDF1"]
[null,null,"Tetralogy of Fallot 4","JAG1"]
[null,null,"Tetralogy of Fallot 5","NKX2-5"]
[null,null,"Tetralogy of Fallot 6","TBX1"]
[null,null,"Tetralogy of Fallot 7","ZFPM2"]
["Thanatophoric dysplasia","FGFR3","Thanatophoric dysplasia, type I, type 2","FGFR3"]
["Thauvin-Robinet-Faivre syndrome","FIBP","Thauvin-Robinet-Faivre syndrome","FIBP"]
["Thiamine-responsive dysfunction syndrome","SLC19A2,SLC19A3,SLC25A19,TPK1","Thiamine-responsive megaloblastic anemia syndrome","SLC19A2"]
[null,null,"Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)","SLC19A3"]
[null,null,"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)","SLC25A19"]
[null,null,"Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)","TPK1"]
["Thrombocythemia","THPO","Thrombocythemia 1","THPO"]
["Thrombocytopenia","ABCG5,ABCG8,ANKRD26,CYCS,ETV6,FLNA,GATA1,HOXA11,MECOM,MPL,RBM8A,RUNX1,SRC,TPM4,TUBB1,WAS","Thrombocytopenia with sitosterolaemia 1","ABCG5"]
[null,null,"Thrombocytopenia with sitosterolaemia 2","ABCG8"]
[null,null,"Thrombocytopenia 2","ANKRD26"]
[null,null,"Thrombocytopenia 4","CYCS"]
[null,null,"Thrombocytopenia 5","ETV6"]
[null,null,"FLNA related thrombocytopenia","FLNA"]
[null,null,"Thrombocytopenia with beta-thalassemia, X-linked","GATA1"]
[null,null,"Radioulnar synostosis with amegakaryocytic thrombocytopenia 1","HOXA11"]
[null,null,"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2","MECOM"]
[null,null,"Congenital amegakaryocytic thrombocytopenia","MPL"]
[null,null,"Thrombocytopenia with absent radius","RBM8A"]
[null,null,"Familial platelet disorder, with predisposition to AML, with associated myeloid malignancy ","RUNX1"]
[null,null,"Thrombocytopenia 6","SRC"]
[null,null,"macrothrombocytopenia","TPM4"]
[null,null,"TUBB1-related thrombocytopenia","TUBB1"]
[null,null,"Thrombocytopenia, X-linked","WAS"]
["Thrombophilia","HABP2,HRG,KLKB1,KNG1,PLAT,PLG,PROC,PROS1,SERPINC1,SERPIND1,THBD","VTE (Venous thromboembolism) susceptibility","HABP2"]
[null,null,"Thrombophilia due to elevated HRG","HRG"]
[null,null,"Prekallikrein (fletcher) factor deficiency ","KLKB1"]
[null,null,"Kininogen deficiency","KNG1"]
[null,null,"Thrombophilia, familial, due to decreased release of PLAT","PLAT"]
[null,null,"Plasminogen deficiency, type 1","PLG"]
[null,null,"Thrombophilia due to protein C deficiency, autosomal dominant","PROC"]
[null,null,"Thrombophilia due to protein S deficiency, autosomal dominant","PROS1"]
[null,null,"Thrombophilia due to antithrombin III deficiency","SERPINC1"]
[null,null,"Thrombophilia due to heparin cofactor II deficiency","SERPIND1"]
[null,null,"Thrombophilia due to Thrombomodulin defect","THBD"]
["Thrombophilia due to heparin cofactor II deficiency","SERPIND1","Thrombophilia due to heparin cofactor II deficiency","SERPIND1"]
["Thrombotic thrombocytopenic purpura, familial","ADAMTS13","Thrombotic thrombocytopenic purpura, familial","ADAMTS13"]
["Thyroid dyshormonogenesis","DUOX2,DUOXA2,IYD,SLC5A5,TG,TPO","Thyroid dyshormonogenesis 6","DUOX2"]
[null,null,"Thyroid dyshormonogenesis 5","DUOXA2"]
