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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: 2366

Gene

GeneSubmissionsLast Updated
ABCC91Apr 18, 2023
ABCD12Apr 21, 2023
ACADVL2May 2, 2023
ACP51Apr 21, 2023
ACTA21Apr 21, 2023
ACTB1Nov 30, 2023
ACTN23Apr 18, 2023
ACVRL11Apr 21, 2023
ADA2Apr 21, 2023
ADA21Apr 18, 2023
ADAM172May 2, 2023
ADAMTS107Apr 21, 2023
ADAMTS1711May 2, 2023
ADAMTS23Apr 21, 2023
ADAMTSL415May 2, 2023
ADAMTSL4-AS28May 2, 2023
ADAR2Apr 21, 2023
ADSL4Apr 21, 2023
AFG2A1Mar 29, 2022
AFG3L21Apr 18, 2023
AGL1Apr 18, 2023
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, 2023
ANK31Apr 18, 2023
ANKRD262Apr 18, 2023
AOPEP1Mar 29, 2022
AP3B18Apr 21, 2023
AP3D12Mar 29, 2022
APC3May 2, 2023
ARFGEF1-DT3Apr 21, 2023
ARHGEF151Apr 26, 2023
ARHGEF91May 2, 2023
ARPC1B2Apr 18, 2023
ARX1Apr 18, 2023
ASNS1Apr 21, 2023
ASXL12Nov 30, 2023
ATM13Dec 4, 2023
ATP13A27Apr 21, 2023
ATP1A34Apr 18, 2023
ATP6AP22Apr 18, 2023
ATP7B2May 2, 2023
ATRX4Apr 18, 2023
B3GALT61Mar 29, 2022
B4GALT72Apr 18, 2023
BACH22Apr 18, 2023
BAG32Apr 18, 2023
BCKDHA1Apr 18, 2023
BCL11A3Apr 21, 2023
BCL11B2Apr 18, 2023
BCR3Apr 18, 2023
BGN1Mar 29, 2022
BLM4Apr 21, 2023
BLNK1Apr 18, 2023
BLOC1S61Apr 18, 2023
BRAF4Apr 21, 2023
BRAT12Apr 18, 2023
BRCA21Apr 21, 2023
BSND1Apr 18, 2023
BTK3Apr 21, 2023
C11orf654May 2, 2023
C12orf571Apr 18, 2023
C1QA1Apr 18, 2023
C1QB1Apr 21, 2023
C1QC4May 2, 2023
C1R3Apr 21, 2023
C1S4Apr 21, 2023
C24Apr 21, 2023
C2-AS11Apr 21, 2023
C34May 2, 2023
C52Apr 18, 2023
C62May 2, 2023
C72Apr 18, 2023
C8A1Apr 21, 2023
C8B4Apr 21, 2023
C8G2Apr 26, 2023
C95May 2, 2023
CACNA1A7May 2, 2023
CACNA1C7Apr 18, 2023
CACNA1C-AS12Apr 18, 2023
CACNA1H1Apr 18, 2023
CACNA2D23Apr 21, 2023
CACNB22Apr 18, 2023
CALM21Apr 18, 2023
CALR31Apr 26, 2023
CARD114Apr 21, 2023
CARD11-AS11Apr 21, 2023
CARD144Apr 21, 2023
CARD96May 2, 2023
CARMIL23Apr 18, 2023
CARS22Apr 18, 2023
CASP103Apr 18, 2023
CASP82Apr 18, 2023
CASQ21May 2, 2023
CATIP-AS21May 2, 2023
CAVIN41Apr 26, 2023
CBS3Apr 21, 2023
CCBE12Apr 21, 2023
CCR22Apr 18, 2023
CCR52Apr 18, 2023
CCR5AS2Apr 18, 2023
CD192Apr 21, 2023
CD2071Apr 21, 2023
CD2092Apr 18, 2023
CD223May 2, 2023
CD2472Apr 21, 2023
CD3D1Apr 18, 2023
CD3E2Apr 21, 2023
CD3G1Apr 18, 2023
CD42Apr 18, 2023
CD401Apr 21, 2023
CD441Apr 18, 2023
CD461Apr 18, 2023
CD551Apr 18, 2023
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 21, 2023
CFD1Apr 21, 2023
CFH3Apr 21, 2023
CFHR43May 2, 2023
CFI3Apr 18, 2023
CFP1Apr 18, 2023
CHD24Apr 21, 2023
CHD79Apr 21, 2023
CHEK23Apr 18, 2023
CHRNA22Apr 21, 2023
CHRNA410Apr 18, 2023
CHRNB21Apr 18, 2023
CIITA12Apr 21, 2023
CKMT21Apr 26, 2023
CKMT2-AS11Apr 26, 2023
CLCN41Apr 21, 2023
CLCN72Apr 18, 2023
CLEC7A2Apr 18, 2023
CLN65Apr 21, 2023
CLN83Apr 21, 2023
CNTN24Apr 21, 2023
CNTNAP28Apr 21, 2023
COL12A14Apr 18, 2023
COL1A12Apr 18, 2023
COL1A21Mar 29, 2022
COL3A120Apr 18, 2023
COL5A128May 2, 2023
COL5A222May 10, 2024
COL6A31Apr 21, 2023
COLEC111Apr 21, 2023
COPA2Mar 29, 2022
CORO1A2Apr 21, 2023
CPA63Apr 21, 2023
CR211Apr 21, 2023
CRKL1May 2, 2023
CSF2RA3Apr 26, 2023
CSF2RB3Apr 18, 2023
CSF3R7Apr 18, 2023
CSRP31May 2, 2023
CTC14Apr 21, 2023
CTLA42Apr 21, 2023
CTPS11May 2, 2023
CTSC1Mar 29, 2022
CTSD1May 3, 2023
CTSF2Apr 18, 2023
CUX22Apr 18, 2023
CX3CR11Apr 21, 2023
CXCL121Apr 18, 2023
CXCR13Apr 21, 2023
CXCR43Apr 18, 2023
CYB561D22Apr 21, 2023
CYBA2Apr 21, 2023
CYBB1Apr 21, 2023
CYLD-AS11Apr 18, 2023
CZ1P-ASNS1Apr 21, 2023
DCLRE1C6Apr 21, 2023
DDX3X1Apr 18, 2023
DEPDC52Apr 21, 2023
DHX161Mar 24, 2023
DIAPH11May 3, 2023
DICER11Apr 21, 2023
DIPK1A1Mar 29, 2022
DMD4Apr 18, 2023
DNAH113Apr 21, 2023
DNAJC211Apr 18, 2023
DNM11Apr 21, 2023
DNMT3B6Apr 18, 2023
DOCK73Apr 18, 2023
DOCK88Apr 21, 2023
DOLK1Apr 18, 2023
DSC23Apr 18, 2023
DSG23Apr 18, 2023
DSG2-AS12Apr 18, 2023
DSP10Apr 18, 2023
DSP-AS11Apr 18, 2023
DTNA2Apr 18, 2023
DUSP292May 2, 2023
DYNC1H115Apr 21, 2023
DYRK1A1Apr 21, 2023
EEF1A23Apr 21, 2023
EFEMP25Apr 21, 2023
EFHC12Apr 18, 2023
EHMT11Apr 21, 2023
EIF2B21Apr 18, 2023
ELAC21Apr 18, 2023
ELANE2Apr 21, 2023
EMD1Apr 18, 2023
ENG1Apr 21, 2023
EPB41L21May 2, 2023
EPG511Apr 21, 2023
EPHB43Apr 18, 2023
EPM2A3Apr 21, 2023
EPM2A-DT2Apr 21, 2023
ERCC43Apr 21, 2023
ERCC6L22Apr 21, 2023
EXTL31Apr 18, 2023
EYA42Apr 18, 2023
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, 2023
FARS21Apr 18, 2023
FAS3Apr 26, 2023
FASLG3Apr 21, 2023
FASN4May 2, 2023
FAT45Apr 18, 2023
FBN153Dec 21, 2023
FBN218May 2, 2023
FCGR2A2Mar 29, 2022
FCGR3A2Apr 21, 2023
FCN31Apr 18, 2023
FERMT35Apr 21, 2023
FGFR31Nov 30, 2023
FHOD11May 2, 2023
FHOD31Apr 18, 2023
FKRP6Apr 18, 2023
FKTN1Apr 18, 2023
FLNA10Apr 21, 2023
FLNC8Apr 18, 2023
FLNC-AS11Apr 18, 2023
FOXF12Apr 18, 2023
FOXG12Apr 18, 2023
FOXN16May 2, 2023
FOXP34Apr 21, 2023
FPR11Apr 26, 2023
FRRS1L1Apr 21, 2023
G6PC33Apr 21, 2023
G6PD2Apr 18, 2023
GAA1Apr 18, 2023
GABRA11Apr 21, 2023
GABRB33Apr 18, 2023
GABRD2May 2, 2023
GABRG24Apr 18, 2023
GAMT5Apr 21, 2023
GARS11May 2, 2023
GATA22Apr 18, 2023
GATA41Apr 18, 2023
GATA62Apr 18, 2023
GATAD11Apr 18, 2023
GATM2Apr 18, 2023
GBA12May 2, 2023
GCDH2Apr 18, 2023
GCK2Apr 21, 2023
GFI13May 2, 2023
GH-LCR1Apr 21, 2023
GJB26May 2, 2023
GLDC4Mar 8, 2024
GLRA11Apr 18, 2023
GNAO11Apr 18, 2023
GNB11Apr 18, 2023
GOSR21Mar 29, 2022
GPD1L1Apr 18, 2023
GRIN14Apr 18, 2023
GRIN2A1Apr 18, 2023
GRIN2B3Apr 21, 2023
GRIN2D2May 2, 2023
HAX13Apr 21, 2023
HBA-LCR1Apr 21, 2023
HCN15May 2, 2023
HCN42Apr 18, 2023
HELLS2Apr 18, 2023
HEXA1Apr 21, 2023
HFE2Apr 18, 2023
HFE-AS11Apr 18, 2023
HNRNPU3May 2, 2023
HOXA111Mar 29, 2022
HRAS1Apr 21, 2023
HYOU11Mar 29, 2022
IAH12May 2, 2023
ICAM14Apr 21, 2023
ICOS1Apr 18, 2023
IER3IP11Apr 18, 2023
IFIH126May 2, 2023
IFNAR21Mar 29, 2022
IFNAR2-IL10RB4Apr 18, 2023
IFNGR15Apr 21, 2023
IFNGR21Apr 21, 2023
IGLL13May 2, 2023
IKBKB1Apr 18, 2023
IKBKG4Apr 18, 2023
IL101Apr 18, 2023
IL10RA2Apr 18, 2023
IL10RB3Apr 18, 2023
IL12B2Apr 21, 2023
IL12RB13Apr 18, 2023
IL17RA5Apr 21, 2023
IL17RC1Mar 29, 2022
IL191Apr 18, 2023
IL1RN3Apr 18, 2023
IL21R4Apr 21, 2023
IL21R-AS12Apr 21, 2023
IL2RA1May 2, 2023
IL2RG2Apr 21, 2023
IL4R2Apr 21, 2023
IL7R4Apr 21, 2023
INO803May 2, 2023
INVS1Apr 18, 2023
IRF2BP22Apr 18, 2023
IRF2BPL1Nov 30, 2023
IRF72Mar 29, 2022
IRF81Apr 21, 2023
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, 2023
JUP3Apr 18, 2023
KANSL15Apr 21, 2023
KAT6B4May 2, 2023
KCNB12Apr 21, 2023
KCNC11Apr 18, 2023
KCND22May 2, 2023
KCNE11Apr 18, 2023
KCNH11Apr 18, 2023
KCNH212May 2, 2023
KCNJ103Apr 21, 2023
KCNJ81Apr 26, 2023
KCNK171Apr 26, 2023
KCNMA14Apr 18, 2023
KCNMA1-AS14Apr 18, 2023
KCNQ13Apr 18, 2023
KCNQ24Apr 21, 2023
KCNQ31Apr 21, 2023
KCNT110Apr 26, 2023
KDM6A1Apr 18, 2023
KIT1Apr 18, 2023
KMT2D36May 2, 2023
KPNA71May 2, 2023
KRAS4Apr 18, 2023
KRIT13May 2, 2023
KRT101Apr 18, 2023
LAMA43May 2, 2023
LAMA4-AS11May 2, 2023
LAMB31Apr 18, 2023
LAMP21Apr 18, 2023
LAMTOR21Apr 21, 2023
LCK2Apr 21, 2023
LDB31Apr 18, 2023
LDLR1Apr 21, 2023
LIG48May 2, 2023
LIMASI1Apr 18, 2023
LIPA1Apr 21, 2023
LIX1L-AS11Apr 21, 2023
LMNA2Apr 18, 2023
LMNB21Apr 18, 2023
LMOD21Apr 18, 2023
LOC10144820210Apr 21, 2023
LOC1019280081Mar 29, 2022
LOC1027235661Apr 21, 2023
LOC1027240583Apr 18, 2023
LOC1060293121Apr 21, 2023
LOC1066279812May 2, 2023
LOC1067808031Apr 21, 2023
LOC1071262811Mar 29, 2022
LOC1073033384Apr 21, 2023
LOC1076488511Apr 21, 2023
LOC1082811262Apr 18, 2023
LOC1092865633Apr 18, 2023
LOC1100112162Apr 21, 2023
LOC1101212691Apr 18, 2023
LOC1125336721Mar 29, 2022
LOC1148034702Apr 18, 2023
LOC1148034783Apr 21, 2023
LOC1148278271Apr 18, 2023
LOC1148278511Apr 18, 2023
LOC1244184212Apr 21, 2023
LOC1268057491Mar 29, 2022
LOC1268058511Apr 21, 2023
LOC1268058741Apr 21, 2023
LOC1268059942Apr 21, 2023
LOC1268060673Apr 26, 2023
LOC1268060681May 2, 2023
LOC1268065161Apr 21, 2023
LOC1268071271Mar 29, 2022
LOC1268071372Apr 18, 2023
LOC1268072461Apr 26, 2023
LOC1268595651Apr 18, 2023
LOC1268601242Apr 18, 2023
LOC1268602161Apr 21, 2023
LOC1268604031Apr 21, 2023
LOC1268608751Apr 26, 2023
LOC1268615201Apr 18, 2023
