Fulgent Genetics (Fulgent Genetics)

General information

Fulgent Genetics
Fulgent Genetics
4978 Santa Anita Ave.
Suite 205
Temple City
California
United States - 91780
https://FulgentGenetics.com/
Organization ID: 500105

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 4918

Gene

GeneSubmissionsLast Updated
AARS11Nov 14, 2018
AASS1Nov 14, 2018
ABCA121Nov 14, 2018
ABCA419Nov 14, 2018
ABCB113Nov 14, 2018
ABCB42Nov 14, 2018
ABCC23Nov 14, 2018
ABCC66Nov 14, 2018
ABCC88Nov 14, 2018
ABCC92Nov 14, 2018
ABCD13Nov 14, 2018
ABCD41Nov 14, 2018
ABCG52Nov 14, 2018
ABCG82Nov 14, 2018
ACAD91Nov 14, 2018
ACADM7Nov 14, 2018
ACADS4Nov 14, 2018
ACADSB1Nov 14, 2018
ACADVL3Nov 14, 2018
ACAN1Aug 5, 2016
ACAT11Nov 14, 2018
ACO23Nov 14, 2018
ACSF31Nov 14, 2018
ACSL41Nov 14, 2018
ACTA21Nov 14, 2018
ACTG23Nov 14, 2018
ACTN21May 23, 2017
ACVR11Nov 14, 2018
ACVRL15Nov 14, 2018
ADA4Nov 14, 2018
ADA21Nov 14, 2018
ADAMTS23Nov 14, 2018
ADAR1Nov 14, 2018
ADCY51Nov 14, 2018
ADGRG13Nov 14, 2018
ADGRV126Nov 14, 2018
ADNP2Nov 14, 2018
ADSL6Nov 14, 2018
ADSS11Nov 14, 2018
AFF21Nov 14, 2018
AGA1Nov 14, 2018
AGL7Nov 14, 2018
AGPS1Nov 14, 2018
AGRN2Nov 14, 2018
AGXT4Nov 14, 2018
AHI12Nov 14, 2018
AIFM11Nov 14, 2018
AIP2Nov 14, 2018
AIPL11Nov 14, 2018
AIRE1Nov 14, 2018
AK21Nov 14, 2018
AKAP92Nov 14, 2018
ALDH18A11Nov 14, 2018
ALDH5A14Nov 14, 2018
ALDH7A14Nov 14, 2018
ALDOB3Nov 14, 2018
ALG12Nov 14, 2018
ALG121Nov 14, 2018
ALG131Nov 14, 2018
ALG21Nov 14, 2018
ALG62Nov 14, 2018
ALG81Nov 14, 2018
ALG91Nov 14, 2018
ALK11Nov 14, 2018
ALMS112Nov 14, 2018
ALPL7Nov 14, 2018
ALS23Nov 14, 2018
AMACR2Nov 14, 2018
AMPD12Nov 14, 2018
AMT1Nov 14, 2018
ANK27Nov 14, 2018
ANK313Nov 14, 2018
ANKRD112Nov 14, 2018
ANKRD261Nov 14, 2018
ANO101Nov 14, 2018
ANO31Nov 14, 2018
ANO54Nov 14, 2018
AOPEP2Nov 14, 2018
AP2S11Nov 14, 2018
AP3B13Nov 14, 2018
AP4B12Nov 14, 2018
AP4B1-AS11Nov 14, 2018
AP4E12Nov 14, 2018
AP4M12Nov 14, 2018
AP5Z11Nov 14, 2018
APC33Nov 14, 2018
APC21Nov 14, 2018
APOB2Nov 14, 2018
AR2Nov 14, 2018
ARFGEF1-DT1Nov 14, 2018
ARFGEF21Nov 14, 2018
ARG12Nov 14, 2018
ARHGEF91Nov 14, 2018
ARID1A1Nov 14, 2018
ARID1B4Nov 14, 2018
ARL13B2Nov 14, 2018
ARSA9Nov 14, 2018
ARSB2Nov 14, 2018
ARX2Nov 14, 2018
ASIC4-AS11Nov 14, 2018
ASL3Nov 14, 2018
ASNS1Nov 14, 2018
ASPA3Nov 14, 2018
ASPM17Nov 14, 2018
ASS17Nov 14, 2018
ASTN21Nov 14, 2018
ATM101Nov 14, 2018
ATP13A24Nov 14, 2018
ATP1A29Nov 14, 2018
ATP1A34Nov 14, 2018
ATP6V0A24Nov 14, 2018
ATP6V0A41Nov 14, 2018
ATP6V1B13Nov 14, 2018
ATP7B12Nov 14, 2018
ATP8B12Nov 14, 2018
ATR2Nov 14, 2018
ATRIP3Nov 14, 2018
ATRIP-TREX13Nov 14, 2018
ATRX5Nov 14, 2018
AUH3Nov 14, 2018
AXDND12Nov 14, 2018
AXIN211Nov 14, 2018
B3GALNT22Nov 14, 2018
B3GALT61Nov 14, 2018
B3GAT31Nov 14, 2018
B4GALT71Nov 14, 2018
B4GAT11Nov 14, 2018
BAG36Nov 14, 2018
BAP18Nov 14, 2018
BARD123Nov 14, 2018
BBS14Nov 14, 2018
BBS103Nov 14, 2018
BBS122Nov 14, 2018
BBS25Nov 14, 2018
BBS52Nov 14, 2018
BCHE1Nov 14, 2018
BCKDHA1Nov 14, 2018
BCKDHB2Nov 14, 2018
BCKDK1Nov 14, 2018
BCOR1Nov 14, 2018
BCS1L2Nov 14, 2018
BEST11Nov 14, 2018
BIN13Nov 14, 2018
BIVM-ERCC52Nov 14, 2018
BLM19Nov 14, 2018
BMPR1A5Nov 14, 2018
BMPR22Nov 14, 2018
BRAF9Nov 14, 2018
BRAT14Nov 14, 2018
BRCA169Nov 14, 2018
BRCA299Nov 14, 2018
BRIP122Nov 14, 2018
BSCL21Nov 14, 2018
BTD8Nov 14, 2018
BUB1B7Nov 14, 2018
C10orf1054Nov 14, 2018
C11orf6535Nov 14, 2018
C12orf571Nov 14, 2018
C1QTNF3-AMACR2Nov 14, 2018
C31Nov 14, 2018
C3orf801Nov 14, 2018
CACNA1A14Nov 14, 2018
CACNA1C10Nov 14, 2018
CACNA1C-AS16Nov 14, 2018
CACNA1G1Nov 14, 2018
CACNA1H13Nov 14, 2018
CACNA1S4Nov 14, 2018
CACNA2D26Nov 14, 2018
CACNB22Nov 14, 2018
CACNB43Nov 14, 2018
CALR31Nov 14, 2018
CAPN310Nov 14, 2018
CARD111Nov 14, 2018
CARD141Nov 14, 2018
CASK1Nov 14, 2018
CASQ23Nov 14, 2018
CASR1Nov 14, 2018
CAV31Nov 14, 2018
CBL1Nov 14, 2018
CBS13Nov 14, 2018
CC2D1A2Nov 14, 2018
CC2D2A14Nov 14, 2018
CCDC1031Nov 14, 2018
CCDC1071Nov 14, 2018
CCDC392Nov 14, 2018
CCDC402Nov 14, 2018
CCDC782Nov 14, 2018
CCDC88C4Nov 14, 2018
CCNH2Nov 14, 2018
CD2471Nov 14, 2018
CD40LG1Nov 14, 2018
CDC421Nov 14, 2018
CDH111Nov 14, 2018
CDH152Nov 14, 2018
CDH2319Nov 14, 2018
CDK131Nov 14, 2018
CDK41Nov 14, 2018
CDKL54Nov 14, 2018
CDKN1B2Nov 14, 2018
CDKN1C2Nov 14, 2018
CDKN2A4Nov 14, 2018
CDT11Nov 14, 2018
CEBPA5Nov 14, 2018
CEL1Nov 14, 2018
CENPE1Nov 14, 2018
CENPJ7Nov 14, 2018
CEP1041Nov 14, 2018
CEP1523Nov 14, 2018
CEP1641Nov 14, 2018
CEP29020Nov 14, 2018
CEP573Nov 14, 2018
CERKL3Nov 14, 2018
CFTR39Nov 14, 2018
CFTR-AS13Nov 14, 2018
CHD25Nov 14, 2018
CHD713Nov 14, 2018
CHD81Nov 14, 2018
CHEK241Nov 14, 2018
CHM1Nov 14, 2018
CHPT11Nov 14, 2018
CHRNA22Nov 14, 2018
CHRNA44Nov 14, 2018
CHRNB22Nov 14, 2018
CHRND3Nov 14, 2018
CHRNE1Nov 14, 2018
CHRNG1Nov 14, 2018
CLCC11Nov 14, 2018
CLCN17Nov 14, 2018
CLCN21Nov 14, 2018
CLN33Nov 14, 2018
CLN51Nov 14, 2018
CLN64Nov 14, 2018
CLN82Nov 14, 2018
CNGA31Nov 14, 2018
CNGB31Nov 14, 2018
CNTN23Nov 14, 2018
CNTNAP221Nov 14, 2018
COG52Nov 14, 2018
COG61Nov 14, 2018
COG81Nov 14, 2018
COL11A23Nov 14, 2018
COL12A110Nov 14, 2018
COL18A11Nov 14, 2018
COL1A112Nov 14, 2018
COL1A28Nov 14, 2018
COL27A11Nov 14, 2018
COL2A14Nov 14, 2018
COL3A16Nov 14, 2018
COL4A13Nov 14, 2018
COL4A38Nov 14, 2018
COL4A42Nov 14, 2018
COL4A51Nov 14, 2018
COL5A110Nov 14, 2018
COL5A24Nov 14, 2018
COL6A14Nov 14, 2018
COL6A23Nov 14, 2018
COL6A39Nov 14, 2018
COL7A110Nov 14, 2018
COL9A13Nov 14, 2018
COL9A22Nov 14, 2018
COL9A32Nov 14, 2018
COQ8A1Nov 14, 2018
COQ91Nov 14, 2018
COX103Nov 14, 2018
COX201Nov 14, 2018
CP4Nov 14, 2018
CPA62Nov 14, 2018
CPLANE15Nov 14, 2018
CPS14Nov 14, 2018
CPT1A1Nov 14, 2018
CPT212Nov 14, 2018
CRB12Nov 14, 2018
CREB3L11Nov 14, 2018
CREBBP2Nov 14, 2018
CRTAP1Nov 14, 2018
CRYAB1Nov 14, 2018
CRYM1Nov 14, 2018
CSRP31Nov 14, 2018
CSTB1Nov 14, 2018
CTC16Nov 14, 2018
CTF11Nov 14, 2018
CTNNA32Nov 14, 2018
CTNNB11Nov 14, 2018
CTNND21Jul 27, 2020
CTNS2Nov 14, 2018
CTSD1Nov 14, 2018
CUL71Nov 14, 2018
CYB561D24Nov 14, 2018
CYP11B12Nov 14, 2018
CYP17A12Nov 14, 2018
CYP1B12Nov 14, 2018
CYP21A27Nov 14, 2018
CYP24A12Nov 14, 2018
CYP27A15Nov 14, 2018
CZ1P-ASNS1Nov 14, 2018
D2HGDH1Nov 14, 2018
DAG11Nov 14, 2018
DARS21Nov 14, 2018
DBT2Nov 14, 2018
DCLRE1C1Nov 14, 2018
DCTN13Nov 14, 2018
DDHD21Nov 14, 2018
DDX3X1Nov 14, 2018
DEAF11Nov 14, 2018
DEPDC57Nov 14, 2018
DES2Nov 14, 2018
DGAT11Nov 14, 2018
DGUOK1Nov 14, 2018
DHCR241Nov 14, 2018
DHCR719Nov 14, 2018
DHDDS1Nov 14, 2018
DIAPH12Nov 14, 2018
DICER111Nov 14, 2018
DIPK1A1Nov 14, 2018
DIS3L214Nov 14, 2018
DLD2Nov 14, 2018
DLGAP4-AS11Mar 9, 2020
DMD14Nov 14, 2018
DMP11Nov 14, 2018
DNAAF11Nov 14, 2018
DNAAF21Nov 14, 2018
DNAAF32Nov 14, 2018
DNAAF54Nov 14, 2018
DNAH118Nov 14, 2018
DNAH57Nov 14, 2018
DNAH84Nov 14, 2018
DNAH8-AS11Nov 14, 2018
DNAI12Nov 14, 2018
DNAI21Nov 14, 2018
DNM11Nov 14, 2018
DNM1L1Nov 14, 2018
DNM21Nov 14, 2018
DOCK72Nov 14, 2018
DOCK81Nov 14, 2018
DOK71Nov 14, 2018
DPM21Nov 14, 2018
DPYD6Nov 14, 2018
DPYD-AS12Nov 14, 2018
DRC12Nov 14, 2018
DSC22Nov 14, 2018
DSP7Nov 14, 2018
DUOX21Nov 14, 2018
DYNC1H16Nov 14, 2018
DYNC2H13Nov 14, 2018
DYNC2LI12Nov 14, 2018
DYRK1A1Nov 14, 2018
DYSF11Nov 14, 2018
EARS21Nov 14, 2018
ECHS11Nov 14, 2018
EDA2Nov 14, 2018
EEF1A21Nov 14, 2018
EFEMP22Nov 14, 2018
EFHC15Nov 14, 2018
EGLN11Nov 14, 2018
EHMT17Nov 14, 2018
EIF2AK32Nov 14, 2018
EIF2B31Nov 14, 2018
EIF2B41Nov 14, 2018
EIF2B52Nov 14, 2018
ELANE1Nov 14, 2018
ELN3Nov 14, 2018
ELOVL41Nov 14, 2018
ELP11Nov 14, 2018
ELP41Nov 14, 2018
ENG5Nov 14, 2018
EPCAM3Nov 14, 2018
EPG51Nov 14, 2018
EPM2A4Nov 14, 2018
EPS81Nov 14, 2018
ERCC24Nov 14, 2018
ERCC31Nov 14, 2018
ERCC42Nov 14, 2018
ERCC52Nov 14, 2018
ERCC69Nov 14, 2018
ERCC6-PGBD31Nov 14, 2018
ERCC82Nov 14, 2018
ERF1Nov 14, 2018
ESPN1Nov 14, 2018
ESR11Nov 14, 2018
ETFDH4Nov 14, 2018
ETHE11Nov 14, 2018
EVC26Nov 14, 2018
EXOSC31May 23, 2017
EXT23Nov 14, 2018
EYA11Nov 14, 2018
EYS5Nov 14, 2018
EZH21Nov 14, 2018
F118Nov 14, 2018
F11-AS12Nov 14, 2018
F121Nov 14, 2018
F51Nov 14, 2018
FA2H1Nov 14, 2018
FAH5Nov 14, 2018
FAM126A1Nov 14, 2018
FAM161A2Nov 14, 2018
FAM20A1Nov 14, 2018
FAN11Nov 14, 2018
FANCA22Nov 14, 2018
FANCB2Nov 14, 2018
FANCC6Nov 14, 2018
FANCD25Nov 14, 2018
FANCE7Nov 14, 2018
FANCF5Nov 14, 2018
FANCG4Nov 14, 2018
FANCI16Nov 14, 2018
FANCM10Nov 14, 2018
FAS1Nov 14, 2018
FASLG1Nov 14, 2018
FASN5Nov 14, 2018
FBN127Nov 14, 2018
FBN27Nov 14, 2018
FBXL31Nov 14, 2018
FBXL41Nov 14, 2018
FBXO30-DT2Nov 14, 2018
FGF31Nov 14, 2018
FGFR12Nov 14, 2018
FGFR29Nov 14, 2018
FGFR39Nov 14, 2018
FH5Nov 14, 2018
FIG41Nov 14, 2018
FKBP101Nov 14, 2018
FKRP8Nov 14, 2018
FKTN5Nov 14, 2018
FLCN6Nov 14, 2018
FLG3Nov 14, 2018
FLG-AS11Nov 14, 2018
FLNA8Nov 14, 2018
FLNB2Nov 14, 2018
FLNC9Nov 14, 2018
FLNC-AS12Nov 14, 2018
FLVCR11Nov 14, 2018
FMO31Nov 14, 2018
FOLR11Nov 14, 2018
FOXC11Nov 14, 2018
FOXG11Nov 14, 2018
FOXP11Nov 14, 2018
FOXRED12Nov 14, 2018
FRAS13Nov 14, 2018
FREM11Nov 14, 2018
FREM21Nov 14, 2018
FSCN21Nov 14, 2018
FUCA11Nov 14, 2018
FUS1Nov 14, 2018
FYCO11Nov 14, 2018
FZD41Nov 14, 2018
G6PC13Nov 14, 2018
G6PD6Nov 14, 2018
GAA12Nov 14, 2018
GABRB21Nov 14, 2018
GABRB32Nov 14, 2018
GABRD1Nov 14, 2018
GABRG21Nov 14, 2018
GALC4Nov 14, 2018
GALNS2Nov 14, 2018
GALNT126Nov 14, 2018
GALNT31Nov 14, 2018
GALT6Nov 14, 2018
GAMT4Nov 14, 2018
GAN2Nov 14, 2018
GAREM21May 23, 2017
GARS12Nov 14, 2018
GATA11Nov 14, 2018
GATA26Nov 14, 2018
GATA41Nov 14, 2018
GATA62Nov 14, 2018
GATAD11Nov 14, 2018
GBA7Nov 14, 2018
GBE14Nov 14, 2018
GCDH12Nov 14, 2018
GCK6Nov 14, 2018
GCSH1Nov 14, 2018
GDAP12Nov 14, 2018
GFAP1Nov 14, 2018
GFM12Nov 14, 2018
GH-LCR11Nov 14, 2018
GHR1Nov 14, 2018
GIPC31Nov 14, 2018
GJA51Nov 14, 2018
GJB13Nov 14, 2018
GJB220Nov 14, 2018
GJB31Nov 14, 2018
GJB62Nov 14, 2018
GJC21Nov 14, 2018
GLA5Nov 14, 2018
GLB15Nov 14, 2018
GLDC5Nov 14, 2018
GLE11Nov 14, 2018
GLI21Nov 14, 2018
GLI33Nov 14, 2018
GLIS21Nov 14, 2018
GLRA13Nov 14, 2018
GML1Nov 14, 2018
GMPPB2Nov 14, 2018
GNAO13Nov 14, 2018
GNAS2Nov 14, 2018
GNE7Nov 14, 2018
GNPTAB9Nov 14, 2018
GNPTG1Nov 14, 2018
GNRHR1Nov 14, 2018
GP91Nov 14, 2018
GPC31Nov 14, 2018
GPR1791Nov 14, 2018
GPSM21Nov 14, 2018
GRIA31Nov 14, 2018
GRIN11Nov 14, 2018
GRIN2A3Nov 14, 2018
GRM11Nov 14, 2018
GRN3Nov 14, 2018
GSN1Nov 14, 2018
GUCY2D1Nov 14, 2018
GUSB3Nov 14, 2018
GYG11Nov 14, 2018
GYS24Nov 14, 2018
HADH3Nov 14, 2018
HADHA3Nov 14, 2018
HADHB1Nov 14, 2018
HAX11Nov 14, 2018
HBB11Nov 14, 2018
HCFC12Nov 14, 2018
HCN11Nov 14, 2018
HCN44Nov 14, 2018
HEPACAM1Nov 14, 2018
HERC21Nov 14, 2018
HESX11Nov 14, 2018
HEXA5Nov 14, 2018
HEXB3Nov 14, 2018
HFE2Nov 14, 2018
HFE-AS12Nov 14, 2018
HGD2Nov 14, 2018
HGSNAT3Nov 14, 2018
HK11Nov 14, 2018
HLCS2Nov 14, 2018
HMBS1Nov 14, 2018
HMGCL2Nov 14, 2018
HNF1A5Nov 14, 2018
HNF4A3Nov 14, 2018
HNRNPK1Nov 14, 2018
HNRNPU2Nov 14, 2018
HNRNPU-AS11Nov 14, 2018
HNRNPUL2-BSCL21Nov 14, 2018
HOGA12Nov 14, 2018
HOXB134Nov 14, 2018
HPRT11Nov 14, 2018
HPS51Nov 14, 2018
HRAS4Nov 14, 2018
HSD17B101Nov 14, 2018
HSD17B42Nov 14, 2018
HSPB11Nov 14, 2018
HSPB81Nov 14, 2018
HSPG25Nov 14, 2018
HUWE12Nov 14, 2018
IDUA3Nov 14, 2018
IFIH12Nov 14, 2018
IFITM51Nov 14, 2018
IFT802Nov 14, 2018
IGHMBP25Nov 14, 2018
IL2RG1Nov 14, 2018
IL7R2Nov 14, 2018
ILDR11Nov 14, 2018
IMPDH11Nov 14, 2018
INSL61Nov 14, 2018
INSR4Nov 14, 2018
INVS3Nov 14, 2018
IQSEC22Nov 14, 2018
IRF61Nov 14, 2018
IRF81Nov 14, 2018
ITGA74Nov 14, 2018
ITPR12Nov 14, 2018
IVD4Nov 14, 2018
JAG14Nov 14, 2018
JAK21Nov 14, 2018
JPH26Nov 14, 2018
JUP2Nov 14, 2018
KANSL11Nov 14, 2018
KCNA11Nov 14, 2018
KCNA21Nov 14, 2018
KCNA52Nov 14, 2018
KCNB11Nov 14, 2018
KCNC11Nov 14, 2018
KCNC31Nov 14, 2018
KCNE11Nov 14, 2018
KCNH213Nov 14, 2018
KCNH51Nov 14, 2018
KCNJ11Nov 14, 2018
KCNJ104Nov 14, 2018
KCNJ113Nov 14, 2018
KCNJ21Nov 14, 2018
KCNMA11Nov 14, 2018
KCNQ115Nov 14, 2018
KCNQ1-AS12Nov 14, 2018
KCNQ210Nov 14, 2018
KCNQ37Nov 14, 2018
KCNQ42Nov 14, 2018
KCNT14Nov 14, 2018
KCTD171Nov 14, 2018
KCTD71Nov 14, 2018
KDM3B1Jul 27, 2020
KDM5C1Nov 14, 2018
KIF111Nov 14, 2018
KIF1A12Nov 14, 2018
KIF1B1Nov 14, 2018
KIF21A1Nov 14, 2018
KIF221Nov 14, 2018
KIF76Nov 14, 2018
KIRREL32Nov 14, 2018
KIT11Nov 14, 2018
KLLN4Nov 14, 2018
KMT2A1Nov 14, 2018
KMT2D12Nov 14, 2018
KNL11Nov 14, 2018
KPNA71Nov 14, 2018
KRAS1Nov 14, 2018
KRIT11Nov 14, 2018
KRT101Nov 14, 2018
KRT161Nov 14, 2018
KRT51Nov 14, 2018
KRT91Nov 14, 2018
L2HGDH2Nov 14, 2018
LAMA225Nov 14, 2018
LAMA31Nov 14, 2018
LAMA44Nov 14, 2018
LAMB22Nov 14, 2018
LAMB34Nov 14, 2018
LAMC35Nov 14, 2018
LARGE13Nov 14, 2018
LARS21Nov 14, 2018
LBR1Nov 14, 2018
LDB34Nov 14, 2018
LDLR15Nov 14, 2018
LDLRAP11Nov 14, 2018
LGI13Nov 14, 2018
LHCGR1Nov 14, 2018
LHX32Nov 14, 2018
LIFR2Nov 14, 2018
LIG43Nov 14, 2018
LIPA2Nov 14, 2018
LIPT11Nov 14, 2018
LIX1L-AS11Nov 14, 2018
LMNA5Nov 14, 2018
LMX1B2Nov 14, 2018
LOC1005055491Nov 14, 2018
LOC1005073463Nov 14, 2018
LOC1019270551Nov 14, 2018
LOC1019278703Nov 14, 2018
LOC1019280081Nov 14, 2018
LOC1027236921Nov 14, 2018
LOC1027240589Nov 14, 2018
LOC1053710493Nov 14, 2018
LOC1053715662Nov 14, 2018
LOC1060293121Nov 14, 2018
LOC10609906210Nov 14, 2018
LOC1066279816Nov 14, 2018
LOC1067808006Nov 14, 2018
LOC1067998332Nov 14, 2018
LOC10713351011Nov 14, 2018
LOC1073033384Nov 14, 2018
LOC1073033403Nov 14, 2018
LOC1073033431Nov 14, 2018
LOC1079822341Nov 14, 2018
LOC1091159641Nov 14, 2018
LOC1095047251Nov 14, 2018
LOC1100063192Nov 14, 2018
LOC1101212693Nov 14, 2018
LOC1101212882Nov 14, 2018
LOC1101214861Nov 14, 2018
LOC1108062632Nov 14, 2018
LOC1116744722Nov 14, 2018
LOC1116744754Nov 14, 2018
LOC1124862231Nov 14, 2018
LOC1136338771Nov 14, 2018
LOC1136641061Nov 14, 2018
LOC1139606111Nov 14, 2018
LOC1148278271Nov 14, 2018
LOC1148278512Nov 14, 2018
LOX1Nov 14, 2018
LOXHD15Nov 14, 2018
LPIN23Nov 14, 2018
LPL1Nov 14, 2018
LRBA3Nov 14, 2018
LRP23Nov 14, 2018
LRP42Nov 14, 2018
LRP4-AS12Nov 14, 2018
LRP52Nov 14, 2018
LRPPRC4Nov 14, 2018
LRRC564Nov 14, 2018
LRRK21Nov 14, 2018
LRSAM11Nov 14, 2018
LYST6Nov 14, 2018
LZTR14Nov 14, 2018
MAGEL23Nov 14, 2018
MAGI21May 23, 2017
MAN1B12Nov 14, 2018
MANBA1Nov 14, 2018
MAP2K14Nov 14, 2018
MAP2K23Nov 14, 2018
MAPT4Nov 14, 2018
MARS11Nov 14, 2018
MARVELD22Nov 14, 2018
MAT1A2Nov 14, 2018
MAX1Nov 14, 2018
MBD57Nov 14, 2018
MC1R6Nov 14, 2018
MC4R1Nov 14, 2018
MCCC15Nov 14, 2018
MCCC23Nov 14, 2018
MCEE1Nov 14, 2018
MCPH111Nov 14, 2018
MCPH1-AS11Nov 14, 2018
MECP210Nov 14, 2018
MED124Nov 14, 2018
MED13L1Nov 14, 2018
MED232Nov 14, 2018
MED251Nov 14, 2018
MEFV8Nov 14, 2018
MEN13Nov 14, 2018
MET10Nov 14, 2018
MFF-DT8Nov 14, 2018
MFN23Nov 14, 2018
MFSD83Nov 14, 2018
MGAT21Nov 14, 2018
MIB11Nov 14, 2018
MITD11Nov 14, 2018
MKKS2Nov 14, 2018
MKS14Nov 14, 2018
MLH136Nov 14, 2018
MLH31Nov 14, 2018
MLYCD1Nov 14, 2018
MMACHC5Nov 14, 2018
MMP91Nov 14, 2018
MMUT7Nov 14, 2018
MOCS11Nov 14, 2018
MOCS21Nov 14, 2018
MOGS1Nov 14, 2018
MPI1Nov 14, 2018
MPL1Nov 14, 2018
MPV172Nov 14, 2018
MPZ4Nov 14, 2018
MRE1117Nov 14, 2018
MSH224Nov 14, 2018
MSH636Nov 14, 2018
MT-CYB1Nov 14, 2018
MT-ND42Nov 14, 2018
MT-TL12Nov 14, 2018
MTFMT1Nov 14, 2018
MTHFR1Nov 14, 2018
MTO11Nov 14, 2018
MTOR1Nov 14, 2018
MTPAP1Nov 14, 2018
MTR1Nov 14, 2018
MUS811Nov 14, 2018
MUTYH14Nov 14, 2018
MVK1Nov 14, 2018
MYBPC314Nov 14, 2018
MYH118Nov 14, 2018
MYH23Nov 14, 2018
MYH31Nov 14, 2018
MYH610Nov 14, 2018
MYH717Nov 14, 2018
MYH92Nov 14, 2018
MYHAS3Nov 14, 2018
MYL23Nov 14, 2018
MYL31Nov 14, 2018
MYL91Mar 9, 2020
MYLK7Nov 14, 2018
MYLK21Nov 14, 2018
MYO15A3Nov 14, 2018
MYO1A1Nov 14, 2018
MYO3A5Nov 14, 2018
MYO61Nov 14, 2018
MYO7A19Nov 14, 2018
MYOM13Nov 14, 2018
MYOT2Nov 14, 2018
MYOZ21May 23, 2017
MYPN5Nov 14, 2018
NAGA2Nov 14, 2018
NAGLU3Nov 14, 2018
NALCN1Nov 14, 2018
NBN21Nov 14, 2018
NCAPH21Nov 14, 2018
NCF11Nov 14, 2018
NDE110Nov 14, 2018
NDST13Nov 14, 2018
NDUFA111Nov 14, 2018
NDUFAF51Nov 14, 2018
NDUFB111Nov 14, 2018
NDUFB31Nov 14, 2018
NDUFS82Nov 14, 2018
NDUFV14Nov 14, 2018
NEB12Nov 14, 2018
NEBL2May 23, 2017
NEFL2Nov 14, 2018
NEK12Nov 14, 2018
NEK81Nov 14, 2018
NEXN1Nov 14, 2018
NF139Nov 14, 2018
NF24Nov 14, 2018
NFIA1Nov 14, 2018
NGF1Nov 14, 2018
NGF-AS11Nov 14, 2018
NGLY16Nov 14, 2018
NHS2Nov 14, 2018
NIP71Nov 14, 2018
NIPBL4Nov 14, 2018
NLRP33Nov 14, 2018
NMNAT11Nov 14, 2018
NOD21Nov 14, 2018
NOTCH115Nov 14, 2018
NOTCH22Nov 14, 2018
NOTCH37Nov 14, 2018
NPC122Nov 14, 2018
NPC23Nov 14, 2018
NPHP13Nov 14, 2018
NPHP36Nov 14, 2018
NPHP3-ACAD117Nov 14, 2018
NPHP3-AS11Nov 14, 2018
NPHP412Nov 14, 2018
NPHS14Nov 14, 2018
NPHS23Nov 14, 2018
NPPA1Nov 14, 2018
NPPA-AS11Nov 14, 2018
NR0B11Nov 14, 2018
NR2E32Nov 14, 2018
NRXN116Nov 14, 2018
NSD17Nov 14, 2018
NSUN61Nov 14, 2018
NTHL11Nov 14, 2018
NTRK13Nov 14, 2018
OBSL11Nov 14, 2018
OCA27Nov 14, 2018
ODAD13Nov 14, 2018
OFD12Nov 14, 2018
OPA11Nov 14, 2018
OPA1-AS11Nov 14, 2018
OPHN11Nov 14, 2018
ORAI11Nov 14, 2018
OTC2Nov 14, 2018
OTOA3Nov 14, 2018
OTOF3Nov 14, 2018
OTOG4Nov 14, 2018
OTOGL1Nov 14, 2018
P3H14Nov 14, 2018
P3H21Nov 14, 2018
PACS11May 23, 2017
PACS21Nov 14, 2018
PAH39Nov 14, 2018
PALB226Nov 14, 2018
PANK21Nov 14, 2018
PAX32Nov 14, 2018
PAX62Nov 14, 2018
PC3Nov 14, 2018
PCARE1Nov 14, 2018
PCCB4Nov 14, 2018
PCDH156Nov 14, 2018
PCDH192Nov 14, 2018
PCNT18Nov 14, 2018
PDE6A1Nov 14, 2018
PDGFRA6Nov 14, 2018
PDHX3Nov 14, 2018
PDSS21Nov 14, 2018
PDZD71Nov 14, 2018
PEX17Nov 14, 2018
PEX103Nov 14, 2018
PEX122Nov 14, 2018
PEX131Nov 14, 2018
PEX141Nov 14, 2018
PEX162Nov 14, 2018
PEX191Nov 14, 2018
PEX21Nov 14, 2018
PEX262Nov 14, 2018
PEX62Nov 14, 2018
PEX75Nov 14, 2018
PFKM1Nov 14, 2018
PGBD31Nov 14, 2018
PGK12Nov 14, 2018
PHC11Nov 14, 2018
PHEX3Nov 14, 2018
PHF31Nov 14, 2018
PHKB1Nov 14, 2018
PHOX2B2Nov 14, 2018
PHOX2B-AS11Nov 14, 2018
PHYH1Nov 14, 2018
PIEZO21Nov 14, 2018
PIGA1Nov 14, 2018
PIGL2Nov 14, 2018
PIGO3Nov 14, 2018
PIGV4Nov 14, 2018
PIK3CA3Nov 14, 2018
PIK3CD1Nov 14, 2018
PIK3R12Nov 14, 2018
PIK3R21Nov 14, 2018
PINK11Nov 14, 2018
PJVK1Nov 14, 2018
PKD112Nov 14, 2018
PKD24Nov 14, 2018
PKHD129Nov 14, 2018
PKLR4Nov 14, 2018
PKP25Nov 14, 2018
PLA2G69Nov 14, 2018
PLCB14Nov 14, 2018
PLEC13Nov 14, 2018
PLEKHG51Nov 14, 2018
PLG1Nov 14, 2018
PLOD12Nov 14, 2018
PMM29Nov 14, 2018
PMP222Nov 14, 2018
PMS235Nov 14, 2018
PNKP9Nov 14, 2018
PNP1Nov 14, 2018
PNPLA21Nov 14, 2018
PNPLA61Nov 14, 2018
PNPT11Nov 14, 2018
POLD130Nov 14, 2018
POLE47Nov 14, 2018
POLG31Nov 14, 2018
POLR2F1Nov 14, 2018
POLR3B3Nov 14, 2018
POLR3H1Nov 14, 2018
POMGNT18Nov 14, 2018
POMT19Nov 14, 2018
POMT24Nov 14, 2018
PON32Nov 14, 2018
POT11Nov 14, 2018
POU1F11Nov 14, 2018
PPP2R1A1Nov 14, 2018
PPT14Nov 14, 2018
PRDM163Nov 14, 2018
PRICKLE14Nov 14, 2018
PRKAG22Nov 14, 2018
PRKAR1A1Nov 14, 2018
PRKAR1B1Nov 14, 2018
PRKCD1Nov 14, 2018
PRKN1Nov 14, 2018
PRMT71Nov 14, 2018
PROM13Nov 14, 2018
PROP11Nov 14, 2018
PRRT22Nov 14, 2018
PRSS12Nov 14, 2018
PRSS121Nov 14, 2018
PRSS231Nov 14, 2018
PRX2Nov 14, 2018
PSEN12Nov 14, 2018
PSEN21Nov 14, 2018
PSMB81Nov 14, 2018
PTCH121Nov 14, 2018
PTCH24Nov 14, 2018
PTCHD1-AS1Nov 14, 2018
PTEN19Nov 14, 2018
