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Revvity Omics (Revvity)

General information

Revvity Omics
Revvity
250 Industry Drive Suite 400
Pittsburgh
Pennsylvania
United States - 15275-1017
https://www.revvity.com/category/clinical-genomic-services
Organization ID: 167595

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 50055

Gene

GeneSubmissionsLast Updated
A2ML113Aug 19, 2025
A2ML1-AS12Aug 19, 2025
AAAS11Aug 19, 2025
AAGAB3Aug 19, 2025
AARS119Aug 19, 2025
AARS210Aug 19, 2025
AASS2Aug 19, 2025
ABCA18Aug 19, 2025
ABCA129Aug 19, 2025
ABCA136Aug 19, 2025
ABCA214Aug 19, 2025
ABCA314Aug 19, 2025
ABCA464Aug 19, 2025
ABCA73Aug 19, 2025
ABCB1129Aug 19, 2025
ABCB420Aug 19, 2025
ABCB62Aug 19, 2025
ABCB72Aug 19, 2025
ABCC215Aug 19, 2025
ABCC639Aug 19, 2025
ABCC837Aug 19, 2025
ABCC910Aug 19, 2025
ABCD1218Aug 19, 2025
ABCD46Aug 19, 2025
ABCG589Aug 19, 2025
ABCG8118Aug 19, 2025
ABHD124Aug 19, 2025
ABHD52Aug 19, 2025
ABL16Aug 19, 2025
ACAD89Aug 19, 2025
ACAD919Aug 19, 2025
ACADM42Aug 19, 2025
ACADS17Aug 19, 2025
ACADSB10Aug 19, 2025
ACADVL73Aug 19, 2025
ACAN11Aug 19, 2025
ACAT112Aug 19, 2025
ACBD52Aug 19, 2025
ACBD64Aug 19, 2025
ACD1Aug 19, 2025
ACE6Aug 19, 2025
ACMSD1Aug 19, 2025
ACO23Aug 19, 2025
ACOX16Aug 19, 2025
ACOX22Aug 19, 2025
ACP53Aug 19, 2025
ACSF317Aug 19, 2025
ACSL43Aug 19, 2025
ACSM31Aug 19, 2025
ACTA134Aug 19, 2025
ACTA21Aug 19, 2025
ACTA2-AS11Aug 19, 2025
ACTB5Aug 19, 2025
ACTC12Aug 19, 2025
ACTG12Aug 19, 2025
ACTG23Aug 19, 2025
ACTL6B12Aug 19, 2025
ACTN12Aug 19, 2025
ACTN227Aug 19, 2025
ACTN42Aug 19, 2025
ACVR12Aug 19, 2025
ACVR2B2Aug 19, 2025
ACVRL17Aug 19, 2025
ACYP11Aug 19, 2025
ADA17Aug 19, 2025
ADA27Aug 19, 2025
ADAM102Aug 19, 2025
ADAM222Aug 19, 2025
ADAMTS104Aug 19, 2025
ADAMTS139Aug 19, 2025
ADAMTS171Aug 19, 2025
ADAMTS183Aug 19, 2025
ADAMTS28Aug 19, 2025
ADAMTSL24Aug 19, 2025
ADAMTSL49Aug 19, 2025
ADAMTSL4-AS28Aug 19, 2025
ADAR14Aug 19, 2025
ADARB15Aug 19, 2025
ADAT34Aug 19, 2025
ADCY106Aug 19, 2025
ADCY511Aug 19, 2025
ADCY62Aug 19, 2025
ADD32Aug 19, 2025
ADGRE21Aug 19, 2025
ADGRG17Aug 19, 2025
ADGRG41Aug 19, 2025
ADGRG63Aug 19, 2025
ADGRL14Aug 19, 2025
ADGRL1-AS14Aug 19, 2025
ADGRV119Aug 19, 2025
ADNP20Aug 19, 2025
ADNP-AS11Aug 19, 2025
ADPRS1Aug 19, 2025
ADRA2B6Aug 19, 2025
ADSL11Aug 19, 2025
ADSS119Aug 19, 2025
AEBP16Aug 19, 2025
AFF210Aug 19, 2025
AFF32Aug 19, 2025
AFF44Aug 19, 2025
AFG2A9Aug 19, 2025
AFG2B2Aug 19, 2025
AFG3L211Aug 19, 2025
AGA4Aug 19, 2025
AGA-DT2Aug 19, 2025
AGBL51Aug 19, 2025
AGK2Aug 19, 2025
AGL41Aug 19, 2025
AGMO1Aug 19, 2025
AGO11Aug 19, 2025
AGO23Aug 19, 2025
AGRN86Aug 19, 2025
AGT4Aug 19, 2025
AGTPBP18Aug 19, 2025
AGTR25Aug 19, 2025
AGXT26Aug 19, 2025
AHCY3Aug 19, 2025
AHDC121Aug 19, 2025
AHI117Aug 19, 2025
AICDA1Aug 19, 2025
AIFM15Aug 19, 2025
AIMP12Aug 19, 2025
AIP2Aug 19, 2025
AIPL17Aug 19, 2025
AIRE16Aug 19, 2025
AK122Aug 19, 2025
AK21Aug 19, 2025
AKAP912Aug 19, 2025
AKR1C21Aug 19, 2025
AKR1D14Aug 19, 2025
AKT11Aug 19, 2025
AKT23Aug 19, 2025
AKT31Aug 19, 2025
ALAD2Aug 19, 2025
ALAS239Aug 19, 2025
ALB1Aug 19, 2025
ALDH18A118Aug 19, 2025
ALDH1A31Aug 19, 2025
ALDH1A3-AS11Aug 19, 2025
ALDH3A27Aug 19, 2025
ALDH4A13Aug 19, 2025
ALDH5A111Aug 19, 2025
ALDH6A11Aug 19, 2025
ALDH7A129Aug 19, 2025
ALDOA44Aug 19, 2025
ALDOB6Aug 19, 2025
ALG17Aug 19, 2025
ALG114Aug 19, 2025
ALG125Aug 19, 2025
ALG1313Aug 19, 2025
ALG143Aug 19, 2025
ALG14-AS12Aug 19, 2025
ALG31Aug 19, 2025
ALG69Aug 19, 2025
ALG88Aug 19, 2025
ALK15Aug 19, 2025
ALMS120Aug 19, 2025
ALOX12B2Aug 19, 2025
ALOX151Aug 19, 2025
ALOXE34Aug 19, 2025
ALPK314Aug 19, 2025
ALPL20Aug 19, 2025
ALS210Aug 19, 2025
ALX41Aug 19, 2025
AMACR2Aug 19, 2025
AMELX1Aug 19, 2025
AMER110Aug 19, 2025
AMH2Aug 19, 2025
AMN2Aug 19, 2025
AMPD156Aug 19, 2025
AMPD22Aug 19, 2025
AMT12Aug 19, 2025
ANAPC12Aug 19, 2025
ANAPC151Aug 19, 2025
ANG1Aug 19, 2025
ANGPT21Aug 19, 2025
ANGPTL31Aug 19, 2025
ANK1406Aug 19, 2025
ANK217Aug 19, 2025
ANK316Aug 19, 2025
ANKH1Aug 19, 2025
ANKRD11Aug 19, 2025
ANKRD1141Aug 19, 2025
ANKRD178Aug 19, 2025
ANKRD2610Aug 19, 2025
ANKS63Aug 19, 2025
ANLN2Aug 19, 2025
ANO106Aug 19, 2025
ANO35Aug 19, 2025
ANO5174Aug 19, 2025
ANO64Aug 19, 2025
ANOS11Aug 19, 2025
ANTXR23Aug 19, 2025
ANXA113Aug 19, 2025
AOC11Aug 19, 2025
AOPEP11Aug 19, 2025
AP1G14Aug 19, 2025
AP1S31Aug 19, 2025
AP2M12Aug 19, 2025
AP2S11Aug 19, 2025
AP3B13Aug 19, 2025
AP3B27Aug 19, 2025
AP3D11Aug 19, 2025
AP4B16Aug 19, 2025
AP4B1-AS15Aug 19, 2025
AP4E15Aug 19, 2025
AP4M14Aug 19, 2025
AP4S15Aug 19, 2025
AP5Z112Aug 19, 2025
APBA21Aug 19, 2025
APBB12Aug 19, 2025
APC38Aug 19, 2025
APC213Aug 19, 2025
APOA13Aug 19, 2025
APOA1-AS2Aug 19, 2025
APOA21Aug 19, 2025
APOA52Aug 19, 2025
APOB30Aug 19, 2025
APOE1Aug 19, 2025
APP3Aug 19, 2025
APRT4Aug 19, 2025
APTX4Aug 19, 2025
AQP25Aug 19, 2025
AQP41Aug 19, 2025
AQP5-AS13Aug 19, 2025
AR9Aug 19, 2025
ARCN13Aug 19, 2025
ARF11Aug 19, 2025
ARFGEF16Aug 19, 2025
ARFGEF1-DT4Aug 19, 2025
ARFGEF29Aug 19, 2025
ARG17Aug 19, 2025
ARHGAP242Aug 19, 2025
ARHGAP3113Aug 19, 2025
ARHGAP61Aug 19, 2025
ARHGEF12Aug 19, 2025
ARHGEF104Aug 19, 2025
ARHGEF151Aug 19, 2025
ARHGEF182Aug 19, 2025
ARHGEF21Aug 19, 2025
ARHGEF61Aug 19, 2025
ARHGEF95Aug 19, 2025
ARID1A24Aug 19, 2025
ARID1B57Jan 26, 2024
ARID212Aug 19, 2025
ARL13B5Aug 19, 2025
ARL63Aug 19, 2025
ARMC52Aug 19, 2025
ARMC94Aug 19, 2025
ARPC1B1Aug 19, 2025
ARSA33Aug 19, 2025
ARSB39Aug 19, 2025
ARSL4Aug 19, 2025
ARV12Aug 19, 2025
ARX12Aug 19, 2025
ASAH120Aug 19, 2025
ASCC11Aug 19, 2025
ASCL11Aug 19, 2025
ASH1L47Aug 19, 2025
ASIC4-AS149Aug 19, 2025
ASL18Aug 19, 2025
ASMT4Jan 26, 2024
ASNS15Aug 19, 2025
ASPA10Aug 19, 2025
ASPM63Aug 19, 2025
ASS128Aug 19, 2025
ASTN286Aug 19, 2025
ASXL115Aug 19, 2025
ASXL214Aug 19, 2025
ASXL342Aug 19, 2025
ATAD3A11Aug 19, 2025
ATAD3B1Aug 19, 2025
ATCAY2Aug 19, 2025
ATF61Aug 19, 2025
ATIC2Aug 19, 2025
ATL112Aug 19, 2025
ATL32Aug 19, 2025
ATM111Aug 19, 2025
ATN116Aug 19, 2025
ATP10A4Aug 19, 2025
ATP11A1Aug 19, 2025
ATP11C38Aug 19, 2025
ATP13A213Aug 19, 2025
ATP13A31Aug 19, 2025
ATP13A41Aug 19, 2025
ATP1A11Aug 19, 2025
ATP1A1-AS11Aug 19, 2025
ATP1A222Aug 19, 2025
ATP1A321Aug 19, 2025
ATP1A41Aug 19, 2025
ATP2A1137Aug 19, 2025
ATP2A1-AS13Aug 19, 2025
ATP2A24Aug 19, 2025
ATP2B14Aug 19, 2025
ATP2B21Aug 19, 2025
ATP2B33Aug 19, 2025
ATP2B45Aug 19, 2025
ATP2C11Aug 19, 2025
ATP5F1A1Aug 19, 2025
ATP5F1D2Aug 19, 2025
ATP6AP15Aug 19, 2025
ATP6AP21Aug 19, 2025
ATP6V0A27Aug 19, 2025
ATP6V0A49Aug 19, 2025
ATP6V1A7Aug 19, 2025
ATP6V1B19Aug 19, 2025
ATP6V1B1-AS11Aug 19, 2025
ATP6V1B23Aug 19, 2025
ATP7A18Aug 19, 2025
ATP7B110Aug 19, 2025
ATP8A28Aug 19, 2025
ATP8B110Aug 19, 2025
ATP8B1-AS13Aug 19, 2025
ATP9A2Aug 19, 2025
ATPAF21Aug 19, 2025
ATR10Aug 19, 2025
ATRIP17Aug 19, 2025
ATRIP-TREX117Aug 19, 2025
ATRX30Aug 19, 2025
ATXN12Aug 19, 2025
ATXN21Aug 19, 2025
ATXN7L3-AS15Aug 19, 2025
AUH4Aug 19, 2025
AUTS230Aug 19, 2025
AVIL5Aug 19, 2025
AVP2Aug 19, 2025
AVPR25Aug 19, 2025
AXDND15Aug 19, 2025
AXIN28Aug 19, 2025
B3GALNT251Aug 19, 2025
B3GALT65Aug 19, 2025
B3GAT32Aug 19, 2025
B3GLCT2Aug 19, 2025
B3GNT41Aug 19, 2025
B4GALNT11Aug 19, 2025
B4GALNT42Aug 19, 2025
B4GALT11Aug 19, 2025
B4GALT75Aug 19, 2025
B4GAT17Aug 19, 2025
BACH21Aug 19, 2025
BAG370Aug 19, 2025
BAIAP2L11Aug 19, 2025
BANK11Aug 19, 2025
BAP15Aug 19, 2025
BARD125Aug 19, 2025
BBIP11Aug 19, 2025
BBOF11Aug 19, 2025
BBS113Aug 19, 2025
BBS1015Aug 19, 2025
BBS129Aug 19, 2025
BBS27Aug 19, 2025
BBS413Aug 19, 2025
BBS52Aug 19, 2025
BBS73Aug 19, 2025
BBS92Aug 19, 2025
BCAP312Aug 19, 2025
BCHE14Aug 19, 2025
BCKDHA15Aug 19, 2025
BCKDHB14Aug 19, 2025
BCKDK1Aug 19, 2025
BCL11A6Aug 19, 2025
BCL11B5Aug 19, 2025
BCL2L2-PABPN124Aug 19, 2025
BCL31Aug 19, 2025
BCL9L1Aug 19, 2025
BCOR11Aug 19, 2025
BCORL114Aug 19, 2025
BCS1L13Aug 19, 2025
BDP11Aug 19, 2025
BEST117Aug 19, 2025
BFSP23Aug 19, 2025
BFSP2-AS11Aug 19, 2025
BGN7Aug 19, 2025
BICC11Aug 19, 2025
BICD211Aug 19, 2025
BICRA9Aug 19, 2025
BIN139Aug 19, 2025
BIVM-ERCC58Aug 19, 2025
BLK2Aug 19, 2025
BLK-AS11Aug 19, 2025
BLM37Aug 19, 2025
BLNK1Aug 19, 2025
BLOC1S1-RDH54Aug 19, 2025
BLTP126Aug 19, 2025
BLVRA1Aug 19, 2025
BMP12Aug 19, 2025
BMP152Aug 19, 2025
BMP25Aug 19, 2025
BMP43Aug 19, 2025
BMP71Aug 19, 2025
BMPER8Aug 19, 2025
BMPR1A8Aug 19, 2025
BMPR1B1Aug 19, 2025
BMPR23Aug 19, 2025
BNAT11Jan 26, 2024
BOLA34Aug 19, 2025
BPGM1Aug 19, 2025
BPTF16Aug 19, 2025
BRAF12Aug 19, 2025
BRAT130Aug 19, 2025
BRCA1160Aug 19, 2025
BRCA2254Aug 19, 2025
BRF13Aug 19, 2025
BRI31Aug 19, 2025
BRIP146Aug 19, 2025
BRPF111Aug 19, 2025
BRSK27Aug 19, 2025
BRWD12Aug 19, 2025
BRWD311Aug 19, 2025
BSCL28Aug 19, 2025
BSND3Aug 19, 2025
BTD37Aug 19, 2025
BTK4Aug 19, 2025
BTNL21Aug 19, 2025
BUB1B5Aug 19, 2025
C10orf1055Aug 19, 2025
C10orf552Aug 19, 2025
C11orf6545Aug 19, 2025
C12orf573Aug 19, 2025
C12orf604Aug 19, 2025
C14orf391Aug 19, 2025
C17orf10760Aug 19, 2025
C19orf128Aug 19, 2025
C1QBP2Aug 19, 2025
C1QTNF3-AMACR2Aug 19, 2025
C1QTNF51Aug 19, 2025
C1R3Aug 19, 2025
C1S6Aug 19, 2025
C1orf1052Aug 19, 2025
C22Aug 19, 2025
C2CD36Aug 19, 2025
C32Aug 19, 2025
C3orf801Aug 19, 2025
C51Aug 19, 2025
C61Aug 19, 2025
C8A1Aug 19, 2025
C8B3Aug 19, 2025
C92Aug 19, 2025
C9orf721Aug 19, 2025
CA121Aug 19, 2025
CA21Aug 19, 2025
CA5A6Aug 19, 2025
CABP22Aug 19, 2025
CACNA1A71Aug 19, 2025
CACNA1B19Aug 19, 2025
CACNA1C21Aug 19, 2025
CACNA1C-AS16Aug 19, 2025
CACNA1D27Aug 19, 2025
CACNA1E19Aug 19, 2025
CACNA1F4Aug 19, 2025
CACNA1G22Aug 19, 2025
CACNA1H20Aug 19, 2025
CACNA1I9Aug 19, 2025
CACNA1S81Aug 19, 2025
CACNA2D28Aug 19, 2025
CACNA2D44Aug 19, 2025
CACNB26Aug 19, 2025
CACNB41Aug 19, 2025
CACNG21Aug 19, 2025
CAD7Aug 19, 2025
CADM31Aug 19, 2025
CADM3-AS11Aug 19, 2025
CALM11Aug 19, 2025
CAMK2A4Aug 19, 2025
CAMK2B4Aug 19, 2025
CAMK41Aug 19, 2025
CAMTA122Aug 19, 2025
CANT14Aug 19, 2025
CAP21Aug 19, 2025
CAPN16Aug 19, 2025
CAPN3273Aug 19, 2025
CAPN52Aug 19, 2025
CAPRIN11Aug 19, 2025
CARD117Aug 19, 2025
CARD141Aug 19, 2025
CARMIL26Aug 19, 2025
CARS25Aug 19, 2025
CASD141Aug 19, 2025
CASK12Aug 19, 2025
CASK-AS11Aug 19, 2025
CASP107Aug 19, 2025
CASP83Aug 19, 2025
CASQ117Aug 19, 2025
CASQ29Aug 19, 2025
CASR19Aug 19, 2025
CAST1Aug 19, 2025
CASTOR31Aug 19, 2025
CAT1Aug 19, 2025
CATIP-AS25Aug 19, 2025
CATSPER21Aug 19, 2025
CAV323Aug 19, 2025
CAVIN111Aug 19, 2025
CAVIN41Aug 19, 2025
CBL24Aug 19, 2025
CBLIF1Aug 19, 2025
CBS26Aug 19, 2025
CC2D1A14Aug 19, 2025
CC2D2A32Aug 19, 2025
CCBE12Aug 19, 2025
CCDC1071Jan 26, 2024
CCDC1411Aug 19, 2025
CCDC1741Aug 19, 2025
CCDC2212Aug 19, 2025
CCDC399Aug 19, 2025
CCDC4016Aug 19, 2025
CCDC661Aug 19, 2025
CCDC7816Aug 19, 2025
CCDC81Aug 19, 2025
CCDC85C1Aug 19, 2025
CCDC88A2Aug 19, 2025
CCDC88C11Aug 19, 2025
CCDST19Aug 19, 2025
CCM21Aug 19, 2025
CCN63Aug 19, 2025
CCND22Aug 19, 2025
CCNH9Aug 19, 2025
CCNK1Aug 19, 2025
CCNO2Aug 19, 2025
CCNT2-AS11Aug 19, 2025
CCPG11Aug 19, 2025
CCT54Aug 19, 2025
CD1511Aug 19, 2025
CD191Aug 19, 2025
CD271Aug 19, 2025
CD27-AS11Aug 19, 2025
CD2AP3Aug 19, 2025
CD3202Aug 19, 2025
CD3621Aug 19, 2025
CD3D1Aug 19, 2025
CD3E3Aug 19, 2025
CD40LG1Aug 19, 2025
CD462Aug 19, 2025
CD51Aug 19, 2025
CD552Aug 19, 2025
CD633Aug 19, 2025
CD812Aug 19, 2025
CD963Aug 19, 2025
CDAN1135Aug 19, 2025
CDC42BPB5Aug 19, 2025
CDC451Aug 19, 2025
CDC732Aug 19, 2025
CDCA71Aug 19, 2025
CDCA7L1Aug 19, 2025
CDH113Aug 19, 2025
CDH111Aug 19, 2025
CDH131Aug 19, 2025
CDH159Aug 19, 2025
CDH24Aug 19, 2025
CDH2-AS12Aug 19, 2025
CDH2328Aug 19, 2025
CDH23-AS11Aug 19, 2025
CDH33Aug 19, 2025
CDH3-AS11Aug 19, 2025
CDH51Aug 19, 2025
CDHR15Aug 19, 2025
CDIN110Aug 19, 2025
CDK103Aug 19, 2025
CDK1319Aug 19, 2025
CDK191Aug 19, 2025
CDK5RAP215Aug 19, 2025
CDK84Aug 19, 2025
CDKL512Aug 19, 2025
CDKN1B1Aug 19, 2025
CDKN1C12Aug 19, 2025
CDKN2A7Aug 19, 2025
CDON6Aug 19, 2025
CDT13Aug 19, 2025
CEBPA5Aug 19, 2025
CEBPE5Aug 19, 2025
CEL3Aug 19, 2025
CELF41Aug 19, 2025
CELSR12Aug 19, 2025
CELSR32Aug 19, 2025
CENPE1Aug 19, 2025
CENPF6Aug 19, 2025
CEP1048Aug 19, 2025
CEP1203Aug 19, 2025
CEP1282Aug 19, 2025
CEP1354Aug 19, 2025
CEP15211Aug 19, 2025
CEP1644Aug 19, 2025
CEP2504Aug 19, 2025
CEP250-AS11Aug 19, 2025
CEP29050Aug 19, 2025
CEP411Aug 19, 2025
CEP554Aug 19, 2025
CEP571Aug 19, 2025
CEP6312Aug 19, 2025
CEP781Aug 19, 2025
CEP85L9Aug 19, 2025
CEP891Aug 19, 2025
CERKL7Aug 19, 2025
CERS115Aug 19, 2025
CERT18Aug 19, 2025
CETP8Aug 19, 2025
CFAP2982Aug 19, 2025
CFAP298-TCP10L2Aug 19, 2025
CFAP432Aug 19, 2025
CFAP441Aug 19, 2025
CFAP451Aug 19, 2025
CFAP471Aug 19, 2025
CFAP531Aug 19, 2025
CFAP582Aug 19, 2025
CFAP924Aug 19, 2025
CFAP961Aug 19, 2025