LOC1268618971May 2, 2023
LOC1268621242Nov 30, 2023
LOC1268622649Apr 18, 2023
LOC1268625751Mar 29, 2022
LOC1268627371Apr 18, 2023
LOC1268630141Apr 18, 2023
LOC1268630872Apr 18, 2023
LOC1268630941Mar 29, 2022
LOC1268631401Mar 29, 2022
LOC1268632741Mar 29, 2022
LOC1278985642Apr 21, 2023
LOC1284624091Apr 18, 2023
LOC1293912591Apr 21, 2023
LOC1299314421Apr 26, 2023
LOC1299328121Mar 29, 2022
LOC1299367362May 2, 2023
LOC1299962451Apr 18, 2023
LOC1299973812Apr 21, 2023
LOC1299987931Apr 18, 2023
LOC1299996601Apr 18, 2023
LOC1300003381Apr 21, 2023
LOC1300062351Apr 18, 2023
LOC1300089871Dec 29, 2020
LOC1300095751May 2, 2023
LOC1300570191Mar 29, 2022
LOC1300585151May 2, 2023
LOC1300587122Apr 21, 2023
LOC1300605501Apr 18, 2023
LOC1300609591Apr 21, 2023
LOC1300610642Apr 18, 2023
LOC1300617851Apr 21, 2023
LOC1300617861Apr 21, 2023
LOC1300617922Apr 18, 2023
LOC1300617952Apr 18, 2023
LOC1300629452Apr 21, 2023
LOC1300641831Apr 21, 2023
LOC1300645101Apr 18, 2023
LOC1300675741Apr 18, 2023
LOC1320905951Apr 21, 2023
LOX1Apr 21, 2023
LPIN27Apr 21, 2023
LRBA11May 2, 2023
LRRC37A21Mar 29, 2022
LRRC561Apr 21, 2023
LTBP224Apr 18, 2023
LYST21Apr 21, 2023
MAGI22Apr 21, 2023
MAGT12Mar 29, 2022
MALT11Apr 21, 2023
MAP2K12Apr 18, 2023
MAP3K142May 2, 2023
MAP3K14-AS11Mar 29, 2022
MASP15Apr 21, 2023
MASP25Apr 21, 2023
MBD55Apr 26, 2023
MCFD23Apr 18, 2023
MCM44Apr 21, 2023
MECP213May 3, 2023
MED121Mar 29, 2022
MEFV36May 2, 2023
MFN21Apr 18, 2023
MFSD82Apr 21, 2023
MICU11Apr 21, 2023
MLH13Apr 18, 2023
MOGS4Apr 21, 2023
MRE113May 2, 2023
MRTFA2Mar 29, 2022
MS4A11Apr 21, 2023
MSH21Mar 29, 2022
MSH61Apr 18, 2023
MTHFD12Apr 18, 2023
MTO11Apr 18, 2023
MUS811Apr 21, 2023
MVK2Apr 18, 2023
MVP-DT3May 2, 2023
MYBPC36Apr 18, 2023
MYH1122Apr 18, 2023
MYH63Apr 18, 2023
MYH72May 2, 2023
MYL32Apr 21, 2023
MYL41Apr 18, 2023
MYLK20Apr 18, 2023
MYLK-AS12Apr 18, 2023
MYLK21Apr 18, 2023
MYO18A1May 3, 2023
MYO18B1Apr 18, 2023
MYO5A2Apr 18, 2023
MYOM18Apr 26, 2023
MYOZ21Apr 18, 2023
MYPN4Apr 18, 2023
NALCN2Apr 18, 2023
NBN3Apr 21, 2023
NCF11Apr 21, 2023
NCF22Apr 21, 2023
NCF41Apr 18, 2023
NCSTN1Apr 18, 2023
NDE114Apr 18, 2023
NEBL1Apr 26, 2023
NEDD4L2May 2, 2023
NEXMIF4May 2, 2023
NEXN1May 2, 2023
NF116May 2, 2023
NFAT51Apr 26, 2023
NFKB11Mar 29, 2022
NFKB23Apr 21, 2023
NFKBIA1Apr 21, 2023
NHEJ11Apr 21, 2023
NKIRAS11Apr 21, 2023
NKX2-51Apr 18, 2023
NLRC44Apr 21, 2023
NLRP126Apr 21, 2023
NLRP313Apr 18, 2023
NOD217Apr 21, 2023
NOTCH113Apr 26, 2023
NPIPB22May 2, 2023
NPPA1Apr 18, 2023
NPPA-AS11Apr 18, 2023
NPR21Apr 21, 2023
NPRL31Apr 21, 2023
NRAS1Sep 22, 2017
NRXN18Apr 26, 2023
NSUN62Apr 18, 2023
OBSCN1May 2, 2023
ORAI12Apr 18, 2023
OTC1May 2, 2023
OTULIN2Apr 18, 2023
PACS12Apr 18, 2023
PAH3May 2, 2023
PALB22Apr 18, 2023
PARN3May 2, 2023
PCCB1Apr 18, 2023
PCDH193Apr 21, 2023
PDLIM31Apr 26, 2023
PGM35Apr 21, 2023
PHKA21Apr 21, 2023
PHOX2B4Apr 21, 2023
PIGA2Apr 18, 2023
PIGO3Apr 21, 2023
PIGQ4Apr 21, 2023
PIGV5Apr 21, 2023
PIK3AP12Apr 26, 2023
PIK3CD2Apr 18, 2023
PIK3R12Apr 21, 2023
PKD21Apr 18, 2023
PKP25May 2, 2023
PLCB14May 2, 2023
PLCG27Apr 21, 2023
PLOD18Apr 21, 2023
PMM23Apr 18, 2023
PMS21Apr 18, 2023
PNKD2May 2, 2023
PNKP4Apr 18, 2023
PNP1Apr 21, 2023
PNPO2Apr 21, 2023
POLE9Apr 18, 2023
POLE21Apr 26, 2023
POLG14Apr 21, 2023
POLGARF14Apr 21, 2023
PRDM164Apr 18, 2023
PRF12Apr 21, 2023
PRICKLE13Apr 21, 2023
PRICKLE23May 2, 2023
PRICKLE2-AS12May 2, 2023
PRIMA11Apr 26, 2023
PRKAG23Apr 18, 2023
PRKCD2Apr 21, 2023
PRKDC9Apr 21, 2023
PROC1Apr 18, 2023
PRRT23May 2, 2023
PSMB82Apr 18, 2023
PSTPIP13Apr 21, 2023
PTPN1116Apr 21, 2023
PTPN62May 2, 2023
PTPRC13Apr 18, 2023
QARS15May 2, 2023
RAB27A2Apr 21, 2023
RAC21Apr 18, 2023
RAD51C2Apr 18, 2023
RAF15Apr 21, 2023
RAG15May 2, 2023
RAG22Apr 21, 2023
RASA12Apr 18, 2023
RASGRP12Apr 18, 2023
RBCK12Apr 21, 2023
RBM206Apr 18, 2023
RBM8A2Apr 21, 2023
RC3H11Apr 18, 2023
RECQL45Apr 18, 2023
RELA3Apr 18, 2023
RELN6Apr 21, 2023
RFX52Apr 21, 2023
RFXANK3Apr 21, 2023
RFXAP1May 2, 2023
RIT11Apr 21, 2023
RMRP2Apr 21, 2023
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 21, 2023
RTEL1-TNFRSF6B8Apr 21, 2023
RUNX12May 2, 2023
RUNX1-AS11May 2, 2023
RYR12Apr 21, 2023
RYR211May 2, 2023
RYR37May 2, 2023
SAMD94Apr 26, 2023
SAMD9L3Apr 18, 2023
SARS21Nov 30, 2023
SBDS5May 2, 2023
SBF21Mar 29, 2022
SCARB26Apr 21, 2023
SCN1A12Apr 18, 2023
SCN1A-AS17May 2, 2023
SCN1B2Apr 18, 2023
SCN2A15May 2, 2023
SCN2B1Apr 18, 2023
SCN3A3Apr 21, 2023
SCN4B1Apr 18, 2023
SCN5A15Apr 18, 2023
SCN8A6Apr 18, 2023
SCN9A7May 2, 2023
SDC11May 2, 2023
SELE4May 2, 2023
SELENON1Apr 21, 2023
SELP6May 2, 2023
SEMA3A2May 2, 2023
SERPINA12Apr 18, 2023
SERPING13Apr 21, 2023
SETD28Apr 18, 2023
SGCD1Apr 18, 2023
SGCG1Apr 18, 2023
SGSH2Apr 21, 2023
SH3BP25Apr 21, 2023
SIK13Apr 18, 2023
SKI5Apr 21, 2023
SKIC39May 2, 2023
SLC12A51Apr 21, 2023
SLC13A51Apr 21, 2023
SLC19A31Apr 18, 2023
SLC25A121Apr 21, 2023
SLC25A223Apr 18, 2023
SLC26A5-AS12Apr 21, 2023
SLC29A33Apr 21, 2023
SLC2A15Apr 21, 2023
SLC2A105Apr 21, 2023
SLC35C11Apr 21, 2023
SLC37A46Apr 18, 2023
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, 2023
SMARCAL15May 2, 2023
SNHG142Apr 21, 2023
SNTA12Apr 18, 2023
SNX271Apr 26, 2023
SOS18Apr 26, 2023
SOS22Apr 18, 2023
SP1106Apr 21, 2023
SP1404Apr 21, 2023
SPINK57May 2, 2023
SPTAN18Apr 21, 2023
SRFBP11Apr 21, 2023
ST3GAL33Apr 21, 2023
ST3GAL51Apr 18, 2023
STAT13Apr 21, 2023
STAT22Apr 18, 2023
STAT33Apr 21, 2023
STAT5B6May 2, 2023
STIM16Apr 21, 2023
STING12Dec 22, 2023
STK41Apr 18, 2023
STRADA1Apr 18, 2023
STXBP22Apr 21, 2023
SYN11Apr 18, 2023
SYNE11Apr 18, 2023
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, 2023
TBK12Apr 18, 2023
TBL1XR11Apr 21, 2023
TBX13Apr 21, 2023
TBX2111Apr 18, 2023
TBX51Apr 18, 2023
TBXAS12Dec 12, 2018
TCAP1Apr 18, 2023
TCF37Apr 18, 2023
TCF42Apr 21, 2023
TCN25May 2, 2023
TECRL1Apr 18, 2023
TERT6May 2, 2023
TFRC1Mar 29, 2022
TGFB11Apr 18, 2023
TGFB21Apr 18, 2023
TGFB35Apr 21, 2023
TGFBR14Apr 26, 2023
TGFBR29Apr 26, 2023
TGM12Apr 18, 2023
THBD2Apr 21, 2023
TICAM12Apr 21, 2023
TINF22May 2, 2023
TLN12Apr 26, 2023
TLR22Apr 21, 2023
TLR31Apr 18, 2023
TMC67Apr 21, 2023
TMC814Apr 18, 2023
TMEM431Apr 18, 2023
TMPO1Apr 26, 2023
TNFAIP33Apr 18, 2023
TNFRSF13B7Apr 21, 2023
TNFRSF13C1Apr 18, 2023
TNFRSF172May 2, 2023
TNFRSF1A2Apr 21, 2023
TNFRSF41Mar 29, 2022
TNFSF121Mar 29, 2022
TNFSF12-TNFSF132May 2, 2023
TNFSF131May 2, 2023
TNNI32Apr 21, 2023
TNNT21Apr 18, 2023
TNXB19Apr 21, 2023
TPM12Apr 18, 2023
TPP16Apr 21, 2023
TPP23Apr 18, 2023
TRAF31Mar 29, 2022
TRAF3IP24Apr 21, 2023
TRAF3IP2-AS14Apr 21, 2023
TRDN6Apr 21, 2023
TRDN-AS11Apr 18, 2023
TRNT12Apr 21, 2023
TSC15May 2, 2023
TSC232Nov 30, 2023
TTC7A12Apr 18, 2023
TTN2Apr 18, 2023
TTN-AS12Apr 18, 2023
TUBA1A1Apr 18, 2023
TXNRD23May 2, 2023
TYK25Apr 21, 2023
UBE3A2Apr 21, 2023
UNC1191Apr 21, 2023
UNC13D7Apr 21, 2023
UNC93B12Apr 18, 2023
USB11Apr 21, 2023
USH2A2Mar 29, 2022
USH2A-AS11Mar 29, 2022
VAV13May 2, 2023
VCL4May 2, 2023
VPS13B25Dec 4, 2023
VPS452Apr 21, 2023
VRK22Mar 29, 2022
WAS2May 2, 2023
WDR11Mar 29, 2022
WDR451Apr 21, 2023
WIPF14Apr 18, 2023
WRAP535Apr 21, 2023
WWOX1Apr 21, 2023
XIRP11Apr 26, 2023
XIRP21May 2, 2023
ZAP702Apr 21, 2023
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, 2023
Acromesomelic dysplasia 1, Maroteaux type1Apr 21, 2023
Acromicric dysplasia37May 2, 2023
Action myoclonus-renal failure syndrome6Apr 21, 2023
Acute febrile neutrophilic dermatosis18May 2, 2023
Acute lymphoid leukemia7Apr 21, 2023
Acute myeloid leukemia14May 2, 2023
Adams-Oliver syndrome 513Apr 26, 2023
Adenylosuccinate lyase deficiency4Apr 21, 2023
Adrenoleukodystrophy2Apr 21, 2023
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 21, 2023
Agammaglobulinemia 8, autosomal dominant7Apr 18, 2023
Agammaglobulinemia 8b, autosomal recessive4Apr 18, 2023
Age related macular degeneration 121Apr 21, 2023
Age related macular degeneration 133Apr 18, 2023
Age related macular degeneration 145Apr 21, 2023
Age related macular degeneration 155May 2, 2023
Age related macular degeneration 43Apr 21, 2023