[null,null,"Thyroid dyshormonogenesis 4","IYD"]
[null,null,"Thyroid dyshormonogenesis 1","SLC5A5"]
[null,null,"Thyroid dyshormonogenesis 3","TG"]
[null,null,"Thyroid dyshormonogenesis 2A","TPO"]
["Thyroid hormone metabolism, abnormal","SECISBP2","Thyroid hormone metabolism, abnormal","SECISBP2"]
["Thyroid hormone resistance","THRB","Thyroid hormone resistance","THRB"]
["Thyroxine-binding globulin deficiency","SERPINA7","Thyroxine-binding globulin deficiency","SERPINA7"]
["Timothy syndrome","CACNA1C","Timothy syndrome","CACNA1C"]
["TMA/C3G panel","ADAMTS13,C3,CD46,CFB,CFH,CFHR1,CFHR3,CFHR4,CFHR5,CFI,DGKE,MMACHC,PLG,THBD","Thrombotic thrombocytopenic purpura, familial","ADAMTS13"]
[null,null,"C3 deficiency","C3"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 2","CD46"]
[null,null,"Complement factor B deficiency","CFB"]
[null,null,"Complement factor H deficiency","CFH"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to","CFHR1"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to_CFHR3","CFHR3"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to_CFHR4","CFHR4"]
[null,null,"Nephropathy due to CFHR5 deficiency","CFHR5"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 3","CFI"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 7","DGKE"]
[null,null,"Methylmalonic aciduria and homocystinuria, cblC type","MMACHC"]
[null,null,"Plasminogen deficiency, type 1","PLG"]
[null,null,"Hemolytic uremic syndrome, atypical, susceptibility to, 6","THBD"]
["Tooth agenesis","EDA,GREM2,LRP6,LTBP3,MSX1,PAX9,WNT10A,WNT10B","Tooth agenesis, selective, X-linked 1","EDA"]
[null,null,"Tooth agenesis, selective, 9","GREM2"]
[null,null,"Tooth agenesis, selective, 7","LRP6"]
[null,null,"Tooth agenesis, selective, 6, Dental anomalies and short stature","LTBP3"]
[null,null,"Tooth agenesis, selective, 1, with or without orofacial cleft","MSX1"]
[null,null,"Tooth agenesis, selective, 3","PAX9"]
[null,null,"Tooth agenesis, selective, 4","WNT10A"]
[null,null,"Tooth agenesis, selective, 8","WNT10B"]
["Townes Brocks syndrome","SALL1","Townes-Brocks syndrome 1","SALL1"]
["Traboulsi syndrome","ASPH","Traboulsi syndrome","ASPH"]
["Transaldolase deficiency","TALDO1","Transaldolase deficiency","TALDO1"]
["Transcobalamin II deficiency","TCN2","Transcobalamin II deficiency","TCN2"]
["Transcobalamin receptor (TCBlR) deficiency (transcobalamin transport issue)","CD320","Transcobalamin receptor (TCBlR) deficiency (transcobalamin transport issue)","CD320"]
["Transposition of the great arteries","GDF1,MED13L","Transposition of the great arteries, dextro-looped 3","GDF1"]
[null,null,"Transposition of the great arteries, dextro-looped 1","MED13L"]
["Treacher Collins syndrome","POLR1C,POLR1D,TCOF1","Treacher Collins syndrome 3","POLR1C"]
[null,null,"Treacher Collins syndrome 2","POLR1D"]
[null,null,"Treacher Collins syndrome 1","TCOF1"]
["Trichohepatoenteric syndrome","SKIV2L,TTC37","Trichohepatoenteric syndrome 2","SKIV2L"]
[null,null,"Trichohepatoenteric syndrome 1","TTC37"]
["Trichorhinophalangeal syndrome, type I, type III","TRPS1","Trichorhinophalangeal syndrome, type I, type III","TRPS1"]
