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Laboratorio de Genetica e Diagnostico Molecular (Hospital Israelita Albert Einstein), LABO-HIAE

General information

Laboratorio de Genetica e Diagnostico Molecular, LABO-HIAE
Hospital Israelita Albert Einstein
Avenida Albert Einstein, 627 Jardim Leonor, Sao Paulo
Sao Paulo
Sao Paulo
Brazil - 05652-900
https://www.einstein.br
Organization ID: 508506

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 4835

Gene

GeneSubmissionsLast Updated
A2ML11Apr 20, 2026
ABAT1Apr 20, 2026
ABCA121May 19, 2022
ABCA22May 11, 2022
ABCA31Jun 3, 2025
ABCA52May 25, 2022
ABCA71May 11, 2022
ABCB44Oct 23, 2023
ABCC65Mar 1, 2023
ABCC81May 25, 2022
ABCD15Mar 1, 2023
ABHD121May 11, 2022
ABL11May 2, 2023
ABRAXAS11Jun 12, 2023
ACAD81Mar 1, 2023
ACAD93Jun 3, 2025
ACADM4May 25, 2022
ACADS4May 2, 2023
ACADSB1May 19, 2022
ACADVL4Apr 20, 2026
ACAN4Mar 1, 2023
ACBD51May 19, 2022
ACBD62Jun 27, 2025
ACP51Mar 1, 2023
ACSL41Jun 3, 2025
ACTA11May 25, 2022
ACTB2Mar 1, 2023
ACTG12Mar 1, 2023
ACTG21May 11, 2022
ACTL6B2May 2, 2023
ACTN43Jun 3, 2025
ACVR11May 11, 2022
ACVRL13Apr 20, 2026
ADA1May 2, 2023
ADA22May 2, 2023
ADAM222May 2, 2023
ADAMTS183May 2, 2023
ADAMTS22May 19, 2022
ADAR1May 2, 2023
ADARB12Mar 1, 2023
ADCY33Mar 1, 2023
ADCY51Mar 1, 2023
ADGRL13Jun 3, 2025
ADGRL1-AS13Jun 3, 2025
ADGRV11May 25, 2022
ADNP6Apr 20, 2026
ADPRS2May 11, 2022
AFF23Apr 20, 2026
AFF44Jun 3, 2025
AFG2A1May 25, 2022
AGA1Jun 3, 2025
AGO11Jun 3, 2025
AGRN4May 25, 2022
AGXT1May 25, 2022
AHCY1May 25, 2022
AHDC16Jun 3, 2025
AICDA3Jun 6, 2023
AIRE3Jun 3, 2025
AKR1D11Jun 3, 2025
AKT31May 25, 2022
ALDH18A12Mar 1, 2023
ALDH3A21Jun 3, 2025
ALDH4A11May 19, 2022
ALDH6A11May 2, 2023
ALDH7A12May 19, 2022
ALDOA1May 25, 2022
ALDOB5May 2, 2023
ALG133Jun 3, 2025
ALG22May 25, 2022
ALG61May 25, 2022
ALG82May 25, 2022
ALG91May 25, 2022
ALK2Jun 3, 2025
ALKBH81May 19, 2022
ALMS19Apr 20, 2026
ALOX12B1Mar 1, 2023
ALPK14Jun 3, 2025
ALPK33Apr 20, 2026
ALPL5May 2, 2023
ALS21May 11, 2022
ALX41May 19, 2022
AMER12Apr 20, 2026
AMH1Jun 3, 2025
AMMECR11Jun 3, 2025
AMT4Mar 1, 2023
ANGPT21Mar 1, 2023
ANK12Jun 3, 2025
ANK21May 11, 2022
ANK35Apr 20, 2026
ANKLE22May 25, 2022
ANKRD1136Apr 20, 2026
ANKRD177Jun 3, 2025
ANKRD262Apr 20, 2026
ANKS61Jun 3, 2025
ANO102Jun 3, 2025
ANO51Mar 15, 2024
ANTXR23Dec 7, 2023
AOPEP2Jun 9, 2025
AP2M12Jun 3, 2025
AP3B21Mar 1, 2023
AP4M13Jun 3, 2025
AP4S13Jun 3, 2025
APC14May 2, 2023
APC22May 25, 2022
APOB1Apr 4, 2025
APOE1Mar 1, 2023
APP1May 25, 2022
APRT1May 19, 2022
APTX1Mar 1, 2023
AR2Mar 1, 2023
ARCN12May 25, 2022
ARFGEF111Apr 20, 2026
ARFGEF22Jun 3, 2025
ARG12Jun 27, 2024
ARHGAP312Jun 3, 2025
ARHGEF13Jun 3, 2025
ARHGEF121May 2, 2023
ARHGEF91Jun 3, 2025
ARID1A5Apr 20, 2026
ARID1B23Apr 20, 2026
ARID29Apr 20, 2026
ARL6IP11Jun 3, 2025
ARMC51Jun 3, 2025
ARMC91May 25, 2022
ARSA3Mar 1, 2023
ARSB2May 25, 2022
ARSL2Jun 3, 2025
ARV11May 25, 2022
ARX3Mar 1, 2023
ASAH11May 25, 2022
ASCC11May 2, 2023
ASH1L14Jun 3, 2025
ASIC4-AS11Apr 20, 2026
ASL2Jun 3, 2025
ASPH2Jun 3, 2025
ASPM8Apr 20, 2026
ASS11May 19, 2022
ASTN21Mar 1, 2023
ASXL12Mar 1, 2023
ASXL25Jun 3, 2025
ASXL312Jun 3, 2025
ATM22Mar 1, 2023
ATN13May 25, 2022
ATP11A1Mar 1, 2023
ATP13A22May 25, 2022
ATP13A31Mar 1, 2023
ATP1A22May 2, 2023
ATP1A36Mar 1, 2023
ATP2A12May 19, 2022
ATP2B11Jun 3, 2025
ATP2B21May 2, 2023
ATP2B31May 19, 2022
ATP6AP12May 2, 2023
ATP6AP22Mar 1, 2023
ATP6V0A41Apr 20, 2026
ATP6V1B13Jun 3, 2025
ATP7A2May 25, 2022
ATP7B5Jun 3, 2025
ATP9A2Apr 20, 2026
ATPAF22Mar 1, 2023
ATR2Mar 1, 2023
ATRIP5Mar 1, 2023
ATRIP-TREX15Mar 1, 2023
ATRX8May 2, 2023
ATXN7L3-AS12Mar 1, 2023
AURKA1Jun 3, 2025
AUTS29Jun 3, 2025
AXDND11Jun 27, 2025
AXIN22May 2, 2023
B3GALNT21Jun 3, 2025
B3GLCT2Mar 1, 2023
B4GALNT11May 11, 2022
B4GALT11May 2, 2023
BACH24Jun 3, 2025
BAP13Mar 1, 2023
BARD19Jun 3, 2025
BBOF11May 2, 2023
BBS18Apr 20, 2026
BBS105Jun 3, 2025
BBS122Apr 20, 2026
BBS22May 19, 2022
BBS71May 19, 2022
BCHE1May 25, 2022
BCKDHB2Mar 1, 2023
BCKDK1May 25, 2022
BCL11A3Apr 20, 2026
BCL11B1May 25, 2022
BCOR3Apr 20, 2026
BCORL14Apr 20, 2026
BCS1L4May 25, 2022
BEST11May 25, 2022
BICD22Mar 1, 2023
BICRA6Jun 9, 2025
BIN11May 25, 2022
BIVM-ERCC51May 25, 2022
BLM5Apr 20, 2026
BLOC1S1-RDH51May 25, 2022
BLOC1S51May 2, 2023
BLOC1S5-TXNDC51May 2, 2023
BMP21Mar 1, 2023
BMP41May 2, 2023
BMP61Jun 9, 2025
BNAT11May 11, 2022
BPTF11Apr 20, 2026
BRAF3Mar 1, 2023
BRAT11May 2, 2023
BRCA119Jul 2, 2025
BRCA232Jan 24, 2024
BRD41May 2, 2023
BRF12Jun 9, 2025
BRIP16Mar 1, 2023
BRPF18Apr 20, 2026
BRWD33Jun 9, 2025
BSCL21May 19, 2022
BTD4Jun 9, 2025
BTK5Mar 1, 2023
BUB1B4Mar 1, 2023
BUB1B-PAK61May 25, 2022
C10orf1051Mar 1, 2023
C11orf657Mar 1, 2023
C12orf604Apr 20, 2026
C14orf391May 25, 2022
C17orf1071Jul 19, 2024
C19orf121Jun 6, 2023
C1QB1May 2, 2023
C1R1Apr 20, 2026
C2CD31May 19, 2022
C32Mar 1, 2023
C61May 2, 2023
C71Jun 9, 2025
C8B1Jun 9, 2025
CACNA1A10Mar 1, 2023
CACNA1B5Jun 9, 2025
CACNA1C6Mar 1, 2023
CACNA1C-AS12Mar 1, 2023
CACNA1D4Mar 1, 2023
CACNA1E3Jun 9, 2025
CACNA1F1May 25, 2022
CACNA1G3May 2, 2023
CACNA1H4May 25, 2022
CACNA1I11Apr 20, 2026
CACNA1S2Mar 1, 2023
CACNA2D31May 25, 2022
CACNB21May 11, 2022
CACNG21Jun 9, 2025
CAD2Apr 20, 2026
CAMK2A1May 2, 2023
CAMK2B1Apr 20, 2026
CAMK2G1Jun 9, 2025
CAMTA16Jun 9, 2025
CAPN12May 11, 2022
CAPN154Apr 20, 2026
CAPN31May 19, 2022
CAPZA21May 25, 2022
CARD112May 2, 2023
CARD11-AS11May 11, 2022
CARD82Jun 9, 2025
CARMIL21Jun 9, 2025
CASD11Jul 30, 2025
CASK2May 2, 2023
CASP101May 25, 2022
CASQ11Apr 20, 2026
CAST2Jun 9, 2025
CAV31May 25, 2022
CBLB1Jun 9, 2025
CBLIF2Apr 5, 2023
CBS1May 11, 2022
CC2D2A3Mar 1, 2023
CCDC1341May 11, 2022
CCDC222Jun 9, 2025
CCDC321Mar 1, 2023
CCDC391Mar 1, 2023
CCDC403Jun 9, 2025
CCDC85C1Jun 9, 2025
CCDC88A1May 11, 2022
CCDST11Mar 1, 2023
CCM21Jun 9, 2025
CCNH1May 19, 2022
CCNK3Apr 20, 2026
CCNO4Apr 20, 2026
CD3D1Jun 9, 2025
CD3G2Apr 20, 2026
CD40LG4Jun 9, 2025
CD461Apr 20, 2026
CD631May 25, 2022
CDC421May 11, 2022
CDC42BPB5Jun 9, 2025
CDC61May 19, 2022
CDCA73Apr 20, 2026
CDH13Mar 1, 2023
CDH111May 2, 2023
CDH153Jun 9, 2025
CDH21May 11, 2022
CDH233Mar 1, 2023
CDH31May 11, 2022
CDHR12Mar 1, 2023
CDK139Jun 9, 2025
CDK194Jun 9, 2025
CDK5RAP21May 11, 2022
CDK81Mar 1, 2023
CDKL56Apr 20, 2026
CDKN1B1Apr 20, 2026
CDKN2A2Mar 1, 2023
CDON1May 19, 2022
CDT11May 2, 2023
CENPE1May 19, 2022
CENPO1Mar 1, 2023
CEP1041May 25, 2022
CEP1351May 25, 2022
CEP2502Jun 9, 2025
CEP2902May 25, 2022
CEP85L1Apr 20, 2026
CERKL1May 25, 2022
CERT11May 11, 2022
CETP1May 25, 2022
CFAP922Jun 3, 2025
CFH1May 2, 2023
CFTR13Mar 1, 2023
CFTR-AS15Mar 1, 2023
CFTR-AS22Mar 1, 2023
CHCHD101May 25, 2022
CHD18Apr 20, 2026
CHD23Apr 20, 2026
CHD314Apr 20, 2026
CHD46Apr 20, 2026
CHD4-AS11Jun 9, 2025
CHD59Apr 20, 2026
CHD78Mar 1, 2023
CHD817Apr 20, 2026
CHEK25Jul 30, 2025
CHKB1May 25, 2022
CHKB-CPT1B1May 25, 2022
CHRNA11May 19, 2022
CHRNB11May 25, 2022
CHRNB21May 19, 2022
CHRNE2Jul 19, 2024
CHRNG1Mar 1, 2023
CHROMR2Jul 30, 2025
CHST142Jun 9, 2025
CHST32Mar 1, 2023
CIC10Apr 20, 2026
CISD31Jun 27, 2025
CLASP13Mar 1, 2023
CLASP1-AS13Mar 1, 2023
CLCC11May 25, 2022
CLCF11May 25, 2022
CLCN24May 25, 2022
CLCN44Jun 9, 2025
CLCN51Mar 1, 2023
CLCN62May 2, 2023
CLCN73Mar 1, 2023
CLMP1Mar 1, 2023
CLN33Mar 1, 2023
CLN62May 25, 2022
CLN81May 25, 2022
CLRN11May 11, 2022
CLTC4Apr 20, 2026
CNGA12Apr 20, 2026
CNGB12Jun 9, 2025
CNKSR24Apr 20, 2026
CNOT14May 2, 2023
CNOT37Jun 9, 2025
COA62May 25, 2022
COASY3May 25, 2022
COG12Jun 9, 2025
COG21May 25, 2022
COG41May 25, 2022
COG52Apr 20, 2026
COG61May 25, 2022
COG72Apr 20, 2026
COL10A11Jun 9, 2025
COL11A17May 2, 2023
COL11A22May 25, 2022
COL12A13May 25, 2022
COL13A11May 25, 2022
COL17A12Mar 1, 2023
COL18A13Mar 1, 2023
COL1A19Mar 1, 2023
COL1A215Mar 1, 2023
COL27A11May 11, 2022
COL2A11May 11, 2022
COL3A12Mar 1, 2023
COL4A13Mar 1, 2023
COL4A31May 19, 2025
COL4A41May 2, 2023
COL4A58Jun 9, 2025
COL5A15Mar 1, 2023
COL5A23Jun 9, 2025
COL6A11Mar 1, 2023
COL6A23May 25, 2022
COL6A310Mar 1, 2023
COL7A117Jan 13, 2025
COL9A23May 25, 2022
COLEC101May 25, 2022
COLEC112Jun 9, 2025
COLQ2May 19, 2022
COMP3Mar 1, 2023
COPA3Jun 9, 2025
COPB21Mar 1, 2023
COQ73Jun 9, 2025
COQ7-DT1Jun 9, 2025
COQ8A1May 25, 2022
COX151May 25, 2022
COX6A11May 19, 2022
CP1May 2, 2023
CPA11May 2, 2023
CPAP2Mar 1, 2023
CPEB1-AS11Mar 1, 2023
CPLANE14Mar 1, 2023
CPSF31Jun 9, 2025
CPT1A1Jun 9, 2025
CPT1C2Jun 9, 2025
CPT22May 2, 2023
CR23Mar 1, 2023
CRB11Mar 1, 2023
CRBN1May 19, 2022
CREBBP7May 2, 2023
CRPPA2Mar 1, 2023
CRTAP5Jun 9, 2025
CRYBA41Apr 20, 2026
CRYBB21Mar 1, 2023
CRYGD1Jun 9, 2025
CRYM1May 2, 2023
CSNK2A12May 2, 2023
CSNK2B4Jun 9, 2025
CSTA1Jun 9, 2025
CTBP11Jun 9, 2025
CTBP1-AS1Jun 9, 2025
CTCF1Apr 20, 2026
CTDP11May 19, 2022
CTLA42Mar 1, 2023
CTNNA11Jun 9, 2025
CTNNB12May 2, 2023
CTNND11Jun 9, 2025
CTNS1May 19, 2022
CTNS-AS11May 19, 2022
CTSF1May 25, 2022
CTSK3Apr 20, 2026
CUBN3May 19, 2022
CUL4B1Jun 9, 2025
CUL72Jun 9, 2025
CUX13Apr 20, 2026
CUX25Jun 9, 2025
CWF19L11Jun 9, 2025
CXCR41May 2, 2023
CYB5R31Mar 1, 2023
CYBA1May 25, 2022
CYBB2May 2, 2023
CYBC11Apr 20, 2026
CYCS1Apr 20, 2026
CYFIP22Jun 9, 2025
CYP19A12Mar 1, 2023
CYP1B12Mar 1, 2023
CYP21A22Mar 1, 2023
CYP27A12Mar 1, 2023
CYP2R11Jun 9, 2025
CYP2U13Apr 20, 2026
DACT11Apr 20, 2026
DALRD31Apr 20, 2026
DARS26Apr 20, 2026
DBT1May 25, 2022
DCAF81May 25, 2022
DCDC21May 11, 2022
DCTN12Oct 21, 2025
DDB13Jun 9, 2025
DDB21May 2, 2023
DDC2May 25, 2022
DDX112Jun 9, 2025
DDX3X7Apr 20, 2026
DDX413Jun 9, 2025
DDX61Jun 9, 2025
DEAF13Mar 1, 2023
DENND5A1Jun 9, 2025
DEPDC53Jun 9, 2025
DGAT12May 2, 2023
DGCR81May 19, 2022
DGUOK2May 2, 2023
DGUOK-AS12May 2, 2023
DHCR75Jun 9, 2025
DHDDS2May 25, 2022
DHODH2Jun 9, 2025
DHX163Apr 20, 2026
DHX303May 2, 2023
DIAPH11May 25, 2022
DIAPH31Jun 9, 2025
DIP2B2Jun 9, 2025
DIP2C1May 25, 2022
DIPK1A3Apr 20, 2026
DLD1May 25, 2022
DLG31Jun 9, 2025
DLG43Jun 9, 2025
DLL19Apr 20, 2026
DMD3Mar 1, 2023
DMXL23May 25, 2022
DNAAF193Jun 27, 2025
DNAAF42Mar 1, 2023
DNAAF4-CCPG12Mar 1, 2023
DNAH113Mar 1, 2023
DNAH52Mar 1, 2023
DNAI12Jun 9, 2025
DNAJC211Mar 1, 2023
DNAJC302Jun 9, 2025
DNASE1L33Jun 9, 2025
DNM13Mar 1, 2023
DNM1L4May 2, 2023
DNM21May 25, 2022
DNMT3A2Mar 1, 2023
DNMT3B3Mar 1, 2023
DOCK25Jun 9, 2025
DOCK61May 25, 2022
DOCK71Jun 9, 2025
DOCK87Apr 20, 2026
DOK72May 25, 2022
DPF22Jun 9, 2025
DPYD1May 25, 2022
DPYS3Mar 1, 2023
DPYSL55Apr 20, 2026
DSC21May 25, 2022
DSE1May 19, 2022
DSG23Jul 2, 2025
DSG2-AS11Jul 2, 2025
DTNA1Jun 9, 2025
DUOX23Jun 9, 2025
DVL33Mar 1, 2023
DYNC1H19May 2, 2023
DYNC2H14Apr 20, 2026
DYNC2I12May 19, 2022
DYRK1A4Apr 20, 2026
DYSF3May 25, 2022
EARS24Jun 9, 2025
EBF35Apr 20, 2026
EBP1May 19, 2022
ECEL15Oct 24, 2025
ECHS19Jun 9, 2025
EDA3Mar 1, 2023
EEF1A22Mar 1, 2023
EEF1E1-BLOC1S51May 2, 2023
EEF21Jun 9, 2025
EFCAB101Mar 1, 2023
EFNB15Jun 9, 2025
EFTUD212Apr 20, 2026
EGFR3May 25, 2022
EHHADH1Mar 1, 2023
EHMT112Jun 9, 2025
EIF2AK31Jun 9, 2025
EIF2B22May 19, 2022
EIF2B31May 25, 2022
EIF2B51May 25, 2022
ELANE2Mar 1, 2023
ELF42Apr 20, 2026
ELMO21May 11, 2022
ELMOD31May 2, 2023
ELN2May 19, 2022
ELP21May 25, 2022
EMC11May 25, 2022
EMC1-AS11May 25, 2022
EMD1May 19, 2022
ENG2Jun 9, 2025
ENTPD11Jun 9, 2025
ENTPD1-AS11Jun 9, 2025
EP3006May 2, 2023
EP4001May 19, 2022
EPB41L12Apr 20, 2026
EPCAM1Mar 1, 2023
EPG53Jun 9, 2025
EPHB41May 25, 2022
EPRS11May 25, 2022
ERAL11Jun 9, 2025
ERBB43May 2, 2023
ERCC11May 11, 2022
ERCC22Mar 1, 2023
ERCC31Mar 1, 2023
ERCC42May 11, 2022
ERCC51May 25, 2022
ERCC62May 2, 2023
ERF1May 19, 2022
ERMARD4Apr 20, 2026
ESRRB2Jun 9, 2025
ETFA2Apr 20, 2026
ETFDH5Apr 20, 2026
ETHE11May 11, 2022
ETV61May 25, 2022
EVC3Mar 1, 2023
EXOC71May 19, 2022
EXOSC32Mar 1, 2023
EXOSC52Jun 9, 2025
EXOSC92Jun 9, 2025
EXT12May 2, 2023
EXT21May 2, 2023
EYS4Jun 9, 2025
EZH21Apr 20, 2026
F21Mar 1, 2023
F71May 25, 2022
F82May 19, 2022
FA2H2Jun 9, 2025
FAH3Apr 20, 2026
FAM20C3Jun 9, 2025
FAM50A1Apr 20, 2026
FAN13Apr 20, 2026
FANCA11Jun 9, 2025
FANCB1Jun 27, 2025
FANCC2Jun 9, 2025
FANCD25Jun 9, 2025
FANCD2OS1Jun 9, 2025
FANCE6Apr 20, 2026
FANCG2Jun 9, 2025
FANCI2Jun 9, 2025
FANCL1May 19, 2022
FANCM2Mar 1, 2023
FARS21May 25, 2022
FAS1May 25, 2022
FASTKD22May 11, 2022
FAT41May 25, 2022
FBLN51May 25, 2022
FBN111Dec 12, 2023
FBN24Mar 1, 2023
FBN31May 25, 2022
FBXL53Mar 1, 2023
FBXO119Jun 9, 2025
FCGR3A1Jun 9, 2025
FCSK1Apr 20, 2026
FDXR2Jun 9, 2025
FECH1May 25, 2022
FGFR13Mar 1, 2023
FGFR23Mar 1, 2023
FGFR33Mar 1, 2023
FHL21Jun 12, 2023
FIBP1Jun 9, 2025
FIG42May 2, 2023
FKBP104Mar 1, 2023
FKBP141Jun 9, 2025
FKBP14-AS11Jun 9, 2025
FKTN2May 25, 2022
FLCN1Mar 1, 2023
FLG11Mar 1, 2023
FLNA5May 25, 2022
FLNB2Mar 1, 2023
FLT41May 11, 2022
FMO33May 19, 2022
FMR11May 19, 2022
FN11Mar 1, 2023
FOXC11May 19, 2022
FOXG11May 19, 2022
FOXI31Jun 9, 2025
FOXL22May 2, 2023
FOXN12Mar 1, 2023
FOXP14Jun 9, 2025
FOXP35Jun 9, 2025
FOXRED12Jun 9, 2025
FPGT-TNNI3K3Jul 30, 2025
FRA10AC12Jun 9, 2025
FRAS15Apr 20, 2026
FRMD52Jun 9, 2025
FRMPD47Apr 20, 2026
FRRS1L1Mar 1, 2023
FTO1May 25, 2022
FUT82May 25, 2022
FXR11May 11, 2022
FYCO11Apr 20, 2026
FZD21May 25, 2022
FZR11Jun 27, 2025
G6PD1Mar 1, 2023
GAA5Jan 30, 2024
GABBR22May 2, 2023
GABRA52Jun 27, 2025
GABRB23Jun 27, 2025
GABRB31Mar 1, 2023
GABRD2May 2, 2023
GABRG22Mar 1, 2023
GAL1Apr 20, 2026
GALC8Mar 1, 2023
GALE2Mar 1, 2023
GALK11May 11, 2022
GALNT31Jun 27, 2025
GALT5Jun 27, 2025
GAMT2Mar 1, 2023
GAN3Jun 27, 2025
GAREM22May 25, 2022
GATA11Mar 1, 2023
GATA21Mar 1, 2023
GATA31Jun 27, 2025
GATA52Apr 20, 2026
GATA61Mar 1, 2023
GATAD2B3Jun 27, 2025
GBA12May 25, 2022
GBA22Jun 27, 2025
GBE13May 25, 2022
GCDH4Jun 24, 2026
GCH13Mar 1, 2023
GCK1Mar 1, 2023
GCNT21May 11, 2022
GCSH1Jun 27, 2025
GDAP11Mar 1, 2023
GDF111Jun 27, 2025
GDF52Mar 1, 2023
GDF5-AS12Mar 1, 2023
GDI11May 11, 2022
GFAP2May 2, 2023
GFM11May 25, 2022
GFM24Jun 27, 2025
GH-LCR3Mar 1, 2023
GH11Mar 1, 2023
GHR1May 25, 2022
GHSR2Mar 1, 2023
GIGYF22May 25, 2022
GINS11May 25, 2022
GJA85Apr 20, 2026
GJB24Mar 1, 2023
GJB31May 11, 2022
GJB61Mar 1, 2023
GJC21May 11, 2022
GLA1Mar 1, 2023
GLB15Mar 1, 2023
GLDC9Apr 20, 2026
GLE11Jun 6, 2023
GLI24Mar 1, 2023
GLI31May 11, 2022
GLMN2Jun 27, 2025
GLRA21Jun 27, 2025
GLUD12Jun 27, 2025
GLUD21May 25, 2022
GLUL1Apr 20, 2026
GMNN1Jun 27, 2025
GMPPA1Apr 20, 2026
GMPPB2Mar 1, 2023
GNAI11Mar 1, 2023
GNAO11May 25, 2022
GNAS2Mar 1, 2023
GNB13May 25, 2022
GNE3May 2, 2023
GNG12-AS11May 2, 2023