Age related macular degeneration 94May 2, 2023
Aicardi-Goutieres syndrome 22Apr 21, 2023
Aicardi-Goutieres syndrome 62Apr 21, 2023
Aicardi-Goutieres syndrome 726May 2, 2023
Alpha thalassemia-X-linked intellectual disability syndrome4Apr 18, 2023
Alpha-1-antitrypsin deficiency2Apr 18, 2023
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, 2023
Amelocerebrohypohidrotic syndrome4Apr 21, 2023
Amelogenesis imperfecta type 1A1Apr 18, 2023
Anauxetic dysplasia 12Apr 21, 2023
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, 2023
Aortic aneurysm, familial thoracic 61Apr 21, 2023
Aortic aneurysm, familial thoracic 720Apr 18, 2023
Aortic valve disease 113Apr 26, 2023
Aplastic anemia10May 2, 2023
Arginine:glycine amidinotransferase deficiency2Apr 18, 2023
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma10Apr 18, 2023
Arrhythmogenic right ventricular dysplasia 14Apr 21, 2023
Arrhythmogenic right ventricular dysplasia 103Apr 18, 2023
Arrhythmogenic right ventricular dysplasia 113Apr 18, 2023
Arrhythmogenic right ventricular dysplasia 123Apr 18, 2023
Arrhythmogenic right ventricular dysplasia 51Apr 18, 2023
Arrhythmogenic right ventricular dysplasia 810Apr 18, 2023
Arrhythmogenic right ventricular dysplasia 95May 2, 2023
Arterial tortuosity syndrome5Apr 21, 2023
Arthrogryposis multiplex congenita 3, myogenic type1Apr 18, 2023
Aspergillosis, susceptibility to1Apr 18, 2023
Asthma, nasal polyps, and aspirin intolerance11Apr 18, 2023
Ataxia - oculomotor apraxia type 44Apr 18, 2023
Ataxia-pancytopenia syndrome3Apr 18, 2023
Ataxia-telangiectasia syndrome12May 2, 2023
Ataxia-telangiectasia-like disorder 12Apr 18, 2023
Atrial fibrillation, familial, 1015Apr 18, 2023
Atrial fibrillation, familial, 121Apr 18, 2023
Atrial fibrillation, familial, 132Apr 18, 2023
Atrial fibrillation, familial, 141Apr 18, 2023
Atrial fibrillation, familial, 181Apr 18, 2023
Atrial fibrillation, familial, 33Apr 18, 2023
Atrial fibrillation, familial, 61Apr 18, 2023
Atrial septal defect 21Apr 18, 2023
Atrial septal defect 33Apr 18, 2023
Atrial septal defect 71Apr 18, 2023
Atrial septal defect 92Apr 18, 2023
Atrial standstill 21Apr 18, 2023
Atrioventricular septal defect 41Apr 18, 2023
Atrioventricular septal defect 52Apr 18, 2023
Atypical hemolytic-uremic syndrome with B factor anomaly1Apr 21, 2023
Atypical hemolytic-uremic syndrome with C3 anomaly4May 2, 2023
Atypical hemolytic-uremic syndrome with I factor anomaly3Apr 18, 2023
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Apr 18, 2023
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2Apr 21, 2023
Auditory neuropathy, autosomal dominant 31Apr 18, 2023
Autism, susceptibility to, 158Apr 21, 2023
Autism, susceptibility to, X-linked 313May 3, 2023
Autoimmune disease, multisystem, infantile-onset, 22Apr 21, 2023
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome3Apr 21, 2023
Autoimmune interstitial lung disease-arthritis syndrome2Mar 29, 2022
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency2Apr 21, 2023
Autoimmune lymphoproliferative syndrome type 16Apr 26, 2023
Autoimmune lymphoproliferative syndrome type 2A3Apr 18, 2023
Autoimmune lymphoproliferative syndrome type 2B2Apr 18, 2023
Autoimmune lymphoproliferative syndrome type 43Apr 18, 2023
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2Apr 21, 2023
Autoinflammation, immune dysregulation, and eosinophilia2Apr 18, 2023
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation7Apr 21, 2023
Autoinflammatory disease, X-linked2Apr 18, 2023
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 21, 2023
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome6May 2, 2023
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency5Apr 21, 2023
Autosomal dominant nocturnal frontal lobe epilepsy 110Apr 18, 2023
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 26, 2023
Autosomal dominant nonsyndromic hearing loss 11May 3, 2023
Autosomal dominant nonsyndromic hearing loss 102Apr 18, 2023
Autosomal dominant nonsyndromic hearing loss 3A6May 2, 2023
Autosomal dominant nonsyndromic hearing loss 653Apr 18, 2023
Autosomal dominant osteopetrosis 22Apr 18, 2023
Autosomal recessive ataxia, Beauce type1Apr 18, 2023
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, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2G1Apr 18, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2I6Apr 18, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2J2Apr 18, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2M1Apr 18, 2023
Autosomal recessive nonsyndromic hearing loss 1A6May 2, 2023
Autosomal recessive nonsyndromic hearing loss 43Apr 21, 2023
Autosomal recessive nonsyndromic hearing loss 863Apr 18, 2023
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, 2023
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency3Apr 21, 2023
Autosomal recessive spastic paraplegia type 787Apr 21, 2023
Autosomal recessive spinocerebellar ataxia 121Apr 21, 2023
Autosomal recessive spinocerebellar ataxia 76Apr 21, 2023
BENTA disease4Apr 21, 2023
Baller-Gerold syndrome5Apr 18, 2023
Baraitser-Winter syndrome1Nov 30, 2023
Bartter disease type 4A1Apr 18, 2023
Basal cell carcinoma, susceptibility to, 12Apr 18, 2023
Basal laminar drusen3Apr 21, 2023
Becker muscular dystrophy4Apr 18, 2023
Bethlem myopathy 1A1Apr 21, 2023
Bethlem myopathy 24Apr 18, 2023
Biotin-responsive basal ganglia disease1Apr 18, 2023
Birbeck granule deficiency1Apr 21, 2023
Blau syndrome17Apr 21, 2023
Blepharophimosis - intellectual disability syndrome, MKB type1Mar 29, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type4May 2, 2023
Blepharophimosis-impaired intellectual development syndrome1Apr 18, 2023
Blood group, Indian system1Apr 18, 2023
Bloom syndrome4Apr 21, 2023
Bohring-Opitz syndrome2Nov 30, 2023
Bone marrow failure syndrome 31Apr 18, 2023
Bone osteosarcoma3Apr 18, 2023
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome21May 2, 2023
Breast-ovarian cancer, familial, susceptibility to, 21Apr 21, 2023
Breast-ovarian cancer, familial, susceptibility to, 32Apr 18, 2023
Brittle cornea syndrome 117May 2, 2023
Brugada syndrome 115Apr 18, 2023
Brugada syndrome 21Apr 18, 2023
Brugada syndrome 37Apr 18, 2023
Brugada syndrome 42Apr 18, 2023
Brugada syndrome 52Apr 18, 2023
Brugada syndrome 82Apr 18, 2023
Bullous ichthyosiform erythroderma1Apr 18, 2023
C1 inhibitor deficiency3Apr 21, 2023
C1Q deficiency6May 2, 2023
CHARGE association9Apr 21, 2023
COPD, severe early onset1Mar 29, 2022
Café-au-lait macules with pulmonary stenosis14May 2, 2023
Candidiasis, familial, 84Apr 21, 2023
Candidiasis, familial, 91Mar 29, 2022
Capillary malformation-arteriovenous malformation 12Apr 18, 2023
Capillary malformation-arteriovenous malformation 22Apr 18, 2023
Carcinoma of pancreas4May 2, 2023
Cardiac arrhythmia, ankyrin-B-related11Apr 18, 2023
Cardiac valvular dysplasia, X-linked10Apr 21, 2023
Cardiofaciocutaneous syndrome 14Apr 21, 2023
Cardiofaciocutaneous syndrome 24Apr 18, 2023
Cardiofaciocutaneous syndrome 32Apr 18, 2023
Cardiomyopathy, dilated, 2E6Apr 18, 2023
Cardiomyopathy, dilated, 2G1Apr 18, 2023
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis10Apr 18, 2023
Cardiomyopathy, familial hypertrophic, 281Apr 18, 2023
Cardiomyopathy, familial restrictive, 12Apr 21, 2023
Cardiomyopathy, familial restrictive, 31Apr 18, 2023
Catecholaminergic polymorphic ventricular tachycardia 111May 2, 2023
Catecholaminergic polymorphic ventricular tachycardia 21May 2, 2023
Catecholaminergic polymorphic ventricular tachycardia 31Apr 18, 2023
Catecholaminergic polymorphic ventricular tachycardia 56Apr 21, 2023
Celiac disease, susceptibility to, 32Apr 21, 2023
Central core myopathy2Apr 21, 2023
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease4Apr 21, 2023
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, 2023
Cerebral arteriovenous malformation2Apr 18, 2023
Cerebral cavernous malformation3May 2, 2023
