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Liste der angebotenen Gene/Erkrankungen

Sie können auf Englisch nach Krankheitsnamen, nach Genen oder nach gOMIM und pOMIM suchen.
Erkrankung
(englisch, OMIM basiert) 		Abkürzung
Erkrankung/
Subtyp 		Diagn. OMIM Gen-Symbol Gen OMIM ~ Dauer
(Tage)
3-hydroxyacyl-CoA dehydrogenase deficiency HADH 231530 HAD 601609 7
3-M syndrome 1 3M 273750 CUL7 609577 21
3-methylglutaconic aciduria, type III MGCA3 258501 OPA3 606580 7
46XX sex reversal 1 SRXX1 400045 SRY 480000 7
46XY partial gonadal dysgenesis, with minifascicular neuropathy 607080 DHH 605423 7
46XY sex reversal 1 SRXY1 400044 SRY 480000 7
46XY sex reversal 3 SRXY3 612965 NR5A1 184757 7
46XY sex reversal 7 SRXY7 233420 DHH 605423 7
ABCD syndrome ABCDS 600501 EDNRB 131244 7
Abetalipoproteinemia ABL 200100 MTP 157147 14
Achondrogenesis Ib ACG1B 600972 SLC26A2 606718 7
Achondrogenesis, type II or hypochondrogenesis ACG2 200610 COL2A1 120140 25
Achondroplasia ACH 100800 FGFR3 134934 14
Acne inversa, familial, 3 ACNINV3 613737 PSEN1 104311 10
Acrodysostosis 1, with or without hormone resistance ADOHR 101800 PRKAR1A 188830 7
Acrokeratosis verruciformis AKV 101900 ATP2A2 108740 14
Acromicric dysplasia ACMICD 102370 FBN1 134797 28
ACTH-independent macronodular adrenal hyperplasia AIMAH 219080 GNAS 139320 14
Acyl-CoA dehydrogenase, medium chain, deficiency of MCAD 201450 ACADM 607008 10
Adenomas, multiple colorectal FAP2 608456 MUTYH 604933 14
Adenomatous polyposis coli FAP1 175100 APC 611731 21
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 CYP11B1 610613 7
Adrenal hyperplasia, congenital, due to 17-hydroxylase deficiency 202110 CYP17A1 609300
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency CAH 608089 CYP21A2 613815 10
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism AHC 300200 NR0B1 300473 7
Adrenoleukodystrophy/Adrenomyeloneuropathy ALD 300100 ABCD1 300371 14
ADULT syndrome ADULT 103285 TP63 603273 7
Afibrinogenemia, congenital 202400 FGA 134820 10
Afibrinogenemia, congenital 202400 FGB 134830 7
Afibrinogenemia, congenital 202400 FGG 134850 7
Agammaglobulinemia, X-linked 1 XLA 300755 BTK 300300 14
Aicardi-Goutieres syndrome 1 AGS1 225750 TREX1 606609 7
Aicardi-Goutieres syndrome 6 AGS6 615010 ADAR 146920 18
Alagille syndrome 1 ALGS1 118450 JAG1 601920 16
Alagille syndrome 2 ALGS2 610205 NOTCH2 600275 21
Albinism, oculo cutaneous, type VI OCA6 113750 SLC24A5 609802 7
Albinism, oculocutaneous IA OCA1A 203100 TYR 606933 7
Albinism, oculocutaneous II OCA2 203200 OCA2 611409 3
Albinism, oculocutaneous IV OCA4 606574 SLC45A2 606202 7
Albinism, oculocutaneous, type III OCA3 203290 TYRP1 115501
Albinism, oculocutaneous, type VII OCA7 615179 C10ORF11 614537 7
Aldosteronism, glucocorticoid-remediable GRA 103900 CYP11B1 610613 7
Alexander disease ALXDRD 203450 GFAP 137780 10
Allan-Herndon-Dudley syndrome AHDS 300523 SLC16A2 300095 7
Alpha-1-Antitrypsin deficiency 613490 SERPINA1 107400 7
Alpha-Thalassemia 604131 HBA 141800 7
Alport syndrome , X-linked ATS 301050 COL4A5 303630
Alport syndrome, autosomal dominant 104200 COL4A3 120070
Alport syndrome, autosomal recessive 203780 COL4A4 120131
Alternating hemiplegia of childhood 2 AHC2 614820 ATP1A3 182350 18
Alzheimer disease, type 3 AD3 607822 PSEN1 104311 10
Amelogenesis imperfecta IB AI1B 104500 ENAM 606585 14
Amelogenesis imperfecta IC AI1C 204650 ENAM 606585 14
Amelogenesis imperfecta IIA1 AI2A1 204700 KLK4 603767 7
Amelogenesis imperfecta III AI3 130900 FAM83H 611927 10
Amyloidosis 105200 APOA1 107680 7
Amyloidosis, familial 105200 FGA 134820 10
Amyloidosis, Finnish type -Familial amyloid polyneuropathy type 4 105120 GSN 137350 14
Amyloidosis, hereditary, Transthyretin-related 105210 TTR 176300 7
Amyloidosis, renal 105200 LYZ 153450 7
Amyotrophic lateral sclerosis 01 ALS1 105400 SOD1 147450 7
Amyotrophic lateral sclerosis 02 ALS2 205100 ALS2 606352 21
Amyotrophic lateral sclerosis 04 ALS4 602433 SETX 608465 21
Amyotrophic lateral sclerosis 08 ALS8 608627 VAPB 605704 7
Amyotrophic lateral sclerosis 09 ALS9 611895 ANG 105850 7
Amyotrophic lateral sclerosis 10 ALS10 605078 TARDBP 612069 7
Amyotrophic lateral sclerosis 11 ALS11 612577 FIG4 609390 18
Amyotrophic lateral sclerosis 12 ALS12 613435 OPTN 602432 10
Amyotrophic lateral sclerosis 14 ALS14 613954 VCP 601023 14
Amyotrophic lateral sclerosis 5, juvenile ALS5 602099 SPG11 610844 21
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia ALS6 608030 FUS 137070 14
Amyotrophic lateral sclerosis, susceptibility to ALS1 105400 DCTN1 601143 21
Amyotrophic lateral sclerosis, susceptibility to, 13 ALS13 183090 ATXN2 601517 7
AMYOTROPHY, HEREDITARY NEURALGIC; HNA HNA 162100 SEPT9 604061 14
Andersen syndrome LQT7 170390 KCNJ2 600681 7
Androgen insensitivity AIS 300068 AR 313700 10
Anemia, sideroblastic, X-linked XLSA 300751 ALAS2 301300 10
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities XLANP 300835 GATA1 305371 7
Angelman syndrome AS 105830 15q11-q13 7
Angelman syndrome AS 105830 UBE3A 601623 14
Angioedema, hereditary HAE1 106100 C1NH 606860 7
Angioedema, hereditary, type III HAE3 610618 F12 610619 14
Aniridia AN 106210 PAX6 607108 14
Anterior segment mesenchymal dysgenesis ASMD 107250 FOXE3 601094 7
Anterior segment mesenchymal dysgenesis ASMD 107250 PITX3 602669 7
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis ABS2 207410 FGFR2 176943 14
Aortic aneurysm, ascending, and dissection FBN1 134797 28
Aortic aneurysm, familial thoracic 6 AAT6 611788 ACTA2 102620 7
Apert syndrome 101200 FGFR2 176943 14
Aphakia, congenital primary 610256 FOXE3 601094 7
Aphasia, primary progressive FTLD-TDP 607485 GRN 138945 7
Arthrogryposis multiplex congenita, distal, type 1 DA1A 108120 TPM2 190990 7
Arthrogryposis, distal 2A DA2A 193700 MYH3 160720 21
Arthrogryposis, distal 2B DA2B 601680 MYH3 160720 18
Arthrogryposis, distal 2B DA2B 601680 TNNI2 191043 7
Arthrogryposis, distal 2B DA2B 601680 TNNT3 600692 10
Arthrogryposis, distal 2B DA2B 601680 TPM2 190990 7
Arthrogryposis, distal, type 3 DA3 114300 PIEZO2 613629 25
Arthrogryposis, distal, type 5 DA5 108145 PIEZO2 613629 21
Arthrogryposis, distal, type 8 DA8 178110 MYH3 160720 21
Asthma, susceptibility to 600807 HNMT 605238 7
Ataxia with Vitamin-E deficiency AVED 277460 TTPA 600415 7
Ataxia-telangiectasia AT 208900 ATM 607585 28
Ataxia-telangiectasia-like disorder ATLD 604391 MRE11A 600814 18
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia EAOH 208920 APTX 606350 7
Ataxia, spastic, 5, autosomal recessive SPAX5 614487 AFG3L2 604581 7
Atelosteogenesis II AOII 256050 SLC26A2 606718 7
Atelosteogenesis, type I AOI 108720 FLNB 603381 25
Atelosteogenesis, type III AOIII 108721 FLNB 603381 25
Atrial fibrillation, familial, 10 ATFB10 614022 SCN5A 600163 7
Atrial fibrillation, familial, 13 ATFB13 615377 SCN1B 600235 7
Atrial fibrillation, familial, 3 ATFB3 607554 KCNQ1 607542 14
Atrial fibrillation, familial, 4 ATFB4 611493 KCNE2 603796 7
Atrial fibrillation, familial, 9 ATFB9 613980 KCNJ2 600681 7
Atrioventricular septal defect 3 AVSD3 600309 GJA1 121014 7
Autoimmune disease, multisystem, infantile-onset ADMIO 615952 STAT3 102582 14
Autosomal dominant popliteal pterygium syndrome PPS 119500 IRF6 607199 7
Avascular necrosis of the femoral head ANFH 608805 COL2A1 120140 21
Axenfeld-Rieger syndrome 1 RIEG1 180500 PITX2 601542 7
Bamforth-Lazarus syndrome 241850 FOXE1 602617 10
Bannayan-Riley-Ruvalcaba syndrome BRRS 153480 PTEN 601728 7
Bardet-Biedl syndrome 01 BBS1 209900 BBS1 209901 14
Bardet-Biedl syndrome 02 BBS2 209900 BBS2 606151 14
Bardet-Biedl syndrome 06 BBS6 209900 MKKS 604896 7
Bardet-Biedl syndrome 10 BBS10 209900 BBS10 610148 7
Bardet-Biedl syndrome 12 BBS12 209900 BBS12 610683 7
Bardet-Biedl syndrome 13 BBS13 209900 MKS1 609883 14
Bart-Pumphrey syndrome 149200 GJB2 (Cx26) 121011 7
Barth syndrome MGCA2 302060 TAZ 300394 14
Bartter syndrome, antenatal, type 1 601678 SLC12A1 600839 21
Bartter syndrome, Antenatal, type 2 241200 KCNJ1 600359 7
Bartter syndrome, type 3 ROMK 607364 CLCNKB 602023 18
Bartter syndrome, type 4a BSND 602522 BSND 606412 7
Bartter syndrome, type 4B 613090 CLCNKA 602024
Basal Cell Nevus Syndrome BCNS 109400 PTCH1 601309 21
Beare-Stevenson syndrome BSTVS 123790 FGFR2 176943 18
Beckwith-Wiedemann syndrome BWS 130650 CDKN1C 600856 7
Beckwith-Wiedemann syndrome BWS 130650 NSD1 606681 21
Bent bone dysplasia syndrome BBDS 614592 FGFR2 176943 14
Bernard-Soulier syndrome A1 (recessive) BSSA1 231200 GP1BA 606672 7
Bernard-Soulier syndrome A2 (dominant) BSSA2 153670 GP1BA 606672 7
Bernard-Soulier syndrome B BSSB 231200 GP1BB 138720 7
Bernard-Soulier syndrome C BSSC 231200 GP9 173515 7
Bestrophinopathy, autosomal recessive ARB 611809 BEST1 607854 7
Beta-Thalassemia 613985 HBB 141900 7
Bifid nose with or without anorectal and renal anomalies BNAR 608980 FREM1 608944
Bleeding disorder, platelet-type, 15 BDPLT15 615193 ACTN1 102575
Bleeding disorder, platelet-type, 16, autosomal dominant GT 273800 ITGB3 173470 14
Blepharophimosis, epicanthus inversus, and ptosis BPES 110100 FOXL2 605597 7
Bohring-Opitz syndrome BOPS 605039 ASXL1 612990 14
Boomerang dysplasia 603381 FLNB 603381 25
Brachydactyly B1 BDB1 113000 ROR2 602337 10
Brachydactyly B2 BDB2 611377 NOG 602991 7
Brachydactyly-syndactyly syndrome BDSD 610713 HOXD13 142989 7
Brachydactyly, type A2 BDA2 112600 BMP2 112261
Brachydactyly, type D BDD 113200 HOXD13 142989 7
Brachydactyly, type E BDE1 113300 HOXD13 142989 7
Brachydactyly, type E2 BDE2 613382 PTHLH 168470 14
Brachyolmia type 3 BCYM3 113500 TRPV4 605427 14
Branchiootic syndrome 1 BOS1 602588 EYA1 601653 10
Branchiootorenal syndrome 1, with or without cataracts BOR1 113650 EYA1 601653 14