CFB1Aug 19, 2025
CFD1Aug 19, 2025
CFH13Aug 19, 2025
CFHR21Aug 19, 2025
CFHR55Aug 19, 2025
CFI4Aug 19, 2025
CFL26Aug 19, 2025
CFTR109Aug 19, 2025
CFTR-AS110Aug 19, 2025
CFTR-AS233Aug 19, 2025
CHAMP113Aug 19, 2025
CHAT68Aug 19, 2025
CHCHD104Aug 19, 2025
CHCHD21Aug 19, 2025
CHD117Aug 19, 2025
CHD1L4Aug 19, 2025
CHD230Aug 19, 2025
CHD318Aug 19, 2025
CHD49Aug 19, 2025
CHD4-AS14Aug 19, 2025
CHD54Aug 19, 2025
CHD759Aug 19, 2025
CHD832Aug 19, 2025
CHEK235Aug 19, 2025
CHIT11Aug 19, 2025
CHKB15Aug 19, 2025
CHKB-CPT1B16Aug 19, 2025
CHM1Aug 19, 2025
CHMP1A1Aug 19, 2025
CHMP2B3Aug 19, 2025
CHN11Aug 19, 2025
CHPT11Aug 19, 2025
CHRNA145Aug 19, 2025
CHRNA28Aug 19, 2025
CHRNA418Aug 19, 2025
CHRNA71Aug 19, 2025
CHRNB151Aug 19, 2025
CHRNB24Aug 19, 2025
CHRND60Aug 19, 2025
CHRNE106Aug 19, 2025
CHRNG12Aug 19, 2025
CHROMR1Aug 19, 2025
CHST143Aug 19, 2025
CHST61Aug 19, 2025
CHSY12Aug 19, 2025
CIB22Aug 19, 2025
CIC17Aug 19, 2025
CIITA3Aug 19, 2025
CILK11Aug 19, 2025
CIT8Aug 19, 2025
CITED22Aug 19, 2025
CIZ14Aug 19, 2025
CKAP2L5Aug 19, 2025
CKM1Aug 19, 2025
CLASP11Aug 19, 2025
CLASP1-AS11Aug 19, 2025
CLCC11Aug 19, 2025
CLCN1179Aug 19, 2025
CLCN212Aug 19, 2025
CLCN310Aug 19, 2025
CLCN46Aug 19, 2025
CLCN56Aug 19, 2025
CLCN65Aug 19, 2025
CLCN711Aug 19, 2025
CLCNKA2Aug 19, 2025
CLCNKB6Aug 19, 2025
CLDN11Aug 19, 2025
CLDN165Aug 19, 2025
CLHC11Aug 19, 2025
CLIP11Aug 19, 2025
CLN35Aug 19, 2025
CLN514Aug 19, 2025
CLN612Aug 19, 2025
CLN86Aug 19, 2025
CLP11Aug 19, 2025
CLPB15Aug 19, 2025
CLRN15Aug 19, 2025
CLRN1-AS12Aug 19, 2025
CLTC6Aug 19, 2025
CLTCL11Aug 19, 2025
CNBP1Aug 19, 2025
CNGA13Aug 19, 2025
CNGA39Aug 19, 2025
CNGB16Aug 19, 2025
CNGB37Aug 19, 2025
CNKSR11Aug 19, 2025
CNKSR26Aug 19, 2025
CNNM22517Jun 30, 2026
CNOT17Aug 19, 2025
CNOT21Aug 19, 2025
CNOT36Aug 19, 2025
CNPY31Aug 19, 2025
CNPY3-GNMT1Aug 19, 2025
CNTN12Aug 19, 2025
CNTN22Aug 19, 2025
CNTN41Aug 19, 2025
CNTN4-AS11Aug 19, 2025
CNTNAP18Aug 19, 2025
CNTNAP228Aug 19, 2025
CNTNAP55Aug 19, 2025
COA82Aug 19, 2025
COASY3Aug 19, 2025
COCH1Aug 19, 2025
COCH-AS11Aug 19, 2025
COG13Aug 19, 2025
COG21Aug 19, 2025
COG411Aug 19, 2025
COG52Aug 19, 2025
COG65Aug 19, 2025
COG74Aug 19, 2025
COG83Aug 19, 2025
COL10A15Aug 19, 2025
COL11A133Aug 19, 2025
COL11A230Aug 19, 2025
COL12A1317Aug 19, 2025
COL13A128Aug 19, 2025
COL17A17Aug 19, 2025
COL18A112Aug 19, 2025
COL1A192Aug 19, 2025
COL1A263Aug 19, 2025
COL25A11Aug 19, 2025
COL27A17Aug 19, 2025
COL2A133Aug 19, 2025
COL3A115Aug 19, 2025
COL4A1125Aug 19, 2025
COL4A212Aug 19, 2025
COL4A2-AS13Aug 19, 2025
COL4A2-AS22Aug 19, 2025
COL4A332Aug 19, 2025
COL4A427Aug 19, 2025
COL4A520Aug 19, 2025
COL4A63Aug 19, 2025
COL5A124Aug 19, 2025
COL5A1-AS11Aug 19, 2025
COL5A214Aug 19, 2025
COL6A1231Aug 19, 2025
COL6A2300Aug 19, 2025
COL6A3483Aug 19, 2025
COL6A62Aug 19, 2025
COL7A140Aug 19, 2025
COL8A21Aug 19, 2025
COL9A18Aug 19, 2025
COL9A24Aug 19, 2025
COL9A39Aug 19, 2025
COLEC101Aug 19, 2025
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GRIN2D19Aug 19, 2025
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GRIN3B1Aug 19, 2025
GRIP13Aug 19, 2025
GRM15Aug 19, 2025
GRM64Aug 19, 2025
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RMND16Aug 19, 2025
RMRP1Jan 26, 2024
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ROM13Aug 19, 2025
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RPL525Aug 19, 2025
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RPS2610Aug 19, 2025
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RPS710Aug 19, 2025
RRAS1Aug 19, 2025
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RSPH92Aug 19, 2025
RSPO21Aug 19, 2025
RSPO42Aug 19, 2025
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RTEL121Aug 19, 2025
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RTN26Aug 19, 2025
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RUNX26Aug 19, 2025
RUSC25Aug 19, 2025
RXYLT112Aug 19, 2025
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RYR236Aug 19, 2025
RYR36Aug 19, 2025
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SACS-AS11Aug 19, 2025
SAG2Aug 19, 2025
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SAMD98Aug 19, 2025
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SAMHD110Aug 19, 2025
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SASH12Aug 19, 2025
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SBDS4Aug 19, 2025
SBF14Aug 19, 2025
SBF24Aug 19, 2025
SBF2-AS11Aug 19, 2025
SCAMP44Aug 19, 2025
SCAP1Aug 19, 2025
SCAPER5Aug 19, 2025
SCARB11Aug 19, 2025
SCARB210Aug 19, 2025
SCARF22Aug 19, 2025
SCLT11Aug 19, 2025
SCN10A9Aug 19, 2025
SCN11A12Aug 19, 2025
SCN1A85Aug 19, 2025
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SCN1B7Aug 19, 2025
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SCN5A39Aug 19, 2025
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SCN9A33Aug 19, 2025
SCNN1A3Aug 19, 2025
SCNN1B6Aug 19, 2025
SCNN1G5Aug 19, 2025
SCO13Aug 19, 2025
SCO28Aug 19, 2025
SCRIB2Aug 19, 2025
SCYL12Aug 19, 2025
SCYL21Aug 19, 2025
SDCCAG87Aug 19, 2025
SDHA22Aug 19, 2025
SDHAF22Aug 19, 2025
SDHB6Aug 19, 2025
SDHC3Aug 19, 2025
SDHD6Aug 19, 2025
SEC23A1Aug 19, 2025
SEC23B70Aug 19, 2025
SEC24D5Aug 19, 2025
SEC61A11Aug 19, 2025
SEC632Aug 19, 2025
SECISBP22Aug 19, 2025
SELENON79Aug 19, 2025
SEMA3A1Aug 19, 2025
SEMA3C2Aug 19, 2025
SEMA3E2Aug 19, 2025
SEMA4A3Aug 19, 2025
SEMA6B5Aug 19, 2025
SEPSECS8Aug 19, 2025
SEPT5-GP1BB3Aug 19, 2025
SEPTIN93Aug 19, 2025
SERAC17Aug 19, 2025
SERPINA15Aug 19, 2025
SERPINA31Aug 19, 2025
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SERPINF13Aug 19, 2025
SERPING13Aug 19, 2025
SERPINH12Aug 19, 2025
SERPINI13Aug 19, 2025
SET3Aug 19, 2025
SETBP139Aug 19, 2025
SETD1A24Aug 19, 2025
SETD1B27Aug 19, 2025
SETD233Aug 19, 2025
SETD524Aug 19, 2025
SETX44Aug 19, 2025
SF3B42Aug 19, 2025
SFRP41Aug 19, 2025
SFTA32Aug 19, 2025
SFTPB3Aug 19, 2025
SFTPC4Aug 19, 2025
SFXN42Aug 19, 2025
SGCA109Aug 19, 2025
SGCB78Aug 19, 2025
SGCD35Aug 19, 2025
SGCE45Aug 19, 2025
SGCG76Aug 19, 2025
SGMS21Aug 19, 2025
SGO11Aug 19, 2025
SGO1-AS11Aug 19, 2025
SGPL14Aug 19, 2025
SGSH14Aug 19, 2025
SH2B11Aug 19, 2025
SH2B33Aug 19, 2025
SH3PXD2B4Aug 19, 2025
SH3TC223Aug 19, 2025
SHANK15Aug 19, 2025
SHANK24Aug 19, 2025
SHANK312Aug 19, 2025
SHFL1Aug 19, 2025
SHH4Aug 19, 2025
SHLD21Aug 19, 2025
SHMT11Aug 19, 2025
SHOC23Aug 19, 2025
SHROOM21Aug 19, 2025
SHROOM49Aug 19, 2025
SI10Aug 19, 2025
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WDR8121Aug 19, 2025
WFS124Aug 19, 2025
WHRN4Aug 19, 2025
WIPF11Aug 19, 2025
WNK17Aug 19, 2025
WNK43Aug 19, 2025
WNT13Aug 19, 2025
WNT10A10Aug 19, 2025
WNT10B1Aug 19, 2025
WNT2B1Aug 19, 2025
WNT41Aug 19, 2025
WNT5A2Aug 19, 2025
WNT7A1Aug 19, 2025
WRN25Aug 19, 2025
WT17Aug 19, 2025
WWOX18Aug 19, 2025
XDH6Aug 19, 2025
XIAP1Aug 19, 2025
XK11Aug 19, 2025
XPA7Aug 19, 2025
XPC11Aug 19, 2025
XPR11Aug 19, 2025
XRCC12Aug 19, 2025
XRCC23Aug 19, 2025
XRCC41Aug 19, 2025
XYLT12Aug 19, 2025
YARS15Aug 19, 2025
YARS26Aug 19, 2025
YIPF51Aug 19, 2025
YWHAG1Aug 19, 2025
YY15Aug 19, 2025
ZAP704Aug 19, 2025
ZBTB113Aug 19, 2025
ZBTB182Aug 19, 2025
ZBTB202Aug 19, 2025
ZBTB242Aug 19, 2025
ZBTB251Aug 19, 2025
ZC4H26Aug 19, 2025
ZDHHC247Aug 19, 2025
ZDHHC93Aug 19, 2025
ZEB11Aug 19, 2025
ZEB214Aug 19, 2025
ZFHX41Aug 19, 2025
ZFP36L21Aug 19, 2025
ZFP572Aug 19, 2025
ZFPM27Aug 19, 2025
ZFPM2-AS14Aug 19, 2025
ZFYVE2628Aug 19, 2025
ZFYVE273Aug 19, 2025
ZIC25Aug 19, 2025
ZIC33Aug 19, 2025
ZIC41Aug 19, 2025
ZMIZ18Aug 19, 2025
ZMPSTE246Aug 19, 2025
ZMYM22Aug 19, 2025
ZMYND103Aug 19, 2025
ZMYND119Aug 19, 2025
ZMYND151Aug 19, 2025
ZNF1425Aug 19, 2025
ZNF1485Aug 19, 2025
ZNF27612Aug 19, 2025
ZNF29221Aug 19, 2025
ZNF3355Aug 19, 2025
ZNF4072Aug 19, 2025
ZNF4081Aug 19, 2025
ZNF413Aug 19, 2025
ZNF4239Aug 19, 2025
ZNF441Aug 19, 2025
ZNF4542Aug 19, 2025
ZNF4624Aug 19, 2025
ZNF46917Aug 19, 2025
ZNF518A1Aug 19, 2025
ZNF6272Aug 19, 2025
ZNF6442Aug 19, 2025
ZNF6742Aug 19, 2025
ZNF6871Aug 19, 2025
ZNF6991Aug 19, 2025
ZNF7115Aug 19, 2025
ZNF7501Aug 19, 2025
ZNF75D1Aug 19, 2025
ZNF804A1Aug 19, 2025
ZNF811Aug 19, 2025
ZNFX12Aug 19, 2025
ZP11Aug 19, 2025
ZP31Aug 19, 2025
ZRANB31Aug 19, 2025
ZSWIM619Aug 19, 2025

Condition

NameSubmissionsLast Updated
3 beta-Hydroxysteroid dehydrogenase deficiency3Aug 19, 2025
3-Methylglutaconic aciduria type 26Aug 19, 2025
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Aug 19, 2025
3-hydroxy-3-methylglutaryl-CoA synthase deficiency3Aug 19, 2025
3-hydroxyisobutyryl-CoA hydrolase deficiency6Aug 19, 2025
3-methylcrotonyl-CoA carboxylase 1 deficiency38Aug 19, 2025
3-methylcrotonyl-CoA carboxylase 2 deficiency21Aug 19, 2025
3-methylglutaconic aciduria type 14Aug 19, 2025
3-methylglutaconic aciduria type 53Aug 19, 2025
3-methylglutaconic aciduria type 82Aug 19, 2025
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome7Aug 19, 2025
3M syndrome 15Aug 19, 2025
3M syndrome 25Aug 19, 2025
3M syndrome 31Aug 19, 2025
3MC syndrome 11Aug 19, 2025
3MC syndrome 21Aug 19, 2025
3MC syndrome 31Aug 19, 2025
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1Aug 19, 2025
5-Oxoprolinase deficiency6Aug 19, 2025
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency9Aug 19, 2025
8q24.3 microdeletion syndrome11Aug 19, 2025
ACCES syndrome2Aug 19, 2025
ACTH-independent macronodular adrenal hyperplasia 22Aug 19, 2025
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder20Aug 19, 2025
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome21Aug 19, 2025
AICA-ribosiduria1Aug 19, 2025
ALG1-congenital disorder of glycosylation7Aug 19, 2025
ALG11-congenital disorder of glycosylation2Aug 19, 2025
ALG12-congenital disorder of glycosylation5Aug 19, 2025
ALG3-congenital disorder of glycosylation1Aug 19, 2025
ALG6-congenital disorder of glycosylation 1C9Aug 19, 2025
ANE syndrome1Aug 19, 2025
Aarskog syndrome9Aug 19, 2025
Abdominal obesity-metabolic syndrome 33Aug 19, 2025
Abetalipoproteinaemia3Aug 19, 2025
Acatalasia1Aug 19, 2025
Achromatopsia 29Aug 19, 2025
Achromatopsia 37Aug 19, 2025
Achromatopsia 41Aug 19, 2025
Achromatopsia 71Aug 19, 2025
Acral peeling skin syndrome7Aug 19, 2025
Acrodermatitis continua suppurativa of Hallopeau2Aug 19, 2025
Acrodysostosis 2 with or without hormone resistance5Aug 19, 2025
Acrofacial dysostosis Cincinnati type6Aug 19, 2025
Action myoclonus-renal failure syndrome10Aug 19, 2025
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins5Aug 19, 2025
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome2Aug 19, 2025
Acute intermittent porphyria5Aug 19, 2025
Acute myeloid leukemia5Aug 19, 2025
Acyl-CoA dehydrogenase 9 deficiency19Aug 19, 2025
Adams-Oliver syndrome 113Aug 19, 2025
Adams-Oliver syndrome 217Aug 19, 2025
Adams-Oliver syndrome 31Aug 19, 2025
Adams-Oliver syndrome 41Aug 19, 2025
Adams-Oliver syndrome 61Aug 19, 2025
Adenine phosphoribosyltransferase deficiency4Aug 19, 2025
Adenylosuccinate lyase deficiency11Aug 19, 2025
Advanced sleep phase syndrome 15Aug 19, 2025
Advanced sleep phase syndrome 31Aug 19, 2025
Agammaglobulinemia 2, autosomal recessive2Aug 19, 2025
Agammaglobulinemia 4, autosomal recessive1Aug 19, 2025
Agammaglobulinemia 9, autosomal recessive1Aug 19, 2025
Agnathia-otocephaly complex1Aug 19, 2025
Aicardi-Goutieres syndrome 22Aug 19, 2025
Aicardi-Goutieres syndrome 34Aug 19, 2025
Aicardi-Goutieres syndrome 41Aug 19, 2025
Al Kaissi syndrome3Aug 19, 2025
Alacrima, achalasia, and intellectual disability syndrome4Aug 19, 2025
Alazami-Yuan syndrome2Aug 19, 2025
Alexander disease8Aug 19, 2025
Alkaptonuria5Aug 19, 2025
Alkuraya-Kucinskas syndrome26Aug 19, 2025
Allan-Herndon-Dudley syndrome2Aug 19, 2025
Alpha-1-antitrypsin deficiency5Aug 19, 2025
Alstrom syndrome20Aug 19, 2025
Alveolar capillary dysplasia with pulmonary venous misalignment5Aug 19, 2025
Amelocerebrohypohidrotic syndrome4Aug 19, 2025
Amelogenesis imperfecta type 1E1Aug 19, 2025
Amelogenesis imperfecta type 1G4Aug 19, 2025
Amyloidosis, primary localized cutaneous, 11Aug 19, 2025
Amyloidosis, primary localized cutaneous, 32Aug 19, 2025
Amyotrophic lateral sclerosis type 102Aug 19, 2025
Amyotrophic lateral sclerosis type 151Aug 19, 2025
Amyotrophic lateral sclerosis type 196Aug 19, 2025
Amyotrophic lateral sclerosis type 2115Aug 19, 2025
Amyotrophic lateral sclerosis type 222Aug 19, 2025
Amyotrophic lateral sclerosis type 91Aug 19, 2025
Amyotrophic neuralgia3Aug 19, 2025
Anauxetic dysplasia 22Aug 19, 2025
Anemia, congenital dyserythropoietic, type 1a135Aug 19, 2025