GNPAT1May 2, 2023
GNPTAB1Mar 1, 2023
GNRH11Jun 27, 2025
GNRHR1May 2, 2023
GPAA13Mar 1, 2023
GPHN1Apr 20, 2026
GPRC5B1Apr 20, 2026
GPSM22Jun 27, 2025
GRHL21May 2, 2023
GRIA22May 19, 2022
GRIA31Jun 27, 2025
GRIA43Jun 27, 2025
GRID22Jun 27, 2025
GRIK21May 25, 2022
GRIN12May 2, 2023
GRIN2A7Apr 20, 2026
GRIN2B3May 25, 2022
GRIN2D2Mar 1, 2023
GRIP11May 11, 2022
GRM12May 25, 2022
GRXCR11Apr 20, 2026
GSC1May 25, 2022
GSDME1May 2, 2023
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OFD11Mar 1, 2023
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ORC12Jun 27, 2025
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OTC1Dec 12, 2023
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PAH13Jan 30, 2024
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PEX11B2Jun 27, 2025
PEX21May 25, 2022
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PHIP5Jun 27, 2025
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PHKA25Mar 1, 2023
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PIDD12Jun 27, 2025
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PIGN5Apr 20, 2026
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PIK3CD3Mar 1, 2023
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PIK3R11May 11, 2022
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PIRC662Mar 1, 2023
PKD115Apr 20, 2026
PKD1-AS14Apr 20, 2026
PKD1L12Apr 20, 2026
PKD1L1-AS11Apr 20, 2026
PKD23Jun 27, 2025
PKHD110Jun 27, 2025
PKLR3Mar 1, 2023
PLA2G66Mar 1, 2023
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PLCB12Jun 27, 2025
PLCB44Apr 20, 2026
PLCE15May 2, 2023
PLCG22Mar 1, 2023
PLD31May 11, 2022
PLEC6May 2, 2023
PLK41May 25, 2022
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PLOD22Apr 20, 2026
PLP12Mar 1, 2023
PLVAP1Apr 20, 2026
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PMM29Jun 27, 2025
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PMS23Dec 12, 2023
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PNPO1Apr 20, 2026
PNPT11May 25, 2022
POC1A1May 25, 2022
POGZ16Apr 20, 2026
POLA11May 25, 2022
POLD15May 2, 2023
POLE5Mar 1, 2023
POLG8Apr 26, 2023
POLGARF8Apr 26, 2023
POLH2Mar 1, 2023
POLR1A4Jun 27, 2025
POLR1B1Mar 1, 2023
POLR1C3Mar 1, 2023
POLR2A12Apr 20, 2026
POLR3A2Mar 1, 2023
POLR3B7May 25, 2022
POLR3F1Jun 27, 2025
POLRMT4Jun 27, 2025
POMGNT11May 11, 2022
POMT21May 19, 2022
POR2Mar 1, 2023
PORCN4Apr 20, 2026
POT11May 2, 2023
POU3F34Apr 20, 2026
PPFIBP11Apr 20, 2026
PPM1D1May 25, 2022
PPOX3Apr 20, 2026
PPP1CB1Jul 30, 2025
PPP1R12A3Apr 20, 2026
PPP1R15B1Jul 30, 2025
PPP2CA1Jul 30, 2025
PPP2R1A1Jul 30, 2025
PPP2R5D3Jul 30, 2025
PPP3CA2May 25, 2022
PPT12Jul 30, 2025
PQBP14Apr 20, 2026
PRCC1Mar 1, 2023
PRDM161May 25, 2022
PREPL1May 19, 2022
PRF12May 25, 2022
PRG43Mar 1, 2023
PRKCD1May 19, 2022
PRKCG2Apr 20, 2026
PRKCSH1May 19, 2022
PRKD11Jul 30, 2025
PRKDC3Apr 20, 2026
PRKN1Mar 1, 2023
PRKRA3Jul 30, 2025
PROK21Jul 30, 2025
PRR123Jul 30, 2025
PRRT22May 2, 2023
PRX1May 11, 2022
PSEN11May 11, 2022
PSEN21May 2, 2023
PSMB84Jul 30, 2025
PSMB91Mar 1, 2023
PSMD125Apr 20, 2026
PSTPIP13Jul 30, 2025
PTCD31May 25, 2022
PTCH17Mar 1, 2023
PTCH23Jun 12, 2023
PTCHD11May 19, 2022
PTDSS12Jul 30, 2025
PTEN8Mar 1, 2023
PTH1R1May 25, 2022
PTPN118Mar 1, 2023
PTPN233Jul 30, 2025
PTPRC1May 25, 2022
PTPRQ1May 25, 2022
PUF605Jul 30, 2025
PUM11May 19, 2022
PURA2Mar 1, 2023
PUS34Jul 30, 2025
PUS72Mar 1, 2023
PXDN2Apr 20, 2026
PYCR21Mar 1, 2023
PYGM5Apr 20, 2026
QARS11Mar 1, 2023
QRICH11Apr 20, 2026
RAB11B1May 11, 2022
RAB27A2May 25, 2022
RAB3GAP23Mar 1, 2023
RAB9B2Mar 1, 2023
RAC11Mar 1, 2023
RAC32Mar 1, 2023
RAD211May 19, 2022
RAD508Apr 20, 2026
RAD51C1Mar 1, 2023
RAD51D4Mar 1, 2023
RAD51L3-RFFL4Mar 1, 2023
RAD54L3Mar 1, 2023
RAF12Mar 1, 2023
RAG11Mar 1, 2023
RAG21Mar 1, 2023
RAI15Jul 30, 2025
RALGAPA11May 19, 2022
RANBP171May 19, 2022
RANBP23Mar 1, 2023
RARS11Jul 30, 2025
RARS23Apr 20, 2026
RASA11May 19, 2022
RASGRP13Jul 30, 2025
RAX1Mar 1, 2023
RB12Mar 1, 2023
RB1CC11Apr 20, 2026
RBBP81May 11, 2022
RBCK12May 25, 2022
RBL21Jul 30, 2025
RBM201Jul 30, 2025
RBMX2Jul 30, 2025
RDH121Apr 20, 2026
RDH51May 25, 2022
RECQL44May 2, 2023
REEP21May 25, 2022
RELA1Jul 30, 2025
RELN6Mar 1, 2023
RERE12Apr 20, 2026
RET5Dec 12, 2023
RFX4-AS12May 25, 2022
RFX76Jul 30, 2025
RFXANK1May 11, 2022
RHOBTB21May 19, 2022
RHOH1Apr 20, 2026
RIF14Mar 1, 2023
RINT11Mar 1, 2023
RIPK14Mar 1, 2023
RNASEH2A2Mar 1, 2023
RNASEH2B2Jul 30, 2025
RNF113A1May 25, 2022
RNF131Jul 30, 2025
RNF142Mar 1, 2023
RNF1682Jul 30, 2025
RNF22Jul 30, 2025
RNF2133Jul 30, 2025
RNF213-AS12Jul 30, 2025
RNF435Jul 30, 2025
RNU4ATAC3Mar 1, 2023
ROR21May 11, 2022
RORA2Jul 30, 2025
RORA-AS12Jul 30, 2025
RORB3Jul 30, 2025
RPGRIP11Mar 1, 2023
RPGRIP1L1May 25, 2022
RPL101May 19, 2022
RPL111Mar 1, 2023
RPL181Jul 30, 2025
RPL271May 11, 2022
RPL36A-HNRNPH22Jun 27, 2025
RPL53Apr 20, 2026
RPS171Jul 30, 2025
RPS262Jul 30, 2025
RPS6KA33Mar 1, 2023
RREB11May 25, 2022
RSPH11May 11, 2022
RSRC11Jul 30, 2025
RTN22Jul 30, 2025
RTN4IP13Mar 1, 2023
RTTN4Jul 30, 2025
RUNX21Mar 1, 2023
RUVBL11Jul 30, 2025
RYR113Dec 12, 2023
SACS9Jul 30, 2025
SALL11May 11, 2022
SALL41May 11, 2022
SAMD121May 19, 2022
SAMD9L3Mar 1, 2023
SAMHD11May 19, 2022
SARS11May 19, 2022
SASH32Apr 20, 2026
SATB11Mar 1, 2023
SATB22Jul 30, 2025
SBDS2Mar 1, 2023
SBF12May 25, 2022
SCAPER3Apr 20, 2026
SCARB21Mar 1, 2023
SCARNA211Jun 9, 2025
SCN11A1May 25, 2022
SCN1A10May 2, 2023
SCN1A-AS11May 25, 2022
SCN1B1May 25, 2022
SCN2A9Mar 1, 2023
SCN3A4Mar 1, 2023
SCN4A4May 2, 2023
SCN5A4Dec 12, 2023
SCN8A8Mar 1, 2023
SCN9A1May 25, 2022
SCO11Apr 20, 2026
SDHA2May 2, 2023
SDHAF21Mar 1, 2023
SDHB2May 11, 2022
SDHD1May 11, 2022
SDR9C71Jul 30, 2025
SEC23B2Mar 1, 2023
SEC61A11Jul 30, 2025
SELENOI1May 11, 2022
SELENON2Apr 20, 2026
SEMA3A1Jul 30, 2025
SEMA6B1Jul 30, 2025
SERAC11Mar 1, 2023
SERPINA12Mar 1, 2023
SERPINC11May 11, 2022
SERPINF13Jul 30, 2025
SERPING11May 11, 2022
SERPINH11Mar 1, 2023
SET3Jul 30, 2025
SETBP12May 2, 2023
SETD1A2Mar 1, 2023
SETD1B5Jul 30, 2025
SETD23Mar 1, 2023
SETD519Apr 20, 2026
SETX4May 25, 2022
SGCA2Apr 20, 2026
SGCE1Jul 30, 2025
SH3BP21May 25, 2022
SH3PXD2B1Mar 1, 2023
SHANK24May 25, 2022
SHANK35Mar 1, 2023
SHOC23Apr 20, 2026
SHROOM42May 25, 2022
SI1Jul 30, 2025
SIAH11May 2, 2023
SIL11May 25, 2022
SIN3A7Jul 30, 2025
SIX12Mar 1, 2023
SIX51Jul 30, 2025
SIX61May 25, 2022
SKI5Jul 30, 2025
SLC12A21May 19, 2022
SLC12A52May 25, 2022
SLC12A61May 25, 2022
SLC13A52Jul 30, 2025
SLC16A21May 19, 2022
SLC19A11Jul 30, 2025
SLC19A32Mar 1, 2023
SLC1A22Mar 1, 2023
SLC20A21Jul 30, 2025
SLC22A53Apr 20, 2026
SLC25A122Jul 30, 2025
SLC25A201May 25, 2022
SLC25A241May 11, 2022
SLC25A261May 2, 2023
SLC25A381Apr 20, 2026
SLC26A21Mar 1, 2023
SLC26A31Mar 1, 2023
SLC26A5-AS12May 25, 2022
SLC29A31Jul 30, 2025
SLC2A13Mar 1, 2023
SLC30A101Jul 30, 2025
SLC30A91May 25, 2022
SLC35A26Jul 30, 2025
SLC35C11May 25, 2022
SLC35D2-HSD17B32Apr 20, 2026
SLC37A42May 19, 2022
SLC39A81May 25, 2022
SLC3A13Apr 20, 2026
SLC40A11May 11, 2022
SLC46A12Mar 1, 2023
SLC52A22Apr 20, 2026
SLC5A12Mar 1, 2023
SLC5A21May 25, 2022
SLC6A11Mar 1, 2023
SLC6A171May 19, 2022
SLC6A191Jul 30, 2025
SLC6A31May 25, 2022
SLC6A51Mar 1, 2023
SLC6A86Apr 20, 2026
SLC7A92Mar 1, 2023
SLC9A11May 11, 2022
SLC9A61Jul 30, 2025
SLC9A73Jul 30, 2025
SLC9A91Mar 1, 2023
SLFN141Apr 20, 2026
SLITRK22Jul 30, 2025
SLX42Dec 22, 2025
SMAD36Apr 20, 2026
SMAD42Mar 1, 2023
SMAD61May 11, 2022
SMAD71May 2, 2023
SMARCA21Mar 1, 2023
SMARCA42May 2, 2023
SMARCAL11May 25, 2022
SMARCB11May 25, 2022
SMARCC29Apr 20, 2026
SMARCD13Jul 30, 2025
SMC1A1Mar 1, 2023
SMC32Jul 30, 2025
SMCHD12May 2, 2023
SMPD12Mar 1, 2023
SNHG146Jul 30, 2025
SNRPB1Apr 20, 2026
SNX141Jul 30, 2025
SOCS11Mar 1, 2023
SOD11May 25, 2022
SON10Apr 20, 2026
SORD2Jul 30, 2025
SOS12Mar 1, 2023
SOS22Jul 30, 2025
SOST1Mar 1, 2023
SOX115Apr 20, 2026
SOX22Mar 1, 2023
SOX2-OT2Mar 1, 2023
SOX44Jul 30, 2025
SOX52Mar 1, 2023
SOX67Apr 20, 2026
SP1101Mar 1, 2023
SP1401Mar 1, 2023
SPAST6Jul 30, 2025
SPEN17Apr 20, 2026
SPG114May 19, 2022
SPG76Apr 20, 2026
SPI11Jul 30, 2025
SPINK54Apr 20, 2026
SPPL2A1Apr 20, 2026
SPRED11Jul 30, 2025
SPTA12Mar 1, 2023
SPTAN19Apr 20, 2026
SPTB1May 11, 2022
SPTBN18Apr 20, 2026
SPTBN25May 25, 2022
SQSTM15May 2, 2023
SRCAP5May 25, 2022
SRD5A21Jul 30, 2025
SRPRA1May 19, 2022
SRPX21May 19, 2022
SRRM28Apr 20, 2026
SRY1Mar 1, 2023
ST20-MTHFS1Jun 27, 2025
ST3GAL31May 11, 2022
STAG12Jul 30, 2025
STAG23May 2, 2023
STAT13Mar 1, 2023
STAT33May 2, 2023
STAT41Mar 1, 2023
STAT5B2Apr 7, 2026
STEAP31May 25, 2022
STIM11Jun 6, 2023
STK115May 2, 2023
STON1-GTF2A1L4May 2, 2023
STS1May 11, 2022
STT3A1May 2, 2023
STUB11Mar 1, 2023
STX111May 2, 2023
STX1B1Mar 1, 2023
STXBP19Jul 30, 2025
STXBP31Jun 12, 2023
SUCLA22Jul 30, 2025
SUMF13Jul 30, 2025
SUPT16H2Jul 30, 2025
SURF13Mar 1, 2023
SYK4Apr 20, 2026
SYN11May 2, 2023
SYNE11May 19, 2022
SYNE26Apr 20, 2026
SYNGAP115Apr 20, 2026
SYNGAP1-AS114Apr 20, 2026
SYP1Jul 30, 2025
TAB23Jul 30, 2025
TAF11May 2, 2023
TALDO11May 25, 2022
TANC28Apr 20, 2026
TANGO24Jul 30, 2025
TAOK12Jul 30, 2025
TAOK22May 25, 2022
TAPBPL1Mar 1, 2023
TARDBP1May 25, 2022
TARS21Apr 20, 2026
TASP11May 11, 2022
TBC1D241May 11, 2022
TBC1D2B1May 11, 2022
TBCD6Mar 1, 2023
TBCE1May 25, 2022
TBCK3Jul 30, 2025
TBK11May 25, 2022
TBR18Jul 30, 2025
TBX181May 19, 2022
TBX21May 2, 2023
TBX51Apr 20, 2026
TBX63Mar 1, 2023
TCF121Mar 1, 2023
TCF208Apr 20, 2026
TCF31May 25, 2022
TCF44May 2, 2023
TCOF14Jul 30, 2025
TECPR22May 25, 2022
TELO21Apr 20, 2026
TENT5A1May 11, 2022
TERT2May 11, 2022
TET34Apr 20, 2026
TFE31May 19, 2022
TFG1May 25, 2022
TG1Mar 1, 2023
TGFB22Jul 30, 2025
TGFBR13May 19, 2022
TGFBR21Mar 1, 2023
TGM13Apr 20, 2026
TGM63Jul 30, 2025
THOC24Jul 30, 2025
TIMMDC11May 25, 2022
TINF21May 25, 2022
TJP21Mar 1, 2023
TK21Mar 1, 2023
TKT1May 19, 2022
TLK11Jun 12, 2023
TLK22Jul 30, 2025
TLR21May 2, 2023
TLR81Jul 30, 2025
TLR8-AS11Jul 30, 2025
TMC11May 2, 2023
TMCO11Apr 20, 2026
TMEM106B2Jul 30, 2025
TMEM1271May 2, 2023
TMEM1381Jul 30, 2025
TMEM431May 25, 2022
TMEM531Apr 20, 2026
TMEM63A3Jul 30, 2025
TMEM672May 11, 2022
TMEM941Jul 30, 2025
TMLHE1Jul 30, 2025
TMPRSS153Jul 30, 2025
TMTC32Apr 20, 2026
TMX2-CTNND11Jun 9, 2025
TNFAIP34Jul 30, 2025
TNFRSF13B9Mar 1, 2023
TNFRSF1A3Mar 1, 2023
TNIK1May 19, 2022
TNNI21May 11, 2022
TNNI3K3Jul 30, 2025
TNNT21May 2, 2023
TNRC6B7Jul 30, 2025
TNXB6Jan 9, 2024
TOE13Jul 30, 2025
TOM14Jul 30, 2025
TONSL1Apr 20, 2026
TONSL-AS11Apr 20, 2026
TOP2B1Jul 30, 2025
TOP3A1May 19, 2022
TOR1A2Jun 6, 2023
TP537Dec 12, 2023
TP53BP11Apr 20, 2026
TP631Mar 1, 2023
TP731Jul 30, 2025
TPM11May 19, 2022
TPM31Mar 1, 2023
TRAF72Mar 1, 2023
TRAPPC122May 25, 2022
TRAPPC2L1May 2, 2023
TRAPPC41May 11, 2022
TRAPPC91Apr 20, 2026
TRDN1May 2, 2023
TREX15Mar 1, 2023
TRIM141Jun 27, 2025
TRIM321Mar 1, 2023
TRIM371May 25, 2022
TRIM711May 11, 2022
TRIO9May 2, 2023
TRIOBP1May 25, 2022
TRIP125Jul 30, 2025
TRIT12Jul 30, 2025
TRMT10A1May 19, 2022
TRMT10C1May 25, 2022
TRPC31Jul 30, 2025
TRPM31May 11, 2022
TRPM61May 2, 2023
TRPM71May 11, 2022
TRPV43May 25, 2022
TRRAP7Mar 1, 2023
TSC11May 19, 2022
TSC24May 2, 2023
TSFM2May 25, 2022
TSHR1May 2, 2023
TSHR-AS11May 2, 2023
TSHZ11Apr 20, 2026
TSLIG21Jun 12, 2023
TSPAN72Jul 30, 2025
TTC191Apr 20, 2026
TTC21B1May 19, 2022
TTC21B-AS11May 19, 2022
TTC7A1May 25, 2022
TTN27Dec 12, 2023
TTN-AS117Dec 12, 2023
TTR2Dec 12, 2023
TUBA1A1Mar 1, 2023
TUBA81Jul 30, 2025
TUBB2A2May 25, 2022
TUBB2B1Jul 30, 2025
TUBB31May 25, 2022
TUBB4A2Mar 1, 2023
TUBGCP42Apr 20, 2026
TUBGCP66Jul 30, 2025
TWNK1May 25, 2022
TYK23Apr 20, 2026
TYMP1Jul 30, 2025
UBA21Apr 20, 2026
UBAP13Jul 30, 2025
UBE2T1Jul 30, 2025
UBE3A6Jul 30, 2025
UBTF2Mar 1, 2023
UGDH3Apr 20, 2026
UMOD1Apr 20, 2026
UNC1191May 25, 2022
UNC13D4May 25, 2022
UNC45A2May 19, 2022
UNC805Jul 30, 2025
UPF3B1Jul 30, 2025
UQCRC11Jul 30, 2025
UQCRC22Apr 20, 2026
UROC11Jul 30, 2025
UROD1May 11, 2022
UROS1May 11, 2022
USH1C1May 25, 2022
USH2A5Mar 1, 2023
USH2A-AS21Mar 1, 2023
USP76Apr 20, 2026
USP9X1Mar 1, 2023
VAMP11Mar 1, 2023
VARS13May 19, 2022
VARS24Mar 1, 2023
VHL4Dec 12, 2023
VLDLR2May 19, 2022
VMA211May 19, 2022
VMA221Jun 27, 2025
VPS13A5Jul 30, 2025
VPS13B2Jul 30, 2025
VPS13C1Jul 30, 2025
VPS13D2Jul 30, 2025
VPS161Apr 20, 2026
VPS33B2Mar 1, 2023
VPS411May 2, 2023
VPS4A1Jul 30, 2025
VSNL11Jun 12, 2023
VWA11Jul 30, 2025
VWF1May 2, 2023
WAC7Apr 20, 2026
WAS4Mar 1, 2023
WASF11Jul 30, 2025
WASHC42May 25, 2022
WASHC52Mar 1, 2023
WBP115Apr 20, 2026
WDFY310Jul 30, 2025
WDFY3-AS11Jul 30, 2025
WDR264Jul 30, 2025
WDR375Jul 30, 2025
WDR454Jul 30, 2025
WDR622Apr 20, 2026
WDR732Jul 30, 2025
WFS18Feb 22, 2024
WIPF11Jul 30, 2025
WIPI21Jul 30, 2025
WLS1May 2, 2023
WNK11May 19, 2022
WNT11May 11, 2022
WNT5A1Jul 30, 2025
WT15Dec 12, 2023
WWOX5May 25, 2022
XIAP6Jul 30, 2025
XK1Jul 30, 2025
XPA1May 2, 2023
XPC5Jul 30, 2025
XPR11May 25, 2022
XRCC22Mar 1, 2023
XRCC31May 2, 2023
YARS21May 25, 2022
YWHAG2Jul 30, 2025
ZBTB161May 25, 2022
ZBTB184Apr 20, 2026
ZBTB203Jul 30, 2025
ZBTB7A2Jul 30, 2025
ZC4H22Mar 1, 2023
ZDHHC247Apr 20, 2026
ZDHHC92Jul 30, 2025
ZEB24Apr 20, 2026
ZFHX32Sep 17, 2025
ZFHX3-AS12Sep 17, 2025
ZFHX42Jul 30, 2025
ZFYVE262May 25, 2022
ZIC11May 25, 2022
ZIC22Jul 30, 2025
ZMIZ14Apr 20, 2026
ZMYM26Apr 20, 2026
ZMYM31Jul 30, 2025
ZMYND102Mar 1, 2023
ZMYND111Apr 20, 2026
ZMYND81May 19, 2022
ZNF1483Jul 30, 2025
ZNF2763Jun 9, 2025
ZNF29210Jul 30, 2025
ZNF46212Apr 20, 2026
ZNF4692May 11, 2022
ZNF6271Mar 1, 2023
ZNF6992Jul 30, 2025
ZNF7114Apr 20, 2026
ZNFX12Mar 1, 2023
ZSWIM64May 2, 2023
ZSWIM71Mar 1, 2023

Condition

NameSubmissionsLast Updated
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia2Mar 1, 2023
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Jul 30, 2025
3-hydroxyisobutyryl-CoA hydrolase deficiency2Jun 27, 2025
3-methylcrotonyl-CoA carboxylase 1 deficiency5Apr 20, 2026
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Mar 1, 2023
3M syndrome 12Jun 9, 2025
3M syndrome 22Jun 27, 2025
3MC syndrome 22Jun 9, 2025
46,XY sex reversal 11Mar 1, 2023
46,XY sex reversal 62Apr 20, 2026
5-Oxoprolinase deficiency2Jun 27, 2025
8q24.3 microdeletion syndrome5Jul 30, 2025
ACCES syndrome1Apr 20, 2026
ACTH-independent macronodular adrenal hyperplasia 21Jun 3, 2025
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder4Apr 20, 2026
ADULT syndrome1Mar 1, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3Jun 3, 2025