Branchiootorenal syndrome 2 BOR2 610896 SIX5 600963 14
Branchiootorenal syndrome 3 BOS3 113650 SIX1 601205 7
Breast cancer 114480 TP53 191170 7
Breast cancer, early-onset 114480 BRIP1 605882
Breast-Ovarian cancer, familial 1 BROVCA1 604370 BRCA1 113705 21
Breast-Ovarian cancer, familial 2 BROVCA2 612555 BRCA2 600185 21
Breast-Ovarian cancer, familial 3 BROVCA3 613399 Rad51C 602774 7
Breast-ovarian cancer, familial, susceptibility to, 4 BROVCA4 614291 RAD51D 602954 10
Brittle cornea syndrome (Ehlers-Danlos-Syndrome type 6B) BCS1 229200 ZNF469 612078 18
Bronchiectasis with or without elevated sweat chloride 1 BESC1 211400 SCNN1B 600760 14
Bronchiectasis with or without elevated sweat chloride 2 BESC2 613021 SCNN1A 600228 14
Bronchiectasis with or without elevated sweat chloride 3 BESC3 613071 SCNN1G 600761 14
Brown-Vialetto-Van Laere syndrome 1 BVVLS1 211530 SLC52A3 613350 7
Bruck syndrome 2 BRKS2 609220 PLOD2 601865 14
Brugada syndrome 1 BRGDA1 601144 SCN5A 600163 7
Brugada syndrome 5 BRGDA5 612838 SCN1B 600235 7
Brugada syndrome 6 BrS 613119 KCNE3 604433 7
Brugada syndrome 9 BRGDA9 616399 KCND3 605411 10
Budd-Chiari syndrome BDCHS 600880 F5 612309 7
Budd-Chiari syndrome BDCHS 600880 JAK2 147796 18
C syndrome 211750 CD96 606037 14
CADASIL CADASIL 125310 NOTCH3 600276 18
Caffey disease 114000 COL1A1 120150 21
Campomelic dysplasia CMPD 114290 SOX9 608160 7
CAPOS syndrome CAPOS 601338 ATP1A3 182350 14
CARASIL CARASIL 600142 HTRA1 602194 7
Cardiac valvular dysplasia, X-linked CVD1 314400 FLNA 300017 21
Cardiofaciocutaneous syndrome CFC1 115150 BRAF 164757 14
Cardiofaciocutaneous syndrome 2 CFC2 615278 KRAS 190070 7
Cardiofaciocutaneous syndrome 3 CFC3 609942 MAP2K1 176872 10
Cardiofaciocutaneous syndrome 4 CFC4 615280 MAP2K2 601263 10
Cardiomyopathy, dilated, 1A CMD1A 115200 LMNA 150330 14
Cardiomyopathy, dilated, 1E CMD1E 601154 SCN5A 600163 7
Cardiomyopathy, dilated, 1L CMD1L 606685 SGCD 601411 7
Cardiomyopathy, dilated, 1NN CMD1NN 615916 RAF1 164760 14
Cardiomyopathy, dilated, 1U CMD1U 613694 PSEN1 104311 10
Cardiomyopathy, dilated, 1X CMD1X 611615 FKTN 607440 10
Cardiomyopathy, dilated, 3B CMD3B 302045 DMD 300377 7
Cardiomyopathy, familial hypertrophic CMH1 192600 CAV3 601253 7
Cardiomyopathy, hypertrophic, 25 CMH25 607487 TCAP 604488 7
Carney complex, type 1 CNC1 160980 PRKAR1A 188830 7
Carotid intimal medial thickness 1 CIMT1 609338 PPARG 601487 7
Carpal tunnel syndrome, familial CTS1 115430 TTR 176300 7
Cataract 11, multiple types CTRCT11 610623 PITX3 602669 7
Cataract 12 CTRCT12 611597 BFSP2 603212 7
Cataract 15, multiple types CTRCT15 604219 MIP 154050 7
Cataract 6, multiple types CTRCT6 116600 EPHA2 176946 14
Cataract with late-onset corneal dystrophy 106210 PAX6 607108 10
CATSHL syndrome CATSHL 610474 FGFR3 134934 14
Caudal regression syndrome SDAM 182940 VANGL1 610132 7
CCFDN-Syndrom, Congenital cataracts, facial dysmorphism, and neuropathy CCFDN 604168 CTDP1 604927
Central hypoventilation syndrome, congenital CCHS 209880 RET 164761 18
Cerebral amyloid angiopathy, PRNP-related 137440 PRNP 176640 7
Cerebral creatine deficiency syndrome 1 CCDS1 300352 SLC6A8 300036 7
Cerebrooculofacioskeletal syndrome 1 COFS1 214150 ERCC6 609413 18
Cerebrotendinous xanthomatosis CTX 213700 CYP27A1 606530 7
Ceroid lipofuscinosis, neuronal, 1 CLN1 256730 PPT1 600722 7
Ceroid lipofuscinosis, neuronal, 11 CLN11 614706 GRN 138945 7
Ceroid lipofuscinosis, neuronal, 2 NCL2 204500 TPP1 607998 10
Ceroid lipofuscinosis, neuronal, 3 CLN3 204200 CLN3 607042 10
Charcot-Marie-Tooth 1A CMT1A 118220 PMP22 601097 7
Charcot-Marie-Tooth 1B CMT1B 118200 MPZ 159440 7
Charcot-Marie-Tooth 1D CMT1D 607678 EGR2 129010 7
Charcot-Marie-Tooth 1E CMT1E 118300 PMP22 601097 7
Charcot-Marie-Tooth 1F CMT1F 607734 NEFL 162280 7
Charcot-Marie-Tooth 2A CMT2A 609260 MFN2 608507 14
Charcot-Marie-Tooth 2B1 CMT2B1 605588 LMNA 150330 14
Charcot-Marie-Tooth 4J CMT4J 611228 FIG4 609390 14
Charcot-Marie-Tooth disease, axonal, type 2F CMT2F 606595 HSPB1 602195 7
Charcot-Marie-Tooth disease, axonal, type 2K CMT2K 607831 GDAP1 606598 7
Charcot-Marie-Tooth disease, axonal, type 2L CMT2L 608014 HSPB8 608014 7
Charcot-Marie-Tooth disease, axonal, type 2M CMTDIB 606482 DNM2 602378
Charcot-Marie-Tooth disease, axonal, type 2V CMT2V 616491 NAGLU 609701 10
Charcot-Marie-Tooth disease, axonal, type 2X CMT2X 616668 SPG11 610844 21
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis 607706 GDAP1 606598 7
Charcot-Marie-Tooth disease, dominant intermediate D CMTDID 607791 MPZ 159440 7
Charcot-Marie-Tooth disease, recessive intermediate, A CMTRIA 608340 GDAP1 606598 7
Charcot-Marie-Tooth disease, type 1C CMT1C 601098 LITAF 603795 7
Charcot-Marie-Tooth disease, type 2D CMT2D 601472 GARS 600287 14
Charcot-Marie-Tooth disease, type 2E CMT1F 607684 NEFL 162280 7
Charcot-Marie-Tooth disease, type 2I CMT2I 607677 MPZ 159440 7
Charcot-Marie-Tooth disease, type 2J CMT2J 607736 MPZ 159440 7
Charcot-Marie-Tooth disease, type 2Y CMT2Y 616687 VCP 601023 14
Charcot-Marie-Tooth disease, type 4A CMT4A 214400 GDAP1 606598 7
Charcot-Marie-Tooth disease, type 4K CMT4K 616684 SURF1 185620 7
Charcot-Marie-Tooth X-linked CMTX1 302800 GJB1 304040 7
CHARGE syndrome HHS 214800 CHD7 608892 21
Cherubism CRBM 118400 SH3BP2 602104 7
Chilblain lupus 610448 TREX1 606609 7
Cholestasis, benign recurrent intrahepatic ICP1 243300 ATP8B1 602397 14
Cholestasis, benign recurrent intrahepatic, 2 BRIC2 605479 ABCB11 603201 18
Cholestasis, intrahepatic, of pregnancy, 1 ICP1 147480 ATP8B1 602397 14
Cholestasis, intrahepatic, of pregnancy, 3 ICP3 614972 ABCB4 171060 21
Cholestasis, progressive familial intrahepatic 1 PFIC1 211600 ATP8B1 602397 18
Cholestasis, progressive familial intrahepatic 2 PFIC2 601847 ABCB11 603201 18
Cholestasis, progressive familial intrahepatic 3 PFIC3 602347 ABCB4 171060 21
Chondrodysplasia punctata CDPX1 302950 ARSE 300180 7
Chondrodysplasia punctata, rhizomelic, type 1 RCDP1 215100 PEX7 601757 10
Chondrodysplasia, Blomstrand type BOCD 215045 PTHR1 168468 14
Chondrosarcoma 215300 EXT1 608177 10
Chorea, hereditary benign BHC 118700 NKX2-1 600635 7
Choriodal dystrophy, central areolar 2 CACD2 613105 PRPH2 179605 7
Choroideremia CHM 303100 CHM 300390 10
Chronic infections, due to MBL deficiency MBL2 614372 MBL2 154545 7
Ciliary dyskinesia, primary, 1, with or without situs inversus PCD, CILD1 244400 DNAI1 604366 7
Ciliary dyskinesia, primary, 3, with or without situs inversus CILD3 608644 DNAH5 603335 7
CINCA syndrome CINCA 607115 NLRP3 606416 14
Cleft lip/palate-ectodermal dysplasia syndrome CLPED1 225060 PVRL1 600644 10
Cleft palate with ankyloglossia X-linked CPX 303400 TBX22 300307 14
Cockayne syndrome CSA 216400 ERCC8 609412 10
Cockayne syndrome B CSB 133540 ERCC6 609413 21
Codeine sensitivity- DRUG METABOLISM, POOR, CYP2D6-RELATED 608902 Cyp2D6 124030 7
Coffin-Lowry syndrome CLS 303600 RPS6KA3 300075 18
Cohen syndrome COH1 216550 VPS13B 607817 28
Coloboma isolated 610210 MAF1 610210 10
Coloboma isolated 604295 VAX2 604295 10
Coloboma of optic nerve 120430 PAX6 607108 14
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas MAP 132600 MUTYH 604933 14
Colorectal cancer CRC 114500 TP53 191170 7
Colorectal cancer, hereditary nonpolyposis, 1 HNPCC1 120435 MSH2 609309 14
Colorectal cancer, hereditary nonpolyposis, 2 HNPCC2 609310 MLH1 120436 14
Colorectal cancer, hereditary nonpolyposis, 5 HNPCC5 614350 MSH6 600678 14
Colorectal cancer, hereditary nonpolyposis, type 4 HNPCC4 614337 PMS2 600259 14
Colorectal cancer, hereditary nonpolyposis, type 6 HNPCC6 614331 TGFBR2 190182 10
Colorectal cancer, hereditary nonpolyposis, type 8 HNPCC8 613244 EPCAM 185535 7
Combined oxidative phosphorylation deficiency-14 COXPD14 614946 FARS2 611592 7
Complement component 4, partial deficiency of 120790 C1NH 606860 7
Cone-rod dystrophy 13 CORD13 608194 RPGRIP1 605446
Cone-rod dystrophy 2 CORD2 120970 CRX 602225
Cone-rod dystrophy 6 CORD6 601777 GUCY2D 600179 14
Cone-rod dystrophy, X-linked, 1 CORDX1 304020 RPGR 312610 21
Congenital disorder of glycosylation, type Ia CDG1A 212065 PMM2 601785 7
Congenital myopathy with excess of muscle spindles CSTLO 218040 HRAS 190020 7
Congenital short bowel syndrome IPOX 300048 FLNA 300017 21
Convulsions, familial infantile with paroxysmal choreoathetosis ICCA 602066 PRRT2 614386 7
Coproporphyria HCP 121300 CPOX 612732 10
Cornelia de Lange syndrome 5 CDLS5 300882 HDAC8 300269 10
Cornelia-de-Lange syndrome 1 CDLS1 122470 NIPBL 608667 21
Cornelia-de-Lange syndrome 3 CDLS3 610759 SMC3 606062 21
Corpus callosum, partial agenesis of 304100 L1CAM 308840 18
Cowden syndrome 1 CWS1 158350 PTEN 601728 7
Cowden syndrome 2 CWS2 612359 SDHB 185470 7
Cowden syndrome 3 615106 SDHD 602690 7
CPT deficiency, hepatic IA 255120 CPT1A 600528 14
CPT deficiency, hepatic, type II 600649 CPT2 600650 10
CPT II deficiency, lethal neonatal 608836 CPT2 600650 7
Craniofacial-deafness-hand syndrome CDHS 122880 PAX3 606597 10
Craniofrontonasal dysplasia CFNS 304110 EFNB1 300035
Craniometaphyseal dysplasia, autosomal recessive CMDR 218400 GJA1 121014 7
Creatine phosphokinase, elevated serum 123320 CAV3 601253 7
Creutzfeldt-Jakob disease CJD 123400 PRNP 176640 7
Cri-du-chat syndrome CDC 123450 CTNND2 604275 7
Crigler-Najjar syndrome HBLRCN1 218800 UGT1A1 191740 7
Crouzon syndrome 123500 FGFR2 176943 18
Crouzon syndrome with acanthosis nigricans CAN 612247 FGFR3 134934 14
Currarino syndrome 176450 MNX1 142994 7
Cushing syndrome, ACTH-independent adrenal, somatic 615830 PRKACA 601639
Cutaneous Malignant Melanoma CMM2 155601 CDKN2A 600160 7
Cutis laxa, autosomal dominant 2 ADCL2 614434 FBLN5 604580 10
Cutis laxa, autosomal recessive, type IA ARCL1A 219100 FBLN5 604580 10
Cystic Fibrosis CF 219700 CFTR 602421 18
