Auflistung molekulargenetischer Untersuchungen nach Fachgebieten

Auflistung einzelner Gene im Angebot

ErkrankungAbkürzungDiagn. OMIMGenGen OMIMdurchschnittliche Analysendauer (Tage)
3-hydroxyacyl-CoA dehydrogenase deficiencyHADH231530HAD6016097
3-M syndrome 13M273750CUL760957721
3-methylglutaconic aciduria, type IIIMGCA3258501OPA36065807
46XX sex reversal 1SRXX1400045SRY4800007
46XY partial gonadal dysgenesis, with minifascicular neuropathy607080DHH6054237
46XY sex reversal 1SRXY1400044SRY4800007
46XY sex reversal 3SRXY3612965NR5A11847577
46XY sex reversal 7SRXY7233420DHH6054237
ABCD syndromeABCDS600501EDNRB1312447
AbetalipoproteinemiaABL200100MTP15714714
Achondrogenesis IbACG1B600972SLC26A26067187
Achondrogenesis, type II or hypochondrogenesisACG2200610COL2A112014025
AchondroplasiaACH100800FGFR313493414
Acne inversa, familial, 3ACNINV3613737PSEN110431110
Acrodysostosis 1, with or without hormone resistanceADOHR101800PRKAR1A1888307
Acrokeratosis verruciformisAKV101900ATP2A210874014
Acromicric dysplasiaACMICD102370FBN113479728
ACTH-independent macronodular adrenal hyperplasiaAIMAH219080GNAS13932014
Acyl-CoA dehydrogenase, medium chain, deficiency ofMCAD201450ACADM60700810
Adenomas, multiple colorectalFAP2608456MUTYH60493314
Adenomatous polyposis coliFAP1175100APC61173121
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency202010CYP11B16106137
Adrenal hyperplasia, congenital, due to 17-hydroxylase deficiency202110CYP17A1609300
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyCAH608089CYP21A261381510
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadismAHC300200NR0B13004737
Adrenoleukodystrophy/AdrenomyeloneuropathyALD300100ABCD130037114
ADULT syndromeADULT103285TP636032737
Afibrinogenemia, congenital202400FGA13482010
Afibrinogenemia, congenital202400FGB1348307
Afibrinogenemia, congenital202400FGG1348507
Agammaglobulinemia, X-linked 1XLA300755BTK30030014
Aicardi-Goutieres syndrome 1AGS1225750TREX16066097
Aicardi-Goutieres syndrome 6AGS6615010ADAR14692018
Alagille syndrome 1ALGS1118450JAG160192016
Alagille syndrome 2ALGS2610205NOTCH260027521
Albinism, oculo cutaneous, type VIOCA6113750SLC24A56098027
Albinism, oculocutaneous IAOCA1A203100TYR6069337
Albinism, oculocutaneous IIOCA2203200OCA26114093
Albinism, oculocutaneous IVOCA4606574SLC45A26062027
Albinism, oculocutaneous, type IIIOCA3203290TYRP1115501
Albinism, oculocutaneous, type VIIOCA7615179C10ORF116145377
Aldosteronism, glucocorticoid-remediableGRA103900CYP11B16106137
Alexander diseaseALXDRD203450GFAP13778010
Allan-Herndon-Dudley syndromeAHDS300523SLC16A23000957
Alpha-1-Antitrypsin deficiency613490SERPINA11074007
Alpha-Thalassemia604131HBA1418007
Alport syndrome , X-linkedATS301050COL4A5303630
Alport syndrome, autosomal dominant104200COL4A3120070
Alport syndrome, autosomal recessive203780COL4A4120131
Alternating hemiplegia of childhood 2AHC2614820ATP1A318235018
Alzheimer disease, type 3AD3607822PSEN110431110
Amelogenesis imperfecta IBAI1B104500ENAM60658514
Amelogenesis imperfecta ICAI1C204650ENAM60658514
Amelogenesis imperfecta IIA1AI2A1204700KLK46037677
Amelogenesis imperfecta IIIAI3130900FAM83H61192710
Amyloidosis105200APOA11076807
Amyloidosis, familial105200FGA13482010
Amyloidosis, Finnish type -Familial amyloid polyneuropathy type 4105120GSN13735014
Amyloidosis, hereditary, Transthyretin-related105210TTR1763007
Amyloidosis, renal105200LYZ1534507
Amyotrophic lateral sclerosis 01ALS1105400SOD11474507
Amyotrophic lateral sclerosis 02ALS2205100ALS260635221
Amyotrophic lateral sclerosis 04ALS4602433SETX60846521
Amyotrophic lateral sclerosis 08ALS8608627VAPB6057047
Amyotrophic lateral sclerosis 09ALS9611895ANG1058507
Amyotrophic lateral sclerosis 10ALS10605078TARDBP6120697
Amyotrophic lateral sclerosis 11ALS11612577FIG460939018
Amyotrophic lateral sclerosis 12ALS12613435OPTN60243210
Amyotrophic lateral sclerosis 14ALS14613954VCP60102314
Amyotrophic lateral sclerosis 5, juvenileALS5602099SPG1161084421
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementiaALS6608030FUS13707014
Amyotrophic lateral sclerosis, susceptibility toALS1105400DCTN160114321
Amyotrophic lateral sclerosis, susceptibility to, 13ALS13183090ATXN26015177
AMYOTROPHY, HEREDITARY NEURALGIC; HNAHNA162100SEPT960406114
Andersen syndromeLQT7170390KCNJ26006817
Androgen insensitivityAIS300068AR31370010
Anemia, sideroblastic, X-linkedXLSA300751ALAS230130010
Anemia, X-linked, with/without neutropenia and/or platelet abnormalitiesXLANP300835GATA13053717
Angelman syndromeAS10583015q11-q137
Angelman syndromeAS105830UBE3A60162314
Angioedema, hereditaryHAE1106100C1NH6068607
Angioedema, hereditary, type IIIHAE3610618F1261061914
AniridiaAN106210PAX660710814
Anterior segment mesenchymal dysgenesisASMD107250FOXE36010947
Anterior segment mesenchymal dysgenesisASMD107250PITX36026697
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisABS2207410FGFR217694314
Aortic aneurysm, ascending, and dissectionFBN113479728
Aortic aneurysm, familial thoracic 6AAT6611788ACTA21026207
Apert syndrome101200FGFR217694314
Aphakia, congenital primary610256FOXE36010947
Aphasia, primary progressiveFTLD-TDP607485GRN1389457
Arthrogryposis multiplex congenita, distal, type 1DA1A108120TPM21909907
Arthrogryposis, distal 2ADA2A193700MYH316072021
Arthrogryposis, distal 2BDA2B601680MYH316072018
Arthrogryposis, distal 2BDA2B601680TNNI21910437
Arthrogryposis, distal 2BDA2B601680TNNT360069210
Arthrogryposis, distal 2BDA2B601680TPM21909907
Arthrogryposis, distal, type 3DA3114300PIEZO261362925
Arthrogryposis, distal, type 5DA5108145PIEZO261362921
Arthrogryposis, distal, type 8DA8178110MYH316072021
Asthma, susceptibility to600807HNMT6052387
Ataxia with Vitamin-E deficiencyAVED277460TTPA6004157
Ataxia-telangiectasiaAT208900ATM60758528
Ataxia-telangiectasia-like disorderATLD604391MRE11A60081418
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEAOH208920APTX6063507
Ataxia, spastic, 5, autosomal recessiveSPAX5614487AFG3L26045817
Atelosteogenesis IIAOII256050SLC26A26067187
Atelosteogenesis, type IAOI108720FLNB60338125
Atelosteogenesis, type IIIAOIII108721FLNB60338125
Atrial fibrillation, familial, 10ATFB10614022SCN5A6001637
Atrial fibrillation, familial, 13ATFB13615377SCN1B6002357
Atrial fibrillation, familial, 3ATFB3607554KCNQ160754214
Atrial fibrillation, familial, 4ATFB4611493KCNE26037967
Atrial fibrillation, familial, 9ATFB9613980KCNJ26006817
Atrioventricular septal defect 3AVSD3600309GJA11210147
Autoimmune disease, multisystem, infantile-onsetADMIO615952STAT310258214
Autosomal dominant popliteal pterygium syndromePPS119500IRF66071997
Avascular necrosis of the femoral headANFH608805COL2A112014021
Axenfeld-Rieger syndrome 1RIEG1180500PITX26015427
Bamforth-Lazarus syndrome241850FOXE160261710
Bannayan-Riley-Ruvalcaba syndromeBRRS153480PTEN6017287
Bardet-Biedl syndrome 01BBS1209900BBS120990114
Bardet-Biedl syndrome 02BBS2209900BBS260615114
Bardet-Biedl syndrome 06BBS6209900MKKS6048967
Bardet-Biedl syndrome 10BBS10209900BBS106101487
Bardet-Biedl syndrome 12BBS12209900BBS126106837
Bardet-Biedl syndrome 13BBS13209900MKS160988314
Bart-Pumphrey syndrome149200GJB2 (Cx26)1210117
Barth syndromeMGCA2302060TAZ30039414
Bartter syndrome, antenatal, type 1601678SLC12A160083921
Bartter syndrome, Antenatal, type 2241200KCNJ16003597
Bartter syndrome, type 3ROMK607364CLCNKB60202318
Bartter syndrome, type 4aBSND602522BSND6064127
Bartter syndrome, type 4B613090CLCNKA602024
Basal Cell Nevus SyndromeBCNS109400PTCH160130921
Beare-Stevenson syndromeBSTVS123790FGFR217694318
Beckwith-Wiedemann syndromeBWS130650CDKN1C6008567
Beckwith-Wiedemann syndromeBWS130650NSD160668121
Bent bone dysplasia syndromeBBDS614592FGFR217694314
Bernard-Soulier syndrome A1 (recessive)BSSA1231200GP1BA6066727
Bernard-Soulier syndrome A2 (dominant)BSSA2153670GP1BA6066727
Bernard-Soulier syndrome BBSSB231200GP1BB1387207
Bernard-Soulier syndrome CBSSC231200GP91735157
Bestrophinopathy, autosomal recessiveARB611809BEST16078547
Beta-Thalassemia613985HBB1419007
Bifid nose with or without anorectal and renal anomaliesBNAR608980FREM1608944
Bleeding disorder, platelet-type, 15BDPLT15615193ACTN1102575
Bleeding disorder, platelet-type, 16, autosomal dominantGT273800ITGB317347014
Blepharophimosis, epicanthus inversus, and ptosisBPES110100FOXL26055977
Bohring-Opitz syndromeBOPS605039ASXL161299014
Boomerang dysplasia603381FLNB60338125
Brachydactyly B1BDB1113000ROR260233710
Brachydactyly B2BDB2611377NOG6029917
Brachydactyly-syndactyly syndromeBDSD610713HOXD131429897
Brachydactyly, type A2BDA2112600BMP2112261
Brachydactyly, type DBDD113200HOXD131429897
Brachydactyly, type EBDE1113300HOXD131429897
Brachydactyly, type E2BDE2613382PTHLH16847014
Brachyolmia type 3BCYM3113500TRPV460542714
Branchiootic syndrome 1BOS1602588EYA160165310
Branchiootorenal syndrome 1, with or without cataractsBOR1113650EYA160165314
Branchiootorenal syndrome 2BOR2610896SIX560096314
Branchiootorenal syndrome 3BOS3113650SIX16012057
