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Center for Genomics (Ann and Robert H. Lurie Children's Hospital of Chicago)

General information

Center for Genomics
Ann and Robert H. Lurie Children's Hospital of Chicago
225 E. Chicago Avenue Box 82
Chicago
Illinois
United States - 60611
https://www.luriechildrens.org/en-us/Pages/index.aspx
Organization ID: 506344

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2371

Gene

GeneSubmissionsLast Updated
ABCC91Apr 18, 2025
ABCD12Apr 18, 2025
ACADVL2May 2, 2023
ACP51Apr 21, 2023
ACTA21Apr 18, 2025
ACTB1Nov 30, 2023
ACTN23Apr 18, 2025
ACVRL11Apr 21, 2023
ADA2Apr 21, 2023
ADA21Apr 18, 2023
ADAM172May 2, 2023
ADAMTS107Apr 21, 2023
ADAMTS1711May 2, 2023
ADAMTS23Apr 21, 2023
ADAMTSL415Apr 18, 2025
ADAMTSL4-AS28Apr 18, 2025
ADAR2Apr 18, 2025
ADSL4Apr 21, 2023
AFG2A1Mar 29, 2022
AFG3L21Apr 18, 2025
AGL1Apr 18, 2025
AICDA1Mar 29, 2022
AIRE2Apr 18, 2023
AKAP99May 2, 2023
ALDH5A11Apr 21, 2023
ALDH7A12Apr 21, 2023
ALG131Apr 21, 2023
ALMS17Apr 18, 2023
AMT2Mar 8, 2024
ANK211Apr 18, 2025
ANK31Apr 18, 2023
ANKRD262Apr 18, 2023
AOPEP1Mar 29, 2022
AP3B18Apr 21, 2023
AP3D12Mar 29, 2022
APC3Apr 18, 2025
ARFGEF1-DT3Apr 18, 2025
ARHGEF151Apr 26, 2023
ARHGEF91May 2, 2023
ARPC1B2Apr 18, 2023
ARX1Apr 18, 2023
ASNS1Apr 21, 2023
ASXL12Apr 18, 2025
ATM13Apr 18, 2025
ATP13A27Apr 18, 2025
ATP1A34Apr 18, 2023
ATP6AP22Apr 18, 2025
ATP7B2May 2, 2023
ATRX4Apr 18, 2025
B3GALT61Apr 18, 2025
B4GALT72Apr 18, 2023
BACH22Apr 18, 2023
BAG32Apr 18, 2025
BCKDHA1Apr 18, 2023
BCL11A3Apr 21, 2023
BCL11B2Apr 18, 2025
BCR3Apr 18, 2025
BGN1Apr 18, 2025
BLM4Apr 21, 2023
BLNK1Apr 18, 2023
BLOC1S61Apr 18, 2023
BRAF4Apr 18, 2025
BRAT12Apr 18, 2025
BRCA21Apr 18, 2025
BSND1Apr 18, 2025
BTK3Apr 18, 2025
C11orf654Apr 18, 2025
C12orf571Apr 18, 2023
C1QA1Apr 18, 2023
C1QB1Apr 21, 2023
C1QC4May 2, 2023
C1R3Apr 21, 2023
C1S4Apr 18, 2025
C24Apr 18, 2025
C2-AS11Apr 18, 2025
C34Apr 18, 2025
C52Apr 18, 2025
C62May 2, 2023
C72Apr 18, 2023
C8A1Apr 21, 2023
C8B4Apr 21, 2023
C8G2Apr 26, 2023
C95Apr 18, 2025
CACNA1A7Apr 18, 2025
CACNA1C7Apr 18, 2025
CACNA1C-AS12Apr 18, 2025
CACNA1H1Apr 18, 2025
CACNA2D23Apr 21, 2023
CACNB22Apr 18, 2023
CALM21Apr 18, 2023
CALR31Apr 26, 2023
CARD114Apr 18, 2025
CARD11-AS11Apr 18, 2025
CARD144Apr 18, 2025
CARD96May 2, 2023
CARMIL23Apr 18, 2023
CARS22Apr 18, 2023
CASP103Apr 18, 2025
CASP82Apr 18, 2025
CASQ21May 2, 2023
CATIP-AS21May 2, 2023
CAVIN41Apr 26, 2023
CBS3Apr 18, 2025
CCBE12Apr 21, 2023
CCR22Apr 18, 2023
CCR52Apr 18, 2025
CCR5AS2Apr 18, 2025
CD192Apr 21, 2023
CD2071Apr 21, 2023
CD2092Apr 18, 2025
CD223May 2, 2023
CD2472Apr 21, 2023
CD3D1Apr 18, 2023
CD3E2Apr 18, 2025
CD3G1Apr 18, 2023
CD42Apr 18, 2025
CD401Apr 21, 2023
CD441Apr 18, 2023
CD461Apr 18, 2023
CD551Apr 18, 2025
CD79A1Apr 21, 2023
CD79B1Apr 21, 2023
CD812Apr 21, 2023
CD8A3May 2, 2023
CDAN11Mar 29, 2022
CDCA7L2Apr 21, 2023
CDKL51May 2, 2023
CEBPA1Apr 21, 2023
CFB2Apr 18, 2025
CFD1Apr 21, 2023
CFH3Apr 18, 2025
CFHR43May 2, 2023
CFI3Apr 18, 2025
CFP1Apr 18, 2023
CHD24Apr 21, 2023
CHD79Apr 18, 2025
CHEK23Apr 18, 2025
CHRNA22Apr 21, 2023
CHRNA410Apr 18, 2025
CHRNB21Apr 18, 2023
CIITA12Apr 18, 2025
CKMT21Apr 26, 2023
CKMT2-AS11Apr 26, 2023
CLCN41Apr 21, 2023
CLCN72Apr 18, 2023
CLEC7A2Apr 18, 2025
CLN65Apr 18, 2025
CLN83Apr 18, 2025
CNTN24Apr 21, 2023
CNTNAP28Apr 18, 2025
COL12A14Apr 18, 2025
COL1A12Apr 18, 2025
COL1A21Apr 18, 2025
COL3A120Apr 18, 2025
COL5A128Apr 18, 2025
COL5A222May 10, 2024
COL6A31Apr 18, 2025
COLEC111Apr 21, 2023
COPA2Mar 29, 2022
CORO1A2Apr 21, 2023
CPA63Apr 18, 2025
CR211Apr 18, 2025
CRKL1May 2, 2023
CSF2RA3Apr 26, 2023
CSF2RB3Apr 18, 2023
CSF3R7Apr 18, 2025
CSRP31Apr 18, 2025
CTC14Apr 21, 2023
CTLA42Apr 18, 2025
CTPS11May 2, 2023
CTSC1Apr 18, 2025
CTSD1May 3, 2023
CTSF2Apr 18, 2023
CUX22Apr 18, 2023
CX3CR11Apr 18, 2025
CXCL121Apr 18, 2023
CXCR13Apr 21, 2023
CXCR43Apr 18, 2025
CYB561D22Apr 21, 2023
CYBA2Apr 21, 2023
CYBB1Apr 18, 2025
CYLD-AS11Apr 18, 2025
CZ1P-ASNS1Apr 21, 2023
DCLRE1C6Apr 18, 2025
DDX3X1Apr 18, 2023
DEPDC52Apr 21, 2023
DHX161Mar 24, 2023
DIAPH11Apr 18, 2025
DICER11Apr 18, 2025
DIPK1A1Mar 29, 2022
DMD4Apr 18, 2025
DNAH113Apr 21, 2023
DNAJC211Apr 18, 2023
DNM11Apr 21, 2023
DNMT3B6Apr 18, 2025
DOCK73Apr 18, 2023
DOCK88Apr 21, 2023
DOLK1Apr 18, 2023
DSC24Apr 18, 2025
DSG23Apr 18, 2025
DSG2-AS12Apr 18, 2025
DSP10Apr 18, 2025
DSP-AS11Apr 18, 2025
DTNA2Apr 18, 2023
DUSP292Apr 18, 2025
DYNC1H115Apr 18, 2025
DYRK1A1Apr 21, 2023
EEF1A23Apr 18, 2025
EFEMP25Apr 21, 2023
EFHC12Apr 18, 2025
EHMT11Apr 21, 2023
EIF2B21Apr 18, 2025
ELAC21Apr 18, 2025
ELANE2Apr 18, 2025
EMD1Apr 18, 2023
ENG1Apr 21, 2023
EPB41L21May 2, 2023
EPG511Apr 21, 2023
EPHB43Apr 18, 2025
EPM2A3Apr 21, 2023
EPM2A-DT2Apr 21, 2023
EPRS11May 2, 2023
ERCC43Apr 18, 2025
ERCC6L22Apr 21, 2023
EXTL31Apr 18, 2023
EYA42Apr 18, 2025
FANCA7May 2, 2023
FANCB1Mar 29, 2022
FANCC2Mar 29, 2022
FANCD24Apr 21, 2023
FANCE1Apr 18, 2023
FANCF2Apr 21, 2023
FANCI6Apr 21, 2023
FANCL5May 2, 2023
FANCM3Apr 18, 2025
FARS21Apr 18, 2025
FAS3Apr 18, 2025
FASLG3Apr 18, 2025
FASN4May 2, 2023
FAT45Apr 18, 2025
FBN158May 21, 2025
FBN218Apr 18, 2025
FCGR2A2Apr 18, 2025
FCGR3A2Apr 21, 2023
FCN31Apr 18, 2023
FERMT35Apr 21, 2023
FGFR31Nov 30, 2023
FHOD11May 2, 2023
FHOD31Apr 18, 2023
FKRP6Apr 18, 2025
FKTN1Apr 18, 2025
FLNA10Apr 18, 2025
FLNC8Apr 18, 2025
FLNC-AS11Apr 18, 2023
FOXF12Apr 18, 2023
FOXG12Apr 18, 2023
FOXN16Apr 18, 2025
FOXP34Apr 21, 2023
FPR11Apr 26, 2023
FRRS1L1Apr 21, 2023
G6PC33Apr 18, 2025
G6PD2Apr 18, 2023
GAA1Apr 18, 2023
GABRA11Apr 18, 2025
GABRB33Apr 18, 2025
GABRD2Apr 18, 2025
GABRG24Apr 18, 2025
GAMT5Apr 21, 2023
GARS11May 2, 2023
GATA22Apr 18, 2025
GATA41Apr 18, 2025
GATA62Apr 18, 2025
GATAD11Apr 18, 2023
GATM2Apr 18, 2025
GBA12May 2, 2023
GCDH2Apr 18, 2023
GCK2Apr 18, 2025
GFI13Apr 18, 2025
GH-LCR1Apr 21, 2023
GJB26Apr 18, 2025
GLDC4Mar 8, 2024
GLRA11Apr 18, 2023
GNAO11Apr 18, 2025
GNB11Apr 18, 2025
GOSR21Mar 29, 2022
GPD1L1Apr 18, 2023
GRIN14Apr 18, 2025
GRIN2A1Apr 18, 2023
GRIN2B3Apr 18, 2025
GRIN2D2May 2, 2023
HAX13Apr 21, 2023
HBA-LCR1Apr 21, 2023
HCN15Apr 18, 2025
HCN42Apr 18, 2025
HELLS2Apr 18, 2023
HEXA1Apr 21, 2023
HFE2Apr 18, 2025
HFE-AS11Apr 18, 2025
HNRNPU3May 2, 2023
HOXA111Mar 29, 2022
HRAS1Apr 18, 2025
HYOU11Mar 29, 2022
IAH12May 2, 2023
ICAM14Apr 21, 2023
ICOS1Apr 18, 2023
IER3IP11Apr 18, 2023
IFIH126Apr 18, 2025
IFNAR21Apr 18, 2025
IFNAR2-IL10RB4Apr 18, 2025
IFNGR15Apr 18, 2025
IFNGR21Apr 21, 2023
IGLL13May 2, 2023
IKBKB1Apr 18, 2025
IKBKG4Apr 18, 2025
IL101Apr 18, 2025
IL10RA2Apr 18, 2023
IL10RB3Apr 18, 2025
IL12B2Apr 21, 2023
IL12RB13Apr 18, 2023
IL17RA5Apr 21, 2023
IL17RC1Mar 29, 2022
IL191Apr 18, 2025
IL1RN3Apr 18, 2025
IL21R4Apr 18, 2025
IL21R-AS12Apr 18, 2025
IL2RA1Apr 18, 2025
IL2RG2Apr 18, 2025
IL4R2Apr 18, 2025
IL7R4Apr 21, 2023
INO803May 2, 2023
INVS1Apr 18, 2023
IRF2BP22Apr 18, 2023
IRF2BPL1Nov 30, 2023
IRF72Mar 29, 2022
IRF81Apr 18, 2025
ISG151Apr 21, 2023
ITCH3May 2, 2023
ITGAM1Apr 26, 2023
ITGB26Apr 21, 2023
ITK1Apr 21, 2023
JAK12Apr 18, 2023
JAK33May 2, 2023
JMJD1C3Apr 26, 2023
JPH26Apr 18, 2025
JUP3Apr 18, 2025
KANSL15Apr 21, 2023
KAT6B4Apr 18, 2025
KCNB12Apr 21, 2023
KCNC11Apr 18, 2023
KCND22May 2, 2023
KCNE11Apr 18, 2025
KCNH11Apr 18, 2025
KCNH212Apr 18, 2025
KCNJ103Apr 18, 2025
KCNJ81Apr 26, 2023
KCNJ8-AS11Apr 26, 2023
KCNK171Apr 26, 2023
KCNMA14Apr 18, 2025
KCNMA1-AS14Apr 18, 2025
KCNQ13Apr 18, 2025
KCNQ24Apr 18, 2025
KCNQ31Apr 21, 2023
KCNT110Apr 18, 2025
KDM6A1Apr 18, 2023
KIT1Apr 18, 2025
KMT2D36Apr 18, 2025
KPNA71May 2, 2023
KRAS4Apr 18, 2025
KRIT13Apr 18, 2025
KRT101Apr 18, 2025
LAMA43May 2, 2023
LAMA4-AS11May 2, 2023
LAMB31Apr 18, 2025
LAMP21Apr 18, 2023
LAMTOR21Apr 21, 2023
LCK2Apr 21, 2023
LDB31Apr 18, 2025
LDLR1Apr 21, 2023
LIG48Apr 18, 2025
LIMASI1Apr 18, 2023
LIPA1Apr 21, 2023
LIX1L-AS11Apr 21, 2023
LMNA2Apr 18, 2025
LMNB21Apr 18, 2025
LMOD21Apr 18, 2023
LOC10144820210Apr 18, 2025
LOC1019280081Mar 29, 2022
LOC1027235661Apr 21, 2023
LOC1027240583Apr 18, 2025
LOC1060293121Apr 21, 2023
LOC1066279812May 2, 2023
LOC1067808031Apr 18, 2025
LOC1071262811Mar 29, 2022
LOC1073033384Apr 21, 2023
LOC1076488511Apr 21, 2023
LOC1079846381Nov 30, 2023
LOC1082811262Apr 18, 2023
LOC1092865633Apr 18, 2025
LOC1100112162Apr 18, 2025
LOC1101212691Apr 18, 2025
LOC1125336721Mar 29, 2022
LOC1148034702Apr 18, 2025
LOC1148034783Apr 18, 2025
LOC1148278271Apr 18, 2025
LOC1148278511Apr 18, 2025
LOC1244184212Apr 18, 2025
LOC1268057491Mar 29, 2022
LOC1268058511Apr 21, 2023
LOC1268058741Apr 18, 2025
LOC1268059942Apr 18, 2025
LOC1268060673Apr 18, 2025
LOC1268060681Apr 18, 2025
LOC1268065161Apr 21, 2023
LOC1268071271Mar 29, 2022
LOC1268071372Apr 18, 2025
LOC1268072461Apr 26, 2023
LOC1268595651Apr 18, 2025
LOC1268601242Apr 18, 2025
LOC1268602161Apr 18, 2025
LOC1268604031Apr 18, 2025
LOC1268608751Apr 26, 2023
LOC1268615201Apr 18, 2025
LOC1268618971Apr 18, 2025
LOC1268621242Nov 30, 2023
LOC1268622649Apr 18, 2025
LOC1268625751Mar 29, 2022
LOC1268627371Apr 18, 2023
LOC1268630141Apr 18, 2025
LOC1268630872Apr 18, 2025
LOC1268630941Mar 29, 2022
LOC1268631401Mar 29, 2022