Cystinosis, nephropathic CTNS 219800 CTNS 606272 7
Cystinosis, ocular nonnephropathic 219750 CTNS 606272 7
Cystinuria CSNU 220100 SLC3A1 104614 10
Czech dysplasia 609162 COL2A1 120140 25
Dandy-Walker malformation 220200 FOXC1 601090 7
Dandy-Walker malformation 220200 FOXL2 605597 7
Danon disease 300257 LAMP2 309060 7
Darier Disease DAR 124200 ATP2A2 108740 18
De Sanctis-Cacchione syndrome UVSS1 133540 ERCC6 609413 21
Deafness, autosomal dominant 11 DFNA11 601317 MYO7A 276903 21
Deafness, autosomal dominant 17 DFNA17 603622 MYH9 160775 21
Deafness, autosomal dominant 23 DFNA23 605192 SIX1 601205 7
Deafness, autosomal dominant 3A DFNA3A 601544 GJB2 (Cx26) 121011 7
Deafness, autosomal dominant 3B DFNA3B 612643 GJB6 (Cx30) 604418 7
Deafness, autosomal dominant 4A DFNA4 600652 MYH14 608568 7
Deafness, autosomal recessive 1B DFNB1B 612645 GJB6 (Cx30) 604418 7
Deafness, autosomal recessive 2 DFNB2 600060 MYO7A 276903 21
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct DFNB4 600791 SLC26A4 605646 14
Deafness, digenic 1A DFNB1A 220290 GJB6 (Cx30) 604418 7
Deafness, neurosensory, autosomal recessive DFNB1A 220290 GJB2 (Cx26) 121011 7
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 500008 MT-ND1 516000 7
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 500008 MT-RNR1 561000 7
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 500008 MT-TH 590040 7
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 500008 MT-TS1 590080 7
Dejerine-Sottas disease DSS 145900 EGR2 129010 7
Dejerine-Sottas disease DSS 180800 PMP22 601097 7
Dementia, frontotemporal FTD 600274 MAPT 157140 7
Dementia, frontotemporal FTD 600274 PSEN1 104311 10
Dent disease 2 300555 OCRL1 300535 21
Dentatorubro-pallidoluysian atrophy DRPLA 125370 ATN1 607462 7
Denys-Drash syndrome DDS 194080 WT1 607102 10
Desmoid disease, hereditary FAP1 135290 APC 611731 21
Diabetes insipidus, nephrogenic NDI 304800 AQP2 107777
Diabetes insipidus, nephrogenic NDI 304800 AVPR2 300538
Diabetes mellitus, insulin-dependent, 2 IDDM2 125852 INS 176730 7
Diabetes mellitus, insulin-dependent, 20 IDDM20 612520 HNF1A 142410 7
Diabetes mellitus, ketosis-prone KPD 612227 PAX4 167413 7
Diabetes mellitus, noninsulin-dependent NIDDM 125853 HNF1B 189907 7
Diabetes mellitus, noninsulin-dependent NIDDM 125853 PAX4 167413 7
Diabetes mellitus, noninsulin-dependent, 2 NIDDM 125853 HNF1A 142410 7
Diabetes mellitus, noninsulin-dependent, late onset NIDDM 125853 GCK 138079 21
Diabetes mellitus, permanent neonatal PNDM 606176 ABCC8 600509 21
Diabetes mellitus, permanent neonatal PNDM 606176 GCK 138079 10
Diabetes mellitus, permanent neonatal PNDM 606176 KCNJ11 600937 7
Diabetes mellitus, transient neonatal 2 TNDM2 610374 ABCC8 600509 21
Diabetes mellitus, transient neonatal, 3 PNDM 610582 KCNJ11 600937 7
Diastrophic dysplasia DTD 222600 SLC26A2 606718 7
DiGeorge syndrome 188400 22q11.2 188400 7
Digital arthropathy-brachydactyly, familial FDAB 606835 TRPV4 605427 14
Dihydropyrimidin Dehydrogenase deficiency DYPD 274270 DPYD 274270 3
Dowling-Degos disease 1 DDD1 179850 KRT5 148040 10
Dravet syndrome EIEE6 607208 SCN1A 182389 21
Duane-radial ray syndrome DRRS 607323 SALL4 607343 10
Dubin-Johnson syndrome DJS 237500 ABCC2 601107 21
Dysautonomia, familial HSAN3 223900 IKBKAP 603722 21
Dyschromatosis symmetrica hereditaria DSH 127400 ADAR 146920 21
Dyschromatosis universalis hereditaria 3 DUH3 615402 ABCB6 605452 21
Dysfibrinogenemia 202400 FGB 134830 7
Dysfibrinogenemia 202400 FGG 134850 7
Dysfibrinogenemia, congenital 616004 FGA 134820 10
Dysprothrombinemia/Hypoprothrombinemia 613679 F2 176930 10
Dystonia 01 DYT1 128100 TOR1A 605204 7
Dystonia 11 DYT11 159900 SGCE 604149 10
Dystonia 25 DYT25 615073 GNAL 139312 14
Dystonia 6, torsion DYT6 602629 THAP1 609520 7
Dystonia 9 DYT9 601042 SLC2A1 138140 10
Dystonia-12 DYT12 128235 ATP1A3 182350 14
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia DRD 128230 GCH1 600225 7
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia DRD 128230 GCH1 600225 7
Dystransthyretinemic hyperthyroxinemia 145680 TTR 176300 7
Ectodermal dysplasia 1, hypohidrotic, X-linked XHED 305100 EDA 300451 10
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ECTD10A 129490 EDAR 604095 10
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ECTD10B 224900 EDAR 604095 10
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ECTD11A 129490 EDARADD 606603 7
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ECTD11B 614941 EDARADD 606603 7
Ectodermal dysplasia 2, Clouston type ECTD2 129500 GJB6 (Cx30) 604418 7
Ectodermal dysplasia 3, Witkop type ECTD3 189500 MSX1 142983 7
Ectodermal dysplasia-syndactyly syndrome 1 EDSS1 613573 PVRL4 609607 10
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency OLEDAID 300301 IKBKG 300248 10
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency ED 612132 NFKBIA 164008 7
Ectodermal dysplasia, hypohidrotic, with immune deficiency HED-ID 300291 IKBKG 300248 10
Ectopia lentis, familial ECTOL1 129600 FBN1 134797 28
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 EEC3 604292 TP63 603273 14
Ehlers-Danlos syndrome II EDSII 130010 COL5A1 120215 28
Ehlers-Danlos syndrome IV EDSIV 130050 COL3A1 120180 21
Ehlers-Danlos syndrome VIIB EDSVIIB 130060 COL1A2 120160 21
Ehlers-Danlos syndrome VIIC EDSVIIC 225410 ADAMTS2 604539 21
Ehlers-Danlos syndrome, autosomal dominant, hypermobility type 130020 TNXB 600985 7
Ehlers-Danlos syndrome, cardiac valvular form 225320 COL1A2 120160 21
Ehlers-Danlos syndrome, classic type EDSI 130000 COL1A1 120150 25
Ehlers-Danlos syndrome, classic type EDSI 130000 COL5A1 120215 28
Ehlers-Danlos syndrome, classic type EDSI 130000 COL5A2 120190 28
Ehlers-Danlos syndrome, musculocontractural type 1 EDSMC1 601776 CHST14 608429 7
Eiken syndrome 600002 PTHR1 168468 14
Emery-Dreifuss muscular dystrophy 2, AD EDMD2 181350 LMNA 150330 14
Emery-Dreifuss muscular dystrophy 3, AR EDMD3 616516 LMNA 150330 14
Encephalopathy, acute, infection-induced, 4, susceptibility to IIAE4 614212 CPT2 600650 7
Encephalopathy, neonatal severe 300673 MECP2 300005 7
Encephalopathy, progressive, with or without lipodystrophy PELD 615924 BSCL2 606158 7
Endometrial cancer, familial 608089 MSH3 600887 18
Endometrial cancer, familial 608089 MSH6 600678 14
Endometrial carcinoma 608089 CDH1 192090
Endometrial carcinoma 608089 MSH3 600887
Endometrial carcinoma 608089 MSH6 600678
Endometrial carcinoma 608089 PTEN 601728
Enhanced S-cone syndrome (Goldmann-Favre syndrome) ESCS 268100 NR2E3 604485 7
Epidermolysis bullosa simplex-MP EBSMP 131960 KRT5 148040 10
Epidermolysis bullosa simplex, Dowling-Meara type EBSDM 131760 KRT5 148040 10
Epidermolysis bullosa simplex, Koebner type 131900 KRT5 148040 10
Epidermolysis bullosa simplex, recessive 1 EBSB1 601001 KRT5 148040 10
Epidermolysis bullosa simplex, Weber-Cockayne type EBSB1 131800 KRT5 148040 10
Epidermolytic hyperkeratosis EHK 113800 KRT1 139350 10
Epidermylysis bullosa simplex-MCR 609352 KRT5 148040 10
Epilepsy of Lafora MELF 254780 EPM2A 607566 10
Epilepsy of Lafora MELF 254780 NHLRC1 608072 7
Epilepsy of Unverricht and Lundborg EPM1 254800 CSTB 601145 7
Epilepsy, benign neonatal 1 EBN1 121200 KCNQ2 602235 14
Epilepsy, childhood absence, susceptibility to, 2 ECA2 607681 GABRG2 137164 10
Epilepsy, familial temporal lobe, 1 ETL1 600512 LGI1 604619 7
Epilepsy, familial temporal lobe, 5 ELT5 614417 CPA6 609562 10
Epilepsy, familial temporal lobe, 7 ETL7 616436 RELN 600514 21
Epilepsy, focal, with speech disorder and with or without mental retardation FESD 245570 GRIN2A 138253 14
Epilepsy, generalized with febrile seizures plus (GEFS+) 1 GEFSP1 604233 SCN1B 600235 7
Epilepsy, generalized with febrile seizures plus (GEFS+) 2 GEFSP2 604403 SCN1A 182389 21
Epilepsy, generalized with febrile seizures plus (GEFS+) 3 GEFSP3 611277 GABRG2 137164 10
Epilepsy, generalized with febrile seizures plus (GEFS+) 5 GEFSP5 613060 GABRD 137163 7
Epilepsy, generalized with febrile seizures plus, type 7 GEFSP7 613863 SCN9A 603415 21
Epilepsy, idiopathic generalized, 11 EIG11 607628 CLCN2 600570 21
Epilepsy, idiopathic generalized, 8 EIG8 612899 CASR 601199 10
Epilepsy, idiopathic generalized, susceptibility to, 9 607682 CACNB4 601949 14
Epilepsy, idiopathic generalized, suscpetibility to, 12 EIG12 138140 SLC2A1 138140 7
Epilepsy, juvenile absence, susceptibility to, 1 EJA1 608815 EFHC1 608815 10
Epilepsy, juvenile absence, susceptibility to, 2 EJA2 607628 CLCN2 600570 21
Epilepsy, juvenile myoclonic 6 EJM6/EIG9 607682 CACNB4 601949 14
Epilepsy, juvenile myoclonic 8 EJM8 607628 CLCN2 600570 21
Epilepsy, juvenile myoclonic, susceptibility to, 5 EJM5 611136 GABRA1 137160 7
Epilepsy, nocturnal frontal lobe 3 ENFL3 605375 CHRNB2 118507 7
Epilepsy, nocturnal frontal lobe, 1 ENFL1 600513 CHRNA4 118504 10
Epilepsy, nocturnal frontal lobe, 5 ENFL5 615005 KCNT1 608167 21
Epilepsy, nocturnal frontal lobe, type 4 ENFL4 610353 CHRNA2 118502 10
Epilepsy, Pyriodoxine-dependent EPD 266100 ALDH7A1 107323 18
Epileptic encephalopathy, early infantile 01 EIEE1 308350 ARX 300382 7
Epileptic encephalopathy, early infantile 11 EIEE11 613721 SCN2A 182390 21
Epileptic encephalopathy, early infantile 2 EIEE2 300672 CDKL5 300203 18
Epileptic encephalopathy, early infantile 5 EIEE5 613477 SPTAN1 182810 25
Epileptic encephalopathy, early infantile 7 EIEE7 613720 KCNQ2 602235 14
Epileptic encephalopathy, early infantile 9 EIEE9 300088 PCDH19 300460 14
Epileptic encephalopathy, early infantile, 14 EIEE14 614959 KCNT1 608167 21
Epileptic encephalopathy, early infantile, 19 EIEE19 615744 GABRA1 137160 7
Epileptic encephalopathy, early infantile, 24 EIEE24 615871 HCN1 602780 7
Epileptic encephalopathy, early infantile, 4 EIEE4 612164 STXBP1 602926 14