Breast cancer114480TP531911707
Breast cancer, early-onset114480BRIP1605882
Breast-Ovarian cancer, familial 1BROVCA1604370BRCA111370521
Breast-Ovarian cancer, familial 2BROVCA2612555BRCA260018521
Breast-Ovarian cancer, familial 3BROVCA3613399Rad51C6027747
Breast-ovarian cancer, familial, susceptibility to, 4BROVCA4614291RAD51D60295410
Brittle cornea syndrome (Ehlers-Danlos-Syndrome type 6B)BCS1229200ZNF46961207818
Bronchiectasis with or without elevated sweat chloride 1BESC1211400SCNN1B60076014
Bronchiectasis with or without elevated sweat chloride 2BESC2613021SCNN1A60022814
Bronchiectasis with or without elevated sweat chloride 3BESC3613071SCNN1G60076114
Brown-Vialetto-Van Laere syndrome 1BVVLS1211530SLC52A36133507
Bruck syndrome 2BRKS2609220PLOD260186514
Brugada syndrome 1BRGDA1601144SCN5A6001637
Brugada syndrome 5BRGDA5612838SCN1B6002357
Brugada syndrome 6BrS613119KCNE36044337
Brugada syndrome 9BRGDA9616399KCND360541110
Budd-Chiari syndromeBDCHS600880F56123097
Budd-Chiari syndromeBDCHS600880JAK214779618
C syndrome211750CD9660603714
CADASILCADASIL125310NOTCH360027618
Caffey disease114000COL1A112015021
Campomelic dysplasiaCMPD114290SOX96081607
CAPOS syndromeCAPOS601338ATP1A318235014
CARASILCARASIL600142HTRA16021947
Cardiac valvular dysplasia, X-linkedCVD1314400FLNA30001721
Cardiofaciocutaneous syndromeCFC1115150BRAF16475714
Cardiofaciocutaneous syndrome 2CFC2615278KRAS1900707
Cardiofaciocutaneous syndrome 3CFC3609942MAP2K117687210
Cardiofaciocutaneous syndrome 4CFC4615280MAP2K260126310
Cardiomyopathy, dilated, 1ACMD1A115200LMNA15033014
Cardiomyopathy, dilated, 1ECMD1E601154SCN5A6001637
Cardiomyopathy, dilated, 1LCMD1L606685SGCD6014117
Cardiomyopathy, dilated, 1NNCMD1NN615916RAF116476014
Cardiomyopathy, dilated, 1UCMD1U613694PSEN110431110
Cardiomyopathy, dilated, 1XCMD1X611615FKTN60744010
Cardiomyopathy, dilated, 3BCMD3B302045DMD3003777
Cardiomyopathy, familial hypertrophicCMH1192600CAV36012537
Cardiomyopathy, hypertrophic, 25CMH25607487TCAP6044887
Carney complex, type 1CNC1160980PRKAR1A1888307
Carotid intimal medial thickness 1CIMT1609338PPARG6014877
Carpal tunnel syndrome, familialCTS1115430TTR1763007
Cataract 11, multiple typesCTRCT11610623PITX36026697
Cataract 12CTRCT12611597BFSP26032127
Cataract 15, multiple typesCTRCT15604219MIP1540507
Cataract 6, multiple typesCTRCT6116600EPHA217694614
Cataract with late-onset corneal dystrophy106210PAX660710810
CATSHL syndromeCATSHL610474FGFR313493414
Caudal regression syndromeSDAM182940VANGL16101327
CCFDN-Syndrom, Congenital cataracts, facial dysmorphism, and neuropathyCCFDN604168CTDP1604927
Central hypoventilation syndrome, congenitalCCHS209880RET16476118
Cerebral amyloid angiopathy, PRNP-related137440PRNP1766407
Cerebral creatine deficiency syndrome 1CCDS1300352SLC6A83000367
Cerebrooculofacioskeletal syndrome 1COFS1214150ERCC660941318
Cerebrotendinous xanthomatosisCTX213700CYP27A16065307
Ceroid lipofuscinosis, neuronal, 1CLN1256730PPT16007227
Ceroid lipofuscinosis, neuronal, 11CLN11614706GRN1389457
Ceroid lipofuscinosis, neuronal, 2NCL2204500TPP160799810
Ceroid lipofuscinosis, neuronal, 3CLN3204200CLN360704210
Charcot-Marie-Tooth 1ACMT1A118220PMP226010977
Charcot-Marie-Tooth 1BCMT1B118200MPZ1594407
Charcot-Marie-Tooth 1DCMT1D607678EGR21290107
Charcot-Marie-Tooth 1ECMT1E118300PMP226010977
Charcot-Marie-Tooth 1FCMT1F607734NEFL1622807
Charcot-Marie-Tooth 2ACMT2A609260MFN260850714
Charcot-Marie-Tooth 2B1CMT2B1605588LMNA15033014
Charcot-Marie-Tooth 4JCMT4J611228FIG460939014
Charcot-Marie-Tooth disease, axonal, type 2FCMT2F606595HSPB16021957
Charcot-Marie-Tooth disease, axonal, type 2KCMT2K607831GDAP16065987
Charcot-Marie-Tooth disease, axonal, type 2LCMT2L608014HSPB86080147
Charcot-Marie-Tooth disease, axonal, type 2MCMTDIB606482DNM2602378
Charcot-Marie-Tooth disease, axonal, type 2VCMT2V616491NAGLU60970110
Charcot-Marie-Tooth disease, axonal, type 2XCMT2X616668SPG1161084421
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis607706GDAP16065987
Charcot-Marie-Tooth disease, dominant intermediate DCMTDID607791MPZ1594407
Charcot-Marie-Tooth disease, recessive intermediate, ACMTRIA608340GDAP16065987
Charcot-Marie-Tooth disease, type 1CCMT1C601098LITAF6037957
Charcot-Marie-Tooth disease, type 2DCMT2D601472GARS60028714
Charcot-Marie-Tooth disease, type 2ECMT1F607684NEFL1622807
Charcot-Marie-Tooth disease, type 2ICMT2I607677MPZ1594407
Charcot-Marie-Tooth disease, type 2JCMT2J607736MPZ1594407
Charcot-Marie-Tooth disease, type 2YCMT2Y616687VCP60102314
Charcot-Marie-Tooth disease, type 4ACMT4A214400GDAP16065987
Charcot-Marie-Tooth disease, type 4KCMT4K616684SURF11856207
Charcot-Marie-Tooth X-linkedCMTX1302800GJB13040407
CHARGE syndromeHHS214800CHD760889221
CherubismCRBM118400SH3BP26021047
Chilblain lupus610448TREX16066097
Cholestasis, benign recurrent intrahepaticICP1243300ATP8B160239714
Cholestasis, benign recurrent intrahepatic, 2BRIC2605479ABCB1160320118
Cholestasis, intrahepatic, of pregnancy, 1ICP1147480ATP8B160239714
Cholestasis, intrahepatic, of pregnancy, 3ICP3614972ABCB417106021
Cholestasis, progressive familial intrahepatic 1PFIC1211600ATP8B160239718
Cholestasis, progressive familial intrahepatic 2PFIC2601847ABCB1160320118
Cholestasis, progressive familial intrahepatic 3PFIC3602347ABCB417106021
Chondrodysplasia punctataCDPX1302950ARSE3001807
Chondrodysplasia punctata, rhizomelic, type 1RCDP1215100PEX760175710
Chondrodysplasia, Blomstrand typeBOCD215045PTHR116846814
Chondrosarcoma215300EXT160817710
Chorea, hereditary benignBHC118700NKX2-16006357
Choriodal dystrophy, central areolar 2CACD2613105PRPH21796057
ChoroideremiaCHM303100CHM30039010
Chronic infections, due to MBL deficiencyMBL2614372MBL21545457
Ciliary dyskinesia, primary, 1, with or without situs inversusPCD, CILD1244400DNAI16043667
Ciliary dyskinesia, primary, 3, with or without situs inversusCILD3608644DNAH56033357
CINCA syndromeCINCA607115NLRP360641614
Cleft lip/palate-ectodermal dysplasia syndromeCLPED1225060PVRL160064410
Cleft palate with ankyloglossia X-linkedCPX303400TBX2230030714
Cockayne syndromeCSA216400ERCC860941210
Cockayne syndrome BCSB133540ERCC660941321
Codeine sensitivity- DRUG METABOLISM, POOR, CYP2D6-RELATED608902Cyp2D61240307
Coffin-Lowry syndromeCLS303600RPS6KA330007518
Cohen syndromeCOH1216550VPS13B60781728
Coloboma isolated610210MAF161021010
Coloboma isolated604295VAX260429510
Coloboma of optic nerve120430PAX660710814
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomasMAP132600MUTYH60493314
Colorectal cancerCRC114500TP531911707
Colorectal cancer, hereditary nonpolyposis, 1HNPCC1120435MSH260930914
Colorectal cancer, hereditary nonpolyposis, 2HNPCC2609310MLH112043614
Colorectal cancer, hereditary nonpolyposis, 5HNPCC5614350MSH660067814
Colorectal cancer, hereditary nonpolyposis, type 4HNPCC4614337PMS260025914
Colorectal cancer, hereditary nonpolyposis, type 6HNPCC6614331TGFBR219018210
Colorectal cancer, hereditary nonpolyposis, type 8HNPCC8613244EPCAM1855357
Combined oxidative phosphorylation deficiency-14COXPD14614946FARS26115927
Complement component 4, partial deficiency of120790C1NH6068607
Cone-rod dystrophy 13CORD13608194RPGRIP1605446
Cone-rod dystrophy 2CORD2120970CRX602225
Cone-rod dystrophy 6CORD6601777GUCY2D60017914
Cone-rod dystrophy, X-linked, 1CORDX1304020RPGR31261021
Congenital disorder of glycosylation, type IaCDG1A212065PMM26017857
Congenital myopathy with excess of muscle spindlesCSTLO218040HRAS1900207
Congenital short bowel syndromeIPOX300048FLNA30001721
Convulsions, familial infantile with paroxysmal choreoathetosisICCA602066PRRT26143867
CoproporphyriaHCP121300CPOX61273210
Cornelia de Lange syndrome 5CDLS5300882HDAC830026910
Cornelia-de-Lange syndrome 1CDLS1122470NIPBL60866721
Cornelia-de-Lange syndrome 3CDLS3610759SMC360606221
Corpus callosum, partial agenesis of304100L1CAM30884018
Cowden syndrome 1CWS1158350PTEN6017287
Cowden syndrome 2CWS2612359SDHB1854707
Cowden syndrome 3615106SDHD6026907
CPT deficiency, hepatic IA255120CPT1A60052814
CPT deficiency, hepatic, type II600649CPT260065010
CPT II deficiency, lethal neonatal608836CPT26006507
Craniofacial-deafness-hand syndromeCDHS122880PAX360659710
Craniofrontonasal dysplasiaCFNS304110EFNB1300035
Craniometaphyseal dysplasia, autosomal recessiveCMDR218400GJA11210147
Creatine phosphokinase, elevated serum123320CAV36012537
Creutzfeldt-Jakob diseaseCJD123400PRNP1766407
Cri-du-chat syndromeCDC123450CTNND26042757
Crigler-Najjar syndromeHBLRCN1218800UGT1A11917407
Crouzon syndrome123500FGFR217694318
Crouzon syndrome with acanthosis nigricansCAN612247FGFR313493414
Currarino syndrome176450MNX11429947
Cushing syndrome, ACTH-independent adrenal, somatic615830PRKACA601639
Cutaneous Malignant MelanomaCMM2155601CDKN2A6001607
Cutis laxa, autosomal dominant 2ADCL2614434FBLN560458010
Cutis laxa, autosomal recessive, type IAARCL1A219100FBLN560458010
Cystic FibrosisCF219700CFTR60242118
Cystinosis, nephropathicCTNS219800CTNS6062727
Cystinosis, ocular nonnephropathic219750CTNS6062727