Cerebroretinal microangiopathy with calcifications and cysts 14Apr 21, 2023
Cernunnos-XLF deficiency1Apr 21, 2023
Ceroid lipofuscinosis, neuronal, 6A5Apr 21, 2023
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)4Apr 21, 2023
Channelopathy-associated congenital insensitivity to pain, autosomal recessive7May 2, 2023
Charcot-Marie-Tooth disease axonal type 2O15Apr 21, 2023
Charcot-Marie-Tooth disease type 2A21Apr 18, 2023
Charcot-Marie-Tooth disease type 2B12Apr 18, 2023
Charcot-Marie-Tooth disease type 2B22Apr 18, 2023
Charcot-Marie-Tooth disease type 4B21Mar 29, 2022
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1Apr 18, 2023
Childhood onset GLUT1 deficiency syndrome 25Apr 21, 2023
Chromosome 2p16.3 deletion syndrome8Apr 26, 2023
Chronic infantile neurological, cutaneous and articular syndrome13Apr 18, 2023
Chronic myelogenous leukemia, BCR-ABL1 positive3Apr 18, 2023
Chédiak-Higashi syndrome21Apr 21, 2023
Classic homocystinuria3Apr 21, 2023
Cognitive impairment with or without cerebellar ataxia6Apr 18, 2023
Cohen syndrome25Dec 4, 2023
Colorectal cancer10May 2, 2023
Colorectal cancer, hereditary nonpolyposis, type 23Apr 18, 2023
Colorectal cancer, hereditary nonpolyposis, type 68Apr 26, 2023
Colorectal cancer, susceptibility to, 126Apr 18, 2023
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia2Apr 18, 2023
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, 2023
Combined immunodeficiency due to OX40 deficiency1Mar 29, 2022
Combined immunodeficiency due to STIM1 deficiency6Apr 21, 2023
Combined immunodeficiency due to STK4 deficiency1Apr 18, 2023
Combined immunodeficiency due to ZAP70 deficiency2Apr 21, 2023
Combined immunodeficiency due to partial RAG1 deficiency5May 2, 2023
Combined immunodeficiency with faciooculoskeletal anomalies1Apr 18, 2023
Combined immunodeficiency with skin granulomas7May 2, 2023
Combined immunodeficiency, X-linked2Apr 21, 2023
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11Apr 18, 2023
Combined oxidative phosphorylation defect type 141Apr 18, 2023
Combined oxidative phosphorylation defect type 171Apr 18, 2023
Combined oxidative phosphorylation defect type 272Apr 18, 2023
Complement component 2 deficiency4Apr 21, 2023
Complement component 3 deficiency4May 2, 2023
Complement component 5 deficiency2Apr 18, 2023
Complement component 6 deficiency2May 2, 2023
Complement component 7 deficiency2Apr 18, 2023
Complement component 9 deficiency5May 2, 2023
Complement component C1s deficiency4Apr 21, 2023
Complement factor b deficiency1Apr 21, 2023
Congenital contractural arachnodactyly18May 2, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Apr 18, 2023
Congenital defect of folate absorption2Apr 18, 2023
Congenital disorder of glycosylation, type IIr1Apr 18, 2023
Congenital disorder of glycosylation, type IIw3Apr 18, 2023
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Apr 21, 2023
Congenital multicore myopathy with external ophthalmoplegia2Apr 21, 2023
Congenital muscular dystrophy due to LMNA mutation2Apr 18, 2023
Congenital myopathy 4A, autosomal dominant1Apr 21, 2023
Congenital neutropenia-myelofibrosis-nephromegaly syndrome2Apr 21, 2023
Congenital reticular ichthyosiform erythroderma1Apr 18, 2023
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2Apr 21, 2023
Conotruncal heart malformations6Apr 21, 2023
Corneal dystrophy, Fuchs endothelial, 32Apr 21, 2023
Coronary heart disease, susceptibility to, 11Apr 21, 2023
Corpus callosum agenesis-abnormal genitalia syndrome1Apr 18, 2023
Cortical dysplasia-focal epilepsy syndrome8Apr 21, 2023
Costello syndrome1Apr 21, 2023
Creatine transporter deficiency2Apr 18, 2023
Cromer blood group system1Apr 18, 2023
Cryptosporidiosis-chronic cholangitis-liver disease syndrome4Apr 21, 2023
Cutaneous mastocytosis1Apr 18, 2023
Cutis laxa, autosomal recessive, type 1B5Apr 21, 2023
Cyclical neutropenia2Apr 21, 2023
Cystic fibrosis3Apr 18, 2023
DK1-congenital disorder of glycosylation1Apr 18, 2023
DNA ligase IV deficiency8May 2, 2023
DOORS syndrome3Apr 18, 2023
DYRK1A-related intellectual disability syndrome1Apr 21, 2023
Danon disease1Apr 18, 2023
Deafness-lymphedema-leukemia syndrome2Apr 18, 2023
Deficiency of guanidinoacetate methyltransferase5Apr 21, 2023
Dengue virus, susceptibility to2Apr 18, 2023
Desmoid disease, hereditary3May 2, 2023
Developmental and epileptic encephalopathy 1012Apr 18, 2023
Developmental and epileptic encephalopathy 6B7Apr 18, 2023
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, 1115May 2, 2023
Developmental and epileptic encephalopathy, 124May 2, 2023
Developmental and epileptic encephalopathy, 136Apr 18, 2023
Developmental and epileptic encephalopathy, 1410Apr 26, 2023
Developmental and epileptic encephalopathy, 153Apr 21, 2023
Developmental and epileptic encephalopathy, 163Apr 18, 2023
Developmental and epileptic encephalopathy, 171Apr 18, 2023
Developmental and epileptic encephalopathy, 185Apr 18, 2023
Developmental and epileptic encephalopathy, 191Apr 21, 2023
Developmental and epileptic encephalopathy, 21May 2, 2023
Developmental and epileptic encephalopathy, 233Apr 18, 2023
Developmental and epileptic encephalopathy, 245May 2, 2023
Developmental and epileptic encephalopathy, 251Apr 21, 2023
Developmental and epileptic encephalopathy, 262Apr 21, 2023
Developmental and epileptic encephalopathy, 273Apr 21, 2023
Developmental and epileptic encephalopathy, 281Apr 21, 2023
Developmental and epileptic encephalopathy, 33Apr 18, 2023
Developmental and epileptic encephalopathy, 303Apr 18, 2023
Developmental and epileptic encephalopathy, 311Apr 21, 2023
Developmental and epileptic encephalopathy, 333Apr 21, 2023
Developmental and epileptic encephalopathy, 341Apr 21, 2023
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, 427May 2, 2023
Developmental and epileptic encephalopathy, 433Apr 18, 2023
Developmental and epileptic encephalopathy, 462May 2, 2023
Developmental and epileptic encephalopathy, 58Apr 21, 2023
Developmental and epileptic encephalopathy, 522Apr 18, 2023
Developmental and epileptic encephalopathy, 543May 2, 2023
Developmental and epileptic encephalopathy, 623Apr 21, 2023
Developmental and epileptic encephalopathy, 672Apr 18, 2023
Developmental and epileptic encephalopathy, 74Apr 21, 2023
Developmental and epileptic encephalopathy, 742Apr 18, 2023
Developmental and epileptic encephalopathy, 774Apr 21, 2023
Developmental and epileptic encephalopathy, 81May 2, 2023
Developmental and epileptic encephalopathy, 93Apr 21, 2023
DiGeorge syndrome3Apr 21, 2023
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, 2023
Dias-Logan syndrome3Apr 21, 2023
Dilated cardiomyopathy 1A2Apr 18, 2023
Dilated cardiomyopathy 1AA3Apr 18, 2023
Dilated cardiomyopathy 1BB3Apr 18, 2023
Dilated cardiomyopathy 1C1Apr 18, 2023
Dilated cardiomyopathy 1CC1May 2, 2023
Dilated cardiomyopathy 1D1Apr 18, 2023
Dilated cardiomyopathy 1DD6Apr 18, 2023
Dilated cardiomyopathy 1E15Apr 18, 2023
Dilated cardiomyopathy 1EE3Apr 18, 2023
Dilated cardiomyopathy 1FF2Apr 21, 2023
Dilated cardiomyopathy 1G2Apr 18, 2023
Dilated cardiomyopathy 1HH2Apr 18, 2023
Dilated cardiomyopathy 1J2Apr 18, 2023
Dilated cardiomyopathy 1JJ3May 2, 2023
Dilated cardiomyopathy 1KK4Apr 18, 2023
Dilated cardiomyopathy 1L1Apr 18, 2023
Dilated cardiomyopathy 1M1May 2, 2023
Dilated cardiomyopathy 1NN4Apr 21, 2023
Dilated cardiomyopathy 1O1Apr 18, 2023
Dilated cardiomyopathy 1S2May 2, 2023
Dilated cardiomyopathy 1W4May 2, 2023
Dilated cardiomyopathy 1X1Apr 18, 2023
Dilated cardiomyopathy 1Y2Apr 18, 2023
Dilated cardiomyopathy 2A2Apr 21, 2023
Dilated cardiomyopathy 2B1Apr 18, 2023
Dilated cardiomyopathy 3B4Apr 18, 2023
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2Apr 18, 2023
Distal myopathy with posterior leg and anterior hand involvement8Apr 18, 2023
Duchenne muscular dystrophy4Apr 18, 2023
Dyskeratosis congenita, autosomal dominant 26May 2, 2023
Dyskeratosis congenita, autosomal dominant 32May 2, 2023
Dyskeratosis congenita, autosomal recessive 35Apr 21, 2023