LOC1268632741Apr 18, 2025
LOC1278985642Apr 21, 2023
LOC1284624091Apr 18, 2025
LOC1293912591Apr 21, 2023
LOC1299314421Apr 26, 2023
LOC1299328121Mar 29, 2022
LOC1299367362May 2, 2023
LOC1299962451Apr 18, 2023
LOC1299973812Apr 21, 2023
LOC1299987931Apr 18, 2023
LOC1299996601Apr 18, 2025
LOC1300003381Apr 21, 2023
LOC1300062351Apr 18, 2023
LOC1300089871Dec 29, 2020
LOC1300095751May 2, 2023
LOC1300570191Apr 18, 2025
LOC1300585151May 2, 2023
LOC1300587122Apr 18, 2025
LOC1300605501Apr 18, 2023
LOC1300609591Apr 21, 2023
LOC1300610642Apr 18, 2025
LOC1300617851Apr 21, 2023
LOC1300617861Apr 21, 2023
LOC1300617922Apr 18, 2023
LOC1300617952Apr 18, 2023
LOC1300629452Apr 21, 2023
LOC1300641831Apr 21, 2023
LOC1300645101Apr 18, 2025
LOC1300675741Apr 18, 2023
LOC1320905951Apr 18, 2025
LOX1Apr 21, 2023
LPIN27Apr 21, 2023
LRBA11May 2, 2023
LRRC37A21Mar 29, 2022
LRRC561Apr 18, 2025
LTBP224Apr 18, 2025
LYST21Apr 21, 2023
MAGI22Apr 21, 2023
MAGT12Mar 29, 2022
MALT11Apr 21, 2023
MAP2K12Apr 18, 2025
MAP3K142May 2, 2023
MAP3K14-AS11Mar 29, 2022
MASP15Apr 21, 2023
MASP25Apr 21, 2023
MBD55Apr 26, 2023
MCFD23Apr 18, 2023
MCM44Apr 21, 2023
MECP213Apr 18, 2025
MED121Apr 18, 2025
MEFV36Apr 18, 2025
MFN21Apr 18, 2025
MFSD82Apr 18, 2025
MICU11Apr 21, 2023
MLH13Apr 18, 2025
MOGS4Apr 21, 2023
MRE113May 2, 2023
MRTFA2Mar 29, 2022
MS4A11Apr 21, 2023
MSH21Apr 18, 2025
MSH61Apr 18, 2025
MTHFD12Apr 18, 2025
MTO11Apr 18, 2023
MUS811Apr 21, 2023
MVK2Apr 18, 2025
MVP-DT3Apr 18, 2025
MYBPC36Apr 18, 2025
MYH1122Apr 18, 2025
MYH63Apr 18, 2025
MYH72Apr 18, 2025
MYL32Apr 21, 2023
MYL41Apr 18, 2023
MYLK20Apr 18, 2025
MYLK-AS12Apr 18, 2025
MYLK21Apr 18, 2023
MYO18A1May 3, 2023
MYO18B1Apr 18, 2023
MYO5A2Apr 18, 2023
MYOM18Apr 26, 2023
MYOZ21Apr 18, 2023
MYPN4Apr 18, 2025
NALCN2Apr 18, 2025
NBN3Apr 18, 2025
NCF11Apr 21, 2023
NCF22Apr 21, 2023
NCF41Apr 18, 2023
NCSTN1Apr 18, 2023
NDE114Apr 18, 2025
NEBL1Apr 26, 2023
NEDD4L2May 2, 2023
NEXMIF4May 2, 2023
NEXN1Apr 18, 2025
NF116Apr 18, 2025
NFAT51Apr 26, 2023
NFKB11Mar 29, 2022
NFKB23Apr 21, 2023
NFKBIA1Apr 21, 2023
NHEJ11Apr 21, 2023
NKIRAS11Apr 21, 2023
NKX2-51Apr 18, 2025
NLRC44Apr 18, 2025
NLRP126Apr 21, 2023
NLRP313Apr 18, 2025
NOD217Apr 18, 2025
NOTCH113Apr 18, 2025
NPIPB22May 2, 2023
NPPA1Apr 18, 2025
NPPA-AS11Apr 18, 2025
NPR21Apr 18, 2025
NPRL31Apr 21, 2023
NRAS1Sep 22, 2017
NRXN18Apr 18, 2025
NSUN62Apr 18, 2023
OBSCN1May 2, 2023
ORAI12Apr 18, 2025
OTC1May 2, 2023
OTULIN2Apr 18, 2025
PACS12Apr 18, 2023
PAH3Apr 18, 2025
PALB22Apr 18, 2025
PARN3Apr 18, 2025
PCCB1Apr 18, 2023
PCDH193Apr 21, 2023
PDLIM31Apr 26, 2023
PGM35Apr 21, 2023
PHKA21Apr 21, 2023
PHOX2B4Apr 18, 2025
PIGA2Apr 18, 2025
PIGO3Apr 21, 2023
PIGQ4Apr 21, 2023
PIGV5Apr 21, 2023
PIK3AP12Apr 26, 2023
PIK3CD2Apr 18, 2025
PIK3R12Apr 18, 2025
PKD21Apr 18, 2023
PKP25May 2, 2023
PLCB14May 2, 2023
PLCG27Apr 18, 2025
PLOD18Apr 21, 2023
PMM23Apr 18, 2023
PMS21Apr 18, 2025
PNKD2May 2, 2023
PNKP3Apr 18, 2025
PNP1Apr 21, 2023
PNPO2Apr 21, 2023
POLE9Apr 18, 2025
POLE21Apr 26, 2023
POLG14Apr 18, 2025
POLGARF14Apr 18, 2025
PRDM164Apr 18, 2025
PRF12Apr 18, 2025
PRICKLE13Apr 21, 2023
PRICKLE23May 2, 2023
PRICKLE2-AS12May 2, 2023
PRIMA11Apr 26, 2023
PRKAG23Apr 18, 2025
PRKCD2Apr 21, 2023
PRKDC9Apr 21, 2023
PROC1Apr 18, 2025
PRRT23Apr 18, 2025
PSMB82Apr 18, 2023
PSTPIP13Apr 21, 2023
PTPN1116Apr 18, 2025
PTPN62May 2, 2023
PTPRC13Apr 18, 2025
QARS15May 29, 2025
RAB27A2Apr 21, 2023
RAC21Apr 18, 2025
RAD51C2Apr 18, 2025
RAF15Apr 18, 2025
RAG15Apr 18, 2025
RAG22Apr 18, 2025
RASA12Apr 18, 2025
RASGRP12Apr 18, 2023
RBCK12Apr 21, 2023
RBM206Apr 18, 2023
RBM8A2Apr 21, 2023
RC3H11Apr 18, 2023
RECQL45Apr 18, 2025
RELA3Apr 18, 2023
RELN6Apr 18, 2025
RFX52Apr 18, 2025
RFXANK3Apr 21, 2023
RFXAP1May 2, 2023
RIT11Apr 21, 2023
RMRP2Apr 18, 2025
RNASEH2B2Apr 21, 2023
RNF1682Apr 21, 2023
RNF2071May 2, 2023
RNF2133Apr 21, 2023
RNF213-AS13Apr 21, 2023
RNF313Apr 26, 2023
ROGDI4Apr 21, 2023
RPL151Apr 21, 2023
RPL261Apr 18, 2023
RPL51Mar 29, 2022
RPS241Apr 18, 2023
RPSA1Apr 21, 2023
RTEL18Apr 18, 2025
RTEL1-TNFRSF6B8Apr 18, 2025
RUNX12Apr 18, 2025
RUNX1-AS11Apr 18, 2025
RYR12Apr 18, 2025
RYR211Apr 18, 2025
RYR37May 2, 2023
SAMD94Apr 18, 2025
SAMD9L3Apr 18, 2025
SARS21Nov 30, 2023
SBDS5Apr 18, 2025
SBF21Mar 29, 2022
SCARB26Apr 21, 2023
SCN1A12Apr 18, 2025
SCN1A-AS17Apr 18, 2025
SCN1B2Apr 18, 2025
SCN2A15Apr 18, 2025
SCN2B1Apr 18, 2023
SCN3A3Apr 18, 2025
SCN4B1Apr 18, 2025
SCN5A15Apr 18, 2025
SCN8A6Apr 18, 2025
SCN9A7Apr 18, 2025
SDC11May 2, 2023
SELE4May 2, 2023
SELENON1Apr 18, 2025
SELP6May 2, 2023
SEMA3A2May 2, 2023
SERPINA12Apr 18, 2025
SERPING13Apr 18, 2025
SETD28Apr 18, 2025
SGCD1Apr 18, 2025
SGCG1Apr 18, 2023
SGSH2Apr 18, 2025
SH3BP25Apr 21, 2023
SIK13Apr 18, 2023
SKI5Apr 21, 2023
SKIC39May 2, 2023
SLC12A51Apr 18, 2025
SLC13A51Apr 21, 2023
SLC19A31Apr 18, 2023
SLC25A121Apr 21, 2023
SLC25A223Apr 18, 2023
SLC26A5-AS12Apr 18, 2025
SLC29A33Apr 21, 2023
SLC2A15Apr 18, 2025
SLC2A105Apr 21, 2023
SLC35C11Apr 21, 2023
SLC37A46Apr 18, 2025
SLC39A131Apr 26, 2023
SLC46A12Apr 18, 2023
SLC6A11Apr 21, 2023
SLC6A82Apr 18, 2023
SLC7A71Apr 18, 2023
SLX47May 3, 2023
SMAD32Apr 21, 2023
SMAD42May 2, 2023
SMARCA21Apr 18, 2025
SMARCA41Jun 5, 2024
SMARCAL15May 2, 2023
SNHG142Apr 21, 2023
SNTA12Apr 18, 2023
SNX271Apr 26, 2023
SOS18Apr 18, 2025
SOS22Apr 18, 2023
SP1106Apr 18, 2025
SP1404Apr 18, 2025
SPINK57May 2, 2023
SPTAN18Apr 21, 2023
SRFBP11Apr 21, 2023
ST3GAL33Apr 18, 2025
ST3GAL51Apr 18, 2023
STAT13Apr 18, 2025
STAT22Apr 18, 2025
STAT33Apr 18, 2025
STAT5B6Apr 18, 2025
STIM16Apr 18, 2025
STING12Dec 22, 2023
STK41Apr 18, 2023
STRADA1Apr 18, 2023
STXBP22Apr 21, 2023
SYN11Apr 18, 2023
SYNE11Apr 18, 2025
SYNPO2L1Apr 26, 2023
SZT25Apr 18, 2023
SZT2-AS11Apr 18, 2023
TANGO21Apr 18, 2023
TAP13Apr 21, 2023
TAP26May 2, 2023
TAPBP1Apr 21, 2023
TARDBP1Apr 21, 2023
TBC1D243Apr 18, 2025
TBK12Apr 18, 2023
TBL1XR11Apr 18, 2025
TBX13Apr 18, 2025
TBX2111Apr 18, 2025
TBX51Apr 18, 2023
TBXAS12Dec 12, 2018
TCAP1Apr 18, 2025
TCF37Apr 18, 2025
TCF42Apr 18, 2025
TCN25May 2, 2023
TECRL1Apr 18, 2023
TERT6Apr 18, 2025
TFRC1Mar 29, 2022
TGFB11Apr 18, 2025
TGFB21Apr 18, 2023
TGFB35Apr 18, 2025
TGFBR14Apr 18, 2025
TGFBR29Apr 18, 2025
TGM12Apr 18, 2023
THBD2Apr 18, 2025
TICAM12Apr 21, 2023
TINF22Apr 18, 2025
TLN12Apr 26, 2023
TLR22Apr 18, 2025
TLR31Apr 18, 2025
TMC67Apr 21, 2023
TMC814Apr 18, 2023
TMEM431Apr 18, 2025
TMPO1Apr 26, 2023
TNFAIP33Apr 18, 2023
TNFRSF13B7Apr 18, 2025
TNFRSF13C1Apr 18, 2023
TNFRSF172May 2, 2023
TNFRSF1A2Apr 18, 2025
TNFRSF41Mar 29, 2022
TNFSF121Mar 29, 2022
TNFSF12-TNFSF132May 2, 2023
TNFSF131May 2, 2023
TNNI32Apr 18, 2025
TNNT21Apr 18, 2025
TNXB19May 29, 2025
TPM12Apr 18, 2025
TPP16Apr 18, 2025
TPP23Apr 18, 2023
TRAF31Mar 29, 2022
TRAF3IP24Apr 18, 2025
TRAF3IP2-AS14Apr 18, 2025
TRDN6Dec 5, 2024
TRDN-AS11Apr 18, 2023
TRNT12Apr 18, 2025
TSC15Apr 18, 2025
TSC232Apr 18, 2025
TTC7A12Apr 18, 2023
TTN2Apr 18, 2025
TTN-AS12Apr 18, 2025
TUBA1A1Apr 18, 2023
TXNRD23May 2, 2023
TYK25Apr 21, 2023
UBE3A2Apr 21, 2023
UNC1191Apr 21, 2023
UNC13D7Apr 21, 2023
UNC93B12Apr 18, 2023
USB11Apr 21, 2023
USH2A2Apr 18, 2025
USH2A-AS11Apr 18, 2025
VAV13May 2, 2023
VCL4Apr 18, 2025
VPS13B25Dec 4, 2023
VPS452Apr 21, 2023
VRK22Mar 29, 2022
WAS2Apr 18, 2025
WDR11Mar 29, 2022
WDR451Apr 21, 2023
WIPF14Apr 18, 2023
WRAP535Apr 21, 2023
WWOX1Apr 18, 2025
XIRP11Apr 26, 2023
XIRP21May 2, 2023
ZAP702Apr 18, 2025
ZBTB243Apr 21, 2023
ZCCHC81Apr 21, 2023
ZEB22Apr 21, 2023
ZNF2761Apr 18, 2023
ZNF3413Apr 21, 2023
ZNF341-AS12Apr 21, 2023
ZNF46917May 2, 2023

Condition

NameSubmissionsLast Updated
3MC syndrome 15Apr 21, 2023
3MC syndrome 21Apr 21, 2023
Absence seizure1Dec 12, 2018
Achondroplasia1Nov 30, 2023
Acne inversa, familial, 11Apr 18, 2023
Acquired hemoglobin H disease3Apr 18, 2025
Acromesomelic dysplasia 1, Maroteaux type1Apr 18, 2025
Acromicric dysplasia36Apr 18, 2025
Action myoclonus-renal failure syndrome6Apr 21, 2023
Acute febrile neutrophilic dermatosis18Apr 18, 2025
Acute lymphoid leukemia7Apr 18, 2025
Acute myeloid leukemia14Apr 18, 2025
Adams-Oliver syndrome 513Apr 18, 2025
Adenylosuccinate lyase deficiency4Apr 21, 2023
Adrenoleukodystrophy2Apr 18, 2025
Adult neuronal ceroid lipofuscinosis1Dec 12, 2018
Afibrinogenemia1Dec 12, 2018
Agammaglobulinemia 2, autosomal recessive3May 2, 2023
Agammaglobulinemia 3, autosomal recessive1Apr 21, 2023
Agammaglobulinemia 4, autosomal recessive1Apr 18, 2023
Agammaglobulinemia 6, autosomal recessive1Apr 21, 2023
Agammaglobulinemia 7, autosomal recessive2Apr 18, 2025
Agammaglobulinemia 8, autosomal dominant7Apr 18, 2025
Agammaglobulinemia 8b, autosomal recessive4Apr 18, 2025
Age related macular degeneration 121Apr 18, 2025
Age related macular degeneration 133Apr 18, 2025
Age related macular degeneration 145Apr 18, 2025
Age related macular degeneration 155Apr 18, 2025
Age related macular degeneration 43Apr 18, 2025
Age related macular degeneration 94Apr 18, 2025
Aicardi-Goutieres syndrome 22Apr 21, 2023
Aicardi-Goutieres syndrome 62Apr 18, 2025
Aicardi-Goutieres syndrome 726Apr 18, 2025
Alpha thalassemia-X-linked intellectual disability syndrome4Apr 18, 2025
