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Illumina Laboratory Services (Illumina)

Summary of submissions to ClinVar

Total submissions: 209569

Gene

GeneSubmissionsLast Updated
AAAS51Feb 20, 2020
AARS181Feb 10, 2023
AARS2132Feb 20, 2020
ABAT153Feb 20, 2020
ABCA1510Nov 6, 2023
ABCA12170Feb 20, 2020
ABCA3204Feb 20, 2020
ABCA4605Apr 25, 2024
ABCB11112Mar 19, 2024
ABCB4127Mar 19, 2024
ABCB718Feb 20, 2020
ABCC2132Feb 20, 2020
ABCC8402Dec 20, 2021
ABCC9141Dec 14, 2020
ABCD173Nov 6, 2023
ABCG591Feb 20, 2020
ABCG8120Feb 20, 2020
ABHD1251Feb 20, 2020
ABHD181Feb 20, 2020
ABHD5121Feb 20, 2020
ABI14Feb 20, 2020
ABL11Dec 13, 2022
ACAD861Feb 20, 2020
ACAD967Apr 25, 2024
ACADL3Feb 1, 2019
ACADM52Aug 9, 2021
ACADS59May 23, 2024
ACADSB145Feb 20, 2020
ACADVL72Feb 20, 2020
ACAN1Aug 9, 2021
ACAT165Feb 20, 2020
ACBD514Feb 20, 2020
ACBD629Feb 20, 2020
ACE178Feb 20, 2020
ACO21Sep 19, 2023
ACOX1178Feb 20, 2020
ACSL41Oct 7, 2021
ACTA194Mar 19, 2024
ACTA288Feb 20, 2020
ACTA2-AS122Feb 20, 2020
ACTB3Dec 20, 2021
ACTC1378Feb 20, 2020
ACTG21Mar 19, 2024
ACTN2115Feb 20, 2020
ACVR150Jul 16, 2020
ACVR2B245Feb 20, 2020
ACVR2B-AS13Feb 20, 2020
ACVRL189Feb 20, 2020
ACYP11Feb 20, 2020
ADA40Feb 20, 2020
ADAM967Jun 18, 2024
ADAMTS10117Feb 20, 2020
ADAMTS13129Feb 20, 2020
ADAMTS17344Mar 19, 2024
ADAMTS2197Jul 9, 2024
ADAMTS48Feb 20, 2020
ADAMTSL2132Feb 20, 2020
ADAMTSL4133Feb 20, 2020
ADAMTSL4-AS11Oct 18, 2016
ADAMTSL4-AS265Feb 20, 2020
ADAR132Feb 20, 2020
ADGRG1111Feb 20, 2020
ADGRG328Feb 20, 2020
ADGRV1409Feb 20, 2020
ADK30Feb 20, 2020
ADNP5Feb 10, 2023
ADNP-AS116Dec 16, 2021
ADSL28Feb 20, 2020
AFG3L256Dec 20, 2021
AGA60Feb 20, 2020
AGA-DT7Feb 20, 2020
AGK145Feb 20, 2020
AGK-DT4Oct 18, 2016
AGL127Feb 20, 2020
AGMO2Oct 7, 2021
AGO22Sep 19, 2023
AGPAT279Nov 6, 2023
AGPS155Feb 20, 2020
AGT71Feb 20, 2020
AGTR155Feb 20, 2020
AGXT63Feb 20, 2020
AHCY43Feb 20, 2020
AHDC12Aug 9, 2021
AHI1119Feb 20, 2020
AICDA61Feb 20, 2020
AIFM127Feb 20, 2020
AIMP21Mar 15, 2024
AIP39Mar 19, 2024
AIPL1288Feb 20, 2020
AIRE1Feb 10, 2023
AKAP9110Feb 1, 2019
AKR1D196Feb 20, 2020
AKT314Feb 20, 2020
ALAD88Feb 20, 2020
ALAS232Mar 19, 2024
ALB54Feb 20, 2020
ALDH18A177Nov 6, 2023
ALDH3A278Feb 20, 2020
ALDH4A1114Feb 20, 2020
ALDH5A1135Feb 20, 2020
ALDH6A196Feb 20, 2020
ALDH7A1142Dec 14, 2020
ALDOA22Oct 18, 2016
ALDOB64Feb 20, 2020
ALG12Dec 16, 2021
ALG1147Feb 20, 2020
ALG1276Feb 20, 2020
ALG23Oct 18, 2016
ALG338Feb 20, 2020
ALG666Feb 20, 2020
ALG837Feb 20, 2020
ALG984Feb 20, 2020
ALK167Feb 20, 2020
ALMS156Feb 20, 2020
ALOX12B72Feb 20, 2020
ALOXE375Feb 20, 2020
ALPL71Dec 13, 2022
ALS2226Feb 20, 2020
ALX4164Feb 20, 2020
AMACR87Feb 20, 2020
AMER11Mar 19, 2024
AMMECR11Mar 19, 2024
AMPD12Oct 18, 2016
AMPD3111Feb 20, 2020
AMT49Dec 14, 2020
ANAPC1546Feb 20, 2020
ANG34Feb 20, 2020
ANGPT25Feb 20, 2020
ANK1428Jun 29, 2023
ANK2251Feb 20, 2020
ANKH445Feb 20, 2020
ANKIB116Feb 20, 2020
ANKRD156Feb 20, 2020
ANKRD114Mar 19, 2024
ANKRD171Dec 16, 2021
ANKRD26138Feb 20, 2020
ANKS1B1Oct 7, 2022
ANO1091Feb 20, 2020
ANO5336Feb 20, 2020
ANOS11Feb 10, 2023
ANTXR2146Feb 20, 2020
AOPEP99Feb 20, 2020
AP3B187Feb 20, 2020
AP3M14Feb 20, 2020
AP4M11Sep 19, 2023
AP5Z1284Feb 20, 2020
APC194Feb 20, 2020
APEX21Feb 20, 2020
APIP13Feb 20, 2020
APOA142Feb 20, 2020
APOA1-AS28Feb 20, 2020
APOA29Feb 20, 2020
APOB623Jun 30, 2023
APOB3'MAR31Feb 20, 2020
APOC223Feb 20, 2020
APOC4-APOC223Feb 20, 2020
APP79Feb 20, 2020
APRT55Feb 20, 2020
APTX74Feb 10, 2023
AQP112Oct 7, 2021
AQP2102Feb 20, 2020
AQP5-AS184Feb 20, 2020
AR2Feb 10, 2023
AREL11Feb 20, 2020
ARFGEF13Mar 15, 2024
ARFGEF1-DT24Feb 20, 2020
ARFGEF2144Feb 20, 2020
ARG120Feb 20, 2020
ARHGAP315Oct 18, 2016
ARHGEF67Oct 18, 2016
ARID1A4Jun 29, 2023
ARID1B9Jun 18, 2024
ARID21Dec 18, 2020
ARL13B2Feb 1, 2019
ARL14EP-DT25Feb 20, 2020
ARL650Feb 20, 2020
ARMCX5-GPRASP21Oct 7, 2021
ARMS243Feb 20, 2020
ARSA131Feb 20, 2020
ARSB136Feb 20, 2020
ARSL1Dec 14, 2020
ARX1Dec 14, 2020
ASAH194Dec 14, 2020
ASCC12Mar 15, 2024
ASH1L5Jun 29, 2023
ASL46Dec 16, 2021
ASPA16Apr 25, 2024
ASPM248Apr 25, 2024
ASS165Feb 20, 2020
ASTN2133Feb 20, 2020
ASXL18Mar 19, 2024
ASXL24Mar 19, 2024
ASXL33Mar 19, 2024
ATAD3A7Jun 1, 2022
ATCAY137Feb 20, 2020
ATL145Nov 6, 2023
ATM272Apr 12, 2024
ATP13A2117Jul 16, 2020
ATP1A2265Nov 15, 2023
ATP1A3146Mar 19, 2024
ATP2A168Feb 20, 2020
ATP2A1-AS11Feb 20, 2020
ATP2A287Feb 20, 2020
ATP2C170Feb 20, 2020
ATP5F1A1Sep 19, 2023
ATP6AP11Mar 19, 2024
ATP6V0A2185Feb 20, 2020
ATP6V0A489Apr 25, 2024
ATP6V1B152Feb 20, 2020
ATP6V1B1-AS13Feb 20, 2020
ATP7A1Dec 20, 2021
ATP7B199Apr 25, 2024
ATP8B1152Apr 25, 2024
ATP8B1-AS195Apr 25, 2024
ATPAF234Feb 20, 2020
ATR129Dec 14, 2020
ATRIP66Feb 20, 2020
ATRIP-TREX166Feb 20, 2020
ATRX1Dec 13, 2022
ATXN7L3-AS11Aug 9, 2021
AUH26Feb 20, 2020
AUP114Feb 20, 2020
AURKC29Feb 20, 2020
AVIL4Feb 20, 2020
AVPR241Feb 20, 2020
AXDND124Dec 14, 2020
AXIN2117Feb 20, 2020
B3GALNT214Feb 20, 2020
B3GAT32Feb 20, 2020
B3GLCT96Feb 20, 2020
B4GALT113Oct 18, 2016
B9D117Feb 20, 2020
BAAT87Feb 20, 2020
BACH21Dec 14, 2020
BAG238Feb 20, 2020
BAG3139Nov 6, 2023
BANF127Feb 20, 2020
BAP173Apr 25, 2024
BARD163Apr 25, 2024
BBOF194Feb 20, 2020
BBS174Apr 25, 2024
BBS1079Feb 20, 2020
BBS1263Apr 25, 2024
BBS273Feb 20, 2020
BBS457Feb 20, 2020
BBS756Feb 20, 2020
BBS993Apr 1, 2020
BCHE54Feb 10, 2023
BCKDHA67Apr 25, 2024
BCKDHB74Feb 20, 2020
BCL11A2Aug 9, 2021
BCL11B1Dec 20, 2021
BCOR2Aug 9, 2021
BCORL11Feb 10, 2023
BCS1L70Apr 25, 2024
BEST1216Feb 20, 2020
BFSP238Feb 20, 2020
BFSP2-AS121Feb 20, 2020
BGN1Mar 19, 2024
BICD21Nov 15, 2023
BIN184Feb 20, 2020
BIVM-ERCC5114Feb 20, 2020
BLK99Feb 20, 2020
BLM75Apr 25, 2024
BLOC1S1-RDH528Feb 20, 2020
BLOC1S32Oct 18, 2016
BLOC1S63Oct 18, 2016
BMP1134Feb 20, 2020
BMP1519Feb 20, 2020
BMP4112Feb 20, 2020
BMPER113Feb 20, 2020
BMPR1A64Feb 20, 2020
BMPR1B122Feb 20, 2020
BMPR2196Feb 20, 2020
BNAT17Feb 20, 2020
BOLA312Feb 20, 2020
BORCS86Feb 20, 2020
BORCS8-MEF2B6Feb 20, 2020
BPNT2172Feb 20, 2020
BPTF1Dec 14, 2020
BRAF96Dec 16, 2021
BRAT12Sep 19, 2023
BRCA1147Nov 6, 2023
BRCA2457Apr 12, 2024
BRIP1179Apr 25, 2024
BRPF11Dec 14, 2020
BRWD3105Mar 19, 2024
BSCL276Feb 20, 2020
BSND41Feb 20, 2020
BTD27Apr 25, 2024
BTK40Dec 16, 2021
C10orf10577Feb 20, 2020
C10orf5564Feb 20, 2020
C11orf65136Aug 9, 2021
C12orf4325Feb 20, 2020
C12orf572Dec 20, 2021
C14orf3932Feb 20, 2020
C17orf10735Sep 8, 2024
C19orf12140Apr 1, 2020
C1QTNF3-AMACR87Feb 20, 2020
C1QTNF5270Sep 8, 2024
C1orf16711Oct 18, 2016
C2209Feb 20, 2020
C2-AS122Feb 20, 2020
C2orf8851Feb 20, 2020
C3381Jul 11, 2024
C3orf804Feb 20, 2020
C4orf462Oct 18, 2016
C9orf7286Feb 20, 2020
CA230Feb 20, 2020
CA3-AS17Feb 20, 2020
CA430Feb 20, 2020
CABP4123Feb 20, 2020
CACNA1A10Mar 19, 2024
CACNA1B1Aug 9, 2021
CACNA1C26Sep 19, 2023
CACNA1C-AS12Oct 18, 2016
CACNA1D1Dec 14, 2020
CACNA1E2Feb 10, 2023
CACNA1I1Feb 10, 2023
CACNA1S238Feb 10, 2023
CACNA2D4173Feb 20, 2020
CACNB220Oct 18, 2016
CACNB4250Feb 20, 2020
CAD2Dec 14, 2020
CADM31Apr 12, 2024
CADM3-AS11Apr 12, 2024
CAMK2B1Dec 20, 2021
CAMK2G1Apr 1, 2020
CAMK41Oct 7, 2021
CAMTA12Nov 15, 2023
CANT1102Feb 20, 2020
CAPN3138Jul 14, 2023
CARD141Feb 1, 2019
CARD966Feb 20, 2020
CASD120Aug 9, 2021
CASK2Dec 20, 2021
CASP10121Feb 20, 2020
CASP857Feb 20, 2020
CASQ2147Feb 20, 2020
CASR250Jun 29, 2023
CAST137Feb 20, 2020
CATIP-AS266Feb 20, 2020
CATSPER171Feb 20, 2020
CAV3109Dec 20, 2021
CAVIN163Feb 20, 2020
CBARP4Feb 20, 2020
CBL263Mar 19, 2024
CBLIF31Feb 20, 2020
CBR455Feb 20, 2020
CBS88Apr 25, 2024
CC2D2A266Feb 20, 2020
CCBE1216Feb 20, 2020
CCDC126Feb 20, 2020
CCDC14014Feb 20, 2020
CCDC321Sep 19, 2023
CCDC333Oct 18, 2016
CCDC39116Feb 20, 2020
CCDC40177May 23, 2024
CCDST7Sep 8, 2024
CCN620Feb 20, 2020
CCNF1Feb 20, 2020
CCNH91Dec 16, 2021
CCT5100Feb 20, 2020
CD1944Feb 20, 2020
CD2AP131Feb 20, 2020
CD2AP-DT10Feb 20, 2020
CD3693Feb 20, 2020
CD3D17Feb 20, 2020
CD3E33Feb 20, 2020
CD3G32Apr 25, 2024
CD4036Feb 20, 2020
CD4661Feb 20, 2020
CD6313Feb 20, 2020
CD741Oct 18, 2016
CD9611Feb 1, 2019
CDAN1146Feb 20, 2020
CDC637Feb 20, 2020
CDC73315Feb 20, 2020
CDCA7L25Feb 20, 2020
CDH1110Feb 20, 2020
CDH231055Dec 16, 2021
CDH23-AS130Feb 20, 2020
CDH3112Feb 20, 2020
CDH3-AS127Feb 20, 2020
CDHR1169Feb 20, 2020
CDK132Sep 19, 2023
CDK440Feb 20, 2020
CDK5RAP2118Feb 20, 2020
CDKN1B72Feb 20, 2020
CDKN1C2Mar 19, 2024
CDKN2A2Mar 19, 2024
CDON256Jun 1, 2022
CENPL4Feb 20, 2020
CEP12815Feb 20, 2020
CEP152211May 23, 2024
CEP290714Feb 20, 2020
CEP41139Feb 20, 2020
CEP85L40Nov 6, 2023
CERKL87Sep 8, 2024
CETP54Feb 20, 2020
CFAP11910Oct 18, 2016
CFAP1261Oct 18, 2016
CFAP418118Feb 20, 2020
CFAP418-AS113Feb 20, 2020
CFAP9217Feb 20, 2020
CFB187Feb 20, 2020
CFH332Feb 20, 2020
CFHR575Feb 20, 2020
CFI59Feb 20, 2020
CFL242Feb 20, 2020
CFTR169May 23, 2024
CFTR-AS122May 23, 2024
CGREF143Feb 20, 2020
CHD34Feb 10, 2023
CHD7254Mar 19, 2024
CHD83Dec 14, 2020
CHEK249Mar 19, 2024
CHIT190Feb 20, 2020
CHKB42Feb 20, 2020
CHKB-CPT1B42Feb 20, 2020
CHMP2B79Feb 20, 2020
CHN151Feb 20, 2020
CHPT197Feb 20, 2020
CHRNA198Feb 20, 2020
CHRNA2116Dec 14, 2020
CHRNB163Feb 20, 2020
CHRNB266Feb 20, 2020
CHRND164Feb 20, 2020
CHRNE111Sep 8, 2024
CHRNG180Feb 20, 2020
CHROMR25Feb 20, 2020
CHST3635Feb 20, 2020
CHST6193Feb 20, 2020
CIAO31Mar 19, 2024
CIAPIN15Feb 20, 2020
CIC3Feb 10, 2023
CIITA146Sep 8, 2024
CIMIP311Feb 20, 2020
CLASP13Oct 7, 2021
CLCC117Feb 20, 2020
CLCN185Dec 20, 2021
CLCN31Jun 1, 2022
CLCN41Dec 20, 2021
CLCN5108Feb 20, 2020
CLCN7152Feb 20, 2020
CLDN1454Feb 20, 2020
CLDN14-AS154Feb 20, 2020
CLDN1677Feb 20, 2020
CLDN1967Feb 20, 2020
CLN390Feb 20, 2020
CLN582Feb 20, 2020
CLN684Feb 10, 2023
CLRN160Feb 20, 2020
CLRN1-AS111Feb 20, 2020
CLTC2Dec 16, 2021
CMYA52Oct 7, 2021
CNGA153Feb 20, 2020
CNGA392Dec 14, 2020
CNGB1210Feb 20, 2020
CNGB3220Feb 20, 2020
CNNM259Dec 14, 2020
CNNM485Feb 20, 2020
CNOT31Jul 14, 2023
CNTNAP12Jun 1, 2022
CNTNAP2396Feb 20, 2020
CNTNAP51Oct 7, 2021
COCH46Feb 20, 2020
COG169Feb 20, 2020
COG5121Feb 20, 2020
COG686Feb 20, 2020
COG762Feb 20, 2020
COG844Feb 20, 2020
COL10A185Feb 20, 2020
COL11A1364May 23, 2024
COL11A2543Feb 20, 2020
COL17A1168Feb 20, 2020
COL18A1206Feb 20, 2020
COL1A1472Dec 16, 2021
COL1A2244Aug 9, 2021
COL1A2-AS112Feb 20, 2020
COL2A1257Mar 19, 2024
COL3A1116Feb 20, 2020
COL4A1477Apr 12, 2024
COL4A2227Jun 1, 2022
COL4A2-AS127Feb 20, 2020
COL4A2-AS214Feb 20, 2020
COL4A3192Sep 8, 2024
COL4A4255Dec 13, 2022
COL4A53Nov 15, 2023
COL5A1283Sep 19, 2023
COL5A2202Feb 20, 2020
COL6A1201Jun 29, 2023
COL6A2367Jul 16, 2020
COL6A3330May 28, 2024
COL7A1250Feb 20, 2020
COL9A19Feb 1, 2019
COL9A293Feb 20, 2020
COL9A35Feb 1, 2019
COLQ81Feb 20, 2020
COMETT8Feb 20, 2020
COMP128Dec 14, 2020
COPB24Feb 20, 2020
COQ23Feb 1, 2019
COQ72Sep 19, 2023
COQ7-DT1Jun 29, 2023
COQ8A148Sep 8, 2024
COQ941Feb 20, 2020
COX10170Feb 20, 2020
COX10-DT2Oct 18, 2016
COX15124Feb 20, 2020
COX201Sep 19, 2023
COX4I21Oct 18, 2016
COX6B19Feb 20, 2020
CP162Feb 20, 2020
CPA655Feb 20, 2020
CPAP237Feb 20, 2020
CPLANE1215Aug 9, 2021
CPLANE1-AS14Feb 20, 2020
CPO92Feb 20, 2020
CPOX80Feb 20, 2020
CPS1128Apr 1, 2020
CPT261Feb 20, 2020
CRB1221Feb 20, 2020
CREBBP6Jun 1, 2022
CRPPA214Feb 20, 2020
CRPPA-AS111Feb 20, 2020
CRTAP185Jun 11, 2024
CRX411Feb 20, 2020
CRYAA29Feb 20, 2020
CRYAB45Feb 20, 2020
CRYBA428Feb 20, 2020
CRYBB128Feb 20, 2020
CRYBB341Feb 20, 2020
CRYGD26Feb 20, 2020
CSF1R132Dec 16, 2021
CSNK2A12Jun 29, 2023
CSNK2B2Jun 11, 2024
CSRP344Feb 20, 2020
CSRP3-AS118Feb 20, 2020
CSTB27Feb 20, 2020
CTBP11Mar 19, 2024
CTBP1-AS1Mar 19, 2024
CTC1229Feb 20, 2020
CTCF4Mar 15, 2024
CTF13Oct 18, 2016
CTH54Feb 20, 2020
CTNNB15Mar 19, 2024
CTNND21Jun 18, 2024
CTNS321Feb 20, 2020
CTNS-AS133Feb 20, 2020
CTRC35Feb 20, 2020
CTSA47Feb 20, 2020
CTSC97Sep 8, 2024
CTSD73Feb 20, 2020
CTSK19Feb 20, 2020
CTXN2-AS120Feb 20, 2020
CUBN345Sep 8, 2024
CUL3183Mar 15, 2024
CUL4B3Nov 15, 2023
CUL7129Feb 20, 2020
CUTC13Feb 20, 2020
CYB561A37Oct 18, 2016
CYB5R31Dec 14, 2020
CYCS13Oct 18, 2016
CYFIP21Jul 16, 2020
CYGB56Feb 20, 2020
CYLD345Feb 20, 2020
CYLD-AS161Feb 20, 2020
CYLD-AS2291Feb 20, 2020
CYP11A131Sep 8, 2024
CYP11B1238Feb 20, 2020
CYP11B2276Feb 20, 2020
CYP17A130Jun 11, 2024
CYP17A1-AS13Feb 20, 2020
CYP19A190Feb 20, 2020
CYP1B1250Feb 20, 2020
CYP21A21Dec 14, 2020
CYP24A199Sep 8, 2024
CYP27A158Sep 8, 2024
CYP27B138Feb 20, 2020
CYP4F2266Feb 20, 2020
CYP4V2290Feb 20, 2020
CYP51A11Oct 18, 2016
CYP7B146Feb 20, 2020
CZIB3Oct 18, 2016
D2HGDH118Feb 20, 2020
DAAM223Feb 20, 2020
DARS244Feb 20, 2020
DBH129Feb 20, 2020
DBH-AS115Feb 20, 2020
DBNL26Feb 20, 2020
DBT170Feb 20, 2020
DCAF17119Feb 20, 2020
DCLRE1C102Feb 20, 2020
DCN41Feb 20, 2020
DCTN1169Feb 20, 2020
DCX1Jul 14, 2023
DDB237Feb 20, 2020
DDC55Feb 20, 2020
DDC-AS18Feb 20, 2020
DDOST59Feb 20, 2020
DDR256Mar 19, 2024
DDX3X7Mar 19, 2024
DDX412Mar 19, 2024
DEGS14Mar 19, 2024
DENND1174Feb 20, 2020
DENND4A19Feb 20, 2020
DEPDC52Mar 19, 2024
DES170Apr 12, 2024
DES-LCR11Feb 20, 2020
DGUOK33Feb 20, 2020
DGUOK-AS16Feb 20, 2020
DHCR2492Feb 20, 2020
DHCR7103Sep 8, 2024
DHDDS67Jun 29, 2023
DHH30Feb 20, 2020
DHODH76Feb 20, 2020
DHPS2Mar 19, 2024
DHTKD12Dec 16, 2021
DHX91Nov 6, 2023
DIAPH1119Feb 20, 2020
DIAPH31Dec 14, 2020
DICER1176Mar 19, 2024
DIPK1A15Feb 20, 2020
DIS3L299Feb 20, 2020
DISP11Mar 19, 2024
DKC12Mar 19, 2024
DLAT1Feb 1, 2019
DLD223Feb 20, 2020
DLG49Nov 15, 2023
DLL3133Feb 20, 2020
DLST1Nov 15, 2023
DLX369Feb 20, 2020
DMD217Dec 7, 2023
DMP166Feb 20, 2020
DNAAF193Feb 20, 2020
DNAAF1136Sep 8, 2024
DNAAF1945Feb 20, 2020
DNAAF285Sep 8, 2024
DNAAF3118Feb 20, 2020
DNAAF3-AS171Feb 20, 2020
DNAH11320Mar 19, 2024
DNAH5433Sep 8, 2024
DNAI159Feb 20, 2020
DNAI280Feb 20, 2020
DNAJB6104Feb 20, 2020
DNAJC193Oct 18, 2016
DNAJC5257Feb 20, 2020
DNAJC9-AS19Oct 18, 2016
DNAL129Oct 18, 2016
DNASE1L111Feb 20, 2020
DNM12Feb 10, 2023
DNM1L81Feb 20, 2020
DNM2190Feb 20, 2020
DNMT1107Feb 20, 2020
DNMT3A2Jun 29, 2023
DNMT3B114Feb 20, 2020
DOCK8204Feb 20, 2020
DOCK8-AS19Feb 20, 2020
DOHH2Mar 15, 2024
DOLK43Feb 20, 2020
DONSON2Jun 29, 2023
DPAGT150Nov 15, 2023
DPF21Dec 16, 2021
DPM125Sep 8, 2024
DPM232Feb 20, 2020
DPM32Feb 20, 2020
DPYD98Feb 20, 2020
DPYD-AS112Feb 20, 2020
DPYS47Sep 8, 2024
DRD323Feb 20, 2020
DSC2121Feb 20, 2020
DSCAS18Feb 20, 2020
DSG1-AS1100Feb 20, 2020
DSG2190Jun 29, 2023
DSG2-AS1114Feb 20, 2020
DSG4100Feb 20, 2020
DSP618Nov 6, 2023
DSP-AS157Feb 20, 2020
DST97Aug 9, 2021
DTNA5Oct 18, 2016
DTNBP17Feb 1, 2019
DUOX2212Sep 8, 2024
DUS4L16Feb 20, 2020
DUS4L-BCAP2916Feb 20, 2020
DUSP294Oct 18, 2016
DYM83Feb 20, 2020
DYM-AS110Oct 18, 2016
DYNC1H1374Mar 15, 2024
DYNC2H1420Feb 20, 2020
DYNC2LI156Feb 20, 2020
DYRK1A6Mar 19, 2024
DYSF432Sep 10, 2024
EARS286Feb 20, 2020
EBF31Jun 29, 2023
EBP1Dec 14, 2020
ECEL11Jun 29, 2023
EDAR155Feb 20, 2020
EDARADD112Feb 20, 2020
EDN379Feb 20, 2020
EDNRB80Feb 20, 2020
EDNRB-AS160Feb 20, 2020
EFCAB13-DT51Feb 20, 2020
EFEMP160Feb 20, 2020
EFEMP241Feb 20, 2020
EFHC174Feb 1, 2019
EFNB11Dec 13, 2022
EFTUD23Mar 19, 2024
EGF126Feb 20, 2020
EGFR1Oct 18, 2016
EGILA18Feb 20, 2020
EGLN1156Feb 20, 2020
EGR232Feb 20, 2020
EHMT15Oct 18, 2016
EIF1AD5Feb 20, 2020
EIF2AK11Mar 15, 2024
EIF2AK22Feb 10, 2023
EIF2AK373Feb 20, 2020
EIF2B148Feb 20, 2020
EIF2B247Feb 20, 2020
EIF2B343Feb 20, 2020
EIF2B446Feb 10, 2023
EIF2B547Nov 15, 2023
EIF2B5-DT7Oct 18, 2016
EIF3J4Feb 20, 2020
ELN213Sep 19, 2023
ELN-AS118Feb 20, 2020
ELOVL471Feb 20, 2020
ELP1155Feb 20, 2020
ELP21Nov 6, 2023
ELP4588Feb 20, 2020
EMC45Feb 20, 2020
EMD2Apr 12, 2024
EME21Sep 19, 2023
EML310Feb 20, 2020
ENAM101Feb 20, 2020
ENG113Mar 19, 2024
ENO331Feb 20, 2020
ENPP1384Feb 20, 2020
ENTPD739Feb 20, 2020
EP30031Mar 19, 2024
EPAS1150Feb 20, 2020
EPB4253Feb 20, 2020
EPCAM3Oct 18, 2016
EPHA2109Feb 20, 2020
EPHA2-AS12Feb 20, 2020
EPM2A2Feb 10, 2023
EPM2A-DT1Feb 10, 2023
EPOR54Feb 20, 2020
ERCC12Feb 1, 2019
ERCC2102Jun 11, 2024
ERCC359Feb 20, 2020
ERCC4162Feb 20, 2020
ERCC5114Feb 20, 2020
ERCC6572Feb 20, 2020
ERCC864Feb 20, 2020
ERCC8-AS15Feb 20, 2020
ESCO273Feb 20, 2020
ESR150Feb 20, 2020
ESR214Feb 20, 2020
ESRRB70Feb 20, 2020
ETFA30Sep 8, 2024
ETFDH44Feb 20, 2020
ETHE131Sep 8, 2024
EVC279Feb 20, 2020
EVC2152Feb 20, 2020
EXOSC342Mar 19, 2024
EXT157Feb 20, 2020
EXT293Feb 20, 2020
EYA1221Feb 20, 2020
EYA4197Feb 20, 2020
EYS229Jun 11, 2024
EZH27Mar 19, 2024
F1059Feb 20, 2020
F10-AS15Feb 20, 2020
F1184Sep 8, 2024
F11-AS142Feb 20, 2020
F12126Feb 20, 2020
F13A173Feb 20, 2020
F13B44Feb 20, 2020
F277Feb 10, 2023
F5905Feb 20, 2020
F7103Feb 20, 2020
F867Dec 14, 2020
F934Feb 20, 2020
FA2H67Feb 20, 2020
FAAH21Oct 7, 2021
FAH76Apr 12, 2024
FAM161A80Feb 20, 2020
FAM187A11Feb 20, 2020
FAM20A125Aug 9, 2021
FAM219B6Feb 20, 2020
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RMC14Feb 20, 2020
RMDN280Feb 20, 2020
RMRP2Aug 9, 2021
RNASE431Feb 20, 2020
RNASEH2A37Feb 20, 2020
RNASEH2B43Jun 29, 2023
RNASEH2B-AS113Jun 29, 2023
RNASEH2C69Feb 20, 2020
RNASET245Apr 1, 2020
RNF113A1Dec 13, 2022
RNF1796Feb 20, 2020
RNU4ATAC2Apr 1, 2020
RNU7-12Dec 20, 2021
ROBO2161Feb 20, 2020
ROBO3114Feb 20, 2020
ROGDI57Dec 14, 2020
ROM148Feb 20, 2020
ROR2239Feb 20, 2020
RP1114Apr 1, 2020
RP1L1423Feb 20, 2020
RP244Feb 20, 2020
RP915Feb 20, 2020
RPAP21Feb 20, 2020
RPE65137Dec 14, 2020
RPGRIP1172Feb 20, 2020
RPGRIP1L392Feb 20, 2020
RPIA32Feb 20, 2020
RPL1113Feb 20, 2020
RPL35A10Feb 20, 2020
RPL36A-HNRNPH221Sep 8, 2024
RPL3L1Mar 15, 2024
RPL533Feb 20, 2020
RPL612Feb 20, 2020
RPS1025Feb 20, 2020
RPS10-NUDT324Feb 20, 2020
RPS1928Feb 20, 2020
RPS2431Feb 20, 2020
RPS2619Feb 20, 2020
RPS6KA31Apr 12, 2024
RPS717Feb 20, 2020
RRAS21Feb 10, 2023
RRH3Feb 20, 2020
RRM2B175Mar 19, 2024
RSPH4A57Feb 20, 2020
RSPH920Feb 20, 2020
RTEL11Feb 10, 2023
RTEL1-TNFRSF6B1Feb 10, 2023
RTN220Feb 20, 2020
RTTN1Oct 18, 2016
RUNX1145Feb 20, 2020
RUNX1-AS13Feb 20, 2020
RUNX2100Feb 20, 2020
RUSF125Feb 20, 2020
RYR11688Jun 18, 2024
RYR2648Feb 20, 2020
S100PBP25Feb 20, 2020
SACS286Nov 6, 2023
SAG98Feb 20, 2020
SALL112Mar 19, 2024
SALL41Oct 18, 2016
SAMHD198Jun 29, 2023
SARM1104Feb 20, 2020
SARS259Feb 20, 2020
SATB24Mar 19, 2024
SBDS3Dec 20, 2021
SBF2139Feb 20, 2020
SBF2-AS159Feb 20, 2020
SC5D128Feb 20, 2020
SCAMP51Nov 6, 2023
SCN1A274Nov 6, 2023
SCN1A-AS1739Dec 14, 2020
SCN1B83Aug 9, 2021
SCN2A165Dec 14, 2020
SCN3A4Dec 20, 2021
SCN3B8Oct 18, 2016
SCN4A1025Feb 10, 2023
SCN4B88Oct 18, 2016
SCN5A1420Sep 19, 2023
SCN8A13Aug 9, 2021
SCN9A840Dec 14, 2020
SCNN1A176Feb 20, 2020
SCNN1B190Dec 14, 2020
SCNN1G136Feb 20, 2020
SCO1125Feb 20, 2020
SCO2121Feb 20, 2020
SDCCAG8103Feb 20, 2020
SDHA217Dec 14, 2022
SDHAF116Feb 20, 2020
SDHAF230Feb 20, 2020
SDHB61Feb 20, 2020
SDHC93Feb 20, 2020
SDHD35Feb 20, 2020
SEC23B70Feb 20, 2020
SEC63179Feb 20, 2020
SECISBP21Sep 19, 2023
SELENON111Feb 20, 2020
SEMA4A156Feb 20, 2020
SEMA6B2Feb 10, 2023
SEPSECS82Feb 20, 2020
SEPTIN9130Feb 20, 2020
SERPINA199Feb 20, 2020
SERPINC124Feb 20, 2020
SERPINE173Feb 20, 2020
SERPINF146Feb 20, 2020
SERPING141Feb 20, 2020
SERPINH163Feb 20, 2020
SERPINI138Feb 20, 2020
SETBP117Jun 29, 2023
SETD1A2Mar 19, 2024
SETD1B2Apr 12, 2024
SETD51Aug 9, 2021
SETX398Apr 1, 2020
SF3B41Oct 18, 2016
SFTA365Dec 13, 2022
SFTPB66Feb 20, 2020
SFTPC122Feb 20, 2020
SGCA44Jun 29, 2023
SGCB140Feb 20, 2020
SGCD364Feb 20, 2020
SGCE26Feb 10, 2023
SGCG87Feb 20, 2020
SGSH95Nov 6, 2023
SH2D1A31Feb 20, 2020
SH3BP2183Feb 20, 2020
SH3PXD2B200Feb 20, 2020
SH3TC21195Feb 20, 2020
SHANK252Feb 10, 2023
SHANK34Mar 19, 2024
SHH2Mar 19, 2024
SHLD27Feb 20, 2020
SHOC260Feb 20, 2020
SI154Feb 20, 2020
SIL148Feb 20, 2020
SIM172Feb 20, 2020
SIM1-AS114Feb 20, 2020
SIN3A1Dec 16, 2021
SIX1104Feb 20, 2020
SIX32Feb 10, 2023
SIX632Feb 20, 2020
SKIC291Feb 20, 2020
SKIC32Feb 10, 2023
SLA12Feb 20, 2020
SLC11A287Feb 20, 2020
SLC12A196Feb 20, 2020
SLC12A3190Dec 20, 2021
SLC12A5-AS116Feb 20, 2020
SLC12A6176Jun 1, 2022
SLC16A179Feb 20, 2020
SLC16A22Mar 19, 2024
SLC17A5117Feb 20, 2020
SLC17A888Feb 20, 2020
SLC19A177Feb 20, 2020
SLC19A2106Feb 20, 2020
SLC19A3115Feb 20, 2020
SLC1A1116Feb 20, 2020
SLC1A386Feb 20, 2020
SLC20A284Feb 20, 2020
SLC22A1284Feb 20, 2020
SLC22A589Dec 14, 2020
SLC24A1107Feb 20, 2020
SLC25A123Oct 18, 2016
SLC25A13112Feb 20, 2020
SLC25A15101Feb 20, 2020
SLC25A1931Feb 20, 2020
SLC25A2037Feb 20, 2020
SLC25A214Feb 20, 2020
SLC25A22100Feb 20, 2020
SLC25A333Feb 20, 2020
SLC25A3889Apr 12, 2024
SLC25A477Feb 20, 2020
SLC26A123Jun 29, 2023
SLC26A112Feb 20, 2020
SLC26A2765Feb 20, 2020
SLC26A365Feb 20, 2020
SLC26A4250Feb 20, 2020
SLC26A4-AS120Feb 20, 2020
SLC26A51Oct 18, 2016
SLC26A5-AS156Feb 20, 2020
SLC29A367Feb 20, 2020
SLC2A1193Mar 19, 2024
SLC2A1-DT8Oct 18, 2016
SLC2A10119Feb 20, 2020
SLC2A274Feb 20, 2020
SLC2A965Feb 20, 2020
SLC2A9-AS15Feb 20, 2020
SLC30A1044Feb 20, 2020
SLC33A15Dec 20, 2021
SLC34A1179Feb 20, 2020
SLC35A121Feb 20, 2020
SLC35C176Feb 20, 2020
SLC35D2-HSD17B328Feb 20, 2020
SLC37A448Feb 20, 2020
SLC39A483Feb 20, 2020
SLC3A187Feb 20, 2020
SLC40A154Feb 20, 2020
SLC45A264Mar 19, 2024
SLC46A1129Feb 20, 2020
SLC4A1391Feb 20, 2020
SLC4A1197Feb 20, 2020
SLC4A4143Feb 20, 2020
SLC4A81Oct 7, 2021
SLC5A1113Feb 20, 2020
SLC5A262Feb 20, 2020
SLC5A596Feb 20, 2020
SLC5A64Nov 15, 2023
SLC6A13Nov 15, 2023
SLC6A1-AS12Feb 10, 2023
SLC6A172Mar 19, 2024
SLC6A29Oct 18, 2016
SLC6A20160Feb 20, 2020
SLC6A4113Feb 20, 2020
SLC6A570Feb 20, 2020
SLC6A82Sep 19, 2023
SLC7A761Feb 20, 2020
SLC7A963Feb 20, 2020
SLCO1B184Feb 20, 2020
SLCO1B398Feb 20, 2020
SLCO1B3-SLCO1B791Feb 20, 2020
SLITRK1100Feb 20, 2020
SLURP116Feb 20, 2020
SLX4238Feb 20, 2020
SMAD22Dec 13, 2022
SMAD3279Feb 20, 2020
SMAD4634Feb 10, 2023
SMAD929Oct 18, 2016
SMARCA2125Nov 15, 2023
SMARCA499Mar 19, 2024
SMARCAL158Feb 20, 2020
SMARCB175Feb 20, 2020
SMARCC22Dec 16, 2021
SMC1A100Aug 9, 2021
SMC369Apr 12, 2024
SMC46Oct 18, 2016
SMCHD11Dec 14, 2020
SMIM1917Feb 20, 2020
SMIM276Feb 20, 2020
SMIM3525Feb 20, 2020
SMN11Jul 16, 2020
SMPD171Sep 19, 2023
SMPX8Feb 20, 2020
SNAI232Feb 20, 2020
SNAP29147Feb 20, 2020
SNAPC58Oct 18, 2016
SNCA97Feb 20, 2020
SNCA-AS111Feb 20, 2020
SNCAIP72Feb 20, 2020
SNHG1427Oct 18, 2016
SNHG22190Feb 20, 2020
SNHG3160Feb 20, 2020
SNHG46Feb 20, 2020
SNIP11Mar 15, 2024
SNORA661Oct 18, 2016
SNORD1185Nov 15, 2023
SNRNP200100Feb 20, 2020
SNRPN27Oct 18, 2016
SNTA193Feb 20, 2020
SNURF17Oct 18, 2016
SNX143Jun 29, 2023
SNX1716Feb 20, 2020
SNX2217Feb 20, 2020
SOD124Dec 14, 2020
SOD1-DT13Feb 20, 2020
SON1Apr 1, 2020
SOS1303Feb 10, 2023
SOS24Sep 19, 2023
SOST42Feb 20, 2020
SOX1080Feb 20, 2020
SOX151Feb 20, 2020
SOX21Mar 19, 2024
SOX2-OT1Mar 19, 2024
SOX41Apr 1, 2020
SOX51Jun 18, 2024
SOX63Mar 19, 2024
SOX912Jul 16, 2020
SP11066Feb 20, 2020
SP14031Feb 20, 2020
SP72Oct 18, 2016
SPAG87Feb 20, 2020
SPART85Feb 20, 2020
SPART-AS13Oct 18, 2016
SPAST109Jun 1, 2022
SPATA1652Feb 20, 2020
SPATA22124Apr 25, 2024
SPATA251Oct 18, 2016
SPATA6L108Feb 20, 2020
SPATA7101Feb 20, 2020
SPECC1L2Jun 1, 2022
SPECC1L-ADORA2A2Jun 1, 2022