PTF1A1Nov 14, 2018
PTPN1120Nov 14, 2018
PTPRQ1Nov 14, 2018
PUS101Nov 14, 2018
PYCR11Nov 14, 2018
PYCR21Nov 14, 2018
PYGL3Nov 14, 2018
PYGM8Nov 14, 2018
QARS12Nov 14, 2018
RAB231Nov 14, 2018
RAB33A1Nov 14, 2018
RAB3GAP22Nov 14, 2018
RAD211Nov 14, 2018
RAD5032Nov 14, 2018
RAD51C8Nov 14, 2018
RAD51D9Nov 14, 2018
RAD51L3-RFFL9Nov 14, 2018
RAF15Nov 14, 2018
RAG12Nov 14, 2018
RAG21Nov 14, 2018
RAI14Nov 14, 2018
RANBP21Nov 14, 2018
RANGRF1Nov 14, 2018
RAPSN3Nov 14, 2018
RARB1Nov 14, 2018
RARS25Nov 14, 2018
RASA12Nov 14, 2018
RB16Nov 14, 2018
RBFOX13Nov 14, 2018
RBFOX32Nov 14, 2018
RBM207Nov 14, 2018
RBM8A1Nov 14, 2018
RECQL437Nov 14, 2018
RELN32Nov 14, 2018
RET19Nov 14, 2018
RFT12Nov 14, 2018
RFX61Nov 14, 2018
RHO1Nov 14, 2018
RIF14Nov 14, 2018
RIT15Nov 14, 2018
RMRP3Nov 14, 2018
RNASEH2A2Nov 14, 2018
RNASEH2B2Nov 14, 2018
RNASEH2C1Nov 14, 2018
RNF1251Nov 14, 2018
RNF171Nov 14, 2018
RP11Nov 14, 2018
RP1L11Nov 14, 2018
RPE651Nov 14, 2018
RPGRIP13Nov 14, 2018
RPGRIP1L9Nov 14, 2018
RPL36A-HNRNPH25Nov 14, 2018
RPL52Nov 14, 2018
RPS6KA31Nov 14, 2018
RS11Nov 14, 2018
RSPH11Nov 14, 2018
RTEL12Nov 14, 2018
RTEL1-TNFRSF6B2Nov 14, 2018
RUNX12Nov 14, 2018
RXYLT11Nov 14, 2018
RYR123Nov 14, 2018
RYR214Nov 14, 2018
RYR33Nov 14, 2018
SACS14Nov 14, 2018
SAMHD11Nov 14, 2018
SATB22Nov 14, 2018
SBDS1Nov 14, 2018
SBF11Nov 14, 2018
SBF21Nov 14, 2018
SCARB22Nov 14, 2018
SCN10A11Nov 14, 2018
SCN11A1Nov 14, 2018
SCN1A18Nov 14, 2018
SCN1A-AS110Nov 14, 2018
SCN1B5Nov 14, 2018
SCN2A11Nov 14, 2018
SCN3A3Nov 14, 2018
SCN4A17Nov 14, 2018
SCN5A18Nov 14, 2018
SCN8A4Nov 14, 2018
SCN9A13Nov 14, 2018
SCNN1G1Nov 14, 2018
SCO21Nov 14, 2018
SDCCAG82Nov 14, 2018
SDHA19Nov 14, 2018
SDHB8Nov 14, 2018
SDHC1Nov 14, 2018
SDHD3Nov 14, 2018
SELENON1Nov 14, 2018
SEPTIN91Nov 14, 2018
SERPINA13Nov 14, 2018
SERPINB61Nov 14, 2018
SERPINB71Nov 14, 2018
SERPINH11Nov 14, 2018
SETBP11Nov 14, 2018
SETD24Nov 14, 2018
SETX8Nov 14, 2018
SGCA2Nov 14, 2018
SGCD1May 23, 2017
SGCG1Nov 14, 2018
SGSH3Nov 14, 2018
SH2B31Nov 14, 2018
SH3BP21Nov 14, 2018
SH3PXD2B2Nov 14, 2018
SH3TC24Nov 14, 2018
SHANK21Nov 14, 2018
SHANK31Nov 14, 2018
SHOC22Nov 14, 2018
SIK14Nov 14, 2018
SIX11Nov 14, 2018
SIX31Nov 14, 2018
SIX61Nov 14, 2018
SKI6Nov 14, 2018
SLC10A22Nov 14, 2018
SLC12A12Nov 14, 2018
SLC12A38Nov 14, 2018
SLC12A54Nov 14, 2018
SLC13A52Nov 14, 2018
SLC16A21Nov 14, 2018
SLC17A54Nov 14, 2018
SLC19A21Nov 14, 2018
SLC19A31Nov 14, 2018
SLC1A31Nov 14, 2018
SLC22A58Nov 14, 2018
SLC25A121Nov 14, 2018
SLC25A131Nov 14, 2018
SLC25A151Nov 14, 2018
SLC25A192Nov 14, 2018
SLC25A222Nov 14, 2018
SLC25A241Nov 14, 2018
SLC25A351Nov 14, 2018
SLC26A11Nov 14, 2018
SLC26A23Nov 14, 2018
SLC26A416Nov 14, 2018
SLC26A4-AS11Nov 14, 2018
SLC29A31Nov 14, 2018
SLC2A15Nov 14, 2018
SLC2A102Nov 14, 2018
SLC2A22Nov 14, 2018
SLC34A11Nov 14, 2018
SLC35A21Nov 14, 2018
SLC35C11Nov 14, 2018
SLC3A11May 23, 2017
SLC40A11Nov 14, 2018
SLC45A21Nov 14, 2018
SLC46A11Nov 14, 2018
SLC4A11Nov 14, 2018
SLC5A72Nov 14, 2018
SLC6A13Nov 14, 2018
SLC6A1-AS11Nov 14, 2018
SLC6A191Nov 14, 2018
SLC6A32Nov 14, 2018
SLC6A81Nov 14, 2018
SLC7A91Nov 14, 2018
SLC9A3R11Nov 14, 2018
SLX418Nov 14, 2018
SMAD31Nov 14, 2018
SMAD49Nov 14, 2018
SMARCA21Nov 14, 2018
SMARCA421Nov 14, 2018
SMARCAL12Nov 14, 2018
SMARCE11Nov 14, 2018
SMC1A1Nov 14, 2018
SMC31Nov 14, 2018
SMPD13Nov 14, 2018
SNHG142Nov 14, 2018
SNTA11Nov 14, 2018
SOBP2Nov 14, 2018
SOD12Nov 14, 2018
SOS111Nov 14, 2018
SOS22Nov 14, 2018
SOX101Nov 14, 2018
SPAG12Nov 14, 2018
SPART1Nov 14, 2018
SPAST2Nov 14, 2018
SPATA223Nov 14, 2018
SPATA52Nov 14, 2018
SPEG1Nov 14, 2018
SPG116Nov 14, 2018
SPG74Nov 14, 2018
SPINK11Nov 14, 2018
SPR1Nov 14, 2018
SPTAN16Nov 14, 2018
SPTBN21Nov 14, 2018
SPTLC15Nov 14, 2018
SRCAP2Nov 14, 2018
SRFBP11Nov 14, 2018
SRPX22Nov 14, 2018
ST3GAL33Nov 14, 2018
ST3GAL42Nov 14, 2018
ST3GAL51Nov 14, 2018
STAC31Nov 14, 2018
STAR1Nov 14, 2018
STIL5Nov 14, 2018
STING11Nov 14, 2018
STK117Nov 14, 2018
STON1-GTF2A1L1Nov 14, 2018
STRC1Nov 14, 2018
STX111Nov 14, 2018
STXBP13Nov 14, 2018
SUCLG12Nov 14, 2018
SUFU5Nov 14, 2018
SUGCT1Nov 14, 2018
SULF11Nov 14, 2018
SUMF11Nov 14, 2018
SURF11Nov 14, 2018
SYCE22Nov 14, 2018
SYN11Nov 14, 2018
SYNE114Nov 14, 2018
SYNE22Nov 14, 2018
SYNGAP14Nov 14, 2018
SZT27Nov 14, 2018
TAB21Nov 14, 2018
TACR31Nov 14, 2018
TBC1D242Nov 14, 2018
TBCD1Nov 14, 2018
TBCEL-TECTA1Nov 14, 2018
TBCK1Nov 14, 2018
TBX11Nov 14, 2018
TBX201Nov 14, 2018
TBX51Nov 14, 2018
TCAP1Nov 14, 2018
TCIRG16Nov 14, 2018
TCTN11Nov 14, 2018
TCTN21Nov 14, 2018
TECTA1Nov 14, 2018
TELO21Nov 14, 2018
TERT6Nov 14, 2018
TFR21Nov 14, 2018
TG1Nov 14, 2018
TGDS1Nov 14, 2018
TGFB22Nov 14, 2018
TGFB31Nov 14, 2018
TGFBR12Nov 14, 2018
TGFBR28Nov 14, 2018
TGM15Nov 14, 2018
TH6Nov 14, 2018
TH2-LCR1Nov 14, 2018
TH2LCRR2Nov 14, 2018
THAP11Nov 14, 2018
TIGD11Nov 14, 2018
TJP22Nov 14, 2018
TK22Nov 14, 2018
TMC11Nov 14, 2018
TMEM1272Nov 14, 2018
TMEM2163Nov 14, 2018
TMEM2312Nov 14, 2018
TMEM431Nov 14, 2018
TMEM675Nov 14, 2018
TMEM991Nov 14, 2018
TMPRSS33Nov 14, 2018
TNFRSF11A1Nov 14, 2018
TNNI32Nov 14, 2018
TNNT21Nov 14, 2018
TP5310Nov 14, 2018
TPP113Nov 14, 2018
TPRN1Nov 14, 2018
TRAPPC111Nov 14, 2018
TRAPPC96Nov 14, 2018
TRB2Nov 14, 2018
TREX13Nov 14, 2018
TRIM321Nov 14, 2018
TRIM59-IFT802Nov 14, 2018
TRIOBP4Nov 14, 2018
TRMT10A1Nov 14, 2018
TRPM12Nov 14, 2018
TRPM41Nov 14, 2018
TRPV46Nov 14, 2018
TSC17Nov 14, 2018
TSC220Nov 14, 2018
TSEN23Nov 14, 2018
TSEN341Nov 14, 2018
TSEN543Nov 14, 2018
TSPAN16Nov 14, 2018
TSPAN311Nov 14, 2018
TTBK21Nov 14, 2018
TTC21B2Nov 14, 2018
TTC21B-AS11Nov 14, 2018
TTC371Nov 14, 2018
TTC82Nov 14, 2018
TTN125Nov 14, 2018
TTN-AS183Nov 14, 2018
TTPA1Nov 14, 2018
TTR4Nov 14, 2018
TUBA1A1Nov 14, 2018
TUBA82Nov 14, 2018
TUBB2A1Nov 14, 2018
TUBB31Nov 14, 2018
TUBB4A1Nov 14, 2018
TUBGCP61Nov 14, 2018
TWIST11Nov 14, 2018
TYMP2Nov 14, 2018
TYR14Nov 14, 2018
UBA51Nov 14, 2018
UBE3A2Nov 14, 2018
UCP21Nov 14, 2018
UGT1A4Nov 14, 2018
UGT1A14Nov 14, 2018
UGT1A104Nov 14, 2018
UGT1A34Nov 14, 2018
UGT1A44Nov 14, 2018
UGT1A54Nov 14, 2018
UGT1A64Nov 14, 2018
UGT1A74Nov 14, 2018
UGT1A84Nov 14, 2018
UGT1A94Nov 14, 2018
UNC13D2Nov 14, 2018
UNC803Nov 14, 2018
UPB14Nov 14, 2018
UQCRQ1Nov 14, 2018
UROC11Nov 14, 2018
USH1C2Nov 14, 2018
USH2A24Nov 14, 2018
USH2A-AS11Nov 14, 2018
USH2A-AS21Nov 14, 2018
USP9X1Nov 14, 2018
VCL2Nov 14, 2018
VHL7Nov 14, 2018
VIPAS391Nov 14, 2018
VLDLR2Nov 14, 2018
VPS13A3Nov 14, 2018
VPS13B26Nov 14, 2018
VPS33B1Nov 14, 2018
VRK12Nov 14, 2018
VWF4Nov 14, 2018
WAS1Nov 14, 2018
WASHC51Nov 14, 2018
WDPCP2Nov 14, 2018
WDR625Nov 14, 2018
WDR811Nov 14, 2018
WFS115Nov 14, 2018
WNK11Nov 14, 2018
WNT10A2Nov 14, 2018
WRN10Nov 14, 2018
WT12Nov 14, 2018
WWOX6Nov 14, 2018
XIAP1Nov 14, 2018
XPA3Nov 14, 2018
XPC3Nov 14, 2018
XRCC22Nov 14, 2018
XYLT11Nov 14, 2018
YARS11Nov 14, 2018
ZC4H21Nov 14, 2018
ZDHHC242Nov 14, 2018
ZDHHC91Nov 14, 2018
ZEB24Nov 14, 2018
ZFYVE266Nov 14, 2018
ZMYND101Nov 14, 2018
ZNF2763Nov 14, 2018
ZNF46911Nov 14, 2018
ZNF5131Nov 14, 2018

Condition

NameSubmissionsLast Updated
1q21.1 recurrent microdeletion1Nov 14, 2018
22q13.3 deletion syndrome1Nov 14, 2018
3 Methylcrotonyl-CoA carboxylase 1 deficiency5Nov 14, 2018
3-Methylglutaconic aciduria type 13Nov 14, 2018
3-methylcrotonyl CoA carboxylase 2 deficiency3Nov 14, 2018
46,XY sex reversal, type 21Nov 14, 2018
ALG1-CDG2Nov 14, 2018
ALG12-congenital disorder of glycosylation1Nov 14, 2018
ALG2-CDG1Nov 14, 2018
ALG8-CDG1Nov 14, 2018
ALG9 congenital disorder of glycosylation1Nov 14, 2018
AU-KLINE SYNDROME1Nov 14, 2018
Abortive cerebellar ataxia1Nov 14, 2018
Achondrogenesis type II4Nov 14, 2018
Achondrogenesis, type IB3Nov 14, 2018
Achondroplasia9Nov 14, 2018
Achromatopsia 21Nov 14, 2018
Achromatopsia 31Nov 14, 2018
Acne inversa, familial, 32Nov 14, 2018
Acquired hemoglobin H disease5Nov 14, 2018
Acrocallosal syndrome6Nov 14, 2018
Acrocephalosyndactyly type I9Nov 14, 2018
Acrodysostosis 1 with or without hormone resistance1Nov 14, 2018
Acroleukopathy, symmetric2Nov 14, 2018
Acromicric dysplasia27Nov 14, 2018
Acute intermittent porphyria1Nov 14, 2018
Acute lymphoid leukemia21Nov 14, 2018
Acute myeloid leukemia38Nov 14, 2018
Acute neuronopathic Gaucher's disease7Nov 14, 2018
Acyl-CoA dehydrogenase family, member 9, deficiency of1Nov 14, 2018
Adams-Oliver syndrome 515Nov 14, 2018
Adenosine triphosphate, elevated, of erythrocytes4Nov 14, 2018
Adenylosuccinate lyase deficiency6Nov 14, 2018
Adrenocortical carcinoma, hereditary10Nov 14, 2018
Adrenoleukodystrophy3Nov 14, 2018
Adult hypophosphatasia7Nov 14, 2018
Adult neuronal ceroid lipofuscinosis4Nov 14, 2018
Adult polyglucosan body disease4Nov 14, 2018
Agammaglobulinemia 7, autosomal recessive2Nov 14, 2018
Age-related macular degeneration 219Nov 14, 2018
Age-related macular degeneration 59Nov 14, 2018
Age-related macular degeneration 91Nov 14, 2018
Aicardi Goutieres syndrome 13Nov 14, 2018
Aicardi Goutieres syndrome 22Nov 14, 2018
Aicardi Goutieres syndrome 31Nov 14, 2018
Aicardi Goutieres syndrome 42Nov 14, 2018
Aicardi Goutieres syndrome 51Nov 14, 2018
Aicardi-Goutieres syndrome 61Nov 14, 2018
Aicardi-Goutieres syndrome 72Nov 14, 2018
Alagille syndrome 14Nov 14, 2018
Alagille syndrome 22Nov 14, 2018
Albinism, ocular, with sensorineural deafness14Nov 14, 2018
Alexander Disease1Nov 14, 2018
Alkaptonuria2Nov 14, 2018
Allan-Herndon-Dudley syndrome1Nov 14, 2018
Alpha thalassemia-X-linked intellectual disability syndrome5Nov 14, 2018
Alpha-1-antitrypsin deficiency3Nov 14, 2018
Alpha-B crystallinopathy1Nov 14, 2018
Alpha-N-acetylgalactosaminidase deficiency type 12Nov 14, 2018
Alpha-N-acetylgalactosaminidase deficiency type 22Nov 14, 2018
Alpha-methylacyl-CoA racemase deficiency2Nov 14, 2018
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity2Nov 14, 2018
Alport syndrome 1, X-linked recessive1Nov 14, 2018
Alport syndrome 3, autosomal dominant8Nov 14, 2018
Alport syndrome, autosomal recessive10Nov 14, 2018
Alstrom syndrome12Nov 14, 2018
Alternating hemiplegia of childhood 19Nov 14, 2018
Alternating hemiplegia of childhood 24Nov 14, 2018
Alveolar rhabdomyosarcoma (disease)2Nov 14, 2018
Alzheimer disease2Nov 14, 2018
Alzheimer disease, type 32Nov 14, 2018
Alzheimer disease, type 41Nov 14, 2018
Amelogenesis imperfecta, type IA4Nov 14, 2018
Amish lethal microcephaly2Nov 14, 2018
Amyloidogenic transthyretin amyloidosis4Nov 14, 2018
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1Nov 14, 2018
Amyotrophic lateral sclerosis type 15Nov 14, 2018
Amyotrophic lateral sclerosis type 111Nov 14, 2018
Amyotrophic lateral sclerosis type 23Nov 14, 2018
Amyotrophic lateral sclerosis type 48Nov 14, 2018
Amyotrophic lateral sclerosis type 56Nov 14, 2018
Amyotrophic lateral sclerosis, susceptibility to, 242Nov 14, 2018
Amyotrophy, hereditary neuralgic1Nov 14, 2018
Anauxetic dysplasia 13Nov 14, 2018
Andersen Tawil syndrome1Nov 14, 2018
Androgen resistance syndrome2Nov 14, 2018
Anemia without thromobocytopenia, X-linked1Nov 14, 2018
Anemia, nonspherocytic hemolytic, due to G6PD deficiency7Nov 14, 2018
Angelman syndrome2Nov 14, 2018
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps3Nov 14, 2018
Aniridia 14Nov 14, 2018
Anophthalmia/microphthalmia-esophageal atresia syndrome1Nov 14, 2018
Anterior segment dysgenesis 31Nov 14, 2018
Anterior segment dysgenesis 62Nov 14, 2018
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis9Nov 14, 2018
Aortic aneurysm, familial thoracic 101Nov 14, 2018
Aortic aneurysm, familial thoracic 48Nov 14, 2018
Aortic aneurysm, familial thoracic 61Nov 14, 2018
Aortic aneurysm, familial thoracic 77Nov 14, 2018
Aortic valve disorder15Nov 14, 2018
Aplastic anemia28Nov 14, 2018
Arginase deficiency2Nov 14, 2018
Argininosuccinate lyase deficiency3Nov 14, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 112Nov 14, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 122Nov 14, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 51Nov 14, 2018
Arrhythmogenic right ventricular dysplasia 87Nov 14, 2018
Arrhythmogenic right ventricular dysplasia 95Nov 14, 2018
Arrhythmogenic right ventricular dysplasia, familial 11Nov 14, 2018
Arrhythmogenic right ventricular dysplasia, familial, 132Nov 14, 2018
Arrhythmogenic right ventricular dysplasia, familial, 214Nov 14, 2018
Arterial tortuosity syndrome2Nov 14, 2018
Arthrogryposis, distal, with impaired proprioception and touch1Nov 14, 2018
Arthrogryposis, renal dysfunction, and cholestasis 11Nov 14, 2018
Arthrogryposis, renal dysfunction, and cholestasis 21Nov 14, 2018
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1Nov 14, 2018
Asparagine synthetase deficiency1Nov 14, 2018
Aspartylglucosaminuria1Nov 14, 2018
Asphyxiating thoracic dystrophy 22Nov 14, 2018
Asphyxiating thoracic dystrophy 42Nov 14, 2018
Ataxia, spastic, 4, autosomal recessive1Nov 14, 2018
Ataxia-hypogonadism-choroidal dystrophy syndrome1Nov 14, 2018
Ataxia-oculomotor apraxia 49Nov 14, 2018
Ataxia-telangiectasia syndrome101Nov 14, 2018
Ataxia-telangiectasia-like disorder 117Nov 14, 2018
Atelosteogenesis type 12Nov 14, 2018
Atelosteogenesis type II3Nov 14, 2018
Atelosteogenesis type III2Nov 14, 2018
Atrial fibrillation, familial, 1018Nov 14, 2018
Atrial fibrillation, familial, 111Nov 14, 2018
Atrial fibrillation, familial, 122Nov 14, 2018
Atrial fibrillation, familial, 135Nov 14, 2018
Atrial fibrillation, familial, 315Nov 14, 2018
Atrial fibrillation, familial, 61Nov 14, 2018
Atrial fibrillation, familial, 72Nov 14, 2018
Atrial fibrillation, familial, 91Nov 14, 2018
Atrial septal defect 21Nov 14, 2018
Atrial septal defect 310Nov 14, 2018
Atrial septal defect 41Nov 14, 2018
Atrial septal defect 92Nov 14, 2018
Atrial standstill 11Nov 14, 2018
Atrial standstill 21Nov 14, 2018
Atrioventricular septal defect 41Nov 14, 2018
Atrioventricular septal defect 52Nov 14, 2018
Atypical hemolytic-uremic syndrome 51Nov 14, 2018
Autism 1521Nov 14, 2018
Autism 171Nov 14, 2018
Autism, susceptibility to, 181Nov 14, 2018
Autism, susceptibility to, X-linked 310Nov 14, 2018
Autoimmune lymphoproliferative syndrome2Nov 14, 2018
Autoimmune lymphoproliferative syndrome, type III1Nov 14, 2018
Autoimmune thyroid disease 31Nov 14, 2018
Autosomal dominant distal renal tubular acidosis1Nov 14, 2018
Autosomal dominant nonsyndromic deafness 172Nov 14, 2018
Autosomal dominant nonsyndromic deafness 2A2Nov 14, 2018
Autosomal dominant nonsyndromic deafness 615Nov 14, 2018
Autosomal dominant osteopetrosis 12Nov 14, 2018
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 130Nov 14, 2018
Autosomal dominant torsion dystonia 41Nov 14, 2018
Autosomal recessive DOPA responsive dystonia6Nov 14, 2018
Autosomal recessive centronuclear myopathy3Nov 14, 2018
Autosomal recessive congenital ichthyosis 15Nov 14, 2018
Autosomal recessive congenital ichthyosis 4A1Nov 14, 2018
Autosomal recessive congenital ichthyosis 4B1Nov 14, 2018
Autosomal recessive cutis laxa type 1B2Nov 14, 2018
Autosomal recessive cutis laxa type 2B1Nov 14, 2018
Autosomal recessive cutis laxa type 3B1Nov 14, 2018
Autosomal recessive hypophosphatemic vitamin D refractory rickets1Nov 14, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2B11Nov 14, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2D2Nov 14, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2F1May 23, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2G1Nov 14, 2018
Autosomal recessive multiple pterygium syndrome1Nov 14, 2018
Autosomal recessive osteopetrosis 16Nov 14, 2018
Autosomal recessive osteopetrosis 71Nov 14, 2018
Autosomal recessive polycystic kidney disease29Nov 14, 2018
Autosomal recessive pseudohypoaldosteronism type 11Nov 14, 2018
Avascular necrosis of femoral head, primary, 26Nov 14, 2018
Avascular necrosis of the head of femur4Nov 14, 2018
Axenfeld-Rieger syndrome type 31Nov 14, 2018
B-cell expansion with NFKB and T-cell anergy1Nov 14, 2018
BCC127Nov 14, 2018
BLOOD GROUP--DIEGO SYSTEM1Nov 14, 2018
BLOOD GROUP--FROESE1Nov 14, 2018
BLOOD GROUP--SWANN SYSTEM1Nov 14, 2018
BLOOD GROUP--WALDNER TYPE1Nov 14, 2018
BLOOD GROUP--WRIGHT ANTIGEN1Nov 14, 2018
BNAR syndrome1Nov 14, 2018
Bailey-Bloch congenital myopathy1Nov 14, 2018
Baller-Gerold syndrome37Nov 14, 2018
Bannayan-Riley-Ruvalcaba syndrome3May 23, 2017
Bardet-Biedl syndrome1May 23, 2017
Bardet-Biedl syndrome 14Nov 14, 2018
Bardet-Biedl syndrome 103Nov 14, 2018
Bardet-Biedl syndrome 111Nov 14, 2018
Bardet-Biedl syndrome 122Nov 14, 2018
Bardet-Biedl syndrome 134Nov 14, 2018
Bardet-Biedl syndrome 1425Nov 14, 2018
Bardet-Biedl syndrome 152Nov 14, 2018
Bardet-Biedl syndrome 162Nov 14, 2018
Bardet-Biedl syndrome 25Nov 14, 2018
Bardet-Biedl syndrome 52Nov 14, 2018
Bardet-Biedl syndrome 62Nov 14, 2018
Bardet-Biedl syndrome 82Nov 14, 2018
Bartter syndrome, type 1, antenatal2Nov 14, 2018
Bartter syndrome, type 2, antenatal1Nov 14, 2018
Basal cell carcinoma, susceptibility to, 710Nov 14, 2018
Basel-Vanagaite-Smirin-Yosef syndrome1Nov 14, 2018
Beare-Stevenson cutis gyrata syndrome9Nov 14, 2018
Becker muscular dystrophy14Nov 14, 2018
Beckwith-Wiedemann syndrome18Nov 14, 2018
Benign familial hematuria8Nov 14, 2018
Benign familial neonatal seizures 110Nov 14, 2018
Benign familial neonatal seizures 27Nov 14, 2018
Benign recurrent intrahepatic cholestasis type 23Nov 14, 2018
Bent bone dysplasia syndrome9Nov 14, 2018
Bernard Soulier syndrome1Nov 14, 2018
Bestrophinopathy, autosomal recessive1Nov 14, 2018
Beta-D-mannosidosis1Nov 14, 2018
Beta-thalassemia, dominant inclusion body type11Nov 14, 2018
Bethlem myopathy 116Nov 14, 2018
Bethlem myopathy 210Nov 14, 2018
Bifunctional peroxisomal enzyme deficiency2Nov 14, 2018
Bile acid malabsorption, primary2Nov 14, 2018
Bilirubin, serum level of, quantitative trait locus 14Nov 14, 2018
Biotin-responsive basal ganglia disease1Nov 14, 2018
Biotinidase deficiency8Nov 14, 2018
Blau syndrome1Nov 14, 2018
Blepharocheilodontic syndrome 111Nov 14, 2018
Bloom syndrome19Nov 14, 2018
Body mass index quantitative trait locus 41Nov 14, 2018
Bone mineral density quantitative trait locus 12Nov 14, 2018
Boomerang dysplasia2Nov 14, 2018
Brachyrachia (short spine dysplasia)6Nov 14, 2018
Brain malformations and urinary tract defects1Nov 14, 2018
Brain small vessel disease 1 with or without ocular anomalies3Nov 14, 2018
Brain small vessel disease with hemorrhage3Nov 14, 2018
Branched-chain keto acid dehydrogenase kinase deficiency1Nov 14, 2018
Branchiootic syndrome1Nov 14, 2018
Branchiootic syndrome 31Nov 14, 2018
Branchiootorenal Syndrome 12Nov 14, 2018
Breast-ovarian cancer, familial 169Nov 14, 2018
Breast-ovarian cancer, familial 299Nov 14, 2018
Breast-ovarian cancer, familial 38Nov 14, 2018
Breast-ovarian cancer, familial 49Nov 14, 2018
Brittle cornea syndrome 111Nov 14, 2018
Bronchiectasis with or without elevated sweat chloride 139Nov 14, 2018