Alpha-1-antitrypsin deficiency2Apr 18, 2025
Alstrom syndrome7Apr 18, 2023
Alternating hemiplegia of childhood 24Apr 18, 2023
Alveolar capillary dysplasia with pulmonary venous misalignment2Apr 18, 2023
Alzheimer disease type 12Apr 18, 2025
Amelocerebrohypohidrotic syndrome4Apr 21, 2023
Amelogenesis imperfecta type 1A1Apr 18, 2025
Anauxetic dysplasia 12Apr 18, 2025
Anemia, congenital dyserythropoietic, type 1a1Mar 29, 2022
Aneurysm-osteoarthritis syndrome2Apr 21, 2023
Angelman syndrome2Apr 21, 2023
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1Dec 12, 2018
Aortic aneurysm, familial thoracic 101Apr 21, 2023
Aortic aneurysm, familial thoracic 422Apr 18, 2025
Aortic aneurysm, familial thoracic 61Apr 18, 2025
Aortic aneurysm, familial thoracic 720Apr 18, 2025
Aortic valve disease 113Apr 18, 2025
Aplastic anemia10Apr 18, 2025
Arginine:glycine amidinotransferase deficiency2Apr 18, 2025
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma10Apr 18, 2025
Arrhythmogenic right ventricular dysplasia 14Apr 18, 2025
Arrhythmogenic right ventricular dysplasia 103Apr 18, 2025
Arrhythmogenic right ventricular dysplasia 113Apr 18, 2025
Arrhythmogenic right ventricular dysplasia 123Apr 18, 2025
Arrhythmogenic right ventricular dysplasia 51Apr 18, 2025
Arrhythmogenic right ventricular dysplasia 810Apr 18, 2025
Arrhythmogenic right ventricular dysplasia 95May 2, 2023
Arterial tortuosity syndrome5Apr 21, 2023
Arthrogryposis multiplex congenita 3, myogenic type1Apr 18, 2025
Aspergillosis, susceptibility to1Apr 18, 2025
Asthma, nasal polyps, and aspirin intolerance11Apr 18, 2025
Ataxia - oculomotor apraxia type 43Apr 18, 2025
Ataxia-pancytopenia syndrome3Apr 18, 2025
Ataxia-telangiectasia syndrome12Apr 18, 2025
Ataxia-telangiectasia-like disorder 12Apr 18, 2023
Atrial fibrillation, familial, 1015Apr 18, 2025
Atrial fibrillation, familial, 121Apr 18, 2025
Atrial fibrillation, familial, 132Apr 18, 2025
Atrial fibrillation, familial, 141Apr 18, 2023
Atrial fibrillation, familial, 181Apr 18, 2023
Atrial fibrillation, familial, 33Apr 18, 2025
Atrial fibrillation, familial, 61Apr 18, 2025
Atrial septal defect 21Apr 18, 2025
Atrial septal defect 33Apr 18, 2025
Atrial septal defect 71Apr 18, 2025
Atrial septal defect 92Apr 18, 2025
Atrial standstill 21Apr 18, 2025
Atrioventricular septal defect 41Apr 18, 2025
Atrioventricular septal defect 52Apr 18, 2025
Atypical hemolytic-uremic syndrome with B factor anomaly1Apr 18, 2025
Atypical hemolytic-uremic syndrome with C3 anomaly4Apr 18, 2025
Atypical hemolytic-uremic syndrome with I factor anomaly3Apr 18, 2025
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Apr 18, 2023
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2Apr 18, 2025
Auditory neuropathy, autosomal dominant 31Apr 18, 2025
Autism, susceptibility to, 158Apr 18, 2025
Autism, susceptibility to, X-linked 313Apr 18, 2025
Autoimmune disease, multisystem, infantile-onset, 22Apr 18, 2025
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome3Apr 18, 2025
Autoimmune interstitial lung disease-arthritis syndrome2Mar 29, 2022
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency2Apr 18, 2025
Autoimmune lymphoproliferative syndrome type 16Apr 18, 2025
Autoimmune lymphoproliferative syndrome type 2A3Apr 18, 2025
Autoimmune lymphoproliferative syndrome type 2B2Apr 18, 2025
Autoimmune lymphoproliferative syndrome type 43Apr 18, 2025
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2Apr 21, 2023
Autoinflammation, immune dysregulation, and eosinophilia2Apr 18, 2023
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive2Apr 18, 2025
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation7Apr 18, 2025
Autoinflammatory disease, X-linked2Apr 18, 2025
Autoinflammatory syndrome, familial, Behcet-like2Mar 29, 2022
Autoinflammatory syndrome, familial, Behcet-like 11Apr 18, 2023
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures15Apr 18, 2025
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome6Apr 18, 2025
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency5Apr 18, 2025
Autosomal dominant nocturnal frontal lobe epilepsy 110Apr 18, 2025
Autosomal dominant nocturnal frontal lobe epilepsy 31Apr 18, 2023
Autosomal dominant nocturnal frontal lobe epilepsy 42Apr 21, 2023
Autosomal dominant nocturnal frontal lobe epilepsy 510Apr 18, 2025
Autosomal dominant nonsyndromic hearing loss 11Apr 18, 2025
Autosomal dominant nonsyndromic hearing loss 102Apr 18, 2025
Autosomal dominant nonsyndromic hearing loss 3A6Apr 18, 2025
Autosomal dominant nonsyndromic hearing loss 653Apr 18, 2025
Autosomal dominant osteopetrosis 22Apr 18, 2023
Autosomal recessive ataxia, Beauce type1Apr 18, 2025
Autosomal recessive congenital ichthyosis 12Apr 18, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2C1Apr 18, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2F1Apr 18, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2G1Apr 18, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2I6Apr 18, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2J2Apr 18, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2M1Apr 18, 2025
Autosomal recessive nonsyndromic hearing loss 1A6Apr 18, 2025
Autosomal recessive nonsyndromic hearing loss 43Apr 18, 2025
Autosomal recessive nonsyndromic hearing loss 863Apr 18, 2025
Autosomal recessive osteopetrosis 42Apr 18, 2023
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity2Apr 21, 2023
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency7Apr 18, 2025
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency3Apr 18, 2025
Autosomal recessive spastic paraplegia type 787Apr 18, 2025
Autosomal recessive spinocerebellar ataxia 121Apr 18, 2025
Autosomal recessive spinocerebellar ataxia 76Apr 18, 2025
BENTA disease4Apr 18, 2025
Baller-Gerold syndrome5Apr 18, 2025
Baraitser-Winter syndrome1Nov 30, 2023
Bartter disease type 4A1Apr 18, 2025
Basal cell carcinoma, susceptibility to, 12Apr 18, 2025
Basal laminar drusen3Apr 18, 2025
Becker muscular dystrophy4Apr 18, 2025
Bethlem myopathy 1A1Apr 18, 2025
Bethlem myopathy 24Apr 18, 2025
Biotin-responsive basal ganglia disease1Apr 18, 2023
Birbeck granule deficiency1Apr 21, 2023
Blau syndrome17Apr 18, 2025
Blepharophimosis - intellectual disability syndrome, MKB type1Apr 18, 2025
Blepharophimosis - intellectual disability syndrome, SBBYS type4Apr 18, 2025
Blepharophimosis-impaired intellectual development syndrome1Apr 18, 2025
Blood group, Indian system1Apr 18, 2023
Bloom syndrome4Apr 21, 2023
Bohring-Opitz syndrome2Apr 18, 2025
Bone marrow failure syndrome 31Apr 18, 2023
Bone osteosarcoma3Apr 18, 2025
Breast-ovarian cancer, familial, susceptibility to, 21Apr 18, 2025
Breast-ovarian cancer, familial, susceptibility to, 32Apr 18, 2025
Brittle cornea syndrome 117May 2, 2023
Brugada syndrome 115Apr 18, 2025
Brugada syndrome 21Apr 18, 2023
Brugada syndrome 37Apr 18, 2025
Brugada syndrome 42Apr 18, 2023
Brugada syndrome 52Apr 18, 2025
Brugada syndrome 82Apr 18, 2025
C1 inhibitor deficiency3Apr 18, 2025
C1Q deficiency6May 2, 2023
CHARGE syndrome9Apr 18, 2025
CHEK2-related cancer predisposition3Apr 18, 2025
Café-au-lait macules with pulmonary stenosis14Apr 18, 2025
Candidiasis, familial, 84Apr 18, 2025
Candidiasis, familial, 91Mar 29, 2022
Capillary malformation-arteriovenous malformation 12Apr 18, 2025
Capillary malformation-arteriovenous malformation 22Apr 18, 2025
Carcinoma of pancreas3May 2, 2023
Cardiac arrhythmia, ankyrin-B-related11Apr 18, 2025
Cardiac valvular dysplasia, X-linked10Apr 18, 2025
Cardiofaciocutaneous syndrome 14Apr 18, 2025
Cardiofaciocutaneous syndrome 24Apr 18, 2025
Cardiofaciocutaneous syndrome 32Apr 18, 2025
Cardiomyopathy, dilated, 2E6Apr 18, 2025
Cardiomyopathy, dilated, 2G1Apr 18, 2023
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis10Apr 18, 2025
Cardiomyopathy, familial hypertrophic, 281Apr 18, 2023
Cardiomyopathy, familial restrictive, 12Apr 18, 2025
Cardiomyopathy, familial restrictive, 31Apr 18, 2025
Catecholaminergic polymorphic ventricular tachycardia 111Apr 18, 2025
Catecholaminergic polymorphic ventricular tachycardia 21May 2, 2023
Catecholaminergic polymorphic ventricular tachycardia 31Apr 18, 2023
Catecholaminergic polymorphic ventricular tachycardia 56Dec 5, 2024
Celiac disease, susceptibility to, 32Apr 18, 2025
Central core myopathy2Apr 18, 2025
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease4Apr 18, 2025
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome4Apr 18, 2023
Cerebellar atrophy with seizures and variable developmental delay3Apr 21, 2023
Cerebellar atrophy, developmental delay, and seizures4Apr 18, 2025
Cerebral arteriovenous malformation2Apr 18, 2025
Cerebral cavernous malformation3Apr 18, 2025
Cerebroretinal microangiopathy with calcifications and cysts 14Apr 21, 2023
Cernunnos-XLF deficiency1Apr 21, 2023
Ceroid lipofuscinosis, neuronal, 6A5Apr 18, 2025
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)4Apr 18, 2025
Channelopathy-associated congenital insensitivity to pain, autosomal recessive7Apr 18, 2025
