Illumina Laboratory Services (Illumina)

Summary of submissions to ClinVar

Total submissions: 208884

Gene

GeneSubmissionsLast Updated
AAAS51Feb 20, 2020
AARS180Feb 20, 2020
AARS2132Feb 20, 2020
ABAT153Feb 20, 2020
ABCA1509Feb 20, 2020
ABCA12170Feb 20, 2020
ABCA3204Feb 20, 2020
ABCA4625Feb 20, 2020
ABCB11110Feb 20, 2020
ABCB4126Feb 20, 2020
ABCB718Feb 20, 2020
ABCC2133Feb 20, 2020
ABCC8410Dec 20, 2021
ABCC9141Dec 14, 2020
ABCD172Dec 14, 2020
ABCG591Feb 20, 2020
ABCG8122Feb 20, 2020
ABHD1251Feb 20, 2020
ABHD181Feb 20, 2020
ABHD5121Feb 20, 2020
ABI14Feb 20, 2020
ACAD861Feb 20, 2020
ACAD967Feb 20, 2020
ACADL3Feb 1, 2019
ACADM54Aug 9, 2021
ACADS59Feb 20, 2020
ACADSB147Feb 20, 2020
ACADVL74Feb 20, 2020
ACAN1Aug 9, 2021
ACAT166Feb 20, 2020
ACBD513Feb 20, 2020
ACBD629Feb 20, 2020
ACE178Feb 20, 2020
ACOX1178Feb 20, 2020
ACSL41Oct 7, 2021
ACTA191Dec 14, 2020
ACTA288Feb 20, 2020
ACTA2-AS122Feb 20, 2020
ACTB3Dec 20, 2021
ACTC1378Feb 20, 2020
ACTN2115Feb 20, 2020
ACVR150Jul 16, 2020
ACVR2B245Feb 20, 2020
ACVR2B-AS13Feb 20, 2020
ACVRL189Feb 20, 2020
ACYP11Feb 20, 2020
ADA40Feb 20, 2020
ADAM966Feb 20, 2020
ADAMTS10117Feb 20, 2020
ADAMTS13129Feb 20, 2020
ADAMTS17343Feb 20, 2020
ADAMTS2197Aug 9, 2021
ADAMTS48Feb 20, 2020
ADAMTSL2132Feb 20, 2020
ADAMTSL4133Feb 20, 2020
ADAMTSL4-AS11Oct 18, 2016
ADAMTSL4-AS245Feb 20, 2020
ADAR134Feb 20, 2020
ADGRG1111Feb 20, 2020
ADGRG328Feb 20, 2020
ADGRV1409Feb 20, 2020
ADK30Feb 20, 2020
ADNP4Dec 20, 2021
ADNP-AS116Dec 16, 2021
ADSL29Feb 20, 2020
AFG3L256Dec 20, 2021
AGA60Feb 20, 2020
AGA-DT7Feb 20, 2020
AGK145Feb 20, 2020
AGK-DT2Oct 18, 2016
AGL129Feb 20, 2020
AGMO2Oct 7, 2021
AGO21Dec 16, 2021
AGPAT278Feb 20, 2020
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
AIP38Feb 20, 2020
AIPL1288Feb 20, 2020
AKAP9110Feb 1, 2019
AKR1D196Feb 20, 2020
AKT314Feb 20, 2020
ALAD88Feb 20, 2020
ALAS231Feb 20, 2020
ALB54Feb 20, 2020
ALDH18A176Dec 20, 2021
ALDH3A278Feb 20, 2020
ALDH4A1114Feb 20, 2020
ALDH5A1136Feb 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
ALOX12B73Feb 20, 2020
ALOXE375Feb 20, 2020
ALPL70Feb 20, 2020
ALS2226Feb 20, 2020
ALX4164Feb 20, 2020
AMACR87Feb 20, 2020
AMPD12Oct 18, 2016
AMPD3111Feb 20, 2020
AMT49Dec 14, 2020
ANAPC1546Feb 20, 2020
ANG34Feb 20, 2020
ANGPT25Feb 20, 2020
ANK1427Feb 20, 2020
ANK2251Feb 20, 2020
ANKH445Feb 20, 2020
ANKIB116Feb 20, 2020
ANKRD156Feb 20, 2020
ANKRD171Dec 16, 2021
ANKRD26138Feb 20, 2020
ANO1091Feb 20, 2020
ANO5336Feb 20, 2020
ANTXR2146Feb 20, 2020
AOPEP99Feb 20, 2020
AP3B187Feb 20, 2020
AP3M14Feb 20, 2020
AP5Z1284Feb 20, 2020
APC194Feb 20, 2020
APEX21Feb 20, 2020
APIP13Feb 20, 2020
APOA142Feb 20, 2020
APOA1-AS28Feb 20, 2020
APOA29Feb 20, 2020
APOB624Feb 20, 2020
APOB3'MAR31Feb 20, 2020
APOC223Feb 20, 2020
APOC4-APOC223Feb 20, 2020
APP79Feb 20, 2020
APRT55Feb 20, 2020
APTX73Feb 20, 2020
AQP112Oct 7, 2021
AQP2102Feb 20, 2020
AQP5-AS184Feb 20, 2020
AR1Dec 14, 2020
AREL11Feb 20, 2020
ARFGEF1-DT24Feb 20, 2020
ARFGEF2144Feb 20, 2020
ARG120Feb 20, 2020
ARHGAP315Oct 18, 2016
ARHGEF67Oct 18, 2016
ARID1A3Dec 14, 2020
ARID1B3Dec 20, 2021
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
ASH1L4Dec 20, 2021
ASL46Dec 16, 2021
ASPA16Feb 1, 2019
ASPM248Feb 20, 2020
ASS165Feb 20, 2020
ASTN2133Feb 20, 2020
ASXL16Oct 18, 2016
ASXL21Dec 14, 2020
ASXL32Dec 16, 2021
ATAD3A6Dec 16, 2021
ATCAY137Feb 20, 2020
ATL144Feb 20, 2020
ATM267Aug 9, 2021
ATP13A2117Jul 16, 2020
ATP1A2265Dec 16, 2021
ATP1A3143Jul 16, 2020
ATP2A168Feb 20, 2020
ATP2A1-AS11Feb 20, 2020
ATP2A287Feb 20, 2020
ATP2C170Feb 20, 2020
ATP6V0A2185Feb 20, 2020
ATP6V0A489Feb 20, 2020
ATP6V1B152Feb 20, 2020
ATP6V1B1-AS13Feb 20, 2020
ATP7A1Dec 20, 2021
ATP7B199Feb 20, 2020
ATP8B1152Feb 20, 2020
ATP8B1-AS195Feb 20, 2020
ATPAF234Feb 20, 2020
ATR129Dec 14, 2020
ATRIP66Feb 20, 2020
ATRIP-TREX166Feb 20, 2020
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
BAG3138Feb 20, 2020
BANF127Feb 20, 2020
BAP173Feb 20, 2020
BARD163Feb 20, 2020
BBOF194Feb 20, 2020
BBS174Feb 20, 2020
BBS1079Feb 20, 2020
BBS1263Feb 20, 2020
BBS273Feb 20, 2020
BBS458Feb 20, 2020
BBS756Feb 20, 2020
BBS993Apr 1, 2020
BCHE54Feb 20, 2020
BCKDHA67Feb 20, 2020
BCKDHB74Feb 20, 2020
BCL11A2Aug 9, 2021
BCL11B1Dec 20, 2021
BCOR2Aug 9, 2021
BCS1L72Feb 20, 2020
BEST1227Feb 20, 2020
BFSP238Feb 20, 2020
BFSP2-AS121Feb 20, 2020
BIN184Feb 20, 2020
BIVM-ERCC5114Feb 20, 2020
BLK99Feb 20, 2020
BLM75Feb 20, 2020
BLOC1S1-RDH529Feb 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
BOLA312Feb 20, 2020
BORCS86Feb 20, 2020
BORCS8-MEF2B6Feb 20, 2020
BPNT2172Feb 20, 2020
BPTF1Dec 14, 2020
BRAF96Dec 16, 2021
BRCA1145Feb 20, 2020
BRCA2450Feb 20, 2020
BRIP1180Dec 14, 2020
BRPF11Dec 14, 2020
BRWD3104Dec 16, 2021
BSCL276Feb 20, 2020
BSND41Feb 20, 2020
BTD27Feb 1, 2019
BTK40Dec 16, 2021
C10orf10577Feb 20, 2020
C10orf5564Feb 20, 2020
C11orf65136Aug 9, 2021
C12orf2935Feb 20, 2020
C12orf4325Feb 20, 2020
C12orf572Dec 20, 2021
C14orf3932Feb 20, 2020
C17orf10737Feb 20, 2020
C19orf12140Apr 1, 2020
C1QTNF3-AMACR87Feb 20, 2020
C1QTNF5273Feb 20, 2020
C1orf16711Oct 18, 2016
C2214Feb 20, 2020
C2-AS122Feb 20, 2020
C2orf8851Feb 20, 2020
C3382Feb 20, 2020
C3orf804Feb 20, 2020
C4orf462Oct 18, 2016
C9orf7286Feb 20, 2020
CA230Feb 20, 2020
CA3-AS17Feb 20, 2020
CA430Feb 20, 2020
CABP4123Feb 20, 2020
CACNA1A9Dec 20, 2021
CACNA1B1Aug 9, 2021
CACNA1C25Aug 9, 2021
CACNA1C-AS12Oct 18, 2016
CACNA1D1Dec 14, 2020
CACNA1E1Dec 14, 2020
CACNA1S238Feb 20, 2020
CACNA2D4174Feb 20, 2020
CACNB220Oct 18, 2016
CACNB4250Feb 20, 2020
CAD2Dec 14, 2020
CAMK2B1Dec 20, 2021
CAMK2G1Apr 1, 2020
CAMK41Oct 7, 2021
CAMTA11Dec 20, 2021
CANT1102Feb 20, 2020
CAPN3137Dec 14, 2020
CARD141Feb 1, 2019
CARD966Feb 20, 2020
CASD120Aug 9, 2021
CASK2Dec 20, 2021
CASP10121Feb 20, 2020
CASP857Feb 20, 2020
CASQ2147Feb 20, 2020
CASR248Feb 20, 2020
CATIP-AS266Feb 20, 2020
CATSPER171Feb 20, 2020
CAV3109Dec 20, 2021
CAVIN163Feb 20, 2020
CBARP4Feb 20, 2020
CBL261Dec 14, 2020
CBLIF31Feb 20, 2020
CBR455Feb 20, 2020
CBS88Feb 20, 2020
CC2D2A267Feb 20, 2020
CCBE1216Feb 20, 2020
CCDC10345Feb 20, 2020
CCDC126Feb 20, 2020
CCDC14014Feb 20, 2020
CCDC333Oct 18, 2016
CCDC39116Feb 20, 2020
CCDC40177Feb 20, 2020
CCN620Feb 20, 2020
CCNF1Feb 20, 2020
CCNH91Dec 16, 2021
CCT5100Feb 20, 2020
CD1944Feb 20, 2020
CD2AP131Feb 20, 2020
CD3693Feb 20, 2020
CD3D17Feb 20, 2020
CD3E33Feb 20, 2020
CD3G32Feb 20, 2020
CD4036Feb 20, 2020
CD4661Feb 20, 2020
CD741Oct 18, 2016
CD9611Feb 1, 2019
CDAN1146Feb 20, 2020
CDC637Feb 20, 2020
CDC73315Feb 20, 2020
CDCA7L25Feb 20, 2020
CDH1110Feb 20, 2020
CDH231060Dec 16, 2021
CDH23-AS130Feb 20, 2020
CDH3112Feb 20, 2020
CDHR1169Feb 20, 2020
CDK440Feb 20, 2020
CDK5RAP2118Feb 20, 2020
CDKN1B72Feb 20, 2020
CDKN1C1Dec 14, 2020
CDON255Feb 20, 2020
CENPJ237Feb 20, 2020
CENPL4Feb 20, 2020
CEP12815Feb 20, 2020
CEP152211Feb 20, 2020
CEP290715Feb 20, 2020
CEP41139Feb 20, 2020
CEP85L38Dec 20, 2021
CERKL87Feb 20, 2020
CETP54Feb 20, 2020
CFAP11910Oct 18, 2016
CFAP1261Oct 18, 2016
CFAP418118Feb 20, 2020
CFAP418-AS113Feb 20, 2020
CFAP9217Feb 20, 2020
CFB193Feb 20, 2020
CFH333Feb 20, 2020
CFHR575Feb 20, 2020
CFI59Feb 20, 2020
CFL242Feb 20, 2020
CFTR169Jul 16, 2020
CFTR-AS122Feb 20, 2020
CGREF143Feb 20, 2020
CHD31Aug 9, 2021
CHD7252Dec 20, 2021
CHD83Dec 14, 2020
CHEK247Dec 14, 2020
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
CHRNE113Dec 16, 2021
CHRNG180Feb 20, 2020
CHROMR25Feb 20, 2020
CHST3635Feb 20, 2020
CHST6193Feb 20, 2020
CIAPIN15Feb 20, 2020
CIC2Dec 14, 2020
CIITA146Feb 20, 2020
CLASP13Oct 7, 2021
CLCC117Feb 20, 2020