Dyskeratosis congenita, autosomal recessive 58Apr 21, 2023
Dyskeratosis congenita, autosomal recessive 63May 2, 2023
Dystonia 124Apr 18, 2023
Dystonia 271Apr 21, 2023
Dystonia 95Apr 21, 2023
EAST syndrome3Apr 21, 2023
Early-onset myopathy with fatal cardiomyopathy2Apr 18, 2023
Ectodermal dysplasia and immunodeficiency 14Apr 18, 2023
Ectodermal dysplasia and immunodeficiency 21Apr 21, 2023
Ectopia lentis 1, isolated, autosomal dominant37May 2, 2023
Ectopia lentis 2, isolated, autosomal recessive15May 2, 2023
Ectopia lentis et pupillae15May 2, 2023
Eculizumab, poor response to1Apr 18, 2023
Ehlers-Danlos syndrome due to tenascin-X deficiency19Apr 21, 2023
Ehlers-Danlos syndrome progeroid type1Dec 12, 2018
Ehlers-Danlos syndrome, arthrochalasia type3Apr 18, 2023
Ehlers-Danlos syndrome, cardiac valvular type1Mar 29, 2022
Ehlers-Danlos syndrome, classic type21May 10, 2024
Ehlers-Danlos syndrome, classic type, 119May 2, 2023
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 21, 2023
Ehlers-Danlos syndrome, spondylocheirodysplastic type1Apr 26, 2023
Ehlers-Danlos syndrome, spondylodysplastic type, 11Apr 18, 2023
Ehlers-Danlos syndrome, spondylodysplastic type, 21Mar 29, 2022
Ehlers-Danlos syndrome, type 420Apr 18, 2023
Eichsfeld type congenital muscular dystrophy1Apr 21, 2023
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2Apr 18, 2023
Emery-Dreifuss muscular dystrophy 3, autosomal recessive2Apr 18, 2023
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Apr 18, 2023
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1Apr 18, 2023
Encephalopathy due to GLUT1 deficiency5Apr 21, 2023
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81Apr 18, 2023
Endometrial carcinoma1Apr 18, 2023
Epidermal nevus1Apr 21, 2023
Epidermodysplasia verruciformis, susceptibility to, 112Apr 21, 2023
Epidermodysplasia verruciformis, susceptibility to, 27Apr 18, 2023
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1Apr 18, 2023
Epilepsy, childhood absence 22Dec 12, 2018
Epilepsy, childhood absence, susceptibility to, 53Apr 18, 2023
Epilepsy, childhood absence, susceptibility to, 61Apr 18, 2023
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 21, 2023
Epilepsy, idiopathic generalized, susceptibility to, 102May 2, 2023
Epilepsy, idiopathic generalized, susceptibility to, 125Apr 21, 2023
Epilepsy, idiopathic generalized, susceptibility to, 131Apr 21, 2023
Epilepsy, idiopathic generalized, susceptibility to, 141Apr 21, 2023
Epilepsy, idiopathic generalized, susceptibility to, 163Apr 18, 2023
Epilepsy, idiopathic generalized, susceptibility to, 182Apr 18, 2023
Epilepsy, juvenile absence, susceptibility to, 11Apr 18, 2023
Epilepsy, progressive myoclonic, 1B3Apr 21, 2023
Episodic ataxia type 27May 2, 2023
Episodic ataxia, type 910May 2, 2023
Episodic kinesigenic dyskinesia 13May 2, 2023
Euthyroid goiter1Apr 21, 2023
FG syndrome 11Mar 29, 2022
FG syndrome 210Apr 21, 2023
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome9Apr 18, 2023
Facioscapulohumeral muscular dystrophy 4, digenic3Apr 18, 2023
Factor H deficiency3Apr 21, 2023
Factor I deficiency2Apr 18, 2023
Familial Mediterranean fever36May 2, 2023
Familial Mediterranean fever, autosomal dominant36May 2, 2023
Familial adenomatous polyposis 13May 2, 2023
Familial amyloid nephropathy with urticaria AND deafness13Apr 18, 2023
Familial cancer of breast22Dec 4, 2023
Familial chronic mucocutaneous candidiasis2Apr 18, 2023
Familial cold autoinflammatory syndrome 113Apr 18, 2023
Familial cold autoinflammatory syndrome 26Apr 21, 2023
Familial cold autoinflammatory syndrome 37Apr 21, 2023
Familial cold autoinflammatory syndrome 44Apr 21, 2023
Familial hemophagocytic lymphohistiocytosis 22Apr 21, 2023
Familial hemophagocytic lymphohistiocytosis 37Apr 21, 2023
Familial hemophagocytic lymphohistiocytosis 52Apr 21, 2023
Familial infantile myoclonic epilepsy3Apr 18, 2023
Familial isolated congenital asplenia1Apr 21, 2023
Familial partial lipodystrophy, Dunnigan type2Apr 18, 2023
Familial porphyria cutanea tarda2Apr 18, 2023
Familial temporal lobe epilepsy 53Apr 21, 2023
Familial temporal lobe epilepsy 76Apr 21, 2023
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 21, 2023
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, 2023
Fanconi anemia complementation group O2Apr 18, 2023
Fanconi anemia complementation group P7May 3, 2023
Fanconi anemia complementation group Q3Apr 21, 2023
Fanconi renotubular syndrome 11Apr 18, 2023
Febrile seizures, familial, 113Apr 21, 2023
Febrile seizures, familial, 84Apr 18, 2023
Fibromatosis, gingival, 17Apr 26, 2023
Fibromuscular dysplasia, multifocal12May 2, 2023
Fibrous dysplasia of jaw5Apr 21, 2023
Frontometaphyseal dysplasia 110Apr 21, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Apr 18, 2023
GM3 synthase deficiency1Apr 18, 2023
Gastric adenocarcinoma and proximal polyposis of the stomach3May 2, 2023
Gastric cancer9May 2, 2023
Gastrointestinal defects and immunodeficiency syndrome 17Apr 18, 2023
Gastrointestinal stromal tumor1Apr 18, 2023
Geleophysic dysplasia 237May 2, 2023
Generalized epilepsy with febrile seizures plus, type 12Apr 18, 2023
Generalized epilepsy with febrile seizures plus, type 104May 2, 2023
Generalized epilepsy with febrile seizures plus, type 212Apr 18, 2023
Generalized epilepsy with febrile seizures plus, type 73Dec 12, 2018
Generalized epilepsy-paroxysmal dyskinesia syndrome4Apr 18, 2023
Generalized juvenile polyposis/juvenile polyposis coli1Dec 12, 2018
Genitopatellar syndrome4May 2, 2023
Germ cell tumor of testis1Apr 18, 2023
Ghosal hematodiaphyseal dysplasia2Dec 12, 2018
Glaucoma 3, primary congenital, D18Apr 18, 2023
Glioma susceptibility 31Apr 21, 2023
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1Apr 21, 2023
Glucocorticoid deficiency 53May 2, 2023
Glucose-6-phosphate transport defect6Apr 18, 2023
Glutaric aciduria, type 12Apr 18, 2023
Glycine encephalopathy 11Mar 8, 2024
Glycine encephalopathy 21Mar 8, 2024
Glycogen storage disease IXa11Apr 21, 2023
Glycogen storage disease type III1Apr 18, 2023
Glycogen storage disease, type II1Apr 18, 2023
Graft-versus-host disease, susceptibility to1Apr 18, 2023
Granulocytopenia with immunoglobulin abnormality1Mar 29, 2022
Granulomatous disease, chronic, X-linked1Apr 21, 2023
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 dominant4May 2, 2023
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive6May 2, 2023
H syndrome3Apr 21, 2023
Haim-Munk syndrome1Mar 29, 2022
Hashimoto thyroiditis2Apr 21, 2023
Hearing loss, autosomal dominant 34, with or without inflammation6Apr 18, 2023
Heart-hand syndrome, Slovenian type2Apr 18, 2023
Helicobacter pylori infection, susceptibility to3Apr 21, 2023
Hemochromatosis type 12Apr 18, 2023
Hemolytic uremic syndrome, atypical, susceptibility to, 13Apr 21, 2023
Hemophagocytic lymphohistiocytosis, familial, 61Apr 18, 2023
Hennekam lymphangiectasia-lymphedema syndrome 12Apr 21, 2023
Hennekam lymphangiectasia-lymphedema syndrome 25Apr 18, 2023
Hepatic veno-occlusive disease-immunodeficiency syndrome6Apr 21, 2023
Hepatitis B virus, susceptibility to6Apr 21, 2023
Hepatitis C virus, susceptibility to2Apr 18, 2023
Hepatocellular carcinoma4May 2, 2023
Hereditary angioedema type 13Apr 21, 2023
Hereditary cryohydrocytosis with reduced stomatin5Apr 21, 2023
Hereditary neutrophilia3Apr 18, 2023
Hereditary spastic paraplegia 771Apr 18, 2023
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12May 2, 2023
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 21, 2023
Histiocytic medullary reticulosis13May 2, 2023
Holt-Oram syndrome1Apr 18, 2023
Hutchinson-Gilford syndrome2Apr 18, 2023
Hyper-IgE recurrent infection syndrome 1, autosomal dominant3Apr 21, 2023
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, 2023
Hypercholesterolemia, familial, 11Apr 21, 2023
Hyperekplexia 11Apr 18, 2023
Hyperimmunoglobulin D with periodic fever2Apr 18, 2023
Hyperinsulinism due to glucokinase deficiency2Apr 21, 2023