Bronchiectasis with or without elevated sweat chloride 31Nov 14, 2018
Bruck syndrome 11Nov 14, 2018
Brugada syndrome 118Nov 14, 2018
Brugada syndrome 310Nov 14, 2018
Brugada syndrome 42Nov 14, 2018
Brugada syndrome 55Nov 14, 2018
Brugada syndrome 84Nov 14, 2018
Budd-Chiari syndrome2Nov 14, 2018
Bull's eye macular dystrophy3Nov 14, 2018
Bullous ichthyosiform erythroderma1Nov 14, 2018
CHARGE association13Nov 14, 2018
CHIME syndrome2Nov 14, 2018
Café-au-lait macules with pulmonary stenosis39Nov 14, 2018
Camptodactyly-tall stature-scoliosis-hearing loss syndrome9Nov 14, 2018
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth3Nov 14, 2018
Capillary malformation-arteriovenous malformation 12Nov 14, 2018
Carcinoma of cervix9Nov 14, 2018
Carcinoma of colon80Nov 14, 2018
Carcinoma of pancreas27Nov 14, 2018
Cardiac arrhythmia1Nov 14, 2018
Cardiac arrhythmia, ankyrin B-related7Nov 14, 2018
Cardiac valvular dysplasia, X-linked8Nov 14, 2018
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1Nov 14, 2018
Cardiofaciocutaneous syndrome 19Nov 14, 2018
Cardiofaciocutaneous syndrome 21Nov 14, 2018
Cardiofaciocutaneous syndrome 34Nov 14, 2018
Cardiofaciocutaneous syndrome 43Nov 14, 2018
Cardiomyopathy, dilated, 1NN5Nov 14, 2018
Cardiomyopathy, dilated, 1u2Nov 14, 2018
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis7Nov 14, 2018
Cardiomyopathy, familial hypertrophic, 269Nov 14, 2018
Cardiovascular phenotype1Nov 14, 2018
Carney complex, type 11Nov 14, 2018
Carney-Stratakis syndrome12Nov 14, 2018
Carnitine palmitoyltransferase 1A deficiency1Nov 14, 2018
Carnitine palmitoyltransferase II deficiency, infantile12Nov 14, 2018
Carnitine palmitoyltransferase II deficiency, lethal neonatal12Nov 14, 2018
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced12Nov 14, 2018
Carpal tunnel syndrome4Nov 14, 2018
Carpenter syndrome 11Nov 14, 2018
Cataract 16, multiple types1Nov 14, 2018
Cataract 181Nov 14, 2018
Cataract 402Nov 14, 2018
Cataract 4115Nov 14, 2018
Cataract-intellectual disability-hypogonadism syndrome2Nov 14, 2018
Catecholaminergic polymorphic ventricular tachycardia type 117Nov 14, 2018
Catel Manzke syndrome1Nov 14, 2018
Cenani-Lenz syndactyly syndrome2Nov 14, 2018
Central core myopathy23Nov 14, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 12Nov 14, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21Nov 14, 2018
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome4Nov 14, 2018
Cerebellar atrophy, developmental delay, and seizures1Nov 14, 2018
Cerebral arteriovenous malformation1Nov 14, 2018
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 17Nov 14, 2018
Cerebral cavernous malformation1Nov 14, 2018
Cerebral folate transport deficiency1Nov 14, 2018
Cerebrooculofacioskeletal syndrome 19Nov 14, 2018
Cerebrooculofacioskeletal syndrome 24Nov 14, 2018
Cerebrooculofacioskeletal syndrome 32Nov 14, 2018
Cerebroretinal microangiopathy with calcifications and cysts 16Nov 14, 2018
Ceroid lipofuscinosis neuronal 213Nov 14, 2018
Ceroid lipofuscinosis, neuronal, 113Nov 14, 2018
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant2Nov 14, 2018
Charcot-Marie-Tooth Neuropathy X Type 12Nov 14, 2018
Charcot-Marie-Tooth disease and deafness2Nov 14, 2018
Charcot-Marie-Tooth disease axonal type 2C6Nov 14, 2018
Charcot-Marie-Tooth disease axonal type 2F1Nov 14, 2018
Charcot-Marie-Tooth disease dominant intermediate d4Nov 14, 2018
Charcot-Marie-Tooth disease type 2B15Nov 14, 2018
Charcot-Marie-Tooth disease type 2B21Nov 14, 2018
Charcot-Marie-Tooth disease type 2D2Nov 14, 2018
Charcot-Marie-Tooth disease type 2E2Nov 14, 2018
Charcot-Marie-Tooth disease type 2I4Nov 14, 2018
Charcot-Marie-Tooth disease type 2J4Nov 14, 2018
Charcot-Marie-Tooth disease type 2K2Nov 14, 2018
Charcot-Marie-Tooth disease type 2P1Nov 14, 2018
Charcot-Marie-Tooth disease, axonal type 2V3Nov 14, 2018
Charcot-Marie-Tooth disease, axonal type 2X6Nov 14, 2018
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B3Nov 14, 2018
Charcot-Marie-Tooth disease, axonal, type 2O6Nov 14, 2018
Charcot-Marie-Tooth disease, axonal, type 2S5Nov 14, 2018
Charcot-Marie-Tooth disease, axonal, type 2u1Nov 14, 2018
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2Nov 14, 2018
Charcot-Marie-Tooth disease, demyelinating, type 1b4Nov 14, 2018
Charcot-Marie-Tooth disease, demyelinating, type 1f2Nov 14, 2018
Charcot-Marie-Tooth disease, demyelinating, type 4F2Nov 14, 2018
Charcot-Marie-Tooth disease, dominant intermediate B1Nov 14, 2018
Charcot-Marie-Tooth disease, dominant intermediate C1Nov 14, 2018
Charcot-Marie-Tooth disease, dominant intermediate G2Nov 14, 2018
Charcot-Marie-Tooth disease, recessive intermediate A2Nov 14, 2018
Charcot-Marie-Tooth disease, recessive intermediate c1Nov 14, 2018
Charcot-Marie-Tooth disease, type 2A11Nov 14, 2018
Charcot-Marie-Tooth disease, type 2A2A3Nov 14, 2018
Charcot-Marie-Tooth disease, type 2L1Nov 14, 2018
Charcot-Marie-Tooth disease, type 2N1Nov 14, 2018
Charcot-Marie-Tooth disease, type 4A2Nov 14, 2018
Charcot-Marie-Tooth disease, type 4B21Nov 14, 2018
Charcot-Marie-Tooth disease, type 4B31Nov 14, 2018
Charcot-Marie-Tooth disease, type 4C4Nov 14, 2018
Charcot-Marie-Tooth disease, type 4J1Nov 14, 2018
Charcot-Marie-Tooth disease, type 4k1Nov 14, 2018
Charcot-Marie-Tooth disease, type IA2Nov 14, 2018
Charlevoix-Saguenay spastic ataxia14Nov 14, 2018
Chilblain lupus 13Nov 14, 2018
Chilblain lupus 21Nov 14, 2018
Childhood hypophosphatasia7Nov 14, 2018
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia10Nov 14, 2018
Chitayat syndrome1Nov 14, 2018
Cholestanol storage disease5Nov 14, 2018
Cholestasis of pregnancy2Nov 14, 2018
Cholestasis, benign recurrent intrahepatic 12Nov 14, 2018
Cholestasis, intrahepatic, of pregnancy 32Nov 14, 2018
Cholestasis, progressive familial intrahepatic 12Nov 14, 2018
Cholesterol monooxygenase (side-chain cleaving) deficiency1Nov 14, 2018
Choreoacanthocytosis3Nov 14, 2018
Choroid plexus papilloma10Nov 14, 2018
Choroidal dystrophy, central areolar 11Nov 14, 2018
Choroideremia1Nov 14, 2018
Chromosome 2q32-q33 deletion syndrome2Nov 14, 2018
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11Nov 14, 2018
Chronic infantile neurological, cutaneous and articular syndrome3Nov 14, 2018
Chronic obstructive pulmonary disease3Nov 14, 2018
Chudley-McCullough syndrome1Nov 14, 2018
Chédiak-Higashi syndrome6Nov 14, 2018
Ciliary dyskinesia, primary, 101Nov 14, 2018
Ciliary dyskinesia, primary, 131Nov 14, 2018
Ciliary dyskinesia, primary, 142Nov 14, 2018
Ciliary dyskinesia, primary, 152Nov 14, 2018
Ciliary dyskinesia, primary, 171Nov 14, 2018
Ciliary dyskinesia, primary, 184Nov 14, 2018
Ciliary dyskinesia, primary, 22Nov 14, 2018
Ciliary dyskinesia, primary, 203Nov 14, 2018
Ciliary dyskinesia, primary, 212Nov 14, 2018
Ciliary dyskinesia, primary, 221Nov 14, 2018
Ciliary dyskinesia, primary, 282Nov 14, 2018
Ciliary dyskinesia, primary, 37Nov 14, 2018
Ciliary dyskinesia, primary, 78Nov 14, 2018
Ciliary dyskinesia, primary, 91Nov 14, 2018
Citrullinemia type I7Nov 14, 2018
Citrullinemia type II1Nov 14, 2018
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency7Nov 14, 2018
Classic homocystinuria13Nov 14, 2018
Cobalamin C disease5Nov 14, 2018
Cockayne syndrome B9Nov 14, 2018
Cockayne syndrome type A2Nov 14, 2018
Coenzyme Q10 deficiency, primary, 31Nov 14, 2018
Coenzyme Q10 deficiency, primary, 41Nov 14, 2018
Coenzyme Q10 deficiency, primary, 51Nov 14, 2018
Coffin-Lowry syndrome1Nov 14, 2018
Coffin-Siris syndrome 14Nov 14, 2018
Coffin-Siris syndrome 51Nov 14, 2018
Cognitive impairment with or without cerebellar ataxia4Nov 14, 2018
Cohen syndrome26Nov 14, 2018
Coloboma of optic disc2Nov 14, 2018
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Nov 14, 2018
Colorectal cancer 16Nov 14, 2018
Colorectal cancer 1030Nov 14, 2018
Colorectal cancer, susceptibility to, 1247Nov 14, 2018
Combined cellular and humoral immune defects with granulomas3Nov 14, 2018
Combined immunodeficiency due to ORAI1 deficiency1Nov 14, 2018
Combined immunodeficiency, X-linked1Nov 14, 2018
Combined malonic and methylmalonic aciduria1Nov 14, 2018
Combined oxidative phosphorylation deficiency 12Nov 14, 2018
Combined oxidative phosphorylation deficiency 101Nov 14, 2018
Combined oxidative phosphorylation deficiency 121Nov 14, 2018
Combined oxidative phosphorylation deficiency 131Nov 14, 2018
Combined oxidative phosphorylation deficiency 151Nov 14, 2018
Combined oxidative phosphorylation deficiency 61Nov 14, 2018
Common variable immunodeficiency 8, with autoimmunity3Nov 14, 2018
Complement component 3 deficiency, autosomal recessive1Nov 14, 2018
Complete trisomy 21 syndrome1Nov 14, 2018
Cone-rod dystrophy 123Nov 14, 2018
Cone-rod dystrophy 133Nov 14, 2018
Cone-rod dystrophy 319Nov 14, 2018
Cone-rod dystrophy 61Nov 14, 2018
Congenital adrenal hypoplasia, X-linked1Nov 14, 2018
Congenital amegakaryocytic thrombocytopenia1Nov 14, 2018
Congenital bilateral aplasia of vas deferens from CFTR mutation39Nov 14, 2018
Congenital bile acid synthesis defect 42Nov 14, 2018
Congenital central hypoventilation21Nov 14, 2018
Congenital contractural arachnodactyly7Nov 14, 2018
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Nov 14, 2018
Congenital defect of folate absorption1Nov 14, 2018
Congenital disorder of deglycosylation6Nov 14, 2018
Congenital disorder of glycosylation type 1C2Nov 14, 2018
Congenital disorder of glycosylation type 1N2Nov 14, 2018
Congenital disorder of glycosylation type 1u1Nov 14, 2018
Congenital disorder of glycosylation type 2B1Nov 14, 2018
Congenital disorder of glycosylation type 2H1Nov 14, 2018
Congenital disorder of glycosylation type 2L1Nov 14, 2018
Congenital disorder of glycosylation type 2i2Nov 14, 2018
Congenital disorder of glycosylation, type IIa1Nov 14, 2018
Congenital disorder of glycosylation, type Ia9Nov 14, 2018
Congenital generalized lipodystrophy type 21Nov 14, 2018
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Nov 14, 2018
Congenital heart defects, hamartomas of tongue, and polysyndactyly2Nov 14, 2018
Congenital heart defects, multiple types, 21Nov 14, 2018
Congenital hydrocephalus 14Nov 14, 2018
Congenital hyperammonemia, type I4Nov 14, 2018
Congenital hypomyelinating neuropathy 1, autosomal recessive4Nov 14, 2018
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type4Nov 14, 2018
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi3Nov 14, 2018
Congenital macrodactylia3Nov 14, 2018
Congenital muscular dystrophy, LMNA-related5Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B58Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A58Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A24Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A63Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B19Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B24Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B38Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B63Nov 14, 2018
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B45Nov 14, 2018
Congenital muscular hypertrophy-cerebral syndrome1Nov 14, 2018
Congenital myasthenic syndrome 3B3Nov 14, 2018
Congenital myasthenic syndrome 4C1Nov 14, 2018
Congenital myasthenic syndrome, acetazolamide-responsive17Nov 14, 2018
Congenital myopathy with fiber type disproportion41Nov 14, 2018
Congenital myotonia, autosomal dominant form7Nov 14, 2018
Congenital myotonia, autosomal recessive form7Nov 14, 2018
Congenital ocular coloboma2Nov 14, 2018
Congenital sensory neuropathy with selective loss of small myelinated fibers1Nov 14, 2018
Congenital stationary night blindness, autosomal dominant 11Nov 14, 2018
Congenital stationary night blindness, type 1C2Nov 14, 2018
Congenital stationary night blindness, type 1E1Nov 14, 2018
Connective tissue disease1Nov 14, 2018
Conotruncal heart malformations3Nov 14, 2018
Contractures, pterygia, and variable skeletal fusions syndrome 1A1Nov 14, 2018
Cornelia de Lange syndrome 14Nov 14, 2018
Cornelia de Lange syndrome 31Nov 14, 2018
Cornelia de Lange syndrome 41Nov 14, 2018
Corpus callosum agenesis-abnormal genitalia syndrome2Nov 14, 2018
Cortical dysplasia, complex, with other brain malformations 11Nov 14, 2018
Cortical dysplasia, complex, with other brain malformations 51Nov 14, 2018
Cortical malformations, occipital5Nov 14, 2018
Costello syndrome4Nov 14, 2018
Cowchock syndrome1Nov 14, 2018
Cowden syndrome 119Nov 14, 2018
Cowden syndrome 53Nov 14, 2018
Coxa plana4Nov 14, 2018
Craniofacial-deafness-hand syndrome2Nov 14, 2018
Craniosynostosis 11Nov 14, 2018
Craniosynostosis 41Nov 14, 2018
Creatine transporter deficiency1Nov 14, 2018
Crigler-Najjar syndrome type 14Nov 14, 2018
Crigler-Najjar syndrome, type II4Nov 14, 2018
Crouzon syndrome9Nov 14, 2018
Crouzon syndrome with acanthosis nigricans9Nov 14, 2018
Culler-Jones syndrome1Nov 14, 2018
Curry-Hall syndrome6Nov 14, 2018
Cushing's syndrome2Nov 14, 2018
Cutaneous malignant melanoma 13May 23, 2017
Cutaneous malignant melanoma 24Nov 14, 2018
Cutaneous malignant melanoma 31Nov 14, 2018
Cutaneous malignant melanoma 56Nov 14, 2018
Cutaneous malignant melanoma 96Nov 14, 2018
Cutaneous telangiectasia and cancer syndrome, familial2Nov 14, 2018
Cutis laxa with osteodystrophy4Nov 14, 2018
Cutis laxa, autosomal dominant 13Nov 14, 2018
Cutis laxa, autosomal dominant 31Nov 14, 2018
Cutis laxa, autosomal recessive IIIA1Nov 14, 2018
Cyclical neutropenia1Nov 14, 2018
Cystic fibrosis39Nov 14, 2018
Cystinuria2Nov 14, 2018
Czech dysplasia, metatarsal type4Nov 14, 2018
D-2-hydroxyglutaric aciduria 11Nov 14, 2018
DE SANCTIS-CACCHIONE SYNDROME9Nov 14, 2018
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome11Nov 14, 2018
DOORS syndrome2Nov 14, 2018
Deafness enamel hypoplasia nail defects7Nov 14, 2018
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1Nov 14, 2018
Deafness, X-linked 222Nov 14, 2018
Deafness, X-linked 51Nov 14, 2018
Deafness, autosomal dominant 12Nov 14, 2018
Deafness, autosomal dominant 1119Nov 14, 2018
Deafness, autosomal dominant 121Nov 14, 2018
Deafness, autosomal dominant 133Nov 14, 2018
Deafness, autosomal dominant 221Nov 14, 2018
Deafness, autosomal dominant 231Nov 14, 2018
Deafness, autosomal dominant 2b1Nov 14, 2018
Deafness, autosomal dominant 34, with or without inflammation3Nov 14, 2018
Deafness, autosomal dominant 361Nov 14, 2018
Deafness, autosomal dominant 3a20Nov 14, 2018
Deafness, autosomal dominant 3b2Nov 14, 2018
Deafness, autosomal dominant 401Nov 14, 2018
Deafness, autosomal dominant 652Nov 14, 2018
Deafness, autosomal dominant 731Nov 14, 2018
Deafness, autosomal recessive 1021Nov 14, 2018
Deafness, autosomal recessive 1219Nov 14, 2018
Deafness, autosomal recessive 151Nov 14, 2018
Deafness, autosomal recessive 161Nov 14, 2018
Deafness, autosomal recessive 182Nov 14, 2018
Deafness, autosomal recessive 18b4Nov 14, 2018
Deafness, autosomal recessive 1A23Nov 14, 2018
Deafness, autosomal recessive 1b2Nov 14, 2018
Deafness, autosomal recessive 219Nov 14, 2018
Deafness, autosomal recessive 211Nov 14, 2018
Deafness, autosomal recessive 223Nov 14, 2018
Deafness, autosomal recessive 236Nov 14, 2018
Deafness, autosomal recessive 284Nov 14, 2018
Deafness, autosomal recessive 33Nov 14, 2018
Deafness, autosomal recessive 305Nov 14, 2018
Deafness, autosomal recessive 36, with or without vestibular involvement1Nov 14, 2018
Deafness, autosomal recessive 371Nov 14, 2018
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct20Nov 14, 2018
Deafness, autosomal recessive 421Nov 14, 2018
Deafness, autosomal recessive 492Nov 14, 2018
Deafness, autosomal recessive 533Nov 14, 2018
Deafness, autosomal recessive 571Nov 14, 2018
Deafness, autosomal recessive 591Nov 14, 2018
Deafness, autosomal recessive 71Nov 14, 2018
Deafness, autosomal recessive 701Nov 14, 2018
Deafness, autosomal recessive 775Nov 14, 2018
Deafness, autosomal recessive 791Nov 14, 2018
Deafness, autosomal recessive 81Nov 14, 2018
Deafness, autosomal recessive 841Nov 14, 2018
Deafness, autosomal recessive 84b1Nov 14, 2018
Deafness, autosomal recessive 862Nov 14, 2018
Deafness, autosomal recessive 93Nov 14, 2018
Deafness, autosomal recessive 911Nov 14, 2018
Deafness, autosomal recessive 9710Nov 14, 2018
Deafness, congenital heart defects, and posterior embryotoxon4Nov 14, 2018
Deafness-infertility syndrome1Nov 14, 2018
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Nov 14, 2018
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3Nov 14, 2018
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase6Nov 14, 2018
Deficiency of acetyl-CoA acetyltransferase1Nov 14, 2018
Deficiency of beta-ureidopropionase4Nov 14, 2018
Deficiency of butyryl-CoA dehydrogenase4Nov 14, 2018
Deficiency of butyrylcholine esterase1Nov 14, 2018
Deficiency of ferroxidase4Nov 14, 2018
Deficiency of guanidinoacetate methyltransferase4Nov 14, 2018
Deficiency of hydroxymethylglutaryl-CoA lyase2Nov 14, 2018
Deficiency of malonyl-CoA decarboxylase1Nov 14, 2018
Deficiency of steroid 11-beta-monooxygenase2Nov 14, 2018
Deficiency of steroid 17-alpha-monooxygenase2Nov 14, 2018
Dejerine-Sottas disease8Nov 14, 2018
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency6Nov 14, 2018
Dermatitis, atopic, 23Nov 14, 2018
Desbuquois dysplasia 21Nov 14, 2018
Desmoid disease, hereditary33Nov 14, 2018
Desmosterolosis1Nov 14, 2018
Developmental and epileptic encephalopathy, 661Nov 14, 2018
Developmental delay and seizures with or without movement abnormalities1Nov 14, 2018
DiGeorge sequence1Nov 14, 2018
Diabetes mellitus AND insipidus with optic atrophy AND deafness15Nov 14, 2018
Diabetes mellitus type 15Nov 14, 2018
Diabetes mellitus, insulin-dependent, 205Nov 14, 2018
Diabetes mellitus, permanent neonatal, with cerebellar agenesis1Nov 14, 2018
Diamond-Blackfan anemia 62Nov 14, 2018
Diarrhea 5, with tufting enteropathy, congenital3Nov 14, 2018
Diarrhea 71Nov 14, 2018
Diastrophic dysplasia3Nov 14, 2018
Diets-Jongmans syndrome1Jul 27, 2020
Digital arthropathy-brachydactyly, familial6Nov 14, 2018
Dihydropyrimidine dehydrogenase deficiency6Nov 14, 2018
Dilated Cardiomyopathy, Dominant1Nov 14, 2018
Dilated cardiomyopathy 1A5Nov 14, 2018
Dilated cardiomyopathy 1AA1May 23, 2017
Dilated cardiomyopathy 1C4Nov 14, 2018
Dilated cardiomyopathy 1CC1Nov 14, 2018
Dilated cardiomyopathy 1DD7Nov 14, 2018
Dilated cardiomyopathy 1E18Nov 14, 2018
Dilated cardiomyopathy 1EE10Nov 14, 2018
Dilated cardiomyopathy 1FF2Nov 14, 2018
Dilated cardiomyopathy 1G125Nov 14, 2018
Dilated cardiomyopathy 1GG19Nov 14, 2018
Dilated cardiomyopathy 1HH6Nov 14, 2018
Dilated cardiomyopathy 1I2Nov 14, 2018
Dilated cardiomyopathy 1II1Nov 14, 2018
Dilated cardiomyopathy 1JJ4Nov 14, 2018
Dilated cardiomyopathy 1KK5Nov 14, 2018
Dilated cardiomyopathy 1L1May 23, 2017
Dilated cardiomyopathy 1M1Nov 14, 2018