["Trichothiodystrophy","ERCC2,ERCC3,GTF2E2,GTF2H5,MPLKIP,RNF113A","Trichothiodystrophy, nonphotosensitive 1","ERCC2"]
[null,null,"Trichothiodystrophy, nonphotosensitive 2","ERCC3"]
[null,null,"Trichothiodystrophy 6, nonphotosensitive","GTF2E2"]
[null,null,"Trichothiodystrophy 3, photosensitive","GTF2H5"]
[null,null,"Trichothiodystrophy 4, nonphotosensitive","MPLKIP"]
[null,null,"Trichothiodystrophy 5, nonphotosensitive","RNF113A"]
["Trifunctional protein deficiency ","HADHA,HADHB","Trifunctional protein deficiency 1","HADHA"]
[null,null,"Trifunctional protein deficiency 2","HADHB"]
["Trimethylaminuria","FMO3","Trimethylaminuria","FMO3"]
["Trismus-pseudocamptodactyly syndrome","MYH8","Trismus-pseudocamptodactyly syndrome","MYH8"]
["Tuberous sclerosis","TSC1,TSC2","Tuberous sclerosis 1","TSC1"]
[null,null,"Tuberous sclerosis 2","TSC2"]
["Tumoral calcinosis","FGF23,GALNT3,KL,SAMD9","Tumoral calcinosis, hyperphosphatemic, familial 1","FGF23"]
[null,null,"Tumoral calcinosis, hyperphosphatemic, familial 2","GALNT3"]
[null,null,"Tumoral calcinosis 1","KL"]
[null,null,"Tumoral calcinosis, familial, normophosphatemic","SAMD9"]
["Tyrosinemia","FAH,GSTZ1,HPD,TAT","Tyrosinemia, type I","FAH"]
[null,null,"Tyrosinemia, type Ib","GSTZ1"]
[null,null,"Tyrosinemia, type III","HPD"]
[null,null,"Tyrosinemia, type II","TAT"]
["Ulna and fibula, absence of, with sever limb deficiency","WNT7A","Ulna and fibula, absence of, with severe limb deficiency","WNT7A"]
["Ulnar-mammary syndrome","TBX3","Ulnar-mammary syndrome","TBX3"]
["Urea Cycle","ARG1,ASL,ASS1,CPS1,NAGS,OTC","Argininemia","ARG1"]
[null,null,"Argininosuccinic aciduria","ASL"]
[null,null,"Citrullinemia","ASS1"]
[null,null,"Carbamoylphosphate synthetase I deficiency","CPS1"]
[null,null,"N-acetylglutamate synthase deficiency","NAGS"]
[null,null,"Ornithine transcarbamylase deficiency","OTC"]
["Urocanase deficiency","UROC1","Urocanase deficiency","UROC1"]
["Urofacial syndrome","HPSE2,LRIG2","Urofacial syndrome 1","HPSE2"]
[null,null,"Urofacial syndrome 2","LRIG2"]
["Usher syndrome","ABHD12,CDH23,CEP250,CIB2,CLRN1,DFNB31,GPR98,HARS,MYO7A,PCDH15,PDZD7,USH1C,USH1G,USH2A","Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract","ABHD12"]
[null,null,"Usher syndrome, type 1D","CDH23"]
[null,null,"Usher-Like","CEP250"]
[null,null,"Usher syndrome, type IJ","CIB2"]
[null,null,"Usher syndrome, type 3A","CLRN1"]
[null,null,"Usher syndrome, type 2D","DFNB31"]
[null,null,"Usher syndrome, type 2C","GPR98"]
[null,null,"Usher syndrome type 3B","HARS"]
[null,null,"Usher syndrome, type 1B","MYO7A"]
[null,null,"Usher syndrome, type 1F","PCDH15"]
[null,null,"Usher syndrome, type IIC","PDZD7"]
[null,null,"Usher syndrome, type 1C","USH1C"]
[null,null,"Usher syndrome, type 1G","USH1G"]
[null,null,"Usher syndrome, type 2A","USH2A"]
["UV-sensitive syndrome ","ERCC6,ERCC8,UVSSA","UV-sensitive syndrome 1","ERCC6"]
[null,null,"UV-sensitive syndrome 2","ERCC8"]
[null,null,"UV-sensitive syndrome 3","UVSSA"]
["VACTERL","HOXD13,ZIC3","VACTERL 1","HOXD13"]