SPEN1Mar 19, 2024
SPG11161Apr 1, 2020
SPG2131Feb 20, 2020
SPG790Feb 20, 2020
SPINK124Feb 20, 2020
SPINK5104Dec 14, 2020
SPINT22Mar 19, 2024
SPR32Feb 20, 2020
SPRED1135Feb 20, 2020
SPTA1813Aug 9, 2021
SPTAN14Jun 1, 2022
SPTB257Aug 9, 2021
SPTBN11Mar 19, 2024
SPTBN2125Sep 19, 2023
SPTBN42Apr 1, 2020
SPTLC145Feb 20, 2020
SPTLC2168Feb 20, 2020
SQSTM190Aug 9, 2021
SRCAP7Jun 29, 2023
SRD5A11Oct 18, 2016
SRD5A244Feb 20, 2020
SRD5A390Feb 10, 2023
SRD5A3-AS176Feb 20, 2020
SRP7271Feb 20, 2020
SSUH212Feb 20, 2020
ST3GAL559Mar 19, 2024
STAG21Mar 19, 2024
STAR61Feb 20, 2020
STAT195Dec 14, 2020
STAT376Feb 20, 2020
STAT5B2Dec 16, 2021
STEEP11Mar 19, 2024
STIL81Feb 20, 2020
STK11121Feb 20, 2020
STON1-GTF2A1L158Feb 20, 2020
STRA681Feb 20, 2020
STX11132Feb 20, 2020
STX16126Feb 20, 2020
STX16-NPEPL1126Feb 20, 2020
STXBP14Dec 16, 2021
STXBP257Feb 20, 2020
SUCLA258Feb 20, 2020
SUCLG168Feb 20, 2020
SUFU94Dec 14, 2020
SUMF185Feb 20, 2020
SUMO115Feb 20, 2020
SUOX49Dec 14, 2020
SUPT3H6Feb 20, 2020
SURF133Mar 19, 2024
SYCE29Feb 20, 2020
SYCP317Feb 20, 2020
SYN3119Feb 20, 2020
SYNDIG1L3Feb 20, 2020
SYNE11142Mar 19, 2024
SYNE1-AS12Feb 20, 2020
SYNE2512Feb 20, 2020
SYP1Mar 19, 2024
SYP-AS11Mar 19, 2024
SYT11Dec 14, 2020
SZT22Mar 19, 2024
TAB22Dec 13, 2022
TACO120Feb 20, 2020
TACR340Feb 20, 2020
TACR3-AS122Feb 20, 2020
TACSTD246Feb 20, 2020
TAF15Nov 15, 2023
TAF1C5Feb 20, 2020
TAFAZZIN74Feb 20, 2020
TALDO137Feb 20, 2020
TANC24Mar 19, 2024
TAOK11Jul 16, 2020
TARDBP120Feb 20, 2020
TARID135Feb 20, 2020
TAT56Feb 20, 2020
TAT-AS143Feb 20, 2020
TAX1BP320Feb 20, 2020
TBC1D231Oct 7, 2021
TBC1D24191Feb 20, 2020
TBC1D322Mar 15, 2024
TBCD4Feb 10, 2023
TBCE59Feb 20, 2020
TBCEL-TECTA303Feb 20, 2020
TBL1XR12Nov 6, 2023
TBL1XR1-AS11Nov 6, 2023
TBX1973Feb 20, 2020
TBX21Oct 7, 2021
TBX2231Feb 20, 2020
TBX3117Feb 20, 2020
TBX3-AS145Feb 20, 2020
TBX467Feb 20, 2020
TBX5102Dec 14, 2020
TBX5-AS19Feb 20, 2020
TCAP38Feb 20, 2020
TCF201Dec 13, 2022
TCF4172Aug 9, 2021
TCF4-AS13Feb 20, 2020
TCFL52Oct 18, 2016
TCIRG1103Feb 20, 2020
TCN282Feb 20, 2020
TCOF14Oct 18, 2016
TCTN136Feb 20, 2020
TCTN2171Feb 20, 2020
TDP189Feb 20, 2020
TDRD772Feb 20, 2020
TECTA303Feb 20, 2020
TEK98Feb 20, 2020
TEN13Oct 18, 2016
TEN1-CDK33Oct 18, 2016
TERT214Feb 20, 2020
TET38Mar 19, 2024
TF59Feb 20, 2020
TFAP2A1Jul 16, 2020
TFAP2B21Sep 19, 2023
TFPT4Oct 18, 2016
TFR284Feb 20, 2020
TG263Feb 20, 2020
TGFB2129Feb 20, 2020
TGFB2-AS17Feb 20, 2020
TGFB2-OT132Feb 20, 2020
TGFB310Dec 14, 2020
TGFBI81Feb 20, 2020
TGFBR1366Feb 20, 2020
TGFBR2294Feb 20, 2020
TGIF121Feb 20, 2020
TGM179Feb 20, 2020
TGM560Feb 20, 2020
TGM680Feb 20, 2020
TH106Feb 20, 2020
THAP146Feb 20, 2020
THBD80Feb 20, 2020
THOC21May 28, 2024
THPO33Feb 20, 2020
THRB179Feb 20, 2020
THRB-AS16Feb 20, 2020
TICRR1Oct 18, 2016
TIGD183Feb 20, 2020
TIMMDC11Apr 1, 2020
TIMP3119Feb 20, 2020
TINF280Feb 20, 2020
TIPIN2Oct 18, 2016
TJP26Oct 18, 2016
TK298Jul 16, 2020
TLDC238Feb 20, 2020
TLK24Nov 15, 2023
TM2D21Feb 20, 2020
TMC1119Dec 16, 2021
TMCO11Dec 14, 2020
TMCO613Feb 20, 2020
TMEM1075Nov 15, 2023
TMEM120A3Feb 20, 2020
TMEM126A21Feb 20, 2020
TMEM127107Feb 20, 2020
TMEM13838Feb 20, 2020
TMEM16525Feb 20, 2020
TMEM2139Feb 20, 2020
TMEM21676Feb 20, 2020
TMEM237109Feb 20, 2020
TMEM27251Feb 20, 2020
TMEM4366Feb 20, 2020
TMEM67196Feb 20, 2020
TMEM7065Feb 20, 2020
TMIE39Feb 20, 2020
TMPO1Oct 18, 2016
TMPO-AS11Oct 18, 2016
TMPPE17Feb 20, 2020
TMPRSS393Feb 20, 2020
TMPRSS699Feb 20, 2020
TNFRSF11A202Feb 20, 2020
TNFRSF11B56Mar 19, 2024
TNFRSF13B22Oct 18, 2016
TNFRSF13C26Feb 20, 2020
TNFRSF1A62Mar 19, 2024
TNFRSF255Feb 20, 2020
TNFSF1160Feb 20, 2020
TNNC122Feb 20, 2020
TNNI230Feb 20, 2020
TNNI3238Nov 6, 2023
TNNT145Feb 20, 2020
TNNT2116Feb 20, 2020
TNNT356Feb 20, 2020
TNRC6B1Dec 20, 2021
TNS22Oct 7, 2021
TNS2-AS11Oct 7, 2021
TNXB4Dec 14, 2020
TOE15Feb 20, 2020
TOMT37Feb 20, 2020
TOP2B1Dec 16, 2021
TOPORS77Feb 20, 2020
TOR1A50Mar 19, 2024
TP5380Jun 29, 2023
TP63307Dec 14, 2020
TPH242Feb 20, 2020
TPI141Feb 20, 2020
TPM166Feb 20, 2020
TPM257Nov 6, 2023
TPM3286Feb 20, 2020
TPMT6Oct 18, 2016
TPO112Feb 20, 2020
TPP183Mar 19, 2024
TPRX23Feb 20, 2020
TRAF72Dec 13, 2022
TRAPPC262Feb 20, 2020
TRAPPC2L10Feb 20, 2020
TRAPPC6B1Dec 14, 2020
TRAPPC982Feb 20, 2020
TRB1Oct 18, 2016
TRDN6Oct 18, 2016
TREM223Feb 20, 2020
TREX166Feb 20, 2020
TRI-AAT4-111Feb 20, 2020
TRIM32133Feb 20, 2020
TRIM3788Feb 20, 2020
TRIM59-IFT8097Feb 20, 2020
TRIM81Nov 6, 2023
TRIO6Dec 20, 2021
TRIP11177Feb 20, 2020
TRMT10A1Feb 10, 2023
TRMT10B16Feb 20, 2020
TRMU73Feb 20, 2020
TRPC695Feb 20, 2020
TRPM1144Feb 20, 2020
TRPM4117Feb 20, 2020
TRPM6147Feb 20, 2020
TRPS122Dec 16, 2021
TRPV3210Feb 20, 2020
TRPV4640Dec 20, 2021
TRRAP3Dec 20, 2021
TRS-AGA2-69Feb 20, 2020
TRT-AGT1-27Feb 20, 2020
TSC1534Mar 19, 2024
TSC2246Nov 6, 2023
TSEN278Feb 20, 2020
TSEN3462Feb 20, 2020
TSEN5466Mar 19, 2024
TSFM45Feb 20, 2020
TSHB6Feb 20, 2020
TSHR184Feb 20, 2020
TSHZ118Mar 19, 2024
TSPAN160Feb 20, 2020
TSPAN1239Feb 20, 2020
TSPAN3126Feb 20, 2020
TTBK282Feb 20, 2020
TTC1462Feb 20, 2020
TTC1997Jun 29, 2023
TTC21B262Feb 20, 2020
TTC21B-AS112Feb 20, 2020
TTC36-AS11Mar 19, 2024
TTC7A2Sep 19, 2023
TTC883Feb 20, 2020
TTN9150Apr 12, 2024
TTN-AS15338Apr 12, 2024
TTPA59Feb 20, 2020
TTR29Jun 29, 2023
TUBB1Dec 14, 2020
TUBB11Dec 16, 2021
TUBB2A2Mar 19, 2024
TUBB2B3Mar 19, 2024
TUBB32Dec 14, 2020
TUBB4A83Mar 19, 2024
TUBB612Feb 20, 2020
TUBGCP62Nov 6, 2023
TUFM57Feb 20, 2020
TULP188Feb 20, 2020
TUSC3119Feb 20, 2020
TWIST11Jun 29, 2023
TWNK306Nov 6, 2023
TYK2125Feb 20, 2020
TYMP141Feb 20, 2020
TYR40Mar 19, 2024
TYROBP19Feb 20, 2020
TYRP177Feb 20, 2020
UBA135Feb 20, 2020
UBE3B2Mar 19, 2024
UBIAD186Feb 20, 2020
UBQLN235Feb 20, 2020
UBR12Dec 20, 2021
UBTF1Aug 9, 2021
UCHL133Feb 20, 2020
UCK12Feb 20, 2020
UGT1A128Feb 20, 2020
UGT1A1128Feb 20, 2020
UGT1A10128Feb 20, 2020
UGT1A3128Feb 20, 2020
UGT1A4128Feb 20, 2020
UGT1A5128Feb 20, 2020
UGT1A6128Feb 20, 2020
UGT1A7128Feb 20, 2020
UGT1A8128Feb 20, 2020
UGT1A9128Feb 20, 2020
UMOD52Feb 20, 2020
UMPS183Feb 20, 2020
UNC11938Feb 20, 2020
UNC13D135Feb 20, 2020
UNC803Nov 6, 2023
UNG58Feb 20, 2020
UNKL5Feb 20, 2020
UPB161Feb 20, 2020
UPK3A38Feb 20, 2020
UQCRQ48Feb 20, 2020
URB113Feb 20, 2020
UROD30Feb 20, 2020
UROS31Feb 20, 2020
USH1C83Feb 20, 2020
USH1G74Feb 20, 2020
USH2A289Mar 19, 2024
USH2A-AS157Feb 20, 2020
USH2A-AS21Oct 18, 2016
USP73Oct 7, 2021
USP9X4Nov 15, 2023
UTP14C27Feb 20, 2020
UTP438Feb 20, 2020
VANGL1435Feb 20, 2020
VAPB350Feb 20, 2020
VARS12Aug 9, 2021
VCAN609Feb 20, 2020
VCAN-AS1297Feb 20, 2020
VCF15Feb 20, 2020
VCL109Feb 20, 2020
VCP136Apr 1, 2020
VDR137Feb 20, 2020
VHL192Feb 20, 2020
VKORC126Feb 20, 2020
VLDLR155Feb 20, 2020
VLDLR-AS140Feb 20, 2020
VPS13A225Feb 20, 2020
VPS13A-AS19Feb 20, 2020
VPS13B292Mar 19, 2024
VPS13D4Dec 16, 2021
VPS33B59Feb 20, 2020
VPS3562Feb 20, 2020
VRK126Feb 20, 2020
VRK222Jun 11, 2024
VSX169Feb 20, 2020
VSX2163Feb 20, 2020
VWF141Jun 29, 2023
WAC1Dec 14, 2020
WASHC577Feb 20, 2020
WASHC5-AS14Feb 20, 2020
WBP2NL38Feb 20, 2020
WDPCP72Feb 20, 2020
WDR111Mar 19, 2024
WDR19185Feb 20, 2020
WDR262Mar 19, 2024
WDR35342Feb 20, 2020
WDR35-DT33Feb 20, 2020
WDR3613Oct 18, 2016
WDR4142Feb 20, 2020
WDR453Mar 19, 2024
WDR62130Mar 19, 2024
WDR72204Feb 20, 2020
WFS1422Nov 15, 2023
WHRN257Feb 20, 2020
WNK1245Feb 20, 2020
WNK498Feb 20, 2020
WNT10A212Feb 10, 2023
WNT5A17Dec 14, 2020
WRAP5360Feb 20, 2020
WRN142Aug 9, 2021
WT1368Feb 20, 2020
WWOX4Feb 10, 2023
XDH181Feb 20, 2020
XIAP113Feb 20, 2020
XPA33Sep 19, 2023
XPC149Apr 12, 2024
XPNPEP3165Feb 20, 2020
XPR11Aug 9, 2021
YARS166Feb 10, 2023
YARS2131Feb 20, 2020
YME1L13Oct 18, 2016
YWHAG2Nov 6, 2023
YWHAZ1Jun 29, 2023
ZAP7053Feb 20, 2020
ZBTB182Dec 16, 2021
ZC4H22Dec 16, 2021
ZDHHC2456Jun 29, 2023
ZEB222Mar 19, 2024
ZFP5728Feb 20, 2020
ZFYVE26231Feb 20, 2020
ZFYVE2773Feb 20, 2020
ZIC368Feb 20, 2020
ZMIZ11Feb 10, 2023
ZMPSTE24101Feb 20, 2020
ZNF27661Feb 20, 2020
ZNF412Oct 18, 2016
ZNF4621Mar 19, 2024
ZNF469252Feb 20, 2020
ZNF51373Feb 20, 2020
ZNF6091Oct 7, 2021
ZNF6742Oct 18, 2016
ZNF71149Feb 20, 2020
ZNF814Oct 18, 2016
ZNF8271Oct 7, 2021
ZRANB346Feb 20, 2020
ZSWIM78Oct 18, 2016

Condition

NameSubmissionsLast Updated
11p partial monosomy syndrome119Feb 20, 2020
2-aminoadipic 2-oxoadipic aciduria2Dec 16, 2021
3 beta-Hydroxysteroid dehydrogenase deficiency33Feb 20, 2020
3-M syndrome8Oct 18, 2016
3-Methylglutaconic aciduria type 221Feb 20, 2020
3-Methylglutaconic aciduria type 3216Feb 20, 2020
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency44Feb 20, 2020
3-hydroxy-3-methylglutaryl-CoA synthase deficiency46Feb 20, 2020
3-methylcrotonyl-CoA carboxylase 1 deficiency39Feb 20, 2020
3-methylcrotonyl-CoA carboxylase 2 deficiency75Jul 29, 2024
3-methylglutaconic aciduria type 126Feb 20, 2020
3-methylglutaconic aciduria type 53Oct 18, 2016
3M syndrome 1126Feb 20, 2020
3M syndrome 2204Feb 20, 2020
46,XY DSD/46,XY CGD1Oct 18, 2016
46,XY sex reversal 729Feb 20, 2020
4p partial monosomy syndrome6Oct 18, 2016
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency16Feb 20, 2020
ABCA1-related disorder3Feb 1, 2019
ABCA1-related dyslipidemia1Nov 6, 2023
ABCA4-related disorder209Apr 25, 2024
ABCB4-Related Intrahepatic Cholestasis1Mar 19, 2024
ABCC9-related disorder2Feb 20, 2020
ABL1-related congenital heart defects and skeletal malformations syndrome1Dec 13, 2022
ACTA1-related myopathies1Dec 14, 2020
ACTA2-related disorder1Feb 1, 2019
ACTB-related disorder2Dec 14, 2020
ADAR-related disorder1Feb 1, 2019
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3Dec 20, 2021
AGK-related disorder1Feb 1, 2019
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Aug 9, 2021
AIPL1-related disorder3Feb 1, 2019
ALDH18A1 deficiency3Dec 20, 2021
ALDH18A1-related de Barsy syndrome65Feb 20, 2020
ALG1-congenital disorder of glycosylation2Dec 16, 2021
ALG11-congenital disorder of glycosylation42Feb 20, 2020
ALG12-congenital disorder of glycosylation71Feb 20, 2020
ALG3-congenital disorder of glycosylation37Feb 20, 2020
ALG6-congenital disorder of glycosylation 1C61Feb 20, 2020
ALG8 congenital disorder of glycosylation34Feb 20, 2020
ALG9 congenital disorder of glycosylation63Feb 20, 2020
ALS2-related disorder114Feb 20, 2020
ANKH-related disorder1Feb 1, 2019
ANO5-Related Muscle Diseases135Feb 20, 2020
ANO5-related disorder7Feb 1, 2019
APC-Associated Polyposis Disorders194Feb 20, 2020
APOB-related disorder4Feb 1, 2019
ARID1B-related disorder2Dec 20, 2021
ASAH1-related disorders1Dec 14, 2020
ASH1L-related neurodevelopmental disorders4Dec 20, 2021
ATM-related cancer predisposition1Dec 13, 2022
ATM-related cancer predisposition syndrome1Jun 29, 2023
ATM-related disorder3Aug 9, 2021
ATP13A2-related disorder2Jul 16, 2020
ATP1A2-associated neurological disorder1Nov 15, 2023
ATP1A3-associated neurological disorder3Mar 19, 2024
Abetalipoproteinaemia100Feb 20, 2020
Achondrogenesis15Oct 18, 2016
Achondrogenesis, type IA171Feb 20, 2020
Achondrogenesis, type IB143Feb 20, 2020
Achondroplasia1Dec 20, 2021
Achromatopsia88Feb 20, 2020
Achromatopsia 288Dec 14, 2020
Achromatopsia 3103Feb 20, 2020
Achromatopsia 426Feb 20, 2020
Acral peeling skin syndrome59Feb 20, 2020
Acrocallosal syndrome134Feb 20, 2020
Acrocephalosyndactyly type I6Oct 18, 2016
Acrodysostosis43Oct 18, 2016
Acrodysostosis 1 with or without hormone resistance66Aug 9, 2021
Acrodysostosis 2 with or without hormone resistance132Dec 14, 2020
Acroerythrokeratoderma16Feb 20, 2020
Acromesomelic dysplasia2Oct 18, 2016
Acromesomelic dysplasia 1, Maroteaux type44Feb 20, 2020
Acromesomelic dysplasia 2B40Feb 20, 2020
Acromesomelic dysplasia 2C, Hunter-Thompson type39Feb 20, 2020
Acromicric dysplasia237Feb 20, 2020
Actin accumulation myopathy25Feb 20, 2020
Activated PI3K-delta syndrome1Dec 16, 2021
Acute Recurrent Myoglobinuria8Oct 18, 2016
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins73Feb 20, 2020
Acute intermittent porphyria44Feb 20, 2020
Acyl-CoA dehydrogenase 9 deficiency67Apr 25, 2024
Acyl-CoA oxidase deficiency178Feb 20, 2020
Adams-Oliver syndrome5Oct 18, 2016
Adenine phosphoribosyltransferase deficiency31Feb 20, 2020
Adenosine kinase deficiency30Feb 20, 2020
Adenylosuccinate lyase deficiency28Feb 20, 2020
Adrenoleukodystrophy73Nov 6, 2023
Adult i blood group with or without congenital cataract7Oct 18, 2016
Adult polyglucosan body disease67Feb 20, 2020
Adult-onset autosomal dominant demyelinating leukodystrophy43Feb 20, 2020
Adult-onset foveomacular vitelliform dystrophy76Feb 20, 2020
Adult-onset proximal spinal muscular atrophy, autosomal dominant154Feb 20, 2020
Age related macular degeneration 1389Feb 20, 2020
Age related macular degeneration 1454Feb 20, 2020
Age related macular degeneration 482Feb 20, 2020
Age related macular degeneration 5151Feb 20, 2020
Age related macular degeneration 667Feb 20, 2020
Age related macular degeneration 821Feb 20, 2020
Age related macular degeneration 9121Feb 20, 2020
Age-related cortical cataract4Oct 18, 2016
Agenesis of the corpus callosum with peripheral neuropathy169Jun 1, 2022
Aicardi Goutieres syndrome21Oct 18, 2016
Aicardi-Goutieres syndrome 119Feb 20, 2020
Aicardi-Goutieres syndrome 241Jun 29, 2023
Aicardi-Goutieres syndrome 365Feb 20, 2020
Aicardi-Goutieres syndrome 435Feb 20, 2020
Aicardi-Goutieres syndrome 550Jun 29, 2023
Aicardi-Goutieres syndrome 72Jun 1, 2022
Aicardi-Goutieres syndrome 92Dec 20, 2021
Alagille syndrome due to a JAG1 point mutation4Apr 12, 2024
Alagille syndrome due to a NOTCH2 point mutation1Dec 14, 2020
Alexander disease8Apr 12, 2024
Alkaptonuria58Feb 20, 2020
Allan-Herndon-Dudley syndrome2Mar 19, 2024
Alopecia universalis2Oct 18, 2016
Alopecia universalis congenita161Feb 20, 2020
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome1Dec 13, 2022
Alpha-1-antitrypsin deficiency99Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 161Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 262Feb 20, 2020
Alpha-actinopathy2Nov 15, 2023
Alpha-methylacyl-CoA racemase deficiency78Feb 20, 2020
Alport syndrome441Sep 8, 2024
Alstrom syndrome56Feb 20, 2020
Alternating hemiplegia of childhood11Oct 18, 2016
Alternating hemiplegia of childhood 1122Feb 20, 2020
Alternating hemiplegia of childhood 269Feb 20, 2020
Alveolar capillary dysplasia with pulmonary venous misalignment11Oct 18, 2016
Alzheimer disease72Feb 20, 2020
Alzheimer disease 3119Feb 20, 2020
Alzheimer disease 460Feb 20, 2020
Amelocerebrohypohidrotic syndrome57Dec 14, 2020
Amelogenesis Imperfecta, Dominant9Oct 18, 2016
Amelogenesis Imperfecta, Recessive81Oct 18, 2016
Amelogenesis imperfecta97Feb 20, 2020
Amelogenesis imperfecta hypomaturation type 2A256Sep 8, 2024
Amelogenesis imperfecta hypomaturation type 2A3128Feb 20, 2020
Amish lethal microcephaly31Feb 20, 2020
Amyloidosis10Oct 18, 2016
Amyloidosis, hereditary systemic 129Jun 29, 2023
Amyotrophic Lateral Sclerosis, Dominant76Oct 18, 2016
Amyotrophic Lateral Sclerosis, Recessive12Oct 18, 2016
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia20Oct 18, 2016
Amyotrophic lateral sclerosis type 123Dec 14, 2020
Amyotrophic lateral sclerosis type 1065Feb 20, 2020
Amyotrophic lateral sclerosis type 1157Feb 20, 2020
Amyotrophic lateral sclerosis type 1261Feb 20, 2020
Amyotrophic lateral sclerosis type 1522Feb 20, 2020
Amyotrophic lateral sclerosis type 2, juvenile105Feb 20, 2020
Amyotrophic lateral sclerosis type 2193Feb 20, 2020
Amyotrophic lateral sclerosis type 4192Feb 20, 2020
Amyotrophic lateral sclerosis type 6137Aug 9, 2021
Amyotrophic lateral sclerosis type 8154Feb 20, 2020
Amyotrophic lateral sclerosis type 934Feb 20, 2020
Amyotrophic neuralgia116Feb 20, 2020
Andersen Tawil syndrome122Feb 20, 2020
Androgen resistance syndrome1Dec 14, 2020
Aneurysm-osteoarthritis syndrome63Feb 20, 2020
Angiokeratoma corporis diffusum with arteriovenous fistulas90Feb 20, 2020
Aniridia 137Feb 20, 2020
Aniridia, Cerebellar Ataxia, And Intellectual Disability78Oct 18, 2016
Annular epidermolytic ichthyosis1Dec 14, 2020
Anophthalmia13Oct 18, 2016
Anophthalmia-microphthalmia syndrome149Feb 20, 2020
Anophthalmia/microphthalmia-esophageal atresia syndrome1Mar 19, 2024
Antenatal Bartter syndrome10Oct 18, 2016
Anterior segment dysgenesis 19Oct 18, 2016
Anterior segment dysgenesis 456Feb 20, 2020
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis3Oct 18, 2016
Aortic aneurysm, familial thoracic 4202Feb 20, 2020
Aortic aneurysm, familial thoracic 617Feb 20, 2020
Aortic aneurysm, familial thoracic 7178Aug 9, 2021
Aortic valve disease 11Aug 9, 2021
Aplastic anemia90Feb 20, 2020
Apolipoprotein A-II deficiency9Feb 20, 2020
Arginase deficiency20Feb 20, 2020
Arginine:glycine amidinotransferase deficiency37Feb 20, 2020
Argininosuccinate lyase deficiency46Dec 16, 2021
Aromatase deficiency90Feb 20, 2020
Arrhinia with choanal atresia and microphthalmia syndrome1Dec 14, 2020
Arrhythmogenic right ventricular cardiomyopathy190Oct 18, 2016
Arrhythmogenic right ventricular dysplasia 10135Jun 29, 2023
Arrhythmogenic right ventricular dysplasia 11102Feb 20, 2020
Arrhythmogenic right ventricular dysplasia 12106Feb 20, 2020
Arrhythmogenic right ventricular dysplasia 2280Feb 20, 2020
Arrhythmogenic right ventricular dysplasia 8170Dec 14, 2020
Arrhythmogenic right ventricular dysplasia 9122Feb 20, 2020
Arterial calcification, generalized, of infancy, 1192Feb 20, 2020
Arterial tortuosity syndrome119Feb 20, 2020
Arteriohepatic dysplasia12Oct 18, 2016
Arthrogryposis multiplex congenita41Oct 18, 2016
Arthrogryposis multiplex congenita distal29Oct 18, 2016
Arthrogryposis with renal dysfunction and cholestasis syndrome1Oct 18, 2016
Arthrogryposis, distal, type 1A24Feb 20, 2020
Arthrogryposis, distal, type 1B68Feb 20, 2020
Arthrogryposis, distal, with impaired proprioception and touch6Jun 29, 2023
Arthrogryposis, renal dysfunction, and cholestasis 158Feb 20, 2020
Arts syndrome25Feb 20, 2020
Aspartylglucosaminuria60Feb 20, 2020
Asphyxiating thoracic dystrophy 286Feb 20, 2020
Asphyxiating thoracic dystrophy 3239Feb 20, 2020
Asphyxiating thoracic dystrophy 4120Feb 20, 2020
Asphyxiating thoracic dystrophy 584Feb 20, 2020
Ataxia Neuropathy Spectrum Disorders6Oct 18, 2016
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia44Feb 20, 2020
Ataxia-telangiectasia syndrome266Jun 29, 2023
Ataxia-telangiectasia-like disorder 1133Feb 20, 2020
Atelosteogenesis9Oct 18, 2016
Atelosteogenesis type II143Feb 20, 2020
Atransferrinemia59Feb 20, 2020
Atrial fibrillation, familial, 1127Feb 20, 2020
Atrial fibrillation, familial, 398Feb 20, 2020
Atrial fibrillation, familial, 417Feb 20, 2020
Atrial fibrillation, familial, 749Feb 20, 2020
Atrial fibrillation, familial, 9100Feb 20, 2020
Atrial septal defect54Oct 18, 2016
Atrial septal defect 31Sep 19, 2023
Atrichia with papular lesions163Feb 20, 2020
Atypical Gaucher Disease41Oct 18, 2016
Atypical hemolytic-uremic syndrome31Oct 18, 2016
Atypical hemolytic-uremic syndrome with B factor anomaly51Feb 20, 2020
Atypical hemolytic-uremic syndrome with C3 anomaly121Jul 11, 2024
Atypical hemolytic-uremic syndrome with I factor anomaly57Feb 20, 2020
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly60Feb 20, 2020
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly78Feb 20, 2020
Aural atresia, congenital18Mar 19, 2024
Auriculocondylar syndrome7Jul 16, 2020
Auriculocondylar syndrome 11Dec 14, 2020
Auriculocondylar syndrome 2101Feb 20, 2020
Autism spectrum disorder80Dec 14, 2020
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2Dec 14, 2020
Autoimmune lymphoproliferative syndrome type 1107Aug 9, 2021
Autoimmune lymphoproliferative syndrome type 2A113Feb 20, 2020
Autoimmune lymphoproliferative syndrome type 2B57Feb 20, 2020
Autosomal dominant Parkinson disease 8169Dec 16, 2021
Autosomal dominant Robinow syndrome 119Dec 14, 2020
Autosomal dominant aplasia and myelodysplasia71Feb 20, 2020
Autosomal dominant auditory neuropathy 11Dec 14, 2020
Autosomal dominant centronuclear myopathy92Feb 20, 2020
Autosomal dominant cerebellar ataxia512Feb 20, 2020
Autosomal dominant distal renal tubular acidosis122Feb 20, 2020
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome171Feb 20, 2020
Autosomal dominant hypocalcemia 160Jun 29, 2023
Autosomal dominant hypophosphatemic rickets55Feb 20, 2020
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4Mar 19, 2024
Autosomal dominant keratitis125Feb 20, 2020
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)58Feb 20, 2020
Autosomal dominant nocturnal frontal lobe epilepsy 499Dec 14, 2020
Autosomal dominant nocturnal frontal lobe epilepsy 53Dec 16, 2021
Autosomal dominant nonsyndromic hearing loss 1111Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 1093Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 11252Apr 1, 2020
Autosomal dominant nonsyndromic hearing loss 12147Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 1523Apr 1, 2020
Autosomal dominant nonsyndromic hearing loss 17196Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 22168Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 2342Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 2577Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 3656Dec 16, 2021
Autosomal dominant nonsyndromic hearing loss 3A60Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 4A209Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 569Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 6199Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 943Feb 20, 2020
Autosomal dominant optic atrophy classic form109Mar 19, 2024
Autosomal dominant polycystic kidney disease6Sep 8, 2024
Autosomal dominant pseudohypoaldosteronism type 1297Jun 29, 2023
Autosomal dominant striatal neurodegeneration type 188Feb 20, 2020
Autosomal dominant vitreoretinochoroidopathy56Feb 20, 2020
Autosomal recessive Alport syndrome3Dec 13, 2022
Autosomal recessive DOPA responsive dystonia78Feb 20, 2020
Autosomal recessive Robinow syndrome117Feb 20, 2020
Autosomal recessive ataxia due to ubiquinone deficiency84Sep 8, 2024
Autosomal recessive ataxia, Beauce type552Jun 1, 2022
Autosomal recessive cerebellar ataxia123Feb 20, 2020
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome4Dec 16, 2021
Autosomal recessive congenital ichthyosis 177Feb 20, 2020
Autosomal recessive congenital ichthyosis 1061Feb 20, 2020
Autosomal recessive congenital ichthyosis 266Feb 20, 2020
Autosomal recessive congenital ichthyosis 373Feb 20, 2020
Autosomal recessive congenital ichthyosis 563Feb 20, 2020
Autosomal recessive congenital ichthyosis 670Feb 20, 2020
Autosomal recessive distal renal tubular acidosis88Feb 20, 2020
Autosomal recessive distal spinal muscular atrophy 1137Apr 12, 2024