Abetalipoproteinaemia1Mar 1, 2023
Abnormal cardiovascular system morphology1May 11, 2022
Abnormal heart morphology1May 11, 2022
Abnormal vertebral body morphology1May 11, 2022
Abortive cerebellar ataxia2Apr 5, 2023
Acne inversa, familial, 11Jun 27, 2025
Acrocephalosyndactyly type I1Mar 1, 2023
Acrodysostosis 2 with or without hormone resistance2Jun 27, 2025
Acrofacial dysostosis Cincinnati type3Jun 27, 2025
Acromelic frontonasal dysostosis1May 2, 2023
Acromesomelic dysplasia 1, Maroteaux type1May 2, 2023
Acromicric dysplasia2May 2, 2023
Action myoclonus-renal failure syndrome1Mar 1, 2023
Acyl-CoA dehydrogenase 9 deficiency3Jun 3, 2025
Adams-Oliver syndrome 12Jun 3, 2025
Adrenoleukodystrophy3Mar 1, 2023
Adult hypophosphatasia1May 2, 2023
Agammaglobulinemia 10, autosomal dominant1Jul 30, 2025
Agammaglobulinemia 7, autosomal recessive1May 11, 2022
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1May 11, 2022
Aicardi-Goutieres syndrome 12Mar 1, 2023
Aicardi-Goutieres syndrome 22Jul 30, 2025
Aicardi-Goutieres syndrome 42Mar 1, 2023
Aicardi-Goutieres syndrome 61May 2, 2023
Aicardi-Goutieres syndrome 71May 11, 2022
Alacrima, achalasia, and intellectual disability syndrome1Apr 20, 2026
Alagille syndrome due to a JAG1 point mutation3Mar 1, 2023
Aldosterone-producing adenoma with seizures and neurological abnormalities2Mar 1, 2023
Alexander disease1May 2, 2023
Alkaptonuria2Apr 20, 2026
Alpha thalassemia-X-linked intellectual disability syndrome2May 2, 2023
Alpha-1-antitrypsin deficiency1Mar 1, 2023
Alstrom syndrome7Apr 20, 2026
Alternating hemiplegia of childhood 11May 2, 2023
Alternating hemiplegia of childhood 22May 11, 2022
Alzheimer disease 41May 2, 2023
Alzheimer disease 91May 11, 2022
Ambiguous genitalia1May 11, 2022
Amyloidosis, hereditary systemic 11May 2, 2023
Amyotrophic lateral sclerosis type 193May 2, 2023
Amyotrophic lateral sclerosis type 211Jun 27, 2025
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1May 11, 2022
Androgen resistance syndrome2Mar 1, 2023
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Mar 1, 2023
Aneurysm-osteoarthritis syndrome5Apr 20, 2026
Angelman syndrome3Jul 30, 2025
Angioedema, hereditary, 61Mar 1, 2023
Anophthalmia/microphthalmia-esophageal atresia syndrome2Mar 1, 2023
Anterior segment dysgenesis 72Apr 20, 2026
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2Mar 1, 2023
Aortic valve disease 11Mar 1, 2023
Arginase deficiency2Jun 27, 2024
Argininosuccinate lyase deficiency2Jun 3, 2025
Armfield syndrome1Apr 20, 2026
Aromatase deficiency2Mar 1, 2023
Arrhinia with choanal atresia and microphthalmia syndrome1May 2, 2023
Arrhythmogenic right ventricular dysplasia 103Jul 2, 2025
Arthrogryposis multiplex congenita 52Jun 6, 2023
Arthrogryposis, distal, IIa 111May 2, 2023
Arthrogryposis, distal, with impaired proprioception and touch3Mar 1, 2023
Arthrogryposis, renal dysfunction, and cholestasis 12Mar 1, 2023
Aspartylglucosaminuria1Jun 3, 2025
Asphyxiating thoracic dystrophy 34Apr 20, 2026
Asthma1May 11, 2022
Astrocytoma1May 11, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome6Apr 20, 2026
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1Mar 1, 2023
Ataxia-pancytopenia syndrome2Mar 1, 2023
Ataxia-telangiectasia syndrome3Mar 1, 2023
Ataxia-telangiectasia-like disorder 21Apr 20, 2026
Ateleiotic dwarfism1Mar 1, 2023
Atrial conduction disease3Jul 30, 2025
Atrial fibrillation, familial, 101May 2, 2023
Atrial septal defect 91Mar 1, 2023
Atrophia bulborum hereditaria1May 11, 2022
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Apr 20, 2026
Au-Kline syndrome4Apr 20, 2026
Auditory hallucination1May 11, 2022
Auditory neuropathy-optic atrophy syndrome2Jun 9, 2025
Aural atresia, congenital1Apr 20, 2026
Auriculocondylar syndrome 24Apr 20, 2026
Autism spectrum disorder1May 2, 2023
Autism spectrum disorder due to AUTS2 deficiency7Jun 3, 2025
Autism, susceptibility to, 161Mar 1, 2023
Autism, susceptibility to, X-linked 31May 11, 2022
Autistic behavior1May 11, 2022
Autoimmune disease, multisystem, infantile-onset, 31Jun 9, 2025
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome3Mar 1, 2023
Autoimmune interstitial lung disease-arthritis syndrome3Jun 9, 2025
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency2Mar 1, 2023
Autoimmune thyroid disease, susceptibility to, 31Mar 1, 2023
Autoinflammation with arthritis and dyskeratosis1May 11, 2022
Autoinflammation, immune dysregulation, and eosinophilia4Jun 27, 2025
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2Mar 1, 2023
Autoinflammatory disease, X-linked1Mar 1, 2023
Autoinflammatory syndrome with immunodeficiency1Mar 1, 2023
Autoinflammatory syndrome, familial, Behcet-like2May 11, 2022
Autoinflammatory syndrome, familial, Behcet-like 13Jul 30, 2025
Autoinflammatory syndrome, familial, X-linked, Behcet-like 22Apr 20, 2026
Autosomal dominant Charcot-Marie-Tooth disease type 2W1May 11, 2022
Autosomal dominant Parkinson disease 82Apr 20, 2026
Autosomal dominant Robinow syndrome 11Jul 30, 2025
Autosomal dominant Robinow syndrome 31Mar 1, 2023
Autosomal dominant auditory neuropathy 11Jun 9, 2025
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Mar 1, 2023
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Mar 1, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome9Apr 20, 2026
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1May 11, 2022
Autosomal dominant nonsyndromic hearing loss 171Mar 1, 2023
Autosomal dominant nonsyndromic hearing loss 201Mar 1, 2023
Autosomal dominant nonsyndromic hearing loss 221Mar 1, 2023
Autosomal dominant nonsyndromic hearing loss 231Mar 1, 2023
Autosomal dominant nonsyndromic hearing loss 361May 2, 2023
Autosomal dominant nonsyndromic hearing loss 401May 2, 2023
Autosomal dominant nonsyndromic hearing loss 51May 2, 2023
Autosomal dominant nonsyndromic hearing loss 671Mar 1, 2023
Autosomal dominant optic atrophy classic form3Mar 1, 2023
Autosomal dominant osteopetrosis 11May 11, 2022
Autosomal dominant osteopetrosis 21Mar 1, 2023
Autosomal dominant thrombocytopenia1May 11, 2022
Autosomal recessive Alport syndrome1May 2, 2023
Autosomal recessive Robinow syndrome1May 11, 2022
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Jul 30, 2025
Autosomal recessive congenital ichthyosis 13Apr 20, 2026
Autosomal recessive congenital ichthyosis 101Jun 27, 2025
Autosomal recessive congenital ichthyosis 21Mar 1, 2023
Autosomal recessive congenital ichthyosis 62Jun 27, 2025
Autosomal recessive early-onset Parkinson disease 231Jul 30, 2025
Autosomal recessive inherited pseudoxanthoma elasticum1Mar 1, 2023
Autosomal recessive juvenile Parkinson disease 21Mar 1, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2B1May 11, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D1Apr 20, 2026
Autosomal recessive limb-girdle muscular dystrophy type 2J5Mar 1, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2L1Mar 15, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2U2Mar 1, 2023
Autosomal recessive multiple pterygium syndrome1Mar 1, 2023
Autosomal recessive nonsyndromic hearing loss 122Mar 1, 2023
Autosomal recessive nonsyndromic hearing loss 18B1Jun 27, 2025
Autosomal recessive nonsyndromic hearing loss 1A2Mar 1, 2023
Autosomal recessive nonsyndromic hearing loss 251Apr 20, 2026
Autosomal recessive nonsyndromic hearing loss 32Jun 27, 2025
Autosomal recessive nonsyndromic hearing loss 301Jun 27, 2025
Autosomal recessive nonsyndromic hearing loss 352Jun 9, 2025
Autosomal recessive nonsyndromic hearing loss 91May 2, 2023
Autosomal recessive osteopetrosis 41Mar 1, 2023
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity1Jun 9, 2025
Autosomal recessive spastic paraplegia type 762May 11, 2022
Autosomal recessive spinocerebellar ataxia 102Jun 3, 2025
Autosomal recessive spinocerebellar ataxia 131May 11, 2022
Autosomal recessive spinocerebellar ataxia 142May 11, 2022
Autosomal recessive spinocerebellar ataxia 161Mar 1, 2023
Autosomal recessive spinocerebellar ataxia 171Jun 9, 2025
Autosomal recessive spinocerebellar ataxia 181Jun 27, 2025
Autosomal recessive spinocerebellar ataxia 21Jun 27, 2025
Autosomal recessive spinocerebellar ataxia 201Jul 30, 2025
Autosomal systemic lupus erythematosus type 163Jun 9, 2025
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1Jul 30, 2025
B4GALT1-congenital disorder of glycosylation1May 2, 2023
BAP1-related tumor predisposition syndrome2Mar 1, 2023
BENTA disease1May 2, 2023
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 193Mar 1, 2023
Baller-Gerold syndrome1May 2, 2023
Baraitser-Winter syndrome 12Mar 1, 2023
Bardet-Biedl syndrome 17Apr 20, 2026
Bardet-Biedl syndrome 105Jun 3, 2025
Bardet-Biedl syndrome 111Mar 1, 2023
Bardet-Biedl syndrome 122Apr 20, 2026
Bardet-Biedl syndrome 21May 11, 2022
Bardet-Biedl syndrome 61May 11, 2022
Barrett esophagus2May 2, 2023
Basal laminar drusen1May 2, 2023
Basilicata-Akhtar syndrome1Jun 27, 2025
Beck-Fahrner syndrome4Apr 20, 2026
Beta-thalassemia HBB/LCRB2Mar 1, 2023
Bethlem myopathy 1A3Mar 1, 2023
Bifunctional peroxisomal enzyme deficiency1May 11, 2022
Bilateral parasagittal parieto-occipital polymicrogyria1May 2, 2023
Biotin-responsive basal ganglia disease1Mar 1, 2023
Biotinidase deficiency4Jun 9, 2025
Birk-Barel syndrome1Apr 20, 2026
Birt-Hogg-Dube syndrome1Mar 1, 2023
Blau syndrome1May 2, 2023
Blepharocheilodontic syndrome 21Jun 9, 2025
Blepharophimosis - intellectual disability syndrome, MKB type3Mar 1, 2023
Blepharophimosis - intellectual disability syndrome, SBBYS type2Mar 1, 2023
Blepharophimosis, ptosis, and epicanthus inversus syndrome1May 2, 2023
Bloom syndrome4Apr 20, 2026
Bohring-Opitz syndrome1Mar 1, 2023
Bone marrow failure syndrome 31Mar 1, 2023
Borjeson-Forssman-Lehmann syndrome2Apr 20, 2026
Bosch-Boonstra-Schaaf optic atrophy syndrome1Jun 27, 2025
Brachycephaly1May 11, 2022
Brachydactyly type A1C1Mar 1, 2023
Brain malformations with or without urinary tract defects2Jun 27, 2025
Branchiootic syndrome 31Mar 1, 2023
Branchiootorenal syndrome 21Jul 30, 2025
Breast cancer, susceptibility to1May 11, 2022
Breast carcinoma5Jun 12, 2023
Breast-ovarian cancer, familial, susceptibility to, 116Jul 2, 2025
Breast-ovarian cancer, familial, susceptibility to, 224Jan 24, 2024
Breast-ovarian cancer, familial, susceptibility to, 31Mar 1, 2023
Breast-ovarian cancer, familial, susceptibility to, 44Mar 1, 2023
Brittle cornea syndrome 12May 11, 2022
Bronchiectasis with or without elevated sweat chloride 11Mar 1, 2023
Brown-Vialetto-van Laere syndrome 22Apr 20, 2026
Bruck syndrome 11May 11, 2022
Bruck syndrome 22Apr 20, 2026
Brugada syndrome 41May 11, 2022
Brugada syndrome 81May 2, 2023
Brunet-Wagner neurodevelopmental syndrome1Jul 30, 2025
Buratti-Harel syndrome1May 2, 2023
C1Q deficiency 21May 2, 2023
CCDC115-CDG1Jun 27, 2025
CHARGE syndrome3Mar 1, 2023
CHEK2-related cancer predisposition2Mar 1, 2023
CNS demyelination1May 11, 2022
COG1 congenital disorder of glycosylation2Jun 9, 2025
COG5-congenital disorder of glycosylation2Apr 20, 2026
COG7 congenital disorder of glycosylation2Apr 20, 2026
CTCF-related neurodevelopmental disorder1Apr 20, 2026
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Mar 1, 2023
Candidiasis, familial, 61Mar 1, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome6Apr 20, 2026
Cardiac arrhythmia, ankyrin-B-related1May 11, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2May 11, 2022
Cardiac, facial, and digital anomalies with developmental delay2Mar 1, 2023
Cardiofaciocutaneous syndrome 21Mar 1, 2023
Cardiofaciocutaneous syndrome 42Jun 27, 2025
Cardiofacioneurodevelopmental syndrome1Mar 1, 2023
Cardiomyopathy1May 11, 2022
Cardiomyopathy, familial hypertrophic 273Apr 20, 2026
Carnitine palmitoyl transferase 1A deficiency1Jun 9, 2025
Carnitine palmitoyl transferase II deficiency, severe infantile form1May 2, 2023
Cataract1May 11, 2022
Cataract 1 multiple types5Apr 20, 2026
Cataract 13 with adult I phenotype1May 11, 2022
Cataract 181Apr 20, 2026
Cataract 231Apr 20, 2026
Cataract 3 multiple types1Mar 1, 2023
Cataract 4 multiple types1Jun 9, 2025
Cataract 411Mar 1, 2023
Cataract 5 multiple types1Mar 1, 2023
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1Jun 27, 2025
Catecholaminergic polymorphic ventricular tachycardia 51May 2, 2023
Central core myopathy1Mar 1, 2023
Cerebellar ataxia1May 11, 2022
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects2Jun 9, 2025
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Mar 1, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities3Jun 9, 2025
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1Jul 30, 2025
Cerebellar-facial-dental syndrome2Jun 9, 2025
Cerebral cavernous malformation 21Jun 9, 2025
Cerebral cavernous malformation 31Mar 1, 2023
Cerebro-costo-mandibular syndrome1Apr 20, 2026
Cerebrooculofacioskeletal syndrome 41May 11, 2022
Charcot-Marie-Tooth disease axonal type 2O2May 2, 2023
Charcot-Marie-Tooth disease axonal type 2X1May 11, 2022
Charcot-Marie-Tooth disease recessive intermediate A1Mar 1, 2023
Charcot-Marie-Tooth disease type 1B1Mar 1, 2023
Charcot-Marie-Tooth disease type 4B31May 11, 2022
Charcot-Marie-Tooth disease type 4K1May 11, 2022
Charlevoix-Saguenay spastic ataxia6Jul 30, 2025
Childhood hypophosphatasia2Mar 1, 2023
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder2Mar 1, 2023
Childhood-onset short-trunk short stature1May 11, 2022
Chilton-Okur-Chung neurodevelopmental syndrome5Jun 9, 2025
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome1May 2, 2023
Cholestanol storage disease1Mar 1, 2023
Cholestasis1May 11, 2022
Cholestasis, progressive familial intrahepatic, 41Mar 1, 2023
Cholestasis, progressive familial intrahepatic, 51May 11, 2022
Cholestasis-pigmentary retinopathy-cleft palate syndrome2May 2, 2023
Chondrosarcoma1May 2, 2023
Chopra-Amiel-Gordon syndrome6Jun 3, 2025
Christianson syndrome1Jul 30, 2025
Chromosome 16p12.1 deletion syndrome, 520kb1Jun 12, 2023
Chromosome 1p36 deletion syndrome1May 11, 2022
Chromosome 1q21.1 duplication syndrome1May 25, 2022
Chromosome 22q11.2 microduplication syndrome1Jun 12, 2023
Chromosome 2q32-q33 deletion syndrome1Jul 30, 2025
Chromosome 2q37 deletion syndrome2May 25, 2022
Chromosome 9p deletion syndrome1May 11, 2022