CLCN186Dec 20, 2021
CLCN41Dec 20, 2021
CLCN5108Feb 20, 2020
CLCN7152Feb 20, 2020
CLDN1454Feb 20, 2020
CLDN14-AS154Feb 20, 2020
CLDN1677Feb 20, 2020
CLDN1967Feb 20, 2020
CLN391Feb 20, 2020
CLN582Feb 20, 2020
CLN682Feb 20, 2020
CLRN160Feb 20, 2020
CLRN1-AS111Feb 20, 2020
CLTC2Dec 16, 2021
CMYA52Oct 7, 2021
CNGA153Feb 20, 2020
CNGA392Dec 14, 2020
CNGB1210Feb 20, 2020
CNGB3222Feb 20, 2020
CNNM259Dec 14, 2020
CNNM485Feb 20, 2020
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
COL11A1362Dec 14, 2020
COL11A2544Feb 20, 2020
COL17A1168Feb 20, 2020
COL18A1206Feb 20, 2020
COL1A1472Dec 16, 2021
COL1A2244Aug 9, 2021
COL1A2-AS112Feb 20, 2020
COL2A1249Dec 20, 2021
COL3A1116Feb 20, 2020
COL4A1476Dec 20, 2021
COL4A2226Feb 20, 2020
COL4A2-AS127Feb 20, 2020
COL4A2-AS214Feb 20, 2020
COL4A3191Feb 20, 2020
COL4A4252Feb 20, 2020
COL4A51Aug 9, 2021
COL5A1282Feb 20, 2020
COL5A2202Feb 20, 2020
COL6A1200Dec 16, 2021
COL6A2368Jul 16, 2020
COL6A3327Feb 20, 2020
COL7A1251Feb 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
COQ8A149Feb 20, 2020
COQ941Feb 20, 2020
COX10170Feb 20, 2020
COX10-DT2Oct 18, 2016
COX15124Feb 20, 2020
COX4I21Oct 18, 2016
COX6B19Feb 20, 2020
CP162Feb 20, 2020
CPA655Feb 20, 2020
CPLANE1215Aug 9, 2021
CPLANE1-AS14Feb 20, 2020
CPO92Feb 20, 2020
CPOX80Feb 20, 2020
CPS1128Apr 1, 2020
CPT261Feb 20, 2020
CRB1223Feb 20, 2020
CREBBP5Aug 9, 2021
CRPPA214Feb 20, 2020
CRPPA-AS111Feb 20, 2020
CRTAP185Feb 20, 2020
CRX411Feb 20, 2020
CRYAA29Feb 20, 2020
CRYAB45Feb 20, 2020
CRYBA428Feb 20, 2020
CRYBB128Feb 20, 2020
CRYBB341Feb 20, 2020
CRYGD26Feb 20, 2020
CSF1R132Dec 16, 2021
CSNK2A11Dec 14, 2020
CSNK2B2Aug 9, 2021
CSRP344Feb 20, 2020
CSRP3-AS118Feb 20, 2020
CSTB27Feb 20, 2020
CTC1229Feb 20, 2020
CTF13Oct 18, 2016
CTH54Feb 20, 2020
CTNNB13Dec 20, 2021
CTNS321Feb 20, 2020
CTNS-AS133Feb 20, 2020
CTRC35Feb 20, 2020
CTSA47Feb 20, 2020
CTSC97Dec 14, 2020
CTSD73Feb 20, 2020
CTSK19Feb 20, 2020
CTXN2-AS120Feb 20, 2020
CUBN345Feb 20, 2020
CUL3182Feb 20, 2020
CUL4B1Dec 16, 2021
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-AS19Feb 20, 2020
CYP11A131Feb 20, 2020
CYP11B1238Feb 20, 2020
CYP11B2276Feb 20, 2020
CYP17A130Feb 20, 2020
CYP17A1-AS13Feb 20, 2020
CYP19A190Feb 20, 2020
CYP1B1252Feb 20, 2020
CYP21A21Dec 14, 2020
CYP24A199Feb 20, 2020
CYP27A159Feb 20, 2020
CYP27B138Feb 20, 2020
CYP4F2266Feb 20, 2020
CYP4V2291Feb 20, 2020
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
DDB237Feb 20, 2020
DDC55Feb 20, 2020
DDC-AS18Feb 20, 2020
DDOST59Feb 20, 2020
DDR255Feb 20, 2020
DDX3X2Dec 16, 2021
DDX411Dec 16, 2021
DENND1174Feb 20, 2020
DENND4A19Feb 20, 2020
DES170Feb 20, 2020
DES-LCR11Feb 20, 2020
DGUOK33Feb 20, 2020
DGUOK-AS16Feb 20, 2020
DHCR2492Feb 20, 2020
DHCR7103Feb 20, 2020
DHDDS66Feb 20, 2020
DHH30Feb 20, 2020
DHODH76Feb 20, 2020
DHTKD12Dec 16, 2021
DIAPH1119Feb 20, 2020
DIAPH31Dec 14, 2020
DICER1174Feb 20, 2020
DIPK1A15Feb 20, 2020
DIS3L299Feb 20, 2020
DKC11Dec 14, 2020
DLAT1Feb 1, 2019
DLD223Feb 20, 2020
DLG47Aug 9, 2021
DLL3133Feb 20, 2020
DLX369Feb 20, 2020
DMD214Dec 16, 2021
DMP166Feb 20, 2020
DNAAF193Feb 20, 2020
DNAAF1136Feb 20, 2020
DNAAF285Feb 20, 2020
DNAAF3118Feb 20, 2020
DNAAF3-AS171Feb 20, 2020
DNAH11323Dec 16, 2021
DNAH5434Feb 20, 2020
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
DNM11Dec 16, 2021
DNM1L81Feb 20, 2020
DNM2190Feb 20, 2020
DNMT1107Feb 20, 2020
DNMT3A1Aug 9, 2021
DNMT3B114Feb 20, 2020
DOCK8204Feb 20, 2020
DOCK8-AS19Feb 20, 2020
DOLK43Feb 20, 2020
DPAGT148Feb 20, 2020
DPF21Dec 16, 2021
DPM125Dec 16, 2021
DPM232Feb 20, 2020
DPM32Feb 20, 2020
DPYD100Feb 20, 2020
DPYD-AS112Feb 20, 2020
DPYS47Feb 20, 2020
DRD323Feb 20, 2020
DSC2121Feb 20, 2020
DSCAS18Feb 20, 2020
DSG1-AS1100Feb 20, 2020
DSG2189Feb 20, 2020
DSG2-AS1114Feb 20, 2020
DSG4100Feb 20, 2020
DSP617Dec 14, 2020
DSP-AS157Feb 20, 2020
DST97Aug 9, 2021
DTNA5Oct 18, 2016
DTNBP17Feb 1, 2019
DUOX2212Feb 20, 2020
DUS4L16Feb 20, 2020
DUS4L-BCAP2916Feb 20, 2020
DUSP294Oct 18, 2016
DYM83Feb 20, 2020
DYM-AS110Oct 18, 2016
DYNC1H1371Dec 16, 2021
DYNC2H1420Feb 20, 2020
DYNC2LI156Feb 20, 2020
DYRK1A1Jul 19, 2021
DYSF429Feb 20, 2020
EARS286Feb 20, 2020
EBP1Dec 14, 2020
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
EGF126Feb 20, 2020
EGFR1Oct 18, 2016
EGILA18Feb 20, 2020
EGLN1156Feb 20, 2020
EGR232Feb 20, 2020
EHMT15Oct 18, 2016
EIF1AD5Feb 20, 2020
EIF2AK21Dec 20, 2021
EIF2AK373Feb 20, 2020
EIF2B148Feb 20, 2020
EIF2B247Feb 20, 2020
EIF2B344Feb 20, 2020
EIF2B444Feb 20, 2020
EIF2B546Feb 20, 2020
EIF2B5-DT7Oct 18, 2016
EIF3J4Feb 20, 2020
ELN212Feb 20, 2020
ELN-AS118Feb 20, 2020
ELOVL471Feb 20, 2020
ELP1155Feb 20, 2020
ELP4588Feb 20, 2020
EMC45Feb 20, 2020
EML310Feb 20, 2020
ENAM101Feb 20, 2020
ENG112Feb 20, 2020
ENO331Feb 20, 2020
ENPP1386Feb 20, 2020
ENTPD739Feb 20, 2020
EP30028Jul 16, 2020
EPAS1150Feb 20, 2020
EPB4253Feb 20, 2020
EPCAM3Oct 18, 2016
EPHA2109Feb 20, 2020
EPHA2-AS12Feb 20, 2020
EPOR54Feb 20, 2020
ERCC12Feb 1, 2019
ERCC2102Feb 20, 2020
ERCC359Feb 20, 2020
ERCC4162Feb 20, 2020
ERCC5114Feb 20, 2020
ERCC6572Feb 20, 2020
ERCC6-PGBD3121Feb 20, 2020
ERCC864Feb 20, 2020
ERCC8-AS13Feb 20, 2020
ESCO273Feb 20, 2020
ESR150Feb 20, 2020
ESR214Feb 20, 2020
ESRRB70Feb 20, 2020
ETFA30Feb 20, 2020
ETFDH44Feb 20, 2020
ETHE131Feb 20, 2020
EVC279Feb 20, 2020
EVC2152Feb 20, 2020
EXOSC340Feb 20, 2020
EXT157Feb 20, 2020
EXT294Feb 20, 2020
EYA1221Feb 20, 2020
EYA4197Feb 20, 2020
EYS231Dec 16, 2021
EZH26Dec 14, 2020
F1059Feb 20, 2020
F10-AS15Feb 20, 2020
F1185Feb 20, 2020
F11-AS142Feb 20, 2020
F12127Feb 20, 2020
F13A173Feb 20, 2020
F13B44Feb 20, 2020
F277Feb 20, 2020
F5905Feb 20, 2020
F7103Feb 20, 2020
F867Dec 14, 2020
F934Feb 20, 2020
FA2H67Feb 20, 2020
FAAH21Oct 7, 2021
FAH73Dec 16, 2021
FAM104A5Feb 20, 2020
FAM126A130Aug 9, 2021
FAM161A80Feb 20, 2020
FAM187A10Feb 20, 2020
FAM20A125Aug 9, 2021
FAM219B6Feb 20, 2020
FANCA202Dec 16, 2021
FANCB90Feb 20, 2020
FANCC116Feb 20, 2020
FANCD2123Dec 14, 2020
FANCD2OS38Feb 20, 2020
FANCE63Feb 20, 2020
FANCF76Feb 20, 2020
FANCG70Feb 20, 2020
FANCI182Dec 14, 2020
FANCL47Feb 20, 2020
FANCM4Oct 18, 2016
FAR11Dec 16, 2021
FAS84Aug 9, 2021
FASLG39Feb 20, 2020
FASTKD2156Feb 20, 2020
FBLN5114Feb 20, 2020
FBN11653Dec 16, 2021
FBN2273Dec 20, 2021
FBP152Feb 20, 2020
FBXL359Feb 20, 2020
FBXL813Feb 20, 2020
FBXO111Feb 20, 2020
FBXO281Aug 9, 2021
FBXO749Feb 20, 2020
FBXW111Aug 9, 2021
FBXW444Feb 20, 2020
FECH131Feb 20, 2020
FERMT1157Feb 20, 2020
FGA65Feb 20, 2020
FGB80Feb 20, 2020
FGD4175Feb 20, 2020
FGF1014Feb 20, 2020
FGF1460Feb 20, 2020
FGF23124Feb 20, 2020
FGF9103Feb 20, 2020
FGFR1555Dec 20, 2021
FGFR2520Dec 14, 2020
FGFR31Dec 20, 2021
FGG27Aug 9, 2021
FH147Aug 9, 2021
FHL11Dec 16, 2021
FHOD31Apr 1, 2020
FIG4122Aug 9, 2021
FIGLA22Feb 20, 2020
FKBP1072Dec 14, 2020
FKTN232Feb 20, 2020
FKTN-AS12Feb 20, 2020
FLCN189Feb 20, 2020
FLG5Dec 20, 2021
FLG-AS11Dec 14, 2020
FLNA2Aug 9, 2021
FLNB259Dec 14, 2020
FLNB-AS121Feb 20, 2020
FLVCR1149Apr 1, 2020
FLVCR269Feb 20, 2020
FLVCR2-AS117Feb 20, 2020
FMO355Feb 20, 2020
FOLR117Feb 20, 2020
FOXF111Oct 18, 2016
FOXH166Feb 20, 2020
FOXI154Feb 20, 2020
FOXN169Feb 20, 2020
FOXP149Oct 18, 2016
FOXP2124Aug 9, 2021
FOXRED150Feb 20, 2020
FRA11B9Feb 20, 2020
FRAS1442Feb 20, 2020
FREM1281Feb 20, 2020
FREM2367Feb 20, 2020
FRMD741Feb 20, 2020
FSHB25Feb 20, 2020
FSHR109Feb 20, 2020
FTCD57Feb 1, 2019
FTCD-AS11Oct 18, 2016
FTH1116Feb 20, 2020
FTL97Feb 20, 2020
FTO115Feb 20, 2020
FUCA138Feb 20, 2020
FUS145Aug 9, 2021
FXYD221Feb 20, 2020
FXYD6-FXYD221Feb 20, 2020
FYCO1205Feb 20, 2020