Dilated cardiomyopathy 1O2Nov 14, 2018
Dilated cardiomyopathy 1S17Nov 14, 2018
Dilated cardiomyopathy 1V1Nov 14, 2018
Dilated cardiomyopathy 1W2Nov 14, 2018
Dilated cardiomyopathy 1X5Nov 14, 2018
Dilated cardiomyopathy 2A2Nov 14, 2018
Dilated cardiomyopathy 3B14Nov 14, 2018
Dilated cardiomyopathy with woolly hair and keratoderma7Nov 14, 2018
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome5Nov 14, 2018
Distal arthrogryposis type 2B1Nov 14, 2018
Distal hereditary motor neuronopathy type 2A1Nov 14, 2018
Distal hereditary motor neuronopathy type 2B1Nov 14, 2018
Distal hereditary motor neuronopathy type 53Nov 14, 2018
Distal hereditary motor neuronopathy type 7B3Nov 14, 2018
Distal myopathy, Tateyama type1Nov 14, 2018
Distal spinal muscular atrophy, autosomal recessive 41Nov 14, 2018
Distal spinal muscular atrophy, congenital nonprogressive6Nov 14, 2018
Dominant dystrophic epidermolysis bullosa with absence of skin10Nov 14, 2018
Dominant hereditary optic atrophy1Nov 14, 2018
Donnai-Barrow syndrome3Nov 14, 2018
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Nov 14, 2018
Dowling-Degos disease 11Nov 14, 2018
Drash syndrome2Nov 14, 2018
Dubin-Johnson syndrome3Nov 14, 2018
Duchenne muscular dystrophy14Nov 14, 2018
Dyskeratosis congenita, autosomal dominant 16Nov 14, 2018
Dyskeratosis congenita, autosomal dominant, 26Nov 14, 2018
Dyskeratosis congenita, autosomal recessive, 52Nov 14, 2018
Dyskinesia, familial, with facial myokymia1Nov 14, 2018
Dyskinesia, seizures, and intellectual developmental disorder1Nov 14, 2018
Dystonia 124Nov 14, 2018
Dystonia 241Nov 14, 2018
Dystonia 26, myoclonic1Nov 14, 2018
Dystonia 279Nov 14, 2018
Dystonia 94Nov 14, 2018
Dystransthyretinemic euthyroidal hyperthyroxinemia4Nov 14, 2018
EAST syndrome4Nov 14, 2018
Early infantile epileptic encephalopathy 109Nov 14, 2018
Early infantile epileptic encephalopathy 1110Nov 14, 2018
Early infantile epileptic encephalopathy 124Nov 14, 2018
Early infantile epileptic encephalopathy 134Nov 14, 2018
Early infantile epileptic encephalopathy 144Nov 14, 2018
Early infantile epileptic encephalopathy 153Nov 14, 2018
Early infantile epileptic encephalopathy 162Nov 14, 2018
Early infantile epileptic encephalopathy 173Nov 14, 2018
Early infantile epileptic encephalopathy 187Nov 14, 2018
Early infantile epileptic encephalopathy 24Nov 14, 2018
Early infantile epileptic encephalopathy 344Nov 14, 2018
Early infantile epileptic encephalopathy 43Nov 14, 2018
Early infantile epileptic encephalopathy 56Nov 14, 2018
Early infantile epileptic encephalopathy 623Nov 14, 2018
Early infantile epileptic encephalopathy 710Nov 14, 2018
Early infantile epileptic encephalopathy 81Nov 14, 2018
Early infantile epileptic encephalopathy 92Nov 14, 2018
Early myoclonic encephalopathy2Nov 14, 2018
Ectopia lentis, isolated, autosomal dominant27Nov 14, 2018
Ehlers-Danlos syndrome dermatosparaxis type3Nov 14, 2018
Ehlers-Danlos syndrome progeroid type1Nov 14, 2018
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form8Nov 14, 2018
Ehlers-Danlos syndrome, classic type12Nov 14, 2018
Ehlers-Danlos syndrome, hydroxylysine-deficient2Nov 14, 2018
Ehlers-Danlos syndrome, procollagen proteinase deficient12Nov 14, 2018
Ehlers-Danlos syndrome, progeroid type, 21Nov 14, 2018
Ehlers-Danlos syndrome, type 31May 23, 2017
Ehlers-Danlos syndrome, type 46Nov 14, 2018
Ehlers-danlos syndrome, arthrochalasia type, 28Nov 14, 2018
Eichsfeld type congenital muscular dystrophy1Nov 14, 2018
Elevated serum creatine phosphokinase1Nov 14, 2018
Ellis-van Creveld syndrome6Nov 14, 2018
Emery-Dreifuss muscular dystrophy 2, autosomal dominant5Nov 14, 2018
Emery-Dreifuss muscular dystrophy 3, autosomal recessive5Nov 14, 2018
Emery-Dreifuss muscular dystrophy 4, autosomal dominant14Nov 14, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2Nov 14, 2018
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1Nov 14, 2018
Encephalocraniocutaneous lipomatosis2Nov 14, 2018
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Nov 14, 2018
Encephalopathy, acute, infection-induced, 3, suceptibility to1Nov 14, 2018
Encephalopathy, acute, infection-induced, 4, susceptibility to12Nov 14, 2018
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum1Nov 14, 2018
Encephalopathy, progressive, with or without lipodystrophy1Nov 14, 2018
Endometrial carcinoma51Nov 14, 2018
Enhanced s-cone syndrome2Nov 14, 2018
Epidermal nevus16Nov 14, 2018
Epidermal nevus syndrome5Nov 14, 2018
Epidermolysis bullosa junctionalis with pyloric atresia13Nov 14, 2018
Epidermolysis bullosa pruriginosa10Nov 14, 2018
Epidermolysis bullosa simplex Dowling-Meara type1Nov 14, 2018
Epidermolysis bullosa simplex with migratory circinate erythema1Nov 14, 2018
Epidermolysis bullosa simplex with mottled pigmentation1Nov 14, 2018
Epidermolysis bullosa simplex with muscular dystrophy13Nov 14, 2018
Epidermolysis bullosa simplex with nail dystrophy13Nov 14, 2018
Epidermolysis bullosa simplex with pyloric atresia13Nov 14, 2018
Epidermolysis bullosa simplex, Koebner type1Nov 14, 2018
Epidermolysis bullosa simplex, Ogna type13Nov 14, 2018
Epidermolysis bullosa simplex, autosomal recessive1Nov 14, 2018
Epidermolytic palmoplantar keratoderma1Nov 14, 2018
Epilepsy with grand mal seizures on awakening1Nov 14, 2018
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Nov 14, 2018
Epilepsy, childhood absence 21Nov 14, 2018
Epilepsy, childhood absence 52Nov 14, 2018
Epilepsy, childhood absence 613Nov 14, 2018
Epilepsy, familial adult myoclonic, 53Nov 14, 2018
Epilepsy, familial focal, with variable foci 17Nov 14, 2018
Epilepsy, familial focal, with variable foci 43Nov 14, 2018
Epilepsy, familial temporal lobe, 52Nov 14, 2018
Epilepsy, familial temporal lobe, 732Nov 14, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation3Nov 14, 2018
Epilepsy, hearing loss, and mental retardation syndrome2Nov 14, 2018
Epilepsy, idiopathic generalized 101Nov 14, 2018
Epilepsy, idiopathic generalized 81Nov 14, 2018
Epilepsy, idiopathic generalized 93Nov 14, 2018
Epilepsy, idiopathic generalized, susceptibility to, 124Nov 14, 2018
Epilepsy, idiopathic generalized, susceptibility to, 144Nov 14, 2018
Epilepsy, juvenile absence, susceptibility to, 15Nov 14, 2018
Epilepsy, nocturnal frontal lobe, 54Nov 14, 2018
Epilepsy, nocturnal frontal lobe, type 14Nov 14, 2018
Epilepsy, nocturnal frontal lobe, type 32Nov 14, 2018
Epilepsy, nocturnal frontal lobe, type 42Nov 14, 2018
Epilepsy, progressive myoclonic 31Nov 14, 2018
Epilepsy, progressive myoclonic 4, with or without renal failure2Nov 14, 2018
Epilepsy, progressive myoclonic 71Nov 14, 2018
Epileptic encephalopathy7Nov 14, 2018
Epileptic encephalopathy, childhood-onset5Nov 14, 2018
Epileptic encephalopathy, early infantile, 12Nov 14, 2018
Epileptic encephalopathy, early infantile, 232Nov 14, 2018
Epileptic encephalopathy, early infantile, 241Nov 14, 2018
Epileptic encephalopathy, early infantile, 252Nov 14, 2018
Epileptic encephalopathy, early infantile, 261Nov 14, 2018
Epileptic encephalopathy, early infantile, 286Nov 14, 2018
Epileptic encephalopathy, early infantile, 291Nov 14, 2018
Epileptic encephalopathy, early infantile, 304Nov 14, 2018
Epileptic encephalopathy, early infantile, 311Nov 14, 2018
Epileptic encephalopathy, early infantile, 321Nov 14, 2018
Epileptic encephalopathy, early infantile, 331Nov 14, 2018
Epileptic encephalopathy, early infantile, 361Nov 14, 2018
Epileptic encephalopathy, early infantile, 4214Nov 14, 2018
Epileptic encephalopathy, early infantile, 432Nov 14, 2018
Epileptic encephalopathy, early infantile, 441Nov 14, 2018
Epileptic encephalopathy, early infantile, 525Nov 14, 2018
Epileptic encephalopathy, early infantile, 542Nov 14, 2018
Epileptic encephalopathy, infantile or early childhood 21Nov 14, 2018
Epiphyseal dysplasia, multiple, 22Nov 14, 2018
Epiphyseal dysplasia, multiple, 32Nov 14, 2018
Epiphyseal dysplasia, multiple, with myopia and conductive deafness4Nov 14, 2018
Episodic ataxia type 11Nov 14, 2018
Episodic ataxia type 214Nov 14, 2018
Episodic ataxia, type 53Nov 14, 2018
Episodic ataxia, type 61Nov 14, 2018
Episodic kinesigenic dyskinesia 12Nov 14, 2018
Episodic pain syndrome, familial, 211Nov 14, 2018
Episodic pain syndrome, familial, 31Nov 14, 2018
Erythrocytosis 6, familial11Nov 14, 2018
Erythrocytosis, familial, 27Nov 14, 2018
Erythrocytosis, familial, 31Nov 14, 2018
Erythroderma, ichthyosiform, congenital reticular1Nov 14, 2018
Erythrokeratodermia variabilis et progressiva 11Nov 14, 2018
Ethylmalonic encephalopathy1Nov 14, 2018
Exudative vitreoretinopathy 13Nov 14, 2018
Exudative vitreoretinopathy 42Nov 14, 2018
Exudative vitreoretinopathy 71Nov 14, 2018
FG syndrome 14Nov 14, 2018
FG syndrome 28Nov 14, 2018
FG syndrome 41Nov 14, 2018
FRAXE1Nov 14, 2018
Fabry disease5Nov 14, 2018
Facial dysmorphism, immunodeficiency, livedo, and short stature47Nov 14, 2018
Factor V deficiency1Nov 14, 2018
Factor XII deficiency disease1Nov 14, 2018
Familial Mediterranean fever8Nov 14, 2018
Familial X-linked hypophosphatemic vitamin D refractory rickets3Nov 14, 2018
Familial adenomatous polyposis 133Nov 14, 2018
Familial adenomatous polyposis 31Nov 14, 2018
Familial amyloid nephropathy with urticaria AND deafness3Nov 14, 2018
Familial atrial myxoma1Nov 14, 2018
Familial cancer of breast338Nov 14, 2018
Familial cold urticaria3Nov 14, 2018
Familial dysautonomia1Nov 14, 2018
Familial expansile osteolysis1Nov 14, 2018
Familial febrile seizures 81Nov 14, 2018
Familial hemiplegic migraine type 114Nov 14, 2018
Familial hemiplegic migraine type 29Nov 14, 2018
Familial hemiplegic migraine type 318Nov 14, 2018
Familial hemophagocytic lymphohistiocytosis 32Nov 14, 2018
Familial hemophagocytic lymphohistiocytosis 41Nov 14, 2018
Familial hypercholesterolemia 116Nov 14, 2018
Familial hypercholesterolemia 22Nov 14, 2018
Familial hypercholesterolemia 41Nov 14, 2018
Familial hyperkalemic periodic paralysis17Nov 14, 2018
Familial hypertrophic cardiomyopathy 129Nov 14, 2018
Familial hypertrophic cardiomyopathy 103Nov 14, 2018
Familial hypertrophic cardiomyopathy 121Nov 14, 2018
Familial hypertrophic cardiomyopathy 1410Nov 14, 2018
Familial hypertrophic cardiomyopathy 152Nov 14, 2018
Familial hypertrophic cardiomyopathy 161May 23, 2017
Familial hypertrophic cardiomyopathy 176Nov 14, 2018
Familial hypertrophic cardiomyopathy 191Nov 14, 2018
Familial hypertrophic cardiomyopathy 21Nov 14, 2018
Familial hypertrophic cardiomyopathy 201Nov 14, 2018
Familial hypertrophic cardiomyopathy 414Nov 14, 2018
Familial hypertrophic cardiomyopathy 62Nov 14, 2018
Familial hypertrophic cardiomyopathy 72Nov 14, 2018
Familial hypertrophic cardiomyopathy 81Nov 14, 2018
Familial hypertrophic cardiomyopathy 9125Nov 14, 2018
Familial hypokalemia-hypomagnesemia8Nov 14, 2018
Familial isolated deficiency of vitamin E1Nov 14, 2018
Familial keratoacanthoma2Nov 14, 2018
Familial mediterranean fever, autosomal dominant8Nov 14, 2018
Familial medullary thyroid carcinoma22Nov 14, 2018
Familial partial lipodystrophy 25Nov 14, 2018
Familial platelet disorder with associated myeloid malignancy2Nov 14, 2018
Familial porphyria cutanea tarda2Nov 14, 2018
Familial restrictive cardiomyopathy 12Nov 14, 2018
Familial restrictive cardiomyopathy 31Nov 14, 2018
Familial temporal lobe epilepsy 135Nov 14, 2018
Fanconi anemia, complementation group A22Nov 14, 2018
Fanconi anemia, complementation group B2Nov 14, 2018
Fanconi anemia, complementation group C6Nov 14, 2018
Fanconi anemia, complementation group D155Nov 14, 2018
Fanconi anemia, complementation group D25Nov 14, 2018
Fanconi anemia, complementation group E7Nov 14, 2018
Fanconi anemia, complementation group F5Nov 14, 2018
Fanconi anemia, complementation group G4Nov 14, 2018
Fanconi anemia, complementation group I13Nov 14, 2018
Fanconi anemia, complementation group J22Nov 14, 2018
Fanconi anemia, complementation group N26Nov 14, 2018
Fanconi anemia, complementation group O8Nov 14, 2018
Fanconi anemia, complementation group P18Nov 14, 2018
Fanconi anemia, complementation group Q2Nov 14, 2018
Fanconi anemia, complementation group S43Nov 14, 2018
Fanconi anemia, complementation group U2Nov 14, 2018
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young3Nov 14, 2018
Fanconi-Bickel syndrome2Nov 14, 2018
Fatal infantile hypertonic myofibrillar myopathy1Nov 14, 2018
Febrile seizures, familial, 112Nov 14, 2018
Febrile seizures, familial, 426Nov 14, 2018
Fetal hemoglobin quantitative trait locus 111Nov 14, 2018
Fibrochondrogenesis 23Nov 14, 2018
Fibrosis of extraocular muscles, congenital, 11Nov 14, 2018
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1Nov 14, 2018
Fibrous dysplasia of jaw1Nov 14, 2018
Finnish congenital nephrotic syndrome4Nov 14, 2018
Floating-Harbor syndrome2Nov 14, 2018
Focal cortical dysplasia type II28Nov 14, 2018
Fontaine progeroid syndrome1Nov 14, 2018
Foveal hypoplasia and presenile cataract syndrome2Nov 14, 2018
Frank-Ter Haar syndrome2Nov 14, 2018
Fraser syndrome 13Nov 14, 2018
Fraser syndrome 21Nov 14, 2018
Frasier syndrome2Nov 14, 2018
Freeman-Sheldon syndrome1Nov 14, 2018
Frontometaphyseal dysplasia 18Nov 14, 2018
Frontotemporal dementia6Nov 14, 2018
Fucosidosis1Nov 14, 2018
Fukuyama congenital muscular dystrophy5Nov 14, 2018
Fumarase deficiency5Nov 14, 2018
GATA-1-related thrombocytopenia with dyserythropoiesis1Nov 14, 2018
GLUT1 deficiency syndrome 14Nov 14, 2018
GLUT1 deficiency syndrome 24Nov 14, 2018
GM1 gangliosidosis type 25Nov 14, 2018
GM1 gangliosidosis type 35Nov 14, 2018
GNE myopathy7Nov 14, 2018
GRACILE syndrome2Nov 14, 2018
Galactosylceramide beta-galactosidase deficiency4Nov 14, 2018
Gallbladder disease 42Nov 14, 2018
Gastrointestinal stromal tumor18Nov 14, 2018
Gaucher disease type 3C7Nov 14, 2018
Gaucher disease, perinatal lethal7Nov 14, 2018
Gaucher's disease, type 17Nov 14, 2018
Geleophysic dysplasia 227Nov 14, 2018
Generalized arterial calcification of infancy 26Nov 14, 2018
Generalized dominant dystrophic epidermolysis bullosa10Nov 14, 2018
Generalized epilepsy with febrile seizures plus, type 15Nov 14, 2018
Generalized epilepsy with febrile seizures plus, type 218Nov 14, 2018
Generalized epilepsy with febrile seizures plus, type 713Nov 14, 2018
Giant axonal neuropathy 12Nov 14, 2018
Gilbert's syndrome4Nov 14, 2018
Gillespie syndrome2Nov 14, 2018
Gillessen-Kaesbach-Nishimura syndrome1Nov 14, 2018
Gingival fibromatosis 111Nov 14, 2018
Glaucoma 3, primary congenital, A2Nov 14, 2018
Glaucoma 3, primary infantile, b2Nov 14, 2018
Glaucoma, normal tension, susceptibility to1Nov 14, 2018
Glioma susceptibility 110Nov 14, 2018
Glioma susceptibility 219Nov 14, 2018
Glioma susceptibility 355Nov 14, 2018
Glioma susceptibility 91Nov 14, 2018
Glutaric aciduria, type 112Nov 14, 2018
Glutaryl-CoA oxidase deficiency1Nov 14, 2018
Glycogen storage disease IXb1Nov 14, 2018
Glycogen storage disease XV1Nov 14, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3Nov 14, 2018
Glycogen storage disease due to hepatic glycogen synthase deficiency4Nov 14, 2018
Glycogen storage disease of heart, lethal congenital2Nov 14, 2018
Glycogen storage disease type III7Nov 14, 2018
Glycogen storage disease, type II12Nov 14, 2018
Glycogen storage disease, type IV4Nov 14, 2018
Glycogen storage disease, type V8Nov 14, 2018
Glycogen storage disease, type VI3Nov 14, 2018
Glycogen storage disease, type VII1Nov 14, 2018
Gnathodiaphyseal dysplasia4Nov 14, 2018
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors11Nov 14, 2018
Gonadotropin-independent familial sexual precocity1Nov 14, 2018
Gordon's syndrome1Nov 14, 2018
Gorlin syndrome30Nov 14, 2018
Greenberg dysplasia1Nov 14, 2018
Greig cephalopolysyndactyly syndrome3Nov 14, 2018
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions3Nov 14, 2018
Guillain-Barre syndrome, familial2Nov 14, 2018
HSD10 disease1Nov 14, 2018
Hajdu-Cheney syndrome2Nov 14, 2018
Hamartoma of hypothalamus3Nov 14, 2018
Hartsfield syndrome2Nov 14, 2018
Hb SS disease11Nov 14, 2018
Heart-hand syndrome, Slovenian type5Nov 14, 2018
Heimler syndrome 22Nov 14, 2018
Heinz body anemia11Nov 14, 2018
Helsmoortel-Van der Aa Syndrome2Nov 14, 2018
Hemochromatosis type 12Nov 14, 2018
Hemochromatosis type 31Nov 14, 2018
Hemochromatosis type 41Nov 14, 2018
Hemoglobin, high altitude adaptation1Nov 14, 2018
Hemolytic anemia due to hexokinase deficiency1Nov 14, 2018
Hemorrhage, intracerebral, susceptibility to3Nov 14, 2018
Hepatic adenomas, familial5Nov 14, 2018
Hepatic methionine adenosyltransferase deficiency2Nov 14, 2018
Hepatocellular carcinoma57Nov 14, 2018
Hereditary angioedema type 31Nov 14, 2018
Hereditary cryohydrocytosis with normal stomatin1Nov 14, 2018
Hereditary diffuse gastric cancer12Nov 14, 2018
Hereditary factor XI deficiency disease8Nov 14, 2018
Hereditary fructosuria3Nov 14, 2018
Hereditary hemorrhagic telangiectasia type 15Nov 14, 2018
Hereditary insensitivity to pain with anhidrosis3Nov 14, 2018
Hereditary leiomyomatosis and renal cell cancer4Nov 14, 2018
Hereditary liability to pressure palsies2Nov 14, 2018
Hereditary mixed polyposis syndrome 25Nov 14, 2018
Hereditary motor and sensory neuropathy with optic atrophy3Nov 14, 2018
Hereditary nonpolyposis colorectal cancer type 435Nov 14, 2018
Hereditary nonpolyposis colorectal cancer type 536Nov 14, 2018
Hereditary nonpolyposis colorectal cancer type 68Nov 14, 2018
Hereditary nonpolyposis colorectal cancer type 71Nov 14, 2018
Hereditary nonpolyposis colorectal cancer type 83Nov 14, 2018
Hereditary pancreatitis42Nov 14, 2018
Hereditary sensory and autonomic neuropathy type IIA26Nov 14, 2018
Hereditary sensory and autonomic neuropathy type IIC12Nov 14, 2018
Hereditary spastic paraplegia 156Nov 14, 2018
Hereditary spastic paraplegia 391Nov 14, 2018
Hereditary spastic paraplegia 74Nov 14, 2018
Hereditary spastic paraplegia 81Nov 14, 2018
Hereditary spastic paraplegia 9A1Nov 14, 2018
Hermansky-Pudlak syndrome 23Nov 14, 2018
Hermansky-Pudlak syndrome 51Nov 14, 2018
Heterotopia, periventricular, autosomal recessive1Nov 14, 2018
Hidrotic ectodermal dysplasia syndrome2Nov 14, 2018
Hirschsprung disease 119Nov 14, 2018
Histiocytic medullary reticulosis4Nov 14, 2018
Histiocytosis-lymphadenopathy plus syndrome1Nov 14, 2018
Holocarboxylase synthetase deficiency2Nov 14, 2018
Holoprosencephaly 21Nov 14, 2018
Holoprosencephaly 721Nov 14, 2018
Holoprosencephaly 91Nov 14, 2018
Holt-Oram syndrome1Nov 14, 2018
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Nov 14, 2018
Hurler syndrome3Nov 14, 2018
Hutchinson-Gilford syndrome5Nov 14, 2018
Hydrocephalus, congenital, 3, with brain anomalies1Nov 14, 2018
Hydrolethalus syndrome 26Nov 14, 2018
Hydrops, lactic acidosis, and sideroblastic anemia1Nov 14, 2018
Hyper-IgM syndrome type 11Nov 14, 2018