Chronic diarrhea1May 11, 2022
Chronic obstructive pulmonary disease1May 11, 2022
Chudley-McCullough syndrome1Jun 27, 2025
Chuvash polycythemia2May 2, 2023
Chédiak-Higashi syndrome2May 11, 2022
Ciliary dyskinesia, primary, 47, and lissencephaly1Jul 30, 2025
Clark-Baraitser syndrome3Jul 30, 2025
Classic homocystinuria1May 11, 2022
Cleft lip1May 11, 2022
Cleft palate1May 11, 2022
Cleidocranial dysostosis1Mar 1, 2023
Cobalamin C disease3Mar 1, 2023
Cobblestone lissencephaly without muscular or ocular involvement3Jun 27, 2025
Coenzyme Q10 deficiency, primary, 31May 2, 2023
Coffin-Siris syndrome 119Apr 20, 2026
Coffin-Siris syndrome 103Jul 30, 2025
Coffin-Siris syndrome 113Jul 30, 2025
Coffin-Siris syndrome 126Jun 9, 2025
Coffin-Siris syndrome 67Apr 20, 2026
Coffin-Siris syndrome 72Jun 9, 2025
Coffin-Siris syndrome 86Apr 20, 2026
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome3Jun 3, 2025
Cognitive impairment with or without cerebellar ataxia3Mar 1, 2023
Cohen syndrome1Jul 30, 2025
Colon cancer1May 11, 2022
Colorectal cancer2Jun 3, 2025
Colorectal cancer, hereditary nonpolyposis, type 27Dec 22, 2025
Colorectal cancer, hereditary nonpolyposis, type 71May 2, 2023
Colorectal cancer, susceptibility to, 103Mar 1, 2023
Colorectal cancer, susceptibility to, 125Mar 1, 2023
Colorectal cancer, susceptibility to, 31May 2, 2023
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1Mar 1, 2023
Combined immunodeficiency due to CD3gamma deficiency2Apr 20, 2026
Combined immunodeficiency due to DOCK8 deficiency7Apr 20, 2026
Combined immunodeficiency due to LRBA deficiency7Apr 20, 2026
Combined immunodeficiency due to STIM1 deficiency1Jun 6, 2023
Combined immunodeficiency with skin granulomas1Mar 1, 2023
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21May 11, 2022
Combined oxidative phosphorylation defect type 151May 2, 2023
Combined oxidative phosphorylation defect type 202Mar 1, 2023
Combined oxidative phosphorylation defect type 211Apr 20, 2026
Combined oxidative phosphorylation defect type 242Mar 1, 2023
Combined oxidative phosphorylation deficiency 281May 2, 2023
Combined oxidative phosphorylation deficiency 351Jul 30, 2025
Combined oxidative phosphorylation deficiency 371Apr 20, 2026
Combined oxidative phosphorylation deficiency 393Jun 27, 2025
Combined oxidative phosphorylation deficiency 442May 11, 2022
Combined oxidative phosphorylation deficiency 554Jun 27, 2025
Complement component 3 deficiency2Mar 1, 2023
Complement component 6 deficiency1May 2, 2023
Complement component 7 deficiency1Jun 9, 2025
Complex cortical dysplasia with other brain malformations 31Apr 20, 2026
Complex cortical dysplasia with other brain malformations 51May 11, 2022
Complex cortical dysplasia with other brain malformations 71Jul 30, 2025
Cone-rod dystrophy 131Mar 1, 2023
Cone-rod dystrophy 152Mar 1, 2023
Cone-rod dystrophy and hearing loss 22Jun 9, 2025
Congenital bile acid synthesis defect 21Jun 3, 2025
Congenital brain dysgenesis due to glutamine synthetase deficiency1Apr 20, 2026
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3Jun 27, 2025
Congenital contractural arachnodactyly2Mar 1, 2023
Congenital contracture1May 11, 2022
Congenital defect of folate absorption1Mar 1, 2023
Congenital diarrhea 62May 2, 2023
Congenital diarrhea 7 with exudative enteropathy1May 2, 2023
Congenital disorder of deglycosylation 21Jun 27, 2025
Congenital disorder of glycosylation with defective fucosylation 21Apr 20, 2026
Congenital disorder of glycosylation, type Iw, autosomal dominant1May 2, 2023
Congenital elevation of scapula1May 11, 2022
Congenital glucose-galactose malabsorption2Mar 1, 2023
Congenital heart defects and ectodermal dysplasia1Jul 30, 2025
Congenital heart defects and skeletal malformations syndrome1May 2, 2023
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder6Jun 9, 2025
Congenital heart defects, multiple types, 23Jul 30, 2025
Congenital heart defects, multiple types, 52Apr 20, 2026
Congenital heart defects, multiple types, 91Jun 27, 2025
Congenital hypotrichosis with juvenile macular dystrophy1May 11, 2022
Congenital ichthyosiform erythroderma1May 11, 2022
Congenital microvillous atrophy1Mar 1, 2023
Congenital multicore myopathy with external ophthalmoplegia2Mar 1, 2023
Congenital myasthenic syndrome 162May 11, 2022
Congenital myasthenic syndrome 4A1Jul 19, 2024
Congenital myasthenic syndrome 4B1Jul 19, 2024
Congenital myasthenic syndrome 4C1Jul 19, 2024
Congenital myopathy with fiber type disproportion1Mar 1, 2023
Congenital omphalocele2May 11, 2022
Congenital reticular ichthyosiform erythroderma1Mar 1, 2023
Congenital secretory diarrhea, chloride type1Mar 1, 2023
Congenital short bowel syndrome, autosomal recessive1Mar 1, 2023
Corneal dystrophy, Fuchs endothelial, 31May 2, 2023
Corneal dystrophy, posterior polymorphous, 41May 2, 2023
Cornelia de Lange syndrome 114Jun 27, 2025
Cornelia de Lange syndrome 31Jul 30, 2025
Cornelia de Lange syndrome 53Apr 20, 2026
Cornelia de Lange-like syndrome1May 2, 2023
Cortical dysplasia, complex, with other brain malformations 101May 11, 2022
Cowden syndrome 12Mar 1, 2023
Cowden syndrome 42May 11, 2022
Cowden syndrome 72Mar 1, 2023
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11Apr 20, 2026
Craniofacial dysplasia - osteopenia syndrome1Jun 27, 2025
Craniofacial microsomia 21Jun 9, 2025
Craniofrontonasal syndrome4Jun 9, 2025
Craniosynostosis 71May 11, 2022
Craniosynostosis syndrome2May 11, 2022
Craniotubular dysplasia, Ikegawa type1Apr 20, 2026
Creatine transporter deficiency5Apr 20, 2026
Crouzon syndrome1May 11, 2022
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1May 11, 2022
Currarino triad1May 11, 2022
Cutaneous mastocytosis1May 11, 2022
Cutaneous porphyria1May 11, 2022
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1May 2, 2023
Cutis laxa, autosomal dominant 31Mar 1, 2023
Cutis laxa, autosomal recessive, type 2E2Jun 27, 2025
Cyclical neutropenia2Mar 1, 2023
Cystic fibrosis7Mar 1, 2023
Cystinuria3Apr 20, 2026
D-2-hydroxyglutaric aciduria 21Jun 27, 2025
DDX41-related hematologic malignancy predisposition syndrome3Jun 9, 2025
DE SANCTIS-CACCHIONE SYNDROME1May 2, 2023
DEGCAGS syndrome2Jul 30, 2025
DNA ligase IV deficiency2May 2, 2023
DOCK2 deficiency2Jun 9, 2025
DYRK1A-related intellectual disability syndrome3Apr 20, 2026
DeSanto-Shinawi syndrome due to WAC point mutation6Apr 20, 2026
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1Jun 27, 2025
Decreased body weight1May 11, 2022
Decreased circulating immunoglobulin concentration2May 11, 2022
Deeah syndrome2May 11, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase4Jun 27, 2025
Deficiency of adenosine deaminase 21Mar 1, 2023
Deficiency of alpha-mannosidase1Jun 27, 2025
Deficiency of butyryl-CoA dehydrogenase1May 2, 2023
Deficiency of cytochrome-b5 reductase1Mar 1, 2023
Deficiency of ferroxidase1May 2, 2023
Deficiency of galactokinase1May 11, 2022
Deficiency of guanidinoacetate methyltransferase1Mar 1, 2023
Deficiency of hydroxymethylglutaryl-CoA lyase1Mar 1, 2023
Deficiency of isobutyryl-CoA dehydrogenase1Mar 1, 2023
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1May 11, 2022
Delayed ability to stand1May 11, 2022
Delayed ability to walk1May 11, 2022
Delayed fine motor development1May 11, 2022
Delayed gross motor development1May 11, 2022
Dementia1May 11, 2022
Dent disease type 11Mar 1, 2023
Dermatitis, atopic, 25Mar 1, 2023
Dermatopathia pigmentosa reticularis1Mar 1, 2023
Desmoid disease, hereditary2Mar 1, 2023
Developmental and epileptic encephalopathy 1011May 2, 2023
Developmental and epileptic encephalopathy 1031Mar 1, 2023
Developmental and epileptic encephalopathy 1081Jun 27, 2025
Developmental and epileptic encephalopathy 1091Jun 27, 2025
Developmental and epileptic encephalopathy 6B2May 2, 2023
Developmental and epileptic encephalopathy 921Jun 27, 2025
Developmental and epileptic encephalopathy 942Apr 20, 2026
Developmental and epileptic encephalopathy, 11Mar 1, 2023
Developmental and epileptic encephalopathy, 113Mar 1, 2023
Developmental and epileptic encephalopathy, 121Jun 27, 2025
Developmental and epileptic encephalopathy, 131Mar 1, 2023
Developmental and epileptic encephalopathy, 143May 2, 2023
Developmental and epileptic encephalopathy, 161May 11, 2022
Developmental and epileptic encephalopathy, 26Apr 20, 2026
Developmental and epileptic encephalopathy, 211Mar 1, 2023
Developmental and epileptic encephalopathy, 231Jun 9, 2025
Developmental and epileptic encephalopathy, 251Jul 30, 2025
Developmental and epileptic encephalopathy, 264Jun 27, 2025
Developmental and epileptic encephalopathy, 281May 11, 2022
Developmental and epileptic encephalopathy, 31A2Mar 1, 2023
Developmental and epileptic encephalopathy, 322Apr 20, 2026
Developmental and epileptic encephalopathy, 362Jun 3, 2025
Developmental and epileptic encephalopathy, 371Mar 1, 2023
Developmental and epileptic encephalopathy, 392Jul 30, 2025
Developmental and epileptic encephalopathy, 47Jul 30, 2025
Developmental and epileptic encephalopathy, 411Mar 1, 2023
Developmental and epileptic encephalopathy, 426Mar 1, 2023
Developmental and epileptic encephalopathy, 431Mar 1, 2023
Developmental and epileptic encephalopathy, 461Mar 1, 2023
Developmental and epileptic encephalopathy, 481Mar 1, 2023
Developmental and epileptic encephalopathy, 491Jun 9, 2025
Developmental and epileptic encephalopathy, 56Apr 20, 2026
Developmental and epileptic encephalopathy, 502Apr 20, 2026
Developmental and epileptic encephalopathy, 546Apr 20, 2026
Developmental and epileptic encephalopathy, 551May 11, 2022
Developmental and epileptic encephalopathy, 561Jul 30, 2025
Developmental and epileptic encephalopathy, 577Jun 27, 2025
Developmental and epileptic encephalopathy, 591May 2, 2023
Developmental and epileptic encephalopathy, 611May 2, 2023
Developmental and epileptic encephalopathy, 621Mar 1, 2023
Developmental and epileptic encephalopathy, 652Jun 9, 2025
Developmental and epileptic encephalopathy, 673Jun 9, 2025
Developmental and epileptic encephalopathy, 692Jun 9, 2025
Developmental and epileptic encephalopathy, 73Mar 1, 2023
Developmental and epileptic encephalopathy, 701Jun 27, 2025
Developmental and epileptic encephalopathy, 721Jun 27, 2025
Developmental and epileptic encephalopathy, 731Jul 30, 2025
Developmental and epileptic encephalopathy, 741Mar 1, 2023
Developmental and epileptic encephalopathy, 762May 2, 2023
Developmental and epileptic encephalopathy, 792Jun 27, 2025
Developmental and epileptic encephalopathy, 81Jun 3, 2025
Developmental and epileptic encephalopathy, 843Apr 20, 2026
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Mar 1, 2023
Developmental and epileptic encephalopathy, 861Apr 20, 2026
Developmental and epileptic encephalopathy, 872Jun 9, 2025
Developmental and epileptic encephalopathy, 92Apr 20, 2026
Developmental delay with autism spectrum disorder and gait instability2Mar 1, 2023
Developmental delay with dysmorphic facies and dental anomalies1Mar 1, 2023
Developmental delay with or without dysmorphic facies and autism2Mar 1, 2023
Developmental delay with or without intellectual impairment or behavioral abnormalities2Jul 30, 2025
Developmental delay with variable intellectual disability and dysmorphic facies3Jun 27, 2025
Developmental delay with variable intellectual impairment and behavioral abnormalities6Apr 20, 2026
Developmental delay with variable neurologic and brain abnormalities2Jun 27, 2025
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders3Jun 3, 2025
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Mar 1, 2023
Developmental delay, impaired speech, and behavioral abnormalities8Apr 20, 2026
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures11Apr 20, 2026
Diamond-Blackfan anemia 102Jul 30, 2025
Diamond-Blackfan anemia 161May 11, 2022
Diamond-Blackfan anemia 181Jul 30, 2025
Diamond-Blackfan anemia 41Jul 30, 2025
Diamond-Blackfan anemia 62Apr 20, 2026
Diamond-Blackfan anemia 71Mar 1, 2023
Diarrhea 10, protein-losing enteropathy type1Apr 20, 2026
Dias-Logan syndrome3Apr 20, 2026
Diastrophic dysplasia1Mar 1, 2023
Diencephalic-mesencephalic junction dysplasia syndrome 12Mar 1, 2023
Diets-Jongmans syndrome6Apr 20, 2026
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1Mar 1, 2023
Dihydropyrimidinase deficiency2Mar 1, 2023
Dilated cardiomyopathy 1D1May 2, 2023
Dilated cardiomyopathy 1DD1Jul 30, 2025
Dilated cardiomyopathy 1G5May 2, 2023
Dilated cardiomyopathy 1GG1May 2, 2023
Dilated cardiomyopathy 1JJ1Apr 20, 2026
Disproportionate short stature1May 11, 2022
Disproportionate tall stature1May 11, 2022
Distal arthrogryposis1May 11, 2022
Distal arthrogryposis type 2B11May 11, 2022
Distal arthrogryposis type 5D2Oct 24, 2025
Distal myopathy with anterior tibial onset1May 11, 2022
Donnai-Barrow syndrome2Jun 27, 2025
Dowling-Degos disease 11May 2, 2023
Duane-radial ray syndrome1May 11, 2022
Duchenne muscular dystrophy1Mar 1, 2023
Dyskeratosis congenita, autosomal dominant 21May 11, 2022
Dyskinesia1May 11, 2022
Dyskinesia with orofacial involvement, autosomal dominant1Mar 1, 2023
Dystonia 121Mar 1, 2023
Dystonia 163Jul 30, 2025
Dystonia 28, childhood-onset1Mar 1, 2023
Dystonia 301Apr 20, 2026
Dystonia 52Mar 1, 2023
Dystonia 91Mar 1, 2023
Dystonic disorder1May 11, 2022
EAST syndrome1May 11, 2022
Early-onset chronic pancreatitis1May 2, 2023
Early-onset myopathy with fatal cardiomyopathy1Mar 1, 2023
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2Mar 1, 2023
Ectodermal dysplasia and immunodeficiency 11May 11, 2022
Ectodermal dysplasia and immunodeficiency 22Jun 27, 2025
Ehlers-Danlos syndrome, arthrochalasia type1Mar 1, 2023
Ehlers-Danlos syndrome, arthrochalasia type, 21May 11, 2022
Ehlers-Danlos syndrome, classic type, 12Mar 1, 2023
Ehlers-Danlos syndrome, classic type, 23Jun 9, 2025
Ehlers-Danlos syndrome, kyphoscoliotic type 16Apr 20, 2026
Ehlers-Danlos syndrome, kyphoscoliotic type, 21Jun 9, 2025
Ehlers-Danlos syndrome, musculocontractural type 12Jun 9, 2025
Ehlers-Danlos syndrome, periodontal type 11Apr 20, 2026
Ehlers-Danlos syndrome, type 41Mar 1, 2023
Eichsfeld type congenital muscular dystrophy1Apr 20, 2026
Elliptocytosis 21Mar 1, 2023
Elliptocytosis 31May 11, 2022