Anemia, nonspherocytic hemolytic, due to G6PD deficiency63Aug 19, 2025
Aneurysm-osteoarthritis syndrome2Aug 19, 2025
Angelman syndrome10Aug 19, 2025
Anophthalmia/microphthalmia-esophageal atresia syndrome3Aug 19, 2025
Anterior segment dysgenesis 72Aug 19, 2025
Anterior segment dysgenesis 82Aug 19, 2025
Aortic aneurysm, familial thoracic 104Aug 19, 2025
Aortic aneurysm, familial thoracic 123Aug 19, 2025
Aortic aneurysm, familial thoracic 82Aug 19, 2025
Aortic valve disease 28Aug 19, 2025
Aortic valve disease 33Aug 19, 2025
Apparent mineralocorticoid excess3Aug 19, 2025
Arginase deficiency7Aug 19, 2025
Argininosuccinate lyase deficiency18Aug 19, 2025
Ariboflavinosis1Aug 19, 2025
Armfield syndrome1Aug 19, 2025
Arrhythmogenic right ventricular dysplasia 1111Aug 19, 2025
Arrhythmogenic right ventricular dysplasia 1310Aug 19, 2025
Arrhythmogenic right ventricular dysplasia 912Aug 19, 2025
Arterial tortuosity syndrome8Aug 19, 2025
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect5Aug 19, 2025
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1Aug 19, 2025
Arthrogryposis, distal, type 1C1Aug 19, 2025
Arthrogryposis, renal dysfunction, and cholestasis 21Aug 19, 2025
Aspartylglucosaminuria4Aug 19, 2025
Asphyxiating thoracic dystrophy 24Aug 19, 2025
Asphyxiating thoracic dystrophy 332Aug 19, 2025
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome25Aug 19, 2025
Ataxia with oculomotor apraxia type 33Aug 19, 2025
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4Aug 19, 2025
Ataxia-telangiectasia syndrome111Aug 19, 2025
Ataxia-telangiectasia-like disorder 134Aug 19, 2025
Ataxia-telangiectasia-like disorder 21Aug 19, 2025
Atrial fibrillation, familial, 143Aug 19, 2025
Atrial fibrillation, familial, 73Aug 19, 2025
Atrial septal defect 41Aug 19, 2025
Atrial septal defect 65Aug 19, 2025
Atrioventricular septal defect, susceptibility to, 25Aug 19, 2025
Atypical glycine encephalopathy1Aug 19, 2025
Au-Kline syndrome1Aug 19, 2025
Auditory neuropathy-optic atrophy syndrome1Aug 19, 2025
Auriculocondylar syndrome 11Aug 19, 2025
Autism spectrum disorder - epilepsy - arthrogryposis syndrome4Aug 19, 2025
Autism spectrum disorder due to AUTS2 deficiency30Aug 19, 2025
Autism, susceptibility to, X-linked 23Aug 19, 2025
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1Aug 19, 2025
Autoimmune lymphoproliferative syndrome type 17Aug 19, 2025
Autoimmune lymphoproliferative syndrome type 2A7Aug 19, 2025
Autoimmune lymphoproliferative syndrome type 2B3Aug 19, 2025
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2Aug 19, 2025
Autoinflammation, immune dysregulation, and eosinophilia3Aug 19, 2025
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive1Aug 19, 2025
Autoinflammatory syndrome, familial, Behcet-like 14Aug 19, 2025
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency1Aug 19, 2025
Autosomal dominant Robinow syndrome 12Aug 19, 2025
Autosomal dominant Robinow syndrome 28Aug 19, 2025
Autosomal dominant Robinow syndrome 33Aug 19, 2025
Autosomal dominant auditory neuropathy 15Aug 19, 2025
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome27Aug 19, 2025
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)51Aug 19, 2025
Autosomal dominant limb-girdle muscular dystrophy type 1F54Aug 19, 2025
Autosomal dominant limb-girdle muscular dystrophy type 1G33Aug 19, 2025
Autosomal dominant nocturnal frontal lobe epilepsy 118Aug 19, 2025
Autosomal dominant nocturnal frontal lobe epilepsy 34Aug 19, 2025
Autosomal dominant nocturnal frontal lobe epilepsy 48Aug 19, 2025
Autosomal dominant nonsyndromic hearing loss 252Aug 19, 2025
Autosomal dominant nonsyndromic hearing loss 2A5Aug 19, 2025
Autosomal dominant nonsyndromic hearing loss 401Aug 19, 2025
Autosomal dominant nonsyndromic hearing loss 54Aug 19, 2025
Autosomal dominant nonsyndromic hearing loss 565Aug 19, 2025
Autosomal dominant nonsyndromic hearing loss 642Aug 19, 2025
Autosomal dominant nonsyndromic hearing loss 71Aug 19, 2025
Autosomal dominant omodysplasia1Aug 19, 2025
Autosomal dominant slowed nerve conduction velocity4Aug 19, 2025
Autosomal recessive DOPA responsive dystonia20Aug 19, 2025
Autosomal recessive ataxia due to ubiquinone deficiency12Aug 19, 2025
Autosomal recessive axonal neuropathy with neuromyotonia1Aug 19, 2025
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome5Aug 19, 2025
Autosomal recessive congenital ichthyosis 116Aug 19, 2025
Autosomal recessive congenital ichthyosis 102Aug 19, 2025
Autosomal recessive congenital ichthyosis 113Aug 19, 2025
Autosomal recessive congenital ichthyosis 22Aug 19, 2025
Autosomal recessive congenital ichthyosis 34Aug 19, 2025
Autosomal recessive congenital ichthyosis 51Aug 19, 2025
Autosomal recessive congenital ichthyosis 62Aug 19, 2025
Autosomal recessive congenital ichthyosis 81Aug 19, 2025
Autosomal recessive early-onset Parkinson disease 2311Aug 19, 2025
Autosomal recessive early-onset Parkinson disease 65Aug 19, 2025
Autosomal recessive hypophosphatemic bone disease12Aug 19, 2025
Autosomal recessive juvenile Parkinson disease 28Aug 19, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2C76Aug 19, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2D109Aug 19, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2E77Aug 19, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2W61Aug 19, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2X33Aug 19, 2025
Autosomal recessive limb-girdle muscular dystrophy type R18107Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 1022Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 151Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 165Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 18B20Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 221Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 241Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 251Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 2811Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 321Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 307Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 391Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 43Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 426Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 494Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 61Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 611Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 633Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 671Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 742Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 761Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 7720Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 791Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 84Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 84B15Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 914Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 911Aug 19, 2025
Autosomal recessive nonsyndromic hearing loss 932Aug 19, 2025
Autosomal recessive optic atrophy, OPA7 type1Aug 19, 2025
Autosomal recessive osteopetrosis 114Aug 19, 2025
Autosomal recessive osteopetrosis 21Aug 19, 2025
Autosomal recessive osteopetrosis 53Aug 19, 2025
Autosomal recessive osteopetrosis 81Aug 19, 2025
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2Aug 19, 2025
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1Aug 19, 2025
Autosomal recessive spastic paraplegia type 766Aug 19, 2025
Autosomal recessive spinocerebellar ataxia 106Aug 19, 2025
Autosomal recessive spinocerebellar ataxia 152Aug 19, 2025
Autosomal recessive spinocerebellar ataxia 171Aug 19, 2025
Autosomal recessive spinocerebellar ataxia 22Aug 19, 2025
Autosomal recessive spinocerebellar ataxia 202Aug 19, 2025
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1Aug 19, 2025
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2011Aug 19, 2025
Bailey-Bloch congenital myopathy10Aug 19, 2025
Bamforth-Lazarus syndrome2Aug 19, 2025
Bardet-Biedl syndrome 113Aug 19, 2025
Bardet-Biedl syndrome 1015Aug 19, 2025
Bardet-Biedl syndrome 129Aug 19, 2025
Bardet-Biedl syndrome 181Aug 19, 2025
Bardet-Biedl syndrome 413Aug 19, 2025
Bardet-Biedl syndrome 52Aug 19, 2025
Bardet-Biedl syndrome 73Aug 19, 2025
Bardet-Biedl syndrome 92Aug 19, 2025
Barrett esophagus2Aug 19, 2025
Bartter disease type 17Aug 19, 2025
Bartter disease type 26Aug 19, 2025
Bartter disease type 4A3Aug 19, 2025
Bartter disease type 4B2Aug 19, 2025
Bartter disease type 51Aug 19, 2025
Basal ganglia calcification, idiopathic, 61Aug 19, 2025
Basal ganglia calcification, idiopathic, 7, autosomal recessive3Aug 19, 2025
Basilicata-Akhtar syndrome3Aug 19, 2025
Beck-Fahrner syndrome7Aug 19, 2025
Bernard Soulier syndrome6Aug 19, 2025
Beta-D-mannosidosis6Aug 19, 2025
Bietti crystalline corneoretinal dystrophy4Aug 19, 2025
Bile acid malabsorption, primary, 11Aug 19, 2025
Biotin-responsive basal ganglia disease6Aug 19, 2025
Biotinidase deficiency38Aug 19, 2025
Blau syndrome6Aug 19, 2025
Blepharocheilodontic syndrome 23Aug 19, 2025
Bloom syndrome37Aug 19, 2025
Bohring-Opitz syndrome15Aug 19, 2025
Bone fragility with contractures, arterial rupture, and deafness3Aug 19, 2025
Bone marrow failure and diabetes mellitus syndrome1Aug 19, 2025
Bone marrow failure syndrome 31Aug 19, 2025
Borjeson-Forssman-Lehmann syndrome3Aug 19, 2025
Bosch-Boonstra-Schaaf optic atrophy syndrome6Aug 19, 2025
Brachydactyly-arterial hypertension syndrome3Aug 19, 2025
Brain dopamine-serotonin vesicular transport disease3Aug 19, 2025
Brain malformations with or without urinary tract defects1Aug 19, 2025
Brain small vessel disease 2A, autosomal dominant12Aug 19, 2025
Brain small vessel disease 33Aug 19, 2025
Branched-chain keto acid dehydrogenase kinase deficiency1Aug 19, 2025
Branchiooculofacial syndrome6Aug 19, 2025
Branchiootorenal syndrome 25Aug 19, 2025
Brittle cornea syndrome 117Aug 19, 2025
Brittle cornea syndrome 26Aug 19, 2025
Brody myopathy137Aug 19, 2025
Brown-Vialetto-van Laere syndrome 24Aug 19, 2025
Bruck syndrome 24Aug 19, 2025
Brugada syndrome 21Aug 19, 2025
Brugada syndrome 46Aug 19, 2025
Brugada syndrome 61Aug 19, 2025
Brunner syndrome1Aug 19, 2025
Buratti-Harel syndrome1Aug 19, 2025
C syndrome3Aug 19, 2025
C3 glomerulonephritis5Aug 19, 2025
CCDC115-CDG1Aug 19, 2025
CEDNIK syndrome1Aug 19, 2025
CHIME syndrome2Aug 19, 2025
CODAS syndrome6Aug 19, 2025
COG1 congenital disorder of glycosylation3Aug 19, 2025
COG5-congenital disorder of glycosylation2Aug 19, 2025
COG7 congenital disorder of glycosylation4Aug 19, 2025
COG8-congenital disorder of glycosylation3Aug 19, 2025
Calvarial doughnut lesions-bone fragility syndrome1Aug 19, 2025
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome4Aug 19, 2025
Camptomelic dysplasia8Aug 19, 2025
Candidiasis, familial, 61Aug 19, 2025
Capillary malformation-arteriovenous malformation 112Aug 19, 2025
Cardiac anomalies - developmental delay - facial dysmorphism syndrome29Aug 19, 2025
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2Aug 19, 2025
Cardiac valvular defect, developmental7Aug 19, 2025
Cardiac, facial, and digital anomalies with developmental delay4Aug 19, 2025
Cardioacrofacial dysplasia 11Aug 19, 2025
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21Aug 19, 2025
Cardiofaciocutaneous syndrome 33Aug 19, 2025
Cardiofaciocutaneous syndrome 45Aug 19, 2025
Cardiomyopathy, dilated, 2G2Aug 19, 2025
Cardiomyopathy, dilated, 2I1Aug 19, 2025
Cardiomyopathy, familial hypertrophic 2714Aug 19, 2025
Cardiomyopathy, familial hypertrophic, 282Aug 19, 2025
Cardiomyopathy-hypotonia-lactic acidosis syndrome1Aug 19, 2025
Carey-Fineman-Ziter syndrome 12Aug 19, 2025
Carnitine acylcarnitine translocase deficiency2Aug 19, 2025
Carnitine palmitoyl transferase 1A deficiency9Aug 19, 2025
Cataract 1 multiple types4Aug 19, 2025
Cataract 10 multiple types3Aug 19, 2025
Cataract 12 multiple types3Aug 19, 2025
Cataract 17 multiple types1Aug 19, 2025
Cataract 181Aug 19, 2025
Cataract 19 multiple types1Aug 19, 2025
Cataract 2, multiple types2Aug 19, 2025
Cataract 20 multiple types1Aug 19, 2025
Cataract 3 multiple types3Aug 19, 2025
Cataract 451Aug 19, 2025
Cataract 6 multiple types3Aug 19, 2025
Cataract 9 multiple types2Aug 19, 2025
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome2Aug 19, 2025
Catecholaminergic polymorphic ventricular tachycardia 29Aug 19, 2025