CystinuriaCSNU220100SLC3A110461410
Czech dysplasia609162COL2A112014025
Dandy-Walker malformation220200FOXC16010907
Dandy-Walker malformation220200FOXL26055977
Danon disease300257LAMP23090607
Darier DiseaseDAR124200ATP2A210874018
De Sanctis-Cacchione syndromeUVSS1133540ERCC660941321
Deafness, autosomal dominant 11DFNA11601317MYO7A27690321
Deafness, autosomal dominant 17DFNA17603622MYH916077521
Deafness, autosomal dominant 23DFNA23605192SIX16012057
Deafness, autosomal dominant 3ADFNA3A601544GJB2 (Cx26)1210117
Deafness, autosomal dominant 3BDFNA3B612643GJB6 (Cx30)6044187
Deafness, autosomal dominant 4ADFNA4600652MYH146085687
Deafness, autosomal recessive 1BDFNB1B612645GJB6 (Cx30)6044187
Deafness, autosomal recessive 2DFNB2600060MYO7A27690321
Deafness, autosomal recessive 4, with enlarged vestibular aqueductDFNB4600791SLC26A460564614
Deafness, digenic 1ADFNB1A220290GJB6 (Cx30)6044187
Deafness, neurosensory, autosomal recessiveDFNB1A220290GJB2 (Cx26)1210117
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL500008MT-ND15160007
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL500008MT-RNR15610007
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL500008MT-TH5900407
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL500008MT-TS15900807
Dejerine-Sottas diseaseDSS145900EGR21290107
Dejerine-Sottas diseaseDSS180800PMP226010977
Dementia, frontotemporalFTD600274MAPT1571407
Dementia, frontotemporalFTD600274PSEN110431110
Dent disease 2300555OCRL130053521
Dentatorubro-pallidoluysian atrophyDRPLA125370ATN16074627
Denys-Drash syndromeDDS194080WT160710210
Desmoid disease, hereditaryFAP1135290APC61173121
Diabetes insipidus, nephrogenicNDI304800AQP2107777
Diabetes insipidus, nephrogenicNDI304800AVPR2300538
Diabetes mellitus, insulin-dependent, 2IDDM2125852INS1767307
Diabetes mellitus, insulin-dependent, 20IDDM20612520HNF1A1424107
Diabetes mellitus, ketosis-proneKPD612227PAX41674137
Diabetes mellitus, noninsulin-dependentNIDDM125853HNF1B1899077
Diabetes mellitus, noninsulin-dependentNIDDM125853PAX41674137
Diabetes mellitus, noninsulin-dependent, 2NIDDM125853HNF1A1424107
Diabetes mellitus, noninsulin-dependent, late onsetNIDDM125853GCK13807921
Diabetes mellitus, permanent neonatalPNDM606176ABCC860050921
Diabetes mellitus, permanent neonatalPNDM606176GCK13807910
Diabetes mellitus, permanent neonatalPNDM606176KCNJ116009377
Diabetes mellitus, transient neonatal 2TNDM2610374ABCC860050921
Diabetes mellitus, transient neonatal, 3PNDM610582KCNJ116009377
Diastrophic dysplasiaDTD222600SLC26A26067187
DiGeorge syndrome18840022q11.21884007
Digital arthropathy-brachydactyly, familialFDAB606835TRPV460542714
Dihydropyrimidin Dehydrogenase deficiencyDYPD274270DPYD2742703
Dowling-Degos disease 1DDD1179850KRT514804010
Dravet syndromeEIEE6607208SCN1A18238921
Duane-radial ray syndromeDRRS607323SALL460734310
Dubin-Johnson syndromeDJS237500ABCC260110721
Dysautonomia, familialHSAN3223900IKBKAP60372221
Dyschromatosis symmetrica hereditariaDSH127400ADAR14692021
Dyschromatosis universalis hereditaria 3DUH3615402ABCB660545221
Dysfibrinogenemia202400FGB1348307
Dysfibrinogenemia202400FGG1348507
Dysfibrinogenemia, congenital616004FGA13482010
Dysprothrombinemia/Hypoprothrombinemia613679F217693010
Dystonia 01DYT1128100TOR1A6052047
Dystonia 11DYT11159900SGCE60414910
Dystonia 25DYT25615073GNAL13931214
Dystonia 6, torsionDYT6602629THAP16095207
Dystonia 9DYT9601042SLC2A113814010
Dystonia-12DYT12128235ATP1A318235014
Dystonia, DOPA-responsive, with or without hyperphenylalaninemiaDRD128230GCH16002257
Dystonia, DOPA-responsive, with or without hyperphenylalaninemiaDRD128230GCH16002257
Dystransthyretinemic hyperthyroxinemia145680TTR1763007
Ectodermal dysplasia 1, hypohidrotic, X-linkedXHED305100EDA30045110
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantECTD10A129490EDAR60409510
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveECTD10B224900EDAR60409510
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantECTD11A129490EDARADD6066037
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessiveECTD11B614941EDARADD6066037
Ectodermal dysplasia 2, Clouston typeECTD2129500GJB6 (Cx30)6044187
Ectodermal dysplasia 3, Witkop typeECTD3189500MSX11429837
Ectodermal dysplasia-syndactyly syndrome 1EDSS1613573PVRL460960710
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiencyOLEDAID300301IKBKG30024810
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiencyED612132NFKBIA1640087
Ectodermal dysplasia, hypohidrotic, with immune deficiencyHED-ID300291IKBKG30024810
Ectopia lentis, familialECTOL1129600FBN113479728
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3EEC3604292TP6360327314
Ehlers-Danlos syndrome IIEDSII130010COL5A112021528
Ehlers-Danlos syndrome IVEDSIV130050COL3A112018021
Ehlers-Danlos syndrome VIIBEDSVIIB130060COL1A212016021
Ehlers-Danlos syndrome VIICEDSVIIC225410ADAMTS260453921
Ehlers-Danlos syndrome, autosomal dominant, hypermobility type130020TNXB6009857
Ehlers-Danlos syndrome, cardiac valvular form225320COL1A212016021
Ehlers-Danlos syndrome, classic typeEDSI130000COL1A112015025
Ehlers-Danlos syndrome, classic typeEDSI130000COL5A112021528
Ehlers-Danlos syndrome, classic typeEDSI130000COL5A212019028
Ehlers-Danlos syndrome, musculocontractural type 1EDSMC1601776CHST146084297
Eiken syndrome600002PTHR116846814
Emery-Dreifuss muscular dystrophy 2, ADEDMD2181350LMNA15033014
Emery-Dreifuss muscular dystrophy 3, AREDMD3616516LMNA15033014
Encephalopathy, acute, infection-induced, 4, susceptibility toIIAE4614212CPT26006507
Encephalopathy, neonatal severe300673MECP23000057
Encephalopathy, progressive, with or without lipodystrophyPELD615924BSCL26061587
Endometrial cancer, familial608089MSH360088718
Endometrial cancer, familial608089MSH660067814
Endometrial carcinoma608089CDH1192090
Endometrial carcinoma608089MSH3600887
Endometrial carcinoma608089MSH6600678
Endometrial carcinoma608089PTEN601728
Enhanced S-cone syndrome (Goldmann-Favre syndrome)ESCS268100NR2E36044857
Epidermolysis bullosa simplex-MPEBSMP131960KRT514804010
Epidermolysis bullosa simplex, Dowling-Meara typeEBSDM131760KRT514804010
Epidermolysis bullosa simplex, Koebner type131900KRT514804010
Epidermolysis bullosa simplex, recessive 1EBSB1601001KRT514804010
Epidermolysis bullosa simplex, Weber-Cockayne typeEBSB1131800KRT514804010
Epidermolytic hyperkeratosisEHK113800KRT113935010
Epidermylysis bullosa simplex-MCR609352KRT514804010
Epilepsy of LaforaMELF254780EPM2A60756610
Epilepsy of LaforaMELF254780NHLRC16080727
Epilepsy of Unverricht and LundborgEPM1254800CSTB6011457
Epilepsy, benign neonatal 1EBN1121200KCNQ260223514
Epilepsy, childhood absence, susceptibility to, 2ECA2607681GABRG213716410
Epilepsy, familial temporal lobe, 1ETL1600512LGI16046197
Epilepsy, familial temporal lobe, 5ELT5614417CPA660956210
Epilepsy, familial temporal lobe, 7ETL7616436RELN60051421
Epilepsy, focal, with speech disorder and with or without mental retardationFESD245570GRIN2A13825314
Epilepsy, generalized with febrile seizures plus (GEFS+) 1GEFSP1604233SCN1B6002357
Epilepsy, generalized with febrile seizures plus (GEFS+) 2GEFSP2604403SCN1A18238921
Epilepsy, generalized with febrile seizures plus (GEFS+) 3GEFSP3611277GABRG213716410
Epilepsy, generalized with febrile seizures plus (GEFS+) 5GEFSP5613060GABRD1371637
Epilepsy, generalized with febrile seizures plus, type 7GEFSP7613863SCN9A60341521
Epilepsy, idiopathic generalized, 11EIG11607628CLCN260057021
Epilepsy, idiopathic generalized, 8EIG8612899CASR60119910
Epilepsy, idiopathic generalized, susceptibility to, 9607682CACNB460194914
Epilepsy, idiopathic generalized, suscpetibility to, 12EIG12138140SLC2A11381407
Epilepsy, juvenile absence, susceptibility to, 1EJA1608815EFHC160881510
Epilepsy, juvenile absence, susceptibility to, 2EJA2607628CLCN260057021
Epilepsy, juvenile myoclonic 6EJM6/EIG9607682CACNB460194914
Epilepsy, juvenile myoclonic 8EJM8607628CLCN260057021
Epilepsy, juvenile myoclonic, susceptibility to, 5EJM5611136GABRA11371607
Epilepsy, nocturnal frontal lobe 3ENFL3605375CHRNB21185077
Epilepsy, nocturnal frontal lobe, 1ENFL1600513CHRNA411850410
Epilepsy, nocturnal frontal lobe, 5ENFL5615005KCNT160816721
Epilepsy, nocturnal frontal lobe, type 4ENFL4610353CHRNA211850210
Epilepsy, Pyriodoxine-dependentEPD266100ALDH7A110732318
Epileptic encephalopathy, early infantile 01EIEE1308350ARX3003827
Epileptic encephalopathy, early infantile 11EIEE11613721SCN2A18239021
Epileptic encephalopathy, early infantile 2EIEE2300672CDKL530020318
Epileptic encephalopathy, early infantile 5EIEE5613477SPTAN118281025
Epileptic encephalopathy, early infantile 7EIEE7613720KCNQ260223514
Epileptic encephalopathy, early infantile 9EIEE9300088PCDH1930046014
Epileptic encephalopathy, early infantile, 14EIEE14614959KCNT160816721
Epileptic encephalopathy, early infantile, 19EIEE19615744GABRA11371607
Epileptic encephalopathy, early infantile, 24EIEE24615871HCN16027807