[null,null,"VACTERL 2","ZIC3"]
["Van Buchem disease","SOST","Van Buchem disease","SOST"]
["Van den Ende-Gupta syndrome","SCARF2","Van den Ende-Gupta syndrome","SCARF2"]
["Van der Woude syndrome","GRHL3,IRF6","Van der Woude syndrome 2","GRHL3"]
[null,null,"Van der Woude syndrome","IRF6"]
["Van Maldergem syndrome","DCHS1,FAT4","Van Maldergem syndrome 1 ","DCHS1"]
[null,null,"Van Maldergem syndrome 2","FAT4"]
["Vanishing white matter disease","EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5","Leukoencephalopathy with vanishing white matter 1","EIF2B1"]
[null,null,"Leukoencephalopathy with vanishing white matter 2","EIF2B2"]
[null,null,"Leukoencephalopathy with vanishing white matter 3","EIF2B3"]
[null,null,"Leukoencephalopathy with vanishing white matter 4","EIF2B4"]
[null,null,"Leukoencephalopathy with vanishing white matter 5","EIF2B5"]
["Vascular malformations / Overgrowth","AKT1,EPHB4,GNA14,GNAQ,PIK3CA,PTEN,RASA1","Hemangioma","AKT1"]
[null,null,"Capillary malformation_EPHB4","EPHB4"]
[null,null,"Congenital and Sporadic Vascular Tumors","GNA14"]
[null,null,"Sturge-Weber syndrome","GNAQ"]
[null,null,"CLOVE syndrome / Cowden 5","PIK3CA"]
[null,null,"VATER association with macrocephaly and ventriculomegaly","PTEN"]
[null,null,"Parkes Weber syndrome","RASA1"]
["Velocardiofacial syndrome","TBX1","Velocardiofacial syndrome","TBX1"]
["Ventricular fibrillation, familial","DPP6,SCN5A","Ventricular fibrillation, paroxysmal familial, 2","DPP6"]
[null,null,"Ventricular fibrillation, familial, 1","SCN5A"]
["Ventricular septal defect","CITED2,GATA4,NKX2-5","Ventricular septal defect 2","CITED2"]
[null,null,"Ventricular septal defect 1","GATA4"]
[null,null,"Ventricular septal defect 3","NKX2-5"]
["Ventricular tachycardia, catecholaminergic polymorphic","CALM1,CASQ2,RYR2,TECRL,TRDN","Ventricular tachycardia, catecholaminergic polymorphic, 4hycardia","CALM1"]
[null,null,"Ventricular tachycardia, catecholaminergic polymorphic, 2","CASQ2"]
[null,null,"Ventricular tachycardia, catecholaminergic polymorphic, 1","RYR2"]
[null,null,"Ventricular tachycardia, catecholaminergic polymorphic, 3","TECRL"]
[null,null,"Ventricular tachycardia, catecholaminergic polymorphic, 5","TRDN"]
["Verheij syndrome","PUF60","Verheij syndrome","PUF60"]
["Vesicoureteral reflux","ROBO2,SOX17","Vesicoureteral reflux 2","ROBO2"]
[null,null,"Vesicoureteral reflux 3","SOX17"]
["Vici syndrome","EPG5","Vici syndrome","EPG5"]
["Vohwinkel syndrome with ichthyosis","LOR","Vohwinkel syndrome with ichthyosis","LOR"]
["Von Hippel Lindau","VHL","Von Hippel Lindau","VHL"]
["VonWillebrand disease","VWF","VonWillebrand disease, type 1","VWF"]
["Waardenburg syndrome","EDN3,EDNRB,MITF,PAX3,SNAI2,SOX10","Waardenburg syndrome, type 4B","EDN3"]
[null,null,"Waardenburg syndrome, type 4A","EDNRB"]
[null,null,"Waardenburg syndrome, type 2A","MITF"]
[null,null,"Waardenburg syndrome, type 1, type 3","PAX3"]
[null,null,"Waardenburg syndrome, type 2D","SNAI2"]
[null,null,"Waardenburg syndrome, type 4C","SOX10"]
["Wagner syndrome","VCAN","Wagner syndrome 1","VCAN"]