Charcot-Marie-Tooth disease axonal type 2O15Apr 18, 2025
Charcot-Marie-Tooth disease type 2A21Apr 18, 2025
Charcot-Marie-Tooth disease type 2B12Apr 18, 2025
Charcot-Marie-Tooth disease type 2B22Apr 18, 2025
Charcot-Marie-Tooth disease type 4B21Mar 29, 2022
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1Apr 18, 2025
Childhood onset GLUT1 deficiency syndrome 25Apr 18, 2025
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome21Apr 18, 2025
Chromosome 2p16.3 deletion syndrome8Apr 18, 2025
Chronic infantile neurological, cutaneous and articular syndrome13Apr 18, 2025
Chronic myelogenous leukemia, BCR-ABL1 positive3Apr 18, 2025
Chronic obstructive pulmonary disease1Apr 18, 2025
Chédiak-Higashi syndrome21Apr 21, 2023
Classic homocystinuria3Apr 18, 2025
Cognitive impairment with or without cerebellar ataxia6Apr 18, 2025
Cohen syndrome25Dec 4, 2023
Colorectal cancer10Apr 18, 2025
Colorectal cancer, hereditary nonpolyposis, type 23Apr 18, 2025
Colorectal cancer, hereditary nonpolyposis, type 68Apr 18, 2025
Colorectal cancer, susceptibility to, 126Apr 18, 2025
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia2Apr 18, 2025
Combined immunodeficiency due to CD3gamma deficiency1Apr 18, 2023
Combined immunodeficiency due to DOCK8 deficiency8Apr 21, 2023
Combined immunodeficiency due to LRBA deficiency11May 2, 2023
Combined immunodeficiency due to MALT1 deficiency1Apr 21, 2023
Combined immunodeficiency due to ORAI1 deficiency2Apr 18, 2025
Combined immunodeficiency due to OX40 deficiency1Mar 29, 2022
Combined immunodeficiency due to STIM1 deficiency6Apr 18, 2025
Combined immunodeficiency due to STK4 deficiency1Apr 18, 2023
Combined immunodeficiency due to ZAP70 deficiency2Apr 18, 2025
Combined immunodeficiency due to partial RAG1 deficiency5Apr 18, 2025
Combined immunodeficiency with faciooculoskeletal anomalies1Apr 18, 2025
Combined immunodeficiency with skin granulomas7Apr 18, 2025
Combined immunodeficiency, X-linked2Apr 18, 2025
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11Apr 18, 2025
Combined oxidative phosphorylation defect type 141Apr 18, 2025
Combined oxidative phosphorylation defect type 171Apr 18, 2025
Combined oxidative phosphorylation defect type 272Apr 18, 2023
Complement component 2 deficiency4Apr 18, 2025
Complement component 3 deficiency4Apr 18, 2025
Complement component 5 deficiency2Apr 18, 2025
Complement component 6 deficiency2May 2, 2023
Complement component 7 deficiency2Apr 18, 2023
Complement component 9 deficiency5Apr 18, 2025
Complement component C1s deficiency4Apr 18, 2025
Complement factor b deficiency1Apr 18, 2025
Congenital contractural arachnodactyly18Apr 18, 2025
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Apr 18, 2025
Congenital defect of folate absorption2Apr 18, 2023
Congenital disorder of glycosylation, type IIr1Apr 18, 2025
Congenital disorder of glycosylation, type IIw3Apr 18, 2025
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Apr 21, 2023
Congenital multicore myopathy with external ophthalmoplegia2Apr 18, 2025
Congenital muscular dystrophy due to LMNA mutation2Apr 18, 2025
Congenital myopathy 4A, autosomal dominant1Apr 18, 2025
Congenital neutropenia-myelofibrosis-nephromegaly syndrome2Apr 21, 2023
Congenital reticular ichthyosiform erythroderma1Apr 18, 2025
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2Apr 18, 2025
Conotruncal heart malformations6Apr 18, 2025
Corneal dystrophy, Fuchs endothelial, 32Apr 18, 2025
Coronary heart disease, susceptibility to, 11Apr 18, 2025
Corpus callosum agenesis-abnormal genitalia syndrome1Apr 18, 2023
Cortical dysplasia-focal epilepsy syndrome8Apr 18, 2025
Costello syndrome1Apr 18, 2025
Creatine transporter deficiency2Apr 18, 2023
Cromer blood group system1Apr 18, 2025
Cryptosporidiosis-chronic cholangitis-liver disease syndrome4Apr 18, 2025
Cutaneous mastocytosis1Apr 18, 2025
Cutis laxa, autosomal recessive, type 1B5Apr 21, 2023
Cyclical neutropenia2Apr 18, 2025
Cystic fibrosis3Apr 18, 2025
DK1-congenital disorder of glycosylation1Apr 18, 2023
DNA ligase IV deficiency8Apr 18, 2025
DOORS syndrome3Apr 18, 2025
DYRK1A-related intellectual disability syndrome1Apr 21, 2023
Danon disease1Apr 18, 2023
Deafness-lymphedema-leukemia syndrome2Apr 18, 2025
Deficiency of guanidinoacetate methyltransferase5Apr 21, 2023
Dengue virus, susceptibility to2Apr 18, 2025
Desmoid disease, hereditary3Apr 18, 2025
Developmental and epileptic encephalopathy 1012Apr 18, 2025
Developmental and epileptic encephalopathy 6B7Apr 18, 2025
Developmental and epileptic encephalopathy 944Apr 21, 2023
Developmental and epileptic encephalopathy 992Apr 18, 2023
Developmental and epileptic encephalopathy, 11Apr 18, 2023
Developmental and epileptic encephalopathy, 1115Apr 18, 2025
Developmental and epileptic encephalopathy, 124May 2, 2023
Developmental and epileptic encephalopathy, 136Apr 18, 2025
Developmental and epileptic encephalopathy, 1410Apr 18, 2025
Developmental and epileptic encephalopathy, 153Apr 18, 2025
Developmental and epileptic encephalopathy, 163Apr 18, 2025
Developmental and epileptic encephalopathy, 171Apr 18, 2025
Developmental and epileptic encephalopathy, 185Apr 18, 2023
Developmental and epileptic encephalopathy, 191Apr 18, 2025
Developmental and epileptic encephalopathy, 21May 2, 2023
Developmental and epileptic encephalopathy, 233Apr 18, 2023
Developmental and epileptic encephalopathy, 245Apr 18, 2025
Developmental and epileptic encephalopathy, 251Apr 21, 2023
Developmental and epileptic encephalopathy, 262Apr 21, 2023
Developmental and epileptic encephalopathy, 273Apr 18, 2025
Developmental and epileptic encephalopathy, 281Apr 18, 2025
Developmental and epileptic encephalopathy, 33Apr 18, 2023
Developmental and epileptic encephalopathy, 303Apr 18, 2023
Developmental and epileptic encephalopathy, 31A1Apr 21, 2023
Developmental and epileptic encephalopathy, 333Apr 18, 2025
Developmental and epileptic encephalopathy, 341Apr 18, 2025
Developmental and epileptic encephalopathy, 361Apr 21, 2023
Developmental and epileptic encephalopathy, 371Apr 21, 2023
Developmental and epileptic encephalopathy, 391Apr 21, 2023
Developmental and epileptic encephalopathy, 427Apr 18, 2025
Developmental and epileptic encephalopathy, 433Apr 18, 2025
Developmental and epileptic encephalopathy, 462May 2, 2023
Developmental and epileptic encephalopathy, 58Apr 21, 2023
Developmental and epileptic encephalopathy, 522Apr 18, 2025
Developmental and epileptic encephalopathy, 543May 2, 2023
Developmental and epileptic encephalopathy, 623Apr 18, 2025
Developmental and epileptic encephalopathy, 672Apr 18, 2023
Developmental and epileptic encephalopathy, 74Apr 18, 2025
Developmental and epileptic encephalopathy, 742Apr 18, 2025
Developmental and epileptic encephalopathy, 774Apr 21, 2023
Developmental and epileptic encephalopathy, 81May 2, 2023
Developmental and epileptic encephalopathy, 93Apr 21, 2023
DiGeorge syndrome3Apr 18, 2025
Diabetes mellitus type 11Dec 29, 2020
Diamond-Blackfan anemia 111Apr 18, 2023
Diamond-Blackfan anemia 121Apr 21, 2023
Diamond-Blackfan anemia 31Apr 18, 2023
Diamond-Blackfan anemia 61Mar 29, 2022
Diaphyseal dysplasia1Apr 18, 2025
Dias-Logan syndrome3Apr 21, 2023
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1May 29, 2025
Dilated cardiomyopathy 1A2Apr 18, 2025
Dilated cardiomyopathy 1AA3Apr 18, 2025
Dilated cardiomyopathy 1BB3Apr 18, 2025
Dilated cardiomyopathy 1C1Apr 18, 2025
Dilated cardiomyopathy 1CC1Apr 18, 2025
Dilated cardiomyopathy 1D1Apr 18, 2025
Dilated cardiomyopathy 1DD6Apr 18, 2023
Dilated cardiomyopathy 1E15Apr 18, 2025
Dilated cardiomyopathy 1EE3Apr 18, 2025
Dilated cardiomyopathy 1FF2Apr 18, 2025
Dilated cardiomyopathy 1G2Apr 18, 2025
Dilated cardiomyopathy 1HH2Apr 18, 2025
Dilated cardiomyopathy 1J2Apr 18, 2025
Dilated cardiomyopathy 1JJ3May 2, 2023
Dilated cardiomyopathy 1KK4Apr 18, 2025
Dilated cardiomyopathy 1L1Apr 18, 2025
Dilated cardiomyopathy 1M1Apr 18, 2025
Dilated cardiomyopathy 1NN4Apr 18, 2025
Dilated cardiomyopathy 1O1Apr 18, 2025
Dilated cardiomyopathy 1S2Apr 18, 2025
Dilated cardiomyopathy 1W4Apr 18, 2025
Dilated cardiomyopathy 1X1Apr 18, 2025
Dilated cardiomyopathy 1Y2Apr 18, 2025
Dilated cardiomyopathy 2A2Apr 18, 2025
Dilated cardiomyopathy 2B1Apr 18, 2023
Dilated cardiomyopathy 3B4Apr 18, 2025
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2Apr 18, 2025
Distal myopathy with posterior leg and anterior hand involvement8Apr 18, 2025
Duchenne muscular dystrophy4Apr 18, 2025
Dyskeratosis congenita, autosomal dominant 26Apr 18, 2025
Dyskeratosis congenita, autosomal dominant 32Apr 18, 2025
Dyskeratosis congenita, autosomal recessive 35Apr 21, 2023
Dyskeratosis congenita, autosomal recessive 58Apr 18, 2025
Dyskeratosis congenita, autosomal recessive 63Apr 18, 2025
Dystonia 124Apr 18, 2023
Dystonia 271Apr 18, 2025
Dystonia 95Apr 18, 2025
EAST syndrome3Apr 18, 2025
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 22Dec 12, 2018
Early-onset myopathy with fatal cardiomyopathy2Apr 18, 2025