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TEK98Feb 20, 2020
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TERT214Feb 20, 2020
TET34Dec 16, 2021
TF59Feb 20, 2020
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TFPT4Oct 18, 2016
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TG263Feb 20, 2020
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TGFB310Dec 14, 2020
TGFBI81Feb 20, 2020
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TGIF121Feb 20, 2020
TGM179Feb 20, 2020
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TGM680Feb 20, 2020
TH106Feb 20, 2020
THAP146Feb 20, 2020
THBD80Feb 20, 2020
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
TLK22Aug 9, 2021
TM2D21Feb 20, 2020
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TMCO613Feb 20, 2020
TMEM1071Jul 16, 2020
TMEM120A3Feb 20, 2020
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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
TNFRSF11B55Feb 20, 2020
TNFRSF13B23Oct 18, 2016
TNFRSF13C26Feb 20, 2020
TNFRSF1A61Feb 20, 2020
TNFRSF255Feb 20, 2020
TNFSF1160Feb 20, 2020
TNNC122Feb 20, 2020
TNNI230Feb 20, 2020
TNNI3237Feb 20, 2020
TNNT145Feb 20, 2020
TNNT2116Feb 20, 2020
TNNT356Feb 20, 2020
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TNS22Oct 7, 2021
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TNXB4Dec 14, 2020
TOE15Feb 20, 2020
TOMT37Feb 20, 2020
TOP2B1Dec 16, 2021
TOPORS77Feb 20, 2020
TOR1A49Feb 20, 2020
TP5379Feb 20, 2020
TP63307Dec 14, 2020
TPH242Feb 20, 2020
TPI141Feb 20, 2020
TPM166Feb 20, 2020
TPM256Feb 20, 2020
TPM3286Feb 20, 2020
TPMT6Oct 18, 2016
TPO112Feb 20, 2020
TPP181Feb 20, 2020
TRAF71Dec 20, 2021
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
TRIO6Dec 20, 2021
TRIP11177Feb 20, 2020
TRMT10B16Feb 20, 2020
TRMU73Feb 20, 2020
TRPC695Feb 20, 2020
TRPM1145Feb 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
TSC1533Apr 1, 2020
TSC2242Feb 20, 2020
TSEN278Feb 20, 2020
TSEN3462Feb 20, 2020
TSEN5465Feb 20, 2020
TSFM45Feb 20, 2020
TSHB6Feb 20, 2020
TSHR185Feb 20, 2020
TSHZ117Oct 18, 2016
TSPAN162Feb 20, 2020
TSPAN1239Feb 20, 2020
TSPAN3126Feb 20, 2020
TTBK282Feb 20, 2020
TTC1462Feb 20, 2020
TTC1996Apr 1, 2020
TTC21B262Feb 20, 2020
TTC21B-AS112Feb 20, 2020
TTC883Feb 20, 2020
TTN9140Dec 16, 2021
TTN-AS15328Dec 16, 2021
TTPA59Feb 20, 2020
TTR29Jul 16, 2020
TUBB1Dec 14, 2020
TUBB11Dec 16, 2021
TUBB2A1Aug 9, 2021
TUBB2B1Dec 20, 2021
TUBB32Dec 14, 2020
TUBB4A82Dec 20, 2021
TUBB612Feb 20, 2020
TUFM57Feb 20, 2020
TULP188Feb 20, 2020
TUSC3120Feb 20, 2020
TWNK304Feb 20, 2020
TYK2125Feb 20, 2020
TYMP141Feb 20, 2020
TYR40Jul 16, 2020
TYROBP19Feb 20, 2020
TYRP177Feb 20, 2020
UBA135Feb 20, 2020
UBE3B1Jul 16, 2020
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
UNC802Jul 16, 2020
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
USH2A289Feb 20, 2020
USH2A-AS157Feb 20, 2020
USH2A-AS21Oct 18, 2016
USP73Oct 7, 2021
USP9X3Dec 16, 2021
UTP14C27Feb 20, 2020
UTP438Feb 20, 2020
VANGL1435Feb 20, 2020
VAPB350Feb 20, 2020
VARS12Aug 9, 2021
VCAN609Feb 20, 2020
VCAN-AS1297Feb 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
VPS13B290Feb 20, 2020
VPS13D4Dec 16, 2021
VPS33B59Feb 20, 2020
VPS3562Feb 20, 2020
VRK126Feb 20, 2020
VRK222Feb 20, 2020
VSX169Feb 20, 2020
VSX2163Feb 20, 2020
VWF140Aug 9, 2021
WAC1Dec 14, 2020
WASHC577Feb 20, 2020
WASHC5-AS14Feb 20, 2020
WBP2NL38Feb 20, 2020
WDPCP72Feb 20, 2020
WDR19185Feb 20, 2020
WDR35342Feb 20, 2020
WDR35-DT33Feb 20, 2020
WDR3613Oct 18, 2016
WDR4142Feb 20, 2020
WDR62129Feb 20, 2020
WDR72204Feb 20, 2020
WFS1422Dec 16, 2021
WHRN257Feb 20, 2020
WNK1245Feb 20, 2020
WNK498Feb 20, 2020
WNT10A214Feb 20, 2020
WNT5A17Dec 14, 2020
WRAP5360Feb 20, 2020
WRN142Aug 9, 2021
WT1368Feb 20, 2020
WWOX2Dec 16, 2021
XDH181Feb 20, 2020
XIAP113Feb 20, 2020
XPA32Feb 20, 2020
XPC147Feb 20, 2020
XPNPEP3165Feb 20, 2020
XPR11Aug 9, 2021
YARS164Aug 9, 2021
YARS2131Feb 20, 2020
YME1L13Oct 18, 2016
YWHAG1Dec 16, 2021
ZAP7053Feb 20, 2020
ZBTB182Dec 16, 2021
ZC4H22Dec 16, 2021
ZDHHC2456Feb 20, 2020
ZEB220Oct 18, 2016
ZFP5728Feb 20, 2020
ZFYVE26231Feb 20, 2020
ZFYVE2773Feb 20, 2020
ZIC368Feb 20, 2020
ZMPSTE24101Feb 20, 2020
ZNF27661Feb 20, 2020
ZNF412Oct 18, 2016
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 syndrome120Feb 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 deficiency75Feb 20, 2020
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 Disorders3Feb 1, 2019
ABCA4-Related Disorders213Feb 20, 2020
ABCC9-Related Disorders2Feb 20, 2020
ACTA1-related myopathies1Dec 14, 2020
ACTA2-Related Disorders1Feb 1, 2019
ACTB-related disorders2Dec 14, 2020
ADAR-Related Disorders1Feb 1, 2019
ADCK3-Related Disorders2Feb 1, 2019
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3Dec 20, 2021
AGK-Related Disorders1Feb 1, 2019
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Aug 9, 2021
AIPL1-Related Disorders3Feb 1, 2019
ALDH18A1 deficiency3Dec 20, 2021
ALDH18A1-related de Barsy syndrome65Feb 20, 2020
ALG1-CDG2Dec 16, 2021
ALG11-CDG42Feb 20, 2020
ALG12-congenital disorder of glycosylation71Feb 20, 2020
ALG3-CDG37Feb 20, 2020
ALG8 congenital disorder of glycosylation34Feb 20, 2020
ALG9 congenital disorder of glycosylation63Feb 20, 2020
ALS2-Related Disorders114Feb 20, 2020
ANKH-Related Disorders1Feb 1, 2019
ANO5-Related Disorders7Feb 1, 2019
ANO5-Related Muscle Diseases135Feb 20, 2020
APC-Associated Polyposis Disorders194Feb 20, 2020
APOB-Related Disorders4Feb 1, 2019
ARID1B-related disorder2Dec 20, 2021
ASAH1-related disorders1Dec 14, 2020
ASH1L-related neurodevelopmental disorders4Dec 20, 2021
ATM-related disorders3Aug 9, 2021
ATP13A2-related disorders2Jul 16, 2020
ATP1A3-associated neurological disorder1Jul 16, 2020
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 deficiency67Feb 20, 2020
Acyl-CoA oxidase deficiency178Feb 20, 2020
Adams-Oliver syndrome5Oct 18, 2016
Adenine phosphoribosyltransferase deficiency31Feb 20, 2020
Adenosine kinase deficiency30Feb 20, 2020
Adenylosuccinate lyase deficiency29Feb 20, 2020
Adrenoleukodystrophy72Dec 14, 2020
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 9122Feb 20, 2020
Age-related cortical cataract4Oct 18, 2016
Agenesis of the corpus callosum with peripheral neuropathy167Feb 20, 2020
Aicardi Goutieres syndrome23Oct 18, 2016
Aicardi-Goutieres syndrome 119Feb 20, 2020
Aicardi-Goutieres syndrome 239Feb 20, 2020
Aicardi-Goutieres syndrome 365Feb 20, 2020
Aicardi-Goutieres syndrome 435Feb 20, 2020
Aicardi-Goutieres syndrome 549Feb 20, 2020
Aicardi-Goutieres syndrome 71Jul 16, 2020
Aicardi-Goutieres syndrome 92Dec 20, 2021
Alagille syndrome due to a JAG1 point mutation1Dec 14, 2020
Alagille syndrome due to a NOTCH2 point mutation1Dec 14, 2020
Alexander disease7Aug 9, 2021
Alkaptonuria58Feb 20, 2020
Alopecia universalis2Oct 18, 2016
Alopecia universalis congenita161Feb 20, 2020
Alpha-1-antitrypsin deficiency99Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 161Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 262Feb 20, 2020
Alpha-methylacyl-CoA racemase deficiency78Feb 20, 2020
Alport syndrome441Aug 9, 2021
Alstrom syndrome56Feb 20, 2020
Alternating hemiplegia of childhood11Oct 18, 2016
Alternating hemiplegia of childhood 1123Feb 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 2A256Feb 20, 2020
Amelogenesis imperfecta hypomaturation type 2A3128Feb 20, 2020
Amish lethal microcephaly31Feb 20, 2020
Amyloidogenic transthyretin amyloidosis29Jul 16, 2020
Amyloidosis10Oct 18, 2016