Epileptic encephalopathy, Lennox Gastaut type 606369 MAPK10 602897 14
Epiphyseal dysplasia, multiple, 1 EDM1 132400 COMP 600310 14
Epiphyseal dysplasia, multiple, 2 EDM2 600204 COL9A2 120260 7
Epiphyseal dysplasia, multiple, 3 EDM 3 600969 COL9A3 120270 7
Epiphyseal dysplasia, multiple, 4 EDM4 226900 SLC26A2 606718 7
Epiphyseal dysplasia, multiple, 5 EDM 5 607078 MATN3 602109 7
Epiphyseal dysplasia, multiple, 6 EDM6 614135 COL9A1 120210 7
Epiphyseal dysplasia, multiple, with myopia and deafness EDMMD 132450 COL2A1 120140 25
Episodic Ataxia 2 EA2 108500 CACNA1A 601011 28
Episodic Ataxia 5 EA5 613855 CACNB4 601949 14
Episodic Ataxia 6 EA6 612656 SLC1A3 600111 7
Episodic ataxia/myokymia syndrome EA1 160120 KCNA1 176260 7
Episodic kinesigenic dyskinesia 1 EKD1 128200 PRRT2 614386 7
Episodic pain syndrome, familial, 1 FEPS1 615040 TRPA1 604775 18
Episodic pain syndrome, familial, 2 FEPS2 615551 SCN10A 604427 21
Episodic pain syndrome, familial, 3 FEPS3 615552 SCN11A 604385 21
Epstein syndrome 153650 MYH9 160775 21
Erythermalgia 133020 SCN9A 603415 21
Erythrocytosis, familial, 2 ECYT2 263400 VHL 608537 7
Erythrokeratodermia variabilis et progressiva EKVP 133200 GJA1 121014 7
Esophageal cancer ESCC 133239 TGFBR2 190182 10
Exudative vitreoretinopathy 1 EVR1 133780 FZD4 604579 7
Exudative vitreoretinopathy 2, X-linked ND 310600 NDP 300658 7
Exudative vitreoretinopathy 4 EVR4 601813 LRP5 603506 21
Fabry disease 301500 GLA 300644 10
Facioscapulohumeral muscular dystrophy 1A FSHD 158900 D4Z4 REPEAT 606009 35
Factor V deficiency 227400 F5 612309 7
Factor VII deficiency 227500 F7 613878 7
Factor X deficiency 227600 F10 227600 7
Factor XI deficiency 612416 F11 264900 14
Factor XII deficiency 234000 F12 610619 14
FAHR DISEASE, FAMILIAL, FORMERLY IBGC1 213600 SLC20A2 158378 10
Failure of tooth eruption, primary PFE 125350 PTHR1 168468 14
Familial cold urticaria FCAS1 120100 NLRP3 606416 14
Familial Mediterranean Fever, AD FMF 134610 MEFV 608107 14
Fanconi anemia, complementation group D1 FANCD1 605724 BRCA2 600185 21
Fanconi anemia, complementation group J FANCJ 609054 BRIP1 605882
Fanconi anemia, complementation group N FANCN 610832 PALB2 610355 14
Fanconi anemia, complementation group O FANCO 613399 Rad51C 602774 7
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young FRTS4 616026 HNF4A 600281 10
Fanconi-Bickel syndrome FBS 227810 SLC2A2 138160 10
Fazio-Londe Disease 211500 SLC52A3 613350 7
Febrile seizures, familial, 11 FEB11 614418 CPA6 609562 10
Fechtner syndrome FTNS 153640 MYH9 160775 21
Fetal akinesia deformation sequence FADS 208150 DOK7 610285 7
Fetal akinesia deformation sequence FADS 208150 RAPSN 601592 7
FG syndrome 2 FGS2 300321 FLNA 300017 21
Fibromatosis, gingival GINGF1 135300 SOS1 182530 21
Focal cortical dysplasia, Taylor balloon cell type FCDT 607341 TSC1 605284 21
Focal dermal hypoplasia FDH 305600 PORCN 300651 10
Foveal hyperplasia FVH1 136520 PAX6 607108 14
Fragile X syndrome A 300624 FMR1 309550 14
Fragile X-associated tremor/ataxia syndrome FXTAS 300623 FMR1 309550 7
Frank-ter Haar syndrome FTHS 249420 SH3PXD2B 613293 14
Frasier syndrome 136680 WT1 607102 10
Friedreich ataxia FRDA 229300 FXN1 606829 7
Frontometaphyseal dysplasia FMD 305620 FLNA 300017 21
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 FTDALS1 105550 C9orf72 614260 7
Frontotemporal lobar degeneration FTLD-TDP 605078 TARDBP 612069 7
Frontotemporal lobar degeneration with ubiquitin-positive inclusions FTD 607485 GRN 138945 7
Fructose intolerance 229600 ALDOB 612724 7
Fuhrmann syndrome 228930 WNT7A 601570 7
Fumarase deficiency FMRD 606812 FH 136850 10
Galactosemia GALT 230400 GALT 606999 14
Gallbladder disease 1 GBD1 600803 ABCB4 171060 21
Gastric Cancer HDGC 137215 CDH1 192090 14
Gastrointestinal stromal tumor GIST 606764 SDHB 185470 7
Gastrointestinal stromal tumor 606764 SDHC 602413 7
Gastrointestinal stromal tumor GIST 606764 SDHD 602690 7
Geleophysic dysplasia 2 GPHYSD2 614185 FBN1 134797 28
Gilles-de-la-Tourette syndrome GTS 137580 SLITRK1 609678 7
Gillespie syndrome 206700 PAX6 607108 14
Glaucoma 1, open angle, G GLC1G 609887 WDR36 609669
Glaucoma 1A, primary open angle GLC1A 137750 MYOC 601652
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset GLC3A 231300 CYP1B1 601771 7
Glioblastoma 3 GLM3 613029 BRCA2 600185 21
GM1-gangliosidosis, type I GM1 230500 GLB1 611458 14
GM1-gangliosidosis, type II 230600 GLB1 611458 14
GM1-gangliosidosis, type III 230650 GLB1 611458 14
Gnathodiaphyseal dysplasia GDD 166260 ANO5 608662 21
Growth hormone insensitivity with immunodeficiency 245590 STAT5B 604260 14
Growth hormone insensitivity, partial GHIP 604271 GHR 600946 10
Growth restriction, severe, with distinctive facies GRDF 616489 IGF2 147470
Hailey–Hailey disease BCPM, HHD 169600 ATP2C1 604384 21
Hajdu-Cheney syndrome HJCYS 102500 NOTCH2 600275 21
HARP syndrome HARP 607236 PANK2 606157 7
Heart-hand syndrome, Slovenian type 610140 LMNA 150330 14
Hematuria, benign familial BFH 141200 COL4A4 120131
Hemochromatosis HFE 235200 HFE 235200 7
Hemochromatosis, type 4 HFE4 606069 SLC40A1 604653 7
Hemophagocytic Lymphohistiocytosis 2 FHL2 603553 PRF1 170280 7
Hereditary motor and sensory neuropathy VIA HMSN6A 601152 MFN2 608507 14
Hereditary nonpolyposis colon cancer HNPCC 120435 MSH3 600887 18
Hereditary nonpolyposis colon cancer HNPCC 120435 PMS1 600258 14
Hermansky-Pudlak Syndrome 3 HPS3 614072 HPS3 606118 14
Hermansky-Pudlak Syndrome 4 HPS4 614073 HPS4 606682 10
Hermansky-Pudlak Syndrome 5 614074 HPS5 607521
Hermansky-Pudlak Syndrome 6 614075 HPS6 607522
Hermansky-Pudlak Syndrome 7 HPS7 614076 DTNBP1 607145 10
Hermansky-Pudlak Syndrome 8 614077 BLOC1S3 609762
Heterotopia, periventricular PVNH1 300049 FLNA 300017 21
Hirschsprung disease, susceptibility to, 1 HSCR1 142623 RET 164761 18
Huntington disease like 1 HDL1 603218 PRNP 176640 7
Huntington disease like 2 HDL2 606430 JPH3 605268 7
Hutchinson-Gilford progeria syndrome HGPS 176670 LMNA 150330 14
Hyper-IgE recurrent infection syndrome JOB 147060 STAT3 102582 14
Hyperbilirubinemia, familial transient neonatal 237900 UGT1A1 191740 7
Hypercalcemia, infantile 143880 Cyp24A1 126065 14
Hypercholesterolemia 143890 LDLR 606945 14
Hyperekplexia 2, autosomal recessive HKPX2 614619 GLRB 138492 7
Hyperferritinemia-cataract syndrome HHCS 600886 FTL 134790 7
Hyperinsulinemic hypoglycemia, familial, 1 HHF1 256450 ABCC8 600509 21
Hyperinsulinemic hypoglycemia, familial, 2 HHF2 601820 KCNJ11 600937 7
Hyperinsulinemic hypoglycemia, familial, 3 HHF3 602485 GCK 138079 10
Hyperinsulinemic hypoglycemia, familial, 4 HHF4 609975 HADH 601609 7
Hyperinsulinism-hyperammonemia syndrome HHF6 606762 GLUD1 138130 10
Hyperkalemic periodic paralysis, type 2 HYPP2 170500 SCN4A 603967 14
Hyperlipoproteinemia, type III 107741 APOE 107741 3
Hyperornithinemia-Hyperammonemia-Homocitrullinemina Syndrom HHH 238970 SLC25A15 603861 7
Hyperostosis, endosteal 144750 LRP5 603506 21
Hyperoxaluria, primary I HP1 259900 AGXT 604285 10
Hyperoxaluria, primary III HP3 613616 HOGA1 613597 10
Hyperparathyroidism, neonatal NSHPT 239200 CASR 601199 10
Hyperphenylalaninemia, BH4-deficient, B HPABH4B 233910 GCH1 600225 7
Hyperphenylalaninemia, BH4-deficient, B HPABH4B 233910 GCH1 600225 7
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 605115 NR3C2 600983 10
Hyperthyroidism, familial gestational 603373 TSHR 603372 20
Hyperthyroidism, nonautoimmune 609152 TSHR 603372 20
Hypertriglyceridemia, transient infantile HTGTI 614480 GPD1 138420 7
Hyperuricemic nephropathy, familial juvenile 1 HNFJ1 162000 UMOD 191845 10
Hypoalphalipoproteinemia FHA 604091 APOA1 107680 7
Hypobetalipoproteinemia FHBL1 615558 APOB 107730 7
Hypocalcemia, autosomal dominant HYPOC1 601198 CASR 601199 10
Hypocalcemia, autosomal dominant 2 HYPOC2 615361 GNA11 139313 7
Hypocalciuric hypercalcemia, type I HHC1 145980 CASR 601199 10
Hypocalciuric hypercalcemia, type II HHC2 145981 GNA11 139313 7
Hypochondroplasia HCH 146000 FGFR3 134934 18
Hypoglycemia of infancy, leucine-sensitive 240800 ABCC8 600509 21
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) KAL1 308700 KAL1 300836 10
Hypogonadotropic hypogonadism 11 with or without anosmia (Kallmann syndrome 11) 614840 TACR3 162332
Hypogonadotropic hypogonadism 2 with or without anosmia HH2 147950 FGFR1 136350 14
Hypokalemic periodic paralysis 2 HOKPP2 613345 SCN4A 603967 7
Hypokalemic periodic paralysis, type 1 HOKPP1 170400 CACNA1S 114208 7
Hypoparathyroidism, familial isolated FIH 146200 GCM2 603716 7
Hypophosphatasia, adult 146300 ALPL 171760 10
Hypophosphatasia, infantile HOPS 241500 ALPL 171760 10
Hypophosphatemic Rickets XLHR 307800 PHEX 300550 18
Hypophosphatemic rickets, AR ARHR1 241520 DMP1 600980
Hypophosphatemic rickets, autosomal dominant ADHR 193100 FGF23 605380 7
Hypoplastic left heart syndrome 1 HLHS1 241500 GJA1 121014 7
Hypospadias 1, X-linked HYSP1 300633 AR 313700 10
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia CHNG2 218700 PAX8 167415 20
Hypothyroidism, congenital, nongoitrous, 1 CHNG1 275200 TSHR 603372 20
Hystrix-like ichthyosis with deafness 602540 GJB2 (Cx26) 121011 7
Ichthyosis bullosa of Siemens IBS 146800 KRT2 600194 10
Ichthyosis histrix, Curth-Macklin type IHCM 146590 KRT1 139350 10
Ichthyosis, cyclic, with epidermolytic hyperkeratosis 607602 KRT1 139350 10
Ichthyosis, X-linked XLI 308100 STS 300747 10
IFAP syndrome with or without BRESHECK syndrome 308205 MBTPS2 300294 10
IMAGE syndrome IMAGE 614732 CDKN1C 600856 7
Immunodeficiency, isolated IMD33 300584 IKBKG 300248 7
Incontinentia pigmenti IP2 308300 IKBKG 300248 7
Insensitivity to pain, congenital CIP 243000 SCN9A 603415 21
Insomnia, fatal familial FFI 600072 PRNP 176640 21