Hyperaldosteronism, familial, type I2Nov 14, 2018
Hyperaldosteronism, familial, type II1Nov 14, 2018
Hyperaldosteronism, familial, type IV13Nov 14, 2018
Hypercalcemia, infantile, 12Nov 14, 2018
Hypercholanemia, familial2Nov 14, 2018
Hyperekplexia 13Nov 14, 2018
Hyperglycinuria1Nov 14, 2018
Hyperimmunoglobulin D with periodic fever1Nov 14, 2018
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1Nov 14, 2018
Hyperinsulinemic hypoglycemia familial 54Nov 14, 2018
Hyperinsulinemic hypoglycemia, familial, 18Nov 14, 2018
Hyperinsulinemic hypoglycemia, familial, 43Nov 14, 2018
Hyperinsulinism due to glucokinase deficiency6Nov 14, 2018
Hyperlipidemia, familial combined, LPL related1Nov 14, 2018
Hyperlipoproteinemia, type I1Nov 14, 2018
Hyperlysinemia1Nov 14, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Nov 14, 2018
Hyperphosphatasia with mental retardation syndrome 14Nov 14, 2018
Hyperphosphatasia with mental retardation syndrome 23Nov 14, 2018
Hyperphosphatemic familial tumoral calcinosis 11Nov 14, 2018
Hypertrichotic osteochondrodysplasia Cantu type2Nov 14, 2018
Hypertrophic cardiomyopathy2Nov 14, 2018
Hypertrophic cardiomyopathy 251Nov 14, 2018
Hypobetalipoproteinemia, familial, 12Nov 14, 2018
Hypocalcemia, autosomal dominant 11Nov 14, 2018
Hypocalciuric hypercalcemia, familial, type 11Nov 14, 2018
Hypocalciuric hypercalcemia, familial, type III1Nov 14, 2018
Hypochondroplasia9Nov 14, 2018
Hypogonadotropic hypogonadism 11 with or without anosmia1Nov 14, 2018
Hypogonadotropic hypogonadism 2 with or without anosmia2Nov 14, 2018
Hypogonadotropic hypogonadism 5 with or without anosmia13Nov 14, 2018
Hypogonadotropic hypogonadism 7 with or without anosmia4Nov 14, 2018
Hypohidrotic X-linked ectodermal dysplasia2Nov 14, 2018
Hypokalemic periodic paralysis 121Nov 14, 2018
Hypokalemic periodic paralysis, type 217Nov 14, 2018
Hypomyelinating leukodystrophy 73Nov 14, 2018
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism3Nov 14, 2018
Hypomyelination and Congenital Cataract1Nov 14, 2018
Hypomyelination, global cerebral1Nov 14, 2018
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1Nov 14, 2018
Hypospadias 1, X-linked2Nov 14, 2018
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Nov 14, 2018
Hypotonia, infantile, with psychomotor retardation and characteristic facies 23Nov 14, 2018
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Nov 14, 2018
Hystrix-like ichthyosis with deafness20Nov 14, 2018
Ichthyosis vulgaris3Nov 14, 2018
Ichthyosis, cyclic, with epidermolytic hyperkeratosis1Nov 14, 2018
Ichthyosis, spastic quadriplegia, and mental retardation1Nov 14, 2018
Idiopathic Pulmonary Fibrosis6Nov 14, 2018
Idiopathic generalized epilepsy5Nov 14, 2018
Idiopathic hypereosinophilic syndrome6Nov 14, 2018
Idiopathic livedo reticularis with systemic involvement1Nov 14, 2018
Idiopathic nephrotic syndrome3Nov 14, 2018
Iminoglycinuria1Nov 14, 2018
Immunodeficiency 111Nov 14, 2018
Immunodeficiency 11b with atopic dermatitis1Nov 14, 2018
Immunodeficiency 141Nov 14, 2018
Immunodeficiency 32a1Nov 14, 2018
Immunodeficiency 32b1Nov 14, 2018
Immunodeficiency 362Nov 14, 2018
Immunodeficiency due to defect in cd3-zeta1Nov 14, 2018
Increased analgesia from kappa-opioid receptor agonist, female-specific6Nov 14, 2018
Indifference to pain, congenital, autosomal recessive13Nov 14, 2018
Infantile GM1 gangliosidosis5Nov 14, 2018
Infantile Refsum's disease2Nov 14, 2018
Infantile cerebellar-retinal degeneration3Nov 14, 2018
Infantile convulsions and choreoathetosis2Nov 14, 2018
Infantile cortical hyperostosis12Nov 14, 2018
Infantile epileptic dyskinetic encephalopathy7Nov 14, 2018
Infantile hypophosphatasia7Nov 14, 2018
Infantile myofibromatosis 27Nov 14, 2018
Infantile nephronophthisis3Nov 14, 2018
Infantile neuroaxonal dystrophy9Nov 14, 2018
Infantile-onset ascending hereditary spastic paralysis3Nov 14, 2018
Inflammatory bowel disease 11Nov 14, 2018
Insulin-resistant diabetes mellitus AND acanthosis nigricans4Nov 14, 2018
Intellectual disability, autosomal dominant 912Nov 14, 2018
Intellectual disability-developmental delay-contractures syndrome1Nov 14, 2018
Interstitial lung and liver disease1Nov 14, 2018
Interstitial nephritis, karyomegalic1Nov 14, 2018
Intervertebral disc disorder2Nov 14, 2018
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked8Nov 14, 2018
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies2Nov 14, 2018
Iodotyrosyl coupling defect1Nov 14, 2018
Irido-corneo-trabecular dysgenesis2Nov 14, 2018
Ischemic stroke1Nov 14, 2018
Islet cell hyperplasia3Nov 14, 2018
Isovaleryl-CoA dehydrogenase deficiency4Nov 14, 2018
Jackson-Weiss syndrome11Nov 14, 2018
Jervell and Lange-Nielsen syndrome 115Nov 14, 2018
Jervell and Lange-Nielsen syndrome 21Nov 14, 2018
Joubert syndrome 102Nov 14, 2018
Joubert syndrome 131Nov 14, 2018
Joubert syndrome 175Nov 14, 2018
Joubert syndrome 23Nov 14, 2018
Joubert syndrome 202Nov 14, 2018
Joubert syndrome 241Nov 14, 2018
Joubert syndrome 251Nov 14, 2018
Joubert syndrome 284Nov 14, 2018
Joubert syndrome 32Nov 14, 2018
Joubert syndrome 325Nov 14, 2018
Joubert syndrome 43Nov 14, 2018
Joubert syndrome 520Nov 14, 2018
Joubert syndrome 65Nov 14, 2018
Joubert syndrome 79Nov 14, 2018
Joubert syndrome 82Nov 14, 2018
Joubert syndrome 914Nov 14, 2018
Joubert syndrome with hepatic defect28Nov 14, 2018
Junctional epidermolysis bullosa gravis of Herlitz5Nov 14, 2018
Junctional epidermolysis bullosa, non-Herlitz type5Nov 14, 2018
Juvenile myelomonocytic leukemia60Nov 14, 2018
Juvenile myoclonic epilepsy5Nov 14, 2018
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3Nov 14, 2018
Juvenile nephropathic cystinosis2Nov 14, 2018
Juvenile polyposis syndrome14Nov 14, 2018
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome9Nov 14, 2018
Juvenile primary lateral sclerosis3Nov 14, 2018
KBG syndrome2Nov 14, 2018
Kabuki syndrome 112Nov 14, 2018
Kartagener syndrome2Nov 14, 2018
Kennedy disease2Nov 14, 2018
Keratitis fugax hereditaria3Nov 14, 2018
Keratitis, hereditary2Nov 14, 2018
Keratitis-ichthyosis-deafness syndrome, autosomal dominant20Nov 14, 2018
Keratosis palmoplantaris striata II7Nov 14, 2018
Kleefstra syndrome 17Nov 14, 2018
Klein-Waardenberg's syndrome2Nov 14, 2018
Kniest dysplasia4Nov 14, 2018
Knobloch syndrome 11Nov 14, 2018
Knuckle pads, deafness AND leukonychia syndrome20Nov 14, 2018
Koolen-de Vries syndrome1Nov 14, 2018
Kostmann syndrome1Nov 14, 2018
Kufor-Rakeb syndrome4Nov 14, 2018
L-2-hydroxyglutaric aciduria2Nov 14, 2018
LEOPARD syndrome 120Nov 14, 2018
LEOPARD syndrome 25Nov 14, 2018
LEOPARD syndrome 39Nov 14, 2018
Lafora disease4Nov 14, 2018
Large congenital melanocytic nevus4Nov 14, 2018
Laron-type isolated somatotropin defect1Nov 14, 2018
Larsen syndrome2Nov 14, 2018
Laryngo-onycho-cutaneous syndrome1Nov 14, 2018
Lateral meningocele syndrome7Nov 14, 2018
Laurence-Moon syndrome1Nov 14, 2018
Leber congenital amaurosis 11Nov 14, 2018
Leber congenital amaurosis 1020Nov 14, 2018
Leber congenital amaurosis 111Nov 14, 2018
Leber congenital amaurosis 21Nov 14, 2018
Leber congenital amaurosis 41Nov 14, 2018
Leber congenital amaurosis 63Nov 14, 2018
Leber congenital amaurosis 82Nov 14, 2018
Leber congenital amaurosis 91Nov 14, 2018
Leber's optic atrophy3Nov 14, 2018
Left ventricular noncompaction 1014Nov 14, 2018
Left ventricular noncompaction 61Nov 14, 2018
Left ventricular noncompaction 71Nov 14, 2018
Left ventricular noncompaction 83Nov 14, 2018
Leigh syndrome29Nov 14, 2018
Lenz microphthalmia syndrome1Nov 14, 2018
Leprechaunism syndrome4Nov 14, 2018
Leprosy 21Nov 14, 2018
Lesch-Nyhan syndrome1Nov 14, 2018
Lethal Kniest-like syndrome5Nov 14, 2018
Lethal acantholytic epidermolysis bullosa7Nov 14, 2018
Lethal arthrogryposis with anterior horn cell disease1Nov 14, 2018
Lethal congenital contracture syndrome 11Nov 14, 2018
Lethal congenital contracture syndrome 51Nov 14, 2018
Lethal multiple pterygium syndrome4Nov 14, 2018
Lethal tight skin contracture syndrome5Nov 14, 2018
Leucine-induced hypoglycemia8Nov 14, 2018
Leukocyte adhesion deficiency type II1Nov 14, 2018
Leukodystrophy, hypomyelinating, 101Nov 14, 2018
Leukodystrophy, hypomyelinating, 21Nov 14, 2018
Leukodystrophy, hypomyelinating, 61Nov 14, 2018
Leukoencephalopathy with ataxia1Nov 14, 2018
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Nov 14, 2018
Leukoencephalopathy with vanishing white matter4Nov 14, 2018
Levy-Hollister syndrome18Nov 14, 2018
Lewy body dementia7Nov 14, 2018
Leydig cell hypoplasia, type 11Nov 14, 2018
Li-Fraumeni syndrome 110Nov 14, 2018
Li-Fraumeni syndrome 241Nov 14, 2018
Liddle syndrome 21Nov 14, 2018
Lig4 syndrome3Nov 14, 2018
Limb-girdle muscular dystrophy, type 1B1May 23, 2017
Limb-girdle muscular dystrophy, type 2A10Nov 14, 2018
Limb-girdle muscular dystrophy, type 2J125Nov 14, 2018
Limb-girdle muscular dystrophy, type 2L4Nov 14, 2018
Limb-girdle muscular dystrophy, type 2Q13Nov 14, 2018
Limb-girdle muscular dystrophy, type 2S1Nov 14, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C19Nov 14, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C24Nov 14, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C38Nov 14, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C45Nov 14, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C58Nov 14, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C91Nov 14, 2018
Linear skin defects with multiple congenital anomalies 11Nov 14, 2018
Linear skin defects with multiple congenital anomalies 31Nov 14, 2018
Lipoyltransferase 1 deficiency1Nov 14, 2018
Lissencephaly 2, X-linked2Nov 14, 2018
Lissencephaly 31Nov 14, 2018
Lissencephaly 44Nov 14, 2018
Localized epidermolysis bullosa simplex1Nov 14, 2018
Loeys-Dietz syndrome 12Nov 14, 2018
Loeys-Dietz syndrome 28Nov 14, 2018
Loeys-Dietz syndrome 31Nov 14, 2018
Loeys-Dietz syndrome 42Nov 14, 2018
Loeys-Dietz syndrome 51Nov 14, 2018
Long QT syndrome 115Nov 14, 2018
Long QT syndrome 112Nov 14, 2018
Long QT syndrome 121Nov 14, 2018
Long QT syndrome 213Nov 14, 2018
Long QT syndrome 318Nov 14, 2018
Long QT syndrome 51Nov 14, 2018
Long QT syndrome 91Nov 14, 2018
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency3Nov 14, 2018
Low phospholipid associated cholelithiasis2Nov 14, 2018
Lucey-Driscoll syndrome4Nov 14, 2018
Lung carcinoma24Nov 14, 2018
Lung oat cell carcinoma6Nov 14, 2018
Luscan-lumish syndrome4Nov 14, 2018
Lymphangiomyomatosis27Nov 14, 2018
Lymphatic malformation 31Nov 14, 2018
Lymphedema, primary, with myelodysplasia6Nov 14, 2018
Lymphoproliferative syndrome 1, X-linked1Nov 14, 2018
Lymphoproliferative syndrome 2, X-linked1Nov 14, 2018
Lynch syndrome I24Nov 14, 2018
Lynch syndrome II36Nov 14, 2018
Lysosomal acid lipase deficiency2Nov 14, 2018
MASS syndrome27Nov 14, 2018
MERRF syndrome2Nov 14, 2018
MPI-CDG1Nov 14, 2018
MYH-associated polyposis14Nov 14, 2018
MYH7-related late-onset scapuloperoneal muscular dystrophy17Nov 14, 2018
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies6Nov 14, 2018
Macrocephaly/autism syndrome19Nov 14, 2018
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Nov 14, 2018
Macular degeneration, early-onset7Nov 14, 2018
Macular dystrophy with central cone involvement3Nov 14, 2018
Majeed syndrome3Nov 14, 2018
Malignant hyperthermia, susceptibility to, 123Nov 14, 2018
Malignant hyperthermia, susceptibility to, 54Nov 14, 2018
Malignant tumor of esophagus14Nov 14, 2018
Malignant tumor of prostate128Nov 14, 2018
Malignant tumor of testis27Nov 14, 2018
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome30Nov 14, 2018
Mandibuloacral dysplasia with type A lipodystrophy5Nov 14, 2018
Maple syrup urine disease5Nov 14, 2018
Maple syrup urine disease, type 32Nov 14, 2018
Marden-Walker syndrome1Nov 14, 2018
Marfan lipodystrophy syndrome27Nov 14, 2018
Marfan syndrome27Nov 14, 2018
Mastocytosis11Nov 14, 2018
Maturity-onset diabetes of the young type 81Nov 14, 2018
Maturity-onset diabetes of the young, type 13Nov 14, 2018
Maturity-onset diabetes of the young, type 133Nov 14, 2018
Maturity-onset diabetes of the young, type 26Nov 14, 2018
Maturity-onset diabetes of the young, type 35Nov 14, 2018
McCune-Albright syndrome2Nov 14, 2018
McKusick-Kaufman syndrome2Nov 14, 2018
Meacham syndrome2Nov 14, 2018
Meckel syndrome type 14Nov 14, 2018
Meckel syndrome type 614Nov 14, 2018
Meckel syndrome type 76Nov 14, 2018
Meckel syndrome type 81Nov 14, 2018
Meckel syndrome, type 112Nov 14, 2018
Meckel syndrome, type 23Nov 14, 2018
Meckel syndrome, type 35Nov 14, 2018
Meckel syndrome, type 420Nov 14, 2018
Meckel syndrome, type 59Nov 14, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency7Nov 14, 2018
Medulloblastoma65Nov 14, 2018
Megalencephalic leukoencephalopathy with subcortical cysts 11Nov 14, 2018
Megalencephalic leukoencephalopathy with subcortical cysts 2a1Nov 14, 2018
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation1Nov 14, 2018
Megalencephaly-capillary malformation-polymicrogyria syndrome3Nov 14, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Nov 14, 2018
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1Nov 14, 2018
Meier-Gorlin syndrome 41Nov 14, 2018
Melanoma and neural system tumor syndrome4Nov 14, 2018
Melanoma, cutaneous malignant, susceptibility to, 101Nov 14, 2018
Melanoma-pancreatic cancer syndrome4Nov 14, 2018
Melnick-Needles syndrome8Nov 14, 2018
Meningioma, familial29Nov 14, 2018
Mental retardation 3, X-linked2Nov 14, 2018
Mental retardation 63, X-linked1Nov 14, 2018
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Nov 14, 2018
Mental retardation and distinctive facial features with or without cardiac defects1Nov 14, 2018
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Nov 14, 2018
Mental retardation with language impairment and with or without autistic features1Nov 14, 2018
Mental retardation, X-linked 12Nov 14, 2018
Mental retardation, X-linked 1021Nov 14, 2018
Mental retardation, X-linked 191Nov 14, 2018
Mental retardation, X-linked 991Nov 14, 2018
Mental retardation, X-linked 99, syndromic, female-restricted1Nov 14, 2018
Mental retardation, X-linked, syndromic 1310Nov 14, 2018
Mental retardation, X-linked, syndromic, Raymond type1Nov 14, 2018
Mental retardation, X-linked, syndromic, wu type1Nov 14, 2018
Mental retardation, anterior maxillary protrusion, and strabismus2Nov 14, 2018
Mental retardation, autosomal dominant 17Nov 14, 2018
Mental retardation, autosomal dominant 136Nov 14, 2018
Mental retardation, autosomal dominant 141Nov 14, 2018
Mental retardation, autosomal dominant 1621Nov 14, 2018
Mental retardation, autosomal dominant 191Nov 14, 2018
Mental retardation, autosomal dominant 241Nov 14, 2018
Mental retardation, autosomal dominant 291Nov 14, 2018
Mental retardation, autosomal dominant 32Nov 14, 2018
Mental retardation, autosomal dominant 361Nov 14, 2018
Mental retardation, autosomal dominant 381Nov 14, 2018
Mental retardation, autosomal dominant 54Nov 14, 2018
Mental retardation, autosomal dominant 71Nov 14, 2018
Mental retardation, autosomal recessive 11Nov 14, 2018
Mental retardation, autosomal recessive 123Nov 14, 2018
Mental retardation, autosomal recessive 136Nov 14, 2018
Mental retardation, autosomal recessive 152Nov 14, 2018
Mental retardation, autosomal recessive 181Nov 14, 2018
Mental retardation, autosomal recessive 32Nov 14, 2018
Mental retardation, autosomal recessive 3713Nov 14, 2018
Mental retardation, autosomal recessive 381Nov 14, 2018
Mental retardation, autosomal recessive 463Nov 14, 2018
Mental retardation, syndromic, Claes-Jensen type, X-linked1Nov 14, 2018
Mental retardation, with or without seizures, ARX-related, X-linked2Nov 14, 2018
Meretoja syndrome1Nov 14, 2018
Merosin deficient congenital muscular dystrophy25Nov 14, 2018
Mesothelioma, malignant2Nov 14, 2018
Metachondromatosis20Nov 14, 2018
Metachromatic leukodystrophy9Nov 14, 2018
Metaphyseal anadysplasia 21Nov 14, 2018
Metaphyseal chondrodysplasia, McKusick type3Nov 14, 2018
Metaphyseal dysplasia without hypotrichosis3Nov 14, 2018
Metatrophic dysplasia6Nov 14, 2018
Methemoglobinemia, beta-globin type11Nov 14, 2018
Methylcobalamin deficiency type cblG1Nov 14, 2018
Methylmalonic acidemia with homocystinuria, type cblJ1Nov 14, 2018
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency7Nov 14, 2018
Methylmalonyl-CoA epimerase deficiency1Nov 14, 2018
Mevalonic aciduria1Nov 14, 2018
Microcephalic osteodysplastic primordial dwarfism type II18Nov 14, 2018
Microcephaly and chorioretinopathy, autosomal recessive, 11Nov 14, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Nov 14, 2018
Microcephaly, normal intelligence and immunodeficiency21Nov 14, 2018
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy2Nov 14, 2018
Microcephaly, short stature, and impaired glucose metabolism 11Nov 14, 2018
Microphthalmia, syndromic 121Nov 14, 2018
Microvascular complications of diabetes 72Nov 14, 2018
Minicore myopathy with external ophthalmoplegia23Nov 14, 2018
Mitchell-Riley syndrome1Nov 14, 2018
Mitochondrial DNA depletion syndrome 1 (MNGIE type)32Nov 14, 2018
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Nov 14, 2018
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1Nov 14, 2018
Mitochondrial DNA depletion syndrome 22Nov 14, 2018
Mitochondrial DNA depletion syndrome 4B, MNGIE type30Nov 14, 2018
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2Nov 14, 2018
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Nov 14, 2018
Mitochondrial complex I deficiency1May 23, 2017
Mitochondrial complex I deficiency, nuclear type 19Nov 14, 2018
Mitochondrial complex II deficiency22Nov 14, 2018
Mitochondrial complex III deficiency, nuclear type 12Nov 14, 2018
Mitochondrial complex III deficiency, nuclear type 41Nov 14, 2018
Mitochondrial complex IV deficiency4Nov 14, 2018
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1Nov 14, 2018
Mitochondrial trifunctional protein deficiency4Nov 14, 2018
Miyoshi muscular dystrophy 111Nov 14, 2018
Miyoshi muscular dystrophy 34Nov 14, 2018
Molybdenum cofactor deficiency, complementation group A1Nov 14, 2018
Molybdenum cofactor deficiency, complementation group B1Nov 14, 2018
Mononeuropathy of the median nerve, mild4Nov 14, 2018
Mosaic variegated aneuploidy syndrome 17Nov 14, 2018
Mosaic variegated aneuploidy syndrome 23Nov 14, 2018
Mowat-Wilson syndrome4Nov 14, 2018
Moyamoya disease 51Nov 14, 2018
Mucolipidosis type II9Nov 14, 2018
Mucolipidosis type III gamma1Nov 14, 2018
Mucopolysaccharidosis type 62Nov 14, 2018
Mucopolysaccharidosis type 73Nov 14, 2018
Mucopolysaccharidosis, MPS-I-H/S3Nov 14, 2018
Mucopolysaccharidosis, MPS-I-S3Nov 14, 2018
Mucopolysaccharidosis, MPS-III-A3Nov 14, 2018
Mucopolysaccharidosis, MPS-III-B3Nov 14, 2018
Mucopolysaccharidosis, MPS-III-C3Nov 14, 2018