Ellis-van Creveld syndrome3Mar 1, 2023
Elsahy-Waters syndrome1May 2, 2023
Emery-Dreifuss muscular dystrophy 5, autosomal dominant4Apr 20, 2026
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 71Apr 20, 2026
Encephalopathy, acute, infection-induced, susceptibility to, 41Mar 1, 2023
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12May 2, 2023
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis1May 2, 2023
Endometrial carcinoma6Mar 1, 2023
Enterokinase deficiency3Jul 30, 2025
Epidermodysplasia verruciformis, susceptibility to, 41Apr 20, 2026
Epidermolysis bullosa simplex 1A, generalized severe1May 11, 2022
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1May 11, 2022
Epidermolysis bullosa simplex with nail dystrophy1May 2, 2023
Epidermolysis bullosa simplex, Koebner type1May 11, 2022
Epidermolysis bullosa, junctional 4, intermediate1Mar 1, 2023
Epilepsy with myoclonic atonic seizures1Mar 1, 2023
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1May 2, 2023
Epilepsy, familial focal, with variable foci 11Jun 9, 2025
Epilepsy, familial focal, with variable foci 21Jun 27, 2025
Epilepsy, familial focal, with variable foci 31Jun 27, 2025
Epilepsy, familial temporal lobe, 12Jun 27, 2025
Epilepsy, idiopathic generalized, susceptibility to, 101May 2, 2023
Epilepsy, idiopathic generalized, susceptibility to, 153Jul 30, 2025
Epilepsy, progressive myoclonic, 111Jul 30, 2025
Epileptic encephalopathy1May 11, 2022
Epileptic encephalopathy with cognitive deficit1May 2, 2023
Epiphyseal dysplasia, multiple, 21May 11, 2022
Episodic ataxia type 21May 11, 2022
Epsilon-trimethyllysine hydroxylase deficiency1Jul 30, 2025
Ethylmalonic encephalopathy1May 11, 2022
Exocrine pancreatic insufficiency1May 11, 2022
Exostoses, multiple, type 11May 11, 2022
Exostoses, multiple, type 21May 2, 2023
Exudative vitreoretinopathy 71May 2, 2023
FBN1-related disorder1Dec 12, 2023
FG syndrome 42May 2, 2023
FRAXE3Apr 20, 2026
Fabry disease1Mar 1, 2023
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome2Jun 3, 2025
Failure to thrive2May 11, 2022
Failure to thrive in infancy1May 11, 2022
Familial Mediterranean fever, autosomal dominant1Mar 1, 2023
Familial acute necrotizing encephalopathy2Mar 1, 2023
Familial adenomatous polyposis 111May 2, 2023
Familial adenomatous polyposis 28Dec 12, 2023
Familial adenomatous polyposis 34Jun 27, 2025
Familial adenomatous polyposis 43Mar 1, 2023
Familial cancer of breast56Apr 20, 2026
Familial cold autoinflammatory syndrome 11Mar 1, 2023
Familial cold autoinflammatory syndrome 212Apr 20, 2026
Familial cold autoinflammatory syndrome 31May 11, 2022
Familial cold autoinflammatory syndrome 42May 2, 2023
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1Mar 1, 2023
Familial gestational hyperthyroidism1May 2, 2023
Familial hemophagocytic lymphohistiocytosis 41May 2, 2023
Familial juvenile hyperuricemic nephropathy type 11Apr 20, 2026
Familial porphyria cutanea tarda1May 11, 2022
Familial prostate cancer1Jul 30, 2025
Familial temporal lobe epilepsy 71Mar 1, 2023
Familial temporal lobe epilepsy 81Apr 20, 2026
Familial type 3 hyperlipoproteinemia1Mar 1, 2023
Family history of cancer2May 11, 2022
Fanconi anemia complementation group A7Jun 9, 2025
Fanconi anemia complementation group C2Jun 9, 2025
Fanconi anemia complementation group D11May 2, 2023
Fanconi anemia complementation group D24Jun 9, 2025
Fanconi anemia complementation group E5Apr 20, 2026
Fanconi anemia complementation group G2Jun 9, 2025
Fanconi anemia complementation group I2Jun 9, 2025
Fanconi anemia complementation group J2Mar 1, 2023
Fanconi anemia complementation group N1May 11, 2022
Fanconi anemia complementation group P1May 2, 2023
Fanconi anemia complementation group Q2May 11, 2022
Fanconi anemia complementation group T1Jul 30, 2025
Fanconi anemia complementation group U2Mar 1, 2023
Fanconi anemia, complementation group S1May 2, 2023
Fanconi renotubular syndrome 31Mar 1, 2023
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1May 11, 2022
Febrile seizures, familial, 21May 2, 2023
Finnish congenital nephrotic syndrome1Jun 27, 2025
Flexion contracture1May 11, 2022
Floating-Harbor syndrome2May 11, 2022
Focal dermal hypoplasia4Apr 20, 2026
Focal segmental glomerulosclerosis 12Jun 3, 2025
Focal segmental glomerulosclerosis 63Mar 1, 2023
Focal segmental glomerulosclerosis 71Mar 1, 2023
Fontaine progeroid syndrome1May 11, 2022
Frank-Ter Haar syndrome1Mar 1, 2023
Fraser syndrome 15Apr 20, 2026
Fraser syndrome 31May 11, 2022
Freeman-Sheldon syndrome1Mar 1, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31May 2, 2023
GM1 gangliosidosis type 32Mar 1, 2023
GNE myopathy1May 2, 2023
GRACILE syndrome1May 11, 2022
Galactosylceramide beta-galactosidase deficiency5Mar 1, 2023
Galloway-Mowat syndrome 12Jul 30, 2025
Gamma-aminobutyric acid transaminase deficiency1Apr 20, 2026
Gastric adenocarcinoma and proximal polyposis of the stomach1Mar 1, 2023
Gastrointestinal stromal tumor2Mar 1, 2023
Geleophysic dysplasia 21May 11, 2022
Geleophysic dysplasia 31May 11, 2022
Generalized dominant dystrophic epidermolysis bullosa11Jan 13, 2025
Generalized epilepsy with febrile seizures plus, type 22Mar 1, 2023
Generalized epilepsy with febrile seizures plus, type 91Mar 1, 2023
Genitopatellar syndrome3May 2, 2023
Genitourinary and/or brain malformation syndrome3Apr 20, 2026
Giant axonal neuropathy 13Jun 27, 2025
Glaucoma1May 2, 2023
Glaucoma 3A2Mar 1, 2023
Glioma susceptibility 21Mar 1, 2023
Global developmental delay3May 11, 2022
Global developmental delay with or without impaired intellectual development2Apr 20, 2026
Global developmental delay with speech and behavioral abnormalities6Jul 30, 2025
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies3Jul 30, 2025
Glomerulopathy with fibronectin deposits 21Mar 1, 2023
Glomuvenous malformation1Jun 27, 2025
Glucose-6-phosphate transport defect1May 11, 2022
Glutaric aciduria, type 14Jun 24, 2026
Glycine encephalopathy4Mar 1, 2023
Glycine encephalopathy 17Apr 20, 2026
Glycogen storage disease IXa14Mar 1, 2023
Glycogen storage disease IXb5Jun 27, 2025
Glycogen storage disease IXc1Mar 1, 2023
Glycogen storage disease IXd1Mar 1, 2023
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1May 11, 2022
Glycogen storage disease, type II3Jan 30, 2024
Glycogen storage disease, type V3Apr 20, 2026
Glycogen storage disease, type VII1Apr 20, 2026
Glycosylphosphatidylinositol biosynthesis defect 152Mar 1, 2023
Gonadal dysgenesis1May 11, 2022
Gonadal tissue inappropriate for external genitalia or chromosomal sex1May 11, 2022
Granulocytopenia with immunoglobulin abnormality3Jun 27, 2025
Granulomatous disease, chronic, X-linked2May 2, 2023
Granulomatous disease, chronic, autosomal recessive, 51Apr 20, 2026
Gray matter heterotopia1May 11, 2022
Greig cephalopolysyndactyly syndrome1May 11, 2022
Growth delay due to insulin-like growth factor I resistance5Jun 27, 2025
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive2Apr 7, 2026
H syndrome1Jul 30, 2025
Hao-Fountain syndrome2May 2, 2023
Hao-Fountain syndrome due to USP7 mutation4Apr 20, 2026
Hearing impairment3May 11, 2022
Hearing loss, autosomal dominant 372May 2, 2023
Hearing loss, autosomal dominant 811May 2, 2023
Hearing loss, autosomal dominant 821May 2, 2023
Hemivertebrae1May 11, 2022
Hemochromatosis type 12Dec 12, 2023
Hemochromatosis type 41May 11, 2022
Hepatic veno-occlusive disease-immunodeficiency syndrome1Mar 1, 2023
Hepatomegaly1May 11, 2022
Hereditary amyloidosis1Dec 12, 2023
Hereditary angioedema type 11May 11, 2022
Hereditary antithrombin deficiency1May 11, 2022
Hereditary breast ovarian cancer syndrome5Dec 22, 2025
Hereditary diffuse gastric adenocarcinoma3Mar 1, 2023
Hereditary factor VIII deficiency disease1May 11, 2022
Hereditary fructosuria2May 2, 2023
Hereditary intrinsic factor deficiency2Apr 5, 2023
Hereditary lymphedema type I1May 11, 2022
Hereditary nonpolyposis colorectal carcinoma1May 11, 2022
Hereditary pancreatitis3Mar 1, 2023
Hereditary persistence of fetal hemoglobin1Mar 1, 2023
Hereditary spastic paraplegia 112May 11, 2022
Hereditary spastic paraplegia 122Jul 30, 2025
Hereditary spastic paraplegia 151May 11, 2022
Hereditary spastic paraplegia 261May 11, 2022
Hereditary spastic paraplegia 351Jun 9, 2025
Hereditary spastic paraplegia 44Jul 30, 2025
Hereditary spastic paraplegia 451Jun 27, 2025
Hereditary spastic paraplegia 461Jun 27, 2025
Hereditary spastic paraplegia 491May 11, 2022
Hereditary spastic paraplegia 503Jun 3, 2025
Hereditary spastic paraplegia 523Jun 3, 2025
Hereditary spastic paraplegia 561Apr 20, 2026
Hereditary spastic paraplegia 611Jun 3, 2025
Hereditary spastic paraplegia 641Jun 9, 2025
Hereditary spastic paraplegia 76Apr 20, 2026
Hereditary spastic paraplegia 732Jun 9, 2025
Hereditary spherocytosis type 11Jun 3, 2025
Hereditary spherocytosis type 21May 11, 2022
Hermansky-Pudlak syndrome 111May 2, 2023
Hermansky-Pudlak syndrome 61May 2, 2023
Heterotaxy, visceral, 7, autosomal3Apr 20, 2026
Heterotaxy, visceral, 8, autosomal2Apr 20, 2026
Hidrotic ectodermal dysplasia syndrome1Mar 1, 2023
Holocarboxylase synthetase deficiency1May 2, 2023
Holoprosencephaly 12 with or without pancreatic agenesis3May 2, 2023
Holoprosencephaly 13, X-linked1May 2, 2023
Holoprosencephaly 51Jul 30, 2025
Holoprosencephaly 71Mar 1, 2023
Holoprosencephaly 92Mar 1, 2023
Holt-Oram syndrome1Apr 20, 2026
Houge-Janssens syndrome 12Jul 30, 2025
Houge-Janssens syndrome 21Jul 30, 2025
Houge-Janssens syndrome 31Jul 30, 2025
Hyaline fibromatosis syndrome3Dec 7, 2023
Hydrocephalus, congenital communicating, 11May 11, 2022
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2Mar 1, 2023
Hyper-IgE recurrent infection syndrome 5, autosomal recessive1May 11, 2022
Hyper-IgM syndrome type 14Jun 9, 2025
Hyper-IgM syndrome type 23Jun 6, 2023
Hypercholesterolemia, familial, 16Jul 2, 2025
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1Apr 20, 2026
Hyperekplexia 31Mar 1, 2023
Hyperimmunoglobulin D with periodic fever5May 2, 2023
Hyperinsulinism-hyperammonemia syndrome2Jun 27, 2025
Hyperkalemic periodic paralysis4May 2, 2023
Hyperlipoproteinemia, type I1Mar 1, 2023
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1Jul 30, 2025
Hyperphosphatasia with intellectual disability syndrome 21Mar 1, 2023
Hyperphosphatasia with intellectual disability syndrome 43Jun 27, 2025
Hyperpigmentation of the skin1May 11, 2022
Hypertrophic cardiomyopathy 11May 2, 2023
Hypertrophic cardiomyopathy 41Mar 1, 2023
Hypertrophic cardiomyopathy 92May 11, 2022
Hyperuricemic nephropathy, familial juvenile type 41Jul 30, 2025
Hypochondroplasia2May 11, 2022
Hypoglycemia1May 11, 2022
Hypogonadotropic hypogonadism 12 with or without anosmia1Jun 27, 2025
Hypogonadotropic hypogonadism 15 with or without anosmia1Jun 12, 2023
Hypogonadotropic hypogonadism 16 with or without anosmia1Jul 30, 2025
Hypogonadotropic hypogonadism 2 with or without anosmia2Mar 1, 2023
Hypogonadotropic hypogonadism 25 with anosmia1Jun 27, 2025
Hypogonadotropic hypogonadism 26 with or without anosmia1Mar 1, 2023
Hypogonadotropic hypogonadism 4 with or without anosmia1Jul 30, 2025
Hypogonadotropic hypogonadism 5 with or without anosmia1Mar 26, 2022
Hypogonadotropic hypogonadism 7 with or without anosmia1May 2, 2023
Hypohidrotic X-linked ectodermal dysplasia2Mar 1, 2023
Hypokalemic periodic paralysis, type 11Mar 1, 2023
Hypokalemic periodic paralysis, type 22May 11, 2022
Hypomyelinating leukodystrophy 101Mar 1, 2023
Hypomyelinating leukodystrophy 21May 11, 2022
Hypomyelinating leukodystrophy 61Mar 1, 2023
Hypomyelinating leukodystrophy 91Jul 30, 2025
Hypoparathyroidism, deafness, renal disease syndrome1Jun 27, 2025
Hypophosphatemia1May 11, 2022
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1May 11, 2022
Hypotonia2May 11, 2022
Hypotonia, ataxia, and delayed development syndrome3Apr 20, 2026
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Jun 9, 2025
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Jul 30, 2025
Hypotonia, infantile, with psychomotor retardation and characteristic facies 33Jul 30, 2025
Ichthyosis vulgaris5Mar 1, 2023
Ichthyosis, congenital, autosomal recessive 131Jul 30, 2025
Ichthyosis, hystrix-like, with hearing loss1May 11, 2022
Idiopathic basal ganglia calcification 11Jul 30, 2025
Immunodeficiency1May 11, 2022
Immunodeficiency 101 (varicella zoster virus-specific)1Jun 27, 2025
Immunodeficiency 1022Apr 20, 2026
Immunodeficiency 1043Jun 27, 2025
Immunodeficiency 106, susceptibility to viral infections1Mar 1, 2023
Immunodeficiency 141Mar 1, 2023
Immunodeficiency 191Jun 9, 2025
Immunodeficiency 27A1Mar 1, 2023
Immunodeficiency 331May 11, 2022
Immunodeficiency 353Apr 20, 2026
Immunodeficiency 451May 11, 2022
Immunodeficiency 473May 2, 2023
Immunodeficiency 512Apr 20, 2026
Immunodeficiency 571Mar 1, 2023
Immunodeficiency 604Jun 3, 2025
Immunodeficiency 623Jun 3, 2025
Immunodeficiency 643Jul 30, 2025
Immunodeficiency 701Jun 27, 2025
Immunodeficiency 72 with autoinflammation1Apr 20, 2026
Immunodeficiency 777Jun 27, 2025
Immunodeficiency 82 with systemic inflammation4Apr 20, 2026
Immunodeficiency 843Jun 27, 2025
Immunodeficiency 85 and autoimmunity4Jul 30, 2025
Immunodeficiency 861Apr 20, 2026
Immunodeficiency 91 and hyperinflammation2Mar 1, 2023
Immunodeficiency 94 with autoinflammation and dysmorphic facies1May 2, 2023
Immunodeficiency 962Mar 1, 2023
Immunodeficiency 97 with autoinflammation2Jun 27, 2025
Immunodeficiency 98 with autoinflammation, X-linked1Jul 30, 2025
Immunodeficiency, common variable, 106Apr 20, 2026
Immunodeficiency, common variable, 129Apr 20, 2026
Immunodeficiency, common variable, 143Jun 6, 2023
Immunodeficiency, common variable, 27Mar 1, 2023
Immunodeficiency, common variable, 51May 2, 2023
Immunodeficiency, common variable, 73Mar 1, 2023
Immunodeficiency, developmental delay, and hypohomocysteinemia2Jun 27, 2025
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Mar 1, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 33Apr 20, 2026
Immunoglobulin A deficiency 21Mar 1, 2023
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21May 2, 2023
Incontinentia pigmenti syndrome1May 11, 2022
Infantile GM1 gangliosidosis2May 11, 2022