["Warburg micro syndrome","RAB18,RAB3GAP1,RAB3GAP2,TBC1D20","Warburg micro syndrome 3","RAB18"]
[null,null,"Warburg micro syndrome 1","RAB3GAP1"]
[null,null,"Warburg micro syndrome 2","RAB3GAP2"]
[null,null,"Warburg micro syndrome 4","TBC1D20"]
["Warsaw breakage syndrome","DDX11","Warsaw Breakage Syndrome","DDX11"]
["Warts, hypogammaglobulinemia, infections, and myelokathexis","ADRBK2,CXCR4","Warts, hypogammaglobulinemia, infections, and myelokathexis 1","ADRBK2"]
[null,null,"Warts, hypogammaglobulinemia, infections, and myelokathexis 2","CXCR4"]
["Weaver syndrome","EZH2,SUZ12","Weaver syndrome 1","EZH2"]
[null,null,"Weaver syndrome 2","SUZ12"]
["Webb-Dattani syndrome","ARNT2","Webb-Dattani syndrome","ARNT2"]
["Weill-Marchesani syndrome","ADAMTS10,ADAMTS17,FBN1,LTBP2","Weill-Marchesani syndrome 1","ADAMTS10"]
[null,null,"Weill-Marchesani-like syndrome","ADAMTS17"]
[null,null,"Weill-Marchesani syndrome 2, dominant","FBN1"]
[null,null,"Weill-Marchesani syndrome 3, recessive","LTBP2"]
["Werner syndrome","WRN","Werner syndrome","WRN"]
["Weyers acrodental dysostosis","EVC,EVC2","Weyers acrofacial dysostosis 1","EVC"]
[null,null,"Weyers acrofacial dysostosis 2","EVC2"]
["White sponge nevus","KRT13,KRT4","White sponge nevus 2","KRT13"]
[null,null,"White sponge nevus 1","KRT4"]
["Wiedemann-Steiner syndrome","KMT2A","Wiedemann-Steiner syndrome","KMT2A"]
["Wilms tumor","TRIP13,WT1","Wilms tumor, familial_TRIP13","TRIP13"]
[null,null,"Wilms tumor, familial","WT1"]
["Wilson-Turner syndrome","HDAC8,LAS1L","Wilson-Turner syndrome_HDAC8","HDAC8"]
[null,null,"Wilson-Turner syndrome_LAS1L","LAS1L"]
["Winchester syndrome","MMP14","Winchester syndrome","MMP14"]
["Wiskott Aldrich syndrome","WAS,WIPF1","Wiskott Aldrich syndrome","WAS"]
[null,null,"Wiskott-Aldrich syndrome 2","WIPF1"]
["Wolcott-Rallison dysplasia","EIF2AK3","Wolcott-Rallison dysplasia","EIF2AK3"]
["Wolff-Parkinson-White syndrome","PRKAG2","Wolff-Parkinson-White syndrome","PRKAG2"]
["Wolfram syndrome","CISD2,WFS1","Wolfram syndrome 2","CISD2"]
[null,null,"Wolfram syndrome 1","WFS1"]
["Woolly hair","KRT74","Woolly hair, autosomal dominant","KRT74"]
["Xanthinuria","MOCOS,XDH","Xanthinuria, type II","MOCOS"]
[null,null,"Xanthinuria, type I","XDH"]
["Xeroderma Pigmentosum","DDB2,ERCC1,ERCC2,ERCC3,ERCC4,ERCC5,POLH,XPA,XPC","Xeroderma pigmentosum, group E, DDB-negative subtype","DDB2"]
[null,null,"Cerebrooculofacioskeletal syndrome 4","ERCC1"]
[null,null,"Xeroderma pigmentosum, group D","ERCC2"]
[null,null,"Xeroderma pigmentosum, group B","ERCC3"]
[null,null,"Xeroderma pigmentosum, group F","ERCC4"]
[null,null,"Xeroderma pigmentosum, group G","ERCC5"]
[null,null,"Xeroderma pigmentosum, variant type","POLH"]
[null,null,"Xeroderma pigmentosum, group A","XPA"]
[null,null,"Xeroderma pigmentosum, group C","XPC"]
["You-Hoover-Fong syndrome","TELO2","You-Hoover-Fong syndrome","TELO2"]
["Zimmermann-Laband syndrome","ATP6V1B2,KCNH1","Zimmermann-Laband syndrome 2","ATP6V1B2"]
[null,null,"Zimmermann-Laband syndrome 1","KCNH1"]
["ZTTK syndrome","SON","ZTTK syndrome","SON"]