Hyperphosphatasia with intellectual disability syndrome 15Apr 21, 2023
Hyperphosphatasia with intellectual disability syndrome 23Apr 21, 2023
Hypertrichotic osteochondrodysplasia Cantu type1Apr 18, 2023
Hypertrophic cardiomyopathy1Apr 26, 2023
Hypertrophic cardiomyopathy 13May 2, 2023
Hypertrophic cardiomyopathy 121May 2, 2023
Hypertrophic cardiomyopathy 143Apr 18, 2023
Hypertrophic cardiomyopathy 154May 2, 2023
Hypertrophic cardiomyopathy 161Apr 18, 2023
Hypertrophic cardiomyopathy 176Apr 18, 2023
Hypertrophic cardiomyopathy 21Apr 18, 2023
Hypertrophic cardiomyopathy 201May 2, 2023
Hypertrophic cardiomyopathy 251Apr 18, 2023
Hypertrophic cardiomyopathy 268Apr 18, 2023
Hypertrophic cardiomyopathy 32Apr 18, 2023
Hypertrophic cardiomyopathy 46Apr 18, 2023
Hypertrophic cardiomyopathy 63Apr 18, 2023
Hypertrophic cardiomyopathy 72Apr 21, 2023
Hypertrophic cardiomyopathy 82Apr 21, 2023
Hypertrophic cardiomyopathy 92Apr 18, 2023
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 21, 2023
Hypopigmentation, organomegaly, and delayed myelination and development1Apr 18, 2023
Hypoplastic left heart syndrome 21Apr 18, 2023
Hypothyroidism, congenital, nongoitrous, 51Apr 18, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 12Apr 18, 2023
Ichthyosis, annular epidermolytic 11Apr 18, 2023
Ichthyosis, hystrix-like, with hearing loss6May 2, 2023
Idiopathic CD4 lymphocytopenia1Apr 21, 2023
IgE responsiveness, atopic6Apr 21, 2023
Immunodeficiency2Apr 26, 2023
Immunodeficiency 10411Apr 21, 2023
Immunodeficiency 1056Apr 18, 2023
Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection1Apr 18, 2023
Immunodeficiency 11b with atopic dermatitis4Apr 21, 2023
Immunodeficiency 142Apr 18, 2023
Immunodeficiency 14b, autosomal recessive1Apr 18, 2023
Immunodeficiency 15a1Apr 18, 2023
Immunodeficiency 182Apr 21, 2023
Immunodeficiency 191Apr 18, 2023
Immunodeficiency 235Apr 21, 2023
Immunodeficiency 252Apr 21, 2023
Immunodeficiency 27A5Apr 21, 2023
Immunodeficiency 281Apr 21, 2023
Immunodeficiency 31B3Apr 21, 2023
Immunodeficiency 32B1Apr 21, 2023
Immunodeficiency 334Apr 18, 2023
Immunodeficiency 355Apr 21, 2023
Immunodeficiency 362Apr 21, 2023
Immunodeficiency 392Mar 29, 2022
Immunodeficiency 451Mar 29, 2022
Immunodeficiency 492Apr 18, 2023
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, 2023
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia1Apr 18, 2023
Immunodeficiency 78 with autoimmunity and developmental delay3Apr 18, 2023
Immunodeficiency 791Apr 18, 2023
Immunodeficiency 83, susceptibility to viral infections1Apr 18, 2023
Immunodeficiency 886Apr 18, 2023
Immunodeficiency 9513May 2, 2023
Immunodeficiency due to CD25 deficiency1May 2, 2023
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 21, 2023
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 21, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 16Apr 18, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 23Apr 21, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 42Apr 18, 2023
Immunoglobulin A deficiency 27Apr 21, 2023
Immunoskeletal dysplasia with neurodevelopmental abnormalities1Apr 18, 2023
Incontinentia pigmenti syndrome4Apr 18, 2023
Infantile convulsions and choreoathetosis3May 2, 2023
Infantile cortical hyperostosis2Apr 18, 2023
Infantile nephronophthisis1Apr 18, 2023
Infantile-onset periodic fever-panniculitis-dermatosis syndrome2Apr 18, 2023
Inflammatory bowel disease 116Apr 21, 2023
Inflammatory bowel disease 253Apr 18, 2023
Inflammatory bowel disease 282Apr 18, 2023
Inflammatory bowel disease, immunodeficiency, and encephalopathy1Apr 18, 2023
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, 2023
Intellectual developmental disorder, autosomal dominant 706Apr 18, 2023
Intellectual disability and myopathy syndrome1Apr 18, 2023
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 21, 2023
Intellectual disability, autosomal dominant 383Apr 21, 2023
Intellectual disability, autosomal dominant 411Apr 21, 2023
Intellectual disability, autosomal dominant 421Apr 18, 2023
Intellectual disability, autosomal dominant 63Apr 21, 2023
Intellectual disability, autosomal dominant 84Apr 18, 2023
Intellectual disability, autosomal recessive 123Apr 21, 2023
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Apr 18, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 14Apr 18, 2023
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked10Apr 21, 2023
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency6Apr 18, 2023
Isolated focal cortical dysplasia type II36May 2, 2023
Jervell and Lange-Nielsen syndrome 13Apr 18, 2023
Jervell and Lange-Nielsen syndrome 21Apr 18, 2023
Junctional epidermolysis bullosa gravis of Herlitz1Apr 18, 2023
Junctional epidermolysis bullosa, non-Herlitz type1Apr 18, 2023
Juvenile myelomonocytic leukemia22May 2, 2023
Juvenile myoclonic epilepsy1Dec 12, 2018
Juvenile polyposis syndrome1May 2, 2023
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2May 2, 2023
Kabuki syndrome 136May 2, 2023
Kabuki syndrome 21Apr 18, 2023
Keratitis fugax hereditaria6Apr 18, 2023
Keratosis palmoplantaris striata 210Apr 18, 2023
King Denborough syndrome2Apr 21, 2023
Kleefstra syndrome 11Apr 21, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1Apr 18, 2023
Knuckle pads, deafness AND leukonychia syndrome6May 2, 2023
Koolen-de Vries syndrome5Apr 21, 2023
Kostmann syndrome3Apr 21, 2023
Kufor-Rakeb syndrome7Apr 21, 2023
LEOPARD syndrome 116Apr 21, 2023
LEOPARD syndrome 25Apr 21, 2023
LEOPARD syndrome 34Apr 21, 2023
Lafora disease3Apr 21, 2023
Landau-Kleffner syndrome1Apr 18, 2023
Large congenital melanocytic nevus1Apr 21, 2023
Lazy leukocyte syndrome1Mar 29, 2022
Left ventricular noncompaction 12Apr 18, 2023
Left ventricular noncompaction 106Apr 18, 2023
Left ventricular noncompaction 84Apr 18, 2023
Leprosy, susceptibility to, 32Apr 21, 2023
Lethal acantholytic epidermolysis bullosa10Apr 18, 2023
Lethal congenital glycogen storage disease of heart3Apr 18, 2023
Leukocyte adhesion deficiency 16Apr 21, 2023
Leukocyte adhesion deficiency 35Apr 21, 2023
Leukocyte adhesion deficiency type II1Apr 21, 2023
Li-Fraumeni syndrome 23Apr 18, 2023
Liang-Wang syndrome3Apr 18, 2023
Linear nevus sebaceous syndrome4Apr 21, 2023
Lipodystrophy, partial, acquired, susceptibility to1Apr 18, 2023
Lissencephaly due to TUBA1A mutation1Apr 18, 2023
Loeys-Dietz syndrome 14Apr 26, 2023
Loeys-Dietz syndrome 29Apr 26, 2023
Loeys-Dietz syndrome 41Apr 18, 2023
Long QT syndrome 13Apr 18, 2023
Long QT syndrome 101Apr 18, 2023
Long QT syndrome 119May 2, 2023
Long QT syndrome 122Apr 18, 2023
Long QT syndrome 151Apr 18, 2023
Long QT syndrome 212May 2, 2023
Long QT syndrome 315Apr 18, 2023
Long QT syndrome 51Apr 18, 2023
Long qt syndrome 87Apr 18, 2023
Lung cancer7Apr 21, 2023
Luscan-Lumish syndrome8Apr 18, 2023
Lymphangiomyomatosis36May 2, 2023
Lymphatic malformation 73Apr 18, 2023
Lymphoma, non-Hodgkin, familial4Apr 21, 2023
Lymphoproliferative syndrome 11Apr 21, 2023
Lynch syndrome 11Mar 29, 2022
Lynch syndrome 41Apr 18, 2023
Lynch syndrome 51Apr 18, 2023
Lysinuric protein intolerance1Apr 18, 2023
Lysosomal acid lipase deficiency1Apr 21, 2023
MASS syndrome37May 2, 2023
MHC class I deficiency10May 2, 2023
MHC class II deficiency18May 2, 2023
MIRAGE syndrome4Apr 26, 2023
MOGS-congenital disorder of glycosylation4Apr 21, 2023
MYH7-related skeletal myopathy2May 2, 2023
MYPN-related myopathy4Apr 18, 2023
Macular degeneration, early-onset16May 2, 2023
Macular dystrophy with central cone involvement2Apr 21, 2023
Majeed syndrome7Apr 21, 2023
Malaria, susceptibility to6Apr 21, 2023
Malignant hyperthermia, susceptibility to, 12Apr 21, 2023
Malignant tumor of esophagus6Apr 26, 2023
Malignant tumor of prostate4Apr 21, 2023
Malignant tumor of urinary bladder3Apr 21, 2023
Mandibuloacral dysplasia with type A lipodystrophy2Apr 18, 2023
Maple syrup urine disease1Apr 18, 2023
Marfan syndrome53Dec 21, 2023
Maturity-onset diabetes of the young type 22Apr 21, 2023