Catecholaminergic polymorphic ventricular tachycardia 513Aug 19, 2025
Catel-Manzke syndrome3Aug 19, 2025
Catifa syndrome1Aug 19, 2025
Cayman type cerebellar ataxia2Aug 19, 2025
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction1Aug 19, 2025
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 18Aug 19, 2025
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 48Aug 19, 2025
Cerebellar ataxia-hypogonadism syndrome4Aug 19, 2025
Cerebellar atrophy with seizures and variable developmental delay8Aug 19, 2025
Cerebellar atrophy, visual impairment, and psychomotor retardation;6Aug 19, 2025
Cerebellar dysfunction with variable cognitive and behavioral abnormalities22Aug 19, 2025
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1Aug 19, 2025
Cerebellar-facial-dental syndrome2Aug 19, 2025
Cerebral cavernous malformation5Aug 19, 2025
Cerebral cavernous malformation 21Aug 19, 2025
Cerebral cavernous malformation 31Aug 19, 2025
Cerebral folate transport deficiency1Aug 19, 2025
Cerebral palsy, spastic quadriplegic, 25Aug 19, 2025
Cerebral palsy, spastic quadriplegic, 32Aug 19, 2025
Cerebro-costo-mandibular syndrome1Aug 19, 2025
Cerebrooculofacioskeletal syndrome 42Aug 19, 2025
Cerebroretinal microangiopathy with calcifications and cysts 113Aug 19, 2025
Cerebroretinal microangiopathy with calcifications and cysts 21Aug 19, 2025
Cernunnos-XLF deficiency1Aug 19, 2025
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)3Aug 19, 2025
Charcot-Marie-Tooth Disease, axonal, type 2GG2Aug 19, 2025
Charcot-Marie-Tooth disease X-linked dominant 18Aug 19, 2025
Charcot-Marie-Tooth disease X-linked dominant 61Aug 19, 2025
Charcot-Marie-Tooth disease axonal type 2CC11Aug 19, 2025
Charcot-Marie-Tooth disease axonal type 2P7Aug 19, 2025
Charcot-Marie-Tooth disease dominant intermediate F2Aug 19, 2025
Charcot-Marie-Tooth disease type 1C1Aug 19, 2025
Charcot-Marie-Tooth disease type 2A113Aug 19, 2025
Charcot-Marie-Tooth disease type 2R2Aug 19, 2025
Charcot-Marie-Tooth disease type 4B11Aug 19, 2025
Charcot-Marie-Tooth disease type 4B24Aug 19, 2025
Charcot-Marie-Tooth disease type 4B34Aug 19, 2025
Charcot-Marie-Tooth disease type 4D5Aug 19, 2025
Charcot-Marie-Tooth disease type 4H4Aug 19, 2025
Charcot-Marie-Tooth disease, axonal, type 2FF1Aug 19, 2025
Charcot-Marie-Tooth disease, demyelinating, type 1G1Aug 19, 2025
Charcot-Marie-Tooth disease, demyelinating, type 1J10Aug 19, 2025
Charlevoix-Saguenay spastic ataxia53Aug 19, 2025
Childhood apraxia of speech5Aug 19, 2025
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency4Aug 19, 2025
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder5Aug 19, 2025
Chilton-Okur-Chung neurodevelopmental syndrome5Aug 19, 2025
Chitotriosidase deficiency1Aug 19, 2025
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Aug 19, 2025
Cholestanol storage disease21Aug 19, 2025
Cholestasis, progressive familial intrahepatic, 52Aug 19, 2025
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss2Aug 19, 2025
Chopra-Amiel-Gordon syndrome8Aug 19, 2025
Choroideremia1Aug 19, 2025
Christianson syndrome6Aug 19, 2025
Chromosome 2q32-q33 deletion syndrome10Aug 19, 2025
Chronic atrial and intestinal dysrhythmia1Aug 19, 2025
Chudley-McCullough syndrome3Aug 19, 2025
Chylomicron retention disease3Aug 19, 2025
Chédiak-Higashi syndrome144Aug 19, 2025
Ciliary dyskinesia, primary, 36, X-linked1Aug 19, 2025
Ciliary dyskinesia, primary, 394Aug 19, 2025
Ciliary dyskinesia, primary, 4019Aug 19, 2025
Ciliary dyskinesia, primary, 411Aug 19, 2025
Ciliary dyskinesia, primary, 422Aug 19, 2025
Ciliary dyskinesia, primary, 431Aug 19, 2025
Ciliary dyskinesia, primary, 441Aug 19, 2025
Ciliary dyskinesia, primary, 461Aug 19, 2025
Ciliary dyskinesia, primary, 47, and lissencephaly2Aug 19, 2025
Ciliary dyskinesia, primary, 512Aug 19, 2025
Citrullinemia type I28Aug 19, 2025
Clark-Baraitser syndrome18Aug 19, 2025
Classic dopamine transporter deficiency syndrome6Aug 19, 2025
Classic homocystinuria26Aug 19, 2025
Clubfoot1Aug 19, 2025
Cobalamin C disease32Aug 19, 2025
Cobblestone lissencephaly without muscular or ocular involvement16Aug 19, 2025
Coenzyme Q10 deficiency, primary, 19Aug 19, 2025
Coenzyme Q10 deficiency, primary, 34Aug 19, 2025
Coffin-Siris syndrome 163Aug 19, 2025
Coffin-Siris syndrome 101Aug 19, 2025
Coffin-Siris syndrome 112Aug 19, 2025
Coffin-Siris syndrome 129Aug 19, 2025
Coffin-Siris syndrome 53Aug 19, 2025
Coffin-Siris syndrome 612Aug 19, 2025
Coffin-Siris syndrome 72Aug 19, 2025
Coffin-Siris syndrome 89Aug 19, 2025
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome4Aug 19, 2025
Cohen syndrome52Aug 19, 2025
Cold-induced sweating syndrome 11Aug 19, 2025
Cole-Carpenter syndrome 12Aug 19, 2025
Cole-Carpenter syndrome 25Aug 19, 2025
Coloboma, ocular, autosomal recessive1Aug 19, 2025
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1Aug 19, 2025
Combined deficiency of sialidase AND beta galactosidase1Aug 19, 2025
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia3Aug 19, 2025
Combined immunodeficiency due to DOCK8 deficiency18Aug 19, 2025
Combined immunodeficiency due to GINS1 deficiency1Aug 19, 2025
Combined immunodeficiency due to LRBA deficiency13Aug 19, 2025
Combined immunodeficiency due to moesin deficiency1Aug 19, 2025
Combined malonic and methylmalonic acidemia17Aug 19, 2025
Combined oxidative phosphorylation defect type 116Aug 19, 2025
Combined oxidative phosphorylation defect type 1711Aug 19, 2025
Combined oxidative phosphorylation defect type 204Aug 19, 2025
Combined oxidative phosphorylation defect type 234Aug 19, 2025
Combined oxidative phosphorylation defect type 275Aug 19, 2025
Combined oxidative phosphorylation deficiency 324Aug 19, 2025
Combined oxidative phosphorylation deficiency 332Aug 19, 2025
Combined oxidative phosphorylation deficiency 353Aug 19, 2025
Combined oxidative phosphorylation deficiency 362Aug 19, 2025
Combined oxidative phosphorylation deficiency 392Aug 19, 2025
Combined oxidative phosphorylation deficiency 421Aug 19, 2025
Combined oxidative phosphorylation deficiency 444Aug 19, 2025
Combined oxidative phosphorylation deficiency 461Aug 19, 2025
Combined oxidative phosphorylation deficiency 482Aug 19, 2025
Combined oxidative phosphorylation deficiency 522Aug 19, 2025
Combined oxidative phosphorylation deficiency 557Aug 19, 2025
Complement component 2 deficiency2Aug 19, 2025
Complement component 3 deficiency2Aug 19, 2025
Complement component 6 deficiency1Aug 19, 2025
Complement component 9 deficiency2Aug 19, 2025
Complement factor b deficiency1Aug 19, 2025
Complex cortical dysplasia with other brain malformations 25Aug 19, 2025
Complex cortical dysplasia with other brain malformations 34Aug 19, 2025
Complex cortical dysplasia with other brain malformations 44Aug 19, 2025
Complex cortical dysplasia with other brain malformations 51Aug 19, 2025
Complex cortical dysplasia with other brain malformations 72Aug 19, 2025
Complex lethal osteochondrodysplasia1Aug 19, 2025
Compton-North congenital myopathy2Aug 19, 2025
Cone dystrophy 31Aug 19, 2025
Cone dystrophy 41Aug 19, 2025
Cone dystrophy with supernormal rod response5Aug 19, 2025
Cone-rod dystrophy 155Aug 19, 2025
Cone-rod dystrophy 191Aug 19, 2025
Cone-rod dystrophy 201Aug 19, 2025
Cone-rod dystrophy 211Aug 19, 2025
Cone-rod dystrophy 51Aug 19, 2025
Cone-rod dystrophy and hearing loss 11Aug 19, 2025
Cone-rod dystrophy and hearing loss 24Aug 19, 2025
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2Aug 19, 2025
Congenital anomalies of kidney and urinary tract 22Aug 19, 2025
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3Aug 19, 2025
Congenital bile acid synthesis defect 13Aug 19, 2025
Congenital bile acid synthesis defect 24Aug 19, 2025
Congenital bile acid synthesis defect 62Aug 19, 2025
Congenital brain dysgenesis due to glutamine synthetase deficiency1Aug 19, 2025
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3Aug 19, 2025
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Aug 19, 2025
Congenital cataracts-facial dysmorphism-neuropathy syndrome3Aug 19, 2025
Congenital cerebellar hypoplasia1Aug 19, 2025
Congenital defect of folate absorption1Aug 19, 2025
Congenital diarrhea 7 with exudative enteropathy3Aug 19, 2025
Congenital disorder of deglycosylation 18Aug 19, 2025
Congenital disorder of deglycosylation 22Aug 19, 2025
Congenital disorder of glycosylation type 1E2Aug 19, 2025
Congenital disorder of glycosylation with defective fucosylation 11Aug 19, 2025
Congenital disorder of glycosylation with defective fucosylation 23Aug 19, 2025
Congenital disorder of glycosylation, type IIq1Aug 19, 2025
Congenital dyserythropoietic anemia type type 1B10Aug 19, 2025
Congenital factor VII deficiency5Aug 19, 2025
Congenital generalized lipodystrophy type 411Aug 19, 2025
Congenital glucose-galactose malabsorption2Aug 19, 2025
Congenital heart defects and ectodermal dysplasia5Aug 19, 2025
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder19Aug 19, 2025
Congenital heart defects, multiple types, 25Aug 19, 2025
Congenital heart defects, multiple types, 59Aug 19, 2025
Congenital heart defects, multiple types, 92Aug 19, 2025
Congenital hyperammonemia, type I21Aug 19, 2025
Congenital hypothalamic hamartoma syndrome1Aug 19, 2025
Congenital insensitivity to pain-hypohidrosis syndrome1Aug 19, 2025
Congenital lactase deficiency1Aug 19, 2025
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type21Aug 19, 2025
Congenital lipoid adrenal hyperplasia due to STAR deficency9Aug 19, 2025
Congenital malabsorptive diarrhea 41Aug 19, 2025
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome15Aug 19, 2025
Congenital muscular dystrophy due to integrin alpha-7 deficiency154Aug 19, 2025
Congenital muscular dystrophy with cataracts and intellectual disability9Aug 19, 2025
Congenital muscular dystrophy with intellectual disability and severe epilepsy1Aug 19, 2025
Congenital myasthenic syndrome 123Aug 19, 2025
Congenital myasthenic syndrome 1928Aug 19, 2025
Congenital myasthenic syndrome 2113Aug 19, 2025
Congenital myasthenic syndrome 549Aug 19, 2025
Congenital myasthenic syndrome 886Aug 19, 2025
Congenital myopathy 111Aug 19, 2025
Congenital myopathy 206Aug 19, 2025
Congenital myopathy with internal nuclei and atypical cores16Aug 19, 2025
Congenital neutropenia-myelofibrosis-nephromegaly syndrome2Aug 19, 2025
Congenital nongoitrous hypothyroidism 61Aug 19, 2025
Congenital secretory diarrhea, chloride type2Aug 19, 2025
Congenital secretory sodium diarrhea 32Aug 19, 2025
Congenital secretory sodium diarrhea 84Aug 19, 2025
Congenital sensory neuropathy with selective loss of small myelinated fibers1Aug 19, 2025
Congenital stationary night blindness 1B4Aug 19, 2025
Congenital stationary night blindness 1C7Aug 19, 2025
Congenital stationary night blindness 1D2Aug 19, 2025
Congenital stationary night blindness 1E4Aug 19, 2025
Congenital stationary night blindness 1F1Aug 19, 2025
Congenital vertical talus3Aug 19, 2025
Conotruncal heart malformations5Aug 19, 2025
Cornea plana 21Aug 19, 2025
Corneal dystrophy, Meesmann, 11Aug 19, 2025
Cornelia de Lange syndrome 126Aug 19, 2025
Cornelia de Lange syndrome 34Aug 19, 2025
Cornelia de Lange syndrome 53Aug 19, 2025
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2Aug 19, 2025
Cortical dysplasia-focal epilepsy syndrome28Aug 19, 2025
Corticosteroid-binding globulin deficiency2Aug 19, 2025
Cortisone reductase deficiency 12Aug 19, 2025
Costello syndrome8Aug 19, 2025
Cowden syndrome 41Aug 19, 2025
Cowden syndrome 52Aug 19, 2025
Cowden syndrome 61Aug 19, 2025
Cranioectodermal dysplasia 16Aug 19, 2025
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11Aug 19, 2025
Craniofrontonasal syndrome2Aug 19, 2025
Craniolenticulosutural dysplasia1Aug 19, 2025
Craniosynostosis and dental anomalies2Aug 19, 2025
Creatine transporter deficiency4Aug 19, 2025
Cryptosporidiosis-chronic cholangitis-liver disease syndrome2Aug 19, 2025
Currarino triad3Aug 19, 2025
Cutaneous porphyria3Aug 19, 2025
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies6Aug 19, 2025
Cutis laxa, autosomal recessive, type 1B5Aug 19, 2025
Cystathioninuria1Aug 19, 2025
Cystic leukoencephalopathy without megalencephaly5Aug 19, 2025
Cystinuria36Aug 19, 2025
D-Glyceric aciduria4Aug 19, 2025
DEGCAGS syndrome1Aug 19, 2025
DK1-congenital disorder of glycosylation5Aug 19, 2025
DNA ligase IV deficiency5Aug 19, 2025