Amyotrophic Lateral Sclerosis, Dominant77Oct 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 1158Feb 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 138Feb 20, 2020
Aniridia, Cerebellar Ataxia, And Intellectual Disability78Oct 18, 2016
Annular epidermolytic ichthyosis1Dec 14, 2020
Anophthalmia13Oct 18, 2016
Anophthalmia-microphthalmia syndrome149Feb 20, 2020
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 10134Feb 20, 2020
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 touch3Dec 14, 2020
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 syndrome264Feb 20, 2020
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, 399Feb 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
Atrichia with papular lesions163Feb 20, 2020
Atypical Gaucher Disease41Oct 18, 2016
Atypical Gaucher disease due to saposin C deficiency68Feb 20, 2020
Atypical hemolytic-uremic syndrome32Oct 18, 2016
Atypical hemolytic-uremic syndrome with B factor anomaly51Feb 20, 2020
Atypical hemolytic-uremic syndrome with C3 anomaly121Feb 20, 2020
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, congenital17Oct 18, 2016
Auriculocondylar syndrome7Jul 16, 2020
Auriculocondylar syndrome 11Dec 14, 2020
Auriculocondylar syndrome 2101Feb 20, 2020
Autism spectrum disorder80Dec 14, 2020
Autism, susceptibility to, 181Jul 16, 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 congenital benign spinal muscular atrophy106Feb 20, 2020
Autosomal dominant distal renal tubular acidosis122Feb 20, 2020
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome171Feb 20, 2020
Autosomal dominant hypocalcemia 159Feb 20, 2020
Autosomal dominant hypophosphatemic rickets55Feb 20, 2020
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Dec 16, 2021
Autosomal dominant keratitis125Feb 20, 2020
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)58Feb 20, 2020
Autosomal dominant macrothrombocytopenia TUBB1-related1Dec 16, 2021
Autosomal dominant medullary cystic kidney disease with hyperuricemia52Feb 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 22169Feb 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 3A67Feb 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 form109Feb 20, 2020
Autosomal dominant polycystic kidney disease5Oct 18, 2016
Autosomal dominant pseudohypoaldosteronism type 1296Dec 14, 2020
Autosomal dominant striatal neurodegeneration type 188Feb 20, 2020
Autosomal dominant vitreoretinochoroidopathy60Feb 20, 2020
Autosomal recessive DOPA responsive dystonia78Feb 20, 2020
Autosomal recessive Robinow syndrome117Feb 20, 2020
Autosomal recessive ataxia due to ubiquinone deficiency82Feb 20, 2020
Autosomal recessive ataxia, Beauce type551Feb 20, 2020
Autosomal recessive cerebellar ataxia124Feb 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 267Feb 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 acidosis89Feb 20, 2020
Autosomal recessive distal spinal muscular atrophy 1136Feb 20, 2020
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 2A98Dec 14, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D2Oct 18, 2016
Autosomal recessive limb-girdle muscular dystrophy type 2G19Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2J1775Feb 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 lower motor neuron disease with childhood onset126Feb 20, 2020
Autosomal recessive multiple pterygium syndrome102Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 12372Dec 16, 2021
Autosomal recessive nonsyndromic hearing loss 1A72Aug 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 3298Feb 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 37169Feb 20, 2020
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 77222Feb 20, 2020
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 pseudohypoaldosteronism type 1215Feb 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
Axenfeld-Rieger syndrome2Oct 18, 2016
Axenfeld-Rieger syndrome type 161Feb 20, 2020
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1Dec 16, 2021
B9D1-Related Disorders1Feb 1, 2019
BAP1-related tumor predisposition syndrome73Feb 20, 2020
BBS2-Related Disorders1Feb 1, 2019
BCL11A-related intellectual disability1Aug 9, 2021
BCOR-related disorders2Aug 9, 2021
BCS1L-Related Disorders4Feb 1, 2019
BEST1-Related Disorders1Feb 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 Disorders6Feb 1, 2019
BRIP1-Related Disorders6Dec 14, 2020
BRWD3-related X-linked syndromic intellectual disability1Dec 14, 2020
Baraitser-Winter syndrome 11Dec 20, 2021
Bardet-Biedl syndrome57Oct 18, 2016
Bardet-Biedl syndrome 172Feb 20, 2020
Bardet-Biedl syndrome 1072Feb 20, 2020
Bardet-Biedl syndrome 1164Feb 20, 2020
Bardet-Biedl syndrome 1261Feb 20, 2020
Bardet-Biedl syndrome 1358Feb 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 456Feb 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 syndrome117Feb 20, 2020
Bartter disease type 196Feb 20, 2020
Bartter disease type 239Feb 20, 2020
Bartter disease type 4a40Feb 20, 2020
Bartter syndrome1Oct 18, 2016
Basal laminar drusen83Feb 20, 2020
Batten-Turner congenital myopathy85Feb 20, 2020
Beaded hair79Feb 20, 2020
Beare-Stevenson cutis gyrata syndrome99Feb 20, 2020
Beck-Fahrner syndrome2Dec 16, 2021
Behavior disorder113Feb 20, 2020
Benign Neonatal Epilepsy95Oct 18, 2016
Benign hereditary chorea35Feb 20, 2020
Benign neonatal seizures108Oct 18, 2016
Benign scapuloperoneal muscular dystrophy with cardiomyopathy44Feb 20, 2020
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 deficiency27Feb 1, 2019
Birk-Barel Intellectual Disability Dysmorphism Syndrome1Oct 18, 2016
Birk-Barel syndrome3Dec 16, 2021
Blau syndrome132Jul 16, 2020
Bloom syndrome75Feb 20, 2020
Bohring-Opitz syndrome6Oct 18, 2016
Bone Mineral Density Variation2Oct 18, 2016
Bone Paget disease22Oct 18, 2016
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 small vessel disease 1 with or without ocular anomalies228Dec 20, 2021
Brain-lung-thyroid syndrome35Feb 20, 2020
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 neoplasm29Oct 18, 2016
Breast-ovarian cancer, familial, susceptibility to, 1132Feb 20, 2020
Breast-ovarian cancer, familial, susceptibility to, 2204Feb 20, 2020
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
Budd-Chiari syndrome206Feb 20, 2020
Bullous ichthyosiform erythroderma39Feb 20, 2020
C syndrome11Feb 1, 2019
C2-related disorders1Feb 1, 2019
C3 deficiency6Oct 18, 2016
C8orf37-Related Disorders2Apr 5, 2019
CACNA1A-related disorders6Dec 20, 2021
CACNA1B-related neurodevelopmental disorder1Aug 9, 2021
CACNA1D-related neurodevelopmental and endocrine disorders1Dec 14, 2020
CACNB4-Related Disorders1Feb 1, 2019
CAMK2G-related syndromic intellectual disability1Apr 1, 2020
CASK-related disorders1Dec 20, 2021
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia1Dec 14, 2020
CBL-related disorder229Feb 20, 2020
CC2D2A-Related Disorders37Feb 20, 2020
CDH23-Related Disorders99Feb 1, 2019
CEDNIK syndrome147Feb 20, 2020
CENPJ-Related Disorders1Feb 1, 2019
CEP152-Related Disorders7Feb 1, 2019
CEP290-Related Disorders5Feb 1, 2019
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II154Feb 20, 2020
CFH-Related Disorders1Feb 1, 2019
CFI-Related Disorders1Feb 20, 2020
CFTR-related disorders132Jul 16, 2020
CHARGE association24Aug 9, 2021
CHD7 disorder1Dec 20, 2021
CHD7-related disorders1Dec 14, 2020
CHEK2-Related Cancer Susceptibility41Dec 14, 2020
CHIME syndrome24Feb 20, 2020
CHOPRA-AMIEL-GORDON SYNDROME1Dec 16, 2021
CHRNG-Related Disorders5Feb 1, 2019