Ectodermal dysplasia and immunodeficiency 14Apr 18, 2025
Ectodermal dysplasia and immunodeficiency 21Apr 21, 2023
Ectopia lentis 1, isolated, autosomal dominant36Apr 18, 2025
Ectopia lentis 2, isolated, autosomal recessive15Apr 18, 2025
Ectopia lentis et pupillae15Apr 18, 2025
Eculizumab, poor response to1Apr 18, 2025
Ehlers-Danlos syndrome due to tenascin-X deficiency19May 29, 2025
Ehlers-Danlos syndrome progeroid type1Dec 12, 2018
Ehlers-Danlos syndrome, arthrochalasia type3Apr 18, 2025
Ehlers-Danlos syndrome, cardiac valvular type1Apr 18, 2025
Ehlers-Danlos syndrome, classic type21May 10, 2024
Ehlers-Danlos syndrome, classic type, 119Apr 18, 2025
Ehlers-Danlos syndrome, classic type, 211May 2, 2023
Ehlers-Danlos syndrome, dermatosparaxis type3Apr 21, 2023
Ehlers-Danlos syndrome, kyphoscoliotic type 18Apr 21, 2023
Ehlers-Danlos syndrome, periodontal type 13Apr 21, 2023
Ehlers-Danlos syndrome, periodontal type 24Apr 18, 2025
Ehlers-Danlos syndrome, spondylocheirodysplastic type1Apr 26, 2023
Ehlers-Danlos syndrome, spondylodysplastic type, 11Apr 18, 2023
Ehlers-Danlos syndrome, spondylodysplastic type, 21Apr 18, 2025
Ehlers-Danlos syndrome, type 420Apr 18, 2025
Eichsfeld type congenital muscular dystrophy1Apr 18, 2025
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2Apr 18, 2025
Emery-Dreifuss muscular dystrophy 3, autosomal recessive2Apr 18, 2025
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Apr 18, 2025
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1Apr 18, 2025
Encephalopathy due to GLUT1 deficiency5Apr 18, 2025
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81Apr 18, 2023
Endometrial carcinoma1Apr 18, 2025
Epidermal nevus1Apr 18, 2025
Epidermodysplasia verruciformis, susceptibility to, 112Apr 21, 2023
Epidermodysplasia verruciformis, susceptibility to, 27Apr 18, 2023
Epidermolytic hyperkeratosis 11Apr 18, 2025
Epilepsy with myoclonic atonic seizures1Apr 21, 2023
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1Apr 18, 2023
Epilepsy, childhood absence, susceptibility to, 53Apr 18, 2025
Epilepsy, childhood absence, susceptibility to, 61Apr 18, 2025
Epilepsy, familial adult myoclonic, 54Apr 21, 2023
Epilepsy, familial focal, with variable foci 12Apr 21, 2023
Epilepsy, familial focal, with variable foci 31Apr 21, 2023
Epilepsy, familial focal, with variable foci 43Apr 18, 2025
Epilepsy, idiopathic generalized, susceptibility to, 102Apr 18, 2025
Epilepsy, idiopathic generalized, susceptibility to, 125Apr 18, 2025
Epilepsy, idiopathic generalized, susceptibility to, 131Apr 18, 2025
Epilepsy, idiopathic generalized, susceptibility to, 141Apr 18, 2025
Epilepsy, idiopathic generalized, susceptibility to, 163Apr 18, 2025
Epilepsy, idiopathic generalized, susceptibility to, 182Apr 18, 2025
Epilepsy, juvenile absence, susceptibility to, 11Apr 18, 2025
Epilepsy, progressive myoclonic, 1B3Apr 21, 2023
Episodic ataxia type 27Apr 18, 2025
Episodic ataxia, type 910Apr 18, 2025
Episodic kinesigenic dyskinesia 13Apr 18, 2025
Euthyroid goiter1Apr 18, 2025
FG syndrome 11Apr 18, 2025
FG syndrome 210Apr 18, 2025
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome9Apr 18, 2025
Facioscapulohumeral muscular dystrophy 4, digenic3Apr 18, 2025
Factor H deficiency3Apr 18, 2025
Factor I deficiency2Apr 18, 2025
Familial Mediterranean fever36Apr 18, 2025
Familial Mediterranean fever, autosomal dominant36Apr 18, 2025
Familial adenomatous polyposis 13Apr 18, 2025
Familial amyloid nephropathy with urticaria AND deafness13Apr 18, 2025
Familial cancer of breast22Apr 18, 2025
Familial chronic mucocutaneous candidiasis2Apr 18, 2025
Familial cold autoinflammatory syndrome 113Apr 18, 2025
Familial cold autoinflammatory syndrome 26Apr 21, 2023
Familial cold autoinflammatory syndrome 37Apr 18, 2025
Familial cold autoinflammatory syndrome 44Apr 18, 2025
Familial hemophagocytic lymphohistiocytosis 22Apr 18, 2025
Familial hemophagocytic lymphohistiocytosis 37Apr 21, 2023
Familial hemophagocytic lymphohistiocytosis 52Apr 21, 2023
Familial infantile myoclonic epilepsy3Apr 18, 2025
Familial isolated congenital asplenia1Apr 21, 2023
Familial pancreatic carcinoma1Apr 18, 2025
Familial partial lipodystrophy, Dunnigan type2Apr 18, 2025
Familial porphyria cutanea tarda2Apr 18, 2025
Familial prostate cancer4Apr 18, 2025
Familial temporal lobe epilepsy 53Apr 18, 2025
Familial temporal lobe epilepsy 76Apr 18, 2025
Fanconi anemia complementation group A7May 2, 2023
Fanconi anemia complementation group B1Mar 29, 2022
Fanconi anemia complementation group C2Mar 29, 2022
Fanconi anemia complementation group D11Apr 18, 2025
Fanconi anemia complementation group D24Apr 21, 2023
Fanconi anemia complementation group E1Apr 18, 2023
Fanconi anemia complementation group F2Apr 21, 2023
Fanconi anemia complementation group I6Apr 21, 2023
Fanconi anemia complementation group L5May 2, 2023
Fanconi anemia complementation group N1Apr 18, 2025
Fanconi anemia complementation group O2Apr 18, 2025
Fanconi anemia complementation group P7May 3, 2023
Fanconi anemia complementation group Q3Apr 18, 2025
Fanconi renotubular syndrome 11Apr 18, 2025
Febrile seizures, familial, 113Apr 18, 2025
Febrile seizures, familial, 84Apr 18, 2025
Fibromatosis, gingival, 17Apr 18, 2025
Fibromuscular dysplasia, multifocal12Apr 18, 2025
Fibrous dysplasia of jaw5Apr 21, 2023
Frontometaphyseal dysplasia 110Apr 18, 2025
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Apr 18, 2023
GM3 synthase deficiency1Apr 18, 2023
Gastric adenocarcinoma and proximal polyposis of the stomach3Apr 18, 2025
Gastric cancer9Apr 18, 2025
Gastrointestinal defects and immunodeficiency syndrome 17Apr 18, 2023
Gastrointestinal stromal tumor1Apr 18, 2025
Geleophysic dysplasia 236Apr 18, 2025
Generalized epilepsy with febrile seizures plus, type 12Apr 18, 2025
Generalized epilepsy with febrile seizures plus, type 104Apr 18, 2025
Generalized epilepsy with febrile seizures plus, type 212Apr 18, 2025
Generalized epilepsy with febrile seizures plus, type 73Dec 12, 2018
Generalized epilepsy-paroxysmal dyskinesia syndrome4Apr 18, 2025
Generalized juvenile polyposis/juvenile polyposis coli1Dec 12, 2018
Genitopatellar syndrome4Apr 18, 2025
Germ cell tumor of testis1Apr 18, 2025
Ghosal hematodiaphyseal dysplasia2Dec 12, 2018
Glaucoma 3, primary congenital, D18Apr 18, 2025
Glioma susceptibility 31Apr 18, 2025
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1Apr 18, 2025
Glucocorticoid deficiency 53May 2, 2023
Glucose-6-phosphate transport defect6Apr 18, 2025
Glutaric aciduria, type 12Apr 18, 2023
Glycine encephalopathy4Nov 20, 2023
Glycine encephalopathy 11Mar 8, 2024
Glycine encephalopathy 21Mar 8, 2024
Glycogen storage disease IXa11Apr 21, 2023
Glycogen storage disease type III1Apr 18, 2025
Glycogen storage disease, type II1Apr 18, 2023
Graft-versus-host disease, susceptibility to1Apr 18, 2025
Granulocytopenia with immunoglobulin abnormality1Mar 29, 2022
Granulomatous disease, chronic, X-linked1Apr 18, 2025
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2Apr 21, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11Apr 21, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 22Apr 21, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31Apr 18, 2023
Griscelli syndrome type 12Apr 18, 2023
Griscelli syndrome type 22Apr 21, 2023
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant4Apr 18, 2025
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive6Apr 18, 2025
H syndrome3Apr 21, 2023
Haim-Munk syndrome1Apr 18, 2025
Hashimoto thyroiditis2Apr 18, 2025
Hearing loss, autosomal dominant 34, with or without inflammation6Apr 18, 2025
Heart-hand syndrome, Slovenian type2Apr 18, 2025
Helicobacter pylori infection, susceptibility to3Apr 18, 2025
Hemochromatosis type 12Apr 18, 2025
Hemolytic uremic syndrome, atypical, susceptibility to, 13Apr 18, 2025
Hemophagocytic lymphohistiocytosis, familial, 61Apr 18, 2023
Hennekam lymphangiectasia-lymphedema syndrome 12Apr 21, 2023
Hennekam lymphangiectasia-lymphedema syndrome 25Apr 18, 2025
Hepatic veno-occlusive disease-immunodeficiency syndrome6Apr 18, 2025
Hepatitis B virus, susceptibility to6Apr 18, 2025
Hepatitis C virus, susceptibility to2Apr 18, 2025
Hepatocellular carcinoma4Apr 18, 2025
Hereditary angioedema type 13Apr 18, 2025
Hereditary cryohydrocytosis with reduced stomatin5Apr 18, 2025
Hereditary neutrophilia3Apr 18, 2025
Hereditary spastic paraplegia 771Apr 18, 2025
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12Apr 18, 2025
Hermansky-Pudlak syndrome 102Mar 29, 2022
Hermansky-Pudlak syndrome 28Apr 21, 2023
Hermansky-Pudlak syndrome 91Apr 18, 2023
Herpes simplex encephalitis, susceptibility to, 12Apr 18, 2023
Herpes simplex encephalitis, susceptibility to, 31Mar 29, 2022
Herpes simplex encephalitis, susceptibility to, 42Apr 21, 2023
Heterotopia, periventricular, X-linked dominant10Apr 18, 2025
Histiocytic medullary reticulosis13Apr 18, 2025
Holt-Oram syndrome1Apr 18, 2023
Hutchinson-Gilford syndrome2Apr 18, 2025
Hyper-IgE recurrent infection syndrome 1, autosomal dominant3Apr 18, 2025