DOCK2 deficiency5Aug 19, 2025
DYRK1A-related intellectual disability syndrome17Aug 19, 2025
Dalmatian hypouricemia4Aug 19, 2025
Danon disease9Aug 19, 2025
DeSanto-Shinawi syndrome due to WAC point mutation14Aug 19, 2025
Deafness with labyrinthine aplasia, microtia, and microdontia2Aug 19, 2025
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome4Aug 19, 2025
Deficiency of 2-methylbutyryl-CoA dehydrogenase10Aug 19, 2025
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase24Aug 19, 2025
Deficiency of acetyl-CoA acetyltransferase12Aug 19, 2025
Deficiency of alpha-mannosidase17Aug 19, 2025
Deficiency of aromatic-L-amino-acid decarboxylase6Aug 19, 2025
Deficiency of beta-ureidopropionase3Aug 19, 2025
Deficiency of bisphosphoglycerate mutase1Aug 19, 2025
Deficiency of butyryl-CoA dehydrogenase17Aug 19, 2025
Deficiency of butyrylcholinesterase14Aug 19, 2025
Deficiency of cytochrome-b5 reductase43Aug 19, 2025
Deficiency of ferroxidase7Aug 19, 2025
Deficiency of galactokinase10Aug 19, 2025
Deficiency of guanidinoacetate methyltransferase17Aug 19, 2025
Deficiency of hydroxymethylglutaryl-CoA lyase6Aug 19, 2025
Deficiency of isobutyryl-CoA dehydrogenase9Aug 19, 2025
Deficiency of malonyl-CoA decarboxylase9Aug 19, 2025
Deficiency of steroid 17-alpha-monooxygenase5Aug 19, 2025
Deficiency of transaldolase3Aug 19, 2025
Dehydrated hereditary stomatocytosis 244Aug 19, 2025
Dermatofibrosis lenticularis disseminata2Aug 19, 2025
Desbuquois dysplasia 22Aug 19, 2025
Desmosterolosis2Aug 19, 2025
Developmental and epileptic encephalopathy 1081Aug 19, 2025
Developmental and epileptic encephalopathy 1122Aug 19, 2025
Developmental and epileptic encephalopathy 927Aug 19, 2025
Developmental and epileptic encephalopathy 9430Aug 19, 2025
Developmental and epileptic encephalopathy 961Aug 19, 2025
Developmental and epileptic encephalopathy, 125Aug 19, 2025
Developmental and epileptic encephalopathy, 1837Aug 19, 2025
Developmental and epileptic encephalopathy, 1910Aug 19, 2025
Developmental and epileptic encephalopathy, 212Aug 19, 2025
Developmental and epileptic encephalopathy, 211Aug 19, 2025
Developmental and epileptic encephalopathy, 2310Aug 19, 2025
Developmental and epileptic encephalopathy, 256Aug 19, 2025
Developmental and epileptic encephalopathy, 269Aug 19, 2025
Developmental and epileptic encephalopathy, 310Aug 19, 2025
Developmental and epileptic encephalopathy, 3014Aug 19, 2025
Developmental and epileptic encephalopathy, 323Aug 19, 2025
Developmental and epileptic encephalopathy, 3410Aug 19, 2025
Developmental and epileptic encephalopathy, 3613Aug 19, 2025
Developmental and epileptic encephalopathy, 377Aug 19, 2025
Developmental and epileptic encephalopathy, 382Aug 19, 2025
Developmental and epileptic encephalopathy, 391Aug 19, 2025
Developmental and epileptic encephalopathy, 421Aug 19, 2025
Developmental and epileptic encephalopathy, 402Aug 19, 2025
Developmental and epileptic encephalopathy, 4114Aug 19, 2025
Developmental and epileptic encephalopathy, 436Aug 19, 2025
Developmental and epileptic encephalopathy, 454Aug 19, 2025
Developmental and epileptic encephalopathy, 4619Aug 19, 2025
Developmental and epileptic encephalopathy, 474Aug 19, 2025
Developmental and epileptic encephalopathy, 487Aug 19, 2025
Developmental and epileptic encephalopathy, 494Aug 19, 2025
Developmental and epileptic encephalopathy, 507Aug 19, 2025
Developmental and epileptic encephalopathy, 513Aug 19, 2025
Developmental and epileptic encephalopathy, 5410Aug 19, 2025
Developmental and epileptic encephalopathy, 551Aug 19, 2025
Developmental and epileptic encephalopathy, 561Aug 19, 2025
Developmental and epileptic encephalopathy, 575Aug 19, 2025
Developmental and epileptic encephalopathy, 601Aug 19, 2025
Developmental and epileptic encephalopathy, 612Aug 19, 2025
Developmental and epileptic encephalopathy, 646Aug 19, 2025
Developmental and epileptic encephalopathy, 659Aug 19, 2025
Developmental and epileptic encephalopathy, 6615Aug 19, 2025
Developmental and epileptic encephalopathy, 6722Aug 19, 2025
Developmental and epileptic encephalopathy, 683Aug 19, 2025
Developmental and epileptic encephalopathy, 6919Aug 19, 2025
Developmental and epileptic encephalopathy, 708Aug 19, 2025
Developmental and epileptic encephalopathy, 723Aug 19, 2025
Developmental and epileptic encephalopathy, 731Aug 19, 2025
Developmental and epileptic encephalopathy, 751Aug 19, 2025
Developmental and epileptic encephalopathy, 776Aug 19, 2025
Developmental and epileptic encephalopathy, 785Aug 19, 2025
Developmental and epileptic encephalopathy, 795Aug 19, 2025
Developmental and epileptic encephalopathy, 85Aug 19, 2025
Developmental and epileptic encephalopathy, 806Aug 19, 2025
Developmental and epileptic encephalopathy, 821Aug 19, 2025
Developmental and epileptic encephalopathy, 843Aug 19, 2025
Developmental and epileptic encephalopathy, 861Aug 19, 2025
Developmental and epileptic encephalopathy, 871Aug 19, 2025
Developmental and epileptic encephalopathy, 920Aug 19, 2025
Developmental delay with or without intellectual impairment or behavioral abnormalities3Aug 19, 2025
Developmental delay with short stature, dysmorphic facial features, and sparse hair 15Aug 19, 2025
Developmental delay with variable intellectual disability and dysmorphic facies1Aug 19, 2025
Developmental delay with variable intellectual impairment and behavioral abnormalities40Aug 19, 2025
Developmental delay with variable neurologic and brain abnormalities4Aug 19, 2025
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders4Aug 19, 2025
Developmental delay, impaired speech, and behavioral abnormalities12Aug 19, 2025
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures4Aug 19, 2025
Diabetes insipidus, nephrogenic, autosomal5Aug 19, 2025
Diabetes mellitus, transient neonatal, 12Aug 19, 2025
Diamond-Blackfan anemia 116Aug 19, 2025
Diamond-Blackfan anemia 1010Aug 19, 2025
Diamond-Blackfan anemia 32Aug 19, 2025
Diamond-Blackfan anemia 59Aug 19, 2025
Diamond-Blackfan anemia 625Aug 19, 2025
Diamond-Blackfan anemia 714Aug 19, 2025
Diamond-Blackfan anemia 810Aug 19, 2025
Diaphanospondylodysostosis8Aug 19, 2025
Diarrhea 91Aug 19, 2025
Dias-Logan syndrome6Aug 19, 2025
Diencephalic-mesencephalic junction dysplasia syndrome 110Aug 19, 2025
Diets-Jongmans syndrome1Aug 19, 2025
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome12Aug 19, 2025
Dihydropteridine reductase deficiency4Aug 19, 2025
Dihydropyrimidinase deficiency4Aug 19, 2025
Dihydropyrimidine dehydrogenase deficiency12Aug 19, 2025
Dilated cardiomyopathy 1DD7Aug 19, 2025
Dilated cardiomyopathy 1JJ8Aug 19, 2025
Distal arthrogryposis type 2B13Aug 19, 2025
Distal arthrogryposis type 5D11Aug 19, 2025
Distichiasis-lymphedema syndrome3Aug 19, 2025
Donnai-Barrow syndrome17Aug 19, 2025
Dopa-responsive dystonia due to sepiapterin reductase deficiency6Aug 19, 2025
Doyne honeycomb retinal dystrophy3Aug 19, 2025
Duane retraction syndrome 21Aug 19, 2025
Dubin-Johnson syndrome15Aug 19, 2025
Dworschak-Punetha neurodevelopmental syndrome3Aug 19, 2025
Dyskeratosis congenita, autosomal dominant 61Aug 19, 2025
Dystonia 162Aug 19, 2025
Dystonia 245Aug 19, 2025
Dystonia 304Aug 19, 2025
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome26Aug 19, 2025
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome3Aug 19, 2025
Ectodermal dysplasia 9, hair/nail type2Aug 19, 2025
Ectodermal dysplasia and immunodeficiency 21Aug 19, 2025
Ectodermal dysplasia-syndactyly syndrome 11Aug 19, 2025
Ehlers-Danlos syndrome, classic type, 214Aug 19, 2025
Ehlers-Danlos syndrome, classic-like, 26Aug 19, 2025
Ehlers-Danlos syndrome, dermatosparaxis type8Aug 19, 2025
Ehlers-Danlos syndrome, kyphoscoliotic type 16Aug 19, 2025
Ehlers-Danlos syndrome, kyphoscoliotic type, 24Aug 19, 2025
Ehlers-Danlos syndrome, musculocontractural type 13Aug 19, 2025
Ehlers-Danlos syndrome, musculocontractural type 21Aug 19, 2025
Ehlers-Danlos syndrome, periodontal type 13Aug 19, 2025
Ehlers-Danlos syndrome, spondylocheirodysplastic type3Aug 19, 2025
Ehlers-Danlos syndrome, spondylodysplastic type, 15Aug 19, 2025
Eichsfeld type congenital muscular dystrophy79Aug 19, 2025
Elliptocytosis 153Aug 19, 2025
Emery-Dreifuss muscular dystrophy 1, X-linked28Aug 19, 2025
Emery-Dreifuss muscular dystrophy 5, autosomal dominant407Aug 19, 2025
Encephalopathy due to defective mitochondrial and peroxisomal fission 21Aug 19, 2025
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1Aug 19, 2025
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 13Aug 19, 2025
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome4Aug 19, 2025
Endocrine-cerebro-osteodysplasia syndrome1Aug 19, 2025
Enterokinase deficiency5Aug 19, 2025
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive3Aug 19, 2025
Epidermolysis bullosa simplex due to plakophilin deficiency2Aug 19, 2025
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome2Aug 19, 2025
Epidermolytic palmoplantar keratoderma, 12Aug 19, 2025
Epilepsy with myoclonic atonic seizures12Aug 19, 2025
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features2Aug 19, 2025
Epilepsy, early-onset, vitamin B6-dependent5Aug 19, 2025
Epilepsy, familial adult myoclonic, 21Aug 19, 2025
Epilepsy, familial adult myoclonic, 31Aug 19, 2025
Epilepsy, familial adult myoclonic, 52Aug 19, 2025
Epilepsy, familial focal, with variable foci 28Aug 19, 2025
Epilepsy, familial focal, with variable foci 310Aug 19, 2025
Epilepsy, idiopathic generalized, susceptibility to, 178Aug 19, 2025
Epilepsy, progressive myoclonic, 115Aug 19, 2025
Epilepsy, progressive myoclonic, 1B5Aug 19, 2025
Episodic ataxia type 18Aug 19, 2025
Episodic ataxia type 51Aug 19, 2025
Episodic ataxia type 66Aug 19, 2025
Episodic pain syndrome, familial, 29Aug 19, 2025
Erythrocytosis, familial, 44Aug 19, 2025
Erythrokeratodermia variabilis et progressiva 21Aug 19, 2025
Essential fructosuria1Aug 19, 2025
Essential hypertension, genetic1Aug 19, 2025
Ethylmalonic encephalopathy5Aug 19, 2025
Exudative vitreoretinopathy 13Aug 19, 2025
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 51Aug 19, 2025
FOXG1 disorder8Aug 19, 2025
FRAXE10Aug 19, 2025
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome8Aug 19, 2025
Factor I deficiency4Aug 19, 2025
Factor XIII, A subunit, deficiency of2Aug 19, 2025
Factor XIII, b subunit, deficiency of1Aug 19, 2025
Familial X-linked hypophosphatemic vitamin D refractory rickets6Aug 19, 2025
Familial adenomatous polyposis 252Aug 19, 2025
Familial adenomatous polyposis 34Aug 19, 2025
Familial adenomatous polyposis 44Aug 19, 2025
Familial benign pemphigus1Aug 19, 2025
Familial cavitary optic disk anomaly1Aug 19, 2025
Familial cold autoinflammatory syndrome 215Aug 19, 2025
Familial dysautonomia6Aug 19, 2025
Familial encephalopathy with neuroserpin inclusion bodies3Aug 19, 2025
Familial episodic pain syndrome with predominantly upper body involvement2Aug 19, 2025
Familial hemophagocytic lymphohistiocytosis 320Aug 19, 2025
Familial hemophagocytic lymphohistiocytosis 42Aug 19, 2025
Familial hemophagocytic lymphohistiocytosis 56Aug 19, 2025
Familial hypobetalipoproteinemia 21Aug 19, 2025
Familial hypocalciuric hypercalcemia 31Aug 19, 2025
Familial hypokalemia-hypomagnesemia47Aug 19, 2025
Familial infantile bilateral striatal necrosis1Aug 19, 2025
Familial infantile myasthenia55Aug 19, 2025
Familial isolated deficiency of vitamin E2Aug 19, 2025
Familial juvenile hyperuricemic nephropathy type 17Aug 19, 2025
Familial porphyria cutanea tarda4Aug 19, 2025
Familial pulmonary capillary hemangiomatosis2Aug 19, 2025
Familial renal glucosuria6Aug 19, 2025
Familial steroid-resistant nephrotic syndrome with sensorineural deafness3Aug 19, 2025
Familial type 5 hyperlipoproteinemia2Aug 19, 2025
Fanconi anemia complementation group A66Aug 19, 2025
Fanconi anemia complementation group B6Aug 19, 2025
Fanconi anemia complementation group C19Aug 19, 2025
Fanconi anemia complementation group D227Aug 19, 2025
Fanconi anemia complementation group E9Aug 19, 2025
Fanconi anemia complementation group F3Aug 19, 2025
Fanconi anemia complementation group G13Aug 19, 2025
Fanconi anemia complementation group I10Aug 19, 2025
Fanconi anemia complementation group J46Aug 19, 2025
Fanconi anemia complementation group L4Aug 19, 2025
Fanconi anemia complementation group O9Aug 19, 2025
Fanconi anemia complementation group P19Aug 19, 2025