Insulin resistance, severe, digenic FPLD3 604367 PPARG 601487 7
Intervertebral disc disease, susceptibility to IDD 603932 COL9A2 120260 7
Intervertebral disc disease, susceptibility to IDD 603932 COL9A3 120270
Intestinal pseudoobstruction, neuronal IPOX 300048 FLNA 300017 21
Invasive pneumococcal disease, recurrent isolated, 2 IPD2 300640 IKBKG 300248 7
Iridogoniodysgenesis, type 2 IRID2 137600 PITX2 601542 7
Jackson-Weiss syndrome JWS 123150 FGFR1 136350 14
Joubert syndrome 10 JBTS10 311200 OFD1 300170
Joubert syndrome 6 610688 TMEM67 609884
Keratitis 148190 PAX6 607108 14
Keratoderma, palmoplantar, with deafness 148350 GJB2 (Cx26) 121011 7
Keratosis follicularis spinulosa decalvans, X-linked KFSDX 308800 MBTPS2 300294 10
Keratosis palmoplantaris striata III PPKS3 607654 KRT1 139350 10
Keutel syndrome KTLS 245150 MGP 154870 7
Klippel-Feil syndrome 3, autosomal dominant KFS3 613702 GDF3 606522 7
Kniest dysplasia 156550 COL2A1 120140 25
Krabbe disease GALC 245200 GALC 606890 14
L-ferritin deficiency, dominant and recessive LFTD 615604 FTL 134790 7
Lactase persistance/nonpersistance 223100 MCM6 601806 7
LADD syndrome LADD 149730 FGFR2 176943 14
LADD syndrome LADD 149730 FGFR3 134934 14
Langer mesomelic dysplasia LMD 249700 SHOX/SHOY 312865 7
Laron dwarfism 262500 GHR 600946 10
Larsen syndrome LRS 150250 FLNB 603381 25
Lateral meningocele syndrome LMNS 130720 NOTCH3 600276 18
Leber congenital amaurosis 1 LCA1 204000 GUCY2D 600179 14
Leber congenital amaurosis 7 LCA7 613829 CRX 602225
Leber Optic Atrophy LHON 535000 mit MTND1, MTND4, MTND6, MTCYB 7
Legg-Calve-Perthes disease LCPD 150600 COL2A1 120140 25
Leigh syndrome LS 256000 COX10 602125 10
Leigh syndrome LS 256000 SURF1 185620 7
Leiomyomatosis and renal cell cancer HLRCC 150800 FH 136850 14
LEOPARD syndrome 1 LPRD1 151100 PTPN11 176876 14
LEOPARD syndrome 2 LPRD2 611554 RAF1 164760 14
LEOPARD syndrome 3 LPRD3 613707 BRAF 164757 14
Leri-Weill Dyschondrosteosis LWD; DCO 127300 SHOX/SHOY 312865 7
Lethal congenital contracture syndrome 5 LCCS5 615368 DNM2 602378
Leukocyte adhesion deficiency type 1 LAD1 116920 ITGB2 600065 14
Leukodystrophy, hypomyelinating, 2 HLD2 608804 GJC2 608803
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or Hypogonadotropic hypodonadism HDL7 607694 POLR3A 614258 21
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or Hypogonadotropic hypodonadism HLD8 614381 POLR3B 614366 21
Leukoencephalopathy with ataxia LKPAT 615651 CLCN2 600570 18
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation LBSL 611105 DARS2 610956 14
Leukoencephalopathy, diffuse hereditary, with spheroids HDLS 221820 CSF1R 164770 18
Li-Fraumeni Syndrome LFS1 151623 TP53 191170 7
Li-Fraumeni syndrome LFS2 609265 CHEK2 604373 7
Liddle syndrome LIDLS 177200 SCNN1B 600760 14
Liddle syndrome LIDLS 177200 SCNN1G 600761 14
Limb-mammary syndrome LMS 604292 TP63 603273 14
Lipodystrophy, congenital generalized, type 2 CGL2 269700 BSCL2 606158 7
Lipodystrophy, familial partial, 2 FPLD2 151660 LMNA 150330 14
Lipodystrophy, familial partial, 3 FPLD3 604367 PPARG 601487 7
Lipoprotein glomerulopathy LPG 611771 APOE 107741 3
Lissencephaly 247200 YWHAE 605066 21
Lissencephaly 1 LIS1 607432 PAFAH1B1 601545 7
Lissencephaly 2 LIS2 257320 RELN 600514 28
Lissencephaly 3 LIS3 611603 TUBA1A 602529 7
Lissencephaly 5 LIS5 615191 LAMB1 150240 21
Lissencephaly, X-linked 1 LISX1 300067 DCX 300121 7
Lissencephaly, X-linked 2 LISX2 300215 ARX 300382 7
Loeys-Dietz syndrome 1 LDS1 609192 TGFBR1 190181 7
Loeys-Dietz syndrome 2 LDS2 610168 TGFBR2 190182 10
Loeys-Dietz syndrome 3 LDS3 613795 SMAD3 603109 10
Loeys-Dietz syndrome 4 LDS4 614816 TGFB2 190220 7
Long QT syndrome 1 LGT1 192500 KCNQ1 607542 14
Long QT syndrome 2 LQTS2 613688 KCNH2 152427 14
Long QT syndrome 5 LQTS5 613695 KCNE1 176261 7
Long QT syndrome 6 LQTS6 613693 KCNE2 603796 7
Long QT syndrome 9 LQT9 611818 CAV3 601253 7
Long QT syndrome-3 LQT3 603830 SCN5A 600163 7
Lowe syndrome OCRL 309000 OCRL1 300535 21
Lujan Fryns syndrome 309520 MED12 300188 7
Lymphangioleiomyomatosis LAM 606690 TSC1 605284 21
Macrocephaly/autism syndrome 605309 PTEN 601728 7
Macrothrombocytopenia and progressive sensorineural deafness 153650 MYH9 160775 21
Macrothrombocytopenia, autosomal dominant, TUBB1-related 613112 TUBB1 612901 7
Macular degeneration, age-related, 3 ARMD3 608895 FBLN5 604580 10
Macular degeneration, X-linked atrophic 300834 RPGR 312610 21
Macular dystrophy, patterned, 1 MDPT1 169150 PRPH2 179605 7
Macular dystrophy, vitelliform, 2 VMD2 153700 BEST1 607854 7
Macular dystrophy, vitelliform, 3 VMD3 608161 PRPH2 179605 7
Malignant hyperthermia susceptibility 1 MHS1 145600 RYR1 180901 14
Malouf syndrome 212112 LMNA 150330 14
Mandibuloacral dysplasia MADA 248370 LMNA 150330 14
Mandibuloacral dysplasia with type B lipodystrophy MADB 608612 ZMPSTE24 606480 7
Manitoba oculotrichoanal syndrome MOTA 248450 FREM1 608944
Maple Syrup Urine Disease Ia MSUD1A 248600 BCKDHA 608348 7
Maple Syrup Urine Disease Ib MSUD1B 248600 BCKDHB 248611 10
Maple Syrup Urine Disease II MSUD2 248600 DBT 248610 10
Marden-Walker syndrome MWKS 248700 PIEZO2 613629 21
Marfan syndrome MFS1 154700 FBN1 134797 28
Marinesco-Sjogren Syndrome MSS 248800 SIL1 608005 7
MASA SYNDROME 303350 L1CAM 308840 18
MASS syndrome 604308 FBN1 134797 28
Maturity Onset Diabetes of the Young MODY11 613375 BLK 191305
Maturity Onset Diabetes of the Young MODY08 609812 CEL 114840
Maturity Onset Diabetes of the Young MODY02 125851 GCK 138079
Maturity Onset Diabetes of the Young MODY03 600496 HNF1A 142410
Maturity Onset Diabetes of the Young MODY05 137920 HNF1B 189907
Maturity Onset Diabetes of the Young MODY01 125850 HNF4A 600281
Maturity Onset Diabetes of the Young MODY10 613370 INS 176730
Maturity Onset Diabetes of the Young MODY07 610508 KLF11 603301
Maturity Onset Diabetes of the Young MODY04 606932 PDX1 600733
Maturity-onset diabetes of the young 6 MODY06 606394 NEUROD1 601724 7
Maturity-onset diabetes of the young, type 13 MODY13 610582 KCNJ11 600937 7
Maturity-onset diabetes of the young, type IX MODY09 612225 PAX4 167413 7
May-Hegglin Anomaly MHA 155100 MYH9 160775 21
McArdle Disease (Glycogen storage disease V) GSD5 232600 PYGM 608455 7
McCune-Albright syndrome MAS 174800 GNAS 139320 7
McKusick-Kaufman syndrome MKKS 236700 MKKS 604896 7
Meacham syndrome 608978 WT1 607102 14
Meckel syndrome 1 MKS1 249000 MKS1 609883 14
Medullary cystic kidney disease 2 MCKD2 603860 UMOD 191845 10
Medullary thyroid carcinoma MTC 155240 RET 164761 18
Medulloblastoma MDB 155255 BRCA2 600185 21
Megalencephalic Leukoenzephalopathy with subcortical cysts MLC1 604004 MLC1 605908 10
Melanoma and neural system tumor syndrome 155755 CDKN2A 600160 7
Melanoma, cutaneous malignant, susceptibility to, 8 CMM8 614456 MITF 156845 10
MELAS syndrome 540000 mit 7
Melnick-Needles syndrome MNS 309350 FLNA 300017 21
Menkes disease MNK 309400 ATP7A 300011 21
Mental retardation, autosomal dominant 16 MRD16 614609 SMC1L1 (SMC1A) 300040 18
Mental retardation, truncal obesity, retinal dystrophy, and micropenis MORM 610156 INPP5E 613037 10
Mental retardation, X-linked 19 MRX19 300844 RPS6KA3 300075 21
Mental retardation, X-linked syndromic, Christianson type MRXSCH 300243 SlC9A6 300231 14
Mental retardation, X-linked syndromic, Lubs type MRXSL 300260 MECP2 300005 7
Mental retardation, X-linked syndromic, Nascimento type MRXSN 300860 UBE2A 312180 7
Mental retardation, X-linked, FRAXE type FRAXE 309548 FMR2 300806 7
Mental retardation, X-linked, syndromic 13 MRXS13 300055 MECP2 300005 7
Mental retardation, X-linked, with isolated growth hormone deficiency 300123 SOX3 313430 7
Metachondromatosis METCDS 156250 PTPN11 176876 14
Metachromatic leukodystrophy MLD 250100 ARSA 607574 10
Metatropic dysplasia 156530 TRPV4 605427 14
Methylmalonic aciduria and homocystinuria, cbIC 277400 MMACHC 609831 7
Methylmalonic aciduria and homocystinuria, cbIF 277380 LMBRD1 612625 10
Mevalonic aciduria MEVA 610377 MVK 251170 10
Microcephaly 1, primary, autosomal recessive MCPH1 251200 MCPH1 607117 14
Microcephaly 2, primary, autosomal recessive MCPH2 604317 WDR62 604317 21
Microcephaly 6, primary, autosomal recessive MCPH6 608393 CENPJ 609279 14
Microphthalmia with coloboma 5 MCOPCB5 611638 SHH 600725 7
Microphthalmia with coloboma 6 MCOPCB6 613703 GDF3 606522 7
Microphthalmia, isolated 5 MCOP5 611040 MFRP 606227 10
Microphthalmia, isolated 7 MCOP7 613704 GDF3 606522 7
Microphthalmia, isolated, with coloboma 10 MCOPCB10 616428 RBP4 180250 7
Microphthalmia, isolated, with coloboma 7 MCOPCB7 614497 ABCB6 605452 21
Microphthalmia, syndromic 11 MCOPS11 614402 VAX1 604294 14
migraine, familial hemiplegic, 1 FHM1 108500 CACNA1A 601011 28
Migraine, familial hemiplegic, 3 FHM3 609634 SCN1A 182389 21
Miller syndrome POADS 263750 DHODH 126064 7
Miller-Dieker syndrome MDLS 247200 17p13.3 7
Mismatch repair cancer syndrome HNPCC2 276300 MLH1 120436 14
Mismatch repair cancer syndrome MMRCS 276300 MSH2 609309 14
Mismatch repair cancer syndrome MMRCS 276300 PMS2 600259 14
Mismatch repair cancer syndrome MMRCS 608089 MSH6 600678 14
Mitochondrial complex IV deficiency 220110 COX10 602125 14
Mitochondrial DNA depletion syndrome 4A (Alpers type) MTDPS4A 203700 POLG 174763 18
Mitochondrial DNA depletion syndrome 4B (MNGIE type) MTDPS4B 203700 POLG 174763 18
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MTDPS5 612073 SUCLA2 603921 10
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MTDPS7 271245 C10ORF2 606075 7
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) SANDO 607459 POLG 174763 18
Miyoshi muscular dystrophy 1 MMD1 254130 DYSF 603009 25
Miyoshi muscular dystrophy 3 MMD3 613319 ANO5 608662 21
Mowat-Wilson MOWS 235730 ZEB2 605802 7