Epileptic encephalopathy, early infantile, 4EIEE4612164STXBP160292614
Epileptic encephalopathy, Lennox Gastaut type606369MAPK1060289714
Epiphyseal dysplasia, multiple, 1EDM1132400COMP60031014
Epiphyseal dysplasia, multiple, 2EDM2600204COL9A21202607
Epiphyseal dysplasia, multiple, 3EDM 3600969COL9A31202707
Epiphyseal dysplasia, multiple, 4EDM4226900SLC26A26067187
Epiphyseal dysplasia, multiple, 5EDM 5607078MATN36021097
Epiphyseal dysplasia, multiple, 6EDM6614135COL9A11202107
Epiphyseal dysplasia, multiple, with myopia and deafnessEDMMD132450COL2A112014025
Episodic Ataxia 2EA2108500CACNA1A60101128
Episodic Ataxia 5EA5613855CACNB460194914
Episodic Ataxia 6EA6612656SLC1A36001117
Episodic ataxia/myokymia syndromeEA1160120KCNA11762607
Episodic kinesigenic dyskinesia 1EKD1128200PRRT26143867
Episodic pain syndrome, familial, 1FEPS1615040TRPA160477518
Episodic pain syndrome, familial, 2FEPS2615551SCN10A60442721
Episodic pain syndrome, familial, 3FEPS3615552SCN11A60438521
Epstein syndrome153650MYH916077521
Erythermalgia133020SCN9A60341521
Erythrocytosis, familial, 2ECYT2263400VHL6085377
Erythrokeratodermia variabilis et progressivaEKVP133200GJA11210147
Esophageal cancerESCC133239TGFBR219018210
Exudative vitreoretinopathy 1EVR1133780FZD46045797
Exudative vitreoretinopathy 2, X-linkedND310600NDP3006587
Exudative vitreoretinopathy 4EVR4601813LRP560350621
Fabry disease301500GLA30064410
Facioscapulohumeral muscular dystrophy 1AFSHD158900D4Z4 REPEAT60600935
Factor V deficiency227400F56123097
Factor VII deficiency227500F76138787
Factor X deficiency227600F102276007
Factor XI deficiency612416F1126490014
Factor XII deficiency234000F1261061914
FAHR DISEASE, FAMILIAL, FORMERLYIBGC1213600SLC20A215837810
Failure of tooth eruption, primaryPFE125350PTHR116846814
Familial cold urticariaFCAS1120100NLRP360641614
Familial Mediterranean Fever, ADFMF134610MEFV60810714
Fanconi anemia, complementation group D1FANCD1605724BRCA260018521
Fanconi anemia, complementation group JFANCJ609054BRIP1605882
Fanconi anemia, complementation group NFANCN610832PALB261035514
Fanconi anemia, complementation group OFANCO613399Rad51C6027747
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the youngFRTS4616026HNF4A60028110
Fanconi-Bickel syndromeFBS227810SLC2A213816010
Fazio-Londe Disease211500SLC52A36133507
Febrile seizures, familial, 11FEB11614418CPA660956210
Fechtner syndromeFTNS153640MYH916077521
Fetal akinesia deformation sequenceFADS208150DOK76102857
Fetal akinesia deformation sequenceFADS208150RAPSN6015927
FG syndrome 2FGS2300321FLNA30001721
Fibromatosis, gingivalGINGF1135300SOS118253021
Focal cortical dysplasia, Taylor balloon cell typeFCDT607341TSC160528421
Focal dermal hypoplasiaFDH305600PORCN30065110
Foveal hyperplasiaFVH1136520PAX660710814
Fragile X syndrome A300624FMR130955014
Fragile X-associated tremor/ataxia syndromeFXTAS300623FMR13095507
Frank-ter Haar syndromeFTHS249420SH3PXD2B61329314
Frasier syndrome136680WT160710210
Friedreich ataxiaFRDA229300FXN16068297
Frontometaphyseal dysplasiaFMD305620FLNA30001721
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1FTDALS1105550C9orf726142607
Frontotemporal lobar degenerationFTLD-TDP605078TARDBP6120697
Frontotemporal lobar degeneration with ubiquitin-positive inclusionsFTD607485GRN1389457
Fructose intolerance229600ALDOB6127247
Fuhrmann syndrome228930WNT7A6015707
Fumarase deficiencyFMRD606812FH13685010
GalactosemiaGALT230400GALT60699914
Gallbladder disease 1GBD1600803ABCB417106021
Gastric CancerHDGC137215CDH119209014
Gastrointestinal stromal tumorGIST606764SDHB1854707
Gastrointestinal stromal tumor606764SDHC6024137
Gastrointestinal stromal tumorGIST606764SDHD6026907
Geleophysic dysplasia 2GPHYSD2614185FBN113479728
Gilles-de-la-Tourette syndromeGTS137580SLITRK16096787
Gillespie syndrome206700PAX660710814
Glaucoma 1, open angle, GGLC1G609887WDR36609669
Glaucoma 1A, primary open angleGLC1A137750MYOC601652
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onsetGLC3A231300CYP1B16017717
Glioblastoma 3GLM3613029BRCA260018521
GM1-gangliosidosis, type IGM1230500GLB161145814
GM1-gangliosidosis, type II230600GLB161145814
GM1-gangliosidosis, type III230650GLB161145814
Gnathodiaphyseal dysplasiaGDD166260ANO560866221
Growth hormone insensitivity with immunodeficiency245590STAT5B60426014
Growth hormone insensitivity, partialGHIP604271GHR60094610
Growth restriction, severe, with distinctive faciesGRDF616489IGF2147470
Hailey–Hailey diseaseBCPM, HHD169600ATP2C160438421
Hajdu-Cheney syndromeHJCYS102500NOTCH260027521
HARP syndromeHARP607236PANK26061577
Heart-hand syndrome, Slovenian type610140LMNA15033014
Hematuria, benign familialBFH141200COL4A4120131
HemochromatosisHFE235200HFE2352007
Hemochromatosis, type 4HFE4606069SLC40A16046537
Hemophagocytic Lymphohistiocytosis 2FHL2603553PRF11702807
Hereditary motor and sensory neuropathy VIAHMSN6A601152MFN260850714
Hereditary nonpolyposis colon cancerHNPCC120435MSH360088718
Hereditary nonpolyposis colon cancerHNPCC120435PMS160025814
Hermansky-Pudlak Syndrome 3HPS3614072HPS360611814
Hermansky-Pudlak Syndrome 4HPS4614073HPS460668210
Hermansky-Pudlak Syndrome 5614074HPS5607521
Hermansky-Pudlak Syndrome 6614075HPS6607522
Hermansky-Pudlak Syndrome 7HPS7614076DTNBP160714510
Hermansky-Pudlak Syndrome 8614077BLOC1S3609762
Heterotopia, periventricularPVNH1300049FLNA30001721
Hirschsprung disease, susceptibility to, 1HSCR1142623RET16476118
Huntington disease like 1HDL1603218PRNP1766407
Huntington disease like 2HDL2606430JPH36052687
Hutchinson-Gilford progeria syndromeHGPS176670LMNA15033014
Hyper-IgE recurrent infection syndromeJOB147060STAT310258214
Hyperbilirubinemia, familial transient neonatal237900UGT1A11917407
Hypercalcemia, infantile143880Cyp24A112606514
Hypercholesterolemia143890LDLR60694514
Hyperekplexia 2, autosomal recessiveHKPX2614619GLRB1384927
Hyperferritinemia-cataract syndromeHHCS600886FTL1347907
Hyperinsulinemic hypoglycemia, familial, 1HHF1256450ABCC860050921
Hyperinsulinemic hypoglycemia, familial, 2HHF2601820KCNJ116009377
Hyperinsulinemic hypoglycemia, familial, 3HHF3602485GCK13807910
Hyperinsulinemic hypoglycemia, familial, 4HHF4609975HADH6016097
Hyperinsulinism-hyperammonemia syndromeHHF6606762GLUD113813010
Hyperkalemic periodic paralysis, type 2HYPP2170500SCN4A60396714
Hyperlipoproteinemia, type III107741APOE1077413
Hyperornithinemia-Hyperammonemia-Homocitrullinemina SyndromHHH238970SLC25A156038617
Hyperostosis, endosteal144750LRP560350621
Hyperoxaluria, primary IHP1259900AGXT60428510
Hyperoxaluria, primary IIIHP3613616HOGA161359710
Hyperparathyroidism, neonatalNSHPT239200CASR60119910
Hyperphenylalaninemia, BH4-deficient, BHPABH4B233910GCH16002257
Hyperphenylalaninemia, BH4-deficient, BHPABH4B233910GCH16002257
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy605115NR3C260098310
Hyperthyroidism, familial gestational603373TSHR60337220
Hyperthyroidism, nonautoimmune609152TSHR60337220
Hypertriglyceridemia, transient infantileHTGTI614480GPD11384207
Hyperuricemic nephropathy, familial juvenile 1HNFJ1162000UMOD19184510
HypoalphalipoproteinemiaFHA604091APOA11076807
HypobetalipoproteinemiaFHBL1615558APOB1077307
Hypocalcemia, autosomal dominantHYPOC1601198CASR60119910
Hypocalcemia, autosomal dominant 2HYPOC2615361GNA111393137
Hypocalciuric hypercalcemia, type IHHC1145980CASR60119910
Hypocalciuric hypercalcemia, type IIHHC2145981GNA111393137
HypochondroplasiaHCH146000FGFR313493418
Hypoglycemia of infancy, leucine-sensitive240800ABCC860050921
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)KAL1308700KAL130083610
Hypogonadotropic hypogonadism 11 with or without anosmia (Kallmann syndrome 11)614840TACR3162332
Hypogonadotropic hypogonadism 2 with or without anosmiaHH2147950FGFR113635014
Hypokalemic periodic paralysis 2HOKPP2613345SCN4A6039677
Hypokalemic periodic paralysis, type 1HOKPP1170400CACNA1S1142087
Hypoparathyroidism, familial isolatedFIH146200GCM26037167
Hypophosphatasia, adult146300ALPL17176010
Hypophosphatasia, infantileHOPS241500ALPL17176010
Hypophosphatemic RicketsXLHR307800PHEX30055018
Hypophosphatemic rickets, ARARHR1241520DMP1600980
Hypophosphatemic rickets, autosomal dominantADHR193100FGF236053807
Hypoplastic left heart syndrome 1HLHS1241500GJA11210147
Hypospadias 1, X-linkedHYSP1300633AR31370010
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasiaCHNG2218700PAX816741520
Hypothyroidism, congenital, nongoitrous, 1CHNG1275200TSHR60337220
Hystrix-like ichthyosis with deafness602540GJB2 (Cx26)1210117
Ichthyosis bullosa of SiemensIBS146800KRT260019410
Ichthyosis histrix, Curth-Macklin typeIHCM146590KRT113935010
Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602KRT113935010
Ichthyosis, X-linkedXLI308100STS30074710
IFAP syndrome with or without BRESHECK syndrome308205MBTPS230029410
IMAGE syndromeIMAGE614732CDKN1C6008567
Immunodeficiency, isolatedIMD33300584IKBKG3002487
Incontinentia pigmentiIP2308300IKBKG3002487
Insensitivity to pain, congenitalCIP243000SCN9A60341521
Insomnia, fatal familialFFI600072PRNP17664021