Fanconi anemia complementation group T1Aug 19, 2025
Fanconi renotubular syndrome 31Aug 19, 2025
Fanconi-Bickel syndrome5Aug 19, 2025
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 35Aug 19, 2025
Feingold syndrome type 13Aug 19, 2025
Female infertility due to zona pellucida defect1Aug 19, 2025
Fetal akinesia deformation sequence 43Aug 19, 2025
Fibrosis of extraocular muscles, congenital, 21Aug 19, 2025
Fibrosis of extraocular muscles, congenital, 51Aug 19, 2025
Fibrosis, neurodegeneration, and cerebral angiomatosis1Aug 19, 2025
Filippi syndrome5Aug 19, 2025
Finnish congenital nephrotic syndrome22Aug 19, 2025
Finnish type amyloidosis2Aug 19, 2025
Fleck corneal dystrophy2Aug 19, 2025
Focal dermal hypoplasia4Aug 19, 2025
Focal segmental glomerulosclerosis 12Aug 19, 2025
Focal segmental glomerulosclerosis 21Aug 19, 2025
Focal segmental glomerulosclerosis 3, susceptibility to3Aug 19, 2025
Focal segmental glomerulosclerosis 61Aug 19, 2025
Focal segmental glomerulosclerosis 82Aug 19, 2025
Focal segmental glomerulosclerosis and neurodevelopmental syndrome2Aug 19, 2025
Fontaine progeroid syndrome2Aug 19, 2025
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome6Aug 19, 2025
Fowler syndrome2Aug 19, 2025
Frank-Ter Haar syndrome4Aug 19, 2025
Fraser syndrome 143Aug 19, 2025
Fraser syndrome 33Aug 19, 2025
Friedreich ataxia 11Aug 19, 2025
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11Aug 19, 2025
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Aug 19, 2025
Frontotemporal dementia and/or amyotrophic lateral sclerosis 73Aug 19, 2025
Fructose-biphosphatase deficiency3Aug 19, 2025
Fucosidosis3Aug 19, 2025
GCGR-related hyperglucagonemia1Aug 19, 2025
GM3 synthase deficiency6Aug 19, 2025
GNPTG-mucolipidosis6Aug 19, 2025
Gabriele de Vries syndrome5Aug 19, 2025
Galloway-Mowat syndrome 110Aug 19, 2025
Galloway-Mowat syndrome 2, X-linked1Aug 19, 2025
Galloway-Mowat syndrome 33Aug 19, 2025
Gamma-glutamylcysteine synthetase deficiency29Aug 19, 2025
Gastrointestinal defects and immunodeficiency syndrome 14Aug 19, 2025
Gaze palsy, familial horizontal, with progressive scoliosis 11Aug 19, 2025
Geleophysic dysplasia 14Aug 19, 2025
Generalized epilepsy with febrile seizures plus, type 92Aug 19, 2025
Genitourinary and/or brain malformation syndrome1Aug 19, 2025
Geroderma osteodysplastica3Aug 19, 2025
Ghosal hematodiaphyseal dysplasia3Aug 19, 2025
Giant axonal neuropathy 14Aug 19, 2025
Giant axonal neuropathy 22Aug 19, 2025
Glaucoma 1, open angle, A2Aug 19, 2025
Glaucoma 1, open angle, G1Aug 19, 2025
Global developmental delay with or without impaired intellectual development17Aug 19, 2025
Global developmental delay with speech and behavioral abnormalities15Aug 19, 2025
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies5Aug 19, 2025
Glomuvenous malformation7Aug 19, 2025
Glucocorticoid deficiency 11Aug 19, 2025
Glucocorticoid deficiency with achalasia11Aug 19, 2025
Glucocorticoid resistance2Aug 19, 2025
Glutamate formiminotransferase deficiency2Aug 19, 2025
Glutamate pyruvate transaminase 2 deficiency1Aug 19, 2025
Glutaric aciduria, type 130Aug 19, 2025
Gluthathione peroxidase deficiency29Aug 19, 2025
Glycine encephalopathy 133Aug 19, 2025
Glycine encephalopathy 212Aug 19, 2025
Glycogen storage disease IXa19Aug 19, 2025
Glycogen storage disease IXb6Aug 19, 2025
Glycogen storage disease IXc2Aug 19, 2025
Glycogen storage disease IXd13Aug 19, 2025
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA21Aug 19, 2025
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency2Aug 19, 2025
Glycogen storage disease due to muscle and heart glycogen synthase deficiency7Aug 19, 2025
Glycogen storage disease due to muscle beta-enolase deficiency2Aug 19, 2025
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency21Aug 19, 2025
Glycogen storage disease type III41Aug 19, 2025
Glycogen storage disease type X4Aug 19, 2025
Glycogen storage disease, type V166Aug 19, 2025
Glycogen storage disease, type VI7Aug 19, 2025
Glycogen storage disease, type VII56Aug 19, 2025
Glycogen storage disorder due to hepatic glycogen synthase deficiency8Aug 19, 2025
Glycosylphosphatidylinositol biosynthesis defect 157Aug 19, 2025
Glycosylphosphatidylinositol biosynthesis defect 162Aug 19, 2025
Glycosylphosphatidylinositol biosynthesis defect 212Aug 19, 2025
Goldberg-Shprintzen syndrome2Aug 19, 2025
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3Aug 19, 2025
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 12Aug 19, 2025
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 26Aug 19, 2025
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31Aug 19, 2025
Gray platelet syndrome1Aug 19, 2025
Griscelli syndrome type 12Aug 19, 2025
Griscelli syndrome type 26Aug 19, 2025
Griscelli syndrome type 33Aug 19, 2025
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome2Aug 19, 2025
Growth delay due to insulin-like growth factor I resistance14Aug 19, 2025
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Aug 19, 2025
H syndrome1Aug 19, 2025
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 61Aug 19, 2025
HNSHA due to aldolase A deficiency44Aug 19, 2025
HSD10 mitochondrial disease2Aug 19, 2025
Hao-Fountain syndrome due to USP7 mutation1Aug 19, 2025
Hatipoglu immunodeficiency syndrome1Aug 19, 2025
Hearing loss, X-linked 63Aug 19, 2025
Hearing loss, autosomal dominant 764Aug 19, 2025
Hearing loss, autosomal dominant 821Aug 19, 2025
Hearing loss, autosomal recessive 1112Aug 19, 2025
Hearing loss, autosomal recessive 1121Aug 19, 2025
Hearing loss, autosomal recessive 991Aug 19, 2025
Heme oxygenase 1 deficiency1Aug 19, 2025
Hemochromatosis type 14Aug 19, 2025
Hemochromatosis type 2A2Aug 19, 2025
Hemochromatosis type 2B1Aug 19, 2025
Hemochromatosis type 38Aug 19, 2025
Hemochromatosis type 41Aug 19, 2025
Hemolytic anemia due to adenylate kinase deficiency22Aug 19, 2025
Hemolytic anemia due to glucophosphate isomerase deficiency65Aug 19, 2025
Hemolytic anemia due to glutathione reductase deficiency50Aug 19, 2025
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency21Aug 19, 2025
Hennekam lymphangiectasia-lymphedema syndrome 12Aug 19, 2025
Hepatic methionine adenosyltransferase deficiency6Aug 19, 2025
Hepatic veno-occlusive disease-immunodeficiency syndrome5Aug 19, 2025
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 111Aug 19, 2025
Hereditary acrodermatitis enteropathica6Aug 19, 2025
Hereditary antithrombin deficiency4Aug 19, 2025
Hereditary arterial and articular multiple calcification syndrome2Aug 19, 2025
Hereditary cerebral amyloid angiopathy, Icelandic type2Aug 19, 2025
Hereditary factor XI deficiency disease25Aug 19, 2025
Hereditary fructosuria6Aug 19, 2025
Hereditary insensitivity to pain with anhidrosis6Aug 19, 2025
Hereditary intrinsic factor deficiency1Aug 19, 2025
Hereditary myopathy with lactic acidosis due to ISCU deficiency4Aug 19, 2025
Hereditary orotic aciduria1Aug 19, 2025
Hereditary pancreatitis2Aug 19, 2025
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1Aug 19, 2025
Hereditary sensory and autonomic neuropathy with spastic paraplegia4Aug 19, 2025
Hereditary spastic paraplegia 126Aug 19, 2025
Hereditary spastic paraplegia 1526Aug 19, 2025
Hereditary spastic paraplegia 261Aug 19, 2025
Hereditary spastic paraplegia 333Aug 19, 2025
Hereditary spastic paraplegia 355Aug 19, 2025
Hereditary spastic paraplegia 411Aug 19, 2025
Hereditary spastic paraplegia 466Aug 19, 2025
Hereditary spastic paraplegia 476Aug 19, 2025
Hereditary spastic paraplegia 4812Aug 19, 2025
Hereditary spastic paraplegia 498Aug 19, 2025
Hereditary spastic paraplegia 503Aug 19, 2025
Hereditary spastic paraplegia 525Aug 19, 2025
Hereditary spastic paraplegia 543Aug 19, 2025
Hereditary spastic paraplegia 564Aug 19, 2025
Hereditary spastic paraplegia 63Aug 19, 2025
Hereditary spastic paraplegia 621Aug 19, 2025
Hereditary spastic paraplegia 724Aug 19, 2025
Hereditary spastic paraplegia 732Aug 19, 2025
Hereditary spherocytosis type 1406Aug 19, 2025
Hereditary spherocytosis type 569Aug 19, 2025
Hereditary xanthinuria type 16Aug 19, 2025
Hermansky-Pudlak syndrome 111Aug 19, 2025
Hermansky-Pudlak syndrome 101Aug 19, 2025
Hermansky-Pudlak syndrome 23Aug 19, 2025
Hermansky-Pudlak syndrome 315Aug 19, 2025
Hermansky-Pudlak syndrome 43Aug 19, 2025
Hermansky-Pudlak syndrome 53Aug 19, 2025
Hermansky-Pudlak syndrome 65Aug 19, 2025
Hermansky-Pudlak syndrome 71Aug 19, 2025
Heterotaxy, visceral, 11, autosomal, with male infertility1Aug 19, 2025
Heterotaxy, visceral, 4, autosomal2Aug 19, 2025
Heterotaxy, visceral, 5, autosomal1Aug 19, 2025
Heterotaxy, visceral, 6, autosomal1Aug 19, 2025
Heterotaxy, visceral, 7, autosomal4Aug 19, 2025
Heterotaxy, visceral, 8, autosomal13Aug 19, 2025
Heterotaxy, visceral, 9, autosomal, with male infertility1Aug 19, 2025
High myopia-sensorineural deafness syndrome1Aug 19, 2025
Hirschsprung disease, cardiac defects, and autonomic dysfunction1Aug 19, 2025
Histidinemia1Aug 19, 2025
Holocarboxylase synthetase deficiency11Aug 19, 2025
Holoprosencephaly 116Aug 19, 2025
Holoprosencephaly 41Aug 19, 2025
Holoprosencephaly 55Aug 19, 2025
Holt-Oram syndrome6Aug 19, 2025
Houge-Janssens syndrome 17Aug 19, 2025
Houge-Janssens syndrome 24Aug 19, 2025
Houge-Janssens syndrome 31Aug 19, 2025
Hyaline fibromatosis syndrome3Aug 19, 2025
Hydatidiform mole, recurrent, 13Aug 19, 2025
Hydrocephalus, nonsyndromic, autosomal recessive 218Aug 19, 2025
Hyper-IgM syndrome type 11Aug 19, 2025
Hyper-IgM syndrome type 21Aug 19, 2025
Hyper-IgM syndrome type 51Aug 19, 2025
Hyperaldosteronism, familial, type IV20Aug 19, 2025
Hyperalphalipoproteinemia 18Aug 19, 2025
Hyperammonemia, type III8Aug 19, 2025
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency6Aug 19, 2025
Hyperbiliverdinemia1Aug 19, 2025
Hypercalcemia, infantile, 19Aug 19, 2025
Hypercholanemia, familial, 21Aug 19, 2025
Hypercholesterolemia, autosomal dominant, 37Aug 19, 2025
Hypercholesterolemia, familial, 1149Aug 19, 2025
Hypercholesterolemia, familial, 418Aug 19, 2025
Hyperekplexia 17Aug 19, 2025
Hyperekplexia 34Aug 19, 2025
Hyperinsulinism-hyperammonemia syndrome3Aug 19, 2025
Hyperlysinemia2Aug 19, 2025
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1Aug 19, 2025
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase3Aug 19, 2025
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome5Aug 19, 2025
Hyperparathyroidism, transient neonatal4Aug 19, 2025
Hyperphosphatasemia with bone disease1Aug 19, 2025
Hyperphosphatasia with intellectual disability syndrome 14Aug 19, 2025
Hyperphosphatasia with intellectual disability syndrome 25Aug 19, 2025
Hyperphosphatasia with intellectual disability syndrome 32Aug 19, 2025
Hyperphosphatasia with intellectual disability syndrome 47Aug 19, 2025
Hyperphosphatasia with intellectual disability syndrome 51Aug 19, 2025
Hyperprolinemia type 23Aug 19, 2025
Hypertriglyceridemia 21Aug 19, 2025
Hypertrophic cardiomyopathy 11Aug 19, 2025
Hypertrophic cardiomyopathy 163Aug 19, 2025
Hypertrophic cardiomyopathy 81Aug 19, 2025
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome4Aug 19, 2025
Hyperuricemic nephropathy, familial juvenile type 41Aug 19, 2025
Hypogonadotropic hypogonadism 1 with or without anosmia1Aug 19, 2025
Hypogonadotropic hypogonadism 11 with or without anosmia1Aug 19, 2025
Hypogonadotropic hypogonadism 21 with or without anosmia1Aug 19, 2025
Hypogonadotropic hypogonadism 25 with anosmia1Aug 19, 2025
Hypogonadotropic hypogonadism 3 with or without anosmia6Aug 19, 2025
Hypogonadotropic hypogonadism 6 with or without anosmia3Aug 19, 2025
Hypogonadotropic hypogonadism 7 with or without anosmia2Aug 19, 2025
Hypogonadotropic hypogonadism 9 with or without anosmia1Aug 19, 2025
Hypokalemic tubulopathy and deafness1Aug 19, 2025
Hypomyelination and Congenital Cataract3Aug 19, 2025
Hypomyelination with brain stem and spinal cord involvement and leg spasticity1Aug 19, 2025
Hypoparathyroidism, deafness, renal disease syndrome4Aug 19, 2025
Hypoparathyroidism, familial isolated 11Aug 19, 2025
Hypophosphatemic nephrolithiasis/osteoporosis 21Aug 19, 2025
Hypophosphatemic rickets, autosomal recessive, 13Aug 19, 2025
Hypospadias 2, X-linked1Aug 19, 2025
Hypotaurinemic retinal degeneration and cardiomyopathy1Aug 19, 2025
Hypothalamic hypothyroidism1Aug 19, 2025
Hypothyroidism, congenital, nongoitrous, 24Aug 19, 2025