Moyamoya disease 5 MYMY5 614042 ACTA2 102620 7
Muckle-Wells Syndrome MWS 191900 NLRP3 606416 14
Mucopolysaccharidosis Ih MPS1-H 607015 IDUA 252800 10
Mucopolysaccharidosis Ih/s MPS1-HS 607015 IDUA 252800 10
Mucopolysaccharidosis IIIB MPS3B 252920 NAGLU 609701 10
Mucopolysaccharidosis Is MPS1-S 607016 IDUA 252800 10
Mucopolysaccharidosis IVA MPS4A 253000 GALNS 612222 14
Mucopolysaccharidosis type IVB (Morquio) MPS4B 253010 GLB1 611458 14
Muenke syndrome MNKES 602849 FGFR3 134934 18
Muir-Torre syndrome MRTES 158320 MLH1 120436 14
Muir-Torre syndrome MRTES 158320 MSH2 609309 14
Mulibrey nanism 605073 TRIM37 605073 18
Mullerian aplasia and hyperandrogenism 158330 WNT4 603490 7
Multiple endocrine Neoplasia 1 MEN1 131100 MEN1 613733 7
Multiple endocrine Neoplasia 2A MEN2A 171400 RET 164761 18
Multiple endocrine Neoplasia 2B MEN2B 162300 RET 164761 18
Multiple endocrine neoplasia, type IV MEN4 610755 CDKN1B 600778
Multiple pterygium syndrome, lethal type LMPS 253290 CHRNA1 100690 7
Multiple synostosis syndrome 1 SYNS1 186500 NOG 602991 7
Multiples Pterygium syndrome EVMPS 265000 CHRNG 100730 10
Multisystemic smooth muscle dysfunction syndrome 613834 ACTA2 102620 7
Muscular dystrophy / dystroglycanopathy A1 MDDGA1 236670 POMT1 607423 14
Muscular dystrophy / dystroglycanopathy A3 MDDGA3 253280 POMGNT1 606822 14
Muscular dystrophy / dystroglycanopathy B1 MDDGB1 613155 POMT1 607423 14
Muscular dystrophy / dystroglycanopathy B3 MDDGB3 613151 FKRP 606596 7
Muscular dystrophy / dystroglycanopathy B3 MDDGB3 613151 POMGNT1 606822 14
Muscular dystrophy / dystroglycanopathy C3 MDDGC3 613157 POMGNT1 606822 14
Muscular dystrophy Becker BMD 300376 DMD 300377 28
Muscular dystrophy Duchenne DMD 310200 DMD 300377 28
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MDDGA2 613150 POMT2 607439 21
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MDDGA4 253800 FKTN 607440 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 MDDGA5 613153 FKRP 606596 7
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 LGMD2N 613158 POMT2 607439 21
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 MDDGB3 613151 POMGNT1 606822 14
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 MDDGB5 606612 FKRP 606596 7
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 MDDGB4 613152 FKTN 607440
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 LGMD2N 613158 POMT2 607439 21
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MDDGC4 611588 FKTN 607440
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MDDGC5 607155 FKRP 606596 7
Muscular dystrophy, congenital MDCL 613205 LMNA 150330 14
Muscular dystrophy, limb-girdle 1A LGMD1A 159000 MYOT 604103 10
Muscular dystrophy, limb-girdle 1B LGMD1B 159001 LMNA 150330 14
Muscular dystrophy, limb-girdle 1C LGMD1C 607801 CAV3 601253 7
Muscular dystrophy, limb-girdle 2A LGMD2A 253600 CAPN3 114240 21
Muscular dystrophy, limb-girdle 2B LGMD2B 253601 DYSF 603009 25
Muscular dystrophy, limb-girdle 2C LGMD2C 253700 SGCG 608896 7
Muscular dystrophy, limb-girdle 2D LGMD2D 608099 SGCA 600119 7
Muscular dystrophy, limb-girdle 2E LGMD2E 604286 SGCB 600900 7
Muscular dystrophy, limb-girdle 2F LGMD2F 601287 SGCD 601411 7
Muscular dystrophy, limb-girdle 2G LGMD2G 601954 TCAP 604488 7
Muscular dystrophy, limb-girdle 2K LGMD2K 609308 POMT1 607423 14
Muscular dystrophy, limb-girdle, type 2L LGMD2L 611307 ANO5 608662 21
Myasthenia gravis, neonatal transient EVMPS 265000 CHRNG 100730 10
Myasthenic syndrome, acetazolamide-responsive CMS16 614198 SCN4A 603967 7
Myasthenic syndrome, asso. with episodic apnea CMS1A2 254210 CHAT 118490 14
Myasthenic syndrome, congenital, 10 CMS10 254300 DOK7 610285 7
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency CMS11 616326 RAPSN 601592 7
Myasthenic syndrome, congenital, 1A, slow-channel CMS1A 601462 CHRNA1 100690 7
Myasthenic syndrome, congenital, 1B, fast-channel CMS1B 608930 CHRNA1 100690 7
Myasthenic syndrome, congenital, 4A, slow-channel CMS4A 605809 CHRNE 100725 7
Myasthenic syndrome, congenital, 4B, fast-channel CMS4B 616324 CHRNE 100725 7
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency CMS4C 608931 CHRNE 100725 7
Myocarinfarctiondial MCI1 608446 ITGB3 173470 3
Myoclonic epilepsy with red ragged fibers MERRF 545000 MTTK 590060 7
Myoclonic epilepsy, juvenile, susceptibility to, 1 EJM1 254770 EFHC1 608815 10
Myoglobinuria, acute recurrent, autosomal recessive ARARM 268200 LPIN1 605518 14
Myopathy due to CPT II deficiency 255110 CPT2 600650 10
Myopathy due to myoadenylate deaminase deficiency MMDD 102770 AMPD1 102770 18
Myopathy, centronuclear CNM1 160150 DNM2 602378
Myopathy, distal, Tateyama type MPDT 614321 CAV3 601253 7
Myopathy, distal, with anterior tibial onset DMAT 606768 DYSF 603009 21
Myotonic dystrophy I DM1 160900 DMPK 605377 7
Myxoma, intracardiac 255960 PRKAR1A 188830 7
Nail-patella syndrome NPS 161200 LMX1B 602575
Nanophthalmos 2 NNO2 609549 MFRP 606227 10
Nemaline myopathy 4 NEM4 609285 TPM2 190990 7
Nephrogenic syndrome of inappropriate antidiuresis NSIAD 300539 AVPR2 300538
Nephrotic syndrome, type 1 NPHS1 256300 NPHS1 602716 21
Nephrotic syndrome, type 4 NPHS4 256370 WT1 607102 10
Neural tube defects NTD 182940 VANGL1 610132 7
Neural tube defects, susceptibility to NTDFS 236250 MTHFR 607093 3
Neuroaxonal dystrophy, infantile 1 INAD1 256600 PLA2G6 603604 14
Neurodegeneration with brain iron accumulation 1 NBIA1 234200 PANK2 606157 7
Neurodegeneration with brain iron accumulation 4 NBIA4 614298 C19orf12 614297 7
Neurofibromatosis I NF1 162200 NF1 613113 21
Neuropathy, congenital hypomyelinating CHN 605253 EGR2 129010 7
Neuropathy, distal hereditary motor, type IIA HMN2A 158590 HSPB8 608014 7
Neuropathy, distal hereditary motor, type IIB HMN2B 608634 HSPB1 602195 2
Neuropathy, distal hereditary motor, type VA HMN5A 600794 BSCL2 606158 7
Neuropathy, distal hereditary motor, type VA HMN5A 600794 GARS 600287 14
Neuropathy, distal hereditary motor, type VIIB HMN7B 607641 DCTN1 601143 21
Neuropathy, hereditare sensory and autonomic II HSAN2 201300 WNK1 605232 7
Neuropathy, hereditary sensory and autonomic I HSAN1A 162400 SPTLC1 605712 7
Neuropathy, hereditary sensory and autonomic, type VII HSAN7 615548 SCN11A 604385 21
Neuropathy, hereditary sensory, type ID HSANID 182600 SPG3A 606439 14
Neuropathy, hereditary, with or without age-related macular degeneration HNARMD 608895 FBLN5 604580 10
Neuropathy, inflammatory demyelinating AIDP 139393 PMP22 601097 7
Neutropenia, severe congenital SCNX 300299 WAS 300392 10
Niemann Pick disease C1/D NPC1 257220 NPC1 607623 21
Nijmegen breakage syndrome NBS 251260 NBN 602667 7
Noonan syndrome 1 NS1 163950 PTPN11 176876 14
Noonan syndrome 3 NS3 609942 KRAS 190070 7
Noonan syndrome 4 NS4 610733 SOS1 182530 21
Noonan syndrome 5 NS5 611553 RAF1 164760 14
Noonan syndrome 6 NS6 613224 NRAS 164790 7
Noonan syndrome 7 NS7 613706 BRAF 164757 14
Norrie disease ND 310600 NDP 300658 7
Obesity with impaired prohormone processing 600955 PCSK1 162150 14
Obesity, adrenal insufficiency, and red hair due to POMC deficiency 609734 POMC 176830 7
Obesity, autosomal dominant 601665 MC4R 155541 7
Obesity, early-onset, susceptibility to OBESITY 601665 POMC 176830 7
Obesity, morbid, due to leptin deficiency LEPD 601665 LEP 164160 7
Obesity, morbid, due to leptin receptor deficiency 601007 LEPR 601007 14
Obesity, severe 601665 PPARG 601487 7
Obesity, severe, and type II diabetes 601665 UCP3 602044 7
Obesity, severe, susceptibility to, 601665 CARTPT 602606 7
Obesity, severe, susceptibility to, BMIQ9 BMIQ9 602025 MC3R 155540 7
Obesity, susceptibility to, BMIQ12 BMIQ12 600955 PCSK1 162150 14
Obesity, susceptibility to, BMIQ4 BMIQ4 607447 UCP2 601693 7
Occipital horn syndrome OHS 304150 ATP7A 300011 21
Ocular albinism type 1, Ocular albinism X-Linked OA1 300500 GPR143 300500 7
Oculodentodigital dysplasia ODDD 164200 GJA1 121014 7
Oculopharyngeal muscular dystrophy OPMD 164300 PABPN1 602279 7
Odontoonychodermal dysplasia OODD 257980 WNT10A 606268 7
Ohdo syndrome, X-linked OHDOX 300895 MED12 300188 7
Oligodontia-colorectal cancer syndrome ODCRCS 608615 AXIN2 604025 14
Ophthalmoplegia, progressive external 1 PEOA1 157640 POLG 174763 18
Opitz GBBB syndrome GBBB1 300000 MID1 300552 7
Opitz-Kaveggia syndrome OKS 305450 MED12 300188 7
Optic atrophy 3 with cataract OPA3 165300 OPA3 606580 7
Optic atrophy 7 (OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7) OPA7 612989 TMEM126A 612988 7
Optic atrophy 9 OPA9 616289 ACO2 100850 14
Optic atrophy plus syndrome DOA+ 125250 OPA1 605290 21
Optic nerve hypoplasia 165550 PAX6 607108 14
Orofacial cleft 5 OFC5 608874 MSX1 142983 7
Orofacial cleft 6 OFC6 608864 IRF6 607199 7
Orofaciodigital syndrome I OFD1 311200 OFD1 300170
Osseous heteroplasia, progressive POH 166350 GNAS 139320 18
Osteoarthritis with mild chondrodysplasia 604864 COL2A1 120140 25
Osteochondromas, multiple 2 EXT2 133701 EXT2 608210 14
Osteogenesis imperfecta I OI1 166200 COL1A1 120150 21
Osteogenesis imperfecta II OI2 166210 COL1A1 120150 21
Osteogenesis imperfecta II OI2 166210 COL1A2 120160 21
Osteogenesis imperfecta III OI3 259420 COL1A1 120150 21
Osteogenesis imperfecta III OI3 259420 COL1A2 120160 21
Osteogenesis imperfecta IV OI4 166220 COL1A1 120150 21
Osteogenesis imperfecta IV OI4 166220 COL1A2 120160 21
Osteoglophonic dysplasia OGD 166250 FGFR1 136350 14
Osteopetrosis, autosomal dominant 1 OPTA1 607634 LRP5 603506 21
Osteoporosis-pseudoglioma syndrome OPPG 259770 LRP5 603506 21
Osteoses, multiple 1 EXT1 133700 EXT1 608177 14
Otofaciocervical syndrome OFC1 166780 EYA1 601653 10
Otopalatodigital syndrome, type I OPD1 311300 FLNA 300017 21
Otopalatodigital syndrome, type II OPD2 304120 FLNA 300017 21
Otospondylomegaepiphyseal dysplasia OSMED 215150 COL2A1 120140 25