Infantile convulsions and choreoathetosis1May 2, 2023
Infantile hypophosphatasia2May 11, 2022
Infantile liver failure syndrome 22May 11, 2022
Infantile liver failure syndrome 31Mar 1, 2023
Infantile neuroaxonal dystrophy4Mar 1, 2023
Infantile-onset ascending hereditary spastic paralysis1May 11, 2022
Inflammatory bowel disease 11Mar 1, 2023
Inflammatory bowel disease 251Mar 1, 2023
Inflammatory bowel disease 281Apr 20, 2026
Inflammatory bowel disease 291Jun 27, 2025
Inflammatory bowel disease 302Jun 9, 2025
Insulin-dependent diabetes mellitus secretory diarrhea syndrome5Jun 9, 2025
Intellectual developmental disorder 591Jun 9, 2025
Intellectual developmental disorder 60 with seizures1Jun 3, 2025
Intellectual developmental disorder 616Apr 20, 2026
Intellectual developmental disorder 623Jun 9, 2025
Intellectual developmental disorder and retinitis pigmentosa; IDDRP3Apr 20, 2026
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature2Mar 1, 2023
Intellectual developmental disorder with autism and macrocephaly14Apr 20, 2026
Intellectual developmental disorder with autism and speech delay7Jul 30, 2025
Intellectual developmental disorder with autistic features and language delay, with or without seizures5Apr 20, 2026
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Mar 1, 2023
Intellectual developmental disorder with cardiac defects and dysmorphic facies1Jul 30, 2025
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities6Jun 9, 2025
Intellectual developmental disorder with dysmorphic facies and ptosis6Apr 20, 2026
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1Jun 27, 2025
Intellectual developmental disorder with hypertelorism and distinctive facies3Apr 20, 2026
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Mar 1, 2023
Intellectual developmental disorder with impaired language and dysmorphic facies1Jun 9, 2025
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism1Apr 20, 2026
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Jun 27, 2025
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism4Apr 20, 2026
Intellectual developmental disorder with ocular anomalies and distinctive facial features1Jun 27, 2025
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Jul 30, 2025
Intellectual developmental disorder with paroxysmal dyskinesia or seizures2May 11, 2022
Intellectual developmental disorder with poor growth and with or without seizures or ataxia2May 11, 2022
Intellectual developmental disorder with seizures and language delay5Jul 30, 2025
Intellectual developmental disorder with short stature and variable skeletal anomalies1Jul 30, 2025
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies7Jun 9, 2025
Intellectual developmental disorder, X-linked 1083Jul 30, 2025
Intellectual developmental disorder, X-linked 1112Jul 30, 2025
Intellectual developmental disorder, X-linked 1121Jul 30, 2025
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1Jul 28, 2023
Intellectual developmental disorder, X-linked, syndromic, Pilorge type1Jun 27, 2025
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2May 11, 2022
Intellectual developmental disorder, autosomal dominant 649Jul 30, 2025
Intellectual developmental disorder, autosomal dominant 6510Jun 27, 2025
Intellectual developmental disorder, autosomal dominant 661Jun 3, 2025
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities6Jul 30, 2025
Intellectual developmental disorder, autosomal dominant 728Apr 20, 2026
Intellectual developmental disorder, autosomal recessive 701Jul 30, 2025
Intellectual developmental disorder, autosomal recessive 741May 11, 2022
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly2Jun 27, 2025
Intellectual disability6Sep 17, 2025
Intellectual disability, FRA12A type2Jun 9, 2025
Intellectual disability, X-linked 14Apr 20, 2026
Intellectual disability, X-linked 1001Jun 27, 2025
Intellectual disability, X-linked 1012Jun 27, 2025
Intellectual disability, X-linked 1026Apr 20, 2026
Intellectual disability, X-linked 1047Apr 20, 2026
Intellectual disability, X-linked 1062Apr 20, 2026
Intellectual disability, X-linked 192Mar 1, 2023
Intellectual disability, X-linked 211Apr 20, 2026
Intellectual disability, X-linked 301Apr 20, 2026
Intellectual disability, X-linked 411May 11, 2022
Intellectual disability, X-linked 493Jun 9, 2025
Intellectual disability, X-linked 582Jul 30, 2025
Intellectual disability, X-linked 631Jun 3, 2025
Intellectual disability, X-linked 901Jun 9, 2025
Intellectual disability, X-linked 933Jun 9, 2025
Intellectual disability, X-linked 961Jul 30, 2025
Intellectual disability, X-linked 973Apr 20, 2026
Intellectual disability, X-linked 991Mar 1, 2023
Intellectual disability, X-linked syndromic, Turner type14Apr 20, 2026
Intellectual disability, X-linked, syndromic, Bain type1Jun 27, 2025
Intellectual disability, X-linked, syndromic, Houge type3Apr 20, 2026
Intellectual disability, autosomal dominant 14Apr 20, 2026
Intellectual disability, autosomal dominant 101Jun 9, 2025
Intellectual disability, autosomal dominant 112Apr 20, 2026
Intellectual disability, autosomal dominant 133Mar 1, 2023
Intellectual disability, autosomal dominant 145Apr 20, 2026
Intellectual disability, autosomal dominant 161May 2, 2023
Intellectual disability, autosomal dominant 224Apr 20, 2026
Intellectual disability, autosomal dominant 242Mar 1, 2023
Intellectual disability, autosomal dominant 291May 2, 2023
Intellectual disability, autosomal dominant 32Jun 9, 2025
Intellectual disability, autosomal dominant 301Apr 20, 2026
Intellectual disability, autosomal dominant 341May 11, 2022
Intellectual disability, autosomal dominant 381Mar 1, 2023
Intellectual disability, autosomal dominant 394Apr 20, 2026
Intellectual disability, autosomal dominant 421May 11, 2022
Intellectual disability, autosomal dominant 4315Jun 27, 2025
Intellectual disability, autosomal dominant 457Apr 20, 2026
Intellectual disability, autosomal dominant 464Jun 27, 2025
Intellectual disability, autosomal dominant 472Jul 30, 2025
Intellectual disability, autosomal dominant 481Mar 1, 2023
Intellectual disability, autosomal dominant 510Apr 20, 2026
Intellectual disability, autosomal dominant 507Apr 20, 2026
Intellectual disability, autosomal dominant 511Jun 27, 2025
Intellectual disability, autosomal dominant 528Jun 3, 2025
Intellectual disability, autosomal dominant 541Apr 20, 2026
Intellectual disability, autosomal dominant 564Apr 20, 2026
Intellectual disability, autosomal dominant 572Jul 30, 2025
Intellectual disability, autosomal dominant 582Jul 30, 2025
Intellectual disability, autosomal recessive 121May 11, 2022
Intellectual disability, autosomal recessive 131Apr 20, 2026
Intellectual disability, autosomal recessive 271Mar 1, 2023
Intellectual disability, autosomal recessive 422Jun 27, 2025
Intellectual disability, autosomal recessive 52Jun 27, 2025
Intellectual disability, autosomal recessive 531May 2, 2023
Intellectual disability, autosomal recessive 631May 2, 2023
Intellectual disability, autosomal recessive 653Apr 20, 2026
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency17Apr 20, 2026
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome3Apr 20, 2026
Intellectual disability-hypotonic facies syndrome, X-linked, 13Mar 1, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome16Apr 20, 2026
Intellectual disability-severe speech delay-mild dysmorphism syndrome2Jun 9, 2025
Interstitial lung disease 21Jun 27, 2025
Interstitial lung disease due to ABCA3 deficiency1Jun 3, 2025
Intestinal hypomagnesemia 11May 2, 2023
Iron overload, susceptibility to1Jun 9, 2025
Isolated microphthalmia 31Mar 1, 2023
Isovaleryl-CoA dehydrogenase deficiency1Mar 1, 2023
Jawad syndrome1May 11, 2022
Joubert syndrome 161Jul 30, 2025
Joubert syndrome 172Mar 1, 2023
Joubert syndrome 261Jun 27, 2025
Joubert syndrome 333Jun 27, 2025
Joubert syndrome 62May 11, 2022
Junctional epidermolysis bullosa gravis of Herlitz2Mar 1, 2023
Junctional epidermolysis bullosa, non-Herlitz type2May 11, 2022
KBG syndrome34Apr 20, 2026
Kabuki syndrome 16Mar 1, 2023
Kabuki syndrome 25Apr 20, 2026
Kartagener syndrome2Jun 9, 2025
Karyomegalic interstitial nephritis3Apr 20, 2026
Keppen-Lubinsky syndrome1Mar 1, 2023
Kleefstra syndrome 110Jun 9, 2025
Kleefstra syndrome 217Apr 20, 2026
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2Apr 20, 2026
Kniest dysplasia1May 11, 2022
Knobloch syndrome1May 11, 2022
Knobloch syndrome 12Mar 1, 2023
Koolen-de Vries syndrome4Apr 20, 2026
Kostmann syndrome1Apr 20, 2026
L-2-hydroxyglutaric aciduria1May 2, 2023
LEOPARD syndrome 11Mar 1, 2023
LMNA-related disorder1Dec 12, 2023
LZTR1-related schwannomatosis2Mar 1, 2023
Lamb-Shaffer syndrome2Mar 1, 2023
Landau-Kleffner syndrome5Apr 20, 2026
Larsen syndrome1Mar 1, 2023
Leber congenital amaurosis 131Apr 20, 2026
Leber congenital amaurosis 91May 11, 2022
Leber-like hereditary optic neuropathy, autosomal recessive 12Jun 9, 2025
Left ventricular noncompaction 11Jun 9, 2025
Left ventricular noncompaction 71Jun 27, 2025
Legius syndrome1Jul 30, 2025
Leigh syndrome1May 11, 2022
Lens luxation1May 11, 2022
Lenz-Majewski hyperostosis syndrome1Jul 30, 2025
Lesch-Nyhan syndrome1Mar 1, 2023
Lethal Kniest-like syndrome2Mar 1, 2023
Lethal arthrogryposis-anterior horn cell disease syndrome1Jun 6, 2023
Lethal osteosclerotic bone dysplasia3Jun 9, 2025
Leukemia, acute lymphoblastic, susceptibility to, 31Apr 20, 2026
Leukocyte adhesion deficiency 14Jun 27, 2025
Leukodystrophy2May 11, 2022
Leukodystrophy, hypomyelinating, 161Jul 30, 2025
Leukodystrophy, hypomyelinating, 19, transient infantile2Jul 30, 2025
Leukodystrophy, hypomyelinating, 241Mar 1, 2023
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism2Mar 1, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome5Apr 20, 2026
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome4Jun 9, 2025
Leydig cell agenesis3May 2, 2023
Li-Fraumeni syndrome 17Dec 12, 2023
Liang-Wang syndrome1May 11, 2022
Lichtenstein-Knorr syndrome1May 11, 2022
Lissencephaly 101Apr 20, 2026
Lissencephaly 82Apr 20, 2026
Lissencephaly 9 with complex brainstem malformation7Apr 20, 2026
Lissencephaly due to TUBA1A mutation1Mar 1, 2023
Loeys-Dietz syndrome 11May 11, 2022
Loeys-Dietz syndrome 21Mar 1, 2023
Loeys-Dietz syndrome 42Jul 30, 2025
Long QT syndrome 22May 11, 2022
Long QT syndrome 31Mar 1, 2023
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1May 11, 2022
Loricrin keratoderma1May 2, 2023
Lowe syndrome3Mar 1, 2023
Lumbar kyphoscoliosis1May 11, 2022
Luo-Schoch-Yamamoto syndrome2Jul 30, 2025
Luscan-Lumish syndrome2Mar 1, 2023
Lymphoproliferative syndrome 13Apr 20, 2026
Lynch syndrome 19Dec 12, 2023
Lynch syndrome 42Dec 12, 2023
Lynch syndrome 512Dec 12, 2023
Lynch syndrome 81Mar 1, 2023
MEGF8-related Carpenter syndrome1Jun 27, 2025
MELAS syndrome1May 11, 2022
MHC class II deficiency1May 11, 2022
MPI-congenital disorder of glycosylation3May 2, 2023
MYBPC3-related disorder1Dec 12, 2023
MYH7-related disorder2Dec 12, 2023
MYL2-related disorder1Dec 12, 2023
Macrocephaly1May 11, 2022
Macrocephaly, acquired, with impaired intellectual development3Apr 20, 2026
Macrocephaly, dysmorphic facies, and psychomotor retardation6Jun 27, 2025
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin2Jul 30, 2025
Macrocephaly-autism syndrome3Mar 1, 2023
Macrocephaly-developmental delay syndrome2Jun 27, 2025
Macrothrombocytopenia, isolated, 2, autosomal dominant1Jul 30, 2025
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1May 11, 2022
Malan overgrowth syndrome1May 2, 2023
Malignant hyperthermia, susceptibility to, 15Dec 12, 2023
Malignant tumor of breast1Jun 12, 2023
Mandibular hypoplasia-deafness-progeroid syndrome2May 2, 2023
Mandibulofacial dysostosis-microcephaly syndrome9Apr 20, 2026
Maple syrup urine disease2Mar 1, 2023
Marden-Walker syndrome1May 2, 2023
Marfan syndrome6Mar 1, 2023
Marshall-Smith syndrome1Mar 1, 2023
Martsolf syndrome 11May 11, 2022
Maturity-onset diabetes of the young type 21Mar 1, 2023
Meckel syndrome, type 62Mar 1, 2023
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations2Jun 27, 2025
Megalencephalic leukoencephalopathy with subcortical cysts 12Mar 1, 2023
Megalencephalic leukoencephalopathy with subcortical cysts 31Apr 20, 2026
Megalencephaly1May 11, 2022
Megaloblastic anemia, folate-responsive1Jul 30, 2025
Meier-Gorlin syndrome 12Jun 27, 2025
Meier-Gorlin syndrome 22Jun 27, 2025
Meier-Gorlin syndrome 41May 2, 2023
Meier-Gorlin syndrome 61Jun 27, 2025
Melanoma1May 11, 2022
Melanoma and neural system tumor syndrome1Mar 1, 2023
Melanoma, cutaneous malignant, susceptibility to, 81Mar 1, 2023
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency5Apr 20, 2026
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1Mar 1, 2023
Menke-Hennekam syndrome 11May 2, 2023
Menke-Hennekam syndrome 21May 2, 2023
Menstrual cycle-dependent periodic fever1May 2, 2023
Merosin deficient congenital muscular dystrophy2Jun 12, 2023
Metachromatic leukodystrophy2Mar 1, 2023
Metaphyseal chondrodysplasia, Schmid type1Jun 9, 2025
Methylmalonate semialdehyde dehydrogenase deficiency1May 2, 2023
Methylmalonic acidemia with homocystinuria, type cblX4Jun 27, 2025
Methylmalonic aciduria and homocystinuria type cblD1Mar 1, 2023
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency6Jun 27, 2025
Methylmalonic aciduria, cblA type1May 11, 2022
Microcephalic primordial dwarfism due to RTTN deficiency3Jul 30, 2025
Microcephalic primordial dwarfism, Alazami type2Jun 27, 2025
Microcephaly3May 11, 2022
Microcephaly 1, primary, autosomal recessive3Apr 20, 2026
Microcephaly 18, primary, autosomal dominant7Jul 30, 2025
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2Apr 20, 2026
Microcephaly 21, primary, autosomal recessive1Mar 1, 2023
Microcephaly 3, primary, autosomal recessive1May 11, 2022
Microcephaly 5, primary, autosomal recessive7Apr 20, 2026
Microcephaly 6, primary, autosomal recessive2Mar 1, 2023
Microcephaly and chorioretinopathy 15Jul 30, 2025
Microcephaly and chorioretinopathy 31Apr 20, 2026
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability3Apr 20, 2026
Microcephaly, normal intelligence and immunodeficiency1Mar 1, 2023
Microcephaly, short stature, and impaired glucose metabolism 21Jul 30, 2025