Mucopolysaccharidosis, MPS-IV-A2Nov 14, 2018
Mucopolysaccharidosis, MPS-IV-B5Nov 14, 2018
Muenke syndrome9Nov 14, 2018
Muir-Torré syndrome60Nov 14, 2018
Multiple acyl-CoA dehydrogenase deficiency4Nov 14, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 21Nov 14, 2018
Multiple endocrine neoplasia, type 13Nov 14, 2018
Multiple endocrine neoplasia, type 2a19Nov 14, 2018
Multiple endocrine neoplasia, type 2b19Nov 14, 2018
Multiple endocrine neoplasia, type 42Nov 14, 2018
Multiple epiphyseal dysplasia 63Nov 14, 2018
Multiple epiphyseal dysplasia type 43Nov 14, 2018
Multiple exostoses type 23Nov 14, 2018
Multiple fibrofolliculomas6Nov 14, 2018
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Nov 14, 2018
Multiple myeloma3Nov 14, 2018
Multiple sulfatase deficiency1Nov 14, 2018
Multisystemic smooth muscle dysfunction syndrome1Nov 14, 2018
Mungan syndrome1Nov 14, 2018
Muscle AMP deaminase deficiency2Nov 14, 2018
Muscle eye brain disease8Nov 14, 2018
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency4Nov 14, 2018
Muscular dystrophy, limb-girdle, autosomal dominant 48Nov 14, 2018
Muscular dystrophy, limb-girdle, autosomal recessive 2323Nov 14, 2018
Muscular dystrophy, limb-girdle, type 2R1May 23, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 129Nov 14, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101Nov 14, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Nov 14, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 131Nov 14, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 142Nov 14, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91Nov 14, 2018
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 142Nov 14, 2018
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 142Nov 14, 2018
Mutilating keratoderma20Nov 14, 2018
Myasthenia, limb-girdle, familial1Nov 14, 2018
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency3Nov 14, 2018
Myasthenic syndrome, congenital, 141Nov 14, 2018
Myasthenic syndrome, congenital, 172Nov 14, 2018
Myasthenic syndrome, congenital, 20, presynaptic2Nov 14, 2018
Myasthenic syndrome, congenital, 3a, slow-channel3Nov 14, 2018
Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency3Nov 14, 2018
Myasthenic syndrome, congenital, 4a, slow-channel1Nov 14, 2018
Myasthenic syndrome, congenital, 4b, fast-channel1Nov 14, 2018
Myasthenic syndrome, congenital, 82Nov 14, 2018
Myelodysplastic syndrome6Nov 14, 2018
Myelofibrosis3Nov 14, 2018
Myhre syndrome9Nov 14, 2018
Myoclonic epilepsy, familial infantile2Nov 14, 2018
Myoclonic-atonic epilepsy3Nov 14, 2018
Myofibrillar myopathy 12Nov 14, 2018
Myofibrillar myopathy 32Nov 14, 2018
Myofibrillar myopathy, BAG3-related6Nov 14, 2018
Myofibrillar myopathy, ZASP-related4Nov 14, 2018
Myofibrillar myopathy, filamin C-related9Nov 14, 2018
Myopathy, centronuclear, 11Nov 14, 2018
Myopathy, centronuclear, 42Nov 14, 2018
Myopathy, centronuclear, 51Nov 14, 2018
Myopathy, distal, 117Nov 14, 2018
Myopathy, distal, 49Nov 14, 2018
Myopathy, distal, 51Nov 14, 2018
Myopathy, distal, with anterior tibial onset11Nov 14, 2018
Myopathy, early-onset, with fatal cardiomyopathy125Nov 14, 2018
Myopathy, myofibrillar, 9, with early respiratory failure125Nov 14, 2018
Myopathy, myosin storage, autosomal recessive17Nov 14, 2018
Myopathy, proximal, and ophthalmoplegia3Nov 14, 2018
Myopathy, tubular aggregate, 21Nov 14, 2018
Myopia 61Nov 14, 2018
Myopia, high, with cataract and vitreoretinal degeneration1Nov 14, 2018
Myosclerosis, autosomal recessive3Nov 14, 2018
Myosin storage myopathy17Nov 14, 2018
NDE1-related microhydranencephaly4Nov 14, 2018
Nail disorder, nonsyndromic congenital, 810Nov 14, 2018
Nail-patella syndrome2Nov 14, 2018
Namaqualand hip dysplasia4Nov 14, 2018
Nance-Horan syndrome2Nov 14, 2018
Nasopharyngeal carcinoma10Nov 14, 2018
Navajo neurohepatopathy2Nov 14, 2018
Naxos disease2Nov 14, 2018
Nemaline myopathy 11, autosomal recessive5Nov 14, 2018
Nemaline myopathy 212Nov 14, 2018
Neonatal intrahepatic cholestasis caused by citrin deficiency1Nov 14, 2018
Neonatal severe hyperparathyroidism1Nov 14, 2018
Neoplasm of ovary16Nov 14, 2018
Neoplasm of stomach59Nov 14, 2018
Nephrolithiasis/osteoporosis, hypophosphatemic, 21Nov 14, 2018
Nephronophthisis 13Nov 14, 2018
Nephronophthisis 115Nov 14, 2018
Nephronophthisis 122Nov 14, 2018
Nephronophthisis 151Nov 14, 2018
Nephronophthisis 36Nov 14, 2018
Nephronophthisis 412Nov 14, 2018
Nephronophthisis 71Nov 14, 2018
Nephronophthisis 91Nov 14, 2018
Nephropathic cystinosis2Nov 14, 2018
Nephrotic syndrome, type 42Nov 14, 2018
Nephrotic syndrome, type 5, with or without ocular abnormalities2Nov 14, 2018
Neural tube defects, folate-sensitive2Nov 14, 2018
Neuroblastoma1Nov 14, 2018
Neuroblastoma 22Nov 14, 2018
Neuroblastoma 311Nov 14, 2018
Neurodegeneration with brain iron accumulation 2b9Nov 14, 2018
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures4Nov 14, 2018
Neurodevelopmental disorder with involuntary movements3Nov 14, 2018
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Nov 14, 2018
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1Nov 14, 2018
Neurofibromatosis, familial spinal39Nov 14, 2018
Neurofibromatosis, type 139Nov 14, 2018
Neurofibromatosis, type 24Nov 14, 2018
Neurofibromatosis-Noonan syndrome39Nov 14, 2018
Neurogenic scapuloperoneal syndrome, Kaeser type2Nov 14, 2018
Neuronal ceroid lipofuscinosis 14Nov 14, 2018
Neuronal ceroid lipofuscinosis 101Nov 14, 2018
Neuronal ceroid lipofuscinosis 33Nov 14, 2018
Neuronal ceroid lipofuscinosis 51Nov 14, 2018
Neuronal ceroid lipofuscinosis 64Nov 14, 2018
Neuronal ceroid lipofuscinosis 73Nov 14, 2018
Neuronal ceroid lipofuscinosis 82Nov 14, 2018
Neuronopathy, distal hereditary motor, type viia2Nov 14, 2018
Neuropathy, hereditary motor and sensory, Russe type1Nov 14, 2018
Neuropathy, hereditary sensory and autonomic, type 1A5Nov 14, 2018
Neuropathy, hereditary sensory and autonomic, type VII1Nov 14, 2018
Neutral 1 amino acid transport defect1Nov 14, 2018
Neutral lipid storage myopathy1Nov 14, 2018
Neutropenia, severe congenital 1, autosomal dominant1Nov 14, 2018
Nicolaides-Baraitser syndrome1Nov 14, 2018
Niemann-Pick disease type C122Nov 14, 2018
Niemann-Pick disease, type A3Nov 14, 2018
Niemann-Pick disease, type B3Nov 14, 2018
Niemann-Pick disease, type C23Nov 14, 2018
Nijmegen breakage syndrome-like disorder32Nov 14, 2018
Non-acquired combined pituitary hormone deficiency with spine abnormalities2Nov 14, 2018
Non-ketotic hyperglycinemia7Nov 14, 2018
Noonan syndrome 133Nov 14, 2018
Noonan syndrome 104Nov 14, 2018
Noonan syndrome 31Nov 14, 2018
Noonan syndrome 411Nov 14, 2018
Noonan syndrome 55Nov 14, 2018
Noonan syndrome 79Nov 14, 2018
Noonan syndrome 85Nov 14, 2018
Noonan syndrome 92Nov 14, 2018
Noonan syndrome-like disorder with loose anagen hair 12Nov 14, 2018
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Nov 14, 2018
Norman-Roberts syndrome32Nov 14, 2018
Obesity1Nov 14, 2018
Occult macular dystrophy1Nov 14, 2018
Ocular cystinosis2Nov 14, 2018
Oculocutaneous albinism type 1B14Nov 14, 2018
Oculocutaneous albinism type 41Nov 14, 2018
Oculofaciocardiodental syndrome1Nov 14, 2018
Oculotrichoanal syndrome1Nov 14, 2018
Odonto-onycho-dermal dysplasia2Nov 14, 2018
Ohdo syndrome, X-linked4Nov 14, 2018
Oligodontia-colorectal cancer syndrome11Nov 14, 2018
Optic atrophy 51Nov 14, 2018
Optic atrophy 93Nov 14, 2018
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Nov 14, 2018
Optic nerve hypoplasia, bilateral2Nov 14, 2018
Ornithine carbamoyltransferase deficiency2Nov 14, 2018
Orofacial cleft 6, susceptibility to1Nov 14, 2018
Orofaciodigital syndrome I2Nov 14, 2018
Orofaciodigital syndrome type 65Nov 14, 2018
Osteochondritis dissecans1Aug 5, 2016
Osteofibrous dysplasia10Nov 14, 2018
Osteogenesis imperfecta type 101Nov 14, 2018
Osteogenesis imperfecta type 51Nov 14, 2018
Osteogenesis imperfecta type 71Nov 14, 2018
Osteogenesis imperfecta type 84Nov 14, 2018
Osteogenesis imperfecta type I12Nov 14, 2018
Osteogenesis imperfecta type III20Nov 14, 2018
Osteogenesis imperfecta with normal sclerae, dominant form20Nov 14, 2018
Osteogenesis imperfecta, recessive perinatal lethal20Nov 14, 2018
Osteogenesis imperfecta, type XI1Nov 14, 2018
Osteogenesis imperfecta, type xvi1Nov 14, 2018
Osteoglophonic dysplasia2Nov 14, 2018
Osteoporosis with pseudoglioma2Nov 14, 2018
Osteosarcoma57Nov 14, 2018
Oto-palato-digital syndrome, type I8Nov 14, 2018
Oto-palato-digital syndrome, type II8Nov 14, 2018
Otofaciocervical syndrome 11Nov 14, 2018
Otospondylomegaepiphyseal dysplasia, autosomal dominant3Nov 14, 2018
Otospondylomegaepiphyseal dysplasia, autosomal recessive3Nov 14, 2018
Ovalocytosis, southeast Asian1Nov 14, 2018
PTEN hamartoma tumor syndrome16Nov 14, 2018
Pachyonychia congenita 11Nov 14, 2018
Paget disease of bone 2, early-onset1Nov 14, 2018
Pallister-Hall syndrome3Nov 14, 2018
Palmoplantar keratoderma, nagashima type1Nov 14, 2018
Palmoplantar keratoderma, nonepidermolytic, focal1Nov 14, 2018
Palmoplantar keratoderma-deafness syndrome20Nov 14, 2018
Pancreatic agenesis 21Nov 14, 2018
Pancreatic agenesis and congenital heart disease2Nov 14, 2018
Pancreatic cancer 255Nov 14, 2018
Pancreatic cancer 326Nov 14, 2018
Pancreatic cancer 445Nov 14, 2018
Paragangliomas 13Nov 14, 2018
Paragangliomas 31Nov 14, 2018
Paragangliomas 48Nov 14, 2018
Paragangliomas 519Nov 14, 2018
Paramyotonia congenita of von Eulenburg17Nov 14, 2018
Parastremmatic dwarfism6Nov 14, 2018
Parkinson disease 149Nov 14, 2018
Parkinson disease 21Nov 14, 2018
Parkinson disease 6, autosomal recessive early-onset1Nov 14, 2018
Parkinson disease 8, autosomal dominant1Nov 14, 2018
Parkinson disease, late-onset11Nov 14, 2018
Parkinson-dementia syndrome4Nov 14, 2018
Parkinsonism-dystonia, infantile, 12Nov 14, 2018
Paroxysmal extreme pain disorder13Nov 14, 2018
Paroxysmal familial ventricular fibrillation 118Nov 14, 2018
Paroxysmal nocturnal hemoglobinuria 11Nov 14, 2018
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1Nov 14, 2018
Partial albinism11Nov 14, 2018
Partial androgen insensitivity syndrome2Nov 14, 2018
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1Nov 14, 2018
Partington syndrome2Nov 14, 2018
Pelger-Huët anomaly1Nov 14, 2018
Pena-Shokeir syndrome type I4Nov 14, 2018
Pendred syndrome20Nov 14, 2018
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1Nov 14, 2018
Periventricular nodular heterotopia 18Nov 14, 2018
Perlman syndrome14Nov 14, 2018
Permanent neonatal diabetes mellitus17Nov 14, 2018
Peroxisome biogenesis disorder 11A1Nov 14, 2018
Peroxisome biogenesis disorder 11B1Nov 14, 2018
Peroxisome biogenesis disorder 12A1Nov 14, 2018
Peroxisome biogenesis disorder 13A1Nov 14, 2018
Peroxisome biogenesis disorder 1A (Zellweger)7Nov 14, 2018
Peroxisome biogenesis disorder 1B7Nov 14, 2018
Peroxisome biogenesis disorder 3A2Nov 14, 2018
Peroxisome biogenesis disorder 4B2Nov 14, 2018
Peroxisome biogenesis disorder 4a (zellweger)2Nov 14, 2018
Peroxisome biogenesis disorder 5B1Nov 14, 2018
Peroxisome biogenesis disorder 5a (zellweger)1Nov 14, 2018
Peroxisome biogenesis disorder 6A3Nov 14, 2018
Peroxisome biogenesis disorder 6B3Nov 14, 2018
Peroxisome biogenesis disorder 7A2Nov 14, 2018
Peroxisome biogenesis disorder 7B2Nov 14, 2018
Peroxisome biogenesis disorder 8A2Nov 14, 2018
Peroxisome biogenesis disorder 8B2Nov 14, 2018
Peroxisome biogenesis disorder 9B5Nov 14, 2018
Perrault syndrome 12Nov 14, 2018
Perrault syndrome 41Nov 14, 2018
Perry syndrome3Nov 14, 2018
Peutz-Jeghers syndrome7Nov 14, 2018
Pfeiffer syndrome11Nov 14, 2018
Phenylketonuria39Nov 14, 2018
Pheochromocytoma41Nov 14, 2018
Phosphoglycerate kinase 1 deficiency2Nov 14, 2018
Phytanic acid storage disease6Nov 14, 2018
Pick's disease6Nov 14, 2018
Pierson syndrome2Nov 14, 2018
Pigmentary pallidal degeneration1Nov 14, 2018
Pigmentary retinal dystrophy1Nov 14, 2018
Pigmented nodular adrenocortical disease, primary, 11Nov 14, 2018
Pigmented paravenous chorioretinal atrophy2Nov 14, 2018
Pili torti-deafness syndrome2Nov 14, 2018
Pilomatrixoma15Nov 14, 2018
Pineal hyperplasia AND diabetes mellitus syndrome4Nov 14, 2018
Pitt-Hopkins-like syndrome 121Nov 14, 2018
Pitt-Hopkins-like syndrome 216Nov 14, 2018
Pituitary adenoma 3, multiple types2Nov 14, 2018
Pituitary adenoma 5, multiple types18Nov 14, 2018
Pituitary dependent hypercortisolism2Nov 14, 2018
Pituitary hormone deficiency, combined 21Nov 14, 2018
Pituitary hormone deficiency, combined, 11Nov 14, 2018
Pityriasis rubra pilaris1Nov 14, 2018
Plasminogen deficiency, type I1Nov 14, 2018
Platyspondylic dysplasia, Torrance type4Nov 14, 2018
Pneumothorax, primary spontaneous6Nov 14, 2018
Polyarteritis nodosa, childhoood-onset1Nov 14, 2018
Polycystic kidney disease 24Nov 14, 2018
Polycystic kidney disease, adult type12Nov 14, 2018
Polycystic liver disease 3 with or without kidney cysts1Nov 14, 2018
Polycystic liver disease 4 with or without kidney cysts2Nov 14, 2018
Polycythemia vera1Nov 14, 2018
Polyglandular autoimmune syndrome, type 11Nov 14, 2018
Polyglucosan body myopathy 21Nov 14, 2018
Polymicrogyria with optic nerve hypoplasia2Nov 14, 2018
Polymicrogyria, bilateral frontoparietal3Nov 14, 2018
Polymicrogyria, bilateral perisylvian, autosomal recessive3Nov 14, 2018
Polymicrogyria, bilateral temporooccipital1Nov 14, 2018
Pontocerebellar hypoplasia type 1A2Nov 14, 2018
Pontocerebellar hypoplasia type 2A3Nov 14, 2018
Pontocerebellar hypoplasia type 2B3Nov 14, 2018
Pontocerebellar hypoplasia type 2C1Nov 14, 2018
Pontocerebellar hypoplasia type 43Nov 14, 2018
Pontocerebellar hypoplasia type 52Nov 14, 2018
Pontocerebellar hypoplasia type 65Nov 14, 2018
Pontocerebellar hypoplasia, type 1b1May 23, 2017
Popliteal pterygium syndrome1Nov 14, 2018
Porokeratosis 3, disseminated superficial actinic type1Nov 14, 2018
Portal hypertension, noncirrhotic1Nov 14, 2018
Postaxial polydactyly type A13Nov 14, 2018
Posterior column ataxia-retinitis pigmentosa syndrome1Nov 14, 2018
Postmenopausal osteoporosis22Nov 14, 2018
Potassium-aggravated myotonia17Nov 14, 2018
Potocki-Lupski syndrome6Nov 14, 2018
Prader-Willi syndrome4Nov 14, 2018
Preaxial polydactyly 43Nov 14, 2018
Premature chromatid separation trait7Nov 14, 2018
Premature ovarian failure 119Nov 14, 2018
Premature ovarian failure 1510Nov 14, 2018
Preterm premature rupture of membranes1Nov 14, 2018
Pretibial epidermolysis bullosa10Nov 14, 2018
Primary autosomal recessive microcephaly 111Nov 14, 2018
Primary autosomal recessive microcephaly 111Nov 14, 2018
Primary autosomal recessive microcephaly 131Nov 14, 2018
Primary autosomal recessive microcephaly 25Nov 14, 2018
Primary autosomal recessive microcephaly 41Nov 14, 2018
Primary autosomal recessive microcephaly 517Nov 14, 2018
Primary autosomal recessive microcephaly 67Nov 14, 2018
Primary autosomal recessive microcephaly 75Nov 14, 2018
Primary autosomal recessive microcephaly 93Nov 14, 2018
Primary ciliary dyskinesia4Nov 14, 2018
Primary ciliary dyskinesia 241Nov 14, 2018
Primary erythromelalgia13Nov 14, 2018
Primary familial polycythemia due to EPO receptor mutation2Nov 14, 2018
Primary hyperoxaluria, type I4Nov 14, 2018
Primary hyperoxaluria, type III2Nov 14, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 130Nov 14, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 32Nov 14, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41Nov 14, 2018
Progressive familial heart block type IB1Nov 14, 2018
Progressive familial heart block, type 1A18Nov 14, 2018
Progressive familial intrahepatic cholestasis 23Nov 14, 2018
Progressive familial intrahepatic cholestasis 32Nov 14, 2018
Progressive familial intrahepatic cholestasis 42Nov 14, 2018
Progressive myoclonus epilepsy with ataxia4Nov 14, 2018
Progressive myositis ossificans1Nov 14, 2018
Progressive osseous heteroplasia2Nov 14, 2018
Progressive sclerosing poliodystrophy30Nov 14, 2018
Progressive supranuclear ophthalmoplegia4Nov 14, 2018
Propionic acidemia4Nov 14, 2018
Prostate cancer, hereditary, 94Nov 14, 2018
Proteasome-associated autoinflammatory syndrome 11Nov 14, 2018
Pseudo-Hurler polydystrophy9Nov 14, 2018
Pseudohypoaldosteronism type 2C1Nov 14, 2018
Pseudohypoparathyroidism2Nov 14, 2018
Pseudohypoparathyroidism type 1B2Nov 14, 2018
Pseudohypoparathyroidism type 1C2Nov 14, 2018
Pseudopseudohypoparathyroidism2Nov 14, 2018
Pseudoxanthoma elasticum7Nov 14, 2018
Pseudoxanthoma elasticum, forme fruste6Nov 14, 2018
Psoriasis susceptibility 21Nov 14, 2018
Psoriatic arthritis, susceptibility to1Nov 14, 2018
Pulmonary Hypertension, Primary, 12Nov 14, 2018
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 16Nov 14, 2018
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 32Nov 14, 2018
Pulmonary hypertension, neonatal, susceptibility to4Nov 14, 2018
Pulmonary venoocclusive disease 1, autosomal dominant2Nov 14, 2018
Purine-nucleoside phosphorylase deficiency1Nov 14, 2018
Pyridoxine-dependent epilepsy4Nov 14, 2018
Pyruvate carboxylase deficiency3Nov 14, 2018
Pyruvate dehydrogenase E3-binding protein deficiency3Nov 14, 2018
Pyruvate kinase deficiency of red cells4Nov 14, 2018
RAS-associated autoimmune leukoproliferative disorder1Nov 14, 2018
Radial aplasia-thrombocytopenia syndrome1Nov 14, 2018
Rapadilino syndrome37Nov 14, 2018
Recessive dystrophic epidermolysis bullosa10Nov 14, 2018
Recurrent abortion1Nov 14, 2018
Regressive spondylometaphyseal dysplasia1Nov 14, 2018
Renal carnitine transport defect8Nov 14, 2018
Renal cell carcinoma, nonpapillary18Nov 14, 2018
Renal cell carcinoma, papillary, 110Nov 14, 2018
Renal hypodysplasia/aplasia 12May 23, 2017
Renal tubular acidosis with progressive nerve deafness3Nov 14, 2018
Renal tubular acidosis, distal, autosomal recessive1Nov 14, 2018
Renal tubular acidosis, distal, with hemolytic anemia1Nov 14, 2018
Renal-hepatic-pancreatic dysplasia 16Nov 14, 2018
Renal-hepatic-pancreatic dysplasia 21Nov 14, 2018
Reticular dysgenesis1Nov 14, 2018
Retinal arteries, tortuosity of3Nov 14, 2018
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations3Nov 14, 2018
Retinitis pigmentosa1Nov 14, 2018
Retinitis pigmentosa 11Nov 14, 2018
Retinitis pigmentosa 101Nov 14, 2018
Retinitis pigmentosa 122Nov 14, 2018
Retinitis pigmentosa 1919Nov 14, 2018
Retinitis pigmentosa 201Nov 14, 2018
Retinitis pigmentosa 232Nov 14, 2018
Retinitis pigmentosa 255Nov 14, 2018
Retinitis pigmentosa 263Nov 14, 2018
Retinitis pigmentosa 282Nov 14, 2018
Retinitis pigmentosa 301Nov 14, 2018
Retinitis pigmentosa 372Nov 14, 2018
Retinitis pigmentosa 3924Nov 14, 2018
Retinitis pigmentosa 41Nov 14, 2018
Retinitis pigmentosa 413Nov 14, 2018
Retinitis pigmentosa 431Nov 14, 2018
Retinitis pigmentosa 501Nov 14, 2018
Retinitis pigmentosa 512Nov 14, 2018
Retinitis pigmentosa 541Nov 14, 2018
Retinitis pigmentosa 581Nov 14, 2018