CIC-related neurodevelopmental disorders2Dec 14, 2020
CLCN4-related X-linked intellectual disability syndrome1Dec 20, 2021
CNGB3-Related Disorders2Feb 1, 2019
CNNM2-related neurodevelopmental disorder and hypomagnesemia1Dec 14, 2020
COFS syndrome37Oct 18, 2016
COG1 congenital disorder of glycosylation64Feb 20, 2020
COG5-CDG116Feb 20, 2020
COG6-CGD73Feb 20, 2020
COG7 congenital disorder of glycosylation57Feb 20, 2020
COG8-CDG41Feb 20, 2020
COL11A1-Related Disorders2Feb 1, 2019
COL11A2-Related Disorders1Feb 1, 2019
COL1A2-Related Disorders3Aug 9, 2021
COL2A1-related disorders3Dec 20, 2021
COL4A3-Related Disorders3Feb 1, 2019
COL9A1-Related Disorders1Feb 1, 2019
COL9A2-Related Disorders1Feb 1, 2019
COMP-related disorders3Feb 20, 2020
CRB1-Related Disorders7Feb 1, 2019
CSNK2A1-related neurodevelopmental syndrome1Dec 14, 2020
CSNK2B-related intellectual disability with or without epilepsy2Aug 9, 2021
CSRP3-Related Disorders1Feb 1, 2019
CTNNB1-related syndromic intellectual disability3Dec 20, 2021
CTSC-Related Disorders3Dec 14, 2020
CUL4B-related X-linked intellectual disability1Dec 16, 2021
CYFIP2-related neurodevelopmental disorders1Jul 16, 2020
CYP1B1-Related Disorders4Apr 5, 2019
CYP4V2-Related Disorders1Feb 1, 2019
Café-au-lait macules with pulmonary stenosis160Feb 20, 2020
Camptomelic dysplasia12Jul 16, 2020
Candidiasis, familial, 618Feb 20, 2020
Capillary malformation-arteriovenous malformation 171Dec 16, 2021
Carcinoma of pancreas11Oct 18, 2016
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
Cardiomyopathy, familial restrictive, 128Feb 20, 2020
Cardiomyopathy, familial restrictive, 323Feb 20, 2020
Cardiomyopathy, left ventricular noncompaction201Oct 18, 2016
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 dysgenesis syndrome26Oct 18, 2016
Caudal regression sequence177Feb 20, 2020
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
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
Cerebrofaciothoracic dysplasia1Dec 14, 2020
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 syndrome19Oct 18, 2016
Charcot-Marie-Tooth disease1Aug 9, 2021
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 492Jul 16, 2020
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, with vocal cord paresis, autosomal recessive83Feb 20, 2020
Charcot-Marie-Tooth disease, type I77Feb 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 ataxia261Feb 20, 2020
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 disease59Feb 20, 2020
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
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 homocystinuria84Feb 20, 2020
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-Siris syndrome97Jul 16, 2020
Coffin-Siris syndrome 71Dec 16, 2021
Cohen syndrome290Feb 20, 2020
Collagen 6-related myopathy740Dec 16, 2021
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome14Oct 18, 2016
Colorectal cancer3Oct 18, 2016
Colorectal cancer, hereditary nonpolyposis, type 268Feb 20, 2020
Colorectal cancer, hereditary nonpolyposis, type 476Feb 20, 2020
Colorectal cancer, hereditary nonpolyposis, type 580Feb 20, 2020
Colorectal cancer, hereditary nonpolyposis, type 7137Feb 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 deficiency27Feb 20, 2020
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, Dominant23Oct 18, 2016
Common Variable Immune Deficiency, Recessive5Oct 18, 2016
Complement component 2 deficiency72Feb 20, 2020
Complement component 3 deficiency121Feb 20, 2020
Complex neurodevelopmental disorder3Dec 16, 2021
Cone dystrophy22Oct 18, 2016
Cone dystrophy 349Feb 20, 2020
Cone dystrophy 477Feb 20, 2020
Cone dystrophy with supernormal rod response89Feb 20, 2020
Cone-Rod Dystrophy, Dominant72Oct 18, 2016
Cone-Rod Dystrophy, Recessive155Oct 18, 2016
Cone-rod dystrophy114Feb 20, 2020
Cone-rod dystrophy 1059Feb 20, 2020
Cone-rod dystrophy 1167Feb 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 related260Feb 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, Recessive56Oct 18, 2016
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 insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency30Feb 20, 2020
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 glycosylation348Feb 20, 2020
Congenital disorder of glycosylation type 1C61Feb 20, 2020
Congenital disorder of glycosylation type 1E22Dec 16, 2021
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 173Feb 20, 2020
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 hyperammonemia, type I128Apr 1, 2020
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 ophthalmoplegia409Dec 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 deficiency263Feb 20, 2020
Congenital muscular dystrophy with intellectual disability and severe epilepsy32Feb 20, 2020
Congenital muscular hypertrophy-cerebral syndrome85Dec 14, 2020
Congenital myasthenic syndrome222Dec 16, 2021
Congenital myasthenic syndrome 1149Aug 9, 2021
Congenital myasthenic syndrome 12159Feb 20, 2020
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 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 sensory neuropathy with selective loss of small myelinated fibers20Feb 20, 2020
Congenital stationary night blindness 1A29Feb 20, 2020
Congenital stationary night blindness 1C141Feb 20, 2020
Congenital stationary night blindness 1D105Feb 20, 2020
Congenital stationary night blindness 1E175Feb 20, 2020
Congenital stationary night blindness 1F55Feb 20, 2020
Congenital stationary night blindness 1G1Feb 1, 2019
Congenital stationary night blindness autosomal dominant 176Feb 20, 2020
Congenital stationary night blindness autosomal dominant 2123Feb 20, 2020
Congenital stationary night blindness autosomal dominant 350Feb 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, Recessive25Oct 18, 2016
Corneal dystrophy295Feb 20, 2020
Cornelia de Lange syndrome 198Dec 14, 2020
Cornelia de Lange syndrome 359Feb 20, 2020
Cornelia de Lange syndrome 41Jul 16, 2020
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
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-deafness-hand syndrome41Feb 20, 2020
Craniometadiaphyseal dysplasia wormian bone type29Oct 18, 2016
Craniometaphyseal dysplasia, autosomal dominant193Feb 20, 2020
Craniosynostosis 258Feb 20, 2020
Craniosynostosis syndrome240Feb 20, 2020
Creatine transporter deficiency1Dec 16, 2021
Crigler-Najjar syndrome42Feb 20, 2020
Crohn disease5Oct 18, 2016
Crouzon syndrome99Feb 20, 2020
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 anomalies82Feb 20, 2020
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 fibrosis36Apr 5, 2019
Cystic leukoencephalopathy without megalencephaly45Apr 1, 2020
Cystinosis13Oct 18, 2016
Cystinuria150Feb 20, 2020
Cytochrome-c oxidase deficiency disease395Feb 20, 2020
D-2-hydroxyglutaric aciduria3Oct 18, 2016
D-2-hydroxyglutaric aciduria 1115Feb 20, 2020
DCTN1-Related Disorders1Feb 1, 2019
DDX3X-related X-linked intellectual disability2Dec 16, 2021
DDX41-related hematologic malignancy predisposition syndrome1Dec 16, 2021
DFNB31-Related Disorders1Feb 1, 2019
DICER1 syndrome157Feb 20, 2020
DK1-CDG42Feb 20, 2020
DLD-Related Disorders4Feb 1, 2019
DLG4-related synaptopathy1Aug 9, 2021
DLL3-Related Disorders3Feb 1, 2019
DNA ligase IV deficiency84Feb 20, 2020
DPAGT1-CDG31Feb 20, 2020
DPM3-CDG2Feb 20, 2020
DSP-Related Disorders1Feb 1, 2019
DYNC1H1-related neurodevelopmental disorders6Dec 16, 2021
DYNC1H1-related neuronopathy1Apr 1, 2020
DYNC2H1-Related Disorders6Feb 1, 2019