Insulin resistance, severe, digenicFPLD3604367PPARG6014877
Intervertebral disc disease, susceptibility toIDD603932COL9A21202607
Intervertebral disc disease, susceptibility toIDD603932COL9A3120270
Intestinal pseudoobstruction, neuronalIPOX300048FLNA30001721
Invasive pneumococcal disease, recurrent isolated, 2IPD2300640IKBKG3002487
Iridogoniodysgenesis, type 2IRID2137600PITX26015427
Jackson-Weiss syndromeJWS123150FGFR113635014
Joubert syndrome 10JBTS10311200OFD1300170
Joubert syndrome 6610688TMEM67609884
Keratitis148190PAX660710814
Keratoderma, palmoplantar, with deafness148350GJB2 (Cx26)1210117
Keratosis follicularis spinulosa decalvans, X-linkedKFSDX308800MBTPS230029410
Keratosis palmoplantaris striata IIIPPKS3607654KRT113935010
Keutel syndromeKTLS245150MGP1548707
Klippel-Feil syndrome 3, autosomal dominantKFS3613702GDF36065227
Kniest dysplasia156550COL2A112014025
Krabbe diseaseGALC245200GALC60689014
L-ferritin deficiency, dominant and recessiveLFTD615604FTL1347907
Lactase persistance/nonpersistance223100MCM66018067
LADD syndromeLADD149730FGFR217694314
LADD syndromeLADD149730FGFR313493414
Langer mesomelic dysplasiaLMD249700SHOX/SHOY3128657
Laron dwarfism262500GHR60094610
Larsen syndromeLRS150250FLNB60338125
Lateral meningocele syndromeLMNS130720NOTCH360027618
Leber congenital amaurosis 1LCA1204000GUCY2D60017914
Leber congenital amaurosis 7LCA7613829CRX602225
Leber Optic AtrophyLHON535000mit MTND1, MTND4, MTND6, MTCYB7
Legg-Calve-Perthes diseaseLCPD150600COL2A112014025
Leigh syndromeLS256000COX1060212510
Leigh syndromeLS256000SURF11856207
Leiomyomatosis and renal cell cancerHLRCC150800FH13685014
LEOPARD syndrome 1LPRD1151100PTPN1117687614
LEOPARD syndrome 2LPRD2611554RAF116476014
LEOPARD syndrome 3LPRD3613707BRAF16475714
Leri-Weill DyschondrosteosisLWD; DCO127300SHOX/SHOY3128657
Lethal congenital contracture syndrome 5LCCS5615368DNM2602378
Leukocyte adhesion deficiency type 1LAD1116920ITGB260006514
Leukodystrophy, hypomyelinating, 2HLD2608804GJC2608803
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or Hypogonadotropic hypodonadismHDL7607694POLR3A61425821
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or Hypogonadotropic hypodonadismHLD8614381POLR3B61436621
Leukoencephalopathy with ataxiaLKPAT615651CLCN260057018
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationLBSL611105DARS261095614
Leukoencephalopathy, diffuse hereditary, with spheroidsHDLS221820CSF1R16477018
Li-Fraumeni SyndromeLFS1151623TP531911707
Li-Fraumeni syndromeLFS2609265CHEK26043737
Liddle syndromeLIDLS177200SCNN1B60076014
Liddle syndromeLIDLS177200SCNN1G60076114
Limb-mammary syndromeLMS604292TP6360327314
Lipodystrophy, congenital generalized, type 2CGL2269700BSCL26061587
Lipodystrophy, familial partial, 2FPLD2151660LMNA15033014
Lipodystrophy, familial partial, 3FPLD3604367PPARG6014877
Lipoprotein glomerulopathyLPG611771APOE1077413
Lissencephaly247200YWHAE60506621
Lissencephaly 1LIS1607432PAFAH1B16015457
Lissencephaly 2LIS2257320RELN60051428
Lissencephaly 3LIS3611603TUBA1A6025297
Lissencephaly 5LIS5615191LAMB115024021
Lissencephaly, X-linked 1LISX1300067DCX3001217
Lissencephaly, X-linked 2LISX2300215ARX3003827
Loeys-Dietz syndrome 1LDS1609192TGFBR11901817
Loeys-Dietz syndrome 2LDS2610168TGFBR219018210
Loeys-Dietz syndrome 3LDS3613795SMAD360310910
Loeys-Dietz syndrome 4LDS4614816TGFB21902207
Long QT syndrome 1LGT1192500KCNQ160754214
Long QT syndrome 2LQTS2613688KCNH215242714
Long QT syndrome 5LQTS5613695KCNE11762617
Long QT syndrome 6LQTS6613693KCNE26037967
Long QT syndrome 9LQT9611818CAV36012537
Long QT syndrome-3LQT3603830SCN5A6001637
Lowe syndromeOCRL309000OCRL130053521
Lujan Fryns syndrome309520MED123001887
LymphangioleiomyomatosisLAM606690TSC160528421
Macrocephaly/autism syndrome605309PTEN6017287
Macrothrombocytopenia and progressive sensorineural deafness153650MYH916077521
Macrothrombocytopenia, autosomal dominant, TUBB1-related613112TUBB16129017
Macular degeneration, age-related, 3ARMD3608895FBLN560458010
Macular degeneration, X-linked atrophic300834RPGR31261021
Macular dystrophy, patterned, 1MDPT1169150PRPH21796057
Macular dystrophy, vitelliform, 2VMD2153700BEST16078547
Macular dystrophy, vitelliform, 3VMD3608161PRPH21796057
Malignant hyperthermia susceptibility 1MHS1145600RYR118090114
Malouf syndrome212112LMNA15033014
Mandibuloacral dysplasiaMADA248370LMNA15033014
Mandibuloacral dysplasia with type B lipodystrophyMADB608612ZMPSTE246064807
Manitoba oculotrichoanal syndromeMOTA248450FREM1608944
Maple Syrup Urine Disease IaMSUD1A248600BCKDHA6083487
Maple Syrup Urine Disease IbMSUD1B248600BCKDHB24861110
Maple Syrup Urine Disease IIMSUD2248600DBT24861010
Marden-Walker syndromeMWKS248700PIEZO261362921
Marfan syndromeMFS1154700FBN113479728
Marinesco-Sjogren SyndromeMSS248800SIL16080057
MASA SYNDROME303350L1CAM30884018
MASS syndrome604308FBN113479728
Maturity Onset Diabetes of the YoungMODY11613375BLK191305
Maturity Onset Diabetes of the YoungMODY08609812CEL114840
Maturity Onset Diabetes of the YoungMODY02125851GCK138079
Maturity Onset Diabetes of the YoungMODY03600496HNF1A142410
Maturity Onset Diabetes of the YoungMODY05137920HNF1B189907
Maturity Onset Diabetes of the YoungMODY01125850HNF4A600281
Maturity Onset Diabetes of the YoungMODY10613370INS176730
Maturity Onset Diabetes of the YoungMODY07610508KLF11603301
Maturity Onset Diabetes of the YoungMODY04606932PDX1600733
Maturity-onset diabetes of the young 6MODY06606394NEUROD16017247
Maturity-onset diabetes of the young, type 13MODY13610582KCNJ116009377
Maturity-onset diabetes of the young, type IXMODY09612225PAX41674137
May-Hegglin AnomalyMHA155100MYH916077521
McArdle Disease (Glycogen storage disease V)GSD5232600PYGM6084557
McCune-Albright syndromeMAS174800GNAS1393207
McKusick-Kaufman syndromeMKKS236700MKKS6048967
Meacham syndrome608978WT160710214
Meckel syndrome 1MKS1249000MKS160988314
Medullary cystic kidney disease 2MCKD2603860UMOD19184510
Medullary thyroid carcinomaMTC155240RET16476118
MedulloblastomaMDB155255BRCA260018521
Megalencephalic Leukoenzephalopathy with subcortical cystsMLC1604004MLC160590810
Melanoma and neural system tumor syndrome155755CDKN2A6001607
Melanoma, cutaneous malignant, susceptibility to, 8CMM8614456MITF15684510
MELAS syndrome540000mit7
Melnick-Needles syndromeMNS309350FLNA30001721
Menkes diseaseMNK309400ATP7A30001121
Mental retardation, autosomal dominant 16MRD16614609SMC1L1 (SMC1A)30004018
Mental retardation, truncal obesity, retinal dystrophy, and micropenisMORM610156INPP5E61303710
Mental retardation, X-linked 19MRX19300844RPS6KA330007521
Mental retardation, X-linked syndromic, Christianson typeMRXSCH300243SlC9A630023114
Mental retardation, X-linked syndromic, Lubs typeMRXSL300260MECP23000057
Mental retardation, X-linked syndromic, Nascimento typeMRXSN300860UBE2A3121807
Mental retardation, X-linked, FRAXE typeFRAXE309548FMR23008067
Mental retardation, X-linked, syndromic 13MRXS13300055MECP23000057
Mental retardation, X-linked, with isolated growth hormone deficiency300123SOX33134307
MetachondromatosisMETCDS156250PTPN1117687614
Metachromatic leukodystrophyMLD250100ARSA60757410
Metatropic dysplasia156530TRPV460542714
Methylmalonic aciduria and homocystinuria, cbIC277400MMACHC6098317
Methylmalonic aciduria and homocystinuria, cbIF277380LMBRD161262510
Mevalonic aciduriaMEVA610377MVK25117010
Microcephaly 1, primary, autosomal recessiveMCPH1251200MCPH160711714
Microcephaly 2, primary, autosomal recessiveMCPH2604317WDR6260431721
Microcephaly 6, primary, autosomal recessiveMCPH6608393CENPJ60927914
Microphthalmia with coloboma 5MCOPCB5611638SHH6007257
Microphthalmia with coloboma 6MCOPCB6613703GDF36065227
Microphthalmia, isolated 5MCOP5611040MFRP60622710
Microphthalmia, isolated 7MCOP7613704GDF36065227
Microphthalmia, isolated, with coloboma 10MCOPCB10616428RBP41802507
Microphthalmia, isolated, with coloboma 7MCOPCB7614497ABCB660545221
Microphthalmia, syndromic 11MCOPS11614402VAX160429414
migraine, familial hemiplegic, 1FHM1108500CACNA1A60101128
Migraine, familial hemiplegic, 3FHM3609634SCN1A18238921
Miller syndromePOADS263750DHODH1260647
Miller-Dieker syndromeMDLS24720017p13.37
Mismatch repair cancer syndromeHNPCC2276300MLH112043614
Mismatch repair cancer syndromeMMRCS276300MSH260930914
Mismatch repair cancer syndromeMMRCS276300PMS260025914
Mismatch repair cancer syndromeMMRCS608089MSH660067814
Mitochondrial complex IV deficiency220110COX1060212514
Mitochondrial DNA depletion syndrome 4A (Alpers type)MTDPS4A203700POLG17476318
Mitochondrial DNA depletion syndrome 4B (MNGIE type)MTDPS4B203700POLG17476318
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)MTDPS5612073SUCLA260392110
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)MTDPS7271245C10ORF26060757
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)SANDO607459POLG17476318
Miyoshi muscular dystrophy 1MMD1254130DYSF60300925
Miyoshi muscular dystrophy 3MMD3613319ANO560866221
Mowat-WilsonMOWS235730ZEB26058027