Hypothyroidism, congenital, nongoitrous, 71Aug 19, 2025
Hypotonia, ataxia, and delayed development syndrome15Aug 19, 2025
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome9Aug 19, 2025
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities4Aug 19, 2025
Hypotonia, infantile, with psychomotor retardation and characteristic facies 231Aug 19, 2025
Hypotonia, infantile, with psychomotor retardation and characteristic facies 310Aug 19, 2025
Hypotonia-failure to thrive-microcephaly syndrome1Aug 19, 2025
Hypotrichosis 61Aug 19, 2025
Hypotrichosis 73Aug 19, 2025
Hypouricemia, renal, 29Aug 19, 2025
Ichthyosis prematurity syndrome3Aug 19, 2025
Ichthyosis vulgaris19Aug 19, 2025
Idiopathic basal ganglia calcification 14Aug 19, 2025
Idiopathic hypereosinophilic syndrome11Aug 19, 2025
Imagawa-Matsumoto syndrome1Aug 19, 2025
Imerslund-Grasbeck syndrome type 22Aug 19, 2025
Immune dysregulation, autoimmunity, and autoinflammation1Aug 19, 2025
Immunodeficiency 1043Aug 19, 2025
Immunodeficiency 1054Aug 19, 2025
Immunodeficiency 183Aug 19, 2025
Immunodeficiency 191Aug 19, 2025
Immunodeficiency 237Aug 19, 2025
Immunodeficiency 359Aug 19, 2025
Immunodeficiency 475Aug 19, 2025
Immunodeficiency 513Aug 19, 2025
Immunodeficiency 601Aug 19, 2025
Immunodeficiency 622Aug 19, 2025
Immunodeficiency 63 with lymphoproliferation and autoimmunity1Aug 19, 2025
Immunodeficiency 642Aug 19, 2025
Immunodeficiency 672Aug 19, 2025
Immunodeficiency 72 with autoinflammation3Aug 19, 2025
Immunodeficiency 754Aug 19, 2025
Immunodeficiency 762Aug 19, 2025
Immunodeficiency 772Aug 19, 2025
Immunodeficiency 78 with autoimmunity and developmental delay1Aug 19, 2025
Immunodeficiency 80 with or without congenital cardiomyopathy1Aug 19, 2025
Immunodeficiency 91 and hyperinflammation2Aug 19, 2025
Immunodeficiency 962Aug 19, 2025
Immunodeficiency 98 with autoinflammation, X-linked1Aug 19, 2025
Immunodeficiency due to MASP-2 deficiency3Aug 19, 2025
Immunodeficiency due to ficolin3 deficiency3Aug 19, 2025
Immunodeficiency, common variable, 102Aug 19, 2025
Immunodeficiency, common variable, 125Aug 19, 2025
Immunodeficiency, common variable, 141Aug 19, 2025
Immunodeficiency, common variable, 31Aug 19, 2025
Immunodeficiency, common variable, 41Aug 19, 2025
Immunodeficiency, common variable, 51Aug 19, 2025
Immunodeficiency, common variable, 62Aug 19, 2025
Immunodeficiency, common variable, 75Aug 19, 2025
Immunodeficiency, developmental delay, and hypohomocysteinemia1Aug 19, 2025
Immunodeficiency-centromeric instability-facial anomalies syndrome 22Aug 19, 2025
Immunodeficiency-centromeric instability-facial anomalies syndrome 31Aug 19, 2025
Immunoglobulin-mediated membranoproliferative glomerulonephritis2Aug 19, 2025
Inborn glycerol kinase deficiency1Aug 19, 2025
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly6Aug 19, 2025
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Aug 19, 2025
Infantile liver failure syndrome 13Aug 19, 2025
Infantile nephronophthisis6Aug 19, 2025
Infantile-onset X-linked spinal muscular atrophy5Aug 19, 2025
Inflammatory bowel disease 252Aug 19, 2025
Inflammatory bowel disease 282Aug 19, 2025
Inherited obesity2Aug 19, 2025
Inherited prekallikrein deficiency1Aug 19, 2025
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2Aug 19, 2025
Intellectual developmental disorder 60 with seizures2Aug 19, 2025
Intellectual developmental disorder 6117Aug 19, 2025
Intellectual developmental disorder and retinitis pigmentosa; IDDRP5Aug 19, 2025
Intellectual developmental disorder with autism and macrocephaly32Aug 19, 2025
Intellectual developmental disorder with autism and speech delay10Aug 19, 2025
Intellectual developmental disorder with autistic features and language delay, with or without seizures22Aug 19, 2025
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures4Aug 19, 2025
Intellectual developmental disorder with cardiac defects and dysmorphic facies1Aug 19, 2025
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities9Aug 19, 2025
Intellectual developmental disorder with dysmorphic facies and ptosis11Aug 19, 2025
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4Aug 19, 2025
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold6Aug 19, 2025
Intellectual developmental disorder with hypertelorism and distinctive facies1Aug 19, 2025
Intellectual developmental disorder with hypotonia and behavioral abnormalities4Aug 19, 2025
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies1Aug 19, 2025
Intellectual developmental disorder with impaired language and dysmorphic facies2Aug 19, 2025
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism4Aug 19, 2025
Intellectual developmental disorder with macrocephaly, seizures, and speech delay5Aug 19, 2025
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism3Aug 19, 2025
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects1Aug 19, 2025
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies1Aug 19, 2025
Intellectual developmental disorder with neuropsychiatric features1Aug 19, 2025
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia9Aug 19, 2025
Intellectual developmental disorder with paroxysmal dyskinesia or seizures2Aug 19, 2025
Intellectual developmental disorder with poor growth and with or without seizures or ataxia14Aug 19, 2025
Intellectual developmental disorder with seizures and language delay27Aug 19, 2025
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy1Aug 19, 2025
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies6Aug 19, 2025
Intellectual developmental disorder, X-linked 1085Aug 19, 2025
Intellectual developmental disorder, X-linked 1111Aug 19, 2025
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type3Aug 19, 2025
Intellectual developmental disorder, X-linked, syndromic, Pilorge type2Aug 19, 2025
Intellectual developmental disorder, autosomal dominant 6421Aug 19, 2025
Intellectual developmental disorder, autosomal dominant 657Aug 19, 2025
Intellectual developmental disorder, autosomal dominant 664Aug 19, 2025
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities2Aug 19, 2025
Intellectual developmental disorder, autosomal recessive 671Aug 19, 2025
Intellectual developmental disorder, autosomal recessive 682Aug 19, 2025
Intellectual developmental disorder, autosomal recessive 693Aug 19, 2025
Intellectual disability, FRA12A type9Aug 19, 2025
Intellectual disability, X-linked 111Aug 19, 2025
Intellectual disability, X-linked 1011Aug 19, 2025
Intellectual disability, X-linked 10211Aug 19, 2025
Intellectual disability, X-linked 10413Aug 19, 2025
Intellectual disability, X-linked 1051Aug 19, 2025
Intellectual disability, X-linked 1063Aug 19, 2025
Intellectual disability, X-linked 214Aug 19, 2025
Intellectual disability, X-linked 307Aug 19, 2025
Intellectual disability, X-linked 414Aug 19, 2025
Intellectual disability, X-linked 496Aug 19, 2025
Intellectual disability, X-linked 614Aug 19, 2025
Intellectual disability, X-linked 633Aug 19, 2025
Intellectual disability, X-linked 907Aug 19, 2025
Intellectual disability, X-linked 9311Aug 19, 2025
Intellectual disability, X-linked 961Aug 19, 2025
Intellectual disability, X-linked 975Aug 19, 2025
Intellectual disability, X-linked syndromic, Turner type31Aug 19, 2025
Intellectual disability, X-linked, syndromic, Bain type3Aug 19, 2025
Intellectual disability, X-linked, syndromic, Houge type6Aug 19, 2025
Intellectual disability, autosomal dominant 101Aug 19, 2025
Intellectual disability, autosomal dominant 1424Aug 19, 2025
Intellectual disability, autosomal dominant 155Aug 19, 2025
Intellectual disability, autosomal dominant 1617Aug 19, 2025
Intellectual disability, autosomal dominant 222Aug 19, 2025
Intellectual disability, autosomal dominant 309Aug 19, 2025
Intellectual disability, autosomal dominant 335Aug 19, 2025
Intellectual disability, autosomal dominant 348Aug 19, 2025
Intellectual disability, autosomal dominant 3912Aug 19, 2025
Intellectual disability, autosomal dominant 4013Aug 19, 2025
Intellectual disability, autosomal dominant 422Aug 19, 2025
Intellectual disability, autosomal dominant 4342Aug 19, 2025
Intellectual disability, autosomal dominant 4517Aug 19, 2025
Intellectual disability, autosomal dominant 467Aug 19, 2025
Intellectual disability, autosomal dominant 4710Aug 19, 2025
Intellectual disability, autosomal dominant 483Aug 19, 2025
Intellectual disability, autosomal dominant 5010Aug 19, 2025
Intellectual disability, autosomal dominant 518Aug 19, 2025
Intellectual disability, autosomal dominant 5247Aug 19, 2025
Intellectual disability, autosomal dominant 544Aug 19, 2025
Intellectual disability, autosomal dominant 566Aug 19, 2025
Intellectual disability, autosomal dominant 576Aug 19, 2025
Intellectual disability, autosomal dominant 583Aug 19, 2025
Intellectual disability, autosomal recessive 14Aug 19, 2025
Intellectual disability, autosomal recessive 1313Aug 19, 2025
Intellectual disability, autosomal recessive 21Aug 19, 2025
Intellectual disability, autosomal recessive 274Aug 19, 2025
Intellectual disability, autosomal recessive 314Aug 19, 2025
Intellectual disability, autosomal recessive 342Aug 19, 2025
Intellectual disability, autosomal recessive 421Aug 19, 2025
Intellectual disability, autosomal recessive 432Aug 19, 2025
Intellectual disability, autosomal recessive 443Aug 19, 2025
Intellectual disability, autosomal recessive 466Aug 19, 2025
Intellectual disability, autosomal recessive 479Aug 19, 2025
Intellectual disability, autosomal recessive 55Aug 19, 2025
Intellectual disability, autosomal recessive 512Aug 19, 2025
Intellectual disability, autosomal recessive 541Aug 19, 2025
Intellectual disability, autosomal recessive 573Aug 19, 2025
Intellectual disability, autosomal recessive 615Aug 19, 2025
Intellectual disability, autosomal recessive 641Aug 19, 2025
Intellectual disability, autosomal recessive 6511Aug 19, 2025
Intellectual disability, autosomal recessive 664Aug 19, 2025
Intellectual disability, autosomal recessive 71Aug 19, 2025
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency24Aug 19, 2025
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome25Aug 19, 2025
Intellectual disability-severe speech delay-mild dysmorphism syndrome15Aug 19, 2025
Intellectual disability-strabismus syndrome4Aug 19, 2025
Interstitial lung disease due to ABCA3 deficiency14Aug 19, 2025
Intestinal hypomagnesemia 13Aug 19, 2025
Iodotyrosyl coupling defect28Aug 19, 2025
Iron-refractory iron deficiency anemia5Aug 19, 2025
Isolated anhidrosis with normal sweat glands1Aug 19, 2025
Isolated growth hormone deficiency, type 44Aug 19, 2025
Isolated hyperchlorhidrosis1Aug 19, 2025
Isolated microphthalmia 31Aug 19, 2025
Isolated microphthalmia 81Aug 19, 2025
Isolated thyroid-stimulating hormone deficiency2Aug 19, 2025
Isovaleryl-CoA dehydrogenase deficiency13Aug 19, 2025
Jaberi-Elahi syndrome5Aug 19, 2025
Johanson-Blizzard syndrome3Aug 19, 2025
Joint laxity, short stature, and myopia1Aug 19, 2025
Joubert syndrome 133Aug 19, 2025
Joubert syndrome 145Aug 19, 2025
Joubert syndrome 151Aug 19, 2025
Joubert syndrome 161Aug 19, 2025
Joubert syndrome 2115Aug 19, 2025
Joubert syndrome 221Aug 19, 2025
Joubert syndrome 262Aug 19, 2025
Joubert syndrome 317Aug 19, 2025
Joubert syndrome 304Aug 19, 2025
Joubert syndrome 333Aug 19, 2025
Joubert syndrome 362Aug 19, 2025
Joubert syndrome 371Aug 19, 2025
Joubert syndrome 85Aug 19, 2025
Juvenile cataract-microcornea-renal glucosuria syndrome1Aug 19, 2025
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome1Aug 19, 2025
KBG syndrome41Aug 19, 2025
KINSSHIP syndrome2Aug 19, 2025
KNOPS BLOOD GROUP SYSTEM1Aug 19, 2025
Kabuki syndrome 28Aug 19, 2025
Kartagener syndrome7Aug 19, 2025
Karyomegalic interstitial nephritis9Aug 19, 2025
Keipert syndrome3Aug 19, 2025
Keratosis pilaris atrophicans2Aug 19, 2025
Keutel syndrome2Aug 19, 2025
Khan-Khan-Katsanis syndrome5Aug 19, 2025
Kindler syndrome1Aug 19, 2025
Kleefstra syndrome 124Aug 19, 2025
Kleefstra syndrome 274Aug 19, 2025
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome85Aug 19, 2025
Koolen-de Vries syndrome17Aug 19, 2025
Kostmann syndrome7Aug 19, 2025
L-2-hydroxyglutaric aciduria1Aug 19, 2025
LIPE-related familial partial lipodystrophy2Aug 19, 2025
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 71Aug 19, 2025
Lamb-Shaffer syndrome12Aug 19, 2025
Landau-Kleffner syndrome29Aug 19, 2025