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome1Jun 27, 2025
Microcornea-myopic chorioretinal atrophy3May 2, 2023
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome4May 2, 2023
Microphthalmia with brain and digit anomalies1May 2, 2023
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1Jun 3, 2025
Migraine, with or without aura, susceptibility to, 131Apr 20, 2026
Mild global developmental delay1May 11, 2022
Mild malformation of cortical development1May 11, 2022
Miller syndrome2Jun 9, 2025
Mitochondrial DNA depletion syndrome 11Jul 30, 2025
Mitochondrial DNA depletion syndrome 20 (mngie type)3Jun 27, 2025
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1May 2, 2023
Mitochondrial DNA depletion syndrome 4b3Apr 26, 2023
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2Jul 30, 2025
Mitochondrial DNA depletion syndrome, myopathic form1Mar 1, 2023
Mitochondrial complex I deficiency, nuclear type 162Mar 1, 2023
Mitochondrial complex I deficiency, nuclear type 181Jun 27, 2025
Mitochondrial complex I deficiency, nuclear type 192Jun 9, 2025
Mitochondrial complex I deficiency, nuclear type 322Jun 27, 2025
Mitochondrial complex I deficiency, nuclear type 44Jun 27, 2025
Mitochondrial complex I deficiency, nuclear type 52Jun 27, 2025
Mitochondrial complex I deficiency, nuclear type 81Mar 1, 2023
Mitochondrial complex III deficiency nuclear type 12May 11, 2022
Mitochondrial complex III deficiency nuclear type 21Apr 20, 2026
Mitochondrial complex III deficiency nuclear type 52Apr 20, 2026
Mitochondrial complex IV deficiency, nuclear type 11Mar 1, 2023
Mitochondrial complex IV deficiency, nuclear type 41Apr 20, 2026
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11Mar 1, 2023
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1May 2, 2023
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2Jun 27, 2025
Mitochondrial myopathy-lactic acidosis-deafness syndrome2Apr 20, 2026
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency7Jun 9, 2025
Mitochondrial trifunctional protein deficiency 21Jun 6, 2023
Mitral regurgitation1May 11, 2022
Miyoshi muscular dystrophy 11May 11, 2022
Miyoshi muscular dystrophy 31Mar 15, 2024
Monocytopenia with susceptibility to infections1Mar 1, 2023
Mosaic variegated aneuploidy syndrome 11Mar 1, 2023
Mowat-Wilson syndrome3Apr 20, 2026
Moyamoya disease 22Jul 30, 2025
Mucocutaneous ulceration, chronic1Jul 30, 2025
Mucolipidosis type II1Mar 1, 2023
Mucolipidosis type IV1Jun 27, 2025
Mucopolysaccharidosis type 71Jun 27, 2025
Mucopolysaccharidosis, MPS-II4May 2, 2023
Mucopolysaccharidosis, MPS-III-B2Mar 1, 2023
Muenke syndrome1Mar 1, 2023
Muir-Torré syndrome3Mar 1, 2023
Mullegama-Klein-Martinez syndrome1Mar 1, 2023
Multicentric osteolysis, nodulosis, and arthropathy1Apr 20, 2026
Multiple acyl-CoA dehydrogenase deficiency7Apr 20, 2026
Multiple congenital anomalies-hypotonia-seizures syndrome 15Apr 20, 2026
Multiple congenital anomalies-hypotonia-seizures syndrome 31Mar 1, 2023
Multiple endocrine neoplasia type 2A1Mar 1, 2023
Multiple endocrine neoplasia type 41Apr 20, 2026
Multiple endocrine neoplasia, type 12Mar 1, 2023
Multiple epiphyseal dysplasia type 12Mar 1, 2023
Multiple mitochondrial dysfunctions syndrome 61Apr 20, 2026
Multiple mitochondrial dysfunctions syndrome 71Jun 27, 2025
Multiple sulfatase deficiency1Jul 30, 2025
Multiple synostoses syndrome 21Mar 1, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 234Mar 1, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A142Mar 1, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31May 11, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Jun 3, 2025
Myasthenic syndrome, congenital, 25, presynaptic1Mar 1, 2023
Myelodysplasia1May 11, 2022
Myhre syndrome2Mar 1, 2023
Myoclonic dystonia 111Jul 30, 2025
Myoglobinuria, acute recurrent, autosomal recessive2Apr 20, 2026
Myopathy due to calsequestrin and SERCA1 protein overload1Apr 20, 2026
Myopathy, proximal, and ophthalmoplegia6Jun 27, 2025
Myopia1May 11, 2022
Myopia, high, with cataract and vitreoretinal degeneration2Mar 1, 2023
NAD(P)HX dehydratase deficiency1May 11, 2022
NDE1-related microhydranencephaly1Mar 1, 2023
Nemaline myopathy 101Mar 1, 2023
Nemaline myopathy 22Mar 1, 2023
Neonatal respiratory distress1May 11, 2022
Neoplasm of uterus1May 11, 2022
Nephronophthisis 161Jun 3, 2025
Nephronophthisis 191May 11, 2022
Nephronophthisis 201Jun 27, 2025
Nephrotic syndrome 151May 11, 2022
Nephrotic syndrome, type 22Jun 27, 2025
Nephrotic syndrome, type 232Jun 27, 2025
Nephrotic syndrome, type 35May 2, 2023
Nephrotic syndrome, type 42May 11, 2022
Netherton syndrome4Apr 20, 2026
Neuroblastoma, susceptibility to, 32Jun 3, 2025
Neurodegeneration with brain iron accumulation 41Jun 6, 2023
Neurodegeneration with brain iron accumulation 53Jul 30, 2025
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2May 11, 2022
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities1May 2, 2023
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction1Jun 27, 2025
Neurodevelopmental delay5May 11, 2022
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity3Jul 30, 2025
Neurodevelopmental disorder with absent language and variable seizures1Jul 30, 2025
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1May 11, 2022
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies6Jun 27, 2025
Neurodevelopmental disorder with central hypotonia and dysmorphic facies6Apr 20, 2026
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1May 2, 2023
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities2May 2, 2023
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies8Apr 20, 2026
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies4Apr 20, 2026
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities1Jun 27, 2025
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum2Jul 30, 2025
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia2May 11, 2022
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities2Apr 20, 2026
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum1Mar 1, 2023
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1May 11, 2022
Neurodevelopmental disorder with eye movement abnormalities and ataxia2Jun 9, 2025
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities2Jun 9, 2025
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities8Apr 20, 2026
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1Mar 1, 2023
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures2Mar 1, 2023
Neurodevelopmental disorder with hypotonia, seizures, and absent language5Apr 20, 2026
Neurodevelopmental disorder with infantile epileptic spasms1Jun 27, 2025
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures1Jun 3, 2025
Neurodevelopmental disorder with language impairment and behavioral abnormalities1May 11, 2022
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1Jun 27, 2025
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures1Jun 9, 2025
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Mar 1, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2May 11, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures8Apr 20, 2026
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart6Apr 20, 2026
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities1Jun 27, 2025
Neurodevelopmental disorder with or without early-onset generalized epilepsy16Apr 20, 2026
Neurodevelopmental disorder with or without seizures and gait abnormalities3Jun 27, 2025
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA7Apr 20, 2026
Neurodevelopmental disorder with poor growth and behavioral abnormalities2Apr 20, 2026
Neurodevelopmental disorder with poor language and loss of hand skills1Mar 1, 2023
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1May 11, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures10Apr 20, 2026
Neurodevelopmental disorder with seizures and gingival overgrowth1May 11, 2022
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements2Jun 9, 2025
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities1Apr 20, 2026
Neurodevelopmental disorder with severe motor impairment and absent language2May 2, 2023
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Mar 1, 2023
Neurodevelopmental disorder with speech impairment and with or without seizures11Apr 20, 2026
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Mar 1, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities4Apr 20, 2026
Neurofibromatosis, type 115May 2, 2023
Neurofibromatosis-Noonan syndrome1Mar 1, 2023
Neuromuscular disease and ocular or auditory anomalies with or without seizures3Apr 20, 2026
Neuronal ceroid lipofuscinosis 12Jul 30, 2025
Neuronal ceroid lipofuscinosis 33Mar 1, 2023
Neuronopathy, distal hereditary motor, autosomal dominant 81May 11, 2022
Neuronopathy, distal hereditary motor, autosomal recessive 71Jul 30, 2025
Neuronopathy, distal hereditary motor, autosomal recessive 82Jul 30, 2025
Neuronopathy, distal hereditary motor, type 2C1Jun 27, 2025
Neuroocular syndrome 13Jul 30, 2025
Neurooculocardiogenitourinary syndrome4Jul 30, 2025
Neuropathic spinal arthropathy1May 11, 2022
Neutral 1 amino acid transport defect1Jul 30, 2025
Nicolaides-Baraitser syndrome1Mar 1, 2023
Niemann-Pick disease, type A1Mar 1, 2023
Niemann-Pick disease, type C12May 2, 2023
Niemann-Pick disease, type C21May 11, 2022
Nijmegen breakage syndrome-like disorder7Apr 20, 2026
Nizon-Isidor syndrome7Apr 20, 2026
Noonan syndrome 15Mar 1, 2023
Noonan syndrome 105May 2, 2023
Noonan syndrome 131Jun 27, 2025
Noonan syndrome 23May 11, 2022
Noonan syndrome 42Mar 1, 2023
Noonan syndrome 51Mar 1, 2023
Noonan syndrome 61May 11, 2022
Noonan syndrome 71Mar 1, 2023
Noonan syndrome 91Jul 30, 2025
Noonan syndrome-like disorder with loose anagen hair 13Apr 20, 2026
Noonan syndrome-like disorder with loose anagen hair 21Jul 30, 2025
Nystagmus1May 11, 2022
O'Donnell-Luria-Rodan syndrome4Jun 27, 2025
Obesity, hyperphagia, and developmental delay1Mar 1, 2023
Ocular albinism1May 11, 2022
Oculocerebrodental syndrome2Jun 27, 2025
Oculofaciocardiodental syndrome3Apr 20, 2026
Oculogastrointestinal-neurodevelopmental syndrome4Apr 20, 2026
Ogden syndrome1Mar 1, 2023
Okur-Chung neurodevelopmental syndrome2May 2, 2023
Oligodontia-cancer predisposition syndrome2May 2, 2023
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures3Mar 1, 2023
Optic atrophy 51May 11, 2022
Ornithine carbamoyltransferase deficiency1Dec 12, 2023
Orofacial cleft1May 11, 2022
Osteofibrous dysplasia1Mar 1, 2023
Osteogenesis imperfecta type 101Mar 1, 2023
Osteogenesis imperfecta type 113Mar 1, 2023
Osteogenesis imperfecta type 151May 11, 2022
Osteogenesis imperfecta type 51May 11, 2022
Osteogenesis imperfecta type 63Jul 30, 2025
Osteogenesis imperfecta type 75Jun 9, 2025
Osteogenesis imperfecta type 83Mar 1, 2023
Osteogenesis imperfecta type I4Mar 1, 2023
Osteogenesis imperfecta type III2May 11, 2022
Osteogenesis imperfecta with normal sclerae, dominant form6May 11, 2022
Osteogenesis imperfecta, perinatal lethal5Mar 1, 2023
Osteogenesis imperfecta, type 181May 11, 2022
Osteogenesis imperfecta, type 211May 11, 2022
Osteopathia striata with cranial sclerosis2Apr 20, 2026
Osteopenia1May 11, 2022
Osteoporosis with pseudoglioma2May 11, 2022
Osteoporosis, childhood- or juvenile-onset, with developmental delay1Mar 1, 2023
Osteosclerotic metaphyseal dysplasia2Apr 20, 2026
Otitis media, susceptibility to1Apr 20, 2026
Ovarian dysgenesis 101Mar 1, 2023
Ovarian neoplasm2Jun 12, 2023
PEHO-like syndrome1May 11, 2022
PGM1-congenital disorder of glycosylation1Mar 1, 2023
PHARC syndrome1May 11, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome4Jun 27, 2025
PMM2-congenital disorder of glycosylation6Jun 27, 2025
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Mar 1, 2023
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome2Jun 27, 2025
Pallister-Hall syndrome1May 11, 2022
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1Jun 27, 2025
Pancreatic cancer, susceptibility to, 21Mar 1, 2023
Pancreatic cancer, susceptibility to, 31Mar 1, 2023
Pancytopenia due to IKZF1 mutations2Mar 1, 2023
Papillary renal cell carcinoma type 11Mar 1, 2023
Paramyotonia congenita of Von Eulenburg2May 11, 2022
Parenti-mignot neurodevelopmental syndrome9Apr 20, 2026
Parietal foramina1May 11, 2022
Parkinsonism with polyneuropathy1Jul 30, 2025
Patterned macular dystrophy 21Jun 9, 2025
Peeling skin syndrome 41Jun 9, 2025
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome2Jun 9, 2025
Pelizaeus-Merzbacher disease2Mar 1, 2023
Peripheral neuropathy1May 11, 2022
Periventricular heterotopia with microcephaly, autosomal recessive1Jun 3, 2025
Periventricular nodular heterotopia 63Apr 20, 2026
Periventricular nodular heterotopia 91Jun 6, 2023
Peroxisome biogenesis disorder 14B1Jun 27, 2025
Peroxisome biogenesis disorder 7A (Zellweger)1May 2, 2023
Perrault syndrome 61Jun 9, 2025
Persistent Mullerian duct syndrome1Jun 3, 2025
Peters plus syndrome2Mar 1, 2023
Peutz-Jeghers syndrome4May 2, 2023
Phelan-McDermid syndrome4Mar 1, 2023
Phenylketonuria4Jan 30, 2024
Pheochromocytoma4May 2, 2023
Pheochromocytoma/paraganglioma syndrome 21Mar 1, 2023
Pheochromocytoma/paraganglioma syndrome 42May 11, 2022
Pigmentary pallidal degeneration2Oct 8, 2024
Pigmented nodular adrenocortical disease, primary, 21Jun 27, 2025
Pigmented paravenous retinochoroidal atrophy1Mar 1, 2023
Pilarowski-Bjornsson syndrome7Apr 20, 2026
Pili torti-developmental delay-neurological abnormalities syndrome1Jun 27, 2025
Pitt-Hopkins syndrome1May 11, 2022
Platelet-activating factor acetylhydrolase deficiency1May 2, 2023
Platelet-type bleeding disorder 201Apr 20, 2026
Pleural effusion1May 11, 2022
Poirier-Bienvenu neurodevelopmental syndrome4Jun 9, 2025
Polycystic kidney disease 23Jun 27, 2025
Polycystic kidney disease 410Jun 27, 2025
Polycystic kidney disease, adult type13Apr 20, 2026
Polyglandular autoimmune syndrome, type 13Jun 3, 2025
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal1Mar 1, 2023
Pontocerebellar hypoplasia type 1B2Mar 1, 2023
Pontocerebellar hypoplasia type 31May 2, 2023
Pontocerebellar hypoplasia type 63Apr 20, 2026
Pontocerebellar hypoplasia type 72Jul 30, 2025
Pontocerebellar hypoplasia, type 1D1Jun 9, 2025