DYSF-Related Disorders3Feb 20, 2020
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 dehydrogenase147Feb 20, 2020
Deficiency of 3-hydroxyacyl-CoA dehydrogenase48Feb 20, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase32Feb 20, 2020
Deficiency of acetyl-CoA acetyltransferase66Feb 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 dehydrogenase59Feb 20, 2020
Deficiency of butyrylcholine esterase54Feb 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 lyase34Feb 20, 2020
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 pyrroline-5-carboxylate reductase107Feb 20, 2020
Deficiency of ribose-5-phosphate isomerase32Feb 20, 2020
Deficiency of steroid 11-beta-monooxygenase116Feb 20, 2020
Deficiency of steroid 17-alpha-monooxygenase26Feb 20, 2020
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
Desmosterolosis92Feb 20, 2020
Developmental and epileptic encephalopathy, 12104Feb 20, 2020
Developmental and epileptic encephalopathy, 132Dec 14, 2020
Developmental and epileptic encephalopathy, 281Dec 16, 2021
Developmental and epileptic encephalopathy, 311Dec 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, 502Dec 14, 2020
Developmental and epileptic encephalopathy, 561Dec 16, 2021
Developmental and epileptic encephalopathy, 691Dec 14, 2020
Developmental cataract24Oct 18, 2016
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension20Feb 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, 2115Feb 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 deficiency38Feb 20, 2020
Dihydropyrimidinase deficiency47Feb 20, 2020
Dihydropyrimidine dehydrogenase deficiency100Feb 20, 2020
Dilated Cardiomyopathy, Dominant405Oct 18, 2016
Dilated Cardiomyopathy, Recessive34Oct 18, 2016
Dilated cardiomyopathy 1A45Apr 1, 2020
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 1G1778Dec 14, 2020
Dilated cardiomyopathy 1HH62Feb 20, 2020
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 Intracellular Cobalamin Metabolism513Feb 20, 2020
Distal Renal Tubular Acidosis, Dominant9Oct 18, 2016
Distal arthrogryposis4Oct 18, 2016
Distal arthrogryposis type 2B1182Feb 20, 2020
Distal myopathy6Oct 18, 2016
Distal spinal muscular atrophy81Feb 20, 2020
Donnai-Barrow syndrome390Feb 20, 2020
Dopa-responsive dystonia9Oct 18, 2016
Dopa-responsive dystonia due to sepiapterin reductase deficiency30Feb 20, 2020
Dopamine beta-hydroxylase deficiency129Feb 20, 2020
Doyne honeycomb retinal dystrophy60Feb 20, 2020
Duane retraction syndrome5Oct 18, 2016
Duane retraction syndrome 246Feb 20, 2020
Dubin-Johnson syndrome133Feb 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 Disorders1Feb 1, 2019
EEM syndrome112Feb 20, 2020
ENPP1-Related Disorders2Feb 1, 2019
ERCC2-Related Disorders4Feb 1, 2019
ERCC6-Related Disorders7Feb 1, 2019
EVC-Related Disorders3Feb 1, 2019
EYA4-Related Disorders1Feb 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 dystonia49Feb 20, 2020
Early-onset myopathy with fatal cardiomyopathy1815Feb 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
Ectrodactyly10Oct 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, arthrochalasis type138Jul 16, 2020
Ehlers-Danlos syndrome, classic type111Feb 20, 2020
Ehlers-Danlos syndrome, classic type, 294Feb 20, 2020
Ehlers-Danlos syndrome, dermatosparaxis type197Aug 9, 2021
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 dystrophy79Feb 20, 2020
Emery-Dreifuss muscular dystrophy 4, autosomal dominant550Feb 20, 2020
Emery-Dreifuss muscular dystrophy 5, autosomal dominant502Feb 20, 2020
Encephalopathy due to GLUT1 deficiency82Feb 20, 2020
Encephalopathy due to prosaposin deficiency106Feb 20, 2020
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome38Feb 20, 2020
Endocardial fibroelastosis21Feb 20, 2020
Enhanced S-cone syndrome60Feb 20, 2020
Enlarged parietal foramina8Oct 18, 2016
Epidermolysis bullosa dystrophica251Feb 20, 2020
Epidermolysis bullosa simplex69Feb 20, 2020
Epidermolysis bullosa simplex due to plakophilin deficiency170Feb 20, 2020
Epidermolysis bullosa simplex with mottled pigmentation1Dec 14, 2020
Epidermolytic palmoplantar keratoderma73Feb 20, 2020
Epilepsy62Oct 18, 2016
Epilepsy, childhood absence 273Feb 20, 2020
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 encephalopathy31Feb 20, 2020
Exercise-induced hyperinsulinism67Feb 20, 2020
Exostoses, multiple, type 293Feb 20, 2020
Exudative vitreoretinopathy 1115Feb 20, 2020
Exudative vitreoretinopathy 534Feb 20, 2020
F12-Related Disorders1Oct 18, 2016
F2-Related Disorders2Feb 1, 2019
FAR1-related neurodevelopmental disorder1Dec 16, 2021
FBN1-Related Disorders2Jul 16, 2020
FBXO28-related developmental and epileptic encephalopathy1Aug 9, 2021
FBXW11-related neurodevelopmental, brain, eye, and digit anomalies1Aug 9, 2021
FGA-Related Disorders3Feb 1, 2019
FGFR1-related craniosynostosis syndrome1Dec 20, 2021
FGFR2-related syndromic and non-syndromic craniosynostoses1Dec 14, 2020
FH-Related Disorders1Feb 1, 2019
FHL1-related disorders1Dec 16, 2021
FIG4-Related Disorders4Aug 9, 2021
FKTN-Related Disorders1Feb 1, 2019
FLG-related disorders5Dec 20, 2021
FLNA-related otopalatodigital spectrum disorders1Jul 16, 2020
FLNA-related periventricular nodular heterotopia1Aug 9, 2021
FLNB-Related Spectrum Disorders259Dec 14, 2020
FSHR-Related Disorders1Feb 1, 2019
Fabry disease14Feb 20, 2020
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 fever117Feb 20, 2020
Familial Periodic Fever7Oct 18, 2016
Familial X-linked hypophosphatemic vitamin D refractory rickets45Dec 14, 2020
Familial amyloid nephropathy with urticaria AND deafness91Feb 20, 2020
Familial apolipoprotein C-II deficiency23Feb 20, 2020
Familial atrial fibrillation68Oct 18, 2016
Familial benign pemphigus70Feb 20, 2020
Familial cancer of breast56Feb 20, 2020
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 receptor92Feb 20, 2020
Familial hypobetalipoproteinemia61Oct 18, 2016
Familial hypobetalipoproteinemia 1265Feb 20, 2020
Familial hypocalciuric hypercalcemia3Oct 18, 2016
Familial hypocalciuric hypercalcemia 159Feb 20, 2020
Familial hypokalemia-hypomagnesemia190Dec 20, 2021
Familial hypoparathyroidism127Feb 20, 2020
Familial infantile myoclonic epilepsy191Feb 20, 2020
Familial isolated deficiency of vitamin E59Feb 20, 2020
Familial juvenile hyperuricemic nephropathy type 228Feb 20, 2020
Familial multiple trichoepitheliomata109Feb 20, 2020
Familial partial lipodystrophy9Oct 18, 2016
Familial partial lipodystrophy, Dunnigan type44Feb 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 thyroid dyshormonogenesis 188Feb 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 D1200Feb 20, 2020
Fanconi anemia complementation group D2120Dec 14, 2020
Fanconi anemia complementation group E61Feb 20, 2020
Fanconi anemia complementation group F72Feb 20, 2020
Fanconi anemia complementation group G50Feb 20, 2020
Fanconi anemia complementation group I137Dec 14, 2020
Fanconi anemia complementation group J135Feb 20, 2020
Fanconi anemia complementation group L44Feb 20, 2020
Fanconi anemia complementation group N69Feb 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 154Feb 20, 2020
Fetal hemoglobin quantitative trait locus 131Feb 20, 2020
Fibrochondrogenesis 1178Feb 20, 2020
Fibrochondrogenesis 2141Feb 20, 2020
Fibromatosis, gingival, 1132Feb 20, 2020
Fibrous dysplasia of jaw183Feb 20, 2020
Finnish congenital nephrotic syndrome15Dec 16, 2021
Fleck corneal dystrophy168Feb 20, 2020
Floating-Harbor syndrome6Jul 16, 2020
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