Hyper-IgE recurrent infection syndrome 3, autosomal recessive3Apr 21, 2023
Hyper-IgM syndrome type 21Mar 29, 2022
Hyper-IgM syndrome type 31Apr 21, 2023
Hyperaldosteronism, familial, type IV1Apr 18, 2025
Hypercholesterolemia, familial, 11Apr 21, 2023
Hyperekplexia 11Apr 18, 2023
Hyperimmunoglobulin D with periodic fever2Apr 18, 2025
Hyperinsulinism due to glucokinase deficiency2Apr 18, 2025
Hyperphosphatasia with intellectual disability syndrome 15Apr 21, 2023
Hyperphosphatasia with intellectual disability syndrome 23Apr 21, 2023
Hypertrichotic osteochondrodysplasia Cantu type1Apr 18, 2025
Hypertrophic cardiomyopathy1Apr 26, 2023
Hypertrophic cardiomyopathy 13Apr 18, 2025
Hypertrophic cardiomyopathy 121Apr 18, 2025
Hypertrophic cardiomyopathy 143Apr 18, 2025
Hypertrophic cardiomyopathy 154Apr 18, 2025
Hypertrophic cardiomyopathy 161Apr 18, 2023
Hypertrophic cardiomyopathy 176Apr 18, 2025
Hypertrophic cardiomyopathy 21Apr 18, 2025
Hypertrophic cardiomyopathy 201Apr 18, 2025
Hypertrophic cardiomyopathy 251Apr 18, 2025
Hypertrophic cardiomyopathy 268Apr 18, 2025
Hypertrophic cardiomyopathy 32Apr 18, 2025
Hypertrophic cardiomyopathy 46Apr 18, 2025
Hypertrophic cardiomyopathy 63Apr 18, 2025
Hypertrophic cardiomyopathy 72Apr 18, 2025
Hypertrophic cardiomyopathy 82Apr 21, 2023
Hypertrophic cardiomyopathy 92Apr 18, 2025
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1Nov 30, 2023
Hypochondroplasia1Nov 30, 2023
Hypogonadotropic hypogonadism 16 with or without anosmia2May 2, 2023
Hypogonadotropic hypogonadism 5 with or without anosmia9Apr 18, 2025
Hypopigmentation, organomegaly, and delayed myelination and development1Apr 18, 2023
Hypoplastic left heart syndrome 21Apr 18, 2025
Hypothyroidism, congenital, nongoitrous, 51Apr 18, 2025
Hypotonia, infantile, with psychomotor retardation and characteristic facies 12Apr 18, 2025
Ichthyosis hystrix gravior1Apr 18, 2025
Ichthyosis, annular epidermolytic 11Apr 18, 2025
Ichthyosis, hystrix-like, with hearing loss6Apr 18, 2025
Idiopathic CD4 lymphocytopenia1Apr 21, 2023
IgE responsiveness, atopic6Apr 18, 2025
Immunodeficiency2Apr 26, 2023
Immunodeficiency 10411Apr 18, 2025
Immunodeficiency 1056Apr 18, 2023
Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection1Apr 18, 2025
Immunodeficiency 11b with atopic dermatitis4Apr 18, 2025
Immunodeficiency 142Apr 18, 2025
Immunodeficiency 14b, autosomal recessive1Apr 18, 2025
Immunodeficiency 15a1Apr 18, 2025
Immunodeficiency 182Apr 18, 2025
Immunodeficiency 191Apr 18, 2023
Immunodeficiency 235Apr 21, 2023
Immunodeficiency 252Apr 21, 2023
Immunodeficiency 27A5Apr 18, 2025
Immunodeficiency 281Apr 21, 2023
Immunodeficiency 31B3Apr 18, 2025
Immunodeficiency 32B1Apr 18, 2025
Immunodeficiency 334Apr 18, 2025
Immunodeficiency 355Apr 21, 2023
Immunodeficiency 362Apr 18, 2025
Immunodeficiency 392Mar 29, 2022
Immunodeficiency 451Apr 18, 2025
Immunodeficiency 492Apr 18, 2025
Immunodeficiency 515Apr 21, 2023
Immunodeficiency 602Apr 18, 2023
Immunodeficiency 642Apr 18, 2023
Immunodeficiency 662Mar 29, 2022
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia1Apr 18, 2025
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia1Apr 18, 2025
Immunodeficiency 78 with autoimmunity and developmental delay3Apr 18, 2023
Immunodeficiency 791Apr 18, 2025
Immunodeficiency 83, susceptibility to viral infections1Apr 18, 2025
Immunodeficiency 886Apr 18, 2025
Immunodeficiency 9513Apr 18, 2025
Immunodeficiency due to CD25 deficiency1Apr 18, 2025
Immunodeficiency due to MASP-2 deficiency5Apr 21, 2023
Immunodeficiency due to ficolin3 deficiency1Apr 18, 2023
Immunodeficiency, common variable, 11Apr 18, 2023
Immunodeficiency, common variable, 103Apr 21, 2023
Immunodeficiency, common variable, 121Mar 29, 2022
Immunodeficiency, common variable, 142Apr 18, 2023
Immunodeficiency, common variable, 27Apr 18, 2025
Immunodeficiency, common variable, 32Apr 21, 2023
Immunodeficiency, common variable, 41Apr 18, 2023
Immunodeficiency, common variable, 51Apr 21, 2023
Immunodeficiency, common variable, 62Apr 21, 2023
Immunodeficiency, common variable, 711Apr 18, 2025
Immunodeficiency-centromeric instability-facial anomalies syndrome 16Apr 18, 2025
Immunodeficiency-centromeric instability-facial anomalies syndrome 23Apr 21, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 42Apr 18, 2023
Immunoglobulin A deficiency 27Apr 18, 2025
Immunoskeletal dysplasia with neurodevelopmental abnormalities1Apr 18, 2023
Incontinentia pigmenti syndrome4Apr 18, 2025
Infantile convulsions and choreoathetosis3Apr 18, 2025
Infantile cortical hyperostosis2Apr 18, 2025
Infantile nephronophthisis1Apr 18, 2023
Inflammatory bowel disease 115Apr 18, 2025
Inflammatory bowel disease 253Apr 18, 2025
Inflammatory bowel disease 282Apr 18, 2023
Inflammatory bowel disease, immunodeficiency, and encephalopathy1Apr 18, 2025
Inflammatory skin and bowel disease, neonatal, 12May 2, 2023
Insulin-dependent diabetes mellitus secretory diarrhea syndrome4Apr 21, 2023
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities2Apr 18, 2025
Intellectual developmental disorder, autosomal dominant 706Apr 18, 2025
Intellectual disability and myopathy syndrome1Apr 18, 2025
Intellectual disability, X-linked 1021Apr 18, 2023
Intellectual disability, X-linked 491Apr 21, 2023
Intellectual disability, X-linked 501Apr 18, 2023
Intellectual disability, X-linked, with or without seizures, ARX-related1Apr 18, 2023
Intellectual disability, autosomal dominant 15Apr 26, 2023
Intellectual disability, autosomal dominant 1315Apr 18, 2025
Intellectual disability, autosomal dominant 383Apr 18, 2025
Intellectual disability, autosomal dominant 411Apr 18, 2025
Intellectual disability, autosomal dominant 421Apr 18, 2025
Intellectual disability, autosomal dominant 63Apr 18, 2025
Intellectual disability, autosomal dominant 84Apr 18, 2025
Intellectual disability, autosomal recessive 123Apr 18, 2025
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Apr 18, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 14Apr 18, 2025
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked10Apr 18, 2025
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency6Apr 18, 2025
Isolated focal cortical dysplasia type II36Apr 18, 2025
Jervell and Lange-Nielsen syndrome 13Apr 18, 2025
Jervell and Lange-Nielsen syndrome 21Apr 18, 2025
Junctional epidermolysis bullosa gravis of Herlitz1Apr 18, 2025
Junctional epidermolysis bullosa, non-Herlitz type1Apr 18, 2025
Juvenile myelomonocytic leukemia22Apr 18, 2025
Juvenile myoclonic epilepsy1Dec 12, 2018
Juvenile polyposis syndrome1May 2, 2023
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2May 2, 2023
Kabuki syndrome 136Apr 18, 2025
Kabuki syndrome 21Apr 18, 2023
Keratitis fugax hereditaria6Apr 18, 2025
Keratosis palmoplantaris striata 210Apr 18, 2025
King Denborough syndrome2Apr 18, 2025
Kleefstra syndrome 11Apr 21, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1Apr 18, 2023
Knuckle pads, deafness AND leukonychia syndrome6Apr 18, 2025
Koolen-de Vries syndrome5Apr 21, 2023
Kostmann syndrome3Apr 21, 2023
Kufor-Rakeb syndrome7Apr 18, 2025
LEOPARD syndrome 116Apr 18, 2025
LEOPARD syndrome 25Apr 18, 2025
LEOPARD syndrome 34Apr 18, 2025
Lafora disease3Apr 21, 2023
Landau-Kleffner syndrome1Apr 18, 2023
Large congenital melanocytic nevus1Apr 18, 2025
Lazy leukocyte syndrome1Mar 29, 2022
Left ventricular noncompaction 12Apr 18, 2023
Left ventricular noncompaction 106Apr 18, 2025
Left ventricular noncompaction 84Apr 18, 2025
Leprosy, susceptibility to, 32Apr 18, 2025
Lethal acantholytic epidermolysis bullosa10Apr 18, 2025
Lethal congenital glycogen storage disease of heart3Apr 18, 2025
Leukocyte adhesion deficiency 16Apr 21, 2023
Leukocyte adhesion deficiency 35Apr 21, 2023
Leukocyte adhesion deficiency type II1Apr 21, 2023
Leukoencephalopathy with vanishing white matter 11Apr 18, 2025
Liang-Wang syndrome3Apr 18, 2025
Linear nevus sebaceous syndrome4Apr 18, 2025
Lipodystrophy, partial, acquired, susceptibility to1Apr 18, 2025
Lissencephaly due to TUBA1A mutation1Apr 18, 2023
Loeys-Dietz syndrome 14Apr 18, 2025
Loeys-Dietz syndrome 29Apr 18, 2025
Loeys-Dietz syndrome 41Apr 18, 2023
Long QT syndrome 13Apr 18, 2025
Long QT syndrome 101Apr 18, 2025
Long QT syndrome 119May 2, 2023
Long QT syndrome 122Apr 18, 2023
Long QT syndrome 151Apr 18, 2023
Long QT syndrome 212Apr 18, 2025
Long QT syndrome 315Apr 18, 2025
Long QT syndrome 51Apr 18, 2025
Long qt syndrome 87Apr 18, 2025
Lung cancer7Apr 18, 2025
Luscan-Lumish syndrome8Apr 18, 2025
Lymphangiomyomatosis36Apr 18, 2025
Lymphatic malformation 73Apr 18, 2025
Lymphoma, non-Hodgkin, familial4Apr 18, 2025
Lymphoproliferative syndrome 11Apr 21, 2023
Lynch syndrome 11Apr 18, 2025
Lynch syndrome 41Apr 18, 2025
Lynch syndrome 51Apr 18, 2025
Lysinuric protein intolerance1Apr 18, 2023
Lysosomal acid lipase deficiency1Apr 21, 2023
MASS syndrome36Apr 18, 2025
MHC class I deficiency10May 2, 2023
MHC class II deficiency7May 2, 2023
MHC class II deficiency 111Apr 18, 2025
MIRAGE syndrome4Apr 18, 2025