Autosomal recessive early-onset Parkinson disease 685Feb 20, 2020
Autosomal recessive early-onset Parkinson disease 723Feb 20, 2020
Autosomal recessive juvenile Parkinson disease 2112Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2A99Jul 14, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2C11Oct 18, 2016
Autosomal recessive limb-girdle muscular dystrophy type 2D3Jun 29, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2G19Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2J1773Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2K92Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2N118Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2O42Feb 20, 2020
Autosomal recessive multiple pterygium syndrome102Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 12371Dec 16, 2021
Autosomal recessive nonsyndromic hearing loss 1A71Aug 9, 2021
Autosomal recessive nonsyndromic hearing loss 2251Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 21146Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 2481Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 2524Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 2954Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 3297Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 30135Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 31126Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 3568Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 37170Nov 6, 2023
Autosomal recessive nonsyndromic hearing loss 4256Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 4946Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 5936Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 636Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 6372Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 6768Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 757Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 77222Jul 29, 2024
Autosomal recessive nonsyndromic hearing loss 889Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 9212Feb 20, 2020
Autosomal recessive omodysplasia121Feb 20, 2020
Autosomal recessive optic atrophy, OPA7 type18Feb 20, 2020
Autosomal recessive osteopetrosis 192Feb 20, 2020
Autosomal recessive osteopetrosis 259Feb 20, 2020
Autosomal recessive osteopetrosis 592Feb 20, 2020
Autosomal recessive osteopetrosis 783Feb 20, 2020
Autosomal recessive polycystic kidney disease369Feb 20, 2020
Autosomal recessive proximal renal tubular acidosis143Feb 20, 2020
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency32Feb 20, 2020
Autosomal recessive spinocerebellar ataxia 1071Feb 20, 2020
Autosomal recessive spinocerebellar ataxia 1421Feb 20, 2020
Autosomal recessive spinocerebellar ataxia 203Jun 29, 2023
Axenfeld-Rieger syndrome2Oct 18, 2016
Axenfeld-Rieger syndrome type 161Feb 20, 2020
Axenfeld-Rieger syndrome type 31Mar 19, 2024
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1Dec 16, 2021
B9D1-related disorder1Feb 1, 2019
BAP1-related tumor predisposition syndrome73Apr 25, 2024
BBS2-related disorder1Feb 1, 2019
BCL11A-related intellectual disability1Aug 9, 2021
BCOR-related disorder2Aug 9, 2021
BCS1L-related disorder3Feb 1, 2019
BEST1-related disorder1Feb 1, 2019
BH4-Deficient Hyperphenylalaninemia15Oct 18, 2016
BMP4-Related Syndromic Microphthalmia10Oct 18, 2016
BPTF-related neurodevelopmental disorder1Dec 14, 2020
BRAF-related spectrum disorder1Dec 16, 2021
BRCA2-related disorder6Feb 1, 2019
BRIP1-related disorder6Apr 25, 2024
BRWD3-related X-linked syndromic intellectual disability1Dec 14, 2020
Baraitser-Winter syndrome 11Dec 20, 2021
Bardet-Biedl syndrome57Oct 18, 2016
Bardet-Biedl syndrome 172Apr 25, 2024
Bardet-Biedl syndrome 1072Feb 20, 2020
Bardet-Biedl syndrome 1164Feb 20, 2020
Bardet-Biedl syndrome 1261Apr 25, 2024
Bardet-Biedl syndrome 1357Feb 20, 2020
Bardet-Biedl syndrome 14130Feb 20, 2020
Bardet-Biedl syndrome 1563Feb 20, 2020
Bardet-Biedl syndrome 1646Feb 20, 2020
Bardet-Biedl syndrome 267Feb 20, 2020
Bardet-Biedl syndrome 322Feb 20, 2020
Bardet-Biedl syndrome 455Feb 20, 2020
Bardet-Biedl syndrome 656Feb 20, 2020
Bardet-Biedl syndrome 754Feb 20, 2020
Bardet-Biedl syndrome 842Feb 20, 2020
Bardet-Biedl syndrome 991Apr 1, 2020
Bartsocas-Papas syndrome 1117Feb 20, 2020
Bartter disease type 196Feb 20, 2020
Bartter disease type 239Sep 8, 2024
Bartter disease type 4A40Feb 20, 2020
Bartter syndrome1Oct 18, 2016
Basal ganglia calcification, idiopathic, 7, autosomal recessive2Jun 29, 2023
Basal laminar drusen83Feb 20, 2020
Batten-Turner congenital myopathy84Feb 20, 2020
Beaded hair79Feb 20, 2020
Beare-Stevenson cutis gyrata syndrome99Feb 20, 2020
Beck-Fahrner syndrome5Mar 19, 2024
Beckwith-Wiedemann syndrome1Mar 19, 2024
Behavior disorder113Feb 20, 2020
Benign Neonatal Epilepsy95Oct 18, 2016
Benign hereditary chorea35Feb 20, 2020
Benign neonatal seizures108Oct 18, 2016
Bernard Soulier syndrome29Feb 20, 2020
Beta-D-mannosidosis67Feb 20, 2020
Bietti crystalline corneoretinal dystrophy146Feb 20, 2020
Bifunctional peroxisomal enzyme deficiency61Feb 20, 2020
Bilateral frontoparietal polymicrogyria111Feb 20, 2020
Bilateral microtia-deafness-cleft palate syndrome39Feb 20, 2020
Biotin-responsive basal ganglia disease108Feb 20, 2020
Biotinidase deficiency27Apr 25, 2024
Birk-Barel Intellectual Disability Dysmorphism Syndrome1Oct 18, 2016
Birk-Barel syndrome3Dec 16, 2021
Birt-Hogg-Dube syndrome95Feb 20, 2020
Blau syndrome132Jul 16, 2020
Blood group, I system89Feb 20, 2020
Bloom syndrome75Apr 25, 2024
Bohring-Opitz syndrome8Mar 19, 2024
Bone Mineral Density Variation2Oct 18, 2016
Bone Paget disease22Oct 18, 2016
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 19, 2024
Bosley-Salih-Alorainy syndrome31Oct 18, 2016
Brachydactyly166Feb 20, 2020
Brachydactyly type A155Feb 20, 2020
Brachydactyly type B1117Feb 20, 2020
Brachyolmia2Oct 18, 2016
Brachyrachia (short spine dysplasia)104Feb 20, 2020
Brain malformations with or without urinary tract defects1Mar 19, 2024
Brain small vessel disease 1 with or without ocular anomalies228Dec 20, 2021
Brain-lung-thyroid syndrome36Dec 13, 2022
Branchiooculofacial syndrome1Jul 16, 2020
Branchiootic syndrome 197Feb 20, 2020
Branchiootic syndrome 342Feb 20, 2020
Branchiootorenal Spectrum Disorders24Oct 18, 2016
Breast and Ovarian Cancer Susceptibility7Oct 18, 2016
Breast neoplasm28Oct 18, 2016
Breast-ovarian cancer, familial, susceptibility to, 1134Nov 6, 2023
Breast-ovarian cancer, familial, susceptibility to, 2209Apr 12, 2024
Breast-ovarian cancer, familial, susceptibility to, 313Feb 20, 2020
Brittle cornea syndrome 1281Feb 20, 2020
Brittle cornea syndrome 213Feb 20, 2020
Brody myopathy68Feb 20, 2020
Bronchiectasis with or without elevated sweat chloride 170Feb 20, 2020
Bronchiectasis with or without elevated sweat chloride 276Feb 20, 2020
Brooke-Spiegler syndrome115Feb 20, 2020
Bruck syndrome 271Feb 20, 2020
Brugada syndrome89Oct 18, 2016
Brugada syndrome 1181Feb 20, 2020
Brugada syndrome 541Feb 20, 2020
Bryant-Li-Bhoj neurodevelopmental syndrome 12Mar 15, 2024
Budd-Chiari syndrome206Feb 20, 2020
C syndrome11Feb 1, 2019
C2-related disorder1Feb 1, 2019
C3 deficiency6Oct 18, 2016
C8orf37-related disorder2Apr 5, 2019
CACNA1A-related disorder6Dec 20, 2021
CACNA1B-related neurodevelopmental disorder1Aug 9, 2021
CACNA1D-related neurodevelopmental and endocrine disorders1Dec 14, 2020
CACNB4-related disorder1Feb 1, 2019
CAMK2G-related syndromic intellectual disability1Apr 1, 2020
CASK-related disorder1Dec 20, 2021
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia1Dec 14, 2020
CBL-related disorder230Mar 19, 2024
CC2D2A-related disorder37Feb 20, 2020
CDH23-related disorder99Feb 1, 2019
CEDNIK syndrome147Feb 20, 2020
CENPJ-related disorder1Feb 1, 2019
CEP152-related disorder7May 23, 2024
CEP290-related disorder4Feb 1, 2019
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II154Feb 20, 2020
CFH-related disorder1Feb 1, 2019
CFI-related disorder1Feb 20, 2020
CFTR-related disorder131Jul 16, 2020
CHARGE syndrome26Mar 19, 2024
CHD7 disorder1Dec 20, 2021
CHD7-related disorder1Dec 14, 2020
CHEK2-related cancer predisposition42Mar 19, 2024
CHIME syndrome24Feb 20, 2020
CHRNG-related disorder5Feb 1, 2019
CIC-related neurodevelopmental disorders2Dec 14, 2020
CLCN3-related neurodevelopmental disorders1Jun 1, 2022
CNGB3-related disorder2Feb 1, 2019
CNNM2-related neurodevelopmental disorder and hypomagnesemia1Dec 14, 2020
COFS syndrome37Oct 18, 2016
COG1 congenital disorder of glycosylation64Feb 20, 2020
COG5-congenital disorder of glycosylation116Feb 20, 2020
COG6-congenital disorder of glycosylation73Feb 20, 2020
COG7 congenital disorder of glycosylation57Feb 20, 2020
COG8-congenital disorder of glycosylation41Feb 20, 2020
COL11A1-related disorder2May 23, 2024
COL1A2-related disorder3Aug 9, 2021
COL2A1-related disorder5Dec 13, 2022
COL4A1-related disorder1Apr 12, 2024
COL4A2-related disorder1Jun 1, 2022
COL4A3-related disorder3Feb 1, 2019
COL6A3-related disorder1May 23, 2024
COL9A1-related disorder1Feb 1, 2019
COL9A2-related disorder1Feb 1, 2019
COMP-related disorder3Feb 20, 2020
CRB1-related disorder7Feb 1, 2019
CSNK2A1-related neurodevelopmental syndrome1Dec 14, 2020
CSNK2B-related intellectual disability with or without epilepsy1Aug 9, 2021
CSRP3-related disorder1Feb 1, 2019
CTCF-related syndromic intellectual disability2Dec 13, 2022
CTNNB1-related syndromic intellectual disability3Dec 20, 2021
CTSC-related disorder3Dec 14, 2020
CUL4B-related X-linked intellectual disability1Dec 16, 2021
CYFIP2-related neurodevelopmental disorders1Jul 16, 2020
CYP1B1-related disorder4Apr 5, 2019
CYP4V2-related disorder1Feb 1, 2019
Café-au-lait macules with pulmonary stenosis160Feb 20, 2020
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Mar 19, 2024
Camptomelic dysplasia12Jul 16, 2020
Candidiasis, familial, 618Feb 20, 2020
Capillary malformation-arteriovenous malformation 171Dec 16, 2021
Carcinoma of pancreas11Oct 18, 2016
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Jun 29, 2023
Cardiac arrhythmia, ankyrin-B-related243Feb 20, 2020
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Aug 9, 2021
Cardiac, facial, and digital anomalies with developmental delay1Dec 20, 2021
Cardio-facio-cutaneous syndrome27Oct 18, 2016
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 128Feb 20, 2020
Cardiofaciocutaneous syndrome 31Dec 16, 2021
Cardiofacioneurodevelopmental syndrome1Sep 19, 2023
Cardiomyopathy, dilated, 2D1Mar 15, 2024
Cardiomyopathy, familial restrictive, 128Feb 20, 2020
Cardiomyopathy, familial restrictive, 323Feb 20, 2020
Cardiomyopathy-hypotonia-lactic acidosis syndrome33Feb 20, 2020
Carney complex19Oct 18, 2016
Carney complex, type 165Feb 20, 2020
Carney-Stratakis syndrome30Feb 20, 2020
Carnitine acylcarnitine translocase deficiency37Feb 20, 2020
Carnitine palmitoyltransferase II deficiency61Feb 20, 2020
Carpenter syndrome10Oct 18, 2016
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders2Aug 9, 2021
Cataract77Feb 20, 2020
Cataract 1 multiple types33Feb 20, 2020
Cataract 12 multiple types37Feb 20, 2020
Cataract 14 multiple types102Feb 20, 2020
Cataract 15 multiple types39Feb 20, 2020
Cataract 16 multiple types14Feb 20, 2020
Cataract 17 multiple types28Feb 20, 2020
Cataract 18195Feb 20, 2020
Cataract 19 multiple types35Feb 20, 2020
Cataract 22 multiple types34Feb 20, 2020
Cataract 3671Feb 20, 2020
Cataract 3860Feb 20, 2020
Cataract 4 multiple types24Feb 20, 2020
Cataract 5 multiple types53Feb 20, 2020
Cataract 6 multiple types105Feb 20, 2020
Cataract 9 multiple types28Feb 20, 2020
Catecholaminergic polymorphic ventricular tachycardia85Oct 18, 2016
Catecholaminergic polymorphic ventricular tachycardia 1281Feb 20, 2020
Catecholaminergic polymorphic ventricular tachycardia 263Feb 20, 2020
Caudal regression sequence26Oct 18, 2016
Caveolinopathy53Dec 20, 2021
Cayman type cerebellar ataxia137Feb 20, 2020
Cenani-Lenz syndactyly syndrome162Feb 20, 2020
Central core myopathy420Dec 14, 2020
Centronuclear Myopathy, Dominant17Oct 18, 2016
Cerebellar ataxia16Oct 18, 2016
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 194Feb 20, 2020
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2Nov 15, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1186Apr 1, 2020
Cerebral cavernous malformation94Dec 16, 2021
Cerebral cavernous malformation 316Feb 20, 2020
Cerebral folate transport deficiency17Feb 20, 2020
Cerebral palsy spastic quadriplegic2Oct 18, 2016
Cerebrooculofacioskeletal syndrome 1152Feb 20, 2020
Cerebroretinal microangiopathy with calcifications and cysts 12Apr 5, 2019
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)145Feb 20, 2020
Channelopathy-associated congenital insensitivity to pain, autosomal recessive188Feb 20, 2020
Char syndrome21Sep 19, 2023
Charcot-Marie-Tooth disease2Nov 6, 2023
Charcot-Marie-Tooth disease X-linked dominant 118Jul 16, 2020
Charcot-Marie-Tooth disease axonal type 2C104Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2F27Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2L34Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2N80Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2O179Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2P82Feb 20, 2020
Charcot-Marie-Tooth disease dominant intermediate B92Feb 20, 2020
Charcot-Marie-Tooth disease dominant intermediate C59Aug 9, 2021
Charcot-Marie-Tooth disease dominant intermediate D30Feb 20, 2020
Charcot-Marie-Tooth disease dominant intermediate E1Dec 16, 2021
Charcot-Marie-Tooth disease recessive intermediate A83Feb 20, 2020
Charcot-Marie-Tooth disease type 1B30Feb 20, 2020
Charcot-Marie-Tooth disease type 1C61Feb 20, 2020
Charcot-Marie-Tooth disease type 1D28Feb 20, 2020
Charcot-Marie-Tooth disease type 1F43Feb 20, 2020
Charcot-Marie-Tooth disease type 2165Feb 20, 2020
Charcot-Marie-Tooth disease type 2A21Dec 14, 2020
Charcot-Marie-Tooth disease type 2B56Feb 20, 2020
Charcot-Marie-Tooth disease type 2B144Feb 20, 2020
Charcot-Marie-Tooth disease type 2D67Feb 20, 2020
Charcot-Marie-Tooth disease type 493Jun 11, 2024
Charcot-Marie-Tooth disease type 4B169Feb 20, 2020
Charcot-Marie-Tooth disease type 4B2137Feb 20, 2020
Charcot-Marie-Tooth disease type 4C531Feb 20, 2020
Charcot-Marie-Tooth disease type 4D89Feb 20, 2020
Charcot-Marie-Tooth disease type 4E28Oct 18, 2016
Charcot-Marie-Tooth disease type 4F128Feb 20, 2020
Charcot-Marie-Tooth disease type 4H164Feb 20, 2020
Charcot-Marie-Tooth disease type 4J58Feb 20, 2020
Charcot-Marie-Tooth disease, axonal, type 2FF1Apr 12, 2024
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive83Feb 20, 2020
Charcot-Marie-Tooth disease, type I76Feb 20, 2020
Charcot-Marie-Tooth with Vocal Cord Paresis9Oct 18, 2016
Charcot-Marie-Tooth, Intermediate22Oct 18, 2016
Charcot-Marie-Tooth, X-linked2Oct 18, 2016
Charlevoix-Saguenay spastic ataxia262Nov 6, 2023
Chilblain lupus 248Feb 20, 2020
Childhood apraxia of speech123Aug 9, 2021
Childhood onset GLUT1 deficiency syndrome 21Dec 14, 2020
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Aug 9, 2021
Chitotriosidase deficiency90Feb 20, 2020
Cholestanol storage disease58Sep 8, 2024
Cholestasis, intrahepatic, of pregnancy, 363Feb 20, 2020
Chondrocalcinosis29Oct 18, 2016
Chondrocalcinosis 2193Feb 20, 2020
Chondrodysplasia17Oct 18, 2016
Chondrodysplasia Blomstrand type46Feb 20, 2020
Chondrodysplasia punctata 2 X-linked dominant1Dec 14, 2020
Chondrodysplasia with joint dislocations, gPAPP type158Feb 20, 2020
Chopra-Amiel-Gordon syndrome1Dec 16, 2021
Chorea-acanthocytosis225Feb 20, 2020
Choroidal Dystrophy6Oct 18, 2016
Choroidal dystrophy, central areolar 276Feb 20, 2020
Chromosome 2q32-q33 deletion syndrome1Jul 16, 2020
Chronic granulomatous disease10Oct 18, 2016
Chronic infantile neurological, cutaneous and articular syndrome91Feb 20, 2020
Chudley-McCullough syndrome59Feb 20, 2020
Chédiak-Higashi syndrome251Feb 20, 2020
Citrin deficiency3Oct 18, 2016
Citrullinemia type I104Feb 20, 2020
Citrullinemia type II70Feb 20, 2020
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Dec 14, 2020
Classic homocystinuria84Apr 25, 2024
Cleft Lip +/- Cleft Palate, Autosomal Dominant41Oct 18, 2016
Cleft lip/palate-ectodermal dysplasia syndrome142Feb 20, 2020
Cleft palate with or without ankyloglossia, X-linked31Feb 20, 2020
Cleidocranial dysostosis100Feb 20, 2020
Cobalamin C disease2Aug 9, 2021
Cockayne syndrome43Oct 18, 2016
Cockayne syndrome type 150Feb 20, 2020
Cockayne syndrome type 2151Feb 20, 2020
Coenzyme Q10 deficiency14Feb 1, 2019
Coenzyme Q10 deficiency, Oculomotor Apraxia Type14Oct 18, 2016
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type31Oct 18, 2016
Coffin-Lowry syndrome1Apr 12, 2024
Coffin-Siris syndrome97Jul 16, 2020
Coffin-Siris syndrome 15Mar 19, 2024
Coffin-Siris syndrome 71Dec 16, 2021
Cohen syndrome292Mar 19, 2024
Collagen 6-related myopathy743May 28, 2024
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome14Oct 18, 2016
Colorectal cancer2Oct 18, 2016
Colorectal cancer, hereditary nonpolyposis, type 268Feb 20, 2020
Colorectal cancer, hereditary nonpolyposis, type 7137Feb 20, 2020
Combined PSAP deficiency106Feb 20, 2020
Combined Pituitary Hormone Deficiency, Dominant6Oct 18, 2016
Combined Pituitary Hormone Deficiency, Dominant/Recessive7Oct 18, 2016
Combined Pituitary Hormone Deficiency, Recessive21Oct 18, 2016
Combined deficiency of sialidase AND beta galactosidase47Feb 20, 2020
Combined immunodeficiency due to CD3gamma deficiency27Apr 25, 2024
Combined immunodeficiency due to DOCK8 deficiency196Feb 20, 2020
Combined immunodeficiency due to ZAP70 deficiency52Feb 20, 2020
Combined molybdoflavoprotein enzyme deficiency46Oct 18, 2016
Combined oxidative phosphorylation defect type 452Feb 20, 2020
Combined oxidative phosphorylation defect type 743Feb 20, 2020
Combined oxidative phosphorylation defect type 8123Feb 20, 2020
Combined oxidative phosphorylation deficiency41Oct 18, 2016
Common Variable Immune Deficiency, Dominant22Oct 18, 2016
Common Variable Immune Deficiency, Recessive5Oct 18, 2016
Complement component 2 deficiency71Feb 20, 2020
Complement component 3 deficiency121Feb 20, 2020
Complex neurodevelopmental disorder5Sep 19, 2023
Cone dystrophy22Oct 18, 2016
Cone dystrophy 349Feb 20, 2020
Cone dystrophy 478Jun 29, 2023
Cone dystrophy with supernormal rod response89Feb 20, 2020
Cone-Rod Dystrophy, Dominant72Oct 18, 2016
Cone-Rod Dystrophy, Recessive151Oct 18, 2016
Cone-rod dystrophy114Feb 20, 2020
Cone-rod dystrophy 1059Feb 20, 2020
Cone-rod dystrophy 1166Feb 20, 2020
Cone-rod dystrophy 12108Feb 20, 2020
Cone-rod dystrophy 1382Feb 20, 2020
Cone-rod dystrophy 15127Feb 20, 2020
Cone-rod dystrophy 1656Feb 20, 2020
Cone-rod dystrophy 2129Feb 20, 2020
Cone-rod dystrophy 5154Feb 20, 2020
Cone-rod dystrophy 7133Feb 20, 2020
Cone-rod dystrophy 962Feb 20, 2020
Cone-rod synaptic disorder, congenital nonprogressive101Feb 20, 2020
Congenital Adrenal Insufficiency1Oct 18, 2016
Congenital Indifference to Pain24Oct 18, 2016
Congenital Muscular Dystrophy, CHKB-related1Oct 18, 2016
Congenital Muscular Dystrophy, ITGA7-related2Oct 18, 2016
Congenital Muscular Dystrophy, LAMA2-related11Dec 16, 2021
Congenital Muscular Dystrophy, alpha-dystroglycan related259Feb 20, 2020
Congenital Myasthenic Syndrome, Dominant/Recessive21Oct 18, 2016
Congenital Myasthenic Syndrome, Recessive39Oct 18, 2016
Congenital Stationary Night Blindness, Dominant8Oct 18, 2016
Congenital Stationary Night Blindness, Recessive57Jul 29, 2024
Congenital absence of salivary gland12Feb 20, 2020
Congenital adrenal hyperplasia13Oct 18, 2016
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency122Dec 16, 2021
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency30Sep 8, 2024
Congenital afibrinogenemia137Feb 20, 2020
Congenital amegakaryocytic thrombocytopenia77Feb 20, 2020
Congenital aniridia57Oct 18, 2016
Congenital bile acid synthesis defect6Oct 18, 2016
Congenital bile acid synthesis defect 295Feb 20, 2020
Congenital brain dysgenesis due to glutamine synthetase deficiency133Feb 20, 2020
Congenital central hypoventilation60Feb 20, 2020
Congenital cerebellar hypoplasia61Oct 18, 2016
Congenital contractural arachnodactyly273Dec 20, 2021
Congenital defect of folate absorption129Feb 20, 2020
Congenital disorder of deglycosylation 21Dec 13, 2022
Congenital disorder of glycosylation347Feb 20, 2020
Congenital disorder of glycosylation type 1E22Sep 8, 2024
Congenital dyserythropoietic anemia17Oct 18, 2016
Congenital dyserythropoietic anemia type 434Feb 20, 2020
Congenital dyserythropoietic anemia, type I142Feb 20, 2020
Congenital dyserythropoietic anemia, type II57Feb 20, 2020
Congenital fibrinogen deficiency1Aug 9, 2021
Congenital fibrosis of extraocular muscles5Oct 18, 2016
Congenital fibrosis of extraocular muscles type 1113Jul 16, 2020
Congenital generalized lipodystrophy6Oct 18, 2016
Congenital generalized lipodystrophy type 174Nov 6, 2023
Congenital generalized lipodystrophy type 237Feb 20, 2020
Congenital generalized lipodystrophy type 463Feb 20, 2020
Congenital glucose-galactose malabsorption113Feb 20, 2020
Congenital heart defects 1, nonsyndromic, 114Oct 18, 2016
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Sep 19, 2023
Congenital heart defects, multiple types, 41Mar 19, 2024
Congenital hyperammonemia, type I128Apr 1, 2020
Congenital hypomyelination neuropathy with or without arthrogryposis2Jun 1, 2022
Congenital hypothyroidism20Oct 18, 2016
Congenital ichthyosiform erythroderma28Oct 18, 2016
Congenital ichthyosis of skin165Feb 20, 2020
Congenital insensitivity to pain-hypohidrosis syndrome2Aug 9, 2021
Congenital isolated adrenocorticotropic hormone deficiency73Feb 20, 2020
Congenital lactase deficiency111Feb 20, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type160Feb 20, 2020
Congenital lipoid adrenal hyperplasia due to STAR deficency57Feb 20, 2020
Congenital long QT syndrome597Oct 18, 2016
Congenital microvillous atrophy316Feb 20, 2020
Congenital multicore myopathy with external ophthalmoplegia408Dec 14, 2020
Congenital muscular dystrophy due to LMNA mutation54Dec 14, 2020
Congenital muscular dystrophy due to integrin alpha-7 deficiency1Feb 1, 2019
Congenital muscular dystrophy due to partial LAMA2 deficiency263Sep 8, 2024
Congenital muscular dystrophy with intellectual disability and severe epilepsy32Feb 20, 2020
Congenital muscular hypertrophy-cerebral syndrome85Dec 14, 2020
Congenital myasthenic syndrome220Sep 8, 2024
Congenital myasthenic syndrome 1149Aug 9, 2021
Congenital myasthenic syndrome 12159Feb 20, 2020