Moyamoya disease 5MYMY5614042ACTA21026207
Muckle-Wells SyndromeMWS191900NLRP360641614
Mucopolysaccharidosis IhMPS1-H607015IDUA25280010
Mucopolysaccharidosis Ih/sMPS1-HS607015IDUA25280010
Mucopolysaccharidosis IIIBMPS3B252920NAGLU60970110
Mucopolysaccharidosis IsMPS1-S607016IDUA25280010
Mucopolysaccharidosis IVAMPS4A253000GALNS61222214
Mucopolysaccharidosis type IVB (Morquio)MPS4B253010GLB161145814
Muenke syndromeMNKES602849FGFR313493418
Muir-Torre syndromeMRTES158320MLH112043614
Muir-Torre syndromeMRTES158320MSH260930914
Mulibrey nanism605073TRIM3760507318
Mullerian aplasia and hyperandrogenism158330WNT46034907
Multiple endocrine Neoplasia 1MEN1131100MEN16137337
Multiple endocrine Neoplasia 2AMEN2A171400RET16476118
Multiple endocrine Neoplasia 2BMEN2B162300RET16476118
Multiple endocrine neoplasia, type IVMEN4610755CDKN1B600778
Multiple pterygium syndrome, lethal typeLMPS253290CHRNA11006907
Multiple synostosis syndrome 1SYNS1186500NOG6029917
Multiples Pterygium syndromeEVMPS265000CHRNG10073010
Multisystemic smooth muscle dysfunction syndrome613834ACTA21026207
Muscular dystrophy / dystroglycanopathy A1MDDGA1236670POMT160742314
Muscular dystrophy / dystroglycanopathy A3MDDGA3253280POMGNT160682214
Muscular dystrophy / dystroglycanopathy B1MDDGB1613155POMT160742314
Muscular dystrophy / dystroglycanopathy B3MDDGB3613151FKRP6065967
Muscular dystrophy / dystroglycanopathy B3MDDGB3613151POMGNT160682214
Muscular dystrophy / dystroglycanopathy C3MDDGC3613157POMGNT160682214
Muscular dystrophy BeckerBMD300376DMD30037728
Muscular dystrophy DuchenneDMD310200DMD30037728
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2MDDGA2613150POMT260743921
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MDDGA4253800FKTN60744010
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5MDDGA5613153FKRP6065967
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2LGMD2N613158POMT260743921
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3MDDGB3613151POMGNT160682214
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5MDDGB5606612FKRP6065967
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4MDDGB4613152FKTN607440
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2LGMD2N613158POMT260743921
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4MDDGC4611588FKTN607440
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5MDDGC5607155FKRP6065967
Muscular dystrophy, congenitalMDCL613205LMNA15033014
Muscular dystrophy, limb-girdle 1ALGMD1A159000MYOT60410310
Muscular dystrophy, limb-girdle 1BLGMD1B159001LMNA15033014
Muscular dystrophy, limb-girdle 1CLGMD1C607801CAV36012537
Muscular dystrophy, limb-girdle 2ALGMD2A253600CAPN311424021
Muscular dystrophy, limb-girdle 2BLGMD2B253601DYSF60300925
Muscular dystrophy, limb-girdle 2CLGMD2C253700SGCG6088967
Muscular dystrophy, limb-girdle 2DLGMD2D608099SGCA6001197
Muscular dystrophy, limb-girdle 2ELGMD2E604286SGCB6009007
Muscular dystrophy, limb-girdle 2FLGMD2F601287SGCD6014117
Muscular dystrophy, limb-girdle 2GLGMD2G601954TCAP6044887
Muscular dystrophy, limb-girdle 2KLGMD2K609308POMT160742314
Muscular dystrophy, limb-girdle, type 2LLGMD2L611307ANO560866221
Myasthenia gravis, neonatal transientEVMPS265000CHRNG10073010
Myasthenic syndrome, acetazolamide-responsiveCMS16614198SCN4A6039677
Myasthenic syndrome, asso. with episodic apneaCMS1A2254210CHAT11849014
Myasthenic syndrome, congenital, 10CMS10254300DOK76102857
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiencyCMS11616326RAPSN6015927
Myasthenic syndrome, congenital, 1A, slow-channelCMS1A601462CHRNA11006907
Myasthenic syndrome, congenital, 1B, fast-channelCMS1B608930CHRNA11006907
Myasthenic syndrome, congenital, 4A, slow-channelCMS4A605809CHRNE1007257
Myasthenic syndrome, congenital, 4B, fast-channelCMS4B616324CHRNE1007257
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiencyCMS4C608931CHRNE1007257
MyocarinfarctiondialMCI1608446ITGB31734703
Myoclonic epilepsy with red ragged fibersMERRF545000MTTK5900607
Myoclonic epilepsy, juvenile, susceptibility to, 1EJM1254770EFHC160881510
Myoglobinuria, acute recurrent, autosomal recessiveARARM268200LPIN160551814
Myopathy due to CPT II deficiency255110CPT260065010
Myopathy due to myoadenylate deaminase deficiencyMMDD102770AMPD110277018
Myopathy, centronuclearCNM1160150DNM2602378
Myopathy, distal, Tateyama typeMPDT614321CAV36012537
Myopathy, distal, with anterior tibial onsetDMAT606768DYSF60300921
Myotonic dystrophy IDM1160900DMPK6053777
Myxoma, intracardiac255960PRKAR1A1888307
Nail-patella syndromeNPS161200LMX1B602575
Nanophthalmos 2NNO2609549MFRP60622710
Nemaline myopathy 4NEM4609285TPM21909907
Nephrogenic syndrome of inappropriate antidiuresisNSIAD300539AVPR2300538
Nephrotic syndrome, type 1NPHS1256300NPHS160271621
Nephrotic syndrome, type 4NPHS4256370WT160710210
Neural tube defectsNTD182940VANGL16101327
Neural tube defects, susceptibility toNTDFS236250MTHFR6070933
Neuroaxonal dystrophy, infantile 1INAD1256600PLA2G660360414
Neurodegeneration with brain iron accumulation 1NBIA1234200PANK26061577
Neurodegeneration with brain iron accumulation 4NBIA4614298C19orf126142977
Neurofibromatosis INF1162200NF161311321
Neuropathy, congenital hypomyelinatingCHN605253EGR21290107
Neuropathy, distal hereditary motor, type IIAHMN2A158590HSPB86080147
Neuropathy, distal hereditary motor, type IIBHMN2B608634HSPB16021952
Neuropathy, distal hereditary motor, type VAHMN5A600794BSCL26061587
Neuropathy, distal hereditary motor, type VAHMN5A600794GARS60028714
Neuropathy, distal hereditary motor, type VIIBHMN7B607641DCTN160114321
Neuropathy, hereditare sensory and autonomic IIHSAN2201300WNK16052327
Neuropathy, hereditary sensory and autonomic IHSAN1A162400SPTLC16057127
Neuropathy, hereditary sensory and autonomic, type VIIHSAN7615548SCN11A60438521
Neuropathy, hereditary sensory, type IDHSANID182600SPG3A60643914
Neuropathy, hereditary, with or without age-related macular degenerationHNARMD608895FBLN560458010
Neuropathy, inflammatory demyelinatingAIDP139393PMP226010977
Neutropenia, severe congenitalSCNX300299WAS30039210
Niemann Pick disease C1/DNPC1257220NPC160762321
Nijmegen breakage syndromeNBS251260NBN6026677
Noonan syndrome 1NS1163950PTPN1117687614
Noonan syndrome 3NS3609942KRAS1900707
Noonan syndrome 4NS4610733SOS118253021
Noonan syndrome 5NS5611553RAF116476014
Noonan syndrome 6NS6613224NRAS1647907
Noonan syndrome 7NS7613706BRAF16475714
Norrie diseaseND310600NDP3006587
Obesity with impaired prohormone processing600955PCSK116215014
Obesity, adrenal insufficiency, and red hair due to POMC deficiency609734POMC1768307
Obesity, autosomal dominant601665MC4R1555417
Obesity, early-onset, susceptibility toOBESITY601665POMC1768307
Obesity, morbid, due to leptin deficiencyLEPD601665LEP1641607
Obesity, morbid, due to leptin receptor deficiency601007LEPR60100714
Obesity, severe601665PPARG6014877
Obesity, severe, and type II diabetes601665UCP36020447
Obesity, severe, susceptibility to,601665CARTPT6026067
Obesity, severe, susceptibility to, BMIQ9BMIQ9602025MC3R1555407
Obesity, susceptibility to, BMIQ12BMIQ12600955PCSK116215014
Obesity, susceptibility to, BMIQ4BMIQ4607447UCP26016937
Occipital horn syndromeOHS304150ATP7A30001121
Ocular albinism type 1, Ocular albinism X-LinkedOA1300500GPR1433005007
Oculodentodigital dysplasiaODDD164200GJA11210147
Oculopharyngeal muscular dystrophyOPMD164300PABPN16022797
Odontoonychodermal dysplasiaOODD257980WNT10A6062687
Ohdo syndrome, X-linkedOHDOX300895MED123001887
Oligodontia-colorectal cancer syndromeODCRCS608615AXIN260402514
Ophthalmoplegia, progressive external 1PEOA1157640POLG17476318
Opitz GBBB syndromeGBBB1300000MID13005527
Opitz-Kaveggia syndromeOKS305450MED123001887
Optic atrophy 3 with cataractOPA3165300OPA36065807
Optic atrophy 7 (OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7)OPA7612989TMEM126A6129887
Optic atrophy 9OPA9616289ACO210085014
Optic atrophy plus syndromeDOA+125250OPA160529021
Optic nerve hypoplasia165550PAX660710814
Orofacial cleft 5OFC5608874MSX11429837
Orofacial cleft 6OFC6608864IRF66071997
Orofaciodigital syndrome IOFD1311200OFD1300170
Osseous heteroplasia, progressivePOH166350GNAS13932018
Osteoarthritis with mild chondrodysplasia604864COL2A112014025
Osteochondromas, multiple 2EXT2133701EXT260821014
Osteogenesis imperfecta IOI1166200COL1A112015021
Osteogenesis imperfecta IIOI2166210COL1A112015021
Osteogenesis imperfecta IIOI2166210COL1A212016021
Osteogenesis imperfecta IIIOI3259420COL1A112015021
Osteogenesis imperfecta IIIOI3259420COL1A212016021
Osteogenesis imperfecta IVOI4166220COL1A112015021
Osteogenesis imperfecta IVOI4166220COL1A212016021
Osteoglophonic dysplasiaOGD166250FGFR113635014
Osteopetrosis, autosomal dominant 1OPTA1607634LRP560350621
Osteoporosis-pseudoglioma syndromeOPPG259770LRP560350621
Osteoses, multiple 1EXT1133700EXT160817714
Otofaciocervical syndromeOFC1166780EYA160165310
Otopalatodigital syndrome, type IOPD1311300FLNA30001721