Medulloblastoma1Apr 21, 2023
Meester-Loeys syndrome1Mar 29, 2022
Megacystis-microcolon-intestinal hypoperistalsis syndrome 110Apr 18, 2023
Megacystis-microcolon-intestinal hypoperistalsis syndrome 212Apr 18, 2023
Melanoma, cutaneous malignant, susceptibility to, 13Apr 21, 2023
Melanoma, cutaneous malignant, susceptibility to, 95May 2, 2023
Melnick-Needles syndrome10Apr 21, 2023
Melorheostosis1Apr 18, 2023
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 21, 2023
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency3Apr 21, 2023
Metachondromatosis13Apr 21, 2023
Metaphyseal chondrodysplasia, McKusick type2Apr 21, 2023
Metaphyseal dysplasia without hypotrichosis2Apr 21, 2023
Mevalonic aciduria2Apr 18, 2023
Microcephaly 27, primary, autosomal dominant1Apr 18, 2023
Microcephaly, epilepsy, and diabetes syndrome 11Apr 18, 2023
Microcephaly, normal intelligence and immunodeficiency3Apr 21, 2023
Microcephaly, seizures, and developmental delay4Apr 18, 2023
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, 2023
Microvascular complications of diabetes, susceptibility to, 42Apr 18, 2023
Microvascular complications of diabetes, susceptibility to, 72Apr 18, 2023
Migraine, familial hemiplegic, 17May 2, 2023
Migraine, familial hemiplegic, 312Apr 18, 2023
Mismatch repair cancer syndrome 14Apr 18, 2023
Mismatch repair cancer syndrome 31Apr 18, 2023
Mismatch repair cancer syndrome 41Apr 18, 2023
Mitochondrial DNA depletion syndrome 4b14Apr 21, 2023
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Apr 18, 2023
Monocytopenia with susceptibility to infections2Apr 18, 2023
Monosomy 7 myelodysplasia and leukemia syndrome 13Apr 18, 2023
Monosomy 7 myelodysplasia and leukemia syndrome 22Apr 26, 2023
Mowat-Wilson syndrome2Apr 21, 2023
Moyamoya disease 23Apr 21, 2023
Moyamoya disease 51Apr 21, 2023
Mucocutaneous ulceration, chronic3Apr 18, 2023
Muir-Torré syndrome4Apr 18, 2023
Multiple congenital anomalies-hypotonia-seizures syndrome 22Apr 18, 2023
Multiple gastrointestinal atresias5Dec 29, 2020
Multiple myeloma5May 2, 2023
Multiple sclerosis, susceptibility to, 51Apr 21, 2023
Multiple self-healing squamous epithelioma4Apr 26, 2023
Multisystemic smooth muscle dysfunction syndrome1Apr 21, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Apr 18, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A56Apr 18, 2023
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41Apr 18, 2023
Muscular dystrophy-dystroglycanopathy type B56Apr 18, 2023
Mutilating keratoderma6May 2, 2023
Mycobacterium tuberculosis, susceptibility to12Apr 21, 2023
Myelodysplastic syndrome4Apr 18, 2023
Myhre syndrome2May 2, 2023
Myoclonic epilepsy, juvenile, susceptibility to, 11Apr 18, 2023
Myoclonic-astatic epilepsy1Apr 21, 2023
Myoclonus, familial, 24Apr 18, 2023
Myofibrillar myopathy 41Apr 18, 2023
Myofibrillar myopathy 58Apr 18, 2023
Myofibrillar myopathy 62Apr 18, 2023
Myopathy, congenital, with structured cores and z-line abnormalities3Apr 18, 2023
Myopathy, distal, 6, adult-onset, autosomal dominant3Apr 18, 2023
Myopathy, myofibrillar, 9, with early respiratory failure2Apr 18, 2023
Myopathy, myosin storage, autosomal recessive2May 2, 2023
Myopathy, tubular aggregate, 16Apr 21, 2023
Myopathy, tubular aggregate, 22Apr 18, 2023
Myosin storage myopathy2May 2, 2023
Naxos disease3Apr 18, 2023
Neonatal-onset encephalopathy with rigidity and seizures2Apr 18, 2023
Neoplasm of stomach1Dec 12, 2018
Nephrotic syndrome 152Apr 21, 2023
Netherton syndrome7May 2, 2023
Neural tube defects, folate-sensitive1Apr 18, 2023
Neuroblastoma, susceptibility to, 24Apr 21, 2023
Neurodegeneration with brain iron accumulation 51Apr 21, 2023
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2Apr 18, 2023
Neurodevelopmental disorder with epilepsy and hemochromatosis1Apr 18, 2023
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures7Apr 18, 2023
Neurodevelopmental disorder with involuntary movements1Apr 18, 2023
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive2Apr 18, 2023
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Nov 30, 2023
Neurofibromatosis, familial spinal14May 2, 2023
Neurofibromatosis, type 116May 2, 2023
Neurofibromatosis-Noonan syndrome14May 2, 2023
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 21, 2023
Neuronal ceroid lipofuscinosis 72Apr 21, 2023
Neuronal ceroid lipofuscinosis 83Apr 21, 2023
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant3Apr 21, 2023
Neuropathy, hereditary motor and sensory, type 6A1Apr 18, 2023
Neutropenia, severe congenital, 1, autosomal dominant2Apr 21, 2023
Neutropenia, severe congenital, 2, autosomal dominant3May 2, 2023
Neutrophil immunodeficiency syndrome1Apr 18, 2023
Nicolaides-Baraitser syndrome1Apr 18, 2023
Non-ketotic hyperglycinemia4Nov 20, 2023
Nonimmune chronic idiopathic neutropenia of adults3May 2, 2023
Noonan syndrome 116Apr 21, 2023
Noonan syndrome 34Apr 18, 2023
Noonan syndrome 48Apr 26, 2023
Noonan syndrome 55Apr 21, 2023
Noonan syndrome 61Sep 22, 2017
Noonan syndrome 74Apr 21, 2023
Noonan syndrome 81Apr 21, 2023
Noonan syndrome 92Apr 18, 2023
Norman-Roberts syndrome6Apr 21, 2023
Normophosphatemic familial tumoral calcinosis4Apr 26, 2023
Okt4 epitope deficiency2Apr 18, 2023
Optic atrophy 121Apr 18, 2023
Ornithine carbamoyltransferase deficiency1May 2, 2023
Osteogenesis imperfecta type I2Apr 18, 2023
Osteogenesis imperfecta type III3Apr 18, 2023
Osteogenesis imperfecta with normal sclerae, dominant form3Apr 18, 2023
Osteogenesis imperfecta, perinatal lethal3Apr 18, 2023
Osteoporosis1Apr 18, 2023
Oto-palato-digital syndrome, type I10Apr 21, 2023
Oto-palato-digital syndrome, type II10Apr 21, 2023
PMM2-congenital disorder of glycosylation3Apr 18, 2023
Palmoplantar keratoderma-deafness syndrome6May 2, 2023
Pancreatic cancer, susceptibility to, 21Apr 21, 2023
Pancreatic cancer, susceptibility to, 32Apr 18, 2023
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2Apr 18, 2023
Pancytopenia-developmental delay syndrome2Apr 21, 2023
Papillon-Lefèvre syndrome1Mar 29, 2022
Paroxysmal extreme pain disorder7May 2, 2023
Paroxysmal nocturnal hemoglobinuria 11Apr 18, 2023
Paroxysmal nonkinesigenic dyskinesia 12May 2, 2023
Partington syndrome1Apr 18, 2023
Periodic fever-infantile enterocolitis-autoinflammatory syndrome4Apr 21, 2023
Periodontitis, aggressive 11Mar 29, 2022
Periventricular nodular heterotopia 72May 2, 2023
Permanent neonatal diabetes mellitus 12Apr 21, 2023
Phenylketonuria3May 2, 2023
Phosphate transport defect6Apr 18, 2023
Piebaldism1Apr 18, 2023
Pierpont syndrome1Apr 21, 2023
Pitt-Hopkins syndrome2Apr 21, 2023
Pitt-Hopkins-like syndrome 28Apr 26, 2023
Pityriasis rubra pilaris4Apr 21, 2023
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease2Apr 18, 2023
Pleuropulmonary blastoma1Apr 21, 2023
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, 2023
Porcupine man1Apr 18, 2023
Porokeratosis 3, disseminated superficial actinic type2Apr 18, 2023
Postmenopausal osteoporosis2Mar 29, 2022
Predisposition to invasive fungal disease due to CARD9 deficiency6May 2, 2023
Premature ovarian failure 153Apr 18, 2023
Primary ciliary dyskinesia 73Apr 21, 2023
Primary erythromelalgia7May 2, 2023
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, 2023
Progeroid and marfanoid aspect-lipodystrophy syndrome37May 2, 2023
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 114Apr 21, 2023
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 114Apr 21, 2023
Progressive familial heart block, type 1A15Apr 18, 2023
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1May 3, 2023
Progressive myoclonic epilepsy type 61Mar 29, 2022
Progressive myoclonic epilepsy type 71Apr 18, 2023
Progressive myoclonic epilepsy type 91Apr 18, 2023
Progressive sclerosing poliodystrophy14Apr 21, 2023
Properdin deficiency, X-linked1Apr 18, 2023
Propionic acidemia1Apr 18, 2023
Prostate cancer, hereditary, 21Apr 18, 2023
Proteasome-associated autoinflammatory syndrome 12Apr 18, 2023