Palmoplantar keratoderma with congenital alopecia ODDD 104100 GJA1 121014 7
Palmoplantar keratoderma, epidermolytic EPPK 607654 KRT1 139350 10
Palmoplantar keratoderma, nonepidermolytic NEPPK 600962 KRT1 139350 10
Pancreatic agenesis PAGEN 260370 PDX1 600733 7
Pancreatic cancer 2 PNCA2 613347 BRCA2 600185 21
Pancreatic cancer, susceptibility to, 3 PNCA3 613348 PALB2 610355 14
Pancreatic cancer, susceptibility to, 4 PNCA4 614320 BRCA1 113705 21
Pancreatic cancer/melanoma syndrome FAMMMPC 606719 CDKN2A 600160 7
Pancreatitis PCTT 167800 CPA1 114850 10
Pancreatitis PCTT 167800 CTRC 601405 7
Pancreatitis PCTT 167800 CTRL 118888 7
Pancreatitis PCTT 167800 PRSS1 276000 7
Pancreatitis PCTT 167800 SPINK1 167790 7
Panhypopituitarism, X-linked PHPX 312000 SOX3 313430 7
Panic disorder, susceptibility to PAND1 167870 COMT 116790 7
Paraganglioma and gastric stromal sarcoma 606864 SDHB 185470 7
Paraganglioma and gastric stromal sarcoma 606864 SDHC 602413 7
Paragangliomas 3 PGL3 605373 SDHC 602413 7
Paragangliomas 4 PGL4 115310 SDHB 185470 7
Paramyotonia congenita PMC 168300 SCN4A 603967 21
Parastremmatic dwarfism 168400 TRPV4 605427 14
Parkinson disease 14 PARK14 612953 PLA2G6 603604 18
Parkinson disease 2 PARK2 600116 PARK2 602544 10
Parkinson disease 8 PARK8 607060 LRRK2 609007 7
Parkinson disease, susceptibility to PD 168600 MAPT 157140 7
Paroxysmal extreme pain disorder PEXPD 167400 SCN9A 603415 21
Paroxysmal nonkinesigenic dyskinesia PNKD1 118800 PNKD1 609023 10
Partington syndrome PRTS 309510 ARX 300382 7
Pelizaeus Merzbacher disease PMD 312080 PLP1 300401 7
Pendred syndrome PDS 274600 SLC26A4 605646 14
Periodic Fever, familial, autosomal-dominant TRAPS 142680 TNFRSF1A 191190 10
Peripheral neuropathy, myopathy, hoarseness, and hearing loss PNMHH 614369 MYH14 608568 7
Peroxisome biogenesis disorder 1A (Zellweger) PBD1A 214100 PEX1 602136 7
Peroxisome biogenesis disorder 1B PBD1B 601539 PEX1 602136 7
Peroxisome biogenesis disorder 3A (Zellweger syndrome) PBD3A 614859 PEX12 601758 7
Peroxisome biogenesis disorder 3B PBD3B 266510 PEX12 601758 7
Peroxisome biogenesis disorder 9B PBD9B 614879 PEX7 601757 10
Perrault syndrome 5 PRLTS5 616138 C10ORF2 606075 7
Perry Syndome 168605 DCTN1 601143 21
Persistent Mullerian duct syndrome, type I PMDS 261550 AMH 600957 7
Persistent Mullerian duct syndrome, type II PMDS 261550 AMHR2 600956 0
Peters anomaly 604229 CYP1B1 601771 7
Peters anomaly 604229 PAX6 607108 7
Peters anomaly 604229 PITX2 601542 7
Peters anomaly 604229 PITX2 601542 7
Peters-plus syndrome 261540 B3GALTL 610308 14
Peutz-Jeghers syndrome PJS 175200 STK11 602216 7
Pfeiffer syndrome 101600 FGFR1 136350 14
Pheochromocytoma 171300 GDNF 600837 7
Pheochromocytoma 171300 MAX 154950 7
Pheochromocytoma 171300 RET 164761 18
Pheochromocytoma 171300 SDHA 600857 10
Pheochromocytoma 171300 SDHB 185470 7
Pheochromocytoma 171300 SDHC 602413 7
Pheochromocytoma 171300 TMEM127 613403 7
Pheochromocytoma 171300 VHL 608537 7
Pick disease 172700 MAPT 157140 7
Pick disease 172700 PSEN1 104311 10
PIEBALDISM PBT 172800 KIT 164920
PIEBALDISM PBT 172800 SNAI2 602150 7
Pigmented nodular adrenocortical disease, primary, 1 PPNAD1 610489 PRKAR1A 188830 7
Pitt-Hopkins syndrome PTHs 610954 TCF4 602272 18
Pituitary hormone deficiency, combined 5 CPHD5 182230 HESX1 601802 7
Pituitary hormone deficiency, combined, 1 CPHD1 613038 POU1F1 173110 7
Pituitary hormone deficiency, combined, 2 CPHD2 262600 PROP1 601538 7
Pituitary hormone deficiency, combined, 4 CPHD4 262700 LHX4 602146 7
Plasminogen activator inhibitor-1 deficiency PAI1 173360 SERPINE1 173360 7
Platyspondylic skeletal dysplasia, Torrance type PLSDT 151210 COL2A1 120140 25
Polyglucosan body disease, adult form APBD 263570 GBE1 607839 14
Polymicrogyria, bilateral frontoparietal 606854 GPR54 604110 7
Polymicrogyria, bilateral occipital 612691 FIG4 609390 18
Pontocerebellar hypoplasia type 2A PCH2A 277470 TSEN54 608755 14
Pontocerebellar hypoplasia type 4 PCH4 225753 TSEN54 608755 14
Pontocerebellar hypoplasia type 5 PCH5 610204 TSEN54 608755 14
Pontocerebellar hypoplasia, type 1A PCH1A 607596 VRK1 602168 10
Pontocerebellar hypoplasia, type 1B PCH1B 614678 EXOSC3 606489 7
Porokeratosis 3, disseminated superficial actinic POROK3 175900 MVK 251170 10
Porphyria, acute hepatic ALAD-Porphyrie 612740 ALAD 125270 7
Porphyria, acute intermittent AIP 176000 HMBS 609806 10
Porphyria, congenital erythropoietic CEP 263700 UROS 606938 7
Prader-Willi syndrome PWS 176270 15q11-q13 7
Pregnancy loss, recurrent, susceptibility to, 2 RPRGL2 614390 F2 176930 10
Premature ovarian failure 1 POF1 311360 FMR1 309550 7
Premature ovarian failure 3 POF3 608996 FOXL2 605597 7
Premature ovarian failure 7 POF7 612964 NR5A1 184757 7
Primary lateral sclerosis, juvenile PLSJ 606353 ALS2 606352 21
Prion disease with protracted course 606688 PRNP 176640 7
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEOA3 609286 C10ORF2 606075 7
Progressive external ophthalmoplegia, autosomal recessive 1 PEOB1 258450 POLG 174763 18
Progressive pseudorheumatoid arthropathy of childhood PPAC 208230 WISP3 603400 7
Propionicacidemia 606054 PCCA 232000 18
Propionicacidemia 606054 PCCB 232050 14
Prostate cancer PNCA2 176807 BRCA2 600185 21
Protoporphyria variegata VP 176200 PPOX 600923 10
Protoporphyria, erythropoietic, X-linked EPP 300752 ALAS2 301300 10
Proud syndrome 300004 ARX 300382 7
Pseudoachondroplasia PSACH 177170 COMP 600310 14
Pseudohyperkalemia, familial, 2, due to red cell leak PSHK2 609153 ABCB6 605452 21
Pseudohypoaldosteronism type I, autosomal dominant PHA1A 177735 NR3C2 600983 10
Pseudohypoaldosteronism type IIB PHA2B 614491 WNK4 601844 18
Pseudohypoaldosteronism, Type 1, autosomal recessive PHA1B 264350 SCNN1A 600228 14
Pseudohypoaldosteronism, Type 1, autosomal recessive PHA1B 264350 SCNN1B 600760 14
Pseudohypoaldosteronism, Type 1, autosomal recessive PHA1B 264350 SCNN1G 600761 14
Pseudohypoaldosteronism, type IIC PHA2C 614492 WNK1 605232 7
Pseudohypoaldosteronism, type IID PHA, IID 614495 KLHL3 614495 14
Pseudohypoaldosteronism, type IIE PHAIIE 614496 CUL3 603136 14
Pseudohypoparathyroidism Ia PHP1A 103580 GNAS 139320 18
Pseudohypoparathyroidism Ib PHP1B 603233 GNAS 139320 18
Pseudohypoparathyroidism Ic PHP1C 612462 GNAS 139320 18
Pseudopseudohypoparathyroidism PPHP 612463 GNAS 139320 18
Pyridoxamine-5'-Phospahte Oxidase Deficiency PNPO 610090 PNPO 603287 7
Rapp-Hodgkin syndrome 129400 TP63 603273 14
Refsum disease 266500 PHYH 602026 7
Renal agenesis RHDA1 191830 RET 164761 18
Renal cysts and diabetes syndrome RCAD 137920 HNF1B 189907 7
Renal glucosuria GLYS 233100 SLC5A2 182381 14
Renal tubular acidosis, distal, AR RTA 611590 SLC4A1 109270 18
Restrictive dermopathy, lethal 275210 LMNA 150330 14
Retinitis pigmentosa 1 RP1 180100 RP1 603937 14
Retinitis pigmentosa 13 RP13 600059 PRPF8 607300 18
Retinitis pigmentosa 18 RP18 601414 HPRP3 607301 10
Retinitis pigmentosa 23 RP23 300424 OFD1 300170
Retinitis pigmentosa 3 RP3 300029 RPGR 312610 21
Retinitis pigmentosa 37 RP37 611131 NR2E3 604485 7
Retinitis pigmentosa 4, autosomal dominant or recessive RP4 613731 RHO 180380 7
Retinitis pigmentosa 68 RP68 615725 SLC7A14 615720 7
Retinitis pigmentosa 7 RP7 600132 PRPH2 179605 7
Retinitis pigmentosa 74 RP74 616562 BBS2 606151 14
Retinitis pigmentosa-50 RP50 613194 BEST1 607854 10
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 300455 RPGR 312610 21
Retinitis punctata albescens 136880 PRPH2 179605 7
Retinitis punctata albescens 136880 RHO 180380 7
Retinol dystrophy, iris coloboma, and comedogenic acne syndrome RDCCAS 615147 RBP4 180250 7
Retinoschisis1, X-linked, juvenile RS1 312700 RS1 300839 7
Rett syndrome RTT 312750 MECP2 300005 7
Rhabdoid tumor predisposition syndrome 2 RTPS2 613325 SMARCA4 603254 21
Rhizomelic chondrodysplasia punctata, type 2 GNPAT 222765 GNPAT 602744 14
Rickets, vitamin D-resistant IIA VDDR2A 277440 VDR 601769 10
Rippling muscle disease RMD 606072 CAV3 601253 7
Robinow syndrome RRS 268310 ROR2 602337 10
Roussy-Levy syndrome 180800 MPZ 159440 7
Roussy-Levy syndrome 180800 PMP22 601097 7
Rubinstein-Taybi syndrome RSTS1 180849 CREBBP 600140 21
Rubinstein-Taybi syndrome 2 RSTS2 613684 EP300 602700 21
SADDAN SADDAN 616482 FGFR3 134934 14
Saethre-Chotzen syndrome SCS 101400 FGFR2 176943 14
Sandhoff disease, infantile, juvenile, and adult forms OS 268800 HEXB 606873 14
Scaphocephaly, maxillary retrusion, and mental retardation 609579 FGFR2 176943 14
Scapuloperoneal spinal muscular atrophy SPSMA 181405 TRPV4 605427 14
Schaaf-Yang syndrome SHFYNG 615547 MAGEL2 605283 10
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic SFM 163200 HRAS 190020 7
Schizencephaly 269160 EMX2 600035 7
Schizencephaly 269160 SHH 600725 7
Schizencephaly 269160 SIX3 603714 7
Schizophrenia, susceptibility to SCZD 181500 COMT 116790 7
Schopf-Schulz-Passarge syndrome SSPS 224750 WNT10A 606268 7
Schwannomatosis 162091 NF2 607379 21
Sebastian syndrome SBS 605249 MYH9 160775 21
Seckel syndrome 4 SCKL4 613676 CENPJ 609279 21
SED congenita SEDC 183900 COL2A1 120140 25
Segawa syndrome, recessive 605407 TH 191290 10
Seizures, benign familial infantile 2 BIFS2 605751 PRRT2 614386 7
Seizures, benign familial infantile 3 BFIS3 607745 SCN2A 182390 21
Seizures, benign neonatal, type 2 BFNS2 121201 KCNQ3 602232 14
Seizures, scoliosis, and macrocephaly syndrome SSMS 616682 EXT2 608210 14
Septooptic Dysplasia SOD 182230 HESX1 601802 7
SERKAL syndrome 158330 WNT4 603490 7
Short QT syndrome 2 SQT2 609621 KCNQ1 607542 14
Short QT syndrome 3 SQT3 609622 KCNJ2 600681 7
Short QT syndrome-1 SQT1 609620 KCNH2 152427 14
Short stature, idiopathic familial ISS 300582 SHOX/SHOY 312865 7
Sick sinus syndrome 1 SSS1 608567 SCN5A 600163 7