Otopalatodigital syndrome, type IIOPD2304120FLNA30001721
Otospondylomegaepiphyseal dysplasiaOSMED215150COL2A112014025
Palmoplantar keratoderma with congenital alopeciaODDD104100GJA11210147
Palmoplantar keratoderma, epidermolyticEPPK607654KRT113935010
Palmoplantar keratoderma, nonepidermolyticNEPPK600962KRT113935010
Pancreatic agenesisPAGEN260370PDX16007337
Pancreatic cancer 2PNCA2613347BRCA260018521
Pancreatic cancer, susceptibility to, 3PNCA3613348PALB261035514
Pancreatic cancer, susceptibility to, 4PNCA4614320BRCA111370521
Pancreatic cancer/melanoma syndromeFAMMMPC606719CDKN2A6001607
PancreatitisPCTT167800CPA111485010
PancreatitisPCTT167800CTRC6014057
PancreatitisPCTT167800CTRL1188887
PancreatitisPCTT167800PRSS12760007
PancreatitisPCTT167800SPINK11677907
Panhypopituitarism, X-linkedPHPX312000SOX33134307
Panic disorder, susceptibility toPAND1167870COMT1167907
Paraganglioma and gastric stromal sarcoma606864SDHB1854707
Paraganglioma and gastric stromal sarcoma606864SDHC6024137
Paragangliomas 3PGL3605373SDHC6024137
Paragangliomas 4PGL4115310SDHB1854707
Paramyotonia congenitaPMC168300SCN4A60396721
Parastremmatic dwarfism168400TRPV460542714
Parkinson disease 14PARK14612953PLA2G660360418
Parkinson disease 2PARK2600116PARK260254410
Parkinson disease 8PARK8607060LRRK26090077
Parkinson disease, susceptibility toPD168600MAPT1571407
Paroxysmal extreme pain disorderPEXPD167400SCN9A60341521
Paroxysmal nonkinesigenic dyskinesiaPNKD1118800PNKD160902310
Partington syndromePRTS309510ARX3003827
Pelizaeus Merzbacher diseasePMD312080PLP13004017
Pendred syndromePDS274600SLC26A460564614
Periodic Fever, familial, autosomal-dominantTRAPS142680TNFRSF1A19119010
Peripheral neuropathy, myopathy, hoarseness, and hearing lossPNMHH614369MYH146085687
Peroxisome biogenesis disorder 1A (Zellweger)PBD1A214100PEX16021367
Peroxisome biogenesis disorder 1BPBD1B601539PEX16021367
Peroxisome biogenesis disorder 3A (Zellweger syndrome)PBD3A614859PEX126017587
Peroxisome biogenesis disorder 3BPBD3B266510PEX126017587
Peroxisome biogenesis disorder 9BPBD9B614879PEX760175710
Perrault syndrome 5PRLTS5616138C10ORF26060757
Perry Syndome168605DCTN160114321
Persistent Mullerian duct syndrome, type IPMDS261550AMH6009577
Persistent Mullerian duct syndrome, type IIPMDS261550AMHR26009560
Peters anomaly604229CYP1B16017717
Peters anomaly604229PAX66071087
Peters anomaly604229PITX26015427
Peters anomaly604229PITX26015427
Peters-plus syndrome261540B3GALTL61030814
Peutz-Jeghers syndromePJS175200STK116022167
Pfeiffer syndrome101600FGFR113635014
Pheochromocytoma171300GDNF6008377
Pheochromocytoma171300MAX1549507
Pheochromocytoma171300RET16476118
Pheochromocytoma171300SDHA60085710
Pheochromocytoma171300SDHB1854707
Pheochromocytoma171300SDHC6024137
Pheochromocytoma171300TMEM1276134037
Pheochromocytoma171300VHL6085377
Pick disease172700MAPT1571407
Pick disease172700PSEN110431110
PIEBALDISMPBT172800KIT164920
PIEBALDISMPBT172800SNAI26021507
Pigmented nodular adrenocortical disease, primary, 1PPNAD1610489PRKAR1A1888307
Pitt-Hopkins syndromePTHs610954TCF460227218
Pituitary hormone deficiency, combined 5CPHD5182230HESX16018027
Pituitary hormone deficiency, combined, 1CPHD1613038POU1F11731107
Pituitary hormone deficiency, combined, 2CPHD2262600PROP16015387
Pituitary hormone deficiency, combined, 4CPHD4262700LHX46021467
Plasminogen activator inhibitor-1 deficiencyPAI1173360SERPINE11733607
Platyspondylic skeletal dysplasia, Torrance typePLSDT151210COL2A112014025
Polyglucosan body disease, adult formAPBD263570GBE160783914
Polymicrogyria, bilateral frontoparietal606854GPR546041107
Polymicrogyria, bilateral occipital612691FIG460939018
Pontocerebellar hypoplasia type 2APCH2A277470TSEN5460875514
Pontocerebellar hypoplasia type 4PCH4225753TSEN5460875514
Pontocerebellar hypoplasia type 5PCH5610204TSEN5460875514
Pontocerebellar hypoplasia, type 1APCH1A607596VRK160216810
Pontocerebellar hypoplasia, type 1BPCH1B614678EXOSC36064897
Porokeratosis 3, disseminated superficial actinicPOROK3175900MVK25117010
Porphyria, acute hepaticALAD-Porphyrie612740ALAD1252707
Porphyria, acute intermittentAIP176000HMBS60980610
Porphyria, congenital erythropoieticCEP263700UROS6069387
Prader-Willi syndromePWS17627015q11-q137
Pregnancy loss, recurrent, susceptibility to, 2RPRGL2614390F217693010
Premature ovarian failure 1POF1311360FMR13095507
Premature ovarian failure 3POF3608996FOXL26055977
Premature ovarian failure 7POF7612964NR5A11847577
Primary lateral sclerosis, juvenilePLSJ606353ALS260635221
Prion disease with protracted course606688PRNP1766407
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3PEOA3609286C10ORF26060757
Progressive external ophthalmoplegia, autosomal recessive 1PEOB1258450POLG17476318
Progressive pseudorheumatoid arthropathy of childhoodPPAC208230WISP36034007
Propionicacidemia606054PCCA23200018
Propionicacidemia606054PCCB23205014
Prostate cancerPNCA2176807BRCA260018521
Protoporphyria variegataVP176200PPOX60092310
Protoporphyria, erythropoietic, X-linkedEPP300752ALAS230130010
Proud syndrome300004ARX3003827
PseudoachondroplasiaPSACH177170COMP60031014
Pseudohyperkalemia, familial, 2, due to red cell leakPSHK2609153ABCB660545221
Pseudohypoaldosteronism type I, autosomal dominantPHA1A177735NR3C260098310
Pseudohypoaldosteronism type IIBPHA2B614491WNK460184418
Pseudohypoaldosteronism, Type 1, autosomal recessivePHA1B264350SCNN1A60022814
Pseudohypoaldosteronism, Type 1, autosomal recessivePHA1B264350SCNN1B60076014
Pseudohypoaldosteronism, Type 1, autosomal recessivePHA1B264350SCNN1G60076114
Pseudohypoaldosteronism, type IICPHA2C614492WNK16052327
Pseudohypoaldosteronism, type IIDPHA, IID614495KLHL361449514
Pseudohypoaldosteronism, type IIEPHAIIE614496CUL360313614
Pseudohypoparathyroidism IaPHP1A103580GNAS13932018
Pseudohypoparathyroidism IbPHP1B603233GNAS13932018
Pseudohypoparathyroidism IcPHP1C612462GNAS13932018
PseudopseudohypoparathyroidismPPHP612463GNAS13932018
Pyridoxamine-5'-Phospahte Oxidase DeficiencyPNPO610090PNPO6032877
Rapp-Hodgkin syndrome129400TP6360327314
Refsum disease266500PHYH6020267
Renal agenesisRHDA1191830RET16476118
Renal cysts and diabetes syndromeRCAD137920HNF1B1899077
Renal glucosuriaGLYS233100SLC5A218238114
Renal tubular acidosis, distal, ARRTA611590SLC4A110927018
Restrictive dermopathy, lethal275210LMNA15033014
Retinitis pigmentosa 1RP1180100RP160393714
Retinitis pigmentosa 13RP13600059PRPF860730018
Retinitis pigmentosa 18RP18601414HPRP360730110
Retinitis pigmentosa 23RP23300424OFD1300170
Retinitis pigmentosa 3RP3300029RPGR31261021
Retinitis pigmentosa 37RP37611131NR2E36044857
Retinitis pigmentosa 4, autosomal dominant or recessiveRP4613731RHO1803807
Retinitis pigmentosa 68RP68615725SLC7A146157207
Retinitis pigmentosa 7RP7600132PRPH21796057
Retinitis pigmentosa 74RP74616562BBS260615114
Retinitis pigmentosa-50RP50613194BEST160785410
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness300455RPGR31261021
Retinitis punctata albescens136880PRPH21796057
Retinitis punctata albescens136880RHO1803807
Retinol dystrophy, iris coloboma, and comedogenic acne syndromeRDCCAS615147RBP41802507
Retinoschisis1, X-linked, juvenileRS1312700RS13008397
Rett syndromeRTT312750MECP23000057
Rhabdoid tumor predisposition syndrome 2RTPS2613325SMARCA460325421
Rhizomelic chondrodysplasia punctata, type 2GNPAT222765GNPAT60274414
Rickets, vitamin D-resistant IIAVDDR2A277440VDR60176910
Rippling muscle diseaseRMD606072CAV36012537
Robinow syndromeRRS268310ROR260233710
Roussy-Levy syndrome180800MPZ1594407
Roussy-Levy syndrome180800PMP226010977
Rubinstein-Taybi syndromeRSTS1180849CREBBP60014021
Rubinstein-Taybi syndrome 2RSTS2613684EP30060270021
SADDANSADDAN616482FGFR313493414
Saethre-Chotzen syndromeSCS101400FGFR217694314
Sandhoff disease, infantile, juvenile, and adult formsOS268800HEXB60687314
Scaphocephaly, maxillary retrusion, and mental retardation609579FGFR217694314
Scapuloperoneal spinal muscular atrophySPSMA181405TRPV460542714
Schaaf-Yang syndromeSHFYNG615547MAGEL260528310
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaicSFM163200HRAS1900207
Schizencephaly269160EMX26000357
Schizencephaly269160SHH6007257
Schizencephaly269160SIX36037147
Schizophrenia, susceptibility toSCZD181500COMT1167907
Schopf-Schulz-Passarge syndromeSSPS224750WNT10A6062687
Schwannomatosis162091NF260737921
Sebastian syndromeSBS605249MYH916077521
Seckel syndrome 4SCKL4613676CENPJ60927921
SED congenitaSEDC183900COL2A112014025
Segawa syndrome, recessive605407TH19129010
Seizures, benign familial infantile 2BIFS2605751PRRT26143867
Seizures, benign familial infantile 3BFIS3607745SCN2A18239021
Seizures, benign neonatal, type 2BFNS2121201KCNQ360223214
Seizures, scoliosis, and macrocephaly syndromeSSMS616682EXT260821014
Septooptic DysplasiaSOD182230HESX16018027
SERKAL syndrome158330WNT46034907
Short QT syndrome 2SQT2609621KCNQ160754214
Short QT syndrome 3SQT3609622KCNJ26006817
Short QT syndrome-1SQT1609620KCNH215242714
Short stature, idiopathic familialISS300582SHOX/SHOY3128657