MOGS-congenital disorder of glycosylation4Apr 21, 2023
MYH7-related skeletal myopathy2Apr 18, 2025
MYPN-related myopathy4Apr 18, 2025
Macular degeneration, early-onset16Apr 18, 2025
Macular dystrophy with central cone involvement2Apr 18, 2025
Majeed syndrome7Apr 21, 2023
Malaria, susceptibility to6Apr 18, 2025
Malignant hyperthermia, susceptibility to, 12Apr 18, 2025
Malignant tumor of esophagus6Apr 18, 2025
Malignant tumor of urinary bladder3Apr 18, 2025
Mandibuloacral dysplasia with type A lipodystrophy2Apr 18, 2025
Maple syrup urine disease1Apr 18, 2023
Marfan syndrome58May 21, 2025
Maturity-onset diabetes of the young type 22Apr 18, 2025
Medulloblastoma1Apr 18, 2025
Meester-Loeys syndrome1Apr 18, 2025
Megacystis-microcolon-intestinal hypoperistalsis syndrome 110Apr 18, 2025
Megacystis-microcolon-intestinal hypoperistalsis syndrome 212Apr 18, 2025
Melanoma, cutaneous malignant, susceptibility to, 13Apr 18, 2025
Melanoma, cutaneous malignant, susceptibility to, 95Apr 18, 2025
Melnick-Needles syndrome10Apr 18, 2025
Melorheostosis1Apr 18, 2025
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2Apr 21, 2023
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency3Apr 18, 2023
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1Apr 21, 2023
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1Apr 18, 2025
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency3Apr 18, 2025
Metachondromatosis13Apr 18, 2025
Metaphyseal chondrodysplasia, McKusick type2Apr 18, 2025
Metaphyseal dysplasia without hypotrichosis2Apr 18, 2025
Mevalonic aciduria2Apr 18, 2025
Microcephaly 27, primary, autosomal dominant1Apr 18, 2025
Microcephaly, epilepsy, and diabetes syndrome 11Apr 18, 2023
Microcephaly, normal intelligence and immunodeficiency3Apr 18, 2025
Microcephaly, seizures, and developmental delay3Apr 18, 2025
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1Mar 29, 2022
Microspherophakia6Mar 29, 2022
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma12Apr 18, 2025
Microvascular complications of diabetes, susceptibility to, 42Apr 18, 2025
Microvascular complications of diabetes, susceptibility to, 72Apr 18, 2025
Migraine, familial hemiplegic, 17Apr 18, 2025
Migraine, familial hemiplegic, 312Apr 18, 2025
Mismatch repair cancer syndrome 14Apr 18, 2025
Mismatch repair cancer syndrome 31Apr 18, 2025
Mismatch repair cancer syndrome 41Apr 18, 2025
Mitochondrial DNA depletion syndrome 4b14Apr 18, 2025
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Apr 18, 2023
Monocytopenia with susceptibility to infections2Apr 18, 2025
Monosomy 7 myelodysplasia and leukemia syndrome 13Apr 18, 2025
Monosomy 7 myelodysplasia and leukemia syndrome 22Apr 18, 2025
Mowat-Wilson syndrome2Apr 21, 2023
Moyamoya disease 23Apr 21, 2023
Moyamoya disease 51Apr 18, 2025
Mucocutaneous ulceration, chronic3Apr 18, 2023
Muir-Torré syndrome4Apr 18, 2025
Multiple congenital anomalies-hypotonia-seizures syndrome 22Apr 18, 2025
Multiple gastrointestinal atresias5Dec 29, 2020
Multiple myeloma5Apr 18, 2025
Multiple sclerosis, susceptibility to, 51Apr 18, 2025
Multiple self-healing squamous epithelioma4Apr 18, 2025
Multisystemic smooth muscle dysfunction syndrome1Apr 18, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Apr 18, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A56Apr 18, 2025
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41Apr 18, 2025
Muscular dystrophy-dystroglycanopathy type B56Apr 18, 2025
Mutilating keratoderma6Apr 18, 2025
Mycobacterium tuberculosis, susceptibility to12Apr 18, 2025
Myelodysplastic syndrome4Apr 18, 2025
Myhre syndrome2May 2, 2023
Myoclonic epilepsy, juvenile, susceptibility to, 11Apr 18, 2025
Myoclonus, familial, 24Apr 18, 2025
Myofibrillar myopathy 41Apr 18, 2025
Myofibrillar myopathy 58Apr 18, 2025
Myofibrillar myopathy 62Apr 18, 2025
Myopathy, congenital, with structured cores and z-line abnormalities3Apr 18, 2025
Myopathy, distal, 6, adult-onset, autosomal dominant3Apr 18, 2025
Myopathy, myofibrillar, 9, with early respiratory failure2Apr 18, 2025
Myopathy, myosin storage, autosomal recessive2Apr 18, 2025
Myopathy, tubular aggregate, 16Apr 18, 2025
Myopathy, tubular aggregate, 22Apr 18, 2025
Myosin storage myopathy2Apr 18, 2025
Naxos disease3Apr 18, 2025
Neonatal-onset encephalopathy with rigidity and seizures2Apr 18, 2025
Neoplasm of stomach1Dec 12, 2018
Nephrotic syndrome 152Apr 21, 2023
Netherton syndrome7May 2, 2023
Neural tube defects, folate-sensitive1Apr 18, 2025
Neuroblastoma, susceptibility to, 24Apr 18, 2025
Neurodegeneration with brain iron accumulation 51Apr 21, 2023
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2Apr 18, 2025
Neurodevelopmental disorder with epilepsy and hemochromatosis1Apr 18, 2025
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures7Apr 18, 2025
Neurodevelopmental disorder with involuntary movements1Apr 18, 2025
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive2Apr 18, 2025
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Nov 30, 2023
Neurofibromatosis, familial spinal14Apr 18, 2025
Neurofibromatosis, type 116Apr 18, 2025
Neurofibromatosis-Noonan syndrome14Apr 18, 2025
Neuromuscular disease and ocular or auditory anomalies with or without seizures1Mar 24, 2023
Neuronal ceroid lipofuscinosis 101May 3, 2023
Neuronal ceroid lipofuscinosis 132Apr 18, 2023
Neuronal ceroid lipofuscinosis 26Apr 18, 2025
Neuronal ceroid lipofuscinosis 72Apr 18, 2025
Neuronal ceroid lipofuscinosis 83Apr 18, 2025
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant3Apr 18, 2025
Neuropathy, hereditary motor and sensory, type 6A1Apr 18, 2025
Neutropenia, severe congenital, 1, autosomal dominant2Apr 18, 2025
Neutropenia, severe congenital, 2, autosomal dominant3Apr 18, 2025
Neutrophil immunodeficiency syndrome1Apr 18, 2025
Nicolaides-Baraitser syndrome1Apr 18, 2025
Nonimmune chronic idiopathic neutropenia of adults3Apr 18, 2025
Noonan syndrome 116Apr 18, 2025
Noonan syndrome 34Apr 18, 2025
Noonan syndrome 48Apr 18, 2025
Noonan syndrome 55Apr 18, 2025
Noonan syndrome 61Sep 22, 2017
Noonan syndrome 74Apr 18, 2025
Noonan syndrome 81Apr 21, 2023
Noonan syndrome 92Apr 18, 2023
Norman-Roberts syndrome6Apr 18, 2025
Normophosphatemic familial tumoral calcinosis4Apr 18, 2025
Okt4 epitope deficiency2Apr 18, 2025
Optic atrophy 121Apr 18, 2025
Ornithine carbamoyltransferase deficiency1May 2, 2023
Osteogenesis imperfecta type I2Apr 18, 2025
Osteogenesis imperfecta type III3Apr 18, 2025
Osteogenesis imperfecta with normal sclerae, dominant form3Apr 18, 2025
Osteogenesis imperfecta, perinatal lethal3Apr 18, 2025
Osteoporosis3Apr 18, 2025
Oto-palato-digital syndrome, type I10Apr 18, 2025
Oto-palato-digital syndrome, type II10Apr 18, 2025
PMM2-congenital disorder of glycosylation3Apr 18, 2023
Palmoplantar keratoderma-deafness syndrome6Apr 18, 2025
Pancreatic cancer, susceptibility to, 21Apr 18, 2025
Pancreatic cancer, susceptibility to, 32Apr 18, 2025
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2Apr 18, 2025
Pancytopenia-developmental delay syndrome2Apr 21, 2023
Papillon-Lefèvre syndrome1Apr 18, 2025
Paroxysmal extreme pain disorder7Apr 18, 2025
Paroxysmal nocturnal hemoglobinuria 11Apr 18, 2025
Paroxysmal nonkinesigenic dyskinesia 12May 2, 2023
Partington syndrome1Apr 18, 2023
Periodic fever-infantile enterocolitis-autoinflammatory syndrome4Apr 18, 2025
Periodontitis, aggressive 11Apr 18, 2025
Periventricular nodular heterotopia 72May 2, 2023
Permanent neonatal diabetes mellitus 12Apr 18, 2025
Phenylketonuria3Apr 18, 2025
Phosphate transport defect6Apr 18, 2025
Piebaldism1Apr 18, 2025
Pierpont syndrome1Apr 18, 2025
Pitt-Hopkins syndrome2Apr 18, 2025
Pitt-Hopkins-like syndrome 28Apr 18, 2025
Pityriasis rubra pilaris4Apr 18, 2025
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease2Apr 18, 2023
Pleuropulmonary blastoma1Apr 18, 2025
Poikiloderma with neutropenia1Apr 21, 2023
Polycystic kidney disease 21Apr 18, 2023
Polyglandular autoimmune syndrome, type 12Apr 18, 2023
Polyglucosan body myopathy type 12Apr 21, 2023
Polyhydramnios, megalencephaly, and symptomatic epilepsy1Apr 18, 2023
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome10Apr 18, 2025
Porokeratosis 3, disseminated superficial actinic type2Apr 18, 2025
Predisposition to invasive fungal disease due to CARD9 deficiency6May 2, 2023
Premature ovarian failure 153Apr 18, 2025
Primary ciliary dyskinesia 73Apr 21, 2023
Primary erythromelalgia7Apr 18, 2025
Primary immunodeficiency syndrome due to p14 deficiency1Apr 21, 2023
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency4Apr 21, 2023
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection2Apr 18, 2025
Progeroid and marfanoid aspect-lipodystrophy syndrome36Apr 18, 2025
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 114Apr 18, 2025
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 114Apr 18, 2025
Progressive familial heart block, type 1A15Apr 18, 2025
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1Apr 18, 2025
Progressive myoclonic epilepsy type 61Mar 29, 2022