Porokeratosis 7, multiple types1Jun 27, 2025
Potassium-aggravated myotonia2May 11, 2022
Precocious puberty, central, 21Mar 1, 2023
Premature ovarian failure 151Mar 1, 2023
Primary ciliary dyskinesia 141Mar 1, 2023
Primary ciliary dyskinesia 153Jun 9, 2025
Primary ciliary dyskinesia 173Jun 27, 2025
Primary ciliary dyskinesia 222Mar 1, 2023
Primary ciliary dyskinesia 241May 11, 2022
Primary ciliary dyskinesia 252Mar 1, 2023
Primary ciliary dyskinesia 294Apr 20, 2026
Primary ciliary dyskinesia 32Mar 1, 2023
Primary ciliary dyskinesia 57Apr 20, 2026
Primary ciliary dyskinesia 72Mar 1, 2023
Primary coenzyme Q10 deficiency 83Jun 9, 2025
Primary dilated cardiomyopathy1Jun 12, 2023
Primary hyperoxaluria type 31Apr 20, 2026
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1Jun 27, 2025
Primary intraosseous venous malformation1May 11, 2022
Primrose syndrome2Jul 30, 2025
Progressive congenital scoliosis1May 11, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12Mar 1, 2023
Progressive familial intrahepatic cholestasis type 33Mar 1, 2023
Progressive gait ataxia1May 11, 2022
Progressive microcephaly1May 11, 2022
Progressive myoclonic epilepsy type 71Jun 27, 2025
Progressive myositis ossificans1May 11, 2022
Progressive peripheral neuropathy1May 11, 2022
Progressive sclerosing poliodystrophy1May 11, 2022
Prolidase deficiency3Jun 27, 2025
Propionic acidemia3Jun 27, 2025
Proportionate short stature1May 11, 2022
Prostate cancer2Mar 1, 2023
Proteasome-associated autoinflammatory syndrome 13Jul 30, 2025
Proteasome-associated autoinflammatory syndrome 31Mar 1, 2023
Proximal 16p11.2 microdeletion syndrome1Jun 12, 2023
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1May 11, 2022
Pseudohypoparathyroidism type 1C1Mar 1, 2023
Pseudohypoparathyroidism type I A1Mar 1, 2023
Ptosis, hereditary congenital, 12Jul 30, 2025
Pulmonary hypertension, primary, 51Mar 1, 2023
Pulmonary valve stenosis1May 11, 2022
Purine-nucleoside phosphorylase deficiency1Apr 20, 2026
Pyknodysostosis3Apr 20, 2026
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome3Jul 30, 2025
Pyridoxal phosphate-responsive seizures1Apr 20, 2026
Pyruvate carboxylase deficiency1Mar 1, 2023
Pyruvate dehydrogenase E1-alpha deficiency2Jun 27, 2025
Pyruvate dehydrogenase E3-binding protein deficiency1Jun 27, 2025
Pyruvate kinase deficiency of red cells2Mar 1, 2023
RET-related disorder2Dec 12, 2023
RIDDLE syndrome1Jul 30, 2025
Radio-Tartaglia syndrome14Apr 20, 2026
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11Jun 27, 2025
Rafiq syndrome1Mar 1, 2023
Rahman syndrome3Jun 27, 2025
Rauch-Steindl syndrome7Apr 20, 2026
Recessive dystrophic epidermolysis bullosa16Jan 13, 2025
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Jul 30, 2025
Renal carnitine transport defect2Apr 20, 2026
Renal coloboma syndrome1May 11, 2022
Renal tubular acidosis with progressive nerve deafness3Jun 3, 2025
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1Apr 20, 2026
Renal-hepatic-pancreatic dysplasia 21May 11, 2022
Renpenning syndrome3Apr 20, 2026
Respiratory papillomatosis, juvenile recurrent, congenital1May 2, 2023
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome4Jun 3, 2025
Retinitis pigmentosa 253Jun 9, 2025
Retinitis pigmentosa 452Jun 9, 2025
Retinitis pigmentosa 491Apr 20, 2026
Retinitis pigmentosa 621Mar 1, 2023
Retinoblastoma3Jun 12, 2023
Rett syndrome4Mar 1, 2023
Rhabdomyolysis, susceptibility to, 13Apr 20, 2026
Rhizomelic chondrodysplasia punctata type 21May 2, 2023
Ritscher-Schinzel syndrome 12Mar 1, 2023
Ritscher-Schinzel syndrome 22Jun 9, 2025
Ritscher-Schinzel syndrome 44Apr 20, 2026
Roifman syndrome2Mar 1, 2023
Rothmund-Thomson syndrome type 22Mar 1, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations2Mar 1, 2023
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Mar 1, 2023
SCN5A-related disorder1Dec 12, 2023
SIN3A-related intellectual disability syndrome due to a point mutation7Jul 30, 2025
SLC35A2-congenital disorder of glycosylation4Jul 30, 2025
STAT3-related early-onset multisystem autoimmune disease1May 2, 2023
Sandhoff disease4Jun 27, 2025
Schaaf-Yang syndrome6Apr 20, 2026
Schuurs-Hoeijmakers syndrome3Jun 27, 2025
Sclerosteosis 11Mar 1, 2023
Scoliosis4May 11, 2022
Seckel syndrome 21May 11, 2022
See cases1254Oct 21, 2025
Seizure5May 11, 2022
Seizures, benign familial neonatal, 22Jun 27, 2025
Seizures, early-onset, with neurodegeneration and brain calcifications6Jun 27, 2025
Sensorineural hearing loss disorder2May 11, 2022
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Mar 1, 2023
Sessile serrated polyposis cancer syndrome5Jul 30, 2025
Severe combined immunodeficiency due to CARMIL2 deficiency1Jun 9, 2025
Severe combined immunodeficiency due to DNA-PKcs deficiency2Apr 20, 2026
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1May 2, 2023
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Mar 1, 2023
Severe failure to thrive1May 11, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome8Jun 3, 2025
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome4Jul 30, 2025
Severe intellectual disability1May 11, 2022
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2Jun 27, 2025
Severe intellectual disability-progressive spastic diplegia syndrome1Mar 1, 2023
Severe myoclonic epilepsy in infancy5Mar 1, 2023
Severe neonatal-onset encephalopathy with microcephaly1May 11, 2022
Severe progressive deforming recessive osteogenesis imperfecta (type III)1May 11, 2022
Shashi-Pena syndrome4Jun 3, 2025
Short neck1May 11, 2022
Short stature4May 11, 2022
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans4Mar 1, 2023
Short stature due to growth hormone secretagogue receptor deficiency2Mar 1, 2023
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11Mar 1, 2023
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1May 11, 2022
Short stature-optic atrophy-Pelger-Huët anomaly syndrome1May 11, 2022
Short stature-pituitary and cerebellar defects-small sella turcica syndrome2Jun 27, 2025
Short-rib thoracic dysplasia 16 with or without polydactyly2May 11, 2022
Shprintzen-Goldberg syndrome3Jul 30, 2025
Shukla-Vernon syndrome2Apr 20, 2026
Shwachman-Diamond syndrome 12Mar 1, 2023
Sialuria1May 11, 2022
Sick sinus syndrome 3, susceptibility to1May 11, 2022
Sideroblastic anemia 21Apr 20, 2026
Sifrim-Hitz-Weiss syndrome4Apr 20, 2026
Silver-Russell syndrome 51Jun 27, 2025
Simpson-Golabi-Behmel syndrome type 21Mar 1, 2023
Sjögren-Larsson syndrome1Jun 3, 2025
Skeletal dysplasia1May 11, 2022
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome1May 11, 2022
Skin creases, congenital symmetric circumferential, 21Jun 27, 2025
Skin vesicle1May 11, 2022
Skraban-Deardorff syndrome4Jul 30, 2025
Smith-Lemli-Opitz syndrome3Jun 9, 2025
Smith-Magenis syndrome3Jul 30, 2025
Sneddon syndrome1May 2, 2023
Snijders Blok-Campeau syndrome12Apr 20, 2026
Snijders blok-fisher syndrome3Apr 20, 2026
Sotos syndrome15Apr 20, 2026
Spastic paraplegia 80, autosomal dominant3Jul 30, 2025
Spastic paraplegia 81, autosomal recessive1May 11, 2022
Spastic paraplegia, intellectual disability, nystagmus, and obesity1May 11, 2022
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1Mar 1, 2023
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1May 11, 2022
Spinocerebellar ataxia 441May 11, 2022
Spinocerebellar ataxia type 134Apr 20, 2026
Spinocerebellar ataxia type 141Apr 20, 2026
Spinocerebellar ataxia type 19/221May 11, 2022
Spinocerebellar ataxia type 261Jun 9, 2025
Spinocerebellar ataxia type 291May 11, 2022
Spinocerebellar ataxia type 352Jul 30, 2025
Spinocerebellar ataxia type 411Jul 30, 2025
Spinocerebellar ataxia type 421May 2, 2023
Spinocerebellar ataxia type 52May 11, 2022
Spinocerebellar ataxia, autosomal recessive 291May 2, 2023
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21May 11, 2022
Splenomegaly2May 11, 2022
Sponastrime dysplasia1Apr 20, 2026
Spondylocostal dysostosis 4, autosomal recessive1Apr 20, 2026
Spondylocostal dysostosis 53Mar 1, 2023
Spondyloenchondrodysplasia with immune dysregulation1Mar 1, 2023
Spondyloepimetaphyseal dysplasia with multiple dislocations1May 11, 2022
Spondyloepimetaphyseal dysplasia, Genevieve type1Jun 27, 2025
Spondyloepimetaphyseal dysplasia, PAPSS2 type1Apr 20, 2026
Spondyloepimetaphyseal dysplasia, Strudwick type1May 11, 2022
Spondyloepiphyseal dysplasia with congenital joint dislocations2Mar 1, 2023
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome1Mar 1, 2023
Stankiewicz-Isidor syndrome4Apr 20, 2026
Steel syndrome1May 11, 2022
Stickler syndrome type 22Mar 1, 2023
Subcutaneous panniculitis-like T-cell lymphoma1Jun 27, 2025
Sucrase-isomaltase deficiency1Jul 30, 2025
Suleiman-El-Hattab syndrome2May 11, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1May 2, 2023
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B11Apr 20, 2026
Syndromic X-linked intellectual disability 141Jul 30, 2025
Syndromic X-linked intellectual disability 941Jun 27, 2025
Syndromic X-linked intellectual disability Claes-Jensen type2Apr 20, 2026
Syndromic X-linked intellectual disability Hedera type1Mar 1, 2023
Syndromic X-linked intellectual disability Lubs type1May 11, 2022
Syndromic X-linked intellectual disability Raymond type2Jul 30, 2025
Syndromic X-linked intellectual disability Shashi type2Jul 30, 2025
Syndromic X-linked intellectual disability Siderius type7Jun 27, 2025
Systemic lupus erythematosus, susceptibility to, 101Mar 1, 2023
Systemic lupus erythematosus, susceptibility to, 111Mar 1, 2023
T-B+ severe combined immunodeficiency due to JAK3 deficiency2Jan 30, 2024
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1Mar 1, 2023
TELO2-related intellectual disability-neurodevelopmental disorder1Apr 20, 2026
TNF receptor-associated periodic fever syndrome (TRAPS)2Mar 1, 2023
TTN-related disorder7Dec 12, 2023
Tall stature-intellectual disability-renal anomalies syndrome1Jun 9, 2025
Tapered finger1May 11, 2022
Tatton-Brown-Rahman overgrowth syndrome1Mar 1, 2023
Tay-Sachs disease2May 2, 2023
Telangiectasia, hereditary hemorrhagic, type 12Jun 9, 2025
Telangiectasia, hereditary hemorrhagic, type 23Apr 20, 2026
Tessadori-Van Haaften neurodevelopmental syndrome 31May 2, 2023
Tessadori-Van Haaften neurodevelopmental syndrome 41Jun 27, 2025
Testosterone 17-beta-dehydrogenase deficiency2Apr 20, 2026
Thoracic kyphoscoliosis1May 11, 2022
Thoracic scoliosis1May 11, 2022
Thoracolumbar kyphoscoliosis1May 11, 2022
Thrombocytopenia1May 11, 2022
Thrombocytopenia 12Mar 1, 2023
Thrombocytopenia 22Apr 20, 2026
Thrombocytopenia 41Apr 20, 2026
Thrombophilia due to thrombin defect1Mar 1, 2023
Thyroid cancer, nonmedullary, 51May 11, 2022
Thyroid dyshormonogenesis 61Jun 9, 2025
Tibial muscular dystrophy1May 11, 2022
Timothy syndrome1Mar 1, 2023
Tolchin-Le Caignec syndrome6Apr 20, 2026
Townes-Brocks syndrome 11May 11, 2022
Townes-Brocks syndrome 21Apr 20, 2026
Treacher Collins syndrome 14Jul 30, 2025
Treacher Collins syndrome 41Mar 1, 2023
Tuberous sclerosis 22Mar 1, 2023
Tumor predisposition syndrome 31May 2, 2023
Tumoral calcinosis, hyperphosphatemic, familial, 11Jun 27, 2025
Turnpenny-fry syndrome1Jun 27, 2025
Type II complement component 8 deficiency1Jun 9, 2025
Tyrosinemia type I3Apr 20, 2026
UDPglucose-4-epimerase deficiency1Mar 1, 2023
Ullrich congenital muscular dystrophy 1A3Mar 1, 2023
Urocanate hydratase deficiency1Jul 30, 2025
Usher syndrome type 2A4Mar 1, 2023
Usher syndrome type 3A1May 11, 2022
VPS13A-related neurodegenerative disease4Jul 30, 2025
Variegate porphyria2Apr 20, 2026
Velocardiofacial syndrome2Jul 28, 2023
Vertebral anomalies and variable endocrine and T-cell dysfunction1May 2, 2023
Vertebral fusion1May 11, 2022
Vertebral hypersegmentation and orofacial anomalies1Jun 27, 2025
Vertebral, cardiac, renal, and limb defects syndrome 11May 11, 2022
Vertebral, cardiac, tracheoesophageal, renal, and limb defects5Apr 20, 2026
Ververi-Brady syndrome 11Apr 20, 2026
Very long chain acyl-CoA dehydrogenase deficiency3Apr 20, 2026
Vici syndrome3Jun 9, 2025
Visceral myopathy 11May 11, 2022
Visual hallucination1May 11, 2022
Vitamin D hydroxylation-deficient rickets, type 1B1Jun 9, 2025
Von Hippel-Lindau syndrome3Dec 12, 2023
WHIM syndrome 11May 2, 2023
WT1-related Wilms tumor2Dec 12, 2023
Warburg micro syndrome 22Mar 1, 2023
Warsaw breakage syndrome2Jun 9, 2025
Weaver syndrome1Apr 20, 2026
Weiss-Kruszka syndrome11Apr 20, 2026
White-Kernohan syndrome3Jun 9, 2025
Wieacker-Wolff syndrome1May 11, 2022
Wieacker-Wolff syndrome, female-restricted1Mar 1, 2023
Wiedemann-Steiner syndrome16Apr 20, 2026
Williams syndrome1Jul 28, 2023
Wilson disease3Jun 3, 2025
Wilson-Turner syndrome2Jun 27, 2025
Wiskott-Aldrich syndrome2Mar 1, 2023
Wiskott-Aldrich syndrome 21Jul 30, 2025
Wolcott-Rallison dysplasia1Jun 9, 2025
Wolfram syndrome 13Feb 22, 2024
Wolfram-like syndrome2Mar 1, 2023
X-linked Alport syndrome7Jun 9, 2025
X-linked Opitz G/BBB syndrome1May 2, 2023
X-linked agammaglobulinemia5Mar 1, 2023
X-linked central congenital hypothyroidism with late-onset testicular enlargement1Jun 27, 2025
X-linked chondrodysplasia punctata 12Jun 3, 2025
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1Mar 1, 2023
X-linked dystonia-parkinsonism1May 2, 2023
X-linked ichthyosis with steryl-sulfatase deficiency1May 11, 2022
X-linked intellectual disability Cabezas type1Jun 9, 2025
X-linked intellectual disability, Cantagrel type4Jun 27, 2025
X-linked intellectual disability-cerebellar hypoplasia syndrome3Apr 20, 2026
X-linked intellectual disability-psychosis-macroorchidism syndrome2May 11, 2022
X-linked intellectual disability-short stature-overweight syndrome3Jul 30, 2025
X-linked lymphoproliferative disease due to XIAP deficiency6Jul 30, 2025
X-linked severe combined immunodeficiency1May 11, 2022
XK-related neurodegenerative disease1Jul 30, 2025
Xeroderma pigmentosum group A1May 2, 2023
Xeroderma pigmentosum group B1Mar 1, 2023
Xeroderma pigmentosum variant type1Mar 1, 2023
Xeroderma pigmentosum, group C4Jul 30, 2025
Xeroderma pigmentosum, group D2Mar 1, 2023
Xeroderma pigmentosum, group E1May 2, 2023
Yao syndrome1Mar 1, 2023
ZTTK syndrome8Apr 20, 2026
Zaki syndrome1May 2, 2023
Zimmermann-Laband syndrome 31Mar 1, 2023
von Willebrand disease type 11May 2, 2023