Foveal hypoplasia 1125Feb 20, 2020
Fowler syndrome6Oct 18, 2016
Frank-Ter Haar syndrome200Feb 20, 2020
Fraser syndrome 1487Feb 20, 2020
Fraser syndrome 2343Feb 20, 2020
Fraser syndrome 382Feb 20, 2020
Freeman-Sheldon syndrome162Feb 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 deficiency53Feb 20, 2020
Fundus dystrophy, pseudoinflammatory, recessive form14Oct 18, 2016
G6PD deficiency47Dec 20, 2021
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 Disorders6Feb 1, 2019
GDAP1-Related Disorders1Feb 1, 2019
GEMIN5-related neurodevelopmental disorder1Dec 16, 2021
GJB1-related disorders1Dec 16, 2021
GJB2-Related Disorders2Feb 1, 2019
GJB6-related disorders1Feb 1, 2019
GLE1-Related Disorders2Feb 1, 2019
GLI2-related disorders1Dec 14, 2020
GLI3-Related Disorders2Feb 1, 2019
GLUT1 deficiency syndrome13Oct 18, 2016
GM1 gangliosidosis60Feb 20, 2020
GM3 synthase deficiency57Feb 20, 2020
GNE myopathy106Feb 20, 2020
GNPTAB-Related Disorders4Dec 14, 2020
GPSM2-Related Disorders3Feb 1, 2019
GRACILE syndrome22Feb 20, 2020
GRIA2-related neurodevelopmental disorder1Jul 16, 2020
GRIA3-related complex neurodevelopmental disorder2Dec 16, 2021
GRIA4-related neurodevelopmental disorder2Dec 14, 2020
GTP cyclohydrolase I deficiency74Feb 20, 2020
Galactosemia1Oct 18, 2016
Galactosylceramide beta-galactosidase deficiency145Apr 1, 2020
Gamma-aminobutyric acid transaminase deficiency153Feb 20, 2020
Gastrointestinal stromal tumor224Feb 20, 2020
Gaucher disease1Oct 18, 2016
Gaucher disease type I2Dec 16, 2021
Gaze palsy, familial horizontal, with progressive scoliosis 1114Feb 20, 2020
Geleophysic dysplasia194Feb 20, 2020
Geleophysic dysplasia 1128Feb 20, 2020
Generalized epilepsy with febrile seizures plus17Oct 18, 2016
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 psoriasis68Feb 20, 2020
Genitourinary and/or brain malformation syndrome1Dec 14, 2020
Geroderma osteodysplastica53Feb 20, 2020
Giant axonal neuropathy 1124Apr 1, 2020
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 143Feb 20, 2020
Gluthathione synthetase deficiency38Feb 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 type III129Feb 20, 2020
Glycogen storage disease type X26Feb 20, 2020
Glycogen storage disease, type I53Feb 20, 2020
Glycogen storage disease, type II153Dec 20, 2021
Glycogen storage disease, type IV68Feb 20, 2020
Glycogen storage disease, type V87Feb 20, 2020
Glycogen storage disease, type VI58Feb 20, 2020
Glycogen storage disease, type VII49Feb 20, 2020
Glycogen storage disorder due to hepatic glycogen synthase deficiency79Feb 20, 2020
Goldberg-Shprintzen megacolon 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
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions53Feb 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 Disorders3Feb 1, 2019
HBB-Related Disorders2Feb 1, 2019
HBD-Related Disorders1Feb 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 Disorders1Feb 1, 2019
HR-Related Disorders1Feb 1, 2019
HSD17B4-Related Disorders1Feb 1, 2019
HSPB1-Related Disorders1Feb 1, 2019
HSPB1-related axonal neuropathies2Dec 20, 2021
HSPG2-Related Disorders2Feb 1, 2019
HTRA1-related cerebral small vessel disease1Feb 1, 2019
Haim-Munk syndrome46Feb 20, 2020
Hao-Fountain syndrome1Oct 7, 2021
Harel-Yoon syndrome6Dec 16, 2021
Hawkinsinuria32Feb 20, 2020
Hb SS disease16Feb 20, 2020
Hearing loss, X-linked 123Feb 20, 2020
Hearing loss, X-linked 48Feb 20, 2020
Hecht syndrome114Feb 20, 2020
Hemochromatosis type 145Feb 20, 2020
Hemochromatosis type 2A46Feb 20, 2020
Hemochromatosis type 2B8Feb 20, 2020
Hemochromatosis type 383Feb 20, 2020
Hemochromatosis type 447Feb 20, 2020
Hemochromatosis type 518Feb 20, 2020
Hemoglobin E17Feb 20, 2020
Hemoglobin E disease1Feb 1, 2019
Hemolytic anemia130Feb 20, 2020
Hemolytic uremic syndrome, atypical, susceptibility to, 182Feb 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 syndrome35Oct 18, 2016
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 II deficiency disease1Oct 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 disease85Feb 20, 2020
Hereditary fructosuria64Feb 20, 2020
Hereditary hemochromatosis9Oct 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 cancer93Aug 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 3166Feb 20, 2020
Hereditary spastic paraplegia 3372Feb 20, 2020
Hereditary spastic paraplegia 3567Feb 20, 2020
Hereditary spastic paraplegia 39118Feb 20, 2020
Hereditary spastic paraplegia 3A42Feb 20, 2020
Hereditary spastic paraplegia 494Feb 20, 2020
Hereditary spastic paraplegia 421Feb 1, 2019
Hereditary spastic paraplegia 48280Feb 20, 2020
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 1213Feb 20, 2020
Hereditary spherocytosis type 21Aug 9, 2021
Hereditary spherocytosis type 3245Feb 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 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
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 deficiency145Feb 20, 2020
Holoprosencephaly 11208Feb 20, 2020
Holoprosencephaly 21Dec 14, 2020
Holoprosencephaly 31Dec 14, 2020
Holoprosencephaly 49Feb 20, 2020
Holoprosencephaly 7182Feb 20, 2020
Holoprosencephaly 9140Feb 20, 2020
Holoprosencephaly sequence201Feb 20, 2020
Holt-Oram syndrome102Dec 14, 2020
Homocystinuria4Oct 18, 2016
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Jul 16, 2020
Human HOXA1 syndromes26Feb 20, 2020
Hutchinson-Gilford syndrome71Feb 20, 2020
Hyaline fibromatosis syndrome146Feb 20, 2020
Hydatidiform mole, recurrent, 1107Feb 20, 2020
Hydrolethalus syndrome12Oct 18, 2016
Hyper-IgE recurrent infection syndrome 166Feb 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, 193Feb 20, 2020
Hypercholanemia, familial6Oct 18, 2016
Hypercholanemia, familial 181Feb 20, 2020
Hypercholesterolemia, autosomal dominant, 3108Feb 20, 2020
Hypercholesterolemia, autosomal dominant, type B288Feb 20, 2020
Hypercholesterolemia, familial, 1260Feb 20, 2020
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, 444Feb 20, 2020
Hyperinsulinism due to glucokinase deficiency58Feb 20, 2020
Hyperinsulinism, Dominant42Oct 18, 2016
Hyperinsulinism, Dominant/Recessive20Oct 18, 2016
Hyperinsulinism-hyperammonemia syndrome48Feb 20, 2020
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 disease55Feb 20, 2020
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
Hyperthyroxinemia, dysalbuminemic1Oct 18, 2016
Hyperthyroxinemia, familial dysalbuminemic53Feb 20, 2020
Hypertrichotic osteochondrodysplasia Cantu type67Dec 14, 2020
Hypertrophic cardiomyopathy297Oct 18, 2016
Hypertrophic cardiomyopathy 1126Feb 20, 2020
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 4106Dec 14, 2020
Hypertrophic cardiomyopathy 679Feb 20, 2020
Hypertrophic cardiomyopathy 729Apr 1, 2020
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
Hypobetalipoproteinemia103Feb 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 2 with or without anosmia137Feb 20, 2020
Hypogonadotropic hypogonadism 24 without anosmia25Feb 20, 2020
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
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 1195Feb 20, 2020
Hypokalemic periodic paralysis, type 2199Feb 20, 2020
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism64Feb 20, 2020
Hypomyelinating leukodystrophy 111Feb 1, 2019
Hypomyelinating leukodystrophy 641Jul 16, 2020
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
Hypophosphatasia70Feb 20, 2020
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, 2172Feb 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, 294Feb 20, 2020