Congenital myasthenic syndrome 132Nov 15, 2023
Congenital myasthenic syndrome 16199Feb 20, 2020
Congenital myasthenic syndrome 4C62Feb 20, 2020
Congenital myasthenic syndrome 568Feb 20, 2020
Congenital myasthenic syndrome 971Feb 20, 2020
Congenital myopathy 2324Feb 20, 2020
Congenital myopathy 4B, autosomal recessive118Feb 20, 2020
Congenital myopathy with fiber type disproportion173Feb 20, 2020
Congenital myotonia, autosomal dominant form1Dec 20, 2021
Congenital nephrotic syndrome135Feb 20, 2020
Congenital nonprogressive myopathy with Moebius and Robin sequences2Dec 14, 2020
Congenital nuclear cataract7Oct 18, 2016
Congenital plasminogen activator inhibitor type 1 deficiency73Feb 20, 2020
Congenital prothrombin deficiency37Feb 20, 2020
Congenital secretory diarrhea, chloride type65Feb 20, 2020
Congenital secretory sodium diarrhea 32Mar 19, 2024
Congenital sensory neuropathy with selective loss of small myelinated fibers20Feb 20, 2020
Congenital stationary night blindness 1A29Feb 20, 2020
Congenital stationary night blindness 1C140Feb 20, 2020
Congenital stationary night blindness 1D105Feb 20, 2020
Congenital stationary night blindness 1E174Feb 20, 2020
Congenital stationary night blindness 1F55Feb 20, 2020
Congenital stationary night blindness 1G1Jul 29, 2024
Congenital stationary night blindness autosomal dominant 175Feb 20, 2020
Congenital stationary night blindness autosomal dominant 2121Feb 20, 2020
Congenital stationary night blindness autosomal dominant 349Feb 20, 2020
Congenital stromal corneal dystrophy41Feb 20, 2020
Congenital vertical talus40Feb 20, 2020
Corneal Dystrophy, Dominant2Oct 18, 2016
Corneal Dystrophy, Dominant/Recessive2Oct 18, 2016
Corneal Dystrophy, Recessive24Oct 18, 2016
Corneal dystrophy295Feb 20, 2020
Cornelia de Lange syndrome 198Dec 14, 2020
Cornelia de Lange syndrome 360Apr 12, 2024
Cornelia de Lange syndrome 41Jul 16, 2020
Cornelia de Lange syndrome 52Mar 19, 2024
Cortical dysplasia-focal epilepsy syndrome248Feb 20, 2020
Cortical pulverulent cataract1Oct 18, 2016
Corticosterone 18-monooxygenase deficiency92Feb 20, 2020
Corticosterone methyloxidase type 2 deficiency92Feb 20, 2020
Costello syndrome2Mar 19, 2024
Cowden syndrome 11Jul 16, 2020
Coxopodopatellar syndrome67Feb 20, 2020
Cranioectodermal dysplasia27Oct 18, 2016
Cranioectodermal dysplasia 190Feb 20, 2020
Cranioectodermal dysplasia 2158Feb 20, 2020
Cranioectodermal dysplasia 31Feb 1, 2019
Cranioectodermal dysplasia 484Feb 20, 2020
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11Dec 14, 2020
Craniofacial-deafness-hand syndrome41Feb 20, 2020
Craniofrontonasal syndrome1Dec 13, 2022
Craniometadiaphyseal dysplasia wormian bone type29Oct 18, 2016
Craniometaphyseal dysplasia, autosomal dominant193Feb 20, 2020
Craniosynostosis 258Feb 20, 2020
Craniosynostosis syndrome240Feb 20, 2020
Cranium bifidum occultum8Oct 18, 2016
Creatine transporter deficiency2Sep 19, 2023
Crigler-Najjar syndrome42Feb 20, 2020
Crohn disease5Oct 18, 2016
Crouzon syndrome99Feb 20, 2020
Cryopyrin associated periodic syndrome1Jun 1, 2022
Curry-Hall syndrome12Oct 18, 2016
Cutaneous Malignant Melanoma, Dominant5Oct 18, 2016
Cutaneous porphyria31Feb 20, 2020
Cutis Laxa, Dominant/Recessive3Oct 18, 2016
Cutis laxa99Feb 20, 2020
Cutis laxa with osteodystrophy143Feb 20, 2020
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies84Apr 12, 2024
Cutis laxa, autosomal dominant23Oct 18, 2016
Cutis laxa, autosomal dominant 183Feb 20, 2020
Cutis laxa, autosomal recessive, type 1B37Feb 20, 2020
Cutis laxa, recessive35Oct 18, 2016
Cystathioninuria54Feb 20, 2020
Cystic fibrosis37May 23, 2024
Cystic leukoencephalopathy without megalencephaly45Apr 1, 2020
Cystinosis13Oct 18, 2016
Cystinuria150Feb 20, 2020
D-2-hydroxyglutaric aciduria3Oct 18, 2016
D-2-hydroxyglutaric aciduria 1115Feb 20, 2020
DCTN1-related disorder1Feb 1, 2019
DDX3X-related X-linked intellectual disability2Dec 16, 2021
DDX41-related hematologic malignancy predisposition syndrome2Mar 19, 2024
DFNB31-related disorder1Feb 1, 2019
DHX9-related neurodevelopmental disorder1Nov 6, 2023
DICER1-related tumor predisposition159Mar 19, 2024
DK1-congenital disorder of glycosylation42Feb 20, 2020
DLD-related disorder4Feb 1, 2019
DLG4-related synaptopathy1Aug 9, 2021
DLL3-related disorder3Feb 1, 2019
DNA ligase IV deficiency84Feb 20, 2020
DPAGT1-congenital disorder of glycosylation31Feb 20, 2020
DPM3-congenital disorder of glycosylation2Feb 20, 2020
DSP-related cardiomyopathy1Nov 6, 2023
DSP-related disorder1Feb 1, 2019
DYNC1H1-related neurodevelopmental disorders6Dec 16, 2021
DYNC1H1-related neurological disorders1Mar 15, 2024
DYNC1H1-related neuronopathy3Dec 13, 2022
DYNC2H1-related disorder6Feb 1, 2019
DYRK1A-related intellectual disability syndrome5Mar 19, 2024
DYSF-related disorder4Dec 13, 2022
Dalmatian hypouricemia85Feb 20, 2020
Danon disease97Feb 20, 2020
De Lange syndrome33Aug 9, 2021
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome34Feb 20, 2020
Deafness-lymphedema-leukemia syndrome76Feb 20, 2020
Decreased response to growth hormone stimulation test44Feb 20, 2020
Deficiency of 2-methylbutyryl-CoA dehydrogenase145Feb 20, 2020
Deficiency of 3-hydroxyacyl-CoA dehydrogenase48Feb 20, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase35Apr 12, 2024
Deficiency of acetyl-CoA acetyltransferase65Feb 20, 2020
Deficiency of alpha-mannosidase109Feb 20, 2020
Deficiency of aromatic-L-amino-acid decarboxylase55Feb 20, 2020
Deficiency of beta-ureidopropionase61Feb 20, 2020
Deficiency of butyryl-CoA dehydrogenase59May 23, 2024
Deficiency of butyrylcholinesterase52Feb 20, 2020
Deficiency of cytochrome-b5 reductase1Dec 14, 2020
Deficiency of ferroxidase107Feb 20, 2020
Deficiency of galactokinase41Feb 20, 2020
Deficiency of guanidinoacetate methyltransferase46Feb 20, 2020
Deficiency of hyaluronoglucosaminidase41Feb 20, 2020
Deficiency of hydroxymethylglutaryl-CoA lyase34Jul 29, 2024
Deficiency of iodide peroxidase109Feb 20, 2020
Deficiency of isobutyryl-CoA dehydrogenase61Feb 20, 2020
Deficiency of malonyl-CoA decarboxylase81Feb 20, 2020
Deficiency of phosphoserine phosphatase71Feb 20, 2020
Deficiency of ribose-5-phosphate isomerase32Feb 20, 2020
Deficiency of steroid 11-beta-monooxygenase116Feb 20, 2020
Deficiency of steroid 17-alpha-monooxygenase26Jun 11, 2024
Deficiency of transaldolase37Feb 20, 2020
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Dec 14, 2020
Dementia, Deafness, and Sensory Neuropathy6Oct 18, 2016
Dent disease22Oct 18, 2016
Dent disease type 186Feb 20, 2020
Dermatofibrosis lenticularis disseminata83Feb 20, 2020
Desbuquois dysplasia 1100Feb 20, 2020
Desbuquois syndrome2Oct 18, 2016
Desmin-related myofibrillar myopathy48Apr 12, 2024
Desmosterolosis92Feb 20, 2020
Developmental and epileptic encephalopathy, 12104Feb 20, 2020
Developmental and epileptic encephalopathy, 132Dec 14, 2020
Developmental and epileptic encephalopathy, 182Mar 19, 2024
Developmental and epileptic encephalopathy, 262Mar 19, 2024
Developmental and epileptic encephalopathy, 281Dec 16, 2021
Developmental and epileptic encephalopathy, 31A1Dec 16, 2021
Developmental and epileptic encephalopathy, 393Oct 18, 2016
Developmental and epileptic encephalopathy, 41Jul 16, 2020
Developmental and epileptic encephalopathy, 422Jul 16, 2020
Developmental and epileptic encephalopathy, 51Jun 1, 2022
Developmental and epileptic encephalopathy, 502Dec 14, 2020
Developmental and epileptic encephalopathy, 541Mar 19, 2024
Developmental and epileptic encephalopathy, 562Nov 6, 2023
Developmental and epileptic encephalopathy, 642Nov 15, 2023
Developmental and epileptic encephalopathy, 691Dec 14, 2020
Developmental and epileptic encephalopathy, 801Sep 19, 2023
Developmental cataract24Oct 18, 2016
Developmental delay and seizures with or without movement abnormalities1Jun 29, 2023
Developmental delay, hypotonia, and impaired language1Nov 6, 2023
Developmental delay, impaired speech, and behavioral abnormalities1Mar 19, 2024
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures3Mar 15, 2024
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension19Feb 20, 2020
Diabetes insipidus, nephrogenic, X-linked41Feb 20, 2020
Diabetes insipidus, nephrogenic, autosomal100Feb 20, 2020
Diabetes mellitus, transient neonatal, 127Feb 20, 2020
Diabetes mellitus, transient neonatal, 2109Feb 20, 2020
Diabetes mellitus, transient neonatal, 364Feb 20, 2020
Diamond-Blackfan anemia21Oct 18, 2016
Diamond-Blackfan anemia 124Feb 20, 2020
Diamond-Blackfan anemia 1019Feb 20, 2020
Diamond-Blackfan anemia 321Feb 20, 2020
Diamond-Blackfan anemia 510Feb 20, 2020
Diamond-Blackfan anemia 632Feb 20, 2020
Diamond-Blackfan anemia 712Feb 20, 2020
Diamond-Blackfan anemia 814Feb 20, 2020
Diamond-Blackfan anemia 918Feb 20, 2020
Diaphanospondylodysostosis113Feb 20, 2020
Diaphyseal medullary stenosis-bone malignancy syndrome122Feb 20, 2020
Diarrhea with Microvillus Atrophy18Oct 18, 2016
Dias-Logan syndrome1Jul 16, 2020
Diastrophic dysplasia152Feb 20, 2020
Dicarboxylic aminoaciduria116Feb 20, 2020
Diffuse nonepidermolytic palmoplantar keratoderma39Feb 20, 2020
Dihydropteridine reductase deficiency39Mar 19, 2024
Dihydropyrimidinase deficiency47Sep 8, 2024
Dihydropyrimidine dehydrogenase deficiency98Feb 20, 2020
Dilated Cardiomyopathy, Dominant404Oct 18, 2016
Dilated Cardiomyopathy, Recessive34Oct 18, 2016
Dilated cardiomyopathy 1A46Jun 29, 2023
Dilated cardiomyopathy 1AA87Feb 20, 2020
Dilated cardiomyopathy 1C25Feb 20, 2020
Dilated cardiomyopathy 1D13Feb 20, 2020
Dilated cardiomyopathy 1DD157Feb 20, 2020
Dilated cardiomyopathy 1E180Feb 20, 2020
Dilated cardiomyopathy 1G1790Apr 12, 2024
Dilated cardiomyopathy 1HH63Nov 6, 2023
Dilated cardiomyopathy 1I44Feb 20, 2020
Dilated cardiomyopathy 1J93Feb 20, 2020
Dilated cardiomyopathy 1O59Feb 20, 2020
Dilated cardiomyopathy 1P30Feb 20, 2020
Dilated cardiomyopathy 1R78Feb 20, 2020
Dilated cardiomyopathy 1S66Jul 16, 2020
Dilated cardiomyopathy 1U119Feb 20, 2020
Dilated cardiomyopathy 1V60Feb 20, 2020
Dilated cardiomyopathy 1W96Feb 20, 2020
Dilated cardiomyopathy 1X108Feb 20, 2020
Dilated cardiomyopathy 1Y29Feb 20, 2020
Dilated cardiomyopathy 1Z11Feb 20, 2020
Dilated cardiomyopathy 2A28Feb 20, 2020
Dilated cardiomyopathy 3B210Feb 20, 2020
Disease Association NOS1Oct 18, 2016
Disorders of GNAS Inactivation3Nov 6, 2023
Disorders of Intracellular Cobalamin Metabolism512Sep 8, 2024
Distal Renal Tubular Acidosis, Dominant9Oct 18, 2016
Distal arthrogryposis4Oct 18, 2016
Distal arthrogryposis type 2B1181Feb 20, 2020
Distal arthrogryposis type 5D1Jun 29, 2023
Distal myopathy6Oct 18, 2016
Distal spinal muscular atrophy92Feb 20, 2020
Distichiasis-lymphedema syndrome2Sep 19, 2023
Donnai-Barrow syndrome390Feb 20, 2020
Dopa-responsive dystonia9Oct 18, 2016
Dopa-responsive dystonia due to sepiapterin reductase deficiency30Feb 20, 2020
Doyne honeycomb retinal dystrophy60Feb 20, 2020
Duane retraction syndrome5Oct 18, 2016
Duane retraction syndrome 246Feb 20, 2020
Dubin-Johnson syndrome132Feb 20, 2020
Dyggve-Melchior-Clausen syndrome41Feb 20, 2020
Dyskeratosis Congenita, Dominant4Oct 18, 2016
Dyskeratosis Congenita, Recessive27Oct 18, 2016
Dyskeratosis congenita216Feb 20, 2020
Dyskeratosis congenita, X-linked1Dec 14, 2020
Dyskeratosis congenita, autosomal dominant 270Feb 20, 2020
Dyskeratosis congenita, autosomal dominant 336Feb 20, 2020
Dyskeratosis congenita, autosomal recessive 121Feb 20, 2020
Dyskeratosis congenita, autosomal recessive 343Feb 20, 2020
Dystonia 1271Feb 20, 2020
Dystonia 1642Feb 20, 2020
Dystonia 568Feb 20, 2020
Dystonia 983Feb 20, 2020
Dystonic disorder33Oct 18, 2016
EAST syndrome93Feb 20, 2020
EDNRB-related disorder1Feb 1, 2019
EEM syndrome112Feb 20, 2020
ENPP1-related disorder2Feb 1, 2019
ERCC2-related disorder4Jun 11, 2024
ERCC6-related disorder7Feb 1, 2019
EVC-related disorder3Feb 1, 2019
EYA4-related disorder1Feb 1, 2019
Early Infantile Epileptic Encephalopathy, Autosomal Dominant36Oct 18, 2016
Early Infantile Epileptic Encephalopathy, Autosomal Recessive42Oct 18, 2016
Early myoclonic encephalopathy92Feb 20, 2020
Early-onset autosomal dominant Alzheimer disease17Oct 18, 2016
Early-onset generalized limb-onset dystonia50Mar 19, 2024
Early-onset myopathy with fatal cardiomyopathy1813Feb 20, 2020
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant2Feb 1, 2019
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive7Feb 20, 2020
Ectodermal dysplasia and immunodeficiency 234Feb 20, 2020
Ectopia lentis48Oct 18, 2016
Ectopia lentis 1, isolated, autosomal dominant194Feb 20, 2020
Ectopia lentis 2, isolated, autosomal recessive127Feb 20, 2020
Ectrodactyly14Oct 18, 2016
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 392Feb 20, 2020
Ehlers-Danlos syndrome due to tenascin-X deficiency4Dec 14, 2020
Ehlers-Danlos syndrome type 7A302Oct 18, 2016
Ehlers-Danlos syndrome, arthrochalasia type138Jul 16, 2020
Ehlers-Danlos syndrome, classic type111Feb 20, 2020
Ehlers-Danlos syndrome, classic type, 11Sep 19, 2023
Ehlers-Danlos syndrome, classic type, 294Feb 20, 2020
Ehlers-Danlos syndrome, dermatosparaxis type197Jul 9, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type 187Feb 20, 2020
Ehlers-Danlos syndrome, type 4116Feb 20, 2020
Ehlers-danlos syndrome, arthrochalasia type, 2117Feb 20, 2020
Elevated circulating glutaric acid concentration4Oct 18, 2016
Elliptocytosis155Oct 18, 2016
Elliptocytosis 2245Aug 9, 2021
Ellis-van Creveld syndrome402Feb 20, 2020
Emery-Dreifuss muscular dystrophy77Feb 20, 2020
Emery-Dreifuss muscular dystrophy 1, X-linked2Apr 12, 2024
Emery-Dreifuss muscular dystrophy 2, autosomal dominant44Feb 20, 2020
Emery-Dreifuss muscular dystrophy 4, autosomal dominant550Mar 19, 2024
Emery-Dreifuss muscular dystrophy 5, autosomal dominant502Feb 20, 2020
Encephalopathy due to GLUT1 deficiency83Mar 19, 2024
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome38Feb 20, 2020
Endocardial fibroelastosis21Feb 20, 2020
Enhanced S-cone syndrome60Feb 20, 2020
Epidermolysis bullosa dystrophica250Feb 20, 2020
Epidermolysis bullosa simplex69Feb 20, 2020
Epidermolysis bullosa simplex due to plakophilin deficiency170Feb 20, 2020
Epidermolysis bullosa simplex with mottled pigmentation1Dec 14, 2020
Epidermolysis bullosa simplex, Ogna type1Mar 19, 2024
Epidermolytic hyperkeratosis 11Nov 6, 2023
Epidermolytic ichthyosis39Feb 20, 2020
Epilepsy62Oct 18, 2016
Epilepsy, childhood absence 273Feb 20, 2020
Epilepsy, familial focal, with variable foci 12Mar 19, 2024
Epilepsy, familial focal, with variable foci 21Aug 9, 2021
Epilepsy, familial focal, with variable foci 31Dec 14, 2020
Epilepsy, familial temporal lobe, 124Feb 20, 2020
Epilepsy, idiopathic generalized, susceptibility to, 1398Feb 20, 2020
Epilepsy, progressive myoclonic, 1B6Oct 18, 2016
Epileptic encephalopathy4Oct 18, 2016
Epiphyseal dysplasia, multiple, 291Feb 20, 2020
Epiphyseal dysplasia, multiple, 31Feb 1, 2019
Episodic ataxia type 1152Feb 20, 2020
Episodic ataxia type 5128Feb 20, 2020
Episodic ataxia type 678Feb 20, 2020
Erythrocyte AMP deaminase deficiency111Feb 20, 2020
Erythrocytosis, familial, 3138Feb 20, 2020
Erythrocytosis, familial, 4130Feb 20, 2020
Erythrokeratodermia variabilis et progressiva 171Feb 20, 2020
Essential fructosuria78Feb 20, 2020
Ethylmalonic encephalopathy31Sep 8, 2024
Exercise-induced hyperinsulinism67Feb 20, 2020
Exostoses, multiple, type 292Feb 20, 2020
Exudative vitreoretinopathy 1115Feb 20, 2020
Exudative vitreoretinopathy 534Feb 20, 2020
F12-related disorder1Oct 18, 2016
F2-related disorder2Feb 1, 2019
FAR1-related neurodevelopmental disorder1Dec 16, 2021
FBN1-related disorder2Jul 16, 2020
FBXO28-related developmental and epileptic encephalopathy1Aug 9, 2021
FBXW11-related neurodevelopmental, brain, eye, and digit anomalies1Aug 9, 2021
FGA-related disorder3Feb 1, 2019
FGFR1-related craniosynostosis syndrome1Dec 20, 2021
FGFR2-related syndromic and non-syndromic craniosynostoses1Dec 14, 2020
FH-related disorder1Feb 1, 2019
FHL1-related disorder1Dec 16, 2021
FIG4-related disorder3Aug 9, 2021
FKTN-related disorder1Feb 1, 2019
FLG-related disorder5Sep 8, 2024
FLNA-related otopalatodigital spectrum disorders1Jul 16, 2020
FLNA-related periventricular nodular heterotopia1Aug 9, 2021
FLNB-Related Spectrum Disorders259Dec 14, 2020
FLNC-related disorder1Mar 15, 2024
FSHR-related disorder1Feb 1, 2019
Fabry disease13Sep 8, 2024
Factor 5 and Factor VIII, combined deficiency of, 2104Feb 20, 2020
Factor V and factor VIII, combined deficiency of, type 1102Feb 20, 2020
Factor V deficiency202Feb 20, 2020
Factor VII Marburg I Variant Thrombophilia103Feb 20, 2020
Factor VII deficiency91Feb 20, 2020
Factor X deficiency16Feb 20, 2020
Factor XII deficiency disease50Feb 20, 2020
Factor XIII, A subunit, deficiency of73Feb 20, 2020
Factor XIII, b subunit, deficiency of44Feb 20, 2020
Familial Atypical Mycobacteriosis, Autosomal Dominant1Oct 18, 2016
Familial Atypical Mycobacteriosis, Autosomal Recessive6Oct 18, 2016
Familial Candidiasis, Recessive92Oct 18, 2016
Familial High Density Lipoprotein Deficiency19Oct 18, 2016
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome75Feb 20, 2020
Familial Mediterranean fever120Nov 6, 2023
Familial Periodic Fever7Oct 18, 2016
Familial X-linked hypophosphatemic vitamin D refractory rickets46Nov 6, 2023
Familial adenomatous polyposis 262Jul 29, 2024
Familial amyloid nephropathy with urticaria AND deafness91Feb 20, 2020
Familial aplasia of the vermis89Oct 18, 2016
Familial apolipoprotein C-II deficiency23Feb 20, 2020
Familial atrial fibrillation68Oct 18, 2016
Familial benign pemphigus70Feb 20, 2020
Familial cancer of breast56Apr 25, 2024
Familial cold autoinflammatory syndrome23Oct 18, 2016
Familial cold autoinflammatory syndrome 187Feb 20, 2020
Familial cold autoinflammatory syndrome 2106Feb 20, 2020
Familial cylindromatosis115Feb 20, 2020
Familial dysautonomia155Feb 20, 2020
Familial encephalopathy with neuroserpin inclusion bodies35Feb 20, 2020
Familial erythrocytosis40Oct 18, 2016
Familial exudative vitreoretinopathy20Oct 18, 2016
Familial hemiplegic migraine17Oct 18, 2016
Familial hemophagocytic lymphohistiocytosis33Oct 18, 2016
Familial hemophagocytic lymphohistiocytosis 272Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis 3133Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis 4111Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis 548Feb 20, 2020
Familial hyperaldosteronism45Oct 18, 2016
Familial hyperaldosteronism type III74Feb 20, 2020
Familial hyperinsulinism114Feb 20, 2020
Familial hyperkalemic periodic paralysis204Feb 20, 2020
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome11Oct 18, 2016
Familial hyperthyroidism due to mutations in TSH receptor91Feb 20, 2020
Familial hypobetalipoproteinemia60Oct 18, 2016
Familial hypobetalipoproteinemia 1264Feb 20, 2020
Familial hypocalciuric hypercalcemia3Oct 18, 2016
Familial hypocalciuric hypercalcemia 160Jun 1, 2022
Familial hypokalemia-hypomagnesemia190Dec 20, 2021
Familial hypoparathyroidism127Feb 20, 2020
Familial infantile myoclonic epilepsy191Feb 20, 2020
Familial isolated deficiency of vitamin E59Feb 20, 2020
Familial isolated pituitary adenoma1Oct 18, 2016
Familial juvenile hyperuricemic nephropathy type 152Feb 20, 2020
Familial juvenile hyperuricemic nephropathy type 228Feb 20, 2020
Familial multiple trichoepitheliomata109Feb 20, 2020
Familial partial lipodystrophy9Oct 18, 2016
Familial partial lipodystrophy, Dunnigan type41Feb 20, 2020
Familial porphyria cutanea tarda24Feb 20, 2020
Familial renal glucosuria62Feb 20, 2020
Familial restrictive cardiomyopathy112Feb 20, 2020
Familial spontaneous pneumothorax89Feb 20, 2020
Familial temporal lobe epilepsy 26Oct 18, 2016
Familial temporal lobe epilepsy 549Feb 20, 2020
Familial thoracic aortic aneurysm and aortic dissection667Feb 20, 2020
Familial visceral amyloidosis, Ostertag type97Feb 20, 2020
Fanconi Anemia, X-Linked3Oct 18, 2016
Fanconi anemia106Oct 18, 2016
Fanconi anemia complementation group A193Feb 20, 2020
Fanconi anemia complementation group B42Feb 20, 2020
Fanconi anemia complementation group C112Feb 20, 2020
Fanconi anemia complementation group D1201Mar 19, 2024
Fanconi anemia complementation group D2119Dec 14, 2020
Fanconi anemia complementation group E62Nov 6, 2023
Fanconi anemia complementation group F72Feb 20, 2020
Fanconi anemia complementation group G52Nov 15, 2023
Fanconi anemia complementation group I137Dec 14, 2020
Fanconi anemia complementation group J135Feb 20, 2020
Fanconi anemia complementation group L44Jun 11, 2024
Fanconi anemia complementation group N68Feb 20, 2020
Fanconi anemia complementation group O13Feb 20, 2020
Fanconi anemia complementation group P233Feb 20, 2020
Fanconi-Bickel syndrome74Feb 20, 2020
Farber lipogranulomatosis93Feb 20, 2020
Fatal Infantile Cardioencephalomyopathy25Oct 18, 2016
Fatal infantile hypertonic myofibrillar myopathy14Feb 20, 2020
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 344Feb 20, 2020
Fatal multiple mitochondrial dysfunctions syndrome3Oct 18, 2016
Febrile seizures, familial14Oct 18, 2016
Fetal akinesia deformation sequence 153Feb 20, 2020
Fetal hemoglobin quantitative trait locus 128Feb 20, 2020
Fibrochondrogenesis 1178Feb 20, 2020
Fibrochondrogenesis 2141Feb 20, 2020
Fibromatosis, gingival, 1132Feb 20, 2020
Fibrous dysplasia of jaw183Feb 20, 2020
Finnish congenital nephrotic syndrome18Nov 15, 2023
Finnish type amyloidosis75Feb 20, 2020
Fleck corneal dystrophy168Feb 20, 2020
Floating-Harbor syndrome7Jun 29, 2023
Focal segmental glomerulosclerosis40Oct 18, 2016
Focal segmental glomerulosclerosis 290Feb 20, 2020
Focal segmental glomerulosclerosis 3, susceptibility to98Feb 20, 2020
Focal segmental glomerulosclerosis 5125Feb 20, 2020
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Nov 6, 2023
Foveal hypoplasia 1124Feb 20, 2020
Fowler syndrome6Oct 18, 2016
Frank-Ter Haar syndrome200Feb 20, 2020
Fraser syndrome 1487Jun 11, 2024
Fraser syndrome 2343Feb 20, 2020
Fraser syndrome 382Feb 20, 2020
Freeman-Sheldon syndrome161Feb 20, 2020
Frontometaphyseal dysplasia 21Dec 14, 2020
Frontotemporal dementia36Oct 18, 2016
Frontotemporal dementia and/or amyotrophic lateral sclerosis 166Feb 20, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 650Feb 20, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 746Feb 20, 2020
Fructose-biphosphatase deficiency52Feb 20, 2020
Fucosidosis38Feb 20, 2020
Fumarase deficiency54Dec 13, 2022
Fundus dystrophy, pseudoinflammatory, recessive form14Oct 18, 2016
G6PD deficiency48Jun 29, 2023
GABRA4-related developmental and epileptic encephalopathy1Jan 12, 2024