Retinitis pigmentosa 591Nov 14, 2018
Retinitis pigmentosa 733Nov 14, 2018
Retinitis pigmentosa 745Nov 14, 2018
Retinitis pigmentosa 768Nov 14, 2018
Retinitis pigmentosa 791Nov 14, 2018
Retinoblastoma6Nov 14, 2018
Rett syndrome10Nov 14, 2018
Rett syndrome, congenital variant1Nov 14, 2018
Reynolds syndrome1Nov 14, 2018
Rhabdoid tumor predisposition syndrome 221Nov 14, 2018
Rhabdomyosarcoma, embryonal, 211Nov 14, 2018
Rhizomelic chondrodysplasia punctata type 15Nov 14, 2018
Rhizomelic chondrodysplasia punctata type 31Nov 14, 2018
Rigidity and multifocal seizure syndrome, lethal neonatal4Nov 14, 2018
Rippling muscle disease 21Nov 14, 2018
Ritscher-Schinzel syndrome 11Nov 14, 2018
Robinow-Sorauf syndrome1Nov 14, 2018
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2Nov 14, 2018
Rothmund-Thomson syndrome37Nov 14, 2018
Roussy-Lévy syndrome6Nov 14, 2018
Rubinstein-Taybi syndrome 12Nov 14, 2018
SCHIZENCEPHALY4Nov 14, 2018
SHORT syndrome2Nov 14, 2018
SLC35A2-CDG1Nov 14, 2018
SUDDEN INFANT DEATH SYNDROME18Nov 14, 2018
Saccharopinuria1Nov 14, 2018
Saethre-Chotzen syndrome10Nov 14, 2018
Salla disease4Nov 14, 2018
Salt and pepper developmental regression syndrome1Nov 14, 2018
Sandhoff disease3Nov 14, 2018
Sarcotubular myopathy1Nov 14, 2018
Scaphocephaly, maxillary retrusion, and mental retardation9Nov 14, 2018
Scapuloperoneal spinal muscular atrophy6Nov 14, 2018
Schaaf-Yang syndrome3Nov 14, 2018
Schimke immuno-osseous dysplasia2Nov 14, 2018
Schinzel-Giedion syndrome1Nov 14, 2018
Schizophrenia1Nov 14, 2018
Schizophrenia 151Nov 14, 2018
Schizophrenia 1716Nov 14, 2018
Schopf-Schulz-Passarge syndrome2Nov 14, 2018
Schuurs-hoeijmakers syndrome1May 23, 2017
Schwannomatosis 14Nov 14, 2018
Schwannomatosis 24Nov 14, 2018
Schwartz-Jampel syndrome5Nov 14, 2018
Sclerosteosis 22Nov 14, 2018
Seborrheic keratosis3Nov 14, 2018
Seckel syndrome 12Nov 14, 2018
Seckel syndrome 47Nov 14, 2018
Seckel syndrome 53Nov 14, 2018
Seizures, benign familial infantile, 22Nov 14, 2018
Seizures, benign familial infantile, 310Nov 14, 2018
Seizures, benign familial infantile, 54Nov 14, 2018
Seizures, cortical blindness, and microcephaly syndrome2Nov 14, 2018
Seizures, scoliosis, and macrocephaly syndrome3Nov 14, 2018
Senior-Loken syndrome 13Nov 14, 2018
Senior-Loken syndrome 412Nov 14, 2018
Senior-Loken syndrome 620Nov 14, 2018
Senior-Loken syndrome 72Nov 14, 2018
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome30Nov 14, 2018
Septo-optic dysplasia sequence1Nov 14, 2018
Severe achondroplasia with developmental delay and acanthosis nigricans9Nov 14, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type1Nov 14, 2018
Severe combined immunodeficiency due to ADA deficiency4Nov 14, 2018
Severe combined immunodeficiency due to DCLRE1C deficiency1Nov 14, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3Nov 14, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2Nov 14, 2018
Severe myoclonic epilepsy in infancy31Nov 14, 2018
Severe neonatal-onset encephalopathy with microcephaly10Nov 14, 2018
Shaheen syndrome1Nov 14, 2018
Short QT syndrome 113Nov 14, 2018
Short QT syndrome 215Nov 14, 2018
Short QT syndrome 31Nov 14, 2018
Short rib-polydactyly syndrome, Majewski type2Nov 14, 2018
Short stature due to growth hormone secretagogue receptor deficiency1Nov 14, 2018
Short stature, brachydactyly, intellectual developmental disability, and seizures1Nov 14, 2018
Short stature, idiopathic, autosomal1Nov 14, 2018
Short-rib thoracic dysplasia 3 with or without polydactyly2Nov 14, 2018
Shprintzen syndrome1Nov 14, 2018
Shprintzen-Goldberg syndrome6Nov 14, 2018
Shwachman-Diamond syndrome 11Nov 14, 2018
Sialic acid storage disease, severe infantile type4Nov 14, 2018
Sialuria7Nov 14, 2018
Sick sinus syndrome 1, autosomal recessive18Nov 14, 2018
Sick sinus syndrome 2, autosomal dominant4Nov 14, 2018
Sick sinus syndrome 3, susceptibility to10Nov 14, 2018
Simpson-Golabi-Behmel syndrome type 11Nov 14, 2018
Simpson-Golabi-Behmel syndrome, type 22Nov 14, 2018
Singleton-Merten syndrome 12Nov 14, 2018
Sitosterolemia4Nov 14, 2018
Skin fragility-woolly hair-palmoplantar keratoderma syndrome7Nov 14, 2018
Skin/hair/eye pigmentation, variation in, 18Nov 14, 2018
Skin/hair/eye pigmentation, variation in, 26Nov 14, 2018
Skin/hair/eye pigmentation, variation in, 314Nov 14, 2018
Skin/hair/eye pigmentation, variation in, 51Nov 14, 2018
Smith-Kingsmore syndrome1Nov 14, 2018
Smith-Lemli-Opitz syndrome19Nov 14, 2018
Smith-Magenis syndrome4Nov 14, 2018
Sodium serum level quantitative trait locus 16Nov 14, 2018
Somatotroph adenoma2Nov 14, 2018
Sotos syndrome 17Nov 14, 2018
Sotos syndrome 31Nov 14, 2018
Spastic paraplegia 11, autosomal recessive6Nov 14, 2018
Spastic paraplegia 171Nov 14, 2018
Spastic paraplegia 30, autosomal recessive12Nov 14, 2018
Spastic paraplegia 351Nov 14, 2018
Spastic paraplegia 4, autosomal dominant2Nov 14, 2018
Spastic paraplegia 44, autosomal recessive1Nov 14, 2018
Spastic paraplegia 47, autosomal recessive2Nov 14, 2018
Spastic paraplegia 48, autosomal recessive1Nov 14, 2018
Spastic paraplegia 50, autosomal recessive2Nov 14, 2018
Spastic paraplegia 51, autosomal recessive2Nov 14, 2018
Spastic paraplegia 54, autosomal recessive1Nov 14, 2018
Spastic paraplegia 78, autosomal recessive4Nov 14, 2018
Spastic paraplegia 9b, autosomal recessive1Nov 14, 2018
Spermatogenic failure 2810Nov 14, 2018
Spermatogenic failure 71Nov 14, 2018
Spherocytosis type 41Nov 14, 2018
Spheroid body myopathy2Nov 14, 2018
Spinal muscular atrophy, distal, autosomal recessive, 15Nov 14, 2018
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant6Nov 14, 2018
Spinocerebellar ataxia 404Nov 14, 2018
Spinocerebellar ataxia 421Nov 14, 2018
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Nov 14, 2018
Spinocerebellar ataxia 441Nov 14, 2018
Spinocerebellar ataxia type 111Nov 14, 2018
Spinocerebellar ataxia type 131Nov 14, 2018
Spinocerebellar ataxia type 162Nov 14, 2018
Spinocerebellar ataxia type 292Nov 14, 2018
Spinocerebellar ataxia type 341Nov 14, 2018
Spinocerebellar ataxia type 51Nov 14, 2018
Spinocerebellar ataxia type 614Nov 14, 2018
Spinocerebellar ataxia, autosomal recessive 101Nov 14, 2018
Spinocerebellar ataxia, autosomal recessive 126Nov 14, 2018
Spinocerebellar ataxia, autosomal recessive 131Nov 14, 2018
Spinocerebellar ataxia, autosomal recessive 141Nov 14, 2018
Spinocerebellar ataxia, autosomal recessive 241Nov 14, 2018
Spinocerebellar ataxia, autosomal recessive 814Nov 14, 2018
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 28Nov 14, 2018
Spondylocarpotarsal synostosis syndrome2Nov 14, 2018
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1Nov 14, 2018
Spondyloepimetaphyseal dysplasia with joint laxity, type 21Nov 14, 2018
Spondyloepiphyseal dysplasia Maroteaux type6Nov 14, 2018
Spondyloepiphyseal dysplasia congenita4Nov 14, 2018
Spondyloepiphyseal dysplasia, stanescu type4Nov 14, 2018
Spondylometaphyseal dysplasia4Nov 14, 2018
Spondylometaphyseal dysplasia, Kozlowski type6Nov 14, 2018
Spondyloperipheral dysplasia-short ulna syndrome4Nov 14, 2018
Spongy degeneration of central nervous system3Nov 14, 2018
Squamous cell carcinoma of the head and neck3May 23, 2017
Stargardt Disease 31Nov 14, 2018
Stargardt disease 120Nov 14, 2018
Stargardt disease 43Nov 14, 2018
Steel syndrome1Nov 14, 2018
Stickler syndrome type 14Nov 14, 2018
Stickler syndrome, type 43Nov 14, 2018
Stickler syndrome, type 52Nov 14, 2018
Stickler syndrome, type I, nonsyndromic ocular4Nov 14, 2018
Stiff skin syndrome27Nov 14, 2018
Sting-associated vasculopathy, infantile-onset1Nov 14, 2018
Stomatin-deficient cryohydrocytosis with neurologic defects5Nov 14, 2018
Striatal necrosis, bilateral, and progressive polyneuropathy2Nov 14, 2018
Stuttering, familial persistent 12Nov 14, 2018
Stüve-Wiedemann syndrome2Nov 14, 2018
Subacute neuronopathic Gaucher's disease7Nov 14, 2018
Succinate-semialdehyde dehydrogenase deficiency4Nov 14, 2018
Supravalvar aortic stenosis3Nov 14, 2018
Susceptibility to malaria18Nov 14, 2018
Sweeney-Cox syndrome1Nov 14, 2018
Symmetrical dyschromatosis of extremities1Nov 14, 2018
Syndromic X-linked intellectual disability Lubs type10Nov 14, 2018
Syndromic X-linked intellectual disability Turner type2Nov 14, 2018
Systemic lupus erythematosus3Nov 14, 2018
Takenouchi-Kosaki syndrome1Nov 14, 2018
Tay-Sachs disease5Nov 14, 2018
Telangiectasia, hereditary hemorrhagic, type 25Nov 14, 2018
Temtamy syndrome1Nov 14, 2018
Tenorio syndrome1Nov 14, 2018
Terminal osseous dysplasia8Nov 14, 2018
Testicular anomalies with or without congenital heart disease1Nov 14, 2018
Tetralogy of Fallot8Nov 14, 2018
Thanatophoric dysplasia type 19Nov 14, 2018
Thanatophoric dysplasia, type 29Nov 14, 2018
Three M syndrome 11Nov 14, 2018
Three M syndrome 21Nov 14, 2018
Thrombocythemia 11Nov 14, 2018
Thrombocythemia 31Nov 14, 2018
Thrombocytopenia 21Nov 14, 2018
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis1Nov 14, 2018
Thrombocytosis, benign familial microcytic1Nov 14, 2018
Thrombophilia due to activated protein C resistance1Nov 14, 2018
Thrombophilia due to thrombin defect1Nov 14, 2018
Thyroid cancer, nonmedullary, 27Nov 14, 2018
Thyroid dyshormonogenesis 61Nov 14, 2018
Thyrotoxic periodic paralysis, susceptibility to, 14Nov 14, 2018
Tibial muscular dystrophy125Nov 14, 2018
Timothy syndrome10Nov 14, 2018
Tobacco addiction, susceptibility to6Nov 14, 2018
Tooth agenesis, selective, 42Nov 14, 2018
Tooth agenesis, selective, X-linked, 12Nov 14, 2018
Torsion dystonia 61Nov 14, 2018
Tracheoesophageal fistula13May 23, 2017
Transferrin serum level quantitative trait locus 22Nov 14, 2018
Transient bullous dermolysis of the newborn10Nov 14, 2018
Transient neonatal diabetes mellitus 28Nov 14, 2018
Transient neonatal diabetes mellitus 33Nov 14, 2018
Transposition of the great arteries, dextro-looped 11Nov 14, 2018
Tremor, hereditary essential, 41Nov 14, 2018
Trichohepatoenteric syndrome 11Nov 14, 2018
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1Nov 14, 2018
Trichothiodystrophy 1, photosensitive4Nov 14, 2018
Trichothiodystrophy 2, photosensitive1Nov 14, 2018
Trigonocephaly 12Nov 14, 2018
Trigonocephaly 21Nov 14, 2018
Trimethylaminuria1Nov 14, 2018
Tropical calcific pancreatitis1Nov 14, 2018
Troyer syndrome1Nov 14, 2018
Trypsinogen deficiency2Nov 14, 2018
Tuberous sclerosis 17Nov 14, 2018
Tuberous sclerosis 220Nov 14, 2018
Tumor susceptibility linked to germline BAP1 mutations8Nov 14, 2018
Turcot syndrome131Nov 14, 2018
Type 2 diabetes mellitus42Nov 14, 2018
Tyrosinase-negative oculocutaneous albinism14Nov 14, 2018
Tyrosinase-positive oculocutaneous albinism13Nov 14, 2018
Tyrosinemia type I5Nov 14, 2018
UV-sensitive syndrome 19Nov 14, 2018
UV-sensitive syndrome 22Nov 14, 2018
Ullrich congenital muscular dystrophy 116Nov 14, 2018
Ullrich congenital muscular dystrophy 210Nov 14, 2018
Unverricht-Lundborg syndrome1Nov 14, 2018
Urinary bladder cancer20Nov 14, 2018
Urocanate hydratase deficiency1Nov 14, 2018
Usher syndrome type 121Nov 14, 2018
Usher syndrome type 1D25Nov 14, 2018
Usher syndrome type 1F6Nov 14, 2018
Usher syndrome, type 1C2Nov 14, 2018
Usher syndrome, type 2A25Nov 14, 2018
Usher syndrome, type 2C27Nov 14, 2018
VACTERL association with hydrocephalus19Nov 14, 2018
VACTERL association, X-linked, with or without hydrocephalus2Nov 14, 2018
Van Buchem disease type 22Nov 14, 2018
Van der Woude syndrome1Nov 14, 2018
Variegate porphyria2Nov 14, 2018
Ventricular septal defect 11Nov 14, 2018
Ventricular tachycardia, catecholaminergic polymorphic, 23Nov 14, 2018
Very long chain acyl-CoA dehydrogenase deficiency3Nov 14, 2018
Vici syndrome1Nov 14, 2018
Visceral myopathy5Mar 9, 2020
Vitelliform macular dystrophy type 21Nov 14, 2018
Vitreoretinochoroidopathy1Nov 14, 2018
Von Hippel-Lindau syndrome7Nov 14, 2018
Von Willebrand disease, recessive form4Nov 14, 2018
Waardenburg syndrome type 12Nov 14, 2018
Waardenburg syndrome type 2E1Nov 14, 2018
Waardenburg syndrome type 4C1Nov 14, 2018
Warburg micro syndrome 22Nov 14, 2018
Weaver syndrome1Nov 14, 2018
Weill-Marchesani syndrome 227Nov 14, 2018
Werner syndrome10Nov 14, 2018
Wiedemann-Steiner syndrome1Nov 14, 2018
Williams syndrome3Nov 14, 2018
Wilms tumor 158Nov 14, 2018
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome4Nov 14, 2018
Wilson disease12Nov 14, 2018
Wiskott-Aldrich syndrome1Nov 14, 2018
Wolcott-Rallison dysplasia2Nov 14, 2018
Wolff-Parkinson-White pattern2Nov 14, 2018
Wolfram-like syndrome, autosomal dominant15Nov 14, 2018
Worth disease2Nov 14, 2018
Wrinkly skin syndrome4Nov 14, 2018
X-linked intellectual disability-hypotonic face syndrome5Nov 14, 2018
X-linked mental retardation with marfanoid habitus syndrome4Nov 14, 2018
X-linked severe combined immunodeficiency1Nov 14, 2018
X-linked severe congenital neutropenia1Nov 14, 2018
X-linked thrombocytopenia with normal platelets1Nov 14, 2018
XFE progeroid syndrome2Nov 14, 2018
Xeroderma pigmentosum group A3Nov 14, 2018
Xeroderma pigmentosum, complementation group b1Nov 14, 2018
Xeroderma pigmentosum, group C3Nov 14, 2018
Xeroderma pigmentosum, group D4Nov 14, 2018
Xeroderma pigmentosum, group F2Nov 14, 2018
Xeroderma pigmentosum, group G2Nov 14, 2018
Yao syndrome1Nov 14, 2018
You-Hoover-Fong syndrome1Nov 14, 2018
Yunis-Varon syndrome1Nov 14, 2018
alpha Thalassemia11Nov 14, 2018
beta Thalassemia11Nov 14, 2018
not provided4Nov 14, 2018
not specified13Jul 27, 2020
von Willebrand disease type 14Nov 14, 2018
von Willebrand disease type 24Nov 14, 2018

Testing in GTR

Disease nameNumber of tests
11 pairs of ribs2 tests
2,4-Dienoyl-CoA reductase deficiency3 tests
2-3 toe syndactyly6 tests
2-4 toe syndactyly3 tests
2-aminoadipic 2-oxoadipic aciduria5 tests
22q13.3 deletion syndrome5 tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency11 tests
3 beta-Hydroxysteroid dehydrogenase deficiency9 tests
3-4 finger cutaneous syndactyly3 tests
3-4 finger syndactyly2 tests
3-Methylglutaconic aciduria type 118 tests
3-Methylglutaconic aciduria type 217 tests
3-Methylglutaconic aciduria type 318 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency6 tests
3-methylcrotonyl CoA carboxylase 2 deficiency11 tests
3-methylglutaconic aciduria type V8 tests
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia6 tests
3MC syndrome 14 tests
3MC syndrome 24 tests
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy5 tests
46,XY sex reversal 84 tests
46,XY sex reversal, type 211 tests
46,XY sex reversal, type 36 tests
46,XY sex reversal, type 55 tests
46,XY sex reversal, type 65 tests
46,XY sex reversal, type 75 tests
5-Oxoprolinase deficiency2 tests
ABCD syndrome7 tests
ABri amyloidosis6 tests
ACTH resistance4 tests
ACTN3 deficiency1 test
ADULT syndrome6 tests
ADan amyloidosis6 tests
AICAR transformylase/IMP cyclohydrolase deficiency6 tests
ALG1-CDG10 tests
ALG12-congenital disorder of glycosylation8 tests
ALG2-CDG10 tests
ALG3-CDG9 tests
ALG8-CDG6 tests
ALG9 congenital disorder of glycosylation7 tests
Aarskog syndrome8 tests
Abdominal aortic aneurysm5 tests
Abdominal distention2 tests
Abdominal obesity3 tests
Abdominal pain11 tests
Abetalipoproteinaemia13 tests
Abnormal activity of mitochondrial respiratory chain1 test
Abnormal aortic morphology8 tests
Abnormal bleeding2 tests
Abnormal blistering of the skin14 tests
Abnormal carotid artery morphology1 test
Abnormal ciliary motility6 tests
Abnormal dermatoglyphics17 tests
Abnormal electroretinogram25 tests
Abnormal eyebrow morphology13 tests
Abnormal facial shape38 tests
Abnormal form of the vertebral bodies12 tests
Abnormal glycosylation (CDG IIa)1 test
Abnormal hair quantity46 tests
Abnormal hair whorl6 tests
Abnormal immunoglobulin level3 tests
Abnormal localization of kidney18 tests
Abnormal lower motor neuron morphology6 tests
Abnormal lung lobation5 tests
Abnormal macular morphology14 tests
Abnormal morphology of the left ventricle6 tests
Abnormal nasal morphology11 tests
Abnormal nipple morphology17 tests
Abnormal pattern of respiration12 tests
Abnormal pericardium morphology4 tests
Abnormal posturing3 tests
Abnormal pulmonary valve morphology22 tests
Abnormal pupil morphology2 tests
Abnormal pyramidal signs14 tests
Abnormal renal physiology1 test
Abnormal salivary gland morphology5 tests
Abnormal toenail morphology3 tests
Abnormal vertebral ossification1 test
Abnormality of abdomen morphology5 tests
Abnormality of blood and blood-forming tissues2 tests
Abnormality of bone marrow cell morphology3 tests
Abnormality of bone mineral density12 tests
Abnormality of branched chain family amino acid metabolism5 tests
Abnormality of buccal mucosa1 test
Abnormality of calvarial morphology8 tests
Abnormality of cells of the granulocytic lineage3 tests
Abnormality of cells of the megakaryocyte lineage4 tests
Abnormality of chromosome stability2 tests
Abnormality of coagulation40 tests
Abnormality of color vision23 tests
Abnormality of connective tissue2 tests
Abnormality of dental color10 tests
Abnormality of dental enamel16 tests
Abnormality of dental morphology12 tests
Abnormality of dentin3 tests
Abnormality of epiphysis morphology7 tests
Abnormality of erythrocytes2 tests
Abnormality of extrapyramidal motor function18 tests
Abnormality of eye movement9 tests
Abnormality of female external genitalia18 tests
Abnormality of female internal genitalia26 tests
Abnormality of femur morphology3 tests
Abnormality of fibula morphology2 tests
Abnormality of finger9 tests
Abnormality of immune system physiology24 tests
Abnormality of leukocytes14 tests
Abnormality of lipid metabolism1 test
Abnormality of macular pigmentation2 tests
Abnormality of metabolism/homeostasis35 tests
Abnormality of mitochondrial metabolism4 tests
Abnormality of neutrophils22 tests
Abnormality of pelvic girdle bone morphology14 tests
Abnormality of reproductive system physiology1 test
Abnormality of retinal pigmentation54 tests
Abnormality of saccadic eye movements8 tests
Abnormality of skin pigmentation7 tests
Abnormality of temperature regulation6 tests
Abnormality of the abdominal musculature2 tests
Abnormality of the acetabulum8 tests
Abnormality of the ankles2 tests
Abnormality of the antihelix3 tests
Abnormality of the antitragus3 tests
Abnormality of the aortic valve3 tests
Abnormality of the aryepiglottic fold1 test
Abnormality of the autonomic nervous system13 tests
Abnormality of the bronchi9 tests
Abnormality of the cardiac septa23 tests
Abnormality of the cardiovascular system1 test
Abnormality of the carpal bones3 tests
Abnormality of the clavicle14 tests
Abnormality of the coagulation cascade2 tests
Abnormality of the columella3 tests
Abnormality of the corpus callosum5 tests
Abnormality of the dentition29 tests
Abnormality of the diaphragm1 test
Abnormality of the endocardium2 tests