Sickle cell anemia 603903 HBB 141900 7
Silver spastic paraplegia syndrome SPG17 270685 BSCL2 606158 7
Simpson-Golabi-Behmel syndrome SGBS1 312870 GPC3 300037 10
Simpson-Golabi-Behmel syndrome SGBS1 312870 GPC3 300037 7
Simpson-Golabi-Behmel syndrome, type 2 SGBS2 300209 OFD1 300170
SMED Strudwick type SEMDSTWK 184250 COL2A1 120140 25
Smith-Lemli-Opitz syndrome SLOS 270400 DHCR7 602858 7
Smith-Magenis syndrome SMS 182290 RAI1 606586 14
Sneddon syndrome 182410 CECR1 607575 14
Sotos syndrome SOTOS1 117550 NSD1 606681 21
Sotos syndrome SOTOS1 117550 NSD1 606681 7
SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE SACS 270550 SACS 604490 7
Spastic paralysis, infantile onset ascending IAHSP 607225 ALS2 606352 21
Spastic paraplegia 11, autosomal recessive SPG11 604360 SPG11 610844 21
Spastic Paraplegia 2 SPG2 312920 PLP1 300401 7
Spastic Paraplegia 3A SPG3A 182600 SPG3A 606439 14
Spastic Paraplegia 4 SPG4 182601 SPG4 604277 18
Spastic paraplegia 43, autosomal recessive SPG43 615043 C19orf12 614297 7
Spastic paraplegia 7, autosomal recessive SPG7 607259 SPG7 602783 14
Spastic paraplegia type 31 SPG31 610250 REEP1 609139 7
Spermatogenic failure 8 SPGF8 612965 NR5A1 184757 7
Spermatogenic failure, nonobstructive, Y-linked SPGFY2 415000 AZF 415000 7
Spherocytosis, 4 SPH4 612653 SLC4A1 109270 14
Spherocytosis, type 1 SPH1 182900 ANK1 612641 21
Spina bifida NTD 182940 VANGL2 600533 7
SpIna muscular atrophy 1-3 SMA 1-3 253300 SMN1 600354 7
Spina muscular atrophy, late-onset, Finkel type 605704 VAPB 605704 7
Spinal and bulbar muscular atrophy SBMA 313200 AR 313700 7
Spinal muscular atrophy 1-3 SMA 1-3 253300 SMN1 600354 7
Spinal muscular atrophy, distal, congenital nonprogressive HMN8 313200 TRPV4 605427 14
Spinal Muscular Atrophy, distal, X-linked 3 SMAX3 300489 ATP7A 300011 21
Spinocerebellar Ataxia 01 SCA1 164400 ATXN1 601556 7
Spinocerebellar Ataxia 02 SCA2 183090 ATXN2 601517 7
Spinocerebellar Ataxia 03 SCA3 / MJD 109150 ATXN3 607047 7
Spinocerebellar Ataxia 05 SCA5 600224 SPTBN2 604985 7
Spinocerebellar Ataxia 06 SCA6 183086 CACNA1A 601011 7
Spinocerebellar Ataxia 07 SCA7 164500 ATXN7 607640 7
Spinocerebellar Ataxia 08 SCA8 608768 ATXN8OS 603680 7
Spinocerebellar Ataxia 10 SCA10 603516 ATXN10 611150 7
Spinocerebellar Ataxia 11 SCA11 604432 TTBK2 611695 7
Spinocerebellar Ataxia 12 SCA12 604326 PPP2R2B 604325 7
Spinocerebellar Ataxia 13 SCA13 605259 KCNC3 176264 7
Spinocerebellar Ataxia 14 SCA14 605361 PRKCG 176980 7
Spinocerebellar Ataxia 14 SCA14 605361 PRKCG 176980 14
Spinocerebellar Ataxia 15 SCA15 606658 ITPR1 147265 7
Spinocerebellar Ataxia 17 SCA17 607136 TBP 600075 7
Spinocerebellar ataxia 19 SCA19, SCA22 607346 KCND3 605411 10
Spinocerebellar Ataxia 23 SCA23 610245 PDYN 131340 7
Spinocerebellar Ataxia 27 SCA27 609307 FGF14 601515 7
Spinocerebellar Ataxia 28 SCA28 610246 AFG3L2 604581 7
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive SCAN1 607250 TDP1 607198 7
Spinocerebellar Ataxia, autosomal recessive 1 SCAR1 606002 SETX 608465 21
Spinocerebellar ataxia, autosomal recessive 10 SCAR10 613728 ANO10 613726 7
Spinocerebellar ataxia, autosomal recessive 14 SCAR14 615386 SPTBN2 604985
Spinocerebellar ataxia, autosomal recessive 7 SCAR7 609270 TPP1 607998 10
Spondylocarpotarsal synostosis syndrome SCT 272460 FLNB 603381 25
Spondyloepimetaphyseal dysplasia SEMD 608728 MATN3 602109 7
Spondyloepiphyseal dyspalsia, Maroteaux type SED 184095 TRPV4 605427 14
Spondyloepiphyseal dysplasia with congenital joint dislocation 143095 CHST3 603799 7
Spondylometaphyseal dysplasia, Kozlowski type SMDK 184252 TRPV4 605427 14
Spondyloperipheral dysplasia SEMDSTWK 271700 COL2A1 120140 25
Stapes ankylosis with broad thumb and toes 184460 NOG 602991 7
Stickler syndrome, type I 108300 COL2A1 120140 2
Stickler syndrome, type I, nonsyndromic ocular 609508 COL2A1 120140 25
Stickler syndrome, type IV STL4 614134 COL9A1 120210 7
Stickler syndrome, type V STL5 614284 COL9A2 120260 7
Stiff skin syndrome SSKS 184900 FBN1 134797 28
Stomatin-deficient cryohydrocytosis with neurologic defects SDCHCN 608885 SLC2A1 138140 10
Stroke, ischemic, susceptibility to 601367 F2 176930 10
Stroke, ischemic, susceptibility to 601367 F5 612309 3
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome STWS 601559 LIFR 151443 18
Subcortical laminal heteropia, X-linked SCLH 300067 DCX 300121 7
Succinic semialdehyde dehydrogenase deficiency SSADHD 271980 ALDH5A1 610045 10
Sudden infant death syndrome, susceptibility to SIDS 272120 SCN5A 600163 21
Supranuclear palsy, progressive PSNP1 601104 MAPT 157140 7
Supranuclear palsy, progressive atypical 172700 MAPT 157140 7
Susceptibility to Breast and Colorectal Cancer 114480 CHEK2 604373 7
Symphalangism, proximal SYM1 185800 NOG 602991 7
Syndactyly, type III SDTY3 186100 GJA1 121014 7
Syndactyly, type V BDD 186300 HOXD13 142989 7
Synpolydactyly, type II SPD1 186000 HOXD13 142989 7
Tarsal-carpal coalition syndrome TCC 186570 NOG 602991 7
Tay-Sachs syndrome TSD 272800 HEXA 606869 14
Telangiectasia, hereditary hemorrhagic, type 1 HHT1 187300 ENG 131195 14
Telangiectasia, hereditary hemorrhagic, type 2 HHT2 600376 ACVRL1 601284 7
Terminal osseous dysplasia TOD 300244 FLNA 300017 21
Tetralogy of Fallot TOF 187500 JAG1 601920 21
Thanatophoric dysplasia, type I TD1 187600 FGFR3 134934 18
Thanatophoric dysplasia, type II TD2 187601 FGFR3 134934 18
Thiopurin S-Methyltransferase deficiency 610460 TPMT 187680 3
Thrombocythemia 3 THCYT3 614521 JAK2 147796 21
Thrombocytopenia 1 THC1 313900 WAS 300392 10
Thrombocytopenia 4 THC4 612004 CYCS 123970 7
Thrombocytopenia with beta-thalassemia, X-linked XLTT 314050 GATA1 305371 7
Thrombocytopenia-2 THC2 188000 MASTL 608221 10
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia XLTDA 300367 GATA1 305371 7
Thromboembolism, susceptibility to THPH1 188050 MTHFR 607093 3
Thrombophilia due to thrombin defect THPH1 188050 F2 176930 10
Thrombophilia, susceptibility to, due to factor V Leiden THPH2 188055 F5 612309 7
Thyroid Dyshomogenesis TDH1 274400 SLC5A5 601843 21
Thyroid dyshormonogenesis 2A TDH2A 606765 TPO 274500 14
Thyroid hormone resistance PRTH, GRTH 188570 THRB 190160 7
Thyroid hormone resistance, autosomal recessive 274300 THRB 190160 7
Thyroid hormone resistance, selective pituitary 145650 THRB 190160 7
Tooth agenesis, selective, 1 STHAG1 106600 MSX1 142983 7
Tooth agenesis, selective, 3 STHAG3 604625 PAX9 167416 7
Tooth agenesis, selective, 4 STHAG4 150400 WNT10A 606268 7
Tooth agenesis, selective, X-linked 1 STHAGX1 313500 EDA 300451 10
Townes-Brokes syndrome TBS 107480 SALL1 602218 10
Treacher Collins-Franceschatti syndrome TCS1 154500 TCOF1 606847 18
TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 190300 LRRN6A (LINGO1) 609791
Tremor, hereditary essential, 4 ETM4 614782 FUS 137070 14
Trichorhinophalangeal syndrome, type I TRPS1 190350 TRPS1 604386 14
Trichorhinophalangeal syndrome, type III TRPS3 190651 TRPS1 604386 14
Trichotillomania TTM 613229 SLITRK1 609678 0
Trigonocephaly 1 TRIGNO1 190400 FGFR1 136350 14
Trigonocephaly 2 TRIGNO2 614485 FREM1 608944
Trimethylaminuria TMAU 602079 FMO3 136132 7
Tropical calcific pancreatitis TCP 608189 SPINK1 167790 7
Troyer syndrome SPG20 275900 SPG20 607111 14
Tuberous sclerosis 1 TSC1 191100 TSC1 605284 21
Tuberous sclerosis 2 TSC2 191100 TSC2 191092 21
Tumoral calcinosis, hyperphosphatemic, familial HFTC 211900 FGF23 605380 7
Ulna and fibula, absence of, with sever limb deficiency 276820 WNT7A 601570 7
Ulnar-Mammary Syndrom UMS 181450 TBX3 601621 10
Usher Syndrome 1B USH1 276900 MYO7A 276903 21
UV-sensitive syndrome 1 UVSS1 133540 ERCC6 609413 21
UV-sensitive syndrome 2 UVSS2 614621 ERCC8 609412 10
van Buchem disease, type 2 VBCH2 607636 LRP5 603506 18
Van Den Ende-Gupta syndrome - VDEGS VDEGS 600920 SCARF2 613619 10
van der Woude syndrome VWS 119300 IRF6 607199 7
Vasculopathy, retinal, with cerebral leukodystrophy RVCL 192315 TREX1 606609 7
VATER association with macrocephaly and ventriculomegaly VACTERL-H 276950 PTEN 601728 7
Velocardialfacial syndrome VCFS 192430 22q11.2 188400 7
Ventricular fibrillation, familial, 1 VF1 603829 SCN5A 600163 7
Ventricular tachycardia, catecholaminergic polymorphic, 1 CPVT1 604772 RYR2 180902 10
Vitamin D-dependent rickets, type I VDDR1A 264700 CYP27B1 609506 7
Vitreoretinochoroidopathy VRCP 193220 BEST1 607854 7
Vitreoretinopathy, neovascular inflammatory VRNI 193235 CAPN5 602537
VLCAD definiciency ACADVLD 201475 ACADVL 609575 14
Vohwinkel syndrome 124500 GJB2 (Cx26) 121011 7
Von Hippel-Lindau syndrome VHL 193300 VHL 608537 7
von Willebrand disease, platelet-type VWDP 177820 GP1BA 606672 7
Waardenburg Syndrome WS2A 193510 MITF 156845 10
Waardenburg syndrome, type 1 WS1 193500 PAX3 606597 10
Waardenburg Syndrome, TYPE 2E WS2E 611584 SOX10 602229 7
Waardenburg syndrome, type 3 WS3 148820 PAX3 606597 10
Waardenburg syndrome, type 4A WS4A 277580 EDNRB 131244 7
Waardenburg syndrome, type 4B WS4B 613265 EDN3 131242 7
Waardenburg syndrome, type 4C WS4C 613266 SOX10 602229 7
Waardenburg syndrome/albinism WS2-OA 103470 TYR 606933 7
Waardenburg syndrome/ocular albinism, digenic WS2A 103470 MITF 156845 10
Waardenburg-Syndrome, type 2D WS2D 608890 SNAI2 602150 7
Watson syndrome WTSN 193520 NF1 613113 21
Weill-Marchesani syndrome 2, dominant WMS2 608328 FBN1 134797 28
West syndrome EIEE1 308350 ARX 300382 7
Wiedemann-Steiner sydrome WDSTS 605130 KMT2A 159555
Williams-Beuren syndrome WBS 194050 7q11.2 7
Wilms tumor WT1 194070 BRCA2 600185 21
Wilms tumor WT1 194070 WT1 607102 10
Wilson disease WD 277900 ATP7B 606882 7
Wilson-Turner syndrome WTS 309585 HDAC8 300269 10
Wiskott-Aldrich syndrome WAS 301000 WAS 300392 10
Yunis-Varon syndrome YVS 216340 FIG4 609390 18