GABRB2-related epileptic encephalopathy1Aug 9, 2021
GABRB2-related neurodevelopmental disorders1Dec 20, 2021
GARS-Associated Axonal Neuropathy1Jul 16, 2020
GARS1-related neuropathies1Jul 16, 2020
GATAD2B-related intellectual disability syndrome2Dec 14, 2020
GBE1-related disorder6Feb 1, 2019
GDAP1-related disorder1Feb 1, 2019
GEMIN5-related neurodevelopmental disorder1Dec 16, 2021
GFPT1-related myasthenic syndrome1Jun 1, 2022
GJB1-related disorder1Dec 16, 2021
GJB2-related disorder2Feb 1, 2019
GJB6-related disorder1Feb 1, 2019
GLE1-related disorder2Feb 1, 2019
GLI2-related disorder1Dec 14, 2020
GLI3-related disorder2Feb 1, 2019
GLUT1 deficiency syndrome13Oct 18, 2016
GM1 gangliosidosis60Feb 20, 2020
GM3 synthase deficiency59Mar 19, 2024
GNAO1-related developmental delay-seizures-movement disorder spectrum1Apr 12, 2024
GNE myopathy106Feb 20, 2020
GNPTAB-related disorder4Dec 14, 2022
GNPTG-mucolipidosis50Feb 20, 2020
GPSM2-related disorder3Feb 1, 2019
GRACILE syndrome21Feb 20, 2020
GRIA3-related complex neurodevelopmental disorder2Dec 16, 2021
GRIA4-related neurodevelopmental disorder2Dec 14, 2020
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions53Feb 20, 2020
GTP cyclohydrolase I deficiency74Feb 20, 2020
GTP cyclohydrolase I deficiency with hyperphenylalaninemia1Apr 12, 2024
Galactosemia2Nov 6, 2023
Galactosylceramide beta-galactosidase deficiency146Jul 29, 2024
Gamma-aminobutyric acid transaminase deficiency153Feb 20, 2020
Gastrointestinal defects and immunodeficiency syndrome 12Sep 19, 2023
Gastrointestinal stromal tumor224Feb 20, 2020
Gaucher disease2Sep 19, 2023
Gaucher disease due to saposin C deficiency68Feb 20, 2020
Gaucher disease type I3Jun 29, 2023
Gaze palsy, familial horizontal, with progressive scoliosis 1114Feb 20, 2020
Gelatinous droplike corneal dystrophy44Feb 20, 2020
Geleophysic dysplasia194Feb 20, 2020
Geleophysic dysplasia 1128Feb 20, 2020
Generalized epilepsy with febrile seizures plus18Jun 1, 2022
Generalized epilepsy with febrile seizures plus, type 142Aug 9, 2021
Generalized epilepsy with febrile seizures plus, type 299Feb 20, 2020
Generalized epilepsy with febrile seizures plus, type 72Feb 1, 2019
Generalized epilepsy-paroxysmal dyskinesia syndrome118Feb 20, 2020
Generalized juvenile polyposis/juvenile polyposis coli235Feb 20, 2020
Generalized pustular psoriasis67Feb 20, 2020
Genitourinary and/or brain malformation syndrome1Dec 14, 2020
Geroderma osteodysplastica53Feb 20, 2020
Giant axonal neuropathy 1125Sep 19, 2023
Gilbert syndrome43Feb 20, 2020
Gingival fibromatosis18Oct 18, 2016
Glanzmann thrombasthenia173Feb 20, 2020
Glaucoma47Feb 20, 2020
Glaucoma 1, open angle, A47Feb 20, 2020
Glaucoma 3, primary congenital, D200Feb 20, 2020
Glaucoma 3A112Feb 20, 2020
Globozoospermia49Feb 20, 2020
Glomuvenous malformation42Feb 20, 2020
Glucocorticoid Deficiency26Oct 18, 2016
Glucocorticoid deficiency 1101Feb 20, 2020
Glucocorticoid deficiency 225Feb 20, 2020
Glucocorticoid deficiency with achalasia51Feb 20, 2020
Glucocorticoid resistance127Feb 20, 2020
Glucocorticoid-remediable aldosteronism211Feb 20, 2020
Glutamate formiminotransferase deficiency23Feb 1, 2019
Glutaric aciduria, type 142Feb 20, 2020
Glycogen phosphorylase kinase deficiency30Oct 18, 2016
Glycogen storage disease IXa11Jul 16, 2020
Glycogen storage disease IXb109Feb 20, 2020
Glycogen storage disease IXc34Feb 20, 2020
Glycogen storage disease IXd53Feb 20, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA94Feb 20, 2020
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency30Feb 20, 2020
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency51Feb 20, 2020
Glycogen storage disease due to muscle and heart glycogen synthase deficiency91Feb 20, 2020
Glycogen storage disease due to muscle beta-enolase deficiency31Feb 20, 2020
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1Nov 15, 2023
Glycogen storage disease type III127Feb 20, 2020
Glycogen storage disease type X26Feb 20, 2020
Glycogen storage disease, type I53Feb 20, 2020
Glycogen storage disease, type II155Nov 6, 2023
Glycogen storage disease, type IV68Sep 8, 2024
Glycogen storage disease, type V87Apr 25, 2024
Glycogen storage disease, type VI58Feb 20, 2020
Glycogen storage disease, type VII49Feb 20, 2020
Glycogen storage disorder due to hepatic glycogen synthase deficiency79Jul 29, 2024
Glycosylphosphatidylinositol biosynthesis defect 212Mar 19, 2024
Goldberg-Shprintzen syndrome42Feb 20, 2020
Gonadotropin-independent familial sexual precocity62Feb 20, 2020
Gorlin syndrome192Jul 16, 2020
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 243Feb 20, 2020
Gray platelet syndrome203Feb 20, 2020
Grebe syndrome39Feb 20, 2020
Greenberg dysplasia90Feb 20, 2020
Greig cephalopolysyndactyly syndrome205Feb 20, 2020
Griscelli syndrome7Oct 18, 2016
Griscelli syndrome type 290Feb 20, 2020
Growth delay due to insulin-like growth factor I resistance414Feb 20, 2020
Growth delay due to insulin-like growth factor type 1 deficiency140Feb 20, 2020
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1Dec 16, 2021
H syndrome67Feb 20, 2020
HADHA-related disorder3Feb 1, 2019
HBB-related disorder3Jun 1, 2022
HBD-related disorder1Feb 20, 2020
HECW2-related neurodevelopmental disorder1Dec 14, 2020
HIVEP2-related syndromic intellectual disability1Dec 14, 2020
HNRNPU-related developmental and epileptic encephalopathy1Aug 9, 2021
HNSHA due to aldolase A deficiency22Oct 18, 2016
HPGD-related disorder1Feb 1, 2019
HR-related disorder1Feb 1, 2019
HSD17B4-related disorder1Feb 1, 2019
HSPB1-related axonal neuropathies2Dec 20, 2021
HSPB1-related disorder1Feb 1, 2019
HSPB8-related neuromuscular disorder1Apr 12, 2024
HSPG2-related disorder2Feb 1, 2019
HTRA1-related cerebral small vessel disease1Feb 1, 2019
Haim-Munk syndrome46Feb 20, 2020
Hao-Fountain syndrome1Oct 7, 2021
Harel-Yoon syndrome7Jun 1, 2022
Hartsfield-Bixler-Demyer syndrome1Nov 15, 2023
Hawkinsinuria32Feb 20, 2020
Hb SS disease16Jun 29, 2023
Hearing loss, X-linked 123Feb 20, 2020
Hearing loss, X-linked 48Feb 20, 2020
Hearing loss, autosomal recessive216Apr 1, 2020
Hecht syndrome114Feb 20, 2020
Hemochromatosis type 146Jun 29, 2023
Hemochromatosis type 2A46Jul 29, 2024
Hemochromatosis type 2B8Feb 20, 2020
Hemochromatosis type 383Feb 20, 2020
Hemochromatosis type 447Feb 20, 2020
Hemochromatosis type 518Feb 20, 2020
Hemoglobin E14Feb 20, 2020
Hemoglobin E disease1Feb 1, 2019
Hemolytic anemia130Feb 20, 2020
Hemolytic uremic syndrome, atypical, susceptibility to, 181Feb 20, 2020
Hemophilia A, FVIII Deficiency1Oct 18, 2016
Hemophilia B, Factor IX Deficiency5Oct 18, 2016
Hennekam lymphangiectasia-lymphedema syndrome 1216Feb 20, 2020
Hepatic methionine adenosyltransferase deficiency96Feb 20, 2020
Hepatic veno-occlusive disease-immunodeficiency syndrome66Feb 20, 2020
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 170Feb 20, 2020
Hereditary Multiple Osteochondromatosis6Oct 18, 2016
Hereditary Neuralgic Amyotrophy (HNA)14Oct 18, 2016
Hereditary North American Indian childhood cirrhosis38Feb 20, 2020
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis37Oct 18, 2016
Hereditary acrodermatitis enteropathica83Feb 20, 2020
Hereditary angioedema type 140Feb 20, 2020
Hereditary angioedema type 339Feb 20, 2020
Hereditary angioneurotic edema16Oct 18, 2016
Hereditary antithrombin deficiency24Feb 20, 2020
Hereditary breast ovarian cancer syndrome34Oct 18, 2016
Hereditary cancer-predisposing syndrome38Apr 12, 2024
Hereditary coproporphyria80Feb 20, 2020
Hereditary diffuse gastric adenocarcinoma110Feb 20, 2020
Hereditary diffuse leukoencephalopathy with spheroids132Dec 16, 2021
Hereditary episodic ataxia96Oct 18, 2016
Hereditary essential tremor10Oct 18, 2016
Hereditary factor IX deficiency disease29Feb 20, 2020
Hereditary factor VIII deficiency disease66Dec 14, 2020
Hereditary factor X deficiency disease31Feb 20, 2020
Hereditary factor XI deficiency disease84Sep 8, 2024
Hereditary fructosuria64Feb 20, 2020
Hereditary hemochromatosis8Oct 18, 2016
Hereditary hyperferritinemia with congenital cataracts39Feb 20, 2020
Hereditary insensitivity to pain with anhidrosis78Feb 20, 2020
Hereditary intrinsic factor deficiency31Feb 20, 2020
Hereditary leiomyomatosis and renal cell cancer90Aug 9, 2021
Hereditary liability to pressure palsies42Feb 20, 2020
Hereditary motor and sensory neuropathy13Oct 18, 2016
Hereditary motor and sensory neuropathy with optic atrophy98Feb 20, 2020
Hereditary pancreatitis61Feb 20, 2020
Hereditary pheochromocytoma-paraganglioma195Feb 20, 2020
Hereditary sensory and autonomic neuropathy type 232Oct 18, 2016
Hereditary sensory and autonomic neuropathy type 697Aug 9, 2021
Hereditary sensory and autonomic neuropathy with spastic paraplegia93Feb 20, 2020
Hereditary sensory neuropathy-deafness-dementia syndrome101Feb 20, 2020
Hereditary spastic paraplegia 1068Feb 20, 2020
Hereditary spastic paraplegia 11152Feb 20, 2020
Hereditary spastic paraplegia 1215Feb 20, 2020
Hereditary spastic paraplegia 1339Feb 20, 2020
Hereditary spastic paraplegia 15200Feb 20, 2020
Hereditary spastic paraplegia 21Dec 20, 2021
Hereditary spastic paraplegia 30198Feb 20, 2020
Hereditary spastic paraplegia 3167Nov 6, 2023
Hereditary spastic paraplegia 3372Feb 20, 2020
Hereditary spastic paraplegia 3567Feb 20, 2020
Hereditary spastic paraplegia 39118Feb 20, 2020
Hereditary spastic paraplegia 3A43Nov 6, 2023
Hereditary spastic paraplegia 494Feb 20, 2020
Hereditary spastic paraplegia 421Feb 1, 2019
Hereditary spastic paraplegia 48280Feb 20, 2020
Hereditary spastic paraplegia 501Sep 19, 2023
Hereditary spastic paraplegia 5A36Feb 20, 2020
Hereditary spastic paraplegia 6135Feb 20, 2020
Hereditary spastic paraplegia 786Feb 20, 2020
Hereditary spastic paraplegia 873Feb 20, 2020
Hereditary spherocytosis type 1214Jun 29, 2023
Hereditary spherocytosis type 21Aug 9, 2021
Hereditary spherocytosis type 3244Feb 20, 2020
Hereditary spherocytosis type 4121Feb 20, 2020
Hereditary spherocytosis type 547Feb 20, 2020
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1145Feb 20, 2020
Hereditary thrombophilia due to congenital protein C deficiency1Mar 19, 2024
Hereditary von Willebrand disease140Jun 29, 2023
Hereditary xanthinuria type 1176Feb 20, 2020
Hermansky-Pudlak syndrome107Oct 18, 2016
Hermansky-Pudlak syndrome 1104Feb 20, 2020
Hermansky-Pudlak syndrome 268Feb 20, 2020
Hermansky-Pudlak syndrome 389Feb 20, 2020
Hermansky-Pudlak syndrome 4106Feb 20, 2020
Hermansky-Pudlak syndrome 5102Feb 20, 2020
Hermansky-Pudlak syndrome 651Feb 20, 2020
Hermansky-Pudlak syndrome 72Feb 1, 2019
Heterotaxy, visceral, 1, X-linked27Feb 20, 2020
Heterotaxy, visceral, 4, autosomal218Feb 20, 2020
Heterotaxy, visceral, 5, autosomal47Feb 20, 2020
Hidrotic ectodermal dysplasia syndrome53Feb 20, 2020
Hirschsprung Disease, Dominant43Oct 18, 2016
Hirschsprung Disease, Recessive3Oct 18, 2016
Hirschsprung disease, susceptibility to, 1127Feb 20, 2020
Hirschsprung disease, susceptibility to, 273Feb 20, 2020
Hirschsprung disease, susceptibility to, 380Feb 20, 2020
Hirschsprung disease, susceptibility to, 465Feb 20, 2020
Histidinemia113Feb 20, 2020
Histiocytic medullary reticulosis258Feb 20, 2020
Holocarboxylase synthetase deficiency145Jul 29, 2024
Holoprosencephaly 11208Feb 20, 2020
Holoprosencephaly 21Dec 14, 2020
Holoprosencephaly 32Mar 19, 2024
Holoprosencephaly 49Feb 20, 2020
Holoprosencephaly 7182Feb 20, 2020
Holoprosencephaly 9140Feb 20, 2020
Holoprosencephaly sequence202Mar 19, 2024
Holoprosencephaly spectrum disorder1Jun 1, 2022
Holoprosencephaly-hypokinesia-congenital contractures syndrome1Mar 19, 2024
Holt-Oram syndrome102Dec 14, 2020
Homocystinuria4Oct 18, 2016
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Jul 16, 2020
Houge-Janssens syndrome 22Jun 1, 2022
Hoyeraal-Hreidarsson syndrome1Mar 19, 2024
Human HOXA1 syndromes26Feb 20, 2020
Hutchinson-Gilford syndrome69Feb 20, 2020
Hyaline fibromatosis syndrome146Feb 20, 2020
Hydatidiform mole, recurrent, 1107Feb 20, 2020
Hydrolethalus syndrome12Oct 18, 2016
Hyper-IgE recurrent infection syndrome 1, autosomal dominant66Feb 20, 2020
Hyper-IgE syndrome18Oct 18, 2016
Hyper-IgM syndrome type 256Feb 20, 2020
Hyper-IgM syndrome type 331Feb 20, 2020
Hyper-IgM syndrome type 554Feb 20, 2020
Hyperalphalipoproteinemia 154Feb 20, 2020
Hyperammonemia, type III35Feb 20, 2020
Hypercalcemia, infantile, 193Sep 8, 2024
Hypercholanemia, familial6Oct 18, 2016
Hypercholanemia, familial 181Feb 20, 2020
Hypercholesterolemia, autosomal dominant, 3108Feb 20, 2020
Hypercholesterolemia, autosomal dominant, type B289Jun 30, 2023
Hypercholesterolemia, familial, 1265Nov 6, 2023
Hypercholesterolemia, familial, 484Feb 20, 2020
Hyperekplexia69Oct 18, 2016
Hyperekplexia 139Aug 9, 2021
Hyperekplexia 260Feb 20, 2020
Hyperekplexia 36Feb 20, 2020
Hyperglycinuria160Feb 20, 2020
Hypergonadotropic hypogonadism34Oct 18, 2016
Hyperimmunoglobulin D with periodic fever60Feb 20, 2020
Hyperimmunoglobulin M syndrome14Oct 18, 2016
Hyperinsulinemic hypoglycemia, familial, 1118Dec 20, 2021
Hyperinsulinemic hypoglycemia, familial, 265Feb 20, 2020
Hyperinsulinemic hypoglycemia, familial, 443Feb 20, 2020
Hyperinsulinism due to glucokinase deficiency58Feb 20, 2020
Hyperinsulinism, Dominant42Oct 18, 2016
Hyperinsulinism, Dominant/Recessive20Oct 18, 2016
Hyperinsulinism-hyperammonemia syndrome49Nov 6, 2023
Hyperlipidemia due to hepatic triglyceride lipase deficiency55Feb 20, 2020
Hyperlipoproteinemia, type I110Feb 20, 2020
Hypermanganesemia with dystonia, polycythemia, and cirrhosis44Feb 20, 2020
Hypermethioninemia3Oct 18, 2016
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase40Feb 20, 2020
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome101Feb 20, 2020
Hyperparathyroidism55Feb 20, 2020
Hyperparathyroidism 197Feb 20, 2020
Hyperparathyroidism 2 with jaw tumors105Feb 20, 2020
Hyperphosphatasemia with bone disease56Mar 19, 2024
Hyperphosphatasia with intellectual disability syndrome 146Feb 20, 2020
Hyperphosphatasia with intellectual disability syndrome 267Dec 14, 2020
Hyperphosphatasia-intellectual disability syndrome2Oct 18, 2016
Hyperprolinemia7Oct 18, 2016
Hyperprolinemia type 2107Feb 20, 2020
Hyperthyroxinemia, dysalbuminemic1Oct 18, 2016
Hyperthyroxinemia, familial dysalbuminemic53Feb 20, 2020
Hypertrichotic osteochondrodysplasia Cantu type67Dec 14, 2020
Hypertrophic cardiomyopathy297Oct 18, 2016
Hypertrophic cardiomyopathy 1127Nov 6, 2023
Hypertrophic cardiomyopathy 1023Feb 20, 2020
Hypertrophic cardiomyopathy 1178Feb 20, 2020
Hypertrophic cardiomyopathy 1231Feb 20, 2020
Hypertrophic cardiomyopathy 1311Feb 20, 2020
Hypertrophic cardiomyopathy 223Feb 20, 2020
Hypertrophic cardiomyopathy 2519Feb 20, 2020
Hypertrophic cardiomyopathy 329Feb 20, 2020
Hypertrophic cardiomyopathy 4114May 28, 2024
Hypertrophic cardiomyopathy 679Feb 20, 2020
Hypertrophic cardiomyopathy 730Nov 6, 2023
Hypertrophic cardiomyopathy 816Feb 20, 2020
Hypertrophic osteoarthropathy, primary, autosomal recessive, 167Feb 20, 2020
Hypertyrosinemia13Oct 18, 2016
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome59Feb 20, 2020
Hypoalphalipoproteinemia, primary, 1255Feb 20, 2020
Hypobetalipoproteinemia102Feb 20, 2020
Hypocalcemia3Oct 18, 2016
Hypogonadism with anosmia25Oct 18, 2016
Hypogonadotropic hypogonadism 11 with or without anosmia38Feb 20, 2020
Hypogonadotropic hypogonadism 12 with or without anosmia17Feb 20, 2020
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 19, 2024
Hypogonadotropic hypogonadism 2 with or without anosmia137Feb 20, 2020
Hypogonadotropic hypogonadism 24 without anosmia25Feb 20, 2020
Hypogonadotropic hypogonadism 27 without anosmia1Dec 13, 2022
Hypogonadotropic hypogonadism 3 with or without anosmia35Feb 20, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia202Feb 20, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia100Feb 20, 2020
Hypogonadotropic hypogonadism 8 with or without anosmia1Mar 19, 2024
Hypohidrotic Ectodermal Dysplasia, Dominant52Feb 20, 2020
Hypohidrotic Ectodermal Dysplasia, Recessive45Oct 18, 2016
Hypohidrotic ectodermal dysplasia161Feb 20, 2020
Hypokalemic periodic paralysis29Oct 18, 2016
Hypokalemic periodic paralysis, type 1194Feb 20, 2020
Hypokalemic periodic paralysis, type 2199Feb 20, 2020
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism64Feb 20, 2020
Hypomyelinating leukodystrophy 111Feb 1, 2019
Hypomyelinating leukodystrophy 642Mar 19, 2024
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism70Feb 20, 2020
Hypomyelination and Congenital Cataract130Aug 9, 2021
Hypoparathyroidism, deafness, renal disease syndrome79Feb 20, 2020
Hypoparathyroidism-retardation-dysmorphism syndrome59Feb 20, 2020
Hypophosphatasia71Dec 13, 2022
Hypophosphatemic Rickets, Dominant7Oct 18, 2016
Hypophosphatemic Rickets, Recessive24Oct 18, 2016
Hypophosphatemic nephrolithiasis/osteoporosis 159Feb 20, 2020
Hypophosphatemic rickets, autosomal recessive, 162Feb 20, 2020
Hypophosphatemic rickets, autosomal recessive, 2170Feb 20, 2020
Hypoplasia of the iris61Feb 20, 2020
Hypoplastic left heart syndrome 163Feb 20, 2020
Hypothyroidism due to TSH receptor mutations89Feb 20, 2020
Hypothyroidism, congenital, nongoitrous, 295Mar 19, 2024
Hypotonia with lactic acidemia and hyperammonemia20Feb 20, 2020
Hypotonia, ataxia, and delayed development syndrome1Jun 29, 2023
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Mar 19, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 23Nov 6, 2023
Hypotrichosis 6100Feb 20, 2020
Hypouricemia, renal, 264Feb 20, 2020
IFIH1-related interferonopathy1Nov 15, 2023
IMAGe syndrome1Dec 14, 2020
IMPDH1-related disorder1Feb 1, 2019
IQSEC2-related X-linked neurodevelopmental disorder1Aug 9, 2021
ITPR1-related syndromic and non-syndromic hereditary ataxias3Dec 13, 2022
Ichthyosis bullosa of Siemens71Feb 20, 2020
Ichthyosis vulgaris2Nov 6, 2023
Ichthyosis, hystrix-like, with hearing loss62Feb 20, 2020
Idiopathic basal ganglia calcification 184Feb 20, 2020
Idiopathic hypereosinophilic syndrome135Feb 20, 2020
Imerslund-Grasbeck syndrome6Feb 1, 2019
Imerslund-Grasbeck syndrome type 1333Sep 8, 2024
Immunodeficiency 104108Feb 20, 2020
Immunodeficiency 1832Feb 20, 2020
Immunodeficiency 1913Feb 20, 2020
Immunodeficiency 27A57Feb 20, 2020
Immunodeficiency 35125Feb 20, 2020
Immunodeficiency 471Mar 19, 2024
Immunodeficiency 51193Feb 20, 2020
Immunodeficiency 601Dec 14, 2020
Immunodeficiency 6784Feb 20, 2020
Immunodeficiency due to CD25 deficiency92Feb 20, 2020
Immunodeficiency due to MASP-2 deficiency81Feb 20, 2020
Immunodeficiency due to defect in CD3-gamma4Oct 18, 2016
Immunodeficiency, common variable, 152Feb 20, 2020
Immunodeficiency, common variable, 121Dec 16, 2021
Immunodeficiency, common variable, 340Feb 20, 2020
Immunodeficiency, common variable, 425Feb 20, 2020
Immunodeficiency-centromeric instability-facial anomalies syndrome 1114Feb 20, 2020
Inclusion Body Myopathy, Dominant46Oct 18, 2016
Inclusion Body Myopathy, Recessive63Oct 18, 2016
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 150Feb 20, 2020
Infantile Nystagmus1Oct 18, 2016
Infantile convulsions and choreoathetosis1Nov 6, 2023
Infantile cortical hyperostosis157Feb 20, 2020
Infantile hypercalcemia6Oct 18, 2016
Infantile nephronophthisis67Feb 20, 2020
Infantile neuroaxonal dystrophy3Dec 14, 2020
Infantile onset spinocerebellar ataxia70Feb 20, 2020
Infantile-onset X-linked spinal muscular atrophy35Feb 20, 2020
Infertility associated with multi-tailed spermatozoa and excessive DNA25Feb 20, 2020
Inflammatory bowel disease5Oct 18, 2016
Inflammatory bowel disease 1125Feb 20, 2020
Inflammatory bowel disease 2532Feb 20, 2020
Inflammatory bowel disease 2894Feb 20, 2020
Inherited Erythromelalgia86Oct 18, 2016
Inherited glutathione synthetase deficiency38Feb 20, 2020
Inherited obesity1Dec 16, 2021
Inherited prion disease54Feb 20, 2020
Insulin-resistant diabetes mellitus AND acanthosis nigricans242Feb 20, 2020
Intellectual Disability with Language Impairment and Autistic Features49Oct 18, 2016
Intellectual Disability, Dominant20Oct 18, 2016
Intellectual Disability, Recessive95Oct 18, 2016
Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations19Oct 18, 2016
Intellectual developmental disorder 611Mar 19, 2024
Intellectual developmental disorder 622Nov 15, 2023
Intellectual developmental disorder with autism and macrocephaly1Jul 16, 2020
Intellectual developmental disorder with autistic features and language delay, with or without seizures2Mar 19, 2024
Intellectual developmental disorder with dysmorphic facies and ptosis1Dec 14, 2020
Intellectual developmental disorder with seizures and language delay2Apr 12, 2024
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Jul 14, 2023
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Dec 20, 2021
Intellectual developmental disorder, autosomal dominant 651Jun 1, 2022
Intellectual disability, X-linked 1025Mar 19, 2024
Intellectual disability, X-linked 1042Mar 19, 2024
Intellectual disability, X-linked 1061Nov 15, 2023
Intellectual disability, X-linked 1071Mar 19, 2024
Intellectual disability, X-linked 2124Feb 20, 2020
Intellectual disability, X-linked 3020Feb 20, 2020
Intellectual disability, X-linked 491Dec 20, 2021
Intellectual disability, X-linked 7226Feb 20, 2020
Intellectual disability, X-linked 9395Mar 19, 2024
Intellectual disability, X-linked 961Mar 19, 2024
Intellectual disability, X-linked 9729Feb 20, 2020
Intellectual disability, X-linked 991Nov 15, 2023
Intellectual disability, X-linked syndromic, Turner type5Mar 19, 2024
Intellectual disability, X-linked, syndromic 332Nov 15, 2023
Intellectual disability, X-linked, with or without seizures, arx-related1Dec 14, 2020
Intellectual disability, autosomal dominant 143Dec 14, 2020
Intellectual disability, autosomal dominant 164Mar 19, 2024
Intellectual disability, autosomal dominant 201Jun 29, 2023
Intellectual disability, autosomal dominant 421Jun 29, 2023
Intellectual disability, autosomal dominant 431Mar 19, 2024
Intellectual disability, autosomal dominant 501Mar 19, 2024
Intellectual disability, autosomal dominant 521Jun 29, 2023
Intellectual disability, autosomal dominant 541Dec 20, 2021
Intellectual disability, autosomal dominant 562Dec 16, 2021
Intellectual disability, autosomal dominant 573Nov 15, 2023
Intellectual disability, autosomal dominant 62Mar 19, 2024
Intellectual disability, autosomal dominant 81Mar 19, 2024
Intellectual disability, autosomal recessive 193Feb 20, 2020
Intellectual disability, autosomal recessive 1313Feb 20, 2020