Abnormality of the endocrine system3 tests
Abnormality of the eye11 tests
Abnormality of the eyelashes11 tests
Abnormality of the eyelid7 tests
Abnormality of the fingernails25 tests
Abnormality of the fontanelles or cranial sutures9 tests
Abnormality of the foot19 tests
Abnormality of the gastric mucosa5 tests
Abnormality of the gastrointestinal tract6 tests
Abnormality of the genital system14 tests
Abnormality of the gingiva1 test
Abnormality of the hand5 tests
Abnormality of the helix30 tests
Abnormality of the hip bone15 tests
Abnormality of the hypothalamus-pituitary axis16 tests
Abnormality of the immune system3 tests
Abnormality of the intervertebral disk9 tests
Abnormality of the intestine1 test
Abnormality of the kidney4 tests
Abnormality of the larynx4 tests
Abnormality of the liver15 tests
Abnormality of the lymphatic system6 tests
Abnormality of the medullary cavity of the long bones3 tests
Abnormality of the menstrual cycle12 tests
Abnormality of the metacarpal bones29 tests
Abnormality of the metaphysis17 tests
Abnormality of the mitral valve10 tests
Abnormality of the musculature5 tests
Abnormality of the nail25 tests
Abnormality of the nares3 tests
Abnormality of the nose7 tests
Abnormality of the oral cavity16 tests
Abnormality of the outer ear3 tests
Abnormality of the palate42 tests
Abnormality of the penis1 test
Abnormality of the peritoneum2 tests
Abnormality of the periventricular white matter10 tests
Abnormality of the pharynx15 tests
Abnormality of the philtrum2 tests
Abnormality of the pinna19 tests
Abnormality of the pleura4 tests
Abnormality of the preputium1 test
Abnormality of the pulmonary artery17 tests
Abnormality of the renal tubule6 tests
Abnormality of the respiratory system3 tests
Abnormality of the retinal vasculature20 tests
Abnormality of the ribs15 tests
Abnormality of the sacrum4 tests
Abnormality of the sense of smell8 tests
Abnormality of the skeletal system11 tests
Abnormality of the skin17 tests
Abnormality of the skull2 tests
Abnormality of the spleen22 tests
Abnormality of the sternum16 tests
Abnormality of the testis38 tests
Abnormality of the thorax10 tests
Abnormality of the thymus3 tests
Abnormality of the thyroid gland5 tests
Abnormality of the tongue6 tests
Abnormality of the tragus3 tests
Abnormality of the tricuspid valve8 tests
Abnormality of the ulna3 tests
Abnormality of the upper urinary tract10 tests
Abnormality of the ureter4 tests
Abnormality of the urethra1 test
Abnormality of the urinary system6 tests
Abnormality of the vagina2 tests
Abnormality of the vitreous humor13 tests
Abnormality of the voice26 tests
Abnormality of the wrist3 tests
Abnormality of thrombocytes19 tests
Abnormality of thumb phalanx1 test
Abnormality of tibia morphology3 tests
Abnormality of toe8 tests
Abnormality of visual evoked potentials9 tests
Abruzzo-Erickson syndrome3 tests
Absence of subcutaneous fat2 tests
Absence seizures11 tests
Absent Achilles reflex1 test
Absent axillary hair1 test
Absent earlobe9 tests
Absent facial hair1 test
Absent hand7 tests
Absent nail of hallux1 test
Absent outer dynein arms7 tests
Absent radius9 tests
Absent septum pellucidum1 test
Absent speech28 tests
Absent thumb4 tests
Acanthocytosis4 tests
Acanthosis nigricans2 tests
Acatalasia3 tests
Accelerated skeletal maturation1 test
Accelerated tumor formation, susceptibility to2 tests
Accessory oral frenulum7 tests
Accessory spleen9 tests
Acetabular spurs1 test
Acetyl-CoA acetyltransferase-2 deficiency7 tests
Acetyl-CoA: carboxylase deficiency4 tests
Achalasia4 tests
Acheiropodia3 tests
Achilles tendon contracture4 tests
Achondrogenesis type II20 tests
Achondrogenesis, type IA3 tests
Achondrogenesis, type IB10 tests
Achondroplasia17 tests
Achromatopsia4 tests
Achromatopsia 25 tests
Achromatopsia 311 tests
Achromatopsia 45 tests
Acid-labile subunit deficiency2 tests
Acidosis3 tests
Acne5 tests
Acne inversa, familial, 23 tests
Acne inversa, familial, 36 tests
Acquired hemoglobin H disease12 tests
Acquired partial lipodystrophy2 tests
Acquired porencephaly17 tests
Acrocallosal syndrome13 tests
Acrocapitofemoral dysplasia5 tests
Acrocephalosyndactyly type I10 tests
Acrocyanosis9 tests
Acrodysostosis12 tests
Acrodysostosis 2, with or without hormone resistance4 tests
Acroerythrokeratoderma3 tests
Acrofacial dysostosis, Cincinnati type1 test
Acrokeratosis verruciformis of Hopf6 tests
Acromesomelic dysplasia, Demirhan type4 tests
Acromesomelic dysplasia, Hunter-Thompson type4 tests
Acromesomelic dysplasia, Maroteaux type4 tests
Acromicric dysplasia17 tests
Acroosteolysis3 tests
Action tremor1 test
Aculeiform cataract3 tests
Acute alcohol sensitivity3 tests
Acute febrile mucocutaneous lymph node syndrome3 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins11 tests
Acute intermittent porphyria4 tests
Acute kidney injury6 tests
Acute leukemia8 tests
Acute lymphoid leukemia36 tests
Acute monocytic leukemia2 tests
Acute myeloid leukemia18 tests
Acute myelomonocytic leukemia M42 tests
Acute neuronopathic Gaucher's disease16 tests
Acute promyelocytic leukemia3 tests
Acyl-CoA dehydrogenase family, member 9, deficiency of14 tests
Adactyly5 tests
Adams-Oliver syndrome3 tests
Adams-Oliver syndrome 14 tests
Adams-Oliver syndrome 23 tests
Addison's disease14 tests
Adducted thumb17 tests
Adenine phosphoribosyltransferase deficiency3 tests
Adenoma sebaceum9 tests
Adenomatous colonic polyposis8 tests
Adenosine triphosphate, elevated, of erythrocytes5 tests
Adenylate kinase deficiency, hemolytic anemia due to2 tests
Adenylosuccinate lyase deficiency11 tests
Adermatoglyphia3 tests
Adolescent alopeciam dentogingival abnormalitites and intellectual disability3 tests
Adrenal insufficiency5 tests
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete5 tests
Adrenal medullary hypoplasia1 test
Adrenocortical carcinoma, hereditary27 tests
Adrenocorticotropic hormone deficiency2 tests
Adrenoleukodystrophy15 tests
Adult hypophosphatasia12 tests
Adult neuronal ceroid lipofuscinosis17 tests
Adult proximal spinal muscular atrophy, autosomal dominant4 tests
Advanced sleep phase syndrome, familial, 22 tests
Afibrinogenemia11 tests
Agammaglobulinemia4 tests
Agammaglobulinemia 2, autosomal recessive5 tests
Agammaglobulinemia 3, autosomal recessive5 tests
Agammaglobulinemia 4, autosomal recessive5 tests
Agammaglobulinemia 5, autosomal dominant5 tests
Agammaglobulinemia 6, autosomal recessive5 tests
Agammaglobulinemia 7, autosomal recessive5 tests
Aganglionic megacolon20 tests
Age-related macular degeneration 110 tests
Age-related macular degeneration 103 tests
Age-related macular degeneration 113 tests
Age-related macular degeneration 123 tests
Age-related macular degeneration 137 tests
Age-related macular degeneration 146 tests
Age-related macular degeneration 28 tests
Age-related macular degeneration 36 tests
Age-related macular degeneration 49 tests
Age-related macular degeneration 515 tests
Age-related macular degeneration 66 tests
Age-related macular degeneration 76 tests
Age-related macular degeneration 84 tests
Age-related macular degeneration 96 tests
Agenesis of mandibular central incisor1 test
Agenesis of permanent teeth3 tests
Agenesis of the corpus callosum with peripheral neuropathy9 tests
Aggressive behavior32 tests
Agitation2 tests
Agnathia-otocephaly complex2 tests
Aicardi Goutieres syndrome4 tests
Aicardi Goutieres syndrome 19 tests
Aicardi Goutieres syndrome 29 tests
Aicardi Goutieres syndrome 39 tests
Aicardi Goutieres syndrome 49 tests
Aicardi Goutieres syndrome 514 tests
Aicardi-Goutieres syndrome 68 tests
Aicardi-Goutieres syndrome 74 tests
Alacrima4 tests
Alacrima, achalasia, and mental retardation syndrome4 tests
Alagille syndrome 19 tests
Alagille syndrome 210 tests
Alazami syndrome1 test
Albinism3 tests
Albinism, ocular, with sensorineural deafness13 tests
Alcohol dependence7 tests
Aldosterone-producing adrenal cortex adenoma3 tests
Alexander Disease13 tests
Alkaptonuria7 tests
Allan-Herndon-Dudley syndrome12 tests
Allergic rhinitis7 tests
Alopecia33 tests
Alopecia universalis congenita3 tests
Alopecia, neurologic defects, and endocrinopathy syndrome2 tests
Alpers encephalopathy4 tests
Alpha thalassemia-X-linked intellectual disability syndrome12 tests
Alpha-1-antitrypsin deficiency8 tests
Alpha-2-macroglobulin deficiency3 tests
Alpha-2-plasmin inhibitor deficiency4 tests
Alpha-N-acetylgalactosaminidase deficiency type 15 tests
Alpha-N-acetylgalactosaminidase deficiency type 25 tests
Alpha-fetoprotein deficiency2 tests
Alpha-methylacyl-CoA racemase deficiency10 tests
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity10 tests
Alport syndrome 1, X-linked recessive8 tests
Alport syndrome 3, autosomal dominant13 tests
Alport syndrome, autosomal recessive14 tests
Alstrom syndrome17 tests
Alternating hemiplegia of childhood9 tests
Alternating hemiplegia of childhood 27 tests
Alveolar cell carcinoma4 tests
Alveolar rhabdomyosarcoma (disease)8 tests
Alveolar soft part sarcoma (disease)1 test
Alzheimer disease24 tests
Alzheimer disease 182 tests
Alzheimer disease 26 tests
Alzheimer disease, type 36 tests
Alzheimer disease, type 410 tests
Amaurosis fugax9 tests
Ambiguous genitalia22 tests
Amblyopia6 tests
Amelogenesis imperfecta6 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local3 tests
Amelogenesis imperfecta type 1G3 tests
Amelogenesis imperfecta, hypocalcification type3 tests
Amelogenesis imperfecta, hypomaturation type IIA52 tests
Amelogenesis imperfecta, hypomaturation type, IIA13 tests
Amelogenesis imperfecta, hypomaturation type, IIA23 tests
Amelogenesis imperfecta, hypomaturation type, IIA33 tests
Amelogenesis imperfecta, type 1E3 tests
Amelogenesis imperfecta, type IC3 tests
Amelogenesis imperfecta, type IV4 tests
Aminoaciduria18 tests
Aminoacylase 1 deficiency8 tests
Aminoglycoside-induced deafness11 tests
Amish lethal microcephaly7 tests
Amyloidogenic transthyretin amyloidosis12 tests
Amyloidosis, primary localized cutaneous, 22 tests
Amyotrophic lateral sclerosis10 tests
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia6 tests
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia3 tests
Amyotrophic lateral sclerosis 16, juvenile3 tests
Amyotrophic lateral sclerosis 174 tests
Amyotrophic lateral sclerosis 182 tests
Amyotrophic lateral sclerosis 193 tests
Amyotrophic lateral sclerosis 214 tests
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia3 tests
Amyotrophic lateral sclerosis and/or frontotemporal dementia 19 tests
Amyotrophic lateral sclerosis type 110 tests
Amyotrophic lateral sclerosis type 103 tests
Amyotrophic lateral sclerosis type 116 tests
Amyotrophic lateral sclerosis type 126 tests
Amyotrophic lateral sclerosis type 27 tests
Amyotrophic lateral sclerosis type 49 tests
Amyotrophic lateral sclerosis type 84 tests
Amyotrophic lateral sclerosis type 93 tests
Amyotrophic lateral sclerosis-parkinsonism-dementia complex5 tests
Analbuminemia2 tests
Anaphylotoxin inactivator deficiency2 tests
Anauxetic dysplasia 116 tests
Andersen Tawil syndrome14 tests
Androgen insufficiency5 tests
Androgen resistance syndrome6 tests
Anemia40 tests
Anemia without thromobocytopenia, X-linked9 tests
Anemia, hypochromic microcytic, with iron overload 13 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency20 tests
Anemia, sideroblastic, 16 tests
Anemia, sideroblastic, 2, pyridoxine-refractory6 tests
Anencephalus1 test
Angelman syndrome19 tests
Angioedema induced by ACE inhibitors, susceptibility to2 tests
Angioid streaks6 tests
Angiomatoid fibrous histiocytoma2 tests
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps16 tests
Aniridia 128 tests
Anisocoria4 tests
Anisocytosis4 tests
Anisopoikilocytosis4 tests
Ankle clonus4 tests
Ankle contracture9 tests
Annular pancreas4 tests
Anodontia4 tests
Anonychia23 tests
Anophthalmia4 tests
Anophthalmia-microphthalmia syndrome4 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome12 tests
Anorexia nervosa 14 tests
Anosmia2 tests
Anterior creases of earlobe6 tests
Anterior hypopituitarism12 tests
Anterior open-bite malocclusion5 tests
Anterior rib cupping1 test
Anterior segment dysgenesis 19 tests
Anterior segment dysgenesis 39 tests
Anterior segment dysgenesis 49 tests
Anterior segment dysgenesis 75 tests
Anteriorly placed anus1 test
Anteverted nares55 tests
Antigen in Cartwright blood group system1 test
Antithrombin III deficiency5 tests
Antley-Bixler syndrome13 tests
Anxiety11 tests
Aortic aneurysm7 tests
Aortic aneurysm, familial thoracic 46 tests
Aortic aneurysm, familial thoracic 67 tests
Aortic aneurysm, familial thoracic 75 tests
Aortic root dilatation1 test
Aortic valve disease 25 tests
Aortic valve disorder8 tests
Apathy6 tests
Aplasia cutis congenita (disease)7 tests
Aplasia cutis congenita over the scalp vertex1 test
Aplasia of the epiglottis1 test
Aplasia of the middle phalanx of the hand4 tests
Aplasia of the ulna9 tests
Aplasia/Hypoplasia affecting the eye42 tests
Aplasia/Hypoplasia involving the central nervous system6 tests
Aplasia/Hypoplasia involving the nose3 tests
Aplasia/Hypoplasia of the abdominal wall musculature19 tests
Aplasia/Hypoplasia of the cerebellum54 tests
Aplasia/Hypoplasia of the corpus callosum38 tests
Aplasia/Hypoplasia of the distal phalanges of the toes4 tests
Aplasia/Hypoplasia of the earlobes19 tests
Aplasia/Hypoplasia of the eyebrow10 tests
Aplasia/Hypoplasia of the hallux2 tests
Aplasia/Hypoplasia of the iris5 tests
Aplasia/Hypoplasia of the lungs17 tests
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger2 tests
Aplasia/Hypoplasia of the middle phalanx of the 5th finger2 tests
Aplasia/Hypoplasia of the nipples3 tests
Aplasia/Hypoplasia of the pancreas4 tests
Aplasia/Hypoplasia of the radius10 tests
Aplasia/Hypoplasia of the skin23 tests
Aplasia/Hypoplasia of the thumb11 tests
Aplasia/Hypoplasia of the thymus5 tests
Aplasia/Hypoplasia of the uvula1 test
Aplastic anemia33 tests
Aplastic/hypoplastic toenail18 tests
Apnea31 tests
Apocrine gland secretion, variation in2 tests
Apolipoprotein C2 deficiency3 tests
Apparent mineralocorticoid excess4 tests
Apraxia4 tests
Arachnodactyly10 tests
Arachnoid cyst8 tests
Areflexia39 tests
Arginase deficiency16 tests
Arginine:glycine amidinotransferase deficiency8 tests
Argininosuccinate lyase deficiency10 tests
Aromatase deficiency10 tests
Aromatase excess syndrome10 tests
Arrhythmia1 test
Arrhythmogenic right ventricular cardiomyopathy8 tests
Arrhythmogenic right ventricular cardiomyopathy, type 1010 tests
Arrhythmogenic right ventricular cardiomyopathy, type 1110 tests
Arrhythmogenic right ventricular cardiomyopathy, type 129 tests
Arrhythmogenic right ventricular cardiomyopathy, type 512 tests
Arrhythmogenic right ventricular dysplasia 812 tests
Arrhythmogenic right ventricular dysplasia 911 tests
Arrhythmogenic right ventricular dysplasia, familial 111 tests
Arrhythmogenic right ventricular dysplasia, familial, 136 tests
Arrhythmogenic right ventricular dysplasia, familial, 215 tests
Arterial calcification, generalized, of infancy, 19 tests
Arterial thrombosis3 tests
Arterial tortuosity syndrome7 tests
Arteriovenous malformation5 tests
Arthralgia18 tests
Arthritis14 tests
Arthrogryposis multiplex congenita25 tests
Arthrogryposis, renal dysfunction, and cholestasis 15 tests
Arthrogryposis, renal dysfunction, and cholestasis 23 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome4 tests
Arthropathy3 tests
Arts syndrome16 tests
Ascites13 tests
Asparagine synthetase deficiency9 tests
Aspartate aminotransferase, serum level of, quantitative trait locus 12 tests
Aspartylglucosaminuria11 tests
Asperger syndrome X-linked 15 tests
Asperger syndrome X-linked 25 tests
Aspergillosis, susceptibility to3 tests
Asphyxiating thoracic dystrophy 27 tests
Asphyxiating thoracic dystrophy 412 tests
Asphyxiating thoracic dystrophy 58 tests
Aspiration pneumonia2 tests
Asplenia5 tests
Asplenia, isolated congenital2 tests
Asthma18 tests
Asthma, nasal polyps, and aspirin intolerance3 tests
Asthma, susceptibility to13 tests
Asthma-related traits, susceptibility to, 12 tests
Asthma-related traits, susceptibility to, 22 tests
Asthma-related traits, susceptibility to, 52 tests
Asthma-related traits, susceptibility to, 72 tests
Astigmatism9 tests
Asymmetric growth9 tests
Asymmetry of the thorax8 tests
Ataxia69 tests
Ataxia, sensory, autosomal dominant2 tests
Ataxia, spastic, 3, autosomal recessive6 tests
Ataxia, spastic, 4, autosomal recessive7 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome7 tests
Ataxia-oculomotor apraxia 32 tests
Ataxia-oculomotor apraxia type 112 tests
Ataxia-telangiectasia syndrome25 tests
Atelectasis9 tests
Ateleiotic dwarfism6 tests
Atelosteogenesis type 110 tests
Atelosteogenesis type II10 tests
Atelosteogenesis type III10 tests
Athetosis12 tests
Atonic seizures6 tests
Atransferrinemia2 tests
Atresia of the external auditory canal7 tests
Atrial fibrillation7 tests
Atrial fibrillation, familial, 1018 tests
Atrial fibrillation, familial, 117 tests
Atrial fibrillation, familial, 1211 tests
Atrial fibrillation, familial, 1314 tests
Atrial fibrillation, familial, 146 tests
Atrial fibrillation, familial, 153 tests
Atrial fibrillation, familial, 316 tests
Atrial fibrillation, familial, 410 tests
Atrial fibrillation, familial, 68 tests
Atrial fibrillation, familial, 77 tests
Atrial fibrillation, familial, 914 tests
Atrial flutter2 tests
Atrial septal defect42 tests
Atrial septal defect 29 tests
Atrial septal defect 38 tests
Atrial septal defect 46 tests
Atrial septal defect 510 tests
Atrial septal defect 64 tests
Atrial septal defect 7 with or without atrioventricular conduction defects13 tests
Atrial septal defect 83 tests
Atrial septal defect 99 tests
Atrial standstill 17 tests
Atrial standstill 28 tests
Atrichia with papular lesions3 tests
Atrioventricular septal defect5 tests
Atrioventricular septal defect 24 tests
Atrioventricular septal defect 310 tests
Atrioventricular septal defect 49 tests
Atrioventricular septal defect 59 tests
Atrophia bulborum hereditaria11 tests
Atrophoderma vermiculatum2 tests
Attention deficit hyperactivity disorder13 tests
Attention deficit-hyperactivity disorder 76 tests
Attenuated familial adenomatous polyposis12 tests
Attenuation of retinal blood vessels6 tests
Atypical hemolytic uremic syndrome7 tests
Atypical hemolytic-uremic syndrome 19 tests
Atypical hemolytic-uremic syndrome 24 tests
Atypical hemolytic-uremic syndrome 37 tests
Atypical hemolytic-uremic syndrome 45 tests
Atypical hemolytic-uremic syndrome 56 tests
Atypical hemolytic-uremic syndrome 67 tests
Atypical mycobacteriosis, familial, X-linked 26 tests
Atypical scarring of skin14 tests
Auditory hallucinations