Sick sinus syndrome 1SSS1608567SCN5A6001637
Sickle cell anemia603903HBB1419007
Silver spastic paraplegia syndromeSPG17270685BSCL26061587
Simpson-Golabi-Behmel syndromeSGBS1312870GPC330003710
Simpson-Golabi-Behmel syndromeSGBS1312870GPC33000377
Simpson-Golabi-Behmel syndrome, type 2SGBS2300209OFD1300170
SMED Strudwick typeSEMDSTWK184250COL2A112014025
Smith-Lemli-Opitz syndromeSLOS270400DHCR76028587
Smith-Magenis syndromeSMS182290RAI160658614
Sneddon syndrome182410CECR160757514
Sotos syndromeSOTOS1117550NSD160668121
Sotos syndromeSOTOS1117550NSD16066817
SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVESACS270550SACS6044907
Spastic paralysis, infantile onset ascendingIAHSP607225ALS260635221
Spastic paraplegia 11, autosomal recessiveSPG11604360SPG1161084421
Spastic Paraplegia 2SPG2312920PLP13004017
Spastic Paraplegia 3ASPG3A182600SPG3A60643914
Spastic Paraplegia 4SPG4182601SPG460427718
Spastic paraplegia 43, autosomal recessiveSPG43615043C19orf126142977
Spastic paraplegia 7, autosomal recessiveSPG7607259SPG760278314
Spastic paraplegia type 31SPG31610250REEP16091397
Spermatogenic failure 8SPGF8612965NR5A11847577
Spermatogenic failure, nonobstructive, Y-linkedSPGFY2415000AZF4150007
Spherocytosis, 4SPH4612653SLC4A110927014
Spherocytosis, type 1SPH1182900ANK161264121
Spina bifidaNTD182940VANGL26005337
SpIna muscular atrophy 1-3SMA 1-3253300SMN16003547
Spina muscular atrophy, late-onset, Finkel type605704VAPB6057047
Spinal and bulbar muscular atrophySBMA313200AR3137007
Spinal muscular atrophy 1-3SMA 1-3253300SMN16003547
Spinal muscular atrophy, distal, congenital nonprogressiveHMN8313200TRPV460542714
Spinal Muscular Atrophy, distal, X-linked 3SMAX3300489ATP7A30001121
Spinocerebellar Ataxia 01SCA1164400ATXN16015567
Spinocerebellar Ataxia 02SCA2183090ATXN26015177
Spinocerebellar Ataxia 03SCA3 / MJD109150ATXN36070477
Spinocerebellar Ataxia 05SCA5600224SPTBN26049857
Spinocerebellar Ataxia 06SCA6183086CACNA1A6010117
Spinocerebellar Ataxia 07SCA7164500ATXN76076407
Spinocerebellar Ataxia 08SCA8608768ATXN8OS6036807
Spinocerebellar Ataxia 10SCA10603516ATXN106111507
Spinocerebellar Ataxia 11SCA11604432TTBK26116957
Spinocerebellar Ataxia 12SCA12604326PPP2R2B6043257
Spinocerebellar Ataxia 13SCA13605259KCNC31762647
Spinocerebellar Ataxia 14SCA14605361PRKCG1769807
Spinocerebellar Ataxia 14SCA14605361PRKCG17698014
Spinocerebellar Ataxia 15SCA15606658ITPR11472657
Spinocerebellar Ataxia 17SCA17607136TBP6000757
Spinocerebellar ataxia 19SCA19, SCA22607346KCND360541110
Spinocerebellar Ataxia 23SCA23610245PDYN1313407
Spinocerebellar Ataxia 27SCA27609307FGF146015157
Spinocerebellar Ataxia 28SCA28610246AFG3L26045817
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal RecessiveSCAN1607250TDP16071987
Spinocerebellar Ataxia, autosomal recessive 1SCAR1606002SETX60846521
Spinocerebellar ataxia, autosomal recessive 10SCAR10613728ANO106137267
Spinocerebellar ataxia, autosomal recessive 14SCAR14615386SPTBN2604985
Spinocerebellar ataxia, autosomal recessive 7SCAR7609270TPP160799810
Spondylocarpotarsal synostosis syndromeSCT272460FLNB60338125
Spondyloepimetaphyseal dysplasiaSEMD608728MATN36021097
Spondyloepiphyseal dyspalsia, Maroteaux typeSED184095TRPV460542714
Spondyloepiphyseal dysplasia with congenital joint dislocation143095CHST36037997
Spondylometaphyseal dysplasia, Kozlowski typeSMDK184252TRPV460542714
Spondyloperipheral dysplasiaSEMDSTWK271700COL2A112014025
Stapes ankylosis with broad thumb and toes184460NOG6029917
Stickler syndrome, type I108300COL2A11201402
Stickler syndrome, type I, nonsyndromic ocular609508COL2A112014025
Stickler syndrome, type IVSTL4614134COL9A11202107
Stickler syndrome, type VSTL5614284COL9A21202607
Stiff skin syndromeSSKS184900FBN113479728
Stomatin-deficient cryohydrocytosis with neurologic defectsSDCHCN608885SLC2A113814010
Stroke, ischemic, susceptibility to601367F217693010
Stroke, ischemic, susceptibility to601367F56123093
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromeSTWS601559LIFR15144318
Subcortical laminal heteropia, X-linkedSCLH300067DCX3001217
Succinic semialdehyde dehydrogenase deficiencySSADHD271980ALDH5A161004510
Sudden infant death syndrome, susceptibility toSIDS272120SCN5A60016321
Supranuclear palsy, progressivePSNP1601104MAPT1571407
Supranuclear palsy, progressive atypical172700MAPT1571407
Susceptibility to Breast and Colorectal Cancer114480CHEK26043737
Symphalangism, proximalSYM1185800NOG6029917
Syndactyly, type IIISDTY3186100GJA11210147
Syndactyly, type VBDD186300HOXD131429897
Synpolydactyly, type IISPD1186000HOXD131429897
Tarsal-carpal coalition syndromeTCC186570NOG6029917
Tay-Sachs syndromeTSD272800HEXA60686914
Telangiectasia, hereditary hemorrhagic, type 1HHT1187300ENG13119514
Telangiectasia, hereditary hemorrhagic, type 2HHT2600376ACVRL16012847
Terminal osseous dysplasiaTOD300244FLNA30001721
Tetralogy of FallotTOF187500JAG160192021
Thanatophoric dysplasia, type ITD1187600FGFR313493418
Thanatophoric dysplasia, type IITD2187601FGFR313493418
Thiopurin S-Methyltransferase deficiency610460TPMT1876803
Thrombocythemia 3THCYT3614521JAK214779621
Thrombocytopenia 1THC1313900WAS30039210
Thrombocytopenia 4THC4612004CYCS1239707
Thrombocytopenia with beta-thalassemia, X-linkedXLTT314050GATA13053717
Thrombocytopenia-2THC2188000MASTL60822110
Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaXLTDA300367GATA13053717
Thromboembolism, susceptibility toTHPH1188050MTHFR6070933
Thrombophilia due to thrombin defectTHPH1188050F217693010
Thrombophilia, susceptibility to, due to factor V LeidenTHPH2188055F56123097
Thyroid DyshomogenesisTDH1274400SLC5A560184321
Thyroid dyshormonogenesis 2ATDH2A606765TPO27450014
Thyroid hormone resistancePRTH, GRTH188570THRB1901607
Thyroid hormone resistance, autosomal recessive274300THRB1901607
Thyroid hormone resistance, selective pituitary145650THRB1901607
Tooth agenesis, selective, 1STHAG1106600MSX11429837
Tooth agenesis, selective, 3STHAG3604625PAX91674167
Tooth agenesis, selective, 4STHAG4150400WNT10A6062687
Tooth agenesis, selective, X-linked 1STHAGX1313500EDA30045110
Townes-Brokes syndromeTBS107480SALL160221810
Treacher Collins-Franceschatti syndromeTCS1154500TCOF160684718
TREMOR, HEREDITARY ESSENTIAL, 1; ETM1190300LRRN6A (LINGO1)609791
Tremor, hereditary essential, 4ETM4614782FUS13707014
Trichorhinophalangeal syndrome, type ITRPS1190350TRPS160438614
Trichorhinophalangeal syndrome, type IIITRPS3190651TRPS160438614
TrichotillomaniaTTM613229SLITRK16096780
Trigonocephaly 1TRIGNO1190400FGFR113635014
Trigonocephaly 2TRIGNO2614485FREM1608944
TrimethylaminuriaTMAU602079FMO31361327
Tropical calcific pancreatitisTCP608189SPINK11677907
Troyer syndromeSPG20275900SPG2060711114
Tuberous sclerosis 1TSC1191100TSC160528421
Tuberous sclerosis 2TSC2191100TSC219109221
Tumoral calcinosis, hyperphosphatemic, familialHFTC211900FGF236053807
Ulna and fibula, absence of, with sever limb deficiency276820WNT7A6015707
Ulnar-Mammary SyndromUMS181450TBX360162110
Usher Syndrome 1BUSH1276900MYO7A27690321
UV-sensitive syndrome 1UVSS1133540ERCC660941321
UV-sensitive syndrome 2UVSS2614621ERCC860941210
van Buchem disease, type 2VBCH2607636LRP560350618
Van Den Ende-Gupta syndrome - VDEGSVDEGS600920SCARF261361910
van der Woude syndromeVWS119300IRF66071997
Vasculopathy, retinal, with cerebral leukodystrophyRVCL192315TREX16066097
VATER association with macrocephaly and ventriculomegalyVACTERL-H276950PTEN6017287
Velocardialfacial syndromeVCFS19243022q11.21884007
Ventricular fibrillation, familial, 1VF1603829SCN5A6001637
Ventricular tachycardia, catecholaminergic polymorphic, 1CPVT1604772RYR218090210
Vitamin D-dependent rickets, type IVDDR1A264700CYP27B16095067
VitreoretinochoroidopathyVRCP193220BEST16078547
Vitreoretinopathy, neovascular inflammatoryVRNI193235CAPN5602537
VLCAD definiciencyACADVLD201475ACADVL60957514
Vohwinkel syndrome124500GJB2 (Cx26)1210117
Von Hippel-Lindau syndromeVHL193300VHL6085377
von Willebrand disease, platelet-typeVWDP177820GP1BA6066727
Waardenburg SyndromeWS2A193510MITF15684510
Waardenburg syndrome, type 1WS1193500PAX360659710
Waardenburg Syndrome, TYPE 2EWS2E611584SOX106022297
Waardenburg syndrome, type 3WS3148820PAX360659710
Waardenburg syndrome, type 4AWS4A277580EDNRB1312447
Waardenburg syndrome, type 4BWS4B613265EDN31312427
Waardenburg syndrome, type 4CWS4C613266SOX106022297
Waardenburg syndrome/albinismWS2-OA103470TYR6069337
Waardenburg syndrome/ocular albinism, digenicWS2A103470MITF15684510
Waardenburg-Syndrome, type 2DWS2D608890SNAI26021507
Watson syndromeWTSN193520NF161311321
Weill-Marchesani syndrome 2, dominantWMS2608328FBN113479728
West syndromeEIEE1308350ARX3003827
Wiedemann-Steiner sydromeWDSTS605130KMT2A159555
Williams-Beuren syndromeWBS1940507q11.27
Wilms tumorWT1194070BRCA260018521
Wilms tumorWT1194070WT160710210
Wilson diseaseWD277900ATP7B6068827
Wilson-Turner syndromeWTS309585HDAC830026910
Wiskott-Aldrich syndromeWAS301000WAS30039210
Yunis-Varon syndromeYVS216340FIG460939018