Intellectual disability, autosomal recessive 565Feb 20, 2020
Intellectual disability, autosomal recessive 581Nov 6, 2023
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome2Mar 15, 2024
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome4Sep 19, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Mar 19, 2024
Interfrontal craniofaciosynostosis1Oct 18, 2016
Interstitial lung disease 248Feb 20, 2020
Interstitial lung disease due to ABCA3 deficiency200Feb 20, 2020
Intestinal hypomagnesemia 1147Feb 20, 2020
Intrinsic cardiomyopathy1Nov 6, 2023
Iodotyrosyl coupling defect261Feb 20, 2020
Irido-corneo-trabecular dysgenesis196Feb 20, 2020
Iron Overload19Oct 18, 2016
Isolated GnRH Deficiency20Oct 18, 2016
Isolated Hyperparathyroidism8Oct 18, 2016
Isolated Nonsyndromic Congenital Heart Disease144Feb 20, 2020
Isolated congenital digital clubbing67Feb 20, 2020
Isolated congenital growth hormone deficiency6Oct 18, 2016
Isolated coronal synostosis99Feb 20, 2020
Isolated focal cortical dysplasia type II266Feb 20, 2020
Isolated focal non-epidermolytic palmoplantar keratoderma192Feb 20, 2020
Isolated growth hormone deficiency type IB52Feb 20, 2020
Isolated microphthalmia 277Feb 20, 2020
Isolated microphthalmia 378Feb 20, 2020
Isolated microphthalmia 587Sep 8, 2024
Isolated microphthalmia 625Oct 18, 2016
Isolated thyroid-stimulating hormone deficiency5Feb 20, 2020
Isovaleryl-CoA dehydrogenase deficiency96Jul 29, 2024
Jackson-Weiss syndrome6Oct 18, 2016
Jalili syndrome85Feb 20, 2020
Jawad syndrome1Oct 18, 2016
Jervell and Lange-Nielsen syndrome38Oct 18, 2016
Jervell and Lange-Nielsen syndrome 199Feb 20, 2020
Jervell and Lange-Nielsen syndrome 293Feb 20, 2020
Jeune thoracic dystrophy118Oct 18, 2016
Johanson-Blizzard syndrome2Dec 20, 2021
Joubert syndrome 175Feb 20, 2020
Joubert syndrome 1335Feb 20, 2020
Joubert syndrome 14103Feb 20, 2020
Joubert syndrome 15127Feb 20, 2020
Joubert syndrome 1627Feb 20, 2020
Joubert syndrome 17191Feb 20, 2020
Joubert syndrome 235Feb 20, 2020
Joubert syndrome 2474Feb 20, 2020
Joubert syndrome 3114Feb 20, 2020
Joubert syndrome 5130Feb 20, 2020
Joubert syndrome 661Feb 20, 2020
Joubert syndrome 7125Feb 20, 2020
Joubert syndrome 81Feb 1, 2019
Joubert syndrome 9109Feb 20, 2020
Joubert syndrome with renal defect46Feb 20, 2020
Joubert-orofaciodigital syndrome1Aug 9, 2021
Junctional epidermolysis bullosa317Feb 20, 2020
Junctional epidermolysis bullosa gravis of Herlitz122Feb 20, 2020
Junctional epidermolysis bullosa with pyloric atresia310Feb 20, 2020
Junctional epidermolysis bullosa, non-Herlitz type163Feb 20, 2020
Juvenile Polyposis45Oct 18, 2016
Juvenile hemochromatosis3Oct 18, 2016
Juvenile myoclonic epilepsy183Feb 1, 2019
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome172Feb 20, 2020
Juvenile-onset Parkinson disease6Oct 18, 2016
KAT6B-Related Spectrum Disorders6Oct 18, 2016
KBG syndrome4Mar 19, 2024
KCNA1-related disorder1Dec 16, 2021
KCNE2-related disorder2Feb 1, 2019
KCNH1-related disorder1Apr 1, 2020
KCNJ10-related disorder1Feb 1, 2019
KCNJ11-related disorder1Feb 1, 2019
KCNQ1-related disorder2Feb 1, 2019
KCNQ2-related disorder5Mar 19, 2024
KDM5C-related X-linked syndromic intellectual disability1Aug 9, 2021
KDM6B-related neurodevelopmental disorder1Aug 9, 2021
KIF1A-related disorder1Dec 14, 2020
KIF3C-related neurodevelopmental disorder1Nov 15, 2023
KIF5A-related amyotrophic lateral sclerosis1Jun 1, 2022
KIF5A-related intractable neonatal myoclonus1Dec 13, 2022
KIF7-related ciliopathy spectrum disorder2Jul 16, 2020
KMT2B-related disorder1Dec 16, 2021
KMT2C-related disorder3Dec 14, 2020
KMT2D-related disorder1Mar 15, 2024
KMT5B-related neurodevelopmental disorder1Jul 16, 2020
Kabuki Syndrome - KDM6A1Jul 16, 2020
Kabuki syndrome10Oct 18, 2016
Kabuki syndrome 19Mar 19, 2024
Kartagener syndrome48Feb 20, 2020
Keratitis ichthyosis and deafness syndrome2Oct 18, 2016
Keratoconus1Oct 18, 2016
Keratosis follicularis87Feb 20, 2020
Keutel syndrome33Feb 20, 2020
Kindler syndrome157Feb 20, 2020
Kleefstra syndrome 15Oct 18, 2016
Kleefstra syndrome 21Mar 19, 2024
Klippel-Feil syndrome12Oct 18, 2016
Klippel-Feil syndrome 1, autosomal dominant79Feb 20, 2020
Knobloch syndrome206Feb 20, 2020
Koolen-de Vries syndrome1Apr 1, 2020
Kostmann syndrome22Feb 20, 2020
Krabbe disease due to saposin A deficiency68Feb 20, 2020
Kufor-Rakeb syndrome115Feb 20, 2020
LAMA3-related disorder1Sep 8, 2024
LAMB2-related infantile-onset nephrotic syndrome116Feb 20, 2020
LARGE-related disorder1Feb 1, 2019
LCAT deficiency24Feb 20, 2020
LEOPARD syndrome 183Feb 20, 2020
LEOPARD syndrome 263Feb 20, 2020
LEOPARD syndrome 338Feb 20, 2020
LEPR-related disorder2Feb 1, 2019
LIG4-related disorder2Feb 1, 2019
LIPA-related disorder2Feb 1, 2019
LMNA-related disorder1Feb 1, 2019
LTBP2-related disorder1Feb 1, 2019
Lactose intolerance61Oct 18, 2016
Lafora disease47Feb 20, 2020
Landau-Kleffner syndrome290Dec 14, 2020
Langer-Giedion syndrome2Oct 18, 2016
Laron-type isolated somatotropin defect94Feb 20, 2020
Larsen syndrome143Oct 18, 2016
Laryngo-onycho-cutaneous syndrome125Feb 20, 2020
Late-onset retinal degeneration87Feb 20, 2020
Lathosterolosis128Feb 20, 2020
Leber congenital amaurosis100Oct 18, 2016
Leber congenital amaurosis 10130Feb 20, 2020
Leber congenital amaurosis 1174Feb 20, 2020
Leber congenital amaurosis 12104Feb 20, 2020
Leber congenital amaurosis 1478Feb 20, 2020
Leber congenital amaurosis 1542Feb 20, 2020
Leber congenital amaurosis 1650Feb 20, 2020
Leber congenital amaurosis 266Dec 14, 2020
Leber congenital amaurosis 349Feb 20, 2020
Leber congenital amaurosis 496Feb 20, 2020
Leber congenital amaurosis 5100Feb 20, 2020
Leber congenital amaurosis 684Feb 20, 2020
Leber congenital amaurosis 7129Feb 20, 2020
Leber congenital amaurosis 869Feb 20, 2020
Left ventricular noncompaction 10102Dec 20, 2021
Left ventricular noncompaction 81Mar 19, 2024
Left ventricular noncompaction cardiomyopathy200Oct 18, 2016
Left-right axis malformations41Feb 20, 2020
Legius syndrome135Feb 20, 2020
Leigh syndrome843Dec 14, 2020
Leprechaunism syndrome243Feb 20, 2020
Lessel-Kreienkamp syndrome2Sep 19, 2023
Lethal Encephalopathy27Oct 18, 2016
Lethal Kniest-like syndrome463Feb 20, 2020
Lethal acantholytic epidermolysis bullosa196Feb 20, 2020
Lethal arthrogryposis-anterior horn cell disease syndrome57Feb 20, 2020
Lethal congenital contracture syndrome1Oct 18, 2016
Lethal congenital contracture syndrome 156Feb 20, 2020
Lethal congenital glycogen storage disease of heart23Oct 18, 2016
Lethal multiple pterygium syndrome185Feb 20, 2020
Lethal polymalformative syndrome, Boissel type112Feb 20, 2020
Lethal tight skin contracture syndrome103Feb 20, 2020
Leukocyte adhesion deficiency3Oct 18, 2016
Leukocyte adhesion deficiency 1127Sep 8, 2024
Leukocyte adhesion deficiency type II74Feb 20, 2020
Leukodystrophy and acquired microcephaly with or without dystonia;2Mar 19, 2024
Leukodystrophy, Adult-Onset15Oct 18, 2016
Leukodystrophy, hypomyelinating, 171Mar 15, 2024
Leukodystrophy, hypomyelinating, 182Mar 19, 2024
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome44Feb 20, 2020
Leukoencephalopathy with calcifications and cysts5Nov 15, 2023
Leukoencephalopathy with vanishing white matter 51Nov 15, 2023
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome1Dec 20, 2021
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome163Feb 20, 2020
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome79Feb 20, 2020
Levy-Hollister syndrome8Oct 18, 2016
Leydig cell agenesis62Feb 20, 2020
Li-Fraumeni syndrome21Oct 18, 2016
Li-Fraumeni syndrome 147Jun 29, 2023
Li-Fraumeni syndrome 21Nov 6, 2023
Liddle syndrome 166Dec 14, 2020
Liddle syndrome 266Feb 20, 2020
Limb-Girdle Muscular Dystrophy, Dominant73Oct 18, 2016
Limb-girdle muscular dystrophy, recessive534Oct 18, 2016
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules53Feb 20, 2020
Lissencephaly 101Dec 20, 2021
Lissencephaly 4124Feb 20, 2020
Lissencephaly 6 with microcephaly1Dec 16, 2021
Lissencephaly type 1 due to doublecortin gene mutation1Jul 14, 2023
Lissencephaly, Recessive105Oct 18, 2016
Lissencephaly/Subcortical Band Heterotopia12Oct 18, 2016
Loeys-Dietz syndrome310Oct 18, 2016
Loeys-Dietz syndrome 1152Feb 20, 2020
Loeys-Dietz syndrome 259Feb 20, 2020
Loeys-Dietz syndrome 4109Feb 20, 2020
Loeys-Dietz syndrome 61Dec 13, 2022
Long QT syndrome118Feb 1, 2019
Long QT syndrome 1103Nov 6, 2023
Long QT syndrome 1259Feb 20, 2020
Long QT syndrome 293Mar 19, 2024
Long QT syndrome 3180Feb 20, 2020
Long QT syndrome 591Feb 20, 2020
Long QT syndrome 617Feb 20, 2020
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency66Feb 20, 2020
Low phospholipid associated cholelithiasis3Feb 1, 2019
Lowe syndrome1Mar 19, 2024
Lucey-Driscoll syndrome41Feb 20, 2020
Lung carcinoma1Oct 18, 2016
Lymphoproliferative disorder23Oct 18, 2016
Lymphoproliferative syndrome 185Feb 20, 2020
Lynch syndrome46Oct 18, 2016
Lynch syndrome 191Feb 20, 2020
Lynch syndrome 477Jun 29, 2023
Lynch syndrome 580Feb 20, 2020
Lysinuric protein intolerance61Feb 20, 2020
Lysosomal acid lipase deficiency53Feb 20, 2020
MAN1B1-related disorder1Apr 5, 2019
MAP2K1-related RASopathy1Apr 1, 2020
MAP2K1-related disorder1Feb 1, 2019
MAPT-Related Spectrum Disorders171Feb 20, 2020
MASS syndrome41Oct 18, 2016
MECP2-related disorder2Apr 12, 2024
MED12-related intellectual disability syndrome2Nov 15, 2023
MED12L-related neurodevelopmental disorder2Dec 13, 2022
MED13-related neurodevelopmental disorder1Apr 1, 2020
MED13L-related neurodevelopmental disorder3Aug 9, 2021
MEF2C-related complex neurodevelopmental disorder1Apr 1, 2020
MEGF10-related myopathy201Feb 20, 2020
MFN2-related disorder1Feb 1, 2019
MGAT2-congenital disorder of glycosylation56Feb 20, 2020
MHC class II deficiency285Feb 20, 2020
MHC class II deficiency 11Sep 8, 2024
MKKS-related disorder1Feb 1, 2019
MKS1-related disorder3Feb 1, 2019
MMP13-related disorder2Feb 1, 2019
MORC2-related neurodevelopmental disorders1Dec 20, 2021
MPDU1-congenital disorder of glycosylation28Feb 20, 2020
MPI-congenital disorder of glycosylation49Feb 20, 2020
MPL-related disorder5Feb 1, 2019
MPV17-related disorder1Feb 1, 2019
MPZ-related disorder1Feb 1, 2019
MSX1-related selective tooth agenesis with or without orofacial cleft1Jun 1, 2022
MT-ATP6-related primary mitochondrial disease1Dec 13, 2022
MVK-related disorder2Sep 8, 2024
MYBPC3-related disorder5Feb 20, 2020
MYH3-related disorder5Nov 15, 2023
MYH6-related disorder1Feb 1, 2019
MYH7-related disorder4Dec 20, 2021
MYH7-related skeletal myopathy139Feb 20, 2020
MYH9-related disorder208Feb 20, 2020
MYO7A-related disorder11Jul 16, 2020
MYOC-related disorder4Feb 1, 2019
Macrocephaly, acquired, with impaired intellectual development1Dec 14, 2020
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Aug 9, 2021
Macrothrombocytopenia, isolated, 1, autosomal dominant1Dec 16, 2021
Macular corneal dystrophy193Feb 20, 2020
Macular degeneration304Feb 20, 2020
Macular degeneration, age-related, 354Feb 20, 2020
Macular dystrophy, retinal5Oct 18, 2016
Majeed syndrome195Feb 20, 2020
Malan overgrowth syndrome1Dec 14, 2020
Male infertility4Oct 18, 2016
Malignant Melanoma Susceptibility6Oct 18, 2016
Malignant hyperthermia of anesthesia81Oct 18, 2016
Malignant hyperthermia, susceptibility to, 1410Dec 14, 2020
Mandibuloacral dysplasia17Oct 18, 2016
Mandibuloacral dysplasia with type A lipodystrophy44Feb 20, 2020
Mandibuloacral dysplasia with type B lipodystrophy42Feb 20, 2020
Mandibulofacial dysostosis-microcephaly syndrome3Mar 19, 2024
Mannose-binding lectin deficiency86Feb 20, 2020
Maple syrup urine disease313Feb 20, 2020
Maple syrup urine disease type 1A1Apr 25, 2024
Marfan syndrome322Mar 19, 2024
Marinesco-Sjögren syndrome48Feb 20, 2020
Marshall syndrome15Oct 18, 2016
Marshall-Smith syndrome1Dec 14, 2020
Martsolf syndrome139Feb 20, 2020
Mast syndrome31Feb 20, 2020
Mastocytosis87Feb 20, 2020
Matthew-Wood syndrome74Feb 20, 2020
Maturity onset diabetes mellitus in young124Oct 18, 2016
Maturity-onset diabetes of the young type 1114Feb 20, 2020
Maturity-onset diabetes of the young type 1018Feb 20, 2020
Maturity-onset diabetes of the young type 1185Feb 20, 2020
Maturity-onset diabetes of the young type 1365Feb 20, 2020
Maturity-onset diabetes of the young type 258Feb 20, 2020
Maturity-onset diabetes of the young type 370Dec 13, 2022
Maturity-onset diabetes of the young type 649Feb 20, 2020
Maturity-onset diabetes of the young type 7100Feb 20, 2020
McKusick-Kaufman syndrome60Feb 20, 2020
Meacham syndrome113Feb 20, 2020
Meckel syndrome, type 157Feb 20, 2020
Meckel syndrome, type 235Feb 20, 2020
Meckel syndrome, type 363Feb 20, 2020
Meckel syndrome, type 4130Feb 20, 2020
Meckel syndrome, type 5126Feb 20, 2020
Meckel syndrome, type 6110Feb 20, 2020
Meckel syndrome, type 874Feb 20, 2020
Meckel syndrome, type 916Feb 20, 2020
Meckel-Gruber syndrome45Oct 18, 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency52Aug 9, 2021
Medulloblastoma93Feb 20, 2020
Meester-Loeys syndrome1Mar 19, 2024
Megaconial type congenital muscular dystrophy41Feb 20, 2020
Megalencephalic leukoencephalopathy with subcortical cysts92Feb 20, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 1115Feb 20, 2020
Megalencephaly-capillary malformation-polymicrogyria syndrome1Jun 29, 2023
Megaloblastic anemia6Oct 18, 2016
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness67Feb 20, 2020
Meier-Gorlin syndrome19Oct 18, 2016
Meier-Gorlin syndrome 156Mar 19, 2024
Meier-Gorlin syndrome 336Feb 20, 2020
Meier-Gorlin syndrome 533Feb 20, 2020
Melanoma, cutaneous malignant, susceptibility to, 335Feb 20, 2020
Melanoma, cutaneous malignant, susceptibility to, 5154Feb 20, 2020
Melanoma, cutaneous malignant, susceptibility to, 81Mar 19, 2024
Melanoma-pancreatic cancer syndrome1Mar 19, 2024
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency45Feb 20, 2020
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency74Feb 20, 2020
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency92Feb 20, 2020
Menkes kinky-hair syndrome1Dec 20, 2021
Mesangiocapillary glomerulonephritis, type II4Oct 18, 2016
Metachondromatosis91Feb 20, 2020
Metachromatic leukodystrophy172Feb 20, 2020
Metaphyseal anadysplasia53Feb 20, 2020
Metaphyseal anadysplasia 253Feb 20, 2020
Metaphyseal chondrodysplasia10Oct 18, 2016
Metaphyseal chondrodysplasia, Jansen type46Feb 20, 2020
Metaphyseal chondrodysplasia, Schmid type77Feb 20, 2020
Metatropic dysplasia106Feb 20, 2020
Methylcrotonyl-CoA carboxylase deficiency9Oct 18, 2016
Methylmalonate semialdehyde dehydrogenase deficiency96Feb 20, 2020
Methylmalonic acidemia52Oct 18, 2016
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency20Feb 20, 2020
Methylmalonic acidemia with homocystinuria, type cblX1Dec 16, 2021
Methylmalonic aciduria and homocystinuria type cblD35Feb 20, 2020
Methylmalonic aciduria and homocystinuria type cblF39Feb 20, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency75Jun 29, 2023
Methylmalonic aciduria, cblA type121Feb 20, 2020
Methylmalonic aciduria, cblB type109Feb 20, 2020
Mevalonic aciduria59Feb 20, 2020
Microcephalic osteodysplastic primordial dwarfism8Oct 18, 2016
Microcephalic osteodysplastic primordial dwarfism type II383Feb 20, 2020
Microcephaly 1, primary, autosomal recessive115Feb 20, 2020
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations120Mar 19, 2024
Microcephaly 20, primary, autosomal recessive2Sep 19, 2023
Microcephaly 3, primary, autosomal recessive94Feb 20, 2020
Microcephaly 4, primary, autosomal recessive96Feb 20, 2020
Microcephaly 5, primary, autosomal recessive242Apr 25, 2024
Microcephaly 6, primary, autosomal recessive104Feb 20, 2020
Microcephaly 7, primary, autosomal recessive78Feb 20, 2020
Microcephaly 9, primary, autosomal recessive100Feb 20, 2020
Microcephaly and chorioretinopathy 12Nov 6, 2023
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)1Dec 14, 2020
Microcephaly, cortical malformations, and intellectual disability3Oct 18, 2016
Microcephaly, normal intelligence and immunodeficiency95Feb 20, 2020
Microcephaly, seizures, and developmental delay58Feb 20, 2020
Microcephaly, short stature, and limb abnormalities2Jun 29, 2023
Microcytic anemia99Feb 20, 2020
Microcytic anemia with liver iron overload87Feb 20, 2020
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome6Dec 20, 2021
Microphthalmia with brain and digit anomalies18Feb 20, 2020
Microphthalmia, isolated, with coloboma 377Feb 20, 2020
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1Mar 19, 2024
Migraine, familial hemiplegic, 2124Dec 16, 2021
Migraine, familial hemiplegic, 399Feb 20, 2020
Miller syndrome76Feb 20, 2020
Mitochondrial DNA depletion syndrome63Oct 18, 2016
Mitochondrial DNA depletion syndrome 160Feb 20, 2020
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)8Oct 18, 2016
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)27Feb 20, 2020
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)26Feb 20, 2020
Mitochondrial DNA depletion syndrome 8a81Mar 19, 2024
Mitochondrial DNA depletion syndrome 939Feb 20, 2020
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria54Feb 20, 2020
Mitochondrial DNA depletion syndrome, myopathic form91Jul 16, 2020
Mitochondrial complex 1 deficiency, nuclear type 191Jun 11, 2024
Mitochondrial complex 1 deficiency, nuclear type 221Feb 1, 2019
Mitochondrial complex 1 deficiency, nuclear type 311Apr 1, 2020
Mitochondrial complex 1 deficiency, nuclear type 53Apr 5, 2019
Mitochondrial complex I deficiency79Feb 1, 2019
Mitochondrial complex I deficiency, nuclear type 1714Feb 20, 2020
Mitochondrial complex II deficiency, nuclear type 187Feb 20, 2020
Mitochondrial complex III deficiency nuclear type 153Apr 25, 2024
Mitochondrial complex III deficiency nuclear type 270Apr 1, 2020
Mitochondrial complex III deficiency nuclear type 446Feb 20, 2020
Mitochondrial complex IV deficiency, nuclear type 1396Mar 19, 2024
Mitochondrial complex V (ATP synthase) deficiency nuclear type 264Feb 20, 2020
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 134Feb 20, 2020
Mitochondrial disease22Apr 12, 2024
Mitochondrial non-syndromic sensorineural hearing loss1Nov 6, 2023
Mitochondrial proton-transporting ATP synthase complex deficiency1Oct 18, 2016
Mitochondrial trifunctional protein deficiency113Feb 20, 2020
Miyoshi myopathy200Oct 18, 2016
Monogenic Non-Syndromic Obesity129Oct 18, 2016
Mononeuropathy of the Median Nerve64Oct 18, 2016
Morquio syndrome26Oct 18, 2016
Mowat-Wilson syndrome22Mar 19, 2024
Moyamoya disease14Oct 18, 2016
Mucolipidosis type II118Feb 20, 2020
Mucolipidosis type IV70Jun 29, 2023
Mucolipidosis, Type III Alpha/Beta9Oct 18, 2016
Mucopolysaccharidosis type 178Sep 19, 2023
Mucopolysaccharidosis type 6136Feb 20, 2020
Mucopolysaccharidosis type 748Feb 20, 2020
Mucopolysaccharidosis, MPS-II1Nov 6, 2023
Mucopolysaccharidosis, MPS-III-A91Nov 6, 2023
Mucopolysaccharidosis, MPS-III-B47Sep 10, 2024
Mucopolysaccharidosis, MPS-III-C117Jul 29, 2024
Mucopolysaccharidosis, MPS-III-D79Feb 20, 2020
Mucopolysaccharidosis, MPS-IV-A101Feb 20, 2020
Mucopolysaccharidosis, MPS-IV-B50Feb 20, 2020
Mulibrey nanism syndrome88Feb 20, 2020
Mullegama-Klein-Martinez syndrome1Mar 19, 2024
Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders2Oct 18, 2016
Multicentric carpo-tarsal osteolysis with or without nephropathy75Dec 14, 2020
Multicentric osteolysis nodulosis arthropathy spectrum91Feb 20, 2020
Multiminicore myopathy58Oct 18, 2016
Multiple Epiphyseal Dysplasia, Dominant13Oct 18, 2016
Multiple acyl-CoA dehydrogenase deficiency74Sep 8, 2024
Multiple congenital anomalies-hypotonia-seizures syndrome 25Jun 29, 2023
Multiple congenital exostosis50Feb 20, 2020
Multiple cutaneous and mucosal venous malformations98Feb 20, 2020
Multiple endocrine neoplasia172Feb 20, 2020
Multiple endocrine neoplasia type 466Feb 20, 2020
Multiple endocrine neoplasia, type 146Nov 6, 2023
Multiple epiphyseal dysplasia type 162Dec 14, 2020
Multiple epiphyseal dysplasia type 4152Feb 20, 2020
Multiple epiphyseal dysplasia type 557Sep 19, 2023
Multiple mitochondrial dysfunctions syndrome 129Feb 20, 2020
Multiple mitochondrial dysfunctions syndrome 212Feb 20, 2020
Multiple sulfatase deficiency85Feb 20, 2020
Multiple synostoses syndrome 239Feb 20, 2020
Multiple synostoses syndrome 383Feb 20, 2020
Multisystemic smooth muscle dysfunction syndrome31Feb 20, 2020
Muscle AMP deaminase deficiency2Oct 18, 2016
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4116Feb 20, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A699Feb 20, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Mar 19, 2024
Muscular dystrophy-dystroglycanopathy type B699Feb 20, 2020
Mutilating keratoderma2Oct 18, 2016
Myasthenic syndrome, congenital, 221Dec 14, 2020
Myhre syndrome211Feb 20, 2020
Myoclonic dystonia 1125Aug 9, 2021
Myoclonic-astatic epilepsy1Dec 14, 2020
Myofibrillar Myopathy, Dominant114Oct 18, 2016
Myofibrillar myopathy 28Feb 20, 2020
Myofibrillar myopathy 361Feb 20, 2020
Myofibrillar myopathy 439Dec 20, 2021
Myofibrillar myopathy 662Feb 20, 2020
Myofibrillar myopathy 81Mar 19, 2024
Myoglobinuria, acute recurrent, autosomal recessive115Jul 16, 2020
Myokymia53Oct 18, 2016
Myopathy caused by variation in POMT11Jun 29, 2023
Myopathy, centronuclear, 284Feb 20, 2020
Myopathy, congenital, progressive, with scoliosis2Apr 1, 2020
Myopathy, lactic acidosis, and sideroblastic anemia30Oct 18, 2016
Myopathy, lactic acidosis, and sideroblastic anemia 154Feb 20, 2020
Myopathy, lactic acidosis, and sideroblastic anemia 238Feb 20, 2020
Myopathy, myofibrillar, 9, with early respiratory failure1815Jun 29, 2023
Myopathy, proximal, and ophthalmoplegia70Sep 8, 2024
Myopathy, tubular aggregate, 21Nov 15, 2023
Myosclerosis138Feb 20, 2020
Myosin storage myopathy140Feb 20, 2020
Myostatin-related muscle hypertrophy51Feb 20, 2020
NAA15-related disorder1Aug 9, 2021
NAA15-related syndrome1Jul 16, 2020
NAFLD182Feb 20, 2020
NAGA-related disorder2Feb 1, 2019
NARS2-related primary mitochondrial disorder1Dec 16, 2021
NBEA-related complex neurodevelopmental disorder1Dec 20, 2021
NBEA-related intellectual disability2Dec 14, 2020
NDUFAF2-related disorder1Feb 1, 2019
NDUFS3-related disorder1Feb 1, 2019
NDUFV1-related disorder2Feb 1, 2019
NEXN-related disorder2Feb 1, 2019
NODAL-related disorder1Feb 1, 2019
NPHP1-related disorder2Feb 1, 2019
NPHP3-related Meckel-like syndrome86Feb 20, 2020
NPHP4-related disorder3Feb 1, 2019
NR2E3-related disorder4Sep 10, 2024
NR2F2-related congenital heart defects1Dec 14, 2020
NSD2-related neurodevelopmental disorder1Jun 1, 2022
Nager syndrome1Oct 18, 2016