Progressive myoclonic epilepsy type 71Apr 18, 2023
Progressive myoclonic epilepsy type 91Apr 18, 2025
Progressive sclerosing poliodystrophy14Apr 18, 2025
Properdin deficiency, X-linked1Apr 18, 2023
Propionic acidemia1Apr 18, 2023
Prostate cancer, hereditary, 21Apr 18, 2025
Proteasome-associated autoinflammatory syndrome 12Apr 18, 2023
Protein-losing enteropathy1Apr 18, 2025
Proximal myopathy with extrapyramidal signs1Apr 21, 2023
Pseudo-TORCH syndrome 31Apr 18, 2025
Psoriasis 13, susceptibility to3Apr 18, 2025
Psoriasis 24Apr 18, 2025
Psoriatic arthritis, susceptibility to7Apr 18, 2025
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 16Apr 18, 2025
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 38Apr 18, 2025
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 43Apr 18, 2025
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 51Apr 21, 2023
Purine-nucleoside phosphorylase deficiency1Apr 21, 2023
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome3Apr 21, 2023
Pyridoxal phosphate-responsive seizures2Apr 21, 2023
Pyridoxine-dependent epilepsy2Apr 21, 2023
RIDDLE syndrome2Apr 21, 2023
Rabin-Pappas syndrome6Apr 18, 2025
Radial aplasia-thrombocytopenia syndrome2Apr 21, 2023
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11Mar 29, 2022
Rapadilino syndrome5Apr 18, 2025
Recurrent Neisseria infections due to factor D deficiency1Apr 21, 2023
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Apr 18, 2023
Restrictive dermopathy 22Apr 18, 2025
Retinitis pigmentosa 392Apr 18, 2025
Retinitis pigmentosa and erythrocytic microcytosis2Apr 18, 2025
Rett syndrome13Apr 18, 2025
Rett syndrome, congenital variant2Apr 18, 2023
Revesz syndrome2Apr 18, 2025
Rhabdoid tumor predisposition syndrome 21Jun 5, 2024
Rhabdomyolysis, susceptibility to, 11May 2, 2023
Rhabdomyosarcoma, embryonal, 21Apr 18, 2025
Rheumatoid arthritis10Apr 18, 2025
Rienhoff syndrome5Apr 18, 2025
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1Apr 18, 2025
Rothmund-Thomson syndrome type 25Apr 18, 2025
SHORT syndrome2Apr 18, 2025
STAT3-related early-onset multisystem autoimmune disease3Apr 18, 2025
STING-associated vasculopathy with onset in infancy1Dec 22, 2023
SUDDEN INFANT DEATH SYNDROME15Apr 18, 2025
Schimke immuno-osseous dysplasia5May 2, 2023
Schuurs-Hoeijmakers syndrome2Apr 18, 2023
Seizures, benign familial infantile, 23Apr 18, 2025
Seizures, benign familial infantile, 315Apr 18, 2025
Seizures, benign familial infantile, 56Apr 18, 2025
Seizures, benign familial neonatal, 14Apr 18, 2025
Seizures, benign familial neonatal, 21Apr 21, 2023
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis14Apr 18, 2025
Severe combined immunodeficiency due to CARD11 deficiency4Apr 18, 2025
Severe combined immunodeficiency due to CARMIL2 deficiency3Apr 18, 2023
Severe combined immunodeficiency due to CORO1A deficiency2Apr 21, 2023
Severe combined immunodeficiency due to CTPS1 deficiency1May 2, 2023
Severe combined immunodeficiency due to DCLRE1C deficiency6Apr 18, 2025
Severe combined immunodeficiency due to DNA-PKcs deficiency9Apr 21, 2023
Severe combined immunodeficiency due to IKK2 deficiency1Apr 18, 2025
Severe combined immunodeficiency due to LCK deficiency2Apr 21, 2023
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency2Apr 21, 2023
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive7Apr 18, 2025
Severe myoclonic epilepsy in infancy15Apr 18, 2025
Severe neonatal-onset encephalopathy with microcephaly13Apr 18, 2025
Short QT syndrome type 112Apr 18, 2025
Short QT syndrome type 23Apr 18, 2025
Short stature with nonspecific skeletal abnormalities 11Apr 18, 2025
Shprintzen-Goldberg syndrome5Apr 21, 2023
Shwachman-Diamond syndrome 15Apr 18, 2025
Sick sinus syndrome 115Apr 18, 2025
Sick sinus syndrome 2, autosomal dominant2Apr 18, 2025
Sick sinus syndrome 3, susceptibility to3Apr 18, 2025
Singleton-Merten syndrome 126Apr 18, 2025
Sneddon syndrome1Apr 18, 2023
Spastic ataxia 51Apr 18, 2025
Spermatogenic failure 283Apr 18, 2025
Spinocerebellar ataxia 493Apr 18, 2025
Spinocerebellar ataxia type 281Apr 18, 2025
Spinocerebellar ataxia type 67Apr 18, 2025
Spondyloenchondrodysplasia with immune dysregulation1Apr 21, 2023
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1Apr 18, 2025
Sterile multifocal osteomyelitis with periostitis and pustulosis3Apr 18, 2025
Stiff skin syndrome36Apr 18, 2025
Stormorken syndrome6Apr 18, 2025
Succinate-semialdehyde dehydrogenase deficiency1Apr 21, 2023
Surfactant metabolism dysfunction, pulmonary, 53Apr 18, 2023
Susceptibility to HIV infection14Apr 18, 2025
Susceptibility to respiratory infections associated with CD8alpha chain mutation3May 2, 2023
Symmetrical dyschromatosis of extremities2Apr 18, 2025
Syndromic X-linked intellectual disability Hedera type2Apr 18, 2025
Syndromic X-linked intellectual disability Lubs type13Apr 18, 2025
Syndromic multisystem autoimmune disease due to ITCH deficiency3May 2, 2023
Systemic lupus erythematosus4Apr 18, 2025
Systemic lupus erythematosus, susceptibility to, 910Apr 18, 2025
T-B+ severe combined immunodeficiency due to JAK3 deficiency3May 2, 2023
T-cell immunodeficiency, congenital alopecia, and nail dystrophy6Apr 18, 2025
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant4Apr 18, 2025
TFRC-related combined immunodeficiency1Mar 29, 2022
TNF receptor-associated periodic fever syndrome (TRAPS)2Apr 18, 2025
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 22Apr 18, 2025
Tall stature-scoliosis-macrodactyly of the great toes syndrome1Apr 18, 2025
Tay-Sachs disease1Apr 21, 2023
Telangiectasia, hereditary hemorrhagic, type 11Apr 21, 2023
Telangiectasia, hereditary hemorrhagic, type 21Apr 21, 2023
Temple-Baraitser syndrome1Apr 18, 2025
Temtamy syndrome1Apr 18, 2023
Terminal osseous dysplasia-pigmentary defects syndrome10Apr 18, 2025
Testicular anomalies with or without congenital heart disease1Apr 18, 2025
Tetralogy of Fallot7Apr 18, 2025
Thrombocytopenia 12Apr 18, 2025
Thrombocytopenia 22Apr 18, 2023
Thrombomodulin-related bleeding disorder2Apr 18, 2025
Thrombophilia due to protein C deficiency, autosomal dominant1Apr 18, 2025
Thrombophilia due to protein C deficiency, autosomal recessive1Apr 18, 2025
Thromboxane synthetase deficiency2Dec 12, 2018
Thyroid cancer, nonmedullary, 21Apr 18, 2025
Tibial muscular dystrophy2Apr 18, 2025
Timothy syndrome7Apr 18, 2025
Tobacco addiction, susceptibility to5Apr 18, 2025
Toriello-Lacassie-Droste syndrome2Apr 18, 2025
Transcobalamin II deficiency5May 2, 2023
Trichohepatoenteric syndrome 13Mar 29, 2022
Tuberous sclerosis 15Apr 18, 2025
Tuberous sclerosis 232Apr 18, 2025
Type 1 diabetes mellitus 101Apr 18, 2025
Type 1 diabetes mellitus 122Apr 18, 2025
Type 1 diabetes mellitus 222Apr 18, 2025
Type 2 diabetes mellitus2Apr 18, 2025
Type I complement component 8 deficiency1Apr 21, 2023
Type II complement component 8 deficiency4Apr 21, 2023
Ullrich congenital muscular dystrophy 1A1Apr 18, 2025
Ullrich congenital muscular dystrophy 24Apr 18, 2025
Usher syndrome type 2A2Apr 18, 2025
Van Maldergem syndrome 25Apr 18, 2025
Variegate porphyria2Apr 18, 2025
Vasculitis due to ADA2 deficiency1Apr 18, 2023
Velocardiofacial syndrome3Apr 18, 2025
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome11Apr 18, 2025
Ventricular fibrillation, paroxysmal familial, type 115Apr 18, 2025
Ventricular septal defect 11Apr 18, 2025
Ventricular septal defect 31Apr 18, 2025
Very long chain acyl-CoA dehydrogenase deficiency2May 2, 2023
Vesicoureteral reflux 818Apr 18, 2025
Vici syndrome11Apr 21, 2023
Visceral myopathy 212Apr 18, 2025
WHIM syndrome 12Apr 18, 2025
Warts, hypogammaglobulinemia, infections, and myelokathexis1Dec 12, 2018
Weill-Marchesani 4 syndrome, recessive11May 2, 2023
Weill-Marchesani syndrome 17Apr 21, 2023
Weill-Marchesani syndrome 2, dominant36Apr 18, 2025
Weill-Marchesani syndrome 324Apr 18, 2025
West Nile virus, susceptibility to2Apr 18, 2025
Wilms tumor 11Apr 18, 2025
Wilson disease2May 2, 2023
Wiskott-Aldrich syndrome2Apr 18, 2025
Wiskott-Aldrich syndrome 24Apr 18, 2023
Wolff-Parkinson-White pattern3Apr 18, 2025
X-linked Emery-Dreifuss muscular dystrophy1Apr 18, 2023
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1Apr 18, 2025
X-linked agammaglobulinemia3Apr 18, 2025
X-linked agammaglobulinemia with growth hormone deficiency3Apr 18, 2025
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia2Mar 29, 2022
X-linked intellectual disability with marfanoid habitus1Apr 18, 2025
X-linked intellectual disability, Cantagrel type4May 2, 2023
X-linked intellectual disability-psychosis-macroorchidism syndrome13Apr 18, 2025
X-linked lissencephaly with abnormal genitalia1Apr 18, 2023
X-linked parkinsonism-spasticity syndrome2Apr 18, 2025
X-linked severe combined immunodeficiency2Apr 18, 2025
X-linked severe congenital neutropenia2Apr 18, 2025
X-linked spondyloepimetaphyseal dysplasia1Apr 18, 2025
XFE progeroid syndrome3Apr 18, 2025
Xeroderma pigmentosum, group F3Apr 18, 2025
Yao syndrome15Apr 18, 2025
Zimmermann-Laband syndrome 11Apr 18, 2025
not provided106May 3, 2023