Protein-losing enteropathy1Apr 18, 2023
Proximal myopathy with extrapyramidal signs1Apr 21, 2023
Pseudo-TORCH syndrome 31Apr 18, 2023
Psoriasis 13, susceptibility to3Apr 21, 2023
Psoriasis 24Apr 21, 2023
Psoriatic arthritis, susceptibility to7Mar 29, 2022
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 16May 2, 2023
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 38Apr 21, 2023
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 43May 2, 2023
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, 2023
Radial aplasia-thrombocytopenia syndrome2Apr 21, 2023
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11Mar 29, 2022
Rapadilino syndrome5Apr 18, 2023
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, 2023
Retinitis pigmentosa 392Mar 29, 2022
Retinitis pigmentosa and erythrocytic microcytosis2Apr 21, 2023
Rett syndrome13May 3, 2023
Rett syndrome, congenital variant2Apr 18, 2023
Revesz syndrome2May 2, 2023
Rhabdomyolysis, susceptibility to, 11May 2, 2023
Rhabdomyosarcoma, embryonal, 21Apr 21, 2023
Rheumatoid arthritis10Apr 21, 2023
Rienhoff syndrome5Apr 21, 2023
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1Apr 18, 2023
Rothmund-Thomson syndrome type 25Apr 18, 2023
SHORT syndrome2Apr 21, 2023
STAT3-related early-onset multisystem autoimmune disease3Apr 21, 2023
STING-associated vasculopathy with onset in infancy1Dec 22, 2023
SUDDEN INFANT DEATH SYNDROME15Apr 18, 2023
Schimke immuno-osseous dysplasia5May 2, 2023
Schuurs-Hoeijmakers syndrome2Apr 18, 2023
Seizures, benign familial infantile, 23May 2, 2023
Seizures, benign familial infantile, 315May 2, 2023
Seizures, benign familial infantile, 56Apr 18, 2023
Seizures, benign familial neonatal, 14Apr 21, 2023
Seizures, benign familial neonatal, 21Apr 21, 2023
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis14Apr 21, 2023
Severe combined immunodeficiency due to CARD11 deficiency4Apr 21, 2023
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 21, 2023
Severe combined immunodeficiency due to DNA-PKcs deficiency9Apr 21, 2023
Severe combined immunodeficiency due to IKK2 deficiency1Apr 18, 2023
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-positive7May 2, 2023
Severe myoclonic epilepsy in infancy15Apr 18, 2023
Severe neonatal-onset encephalopathy with microcephaly13May 3, 2023
Short QT syndrome type 112May 2, 2023
Short QT syndrome type 23Apr 18, 2023
Short stature with nonspecific skeletal abnormalities1Apr 21, 2023
Shprintzen-Goldberg syndrome5Apr 21, 2023
Shwachman-Diamond syndrome 15May 2, 2023
Sick sinus syndrome 115Apr 18, 2023
Sick sinus syndrome 2, autosomal dominant2Apr 18, 2023
Sick sinus syndrome 3, susceptibility to3Apr 18, 2023
Singleton-Merten syndrome 126May 2, 2023
Sneddon syndrome1Apr 18, 2023
Spastic ataxia 51Apr 18, 2023
Spermatogenic failure 283Apr 18, 2023
Spinocerebellar ataxia 493Apr 18, 2023
Spinocerebellar ataxia type 281Apr 18, 2023
Spinocerebellar ataxia type 67May 2, 2023
Spondyloenchondrodysplasia with immune dysregulation1Apr 21, 2023
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1Mar 29, 2022
Sterile multifocal osteomyelitis with periostitis and pustulosis3Apr 18, 2023
Stiff skin syndrome37May 2, 2023
Stormorken syndrome6Apr 21, 2023
Succinate-semialdehyde dehydrogenase deficiency1Apr 21, 2023
Surfactant metabolism dysfunction, pulmonary, 53Apr 18, 2023
Susceptibility to HIV infection14Apr 21, 2023
Susceptibility to respiratory infections associated with CD8alpha chain mutation3May 2, 2023
Symmetrical dyschromatosis of extremities2Apr 21, 2023
Syndromic X-linked intellectual disability Hedera type2Apr 18, 2023
Syndromic X-linked intellectual disability Lubs type13May 3, 2023
Syndromic multisystem autoimmune disease due to ITCH deficiency3May 2, 2023
Systemic lupus erythematosus4Apr 21, 2023
Systemic lupus erythematosus, susceptibility to, 910Apr 21, 2023
T-B+ severe combined immunodeficiency due to JAK3 deficiency3May 2, 2023
T-cell immunodeficiency, congenital alopecia, and nail dystrophy6May 2, 2023
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant4May 2, 2023
TFRC-related combined immunodeficiency1Mar 29, 2022
TNF receptor-associated periodic fever syndrome (TRAPS)2Apr 21, 2023
Tall stature-scoliosis-macrodactyly of the great toes syndrome1Apr 21, 2023
Tay-Sachs disease1Apr 21, 2023
Telangiectasia, hereditary hemorrhagic, type 11Apr 21, 2023
Telangiectasia, hereditary hemorrhagic, type 21Apr 21, 2023
Temple-Baraitser syndrome1Apr 18, 2023
Temtamy syndrome1Apr 18, 2023
Terminal osseous dysplasia-pigmentary defects syndrome10Apr 21, 2023
Testicular anomalies with or without congenital heart disease1Apr 18, 2023
Tetralogy of Fallot7Apr 21, 2023
Thrombocytopenia 12May 2, 2023
Thrombocytopenia 22Apr 18, 2023
Thrombomodulin-related bleeding disorder2Apr 21, 2023
Thrombophilia due to protein C deficiency, autosomal dominant1Apr 18, 2023
Thrombophilia due to protein C deficiency, autosomal recessive1Apr 18, 2023
Thromboxane synthetase deficiency2Dec 12, 2018
Thyroid cancer, nonmedullary, 21Apr 21, 2023
Tibial muscular dystrophy2Apr 18, 2023
Timothy syndrome7Apr 18, 2023
Tobacco addiction, susceptibility to5Apr 18, 2023
Toriello-Lacassie-Droste syndrome2Apr 18, 2023
Transcobalamin II deficiency5May 2, 2023
Transferrin serum level quantitative trait locus 22Apr 18, 2023
Trichohepatoenteric syndrome 13Mar 29, 2022
Tuberous sclerosis 15May 2, 2023
Tuberous sclerosis 232Nov 30, 2023
Type 1 diabetes mellitus 101May 2, 2023
Type 1 diabetes mellitus 122Apr 21, 2023
Type 1 diabetes mellitus 222Apr 18, 2023
Type 2 diabetes mellitus2Apr 21, 2023
Type I complement component 8 deficiency1Apr 21, 2023
Type II complement component 8 deficiency4Apr 21, 2023
Ullrich congenital muscular dystrophy 1A1Apr 21, 2023
Ullrich congenital muscular dystrophy 24Apr 18, 2023
Usher syndrome type 2A2Mar 29, 2022
Van Maldergem syndrome 25Apr 18, 2023
Vanishing white matter disease1Apr 18, 2023
Variegate porphyria2Apr 18, 2023
Vasculitis due to ADA2 deficiency1Apr 18, 2023
Velocardiofacial syndrome3Apr 21, 2023
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome11May 2, 2023
Ventricular fibrillation, paroxysmal familial, type 115Apr 18, 2023
Ventricular septal defect 11Apr 18, 2023
Ventricular septal defect 31Apr 18, 2023
Very long chain acyl-CoA dehydrogenase deficiency2May 2, 2023
Vesicoureteral reflux 819Apr 21, 2023
Vici syndrome11Apr 21, 2023
Visceral myopathy 212Apr 18, 2023
WHIM syndrome 12Apr 18, 2023
Warts, hypogammaglobulinemia, infections, and myelokathexis1Dec 12, 2018
Weill-Marchesani 4 syndrome, recessive11May 2, 2023
Weill-Marchesani syndrome 17Apr 21, 2023
Weill-Marchesani syndrome 2, dominant37May 2, 2023
Weill-Marchesani syndrome 324Apr 18, 2023
West Nile virus, susceptibility to2Apr 18, 2023
Wilms tumor 11Apr 21, 2023
Wilson disease2May 2, 2023
Wiskott-Aldrich syndrome2May 2, 2023
Wiskott-Aldrich syndrome 24Apr 18, 2023
Wolff-Parkinson-White pattern3Apr 18, 2023
Woolly hair-skin fragility syndrome10Apr 18, 2023
X-linked Emery-Dreifuss muscular dystrophy1Apr 18, 2023
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1Apr 21, 2023
X-linked agammaglobulinemia3Apr 21, 2023
X-linked agammaglobulinemia with growth hormone deficiency3Apr 21, 2023
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia2Mar 29, 2022
X-linked intellectual disability with marfanoid habitus1Mar 29, 2022
X-linked intellectual disability, Cantagrel type4May 2, 2023
X-linked intellectual disability-psychosis-macroorchidism syndrome13May 3, 2023
X-linked lissencephaly with abnormal genitalia1Apr 18, 2023
X-linked parkinsonism-spasticity syndrome2Apr 18, 2023
X-linked severe combined immunodeficiency2Apr 21, 2023
X-linked severe congenital neutropenia2May 2, 2023
X-linked spondyloepimetaphyseal dysplasia1Mar 29, 2022
XFE progeroid syndrome3Apr 21, 2023
Xeroderma pigmentosum, group F3Apr 21, 2023
Yao syndrome16Apr 21, 2023
Zimmermann-Laband syndrome 11Apr 18, 2023
not provided107May 3, 2023