Hypotonia with lactic acidemia and hyperammonemia20Feb 20, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Jul 16, 2020
Hypotrichosis 6100Feb 20, 2020
Hypouricemia, renal, 264Feb 20, 2020
I blood group system89Feb 20, 2020
IGHMBP2-related neuronopathy1Apr 1, 2020
IMAGe syndrome1Dec 14, 2020
IMPDH1-Related Disorders1Feb 1, 2019
IQSEC2-related X-linked neurodevelopmental disorder1Aug 9, 2021
ITPR1-related syndromic and non-syndromic hereditary ataxias2Dec 14, 2020
Ichthyosis bullosa of Siemens71Feb 20, 2020
Ichthyosis, hystrix-like, with hearing loss71Feb 20, 2020
Idiopathic Pulmonary Fibrosis48Feb 20, 2020
Idiopathic basal ganglia calcification 184Feb 20, 2020
Idiopathic hypereosinophilic syndrome136Feb 20, 2020
Imerslund-Grasbeck syndrome8Feb 1, 2019
Imerslund-Grasbeck syndrome type 1331Feb 20, 2020
Immunodeficiency 1832Feb 20, 2020
Immunodeficiency 1913Feb 20, 2020
Immunodeficiency 27A57Feb 20, 2020
Immunodeficiency 35125Feb 20, 2020
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 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 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 with autistic features and language delay, with or without seizures1Aug 9, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1Dec 14, 2020
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Dec 20, 2021
Intellectual disability, X-linked 2124Feb 20, 2020
Intellectual disability, X-linked 3020Feb 20, 2020
Intellectual disability, X-linked 7226Feb 20, 2020
Intellectual disability, X-linked 9394Dec 16, 2021
Intellectual disability, X-linked 9729Feb 20, 2020
Intellectual disability, X-linked syndromic, Turner type1Dec 14, 2020
Intellectual disability, X-linked, with or without seizures, arx-related1Dec 14, 2020
Intellectual disability, autosomal dominant 143Dec 14, 2020
Intellectual disability, autosomal dominant 541Dec 20, 2021
Intellectual disability, autosomal dominant 562Dec 16, 2021
Intellectual disability, autosomal dominant 571Aug 9, 2021
Intellectual disability, autosomal dominant 61Apr 1, 2020
Intellectual disability, autosomal recessive 193Feb 20, 2020
Intellectual disability, autosomal recessive 1313Feb 20, 2020
Intellectual disability, autosomal recessive 565Feb 20, 2020
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Dec 20, 2021
Interfrontal craniofaciosynostosis1Oct 18, 2016
Interstitial lung disease due to ABCA3 deficiency200Feb 20, 2020
Intestinal hypomagnesemia 1147Feb 20, 2020
Iodotyrosyl coupling defect261Feb 20, 2020
Irido-corneo-trabecular dysgenesis198Feb 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 587Feb 20, 2020
Isolated microphthalmia 625Oct 18, 2016
Isolated sulfite oxidase deficiency49Dec 14, 2020
Isovaleryl-CoA dehydrogenase deficiency96Feb 20, 2020
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 syndrome89Oct 18, 2016
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
KAT6B-Related Spectrum Disorders6Oct 18, 2016
KCNA1-related disorders1Dec 16, 2021
KCNE2-Related Disorders2Feb 1, 2019
KCNH1-related disorders1Apr 1, 2020
KCNJ10-Related Disorders1Feb 1, 2019
KCNJ11-Related Disorders1Feb 1, 2019
KCNQ1-Related Disorders2Feb 1, 2019
KCNQ2-Related Disorders4Aug 9, 2021
KDM5C-related X-linked syndromic intellectual disability1Aug 9, 2021
KDM6B-related neurodevelopmental disorder1Aug 9, 2021
KIF1A-related disorders1Dec 14, 2020
KIF7-related ciliopathy spectrum disorder2Jul 16, 2020
KMT2B-related disorders1Dec 16, 2021
KMT2C-related disorders3Dec 14, 2020
KMT5B-related neurodevelopmental disorder1Jul 16, 2020
Kabuki Syndrome - KDM6A1Jul 16, 2020
Kabuki syndrome10Oct 18, 2016
Kabuki syndrome 16Aug 9, 2021
Kartagener syndrome48Feb 20, 2020
Keratitis ichthyosis and deafness syndrome3Oct 18, 2016
Keratoconus1Oct 18, 2016
Keratosis follicularis87Feb 20, 2020
Keutel syndrome33Feb 20, 2020
Kindler syndrome157Feb 20, 2020
Kleefstra syndrome 15Oct 18, 2016
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, atypical, due to saposin A deficiency68Feb 20, 2020
Kufor-Rakeb syndrome115Feb 20, 2020
LAMA3-Related Disorders1Feb 1, 2019
LAMB2-related infantile-onset nephrotic syndrome116Feb 20, 2020
LARGE-related disorders1Feb 1, 2019
LCAT deficiency24Feb 20, 2020
LEOPARD syndrome 183Feb 20, 2020
LEOPARD syndrome 263Feb 20, 2020
LEOPARD syndrome 338Feb 20, 2020
LEPR-Related Disorders2Feb 1, 2019
LIG4-Related Disorders2Feb 1, 2019
LIPA-Related Disorders2Feb 1, 2019
LMNA-Related Disorders1Feb 1, 2019
LTBP2-Related Disorders1Feb 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 degeneration89Feb 20, 2020
Lathosterolosis128Feb 20, 2020
Lattice corneal dystrophy Type III44Feb 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 10103Dec 20, 2021
Left-right axis malformations41Feb 20, 2020
Legius syndrome135Feb 20, 2020
Leigh syndrome844Dec 14, 2020
Leprechaunism syndrome243Feb 20, 2020
Lessel-Kreienkamp syndrome1Dec 16, 2021
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 1127Feb 20, 2020
Leukocyte adhesion deficiency type II74Feb 20, 2020
Leukodystrophy, Adult-Onset15Oct 18, 2016
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome44Feb 20, 2020
Leukoencephalopathy with calcifications and cysts1Jul 16, 2020
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 146Feb 20, 2020
Liddle syndrome 166Dec 14, 2020
Liddle syndrome 266Feb 20, 2020
Limb-Girdle Muscular Dystrophy, Dominant73Oct 18, 2016
Limb-Girdle Muscular Dystrophy, Recessive535Oct 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, 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
Long QT syndrome118Feb 1, 2019
Long QT syndrome 1100Apr 1, 2020
Long QT syndrome 1259Feb 20, 2020
Long QT syndrome 290Dec 14, 2020
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
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
Lysinuric protein intolerance61Feb 20, 2020
Lysosomal acid lipase deficiency53Feb 20, 2020
MAN1B1-Related Disorders1Apr 5, 2019
MAP2K1-Related Disorders1Feb 1, 2019
MAP2K1-related RASopathy1Apr 1, 2020
MAPT-Related Spectrum Disorders171Feb 20, 2020
MASS syndrome41Oct 18, 2016
MED12-related intellectual disability syndrome1Dec 16, 2021
MED12L-related neurodevelopmental disorder1Dec 14, 2020
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 Disorders1Feb 1, 2019
MFRP-related disorders1Feb 1, 2019
MGAT2-CDG56Feb 20, 2020
MHC class II deficiency286Feb 20, 2020
MKKS-Related Disorders1Feb 1, 2019
MKS1-Related Disorders3Feb 1, 2019
MMP13-Related Disorders2Feb 1, 2019
MORC2-related neurodevelopmental disorders1Dec 20, 2021
MPDU1-CDG28Feb 20, 2020
MPI-CDG49Feb 20, 2020
MPL-Related Disorders5Feb 1, 2019
MPV17-Related Disorders1Feb 1, 2019
MPZ-Related Disorders1Feb 1, 2019
MUTYH-related attenuated familial adenomatous polyposis64Feb 20, 2020
MVK-Related Disorders2Feb 1, 2019
MYBPC3-Related Disorders5Feb 20, 2020
MYH3-Related Disorders2Dec 14, 2020
MYH6-Related Disorders1Feb 1, 2019
MYH7-Related Disorders4Dec 20, 2021
MYH7-related skeletal myopathy140Feb 20, 2020
MYH9-related disorder208Feb 20, 2020
MYL2-Related Disorders1Feb 1, 2019
MYO7A-Related Disorders11Jul 16, 2020
MYOC-Related Disorders4Feb 1, 2019
Macrocephaly, acquired, with impaired intellectual development1Dec 14, 2020
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Aug 9, 2021
Macular corneal dystrophy193Feb 20, 2020
Macular degeneration311Feb 20, 2020
Macular degeneration, age-related, 354Feb 20, 2020
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 hypertherm