Nail-patella syndrome194Feb 20, 2020
Naxos disease109Feb 20, 2020
Nemaline Myopathy, Dominant11Oct 18, 2016
Nemaline Myopathy, Recessive22Oct 18, 2016
Nemaline myopathy30Oct 18, 2016
Nemaline myopathy 2457Sep 10, 2024
Nemaline myopathy 523Feb 20, 2020
Nemaline myopathy 677Feb 20, 2020
Nemaline myopathy 737Feb 20, 2020
Neonatal diabetes mellitus with congenital hypothyroidism247Feb 20, 2020
Neonatal severe primary hyperparathyroidism62Feb 20, 2020
Nephroblastoma31Oct 18, 2016
Nephrogenic diabetes insipidus2Oct 18, 2016
Nephrolithiasis/osteoporosis, hypophosphatemic14Oct 18, 2016
Nephronophthisis42Oct 18, 2016
Nephronophthisis 146Feb 20, 2020
Nephronophthisis 1161Feb 20, 2020
Nephronophthisis 12120Feb 20, 2020
Nephronophthisis 388Feb 20, 2020
Nephronophthisis 4160Feb 20, 2020
Nephronophthisis 7101Feb 20, 2020
Nephronophthisis 8125Feb 20, 2020
Nephronophthisis 966Feb 20, 2020
Nephronophthisis-Like Nephropathy21Oct 18, 2016
Nephronophthisis-like nephropathy 1144Feb 20, 2020
Nephropathic cystinosis160Feb 20, 2020
Nephrotic syndrome10Oct 18, 2016
Nephrotic syndrome, type 122Mar 19, 2024
Nephrotic syndrome, type 245Dec 14, 2020
Nephrotic syndrome, type 3162Feb 20, 2020
Nephrotic syndrome, type 4113Feb 20, 2020
Nestor-Guillermo progeria syndrome27Feb 20, 2020
Netherton syndrome104Dec 14, 2020
Neural tube defect201Feb 20, 2020
Neural tube defects, folate-sensitive16Oct 18, 2016
Neuroblastoma226Feb 20, 2020
Neuroblastoma Susceptibility7Oct 18, 2016
Neuroblastoma, susceptibility to, 256Feb 20, 2020
Neuroblastoma, susceptibility to, 3160Feb 20, 2020
Neurocirculatory asthenia9Oct 18, 2016
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Aug 9, 2021
Neurodegeneration with brain iron accumulation 4140Apr 1, 2020
Neurodegeneration with brain iron accumulation 53Mar 19, 2024
Neurodegeneration, infantile-onset, biotin-responsive2Nov 15, 2023
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies2Dec 16, 2021
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2Sep 19, 2023
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities1Jun 1, 2022
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures2Mar 19, 2024
Neurodevelopmental disorder with involuntary movements2Mar 19, 2024
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Jul 16, 2020
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment2Mar 15, 2024
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Aug 9, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Nov 15, 2023
Neurodevelopmental disorder with or without autism or seizures1Mar 15, 2024
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA3Sep 19, 2023
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities63Feb 20, 2020
Neurodevelopmental disorder with seizures and speech and walking impairment2Mar 19, 2024
Neurodevelopmental disorder with speech impairment and dysmorphic facies2Mar 19, 2024
Neuroferritinopathy39Feb 20, 2020
Neurofibromatosis, familial spinal160Feb 20, 2020
Neurofibromatosis, type 1170Mar 15, 2024
Neurofibromatosis, type 2180Feb 20, 2020
Neurofibromatosis-Noonan syndrome160Feb 20, 2020
Neurogenic scapuloperoneal syndrome, Kaeser type43Feb 20, 2020
Neurologic Disorders/Seipinopathy1Oct 18, 2016
Neuromuscular disease, congenital, with uniform type 1 fiber317Oct 18, 2016
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive61Oct 18, 2016
Neuronal Ceroid-Lipofuscinosis, Recessive145Oct 18, 2016
Neuronal ceroid lipofuscinosis73Feb 20, 2020
Neuronal ceroid lipofuscinosis 161Feb 20, 2020
Neuronal ceroid lipofuscinosis 1072Feb 20, 2020
Neuronal ceroid lipofuscinosis 270Mar 19, 2024
Neuronal ceroid lipofuscinosis 357Feb 20, 2020
Neuronal ceroid lipofuscinosis 554Feb 20, 2020
Neuronal ceroid lipofuscinosis 777Jun 29, 2023
Neuronopathy, distal hereditary motor, autosomal dominant 8106Feb 20, 2020
Neuronopathy, distal hereditary motor, autosomal recessive 4126Feb 20, 2020
Neuronopathy, distal hereditary motor, type 2A34Feb 20, 2020
Neuronopathy, distal hereditary motor, type 2B28Feb 20, 2020
Neuronopathy, distal hereditary motor, type 2C16Feb 20, 2020
Neuronopathy, distal hereditary motor, type 5A104Feb 20, 2020
Neuronopathy, distal hereditary motor, type 7B82Feb 20, 2020
Neuroocular syndrome1Dec 16, 2021
Neuropathy, congenital hypomyelinating, 230Feb 20, 2020
Neuropathy, hereditary motor and sensory, type 6A1Jun 29, 2023
Neuropathy, hereditary sensory and autonomic, type 1A45Feb 20, 2020
Neuropathy, hereditary sensory and autonomic, type 1C168Feb 20, 2020
Neuropathy, hereditary sensory and autonomic, type 2A1Feb 1, 2019
Neuropathy, hereditary sensory and autonomic, type 2B55Feb 20, 2020
Neutral lipid storage myopathy90Feb 20, 2020
Neutropenia, severe congenital, 2, autosomal dominant1Nov 15, 2023
Newfoundland cone-rod dystrophy51Feb 20, 2020
Nicolaides-Baraitser syndrome125Nov 15, 2023
Niemann-Pick disease, type A69Sep 19, 2023
Niemann-Pick disease, type C14Oct 18, 2016
Niemann-Pick disease, type C1138Sep 19, 2023
Niemann-Pick disease, type C22Feb 1, 2019
Non-acquired combined pituitary hormone deficiency with spine abnormalities69Feb 20, 2020
Non-ketotic hyperglycinemia167Dec 14, 2020
Non-syndromic X-linked intellectual disability47Oct 18, 2016
Nonsyndromic Hearing Loss, Dominant100Oct 18, 2016
Nonsyndromic Hearing Loss, Mixed54Oct 18, 2016
Noonan syndrome137Jul 16, 2020
Noonan syndrome 189Mar 19, 2024
Noonan syndrome 101Sep 19, 2023
Noonan syndrome 32Feb 20, 2020
Noonan syndrome 4134Jun 1, 2022
Noonan syndrome 564Mar 19, 2024
Noonan syndrome 674Feb 20, 2020
Noonan syndrome 739Dec 14, 2020
Noonan syndrome 94Sep 19, 2023
Noonan syndrome with multiple lentigines19Oct 18, 2016
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia1Dec 14, 2020
Noonan syndrome-like disorder with loose anagen hair 160Feb 20, 2020
Noonan syndrome-like disorder with loose anagen hair 21Dec 16, 2021
Noonan-like syndrome31Dec 14, 2020
Norman-Roberts syndrome217Dec 14, 2020
Nystagmus 1, congenital, X-linked40Feb 20, 2020
O'Donnell-Luria-Rodan syndrome1Mar 19, 2024
OFD1-related ciliopathy2Jun 1, 2022
OGT-related X-linked syndromic intellectual disability1Dec 14, 2020
OPA1-related optic atrophy with or without extraocular features1Sep 19, 2023
OPTN-related disorder2Feb 1, 2019
OTX2-Related Syndromic Microphthalmia18Jun 1, 2022
Obesity89Feb 20, 2020
Obesity due to SIM1 deficiency68Feb 20, 2020
Obesity due to congenital leptin deficiency72Feb 20, 2020
Obesity due to leptin receptor gene deficiency74Feb 20, 2020
Obesity due to pro-opiomelanocortin deficiency25Feb 20, 2020
Obesity due to prohormone convertase I deficiency86Feb 20, 2020
Occipital pachygyria and polymicrogyria1Mar 19, 2024
Occult macular dystrophy423Feb 20, 2020
Ocular cystinosis148Feb 20, 2020
Oculocerebrofacial syndrome, Kaufman type2Mar 19, 2024
Oculocutaneous albinism54Feb 20, 2020
Oculocutaneous albinism type 11Mar 19, 2024
Oculocutaneous albinism type 1B1Jul 16, 2020
Oculocutaneous albinism type 373Feb 20, 2020
Oculocutaneous albinism type 444Mar 19, 2024
Oculodentodigital dysplasia65Jun 1, 2022
Oculotrichoanal syndrome281Feb 20, 2020
Odonto-onycho-dermal dysplasia70Feb 20, 2020
Oguchi disease48Feb 20, 2020
Okur-Chung neurodevelopmental syndrome1Jun 29, 2023
Oligodontia-cancer predisposition syndrome117Feb 20, 2020
Olmsted syndrome 118Oct 18, 2016
Omodysplasia7Oct 18, 2016
Optic Atrophy, Dominant27Oct 18, 2016
Optic Atrophy, Recessive3Oct 18, 2016
Optic atrophy 3191Feb 20, 2020
Ornithine aminotransferase deficiency50Feb 20, 2020
Ornithine carbamoyltransferase deficiency19Dec 20, 2021
Orofacial cleft14Oct 18, 2016
Orofacial cleft 1014Feb 20, 2020
Orofacial cleft 1130Feb 20, 2020
Orofacial cleft 6, susceptibility to72Feb 20, 2020
Orofacial cleft 892Feb 20, 2020
Orofaciodigital syndrome IX2Mar 15, 2024
Oroticaciduria183Feb 20, 2020
Orthostatic hypotension 1129Feb 20, 2020
Osteochondritis dissecans1Aug 9, 2021
Osteogenesis Imperfecta, Dominant26Oct 18, 2016
Osteogenesis Imperfecta, Recessive98Feb 20, 2020
Osteogenesis imperfecta252Dec 16, 2021
Osteogenesis imperfecta type 1060Feb 20, 2020
Osteogenesis imperfecta type 1170Mar 19, 2024
Osteogenesis imperfecta type 1379Feb 20, 2020
Osteogenesis imperfecta type 51Nov 6, 2023
Osteogenesis imperfecta type 641Feb 20, 2020
Osteogenesis imperfecta type 7175Jun 11, 2024
Osteogenesis imperfecta type 836Feb 20, 2020
Osteogenesis imperfecta type 935Feb 20, 2020
Osteoglophonic dysplasia138Feb 20, 2020
Osteopathia striata with cranial sclerosis1Mar 19, 2024
Osteopetrosis184Feb 20, 2020
Osteopetrosis with renal tubular acidosis30Feb 20, 2020
Oto-palato-digital syndrome, type II1Nov 15, 2023
Otofaciocervical syndrome 1110Feb 20, 2020
Otospondylomegaepiphyseal dysplasia, autosomal dominant147Feb 20, 2020
Otospondylomegaepiphyseal dysplasia, autosomal recessive147Feb 20, 2020
Ovarian dysgenesis5Oct 18, 2016
Ovarian dysgenesis 150Feb 20, 2020
Ovarian dysgenesis 218Feb 20, 2020
Ovarian hyperstimulation syndrome54Feb 20, 2020
Oxoglutaricaciduria1Nov 15, 2023
P5CS deficiency1Nov 6, 2023
PACS1-related syndrome1Apr 1, 2020
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia1Jun 29, 2023
PAK1-related neurodevelopmental disorders1Jul 16, 2020
PALB2-related disorder7Mar 19, 2024
PAX2-related disorder1Nov 6, 2023
PBX1-related intellectual disability and pleiotropic developmental defects1Dec 14, 2020
PCDH15-related disorder1Feb 1, 2019
PCSK9-related disorder3Apr 5, 2019
PCWH syndrome40Feb 20, 2020
PDE6B-related disorder1Feb 1, 2019
PDE6H-related disorder1Feb 1, 2019
PDS5B-related developmental disorder1Nov 15, 2023
PERCHING syndrome2Mar 19, 2024
PEX7-related disorder3Feb 1, 2019
PGM1-congenital disorder of glycosylation53Feb 20, 2020
PGM1-related disorder1Feb 1, 2019
PHARC syndrome51Feb 20, 2020
PHGDH deficiency48Feb 20, 2020
PIK3CA related overgrowth syndrome2Mar 19, 2024
PITX2-Related Eye Abnormalities63Feb 20, 2020
PLA2G6-associated neurodegeneration79Nov 15, 2023
PLEC-related epidermolysis bullosa2Dec 14, 2020
PLK4-related microcephaly and growth failure with or without ocular features2Dec 14, 2020
PMM2-congenital disorder of glycosylation101Mar 19, 2024
PMP22-related disorder1Feb 1, 2019
PMPCB-related mitochondrial disorder1Jul 16, 2020
PNPLA6-related disorder1Feb 1, 2019
POLD1-related disorder1Jul 16, 2020
POLG-Related Spectrum Disorders133Dec 16, 2021
POLG-related disorder1Mar 19, 2024
POLG2-related spectrum disorders1Jul 16, 2020
POLR1C-related disorder1Oct 18, 2016
POLR3-related leukodystrophy18Nov 15, 2023
POLR3A-related neurological disorders5Dec 16, 2021
POMC-related disorder1Feb 1, 2019
POMGNT1-related disorder5Feb 1, 2019
POMT1-related disorder2Apr 5, 2019
PPARG-related familial partial lipodystrophy20Feb 20, 2020
PPP2R1A-related neurodevelopmental disorders1Jul 16, 2020
PRKAG2-related disorder1Apr 5, 2019
PROM1-related disorder2Feb 1, 2019
PRPH2-related disorder1Feb 1, 2019
PRRT2-Associated Paroxysmal Movement Disorders2Sep 19, 2023
PSAT deficiency50Feb 20, 2020
PTCH1-related disorder1Dec 14, 2020
PTCHD1-related autism and intellectual disability1Dec 14, 2020
PTCHD1-related neurodevelopmental disorder1Sep 19, 2023
PTEN hamartoma tumor syndrome133Jun 29, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Jun 29, 2023
Paget disease of bone 2, early-onset83Feb 20, 2020
Paget disease of bone 385Feb 20, 2020
Pallister-Hall syndrome170Feb 20, 2020
Palmoplantar keratoderma, epidermolytic73Feb 20, 2020
Palmoplantar keratoderma-esophageal carcinoma syndrome114Feb 20, 2020
Pancreatic cancer, susceptibility to, 1109Feb 20, 2020
Pancreatic insufficiency-anemia-hyperostosis syndrome1Oct 18, 2016
Papillary renal cell carcinoma type 1140Feb 20, 2020
Papillon-Lefèvre syndrome48Sep 8, 2024
Paragangliomas 52Dec 14, 2022
Paramyotonia congenita of Von Eulenburg204Feb 20, 2020
Parathyroid carcinoma105Feb 20, 2020
Parietal foramina 158Feb 20, 2020
Parietal foramina 2158Feb 20, 2020
Parkes Weber syndrome48Oct 18, 2016
Parkinson Disease, Dominant118Feb 20, 2020
Parkinson Disease, Dominant/Recessive75Feb 20, 2020
Parkinson Disease, Recessive33Oct 18, 2016
Parkinson disease 13, autosomal dominant, susceptibility to47Feb 20, 2020
Parkinson disease 1738Feb 20, 2020
Parkinson disease 5, autosomal dominant, susceptibility to32Feb 20, 2020
Parkinson disease, late-onset41Feb 20, 2020
Parkinsonian-pyramidal syndrome42Feb 20, 2020
Paroxysmal extreme pain disorder213Feb 20, 2020
Paroxysmal familial ventricular fibrillation37Oct 18, 2016
Paroxysmal nonkinesigenic dyskinesia 172Feb 20, 2020
Patterned macular dystrophy 182Feb 20, 2020
Peeling skin syndrome 11Oct 18, 2016
Pelizaeus-Merzbacher disease1Mar 19, 2024
Pendred syndrome132Feb 20, 2020
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1Dec 14, 2020
Peripheral axonal neuropathy4Oct 18, 2016
Periventricular heterotopia with microcephaly, autosomal recessive138Feb 20, 2020
Periventricular laminar heterotopia6Oct 18, 2016
Periventricular nodular heterotopia 91Dec 14, 2020
Perlman syndrome99Feb 20, 2020
Permanent neonatal diabetes mellitus187Feb 20, 2020
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome28Feb 20, 2020
Peroxisome biogenesis disorder1Jun 29, 2023
Peroxisome biogenesis disorder 10A (Zellweger)46Feb 20, 2020
Peroxisome biogenesis disorder 11A (Zellweger)92Feb 20, 2020
Peroxisome biogenesis disorder 12A (Zellweger)70Feb 20, 2020
Peroxisome biogenesis disorder 13A (Zellweger)51Feb 20, 2020
Peroxisome biogenesis disorder 1A (Zellweger)166Feb 20, 2020
Peroxisome biogenesis disorder 2A (Zellweger)100Feb 20, 2020
Peroxisome biogenesis disorder 3A (Zellweger)47Feb 20, 2020
Peroxisome biogenesis disorder 4A (Zellweger)67Feb 20, 2020
Peroxisome biogenesis disorder 5A (Zellweger)93Feb 20, 2020
Peroxisome biogenesis disorder 6A (Zellweger)77Feb 20, 2020
Peroxisome biogenesis disorder 7A (Zellweger)124Feb 20, 2020
Peroxisome biogenesis disorder 8A (Zellweger)44Feb 20, 2020
Peroxisome biogenesis disorder 9B37Feb 20, 2020
Perrault syndrome2Oct 18, 2016
Perrault syndrome 161Dec 20, 2021
Perry syndrome84Feb 20, 2020
Peters plus syndrome96Feb 20, 2020
Peutz-Jeghers syndrome121Feb 20, 2020
Pfeiffer syndrome7Oct 18, 2016
Phelan-McDermid syndrome4Mar 19, 2024
Phenylketonuria65Feb 20, 2020
Pheochromocytoma400Feb 20, 2020
Phosphoenolpyruvate carboxykinase (GTP) deficiency16Oct 18, 2016
Phosphoenolpyruvate carboxykinase deficiency, cytosolic76Feb 20, 2020
Phosphoribosylpyrophosphate synthetase superactivity25Feb 20, 2020
Phytanic acid storage disease51Feb 20, 2020
Piebaldism120Feb 20, 2020
Pierson syndrome124Feb 20, 2020
Pigmentary pallidal degeneration45Feb 20, 2020
Pigmentary retinal dystrophy161Feb 20, 2020
Pigmented paravenous retinochoroidal atrophy70Feb 20, 2020
Pitt-Hopkins syndrome172Aug 9, 2021
Pitt-Hopkins-like syndrome182Oct 18, 2016
Pitt-Hopkins-like syndrome 2177Feb 20, 2020
Pituitary hormone deficiency, combined, 120Dec 20, 2021
Pituitary hormone deficiency, combined, 234Feb 20, 2020
Pituitary hormone deficiency, combined, 630Feb 20, 2020
Platelet-type bleeding disorder 1093Feb 20, 2020
Platelet-type bleeding disorder 9213Feb 20, 2020
Pleuropulmonary blastoma17Oct 18, 2016
Poirier-Bienvenu neurodevelopmental syndrome1Jun 11, 2024
Polycystic kidney disease 2105Aug 9, 2021
Polycystic kidney disease, adult type2Dec 20, 2021
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 122Feb 20, 2020
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 220Feb 20, 2020
Polycystic liver disease 1123Feb 20, 2020
Polycystic liver disease 2132Feb 20, 2020
Polydactyly205Feb 20, 2020
Polydactyly of a triphalangeal thumb111Feb 20, 2020
Polymorphous corneal dystrophy68Feb 20, 2020
Pontocerebellar hypoplasia type 1A23Feb 20, 2020
Pontocerebellar hypoplasia type 1B41Mar 19, 2024
Pontocerebellar hypoplasia type 2D73Feb 20, 2020
Pontocerebellar hypoplasia type 635Feb 20, 2020
Pontoneocerebellar hypoplasia228Mar 19, 2024
Popliteal pterygium syndrome8Oct 18, 2016
Porencephalic cyst77Oct 18, 2016
Porencephaly 2189Feb 20, 2020
Porphobilinogen synthase deficiency88Feb 20, 2020
Porphyria cutanea tarda6Oct 18, 2016
Posterior column ataxia-retinitis pigmentosa syndrome212Apr 1, 2020
Posterior polar cataract1Oct 18, 2016
Potassium-aggravated myotonia204Feb 20, 2020
Predisposition to invasive fungal disease due to CARD9 deficiency66Feb 20, 2020
Premature ovarian failure1Oct 18, 2016
Premature ovarian failure 2B55Feb 20, 2020
Premature ovarian failure 555Feb 20, 2020
Premature ovarian failure 621Feb 20, 2020
Primary Microcephaly 2 With or Without Cortical Malformations4Oct 18, 2016
Primary Microcephaly, Recessive72Oct 18, 2016
Primary bone dysplasia with increased bone density5Oct 18, 2016
Primary ciliary dyskinesia375Oct 18, 2016
Primary ciliary dyskinesia 1067Sep 8, 2024
Primary ciliary dyskinesia 1154Feb 20, 2020
Primary ciliary dyskinesia 1220Feb 20, 2020
Primary ciliary dyskinesia 1387Feb 20, 2020
Primary ciliary dyskinesia 14100Feb 20, 2020
Primary ciliary dyskinesia 15142May 23, 2024
Primary ciliary dyskinesia 1734Feb 20, 2020
Primary ciliary dyskinesia 1932Sep 8, 2024
Primary ciliary dyskinesia 21Feb 1, 2019
Primary ciliary dyskinesia 3419Sep 8, 2024
Primary ciliary dyskinesia 788Mar 19, 2024
Primary ciliary dyskinesia 977Feb 20, 2020
Primary coenzyme Q10 deficiency 82Sep 19, 2023
Primary congenital glaucoma18Oct 18, 2016
Primary dilated cardiomyopathy62Nov 6, 2023
Primary erythromelalgia186Feb 20, 2020
Primary familial polycythemia due to EPO receptor mutation52Feb 20, 2020
Primary hyperoxaluria9Oct 18, 2016
Primary hyperoxaluria type 374Sep 8, 2024
Primary hyperoxaluria, type I61Feb 20, 2020
Primary hyperoxaluria, type II38Feb 20, 2020
Primary hypomagnesemia77Feb 20, 2020
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency118Feb 20, 2020
Primary open angle glaucoma79Feb 20, 2020
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome2Mar 19, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions24Oct 18, 2016
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 269Feb 20, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 370Feb 20, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 422Feb 20, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 580Feb 20, 2020
Progressive familial heart block41Oct 18, 2016
Progressive familial heart block type IB112Feb 20, 2020
Progressive familial heart block, type 1A181Feb 20, 2020
Progressive familial intrahepatic cholestasis13Oct 18, 2016
Progressive familial intrahepatic cholestasis type 1143Apr 25, 2024
Progressive familial intrahepatic cholestasis type 2108Mar 19, 2024
Progressive familial intrahepatic cholestasis type 360Feb 20, 2020
Progressive myoclonic epilepsy209Feb 20, 2020
Progressive myoclonic epilepsy type 3100Jun 1, 2022
Progressive myoclonic epilepsy type 64Feb 20, 2020
Progressive myositis ossificans50Jul 16, 2020
Progressive pseudorheumatoid dysplasia20Feb 20, 2020
Prolidase deficiency79Feb 20, 2020
Propionic acidemia115Feb 20, 2020
Prostate cancer, hereditary, 91Dec 14, 2020
Proteasome-associated autoinflammatory syndrome 125Feb 20, 2020
Protoporphyria, erythropoietic, 1131Feb 20, 2020
Pseudo-Hurler polydystrophy109Feb 20, 2020
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome62Feb 20, 2020
Pseudohypoaldosteronism type 2A27Oct 18, 2016
Pseudohypoaldosteronism type 2B96Feb 20, 2020
Pseudohypoaldosteronism type 2C197Feb 20, 2020
Pseudohypoaldosteronism type 2D114Feb 20, 2020
Pseudohypoaldosteronism type 2E110Feb 20, 2020
Pseudohypoaldosteronism, type IB1, autosomal recessive215Feb 20, 2020
Pseudohypoparathyroidism type 1B119Apr 1, 2020
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1Mar 15, 2024
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency10Feb 20, 2020
Pulmonary Surfactant Metabolism Dysfunction, Dominant19Oct 18, 2016
Pulmonary Surfactant Metabolism Dysfunction, Recessive4Oct 18, 2016
Pulmonary arteriovenous malformation1Mar 19, 2024
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 170Feb 20, 2020
Pulmonary hypertension, primary, 1225Feb 20, 2020
Purine-nucleoside phosphorylase deficiency57Feb 20, 2020
Pyknodysostosis19Feb 20, 2020
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome69Feb 20, 2020
Pyridoxal phosphate-responsive seizures61Feb 20, 2020
Pyridoxine-dependent epilepsy142Dec 14, 2020
Pyropoikilocytosis, hereditary270Feb 20, 2020
Pyruvate carboxylase deficiency89Feb 20, 2020
Pyruvate dehydrogenase E1-alpha deficiency55Dec 13, 2022
Pyruvate dehydrogenase E1-beta deficiency33Feb 20, 2020
Pyruvate dehydrogenase E2 deficiency1Feb 1, 2019
Pyruvate dehydrogenase E3 deficiency70Feb 20, 2020
Pyruvate dehydrogenase E3-binding protein deficiency82Feb 20, 2020
Pyruvate dehydrogenase complex deficiency79Feb 20, 2020
Pyruvate dehydrogenase phosphatase deficiency5Oct 18, 2016
Pyruvate kinase deficiency of red cells69Feb 20, 2020
Qualitative or quantitative defects of beta-sarcoglycan91Feb 20, 2020
Qualitative or quantitative defects of delta-sarcoglycan213Feb 20, 2020
Qualitative or quantitative defects of dysferlin222Sep 10, 2024
Qualitative or quantitative defects of dystrophin5Nov 6, 2023
Quebec platelet disorder64Feb 20, 2020
RAB23-related Carpenter syndrome56Feb 20, 2020
RAB3GAP2-related disorder1Feb 1, 2019
RAD51C-related disorder2Apr 5, 2019
RAG1-related disorder3Feb 1, 2019
RAPSN-related disorder2Feb 1, 2019
RAX2-related disorder1Feb 1, 2019
RBBP8-related disorder2Feb 1, 2019
RDH12-related disorder1Feb 1, 2019
RECQL4-related spectrum disorders2Aug 9, 2021
RFT1-congenital disorder of glycosylation120Feb 20, 2020
RLBP1-related disorder3Feb 1, 2019
RLIM-related syndromic intellectual disability1Aug 9, 2021
RNU4ATAC-related spliceosomopathies2Apr 1, 2020
ROR2-related disorder1Feb 1, 2019
RP1-related retinal dystrophy2Apr 1, 2020
RPE65-related disorder2Feb 1, 2019
RPGRIP1L-related disorder7Apr 8, 2019
RYR1-related disorder10Nov 15, 2023
Rabson-Mendenhall syndrome242Feb 20, 2020
Radial aplasia-thrombocytopenia syndrome1Mar 15, 2024
Radio-Tartaglia syndrome1Mar 19, 2024
Rafiq syndrome110Feb 20, 2020
Rahman syndrome1Mar 19, 2024
Refractory anemia with ringed sideroblasts13Oct 18, 2016
Renal Hypomagnesemia, Dominant3Oct 18, 2016
Renal Hypomagnesemia, Recessive8Oct 18, 2016
Renal carnitine transport defect89Dec 14, 2020
Renal cysts and diabetes syndrome57Feb 20, 2020
Renal dysplasia and retinal aplasia28Oct 18, 2016
Renal hypodysplasia/aplasia 1194Feb 20, 2020
Renal hypodysplasia/aplasia 31Dec 14, 2020
Renal hypomagnesemia 219Feb 20, 2020
Renal hypomagnesemia 4121Feb 20, 2020
Renal hypomagnesemia 5 with ocular involvement64Feb 20, 2020
Renal hypomagnesemia 657Feb 20, 2020
Renal tubular acidosis with progressive nerve deafness52Feb 20, 2020
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1Apr 25, 2024
Renal tubular dysgenesis332Feb 20, 2020
Renal-hepatic-pancreatic dysplasia 1100Feb 20, 2020
Renpenning syndrome11Jun 1, 2022
Retinal cone dystrophy 3A15Feb 20, 2020
Retinal cone dystrophy 4164Feb 20, 2020
Retinal degeneration75Oct 18, 2016
Retinal dystrophy46Oct 18, 2016
Retinal macular dystrophy type 2108Feb 20, 2020
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations32Feb 20, 2020
Retinitis Pigmentosa, Dominant161Feb 1, 2019
Retinitis Pigmentosa, Dominant/Recessive4Oct 18, 2016
Retinitis Pigmentosa, Recessive454Feb 20, 2020
Retinitis pigmentosa3836Sep 8, 2024
Retinitis pigmentosa 253Jun 11, 2024
Retinitis pigmentosa 37Oct 18, 2016
Retinitis pigmentosa 3712Feb 20, 2020
Retinitis pigmentosa 581Feb 20, 2020
Retinitis pigmentosa-deafness syndrome72Oct 18, 2016
Retinoblastoma93Feb 20, 2020
Rett syndrome6Mar 19, 2024
Rett syndrome, congenital variant1Mar 19, 2024
Revesz syndrome40Feb 20, 2020
Rhabdoid tumor predisposition syndrome4Oct 18, 2016
Rhabdoid tumor predisposition syndrome 132Feb 20, 2020
Rhabdoid tumor predisposition syndrome 21Apr 1, 2020
Rhizomelic chondrodysplasia punctata36Oct 18, 2016
Rhizomelic chondrodysplasia punctata type 138Feb 20, 2020
Rhizomelic chondrodysplasia punctata type 261Feb 20, 2020
Rhizomelic chondrodysplasia punctata type 3127Feb 20, 2020
Ring dermoid of cornea63Feb 20, 2020
Roberts-SC phocomelia syndrome73Feb 20, 2020
Rotor syndrome182Feb 20, 2020
Roussy-Lévy syndrome35Feb 20, 2020
Rubinstein-Taybi syndrome1Jul 16, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations33Jun 1, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Mar 19, 2024
SAG-related disorder1Feb 1, 2019
SALL4-Related Spectrum Disorders1Oct 18, 2016
SATB2 associated disorder2Mar 19, 2024
SATB2-associated syndrome1Nov 15, 2023
SCAMP5-related neurodevelopmental disorder with autistic features and seizures1Nov 6, 2023
SCN1A Seizure Disorders3Nov 6, 2023
SCN1A-related disorder1Feb 20, 2020
SCN2A-related generalized epilepsy with febrile seizures plus1Dec 14, 2020
SCN3A-related neurodevelopmental disorder2Dec 20, 2021
SCN3A-related neurodevelopmental sisorder2Jul 16, 2020
SCN4A-related myopathy, autosomal recessive1Dec 16, 2021
SCN5A-Related Arrhythmias1Feb 1, 2019
SCN5A-related disorder7Sep 19, 2023
SCN8A-related complex neurodevelopmental disorder2Aug 9, 2021
SCN9A-related disorder1Jul 16, 2020
SCN9A-related peripheral neuropathies associated with increased pain1Dec 14, 2020
SCNN1A-related disorder2Feb 1, 2019
SCO1-related disorder1Feb 1, 2019
SDCCAG8-related disorder3Feb 1, 2019
SDHA-related disorder2Feb 1, 2019
SDHB-related disorder1Oct 18, 2016
SEPN1-related disorder111Feb 20, 2020
SETD5-related syndromic intellectual disability1Aug 9, 2021
SETX-related disorder1Feb 1, 2019
SH3TC2-related disorder4Feb 1, 2019
SIN3A-related intellectual disability syndrome due to a point mutation1Dec 16, 2021
SLC17A5-related disorder1Feb 1, 2019
SLC25A38-related disorder2Feb 1, 2019
SLC26A2-related disorder5Feb 1, 2019
SLC26A4-related disorder14Apr 5, 2019
SLC33A1-related hereditary spastic paraplegia1Dec 20, 2021
SLC34A1-related disorder1Feb 1, 2019
SLC5A6-related disorder2Dec 14, 2020
SLC6A1-related neurodevelopmental disorder1Nov 15, 2023
SMAD2-related disorder1Dec 14, 2020
SMARCC2-related neurodevelopmental disorder2Dec 16, 2021
SMC1A-related cohesinopathy2Aug 9, 2021
SOX4-related neurodevelopmental disorder1Apr 1, 2020
SPAST-related spastic paraplegia2Jun 1, 2022
SPATA7-related disorder3Feb 1, 2019
SPECC1L-related syndrome2Jun 1, 2022
SPG11-related spastic paraplegia2Apr 1, 2020
SPTBN4-related neurodevelopmental disorder2Apr 1, 2020
SRD5A3-congenital disorder of glycosylation78Feb 20, 2020
STAT5B-related growth hormone insensitivity syndrome1Apr 1, 2020
STXBP1-related neurodevelopmental disorder2Dec 16, 2021
SUFU-related disorder1Dec 14, 2020
SYNE1-related disorder7Feb 1, 2019
SYT1-associated neurodevelopmental disorder1Dec 14, 2020
Sacral defect with anterior meningocele177Feb 20, 2020
Saethre-Chotzen syndrome100Jun 29, 2023
Saldino-Mainzer syndrome183Feb 20, 2020
Salla disease61Feb 20, 2020
Sandhoff disease36Feb 20, 2020
Sanfilippo syndrome28Oct 18, 2016
Sarcoglycanopathy82Feb 20, 2020
Sarcotubular myopathy65Feb 20, 2020
Scapuloperoneal myopathy17Oct 18, 2016
Scapuloperoneal spinal muscular atrophy106Feb 20, 2020
Scapuloperoneal weakness3Oct 18, 2016
SchC6pf-Schulz-Passarge syndrome70Feb 20, 2020
Schaaf-Yang syndrome6Dec 20, 2021
Schimke immuno-osseous dysplasia58Feb 20, 2020
Schinzel-Giedion syndrome17Jun 29, 2023
Schnyder crystalline corneal dystrophy86Feb 20, 2020
Schwannomatosis4Oct 18, 2016
Schwannomatosis 132Feb 20, 2020
Schwannomatosis 23Nov 6, 2023
Schwartz-Jampel syndrome464Feb 20, 2020
Sclerosteosis 137Feb 20, 2020
Seckel syndrome26Oct 18, 2016
Seckel syndrome 1120Dec 14, 2020
Seckel syndrome 4104Feb 20, 2020
Seckel syndrome 5100Feb 20, 2020
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome14Oct 18, 2016
Seizures, benign familial infantile, 3141Feb 20, 2020
Seizures, benign familial neonatal, 2238Dec 16, 2021
Seizures, early-onset, with neurodegeneration and brain calcifications1Dec 20, 2021
Selective tooth agenesis19Oct 18, 2016
Sengers syndrome72Feb 20, 2020
Senior-Loken syndrome 146Feb 20, 2020
Senior-Loken syndrome 4159Feb 20, 2020
Senior-Loken syndrome 547Feb 20, 2020
Senior-Loken syndrome 6130Feb 20, 2020
Senior-Loken syndrome 746Feb 20, 2020
Sensory Neuropathy with Spastic Paraplegia7Oct 18, 2016
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis70Feb 20, 2020
Septo-optic dysplasia sequence13Feb 20, 2020
Severe X-linked mitochondrial encephalomyopathy27Feb 20, 2020
Severe combined immunodeficiency disease28Oct 18, 2016
Severe combined immunodeficiency due to DCLRE1C deficiency84Feb 20, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency40Feb 20, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive146Feb 20, 2020
Severe congenital neutropenia14Oct 18, 2016
Severe early-childhood-onset retinal dystrophy103Feb 20, 2020
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome3Mar 19, 2024
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Mar 19, 2024
Severe intellectual disability-progressive spastic diplegia syndrome2Mar 19, 2024
Severe myoclonic epilepsy in infancy16Oct 18, 2016
Shashi-Pena syndrome4Mar 19, 2024
Short QT syndrome49Oct 18, 2016
Short QT syndrome type 298Feb 20, 2020
Short QT syndrome type 3100Feb 20, 2020
Short rib-polydactyly syndrome99Oct 18, 2016
Short stature due to growth hormone secretagogue receptor deficiency66Feb 20, 2020
Short stature due to partial GHR deficiency4Oct 18, 2016
Short stature due to primary acid-labile subunit deficiency71Feb 20, 2020
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome2Jun 1, 2022
Short stature-pituitary and cerebellar defects-small sella turcica syndrome46Feb 20, 2020
Short-rib thoracic dysplasia 6 with or without polydactyly108Feb 20, 2020
Short-rib thoracic dysplasia 7 with or without polydactyly158Feb 20, 2020
Shwachman-Diamond syndrome 13Dec 20, 2021
Sialic acid storage disease, severe infantile type55Feb 20, 2020
Sialidosis type 235Feb 20, 2020
Sialuria104Feb 20, 2020
Sick sinus syndrome37Oct 18, 2016
Sick sinus syndrome 1182Feb 20, 2020
Sick sinus syndrome 2, autosomal dominant82Feb 20, 2020
Sideroblastic Anemia and Ataxia9Oct 18, 2016
Sideroblastic anemia 255Apr 12, 2024
Silver-Russell syndrome 31Dec 20, 2021
Simpson-Golabi-Behmel syndrome type 11Jun 1, 2022
Sitosterolemia18Feb 1, 2019
Sitosterolemia 1160Feb 20, 2020
Sjögren-Larsson syndrome78Feb 20, 2020
Skeletal dysplasia143Oct 18, 2016
Skraban-Deardorff syndrome1Mar 19, 2024
Sleep-related hypermotor epilepsy17Oct 18, 2016
Small fiber neuropathy97Oct 18, 2016
Smith-Lemli-Opitz syndrome103Sep 8, 2024
Smith-McCort dysplasia48Oct 18, 2016
Smith-McCort dysplasia 16Feb 20, 2020
Smith-McCort dysplasia 264Feb 20, 2020
Snijders Blok-Campeau syndrome2Jun 1, 2022
Somatotroph adenoma38Mar 19, 2024
Sorsby fundus dystrophy105Feb 20, 2020
Sotos syndrome20Nov 6, 2023
Spastic Paraplegia, Recessive36Feb 1, 2019
Spastic paraplegia, autosomal dominant65Oct 18, 2016
Spermatogenic Failure9Oct 18, 2016
Spermatogenic failure 415Feb 20, 2020
Spermatogenic failure 767Feb 20, 2020
Spherocytosis202Feb 20, 2020
Spherocytosis, Dominant149Oct 18, 2016
Spherocytosis, Recessive33Oct 18, 2016
Sphingolipid activator protein 1 deficiency68Feb 20, 2020
Sphingomyelin/cholesterol lipidosis2Oct 18, 2016
Spinal Muscular Atrophy, Dominant21Oct 18, 2016
Spinal muscular atrophy2Jul 16, 2020
Spinal muscular atrophy with congenital bone fractures 22Mar 15, 2024
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1Nov 15, 2023
Spinocerebellar ataxia 472Dec 20, 2021
Spinocerebellar ataxia type 1179Feb 20, 2020
Spinocerebellar ataxia type 1450Feb 20, 2020
Spinocerebellar ataxia type 2364Feb 20, 2020
Spinocerebellar ataxia type 2746Feb 20, 2020
Spinocerebellar ataxia type 2850Dec 20, 2021
Spinocerebellar ataxia type 3579Feb 20, 2020
Spinocerebellar ataxia type 520Sep 19, 2023
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 185Feb 20, 2020
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2214Apr 1, 2020
Split hand-foot malformation 340Feb 20, 2020
Split hand-foot malformation 41Dec 14, 2020
Spondylocostal dysostosis5Oct 18, 2016
Spondylocostal dysostosis 1, autosomal recessive64Feb 20, 2020
Spondylocostal dysostosis 2, autosomal recessive41Feb 20, 2020
Spondyloepimetaphyseal dysplasia7Oct 18, 2016
Spondyloepimetaphyseal dysplasia, Missouri type50Feb 20, 2020
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome51Feb 20, 2020
Spondyloepiphyseal dysplasia congenita152Oct 18, 2016
Spondyloepiphyseal dysplasia tarda53Feb 20, 2020
Spondyloepiphyseal dysplasia with congenital joint dislocations206Feb 20, 2020
Spondyloepiphyseal dysplasia, kondo-fu type1Mar 19, 2024
Spondylometaphyseal dysplasia2Oct 18, 2016
Spondylometaphyseal dysplasia, Kozlowski type104Feb 20, 2020
Spongy degeneration of central nervous system16Apr 25, 2024
Spontaneous pneumothorax5Oct 18, 2016
Stargardt Disease, Dominant13Oct 18, 2016
Stargardt Disease, Recessive104Oct 18, 2016
Stargardt disease 363Feb 20, 2020
Stargardt disease 4108Feb 20, 2020
Sterile multifocal osteomyelitis with periostitis and pustulosis49Feb 20, 2020
Steroid-resistant nephrotic syndrome2Oct 18, 2016
Stickler Syndrome, Dominant116Oct 18, 2016
Stickler Syndrome, Recessive4Oct 18, 2016
Stickler syndrome type 1122Mar 15, 2024
Stickler syndrome type 2160Apr 12, 2024
Stickler syndrome, type 51Feb 1, 2019
Stiff skin syndrome236Feb 20, 2020
Striatal Degeneration12Oct 18, 2016
Stuve-Wiedemann syndrome215Feb 20, 2020
Succinate-semialdehyde dehydrogenase deficiency135Feb 20, 2020
Succinyl-CoA acetoacetate transferase deficiency64Mar 19, 2024
Sucrase-isomaltase deficiency154Feb 20, 2020
Sulfate transporter-related osteochondrodysplasia152Feb 20, 2020
Sulfite oxidase deficiency49Dec 14, 2020
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A125Dec 13, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B55Feb 20, 2020
Supravalvar aortic stenosis107Sep 19, 2023
Surfactant metabolism dysfunction, pulmonary, 166Feb 20, 2020
Surfactant metabolism dysfunction, pulmonary, 240Feb 20, 2020
Susceptibility to Nonalcoholic Fatty Liver Disease4Oct 18, 2016
Susceptibility to mononeuropathy of the median nerve, mild532Feb 20, 2020
Symmetrical dyschromatosis of extremities131Feb 20, 2020
Symphalangism-brachydactyly syndrome21Oct 18, 2016
Syndactyly73Feb 20, 2020
Syndactyly type 355Feb 20, 2020
Syndromic Microphthalmia, Dominant34Oct 18, 2016
Syndromic Microphthalmia, Recessive7Oct 18, 2016
Syndromic X-linked intellectual disability Claes-Jensen type1Apr 1, 2020
Syndromic X-linked intellectual disability Siderius type1Nov 15, 2023
Syndromic intellectual disability55Dec 20, 2021
Syndromic microphthalmia type 521Mar 19, 2024
T-B+ severe combined immunodeficiency due to JAK3 deficiency136Feb 20, 2020
T-cell immunodeficiency, congenital alopecia, and nail dystrophy69Feb 20, 2020
TAB2-related disorder1Aug 9, 2021
TAB2-related syndrome1Dec 13, 2022
TAF1-related X-linked syndromic intellectual disability1Dec 13, 2022
TAF1-related syndromic intellectual disability2Dec 14, 2020
TANC2-related neurodevelopmental disorders1Jul 16, 2020
TAOK1-related neurodevelopmental disorder1Jul 16, 2020
TBL1XR1-related neurodevelopmental disorder1Nov 6, 2023
TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome1Jul 16, 2020
TCF20-related neurodevelopmental disorder1Dec 13, 2022
TCTN2-related disorder2Feb 1, 2019
TERT-related disorder1Feb 1, 2019
TGFB3-related connective tissue disorders1Dec 14, 2020
TLK2-related neurodevelopmental disorder1Apr 1, 2020
TMC1-related disorder1Feb 1, 2019
TMEM165-congenital disorder of glycosylation16Feb 20, 2020
TMEM216-related disorder2Feb 1, 2019
TMEM67-related disorder5Feb 1, 2019
TNF receptor-associated periodic fever syndrome (TRAPS)47Mar 19, 2024
TNNT2-Related Cardiomyopathy1Feb 1, 2019
TNRC6B-related complex neurodevelopmental disorder1Dec 20, 2021
TP63-Related Spectrum Disorders102Feb 20, 2020
TPM2-related disorder2Feb 1, 2019
TPM2-related myopathy1Nov 6, 2023
TRAF7-related syndrome1Dec 13, 2022
TRAPPC6B-related neurodevelopmental disorder1Dec 14, 2020
TREX1-related disorder2Feb 1, 2019
TRPM4-related disorder1Oct 18, 2016
TRPV4-Associated Disorders1Feb 1, 2019
TRPV4-associated skeletal dysplasias1Dec 14, 2020
TRPV4-related bone disorder1Dec 16, 2021
TRPV4-related disorder1Dec 20, 2021
TRRAP-related neurodevelopmental disorder3Dec 20, 2021
TSHR-related disorder1Feb 1, 2019
TTC21B-related disorder2Feb 1, 2019
TTN-related disorder21Mar 19, 2024
TTN-related myopathy5Aug 9, 2021
TUBB-related tubulinopathy1Dec 14, 2020
TUBB2A-related tubulinopathy1Aug 9, 2021
TUBB2B-related tubulinopathy1Dec 20, 2021
TUBB3-related tubulinopathy2Dec 14, 2020
TUBB4A-related hypomyelinating leukodystrophy and/or torsion dystonia1Dec 20, 2021
TULP1-related disorder1Feb 1, 2019
Tangier disease253Feb 20, 2020
Tatton-Brown-Rahman overgrowth syndrome2Jun 29, 2023
Tay-Sachs disease35Dec 14, 2020
Tay-Sachs disease, variant AB92Feb 20, 2020
Telangiectasia, hereditary hemorrhagic, type 1149Mar 19, 2024
Telangiectasia, hereditary hemorrhagic, type 287Feb 20, 2020
Testosterone 17-beta-dehydrogenase deficiency28Feb 20, 2020
Tetralogy of Fallot1Mar 15, 2024
Thiamine Metabolism Dysfunction Syndrome7Oct 18, 2016
Thiamine-responsive megaloblastic anemia39Oct 18, 2016
Thiopurine S-methyltransferase deficiency6Oct 18, 2016
Thrombocythemia 184Feb 20, 2020
Thrombocytopenia98Feb 20, 2020
Thrombocytopenia 2128Feb 20, 2020
Thrombophilia due to activated protein C resistance307Feb 20, 2020
Thrombophilia due to protein C deficiency, autosomal dominant50Jun 1, 2022
Thrombophilia due to protein S deficiency, autosomal dominant79Feb 20, 2020
Thrombophilia due to thrombin defect235Feb 20, 2020
Thyroid Hormonogenesis Defect8Oct 18, 2016
Thyroid dyshormonogenesis2Oct 18, 2016
Thyroid dyshormonogenesis 188Feb 20, 2020
Thyroid dyshormonogenesis 6209Sep 8, 2024
Thyroid hormone metabolism, abnormal 11Sep 19, 2023
Thyroid hormone resistance syndrome28Oct 18, 2016
Thyroid hormone resistance, generalized, autosomal dominant151Feb 20, 2020
Tibial muscular dystrophy1814Feb 20, 2020
Tietz syndrome107Feb 20, 2020
Timothy syndrome13Aug 9, 2021
Tolchin-Le Caignec syndrome3Mar 19, 2024
Tooth agenesis, selective, 353Feb 20, 2020
Tooth agenesis, selective, 455Feb 20, 2020
Tooth agenesis, selective, 71Dec 16, 2021
Torsion dystonia 439Feb 20, 2020
Torsion dystonia 643Feb 20, 2020
Tourette syndrome100Feb 20, 2020
Townes-Brocks syndrome 112Mar 19, 2024
Transcobalamin II deficiency82Feb 20, 2020
Transient Neonatal Diabetes, Dominant16Oct 18, 2016
Transient Neonatal Diabetes, Dominant/Recessive24Feb 20, 2020
Transient Neonatal Diabetes, Recessive61Feb 20, 2020
Treacher Collins Syndrome, Dominant4Oct 18, 2016
Treacher Collins Syndrome, Recessive3Oct 18, 2016
Treacher Collins syndrome 330Feb 20, 2020
Tremor, hereditary essential, 113Feb 20, 2020
Trichoepithelioma, multiple familial, 26Oct 18, 2016
Trichohepatoenteric syndrome10Oct 18, 2016
Trichohepatoenteric syndrome 281Feb 20, 2020
Trichorhinophalangeal syndrome22Dec 16, 2021
Trichothiodystrophy 5, nonphotosensitive1Dec 13, 2022
Trichothiodystrophy 9, nonphotosensitive2Nov 15, 2023
Triglyceride storage disease with ichthyosis121Feb 20, 2020
Trigonocephaly 1137Feb 20, 2020
Trimethylaminuria55Feb 20, 2020
Triosephosphate isomerase deficiency41Feb 20, 2020
Triphalangeal thumb-polysyndactyly syndrome6Oct 18, 2016
Troyer syndrome85Feb 20, 2020
Tryptophan 5-monooxygenase deficiency42Feb 20, 2020
Tuberous sclerosis 1202Mar 19, 2024
Tuberous sclerosis 23Nov 6, 2023
Tuberous sclerosis syndrome308Feb 20, 2020
Tubulinopathy3Mar 19, 2024
Tumoral calcinosis, hyperphosphatemic, familial, 148Feb 20, 2020
Tumoral calcinosis, hyperphosphatemic, familial, 255Feb 20, 2020
Tumoral calcinosis, hyperphosphatemic, familial, 3117Feb 20, 2020
Type 2 collagenopathy2Mar 19, 2024
Type II Collagenopathies123Feb 20, 2020
Tyrosinase-positive oculocutaneous albinism102Jul 16, 2020
Tyrosinemia type I71Apr 12, 2024
Tyrosinemia type II49Feb 20, 2020
Tyrosinemia type III29Feb 20, 2020
UDPglucose-4-epimerase deficiency41Feb 20, 2020
UGT1A1-related disorder2Feb 1, 2019
USH1G-related disorder1Feb 1, 2019
USH2A-related disorder6Feb 1, 2019
USP7-related neurodevelopmental disorder2Jul 16, 2020
USP9X-related neurodevelopmental disorder3Dec 16, 2021
Ulnar-mammary syndrome117Feb 20, 2020
Unverricht-Lundborg syndrome27Feb 20, 2020
Upshaw-Schulman syndrome129Feb 20, 2020
Usher syndrome1Feb 1, 2019
Usher syndrome type 1397Feb 20, 2020
Usher syndrome type 1C81Feb 20, 2020
Usher syndrome type 1D367Feb 20, 2020
Usher syndrome type 1G67Feb 20, 2020
Usher syndrome type 2A135Mar 19, 2024
Usher syndrome type 2C409Feb 20, 2020
Usher syndrome type 2D126Feb 20, 2020
Usher syndrome type 348Feb 20, 2020
Usher syndrome type 3A1Jun 29, 2023
VACTERL association, X-linked, with or without hydrocephalus69Feb 20, 2020
VACTERL with hydrocephalus3Oct 18, 2016
VCP-related disorder1Feb 1, 2019
VCP-related multisystem proteinopathy1Apr 1, 2020
VSX2-related Microphthalmia5Feb 1, 2019
Van der Woude syndrome 182Feb 20, 2020
Vanishing white matter disease219Nov 6, 2023
Variegate porphyria33Feb 20, 2020
Ventricular fibrillation, paroxysmal familial, type 1181Feb 20, 2020
Ververi-Brady syndrome1Dec 14, 2020
Very long chain acyl-CoA dehydrogenase deficiency75Feb 20, 2020
Vesicoureteral reflux8Oct 18, 2016
Vesicoureteral reflux 2153Feb 20, 2020
Visceral heterotaxy30Oct 18, 2016
Visceral myopathy 11Mar 19, 2024
Vitamin D-dependent rickets16Oct 18, 2016
Vitamin D-dependent rickets type II with alopecia122Feb 20, 2020
Vitamin D-dependent rickets, type 137Feb 20, 2020
Vitamin K-Dependent Clotting Factors24Oct 18, 2016
Vitamin K-dependent clotting factors, combined deficiency of, type 1182Feb 20, 2020
Vitamin K-dependent clotting factors, combined deficiency of, type 222Feb 20, 2020
Vitelliform macular dystrophy6Oct 18, 2016
Vitelliform macular dystrophy 257Feb 20, 2020
Vitreoretinopathy228Feb 20, 2020
Von Hippel-Lindau syndrome192Feb 20, 2020
WAC-related neurodevelopmental disorder1Dec 14, 2020
WDR19-related disorder3Feb 1, 2019
WDR35-related disorder3Feb 1, 2019
WFS1-Related Spectrum Disorders215Nov 15, 2023
WNT10A-related disorder1Feb 1, 2019
Waardenburg syndrome96Feb 20, 2020
Waardenburg syndrome type 2A100Feb 20, 2020
Wagner syndrome381Feb 20, 2020
Walker-Warburg congenital muscular dystrophy3Oct 18, 2016
Warburg micro syndrome41Oct 18, 2016
Warburg micro syndrome 175Feb 20, 2020
Warburg micro syndrome 2116Feb 20, 2020
Warburg micro syndrome 3105Feb 20, 2020
Warburg-cinotti syndrome1Mar 19, 2024
Weaver syndrome26Mar 19, 2024
Weill-Marchesani 4 syndrome, recessive344Mar 19, 2024
Weill-Marchesani syndrome556Feb 20, 2020
Weiss-Kruszka syndrome1Mar 19, 2024
Werner syndrome142Aug 9, 2021
White sponge nevus 181Feb 20, 2020
White sponge nevus 255Feb 20, 2020
Wiedemann-Steiner syndrome10Mar 19, 2024
Wilms tumor 182Feb 20, 2020
Wilson disease196Apr 25, 2024
Wolcott-Rallison dysplasia73Feb 20, 2020
Wolff-Parkinson-White pattern104Feb 20, 2020
Wolfram-like syndrome1Dec 16, 2021
Wolman disease65Oct 18, 2016
Woodhouse-Sakati syndrome119Feb 20, 2020
Woolly hair-skin fragility syndrome196Feb 20, 2020
X-linked Alport syndrome2Nov 15, 2023
X-linked Opitz G/BBB syndrome3Dec 14, 2020
X-linked agammaglobulinemia21Dec 16, 2021
X-linked agammaglobulinemia with growth hormone deficiency18Feb 20, 2020
X-linked chondrodysplasia punctata 11Dec 14, 2020
X-linked congenital stationary night blindness2Oct 18, 2016
X-linked intellectual disability Cabezas type2Nov 15, 2023
X-linked intellectual disability, Cantagrel type1Mar 19, 2024
X-linked intellectual disability-short stature-overweight syndrome1May 28, 2024
X-linked lymphoproliferative disease due to SH2D1A deficiency28Feb 20, 2020
X-linked lymphoproliferative disease due to XIAP deficiency95Feb 20, 2020
X-linked mixed hearing loss with perilymphatic gusher11Feb 20, 2020
X-linked nonsyndromic hearing loss3Oct 18, 2016
X-linked severe combined immunodeficiency10Feb 20, 2020
X-linked sideroblastic anemia 150Mar 19, 2024
X-linked sideroblastic anemia with ataxia10Feb 20, 2020
XPR1-related primary familial brain calcification1Aug 9, 2021
Xanthinuria5Oct 18, 2016
Xeroderma pigmentosum59Oct 18, 2016
Xeroderma pigmentosum group A31Sep 19, 2023
Xeroderma pigmentosum group B55Feb 20, 2020
Xeroderma pigmentosum variant type210Feb 20, 2020
Xeroderma pigmentosum, group C103Apr 12, 2024
Xeroderma pigmentosum, group D99Jun 11, 2024
Xeroderma pigmentosum, group E34Feb 20, 2020
Xeroderma pigmentosum, group F160Feb 20, 2020
Xeroderma pigmentosum, group G112Feb 20, 2020
YWHAZ-related neurodevelopmental syndrome1Jun 29, 2023
ZBTB18-related intellectual disability2Dec 16, 2021
ZC4H2-related X-linked intellectual disability2Dec 16, 2021
ZMPSTE24-related disorder1Feb 1, 2019
ZTTK syndrome1Apr 1, 2020
Zonular Pulverulent Cataract26Oct 18, 2016
beta Thalassemia17Feb 20, 2020
carboxymethyl-dextran-A2-gadolinium-DOTA111Feb 20, 2020
delta Thalassemia1Feb 1, 2019
not provided431Jun 18, 2024
von Willebrand disease type 11Dec 14, 2020

Testing in GTR

Disease nameNumber of tests
Abnormal circulating lipid concentration1 test
Cardiac arrhythmia1 test
Cardiomyopathy1 test
Familial aortopathy1 test
Hereditary disease1 test