Larsen-like syndrome, B3GAT3 type2Aug 19, 2025
Leber congenital amaurosis 136Aug 19, 2025
Leber congenital amaurosis 141Aug 19, 2025
Leber congenital amaurosis 191Aug 19, 2025
Leber congenital amaurosis 33Aug 19, 2025
Leber congenital amaurosis 47Aug 19, 2025
Leber congenital amaurosis 53Aug 19, 2025
Left ventricular noncompaction 16Aug 19, 2025
Left ventricular noncompaction 73Aug 19, 2025
Left ventricular noncompaction 87Aug 19, 2025
Legius syndrome5Aug 19, 2025
Lenz-Majewski hyperostosis syndrome1Aug 19, 2025
Lessel-Kreienkamp syndrome3Aug 19, 2025
Lethal congenital contracture syndrome 113Aug 19, 2025
Lethal congenital contracture syndrome 31Aug 19, 2025
Lethal congenital contracture syndrome 82Aug 19, 2025
Lethal congenital contracture syndrome 93Aug 19, 2025
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1Aug 19, 2025
Lethal osteosclerotic bone dysplasia1Aug 19, 2025
Lethal polymalformative syndrome, Boissel type4Aug 19, 2025
Leukocyte adhesion deficiency 14Aug 19, 2025
Leukocyte adhesion deficiency 32Aug 19, 2025
Leukocyte adhesion deficiency type II1Aug 19, 2025
Leukodystrophy and acquired microcephaly with or without dystonia;3Aug 19, 2025
Leukodystrophy, hypomyelinating, 106Aug 19, 2025
Leukodystrophy, hypomyelinating, 131Aug 19, 2025
Leukodystrophy, hypomyelinating, 152Aug 19, 2025
Leukodystrophy, hypomyelinating, 161Aug 19, 2025
Leukodystrophy, hypomyelinating, 182Aug 19, 2025
Leukodystrophy, hypomyelinating, 19, transient infantile1Aug 19, 2025
Leukodystrophy, hypomyelinating, 212Aug 19, 2025
Leukodystrophy, hypomyelinating, 32Aug 19, 2025
Leukodystrophy, hypomyelinating, 97Aug 19, 2025
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome4Aug 19, 2025
Leukoencephalopathy with vanishing white matter 13Aug 19, 2025
Leukoencephalopathy with vanishing white matter 23Aug 19, 2025
Leukoencephalopathy with vanishing white matter 32Aug 19, 2025
Leukoencephalopathy with vanishing white matter 42Aug 19, 2025
Leukoencephalopathy with vanishing white matter 56Aug 19, 2025
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate1Aug 19, 2025
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome1Aug 19, 2025
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3Aug 19, 2025
Lewy body dementia1Aug 19, 2025
Li-Campeau syndrome1Aug 19, 2025
Li-Ghorbani-Weisz-Hubshman syndrome1Aug 19, 2025
Lichtenstein-Knorr syndrome2Aug 19, 2025
Linear skin defects with multiple congenital anomalies 11Aug 19, 2025
Lipase deficiency, combined1Aug 19, 2025
Lipid proteinosis3Aug 19, 2025
Lipoic acid synthetase deficiency1Aug 19, 2025
Lipoyl transferase 1 deficiency1Aug 19, 2025
Lissencephaly 108Aug 19, 2025
Lissencephaly 6 with microcephaly7Aug 19, 2025
Lissencephaly 84Aug 19, 2025
Lissencephaly 9 with complex brainstem malformation16Aug 19, 2025
Lissencephaly due to LIS1 mutation4Aug 19, 2025
Lissencephaly due to TUBA1A mutation4Aug 19, 2025
Lissencephaly type 1 due to doublecortin gene mutation3Aug 19, 2025
Liver disease, severe congenital1Aug 19, 2025
Loeys-Dietz syndrome 15Aug 19, 2025
Loeys-Dietz syndrome 43Aug 19, 2025
Long QT syndrome 101Aug 19, 2025
Long QT syndrome 1112Aug 19, 2025
Long QT syndrome 123Aug 19, 2025
Loricrin keratoderma2Aug 19, 2025
Lung disease, immunodeficiency, and chromosome breakage syndrome;1Aug 19, 2025
Lymphatic malformation 111Aug 19, 2025
Lymphatic malformation 92Aug 19, 2025
Lymphedema-posterior choanal atresia syndrome4Aug 19, 2025
Lymphoproliferative syndrome 21Aug 19, 2025
Lysinuric protein intolerance5Aug 19, 2025
MEGF8-related Carpenter syndrome9Aug 19, 2025
MHC class I deficiency 16Aug 19, 2025
MHC class II deficiency 17Aug 19, 2025
MOGS-congenital disorder of glycosylation9Aug 19, 2025
MPDU1-congenital disorder of glycosylation2Aug 19, 2025
MPI-congenital disorder of glycosylation3Aug 19, 2025
Macrocephaly, acquired, with impaired intellectual development6Aug 19, 2025
Macrocephaly, dysmorphic facies, and psychomotor retardation10Aug 19, 2025
Macrocephaly-developmental delay syndrome4Aug 19, 2025
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome12Aug 19, 2025
Macrothrombocytopenia, isolated, 1, autosomal dominant7Aug 19, 2025
Macular corneal dystrophy1Aug 19, 2025
Majeed syndrome53Aug 19, 2025
Mandibular hypoplasia-deafness-progeroid syndrome8Aug 19, 2025
Mandibulofacial dysostosis-microcephaly syndrome10Aug 19, 2025
Maple syrup urine disease type 1A41Aug 19, 2025
Marbach-Schaaf neurodevelopmental syndrome1Aug 19, 2025
Marinesco-Sjögren syndrome61Aug 19, 2025
Mast syndrome2Aug 19, 2025
Maturity-onset diabetes of the young type 112Aug 19, 2025
Maturity-onset diabetes of the young type 63Aug 19, 2025
Maturity-onset diabetes of the young type 71Aug 19, 2025
Maturity-onset diabetes of the young type 83Aug 19, 2025
Medium-chain acyl-coenzyme A dehydrogenase deficiency42Aug 19, 2025
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations4Aug 19, 2025
Megaconial type congenital muscular dystrophy15Aug 19, 2025
Megalencephalic leukoencephalopathy with subcortical cysts 19Aug 19, 2025
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting1Aug 19, 2025
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 16Aug 19, 2025
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Aug 19, 2025
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32Aug 19, 2025
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness3Aug 19, 2025
Meier-Gorlin syndrome 13Aug 19, 2025
Meier-Gorlin syndrome 21Aug 19, 2025
Meier-Gorlin syndrome 31Aug 19, 2025
Meier-Gorlin syndrome 43Aug 19, 2025
Meier-Gorlin syndrome 71Aug 19, 2025
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency1Aug 19, 2025
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency3Aug 19, 2025
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency2Aug 19, 2025
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1Aug 19, 2025
Metachromatic leukodystrophy33Aug 19, 2025
Metaphyseal anadysplasia 21Aug 19, 2025
Metaphyseal chondrodysplasia, Schmid type5Aug 19, 2025
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome1Aug 19, 2025
Methylcobalamin deficiency type cblE10Aug 19, 2025
Methylcobalamin deficiency type cblG8Aug 19, 2025
Methylmalonate semialdehyde dehydrogenase deficiency1Aug 19, 2025
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency2Aug 19, 2025
Methylmalonic acidemia due to transcobalamin receptor defect2Aug 19, 2025
Methylmalonic acidemia with homocystinuria, type cblJ6Aug 19, 2025
Methylmalonic acidemia with homocystinuria, type cblX23Aug 19, 2025
Methylmalonic aciduria and homocystinuria type cblD4Aug 19, 2025
Methylmalonic aciduria and homocystinuria type cblF7Aug 19, 2025
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency25Aug 19, 2025
Methylmalonic aciduria, cblA type11Aug 19, 2025
Methylmalonic aciduria, cblB type7Aug 19, 2025
Microcephalic osteodysplastic primordial dwarfism type II30Aug 19, 2025
Microcephalic primordial dwarfism due to RTTN deficiency14Aug 19, 2025
Microcephalic primordial dwarfism due to ZNF335 deficiency5Aug 19, 2025
Microcephalic primordial dwarfism, Alazami type7Aug 19, 2025
Microcephaly 1, primary, autosomal recessive13Aug 19, 2025
Microcephaly 13, primary, autosomal recessive1Aug 19, 2025
Microcephaly 15, primary, autosomal recessive1Aug 19, 2025
Microcephaly 17, primary, autosomal recessive8Aug 19, 2025
Microcephaly 18, primary, autosomal dominant13Aug 19, 2025
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations27Aug 19, 2025
Microcephaly 22, primary, autosomal recessive3Aug 19, 2025
Microcephaly 3, primary, autosomal recessive15Aug 19, 2025
Microcephaly 4, primary, autosomal recessive4Aug 19, 2025
Microcephaly 5, primary, autosomal recessive63Aug 19, 2025
Microcephaly 7, primary, autosomal recessive6Aug 19, 2025
Microcephaly 8, primary, autosomal recessive4Aug 19, 2025
Microcephaly and chorioretinopathy 113Aug 19, 2025
Microcephaly and chorioretinopathy 21Aug 19, 2025
Microcephaly and chorioretinopathy 31Aug 19, 2025
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability6Aug 19, 2025
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum1Aug 19, 2025
Microcephaly, epilepsy, and diabetes syndrome 13Aug 19, 2025
Microcephaly, epilepsy, and diabetes syndrome 21Aug 19, 2025
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1Aug 19, 2025
Microcephaly, short stature, and impaired glucose metabolism 11Aug 19, 2025
Microcephaly, short stature, and impaired glucose metabolism 22Aug 19, 2025
Microcephaly-capillary malformation syndrome3Aug 19, 2025
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2Aug 19, 2025
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome9Aug 19, 2025
Microcephaly-thin corpus callosum-intellectual disability syndrome3Aug 19, 2025
Microcornea-myopic chorioretinal atrophy3Aug 19, 2025
Microphthalmia with limb anomalies2Aug 19, 2025
Microphthalmia, isolated, with coloboma 94Aug 19, 2025
Microphthalmia, syndromic 111Aug 19, 2025
Microphthalmia, syndromic 121Aug 19, 2025
Microphthalmia, syndromic 91Aug 19, 2025
Miller syndrome3Aug 19, 2025
Mitochondrial DNA depletion syndrome 18Aug 19, 2025
Mitochondrial DNA depletion syndrome 113Aug 19, 2025
Mitochondrial DNA depletion syndrome 1315Aug 19, 2025
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1Aug 19, 2025
Mitochondrial DNA depletion syndrome 20 (mngie type)1Aug 19, 2025
Mitochondrial DNA depletion syndrome 95Aug 19, 2025
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria7Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 103Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 112Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 131Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 166Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 183Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 198Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 22Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 217Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 222Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 233Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 252Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 264Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 281Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 293Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 33Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 311Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 322Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 331Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 410Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 57Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 75Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 83Aug 19, 2025
Mitochondrial complex I deficiency, nuclear type 94Aug 19, 2025
Mitochondrial complex III deficiency nuclear type 22Aug 19, 2025
Mitochondrial complex III deficiency nuclear type 41Aug 19, 2025
Mitochondrial complex III deficiency nuclear type 53Aug 19, 2025
Mitochondrial complex III deficiency nuclear type 61Aug 19, 2025
Mitochondrial complex III deficiency nuclear type 83Aug 19, 2025
Mitochondrial complex IV deficiency, nuclear type 111Aug 19, 2025
Mitochondrial complex IV deficiency, nuclear type 121Aug 19, 2025
Mitochondrial complex IV deficiency, nuclear type 172Aug 19, 2025
Mitochondrial complex IV deficiency, nuclear type 221Aug 19, 2025
Mitochondrial complex IV deficiency, nuclear type 36Aug 19, 2025
Mitochondrial complex IV deficiency, nuclear type 43Aug 19, 2025
Mitochondrial complex IV deficiency, nuclear type 82Aug 19, 2025
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11Aug 19, 2025
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 23Aug 19, 2025
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 52Aug 19, 2025
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency4Aug 19, 2025
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome8Aug 19, 2025
Mitochondrial myopathy-lactic acidosis-deafness syndrome2Aug 19, 2025
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency13Aug 19, 2025
Mitochondrial trifunctional protein deficiency 26Aug 19, 2025
Monilethrix-11Aug 19, 2025
Mosaic variegated aneuploidy syndrome 21Aug 19, 2025
Mowat-Wilson syndrome14Aug 19, 2025
Moyamoya disease with early-onset achalasia1Aug 19, 2025
Mucolipidosis type IV4Aug 19, 2025
Mucopolysaccharidosis type 639Aug 19, 2025
Mucopolysaccharidosis type 725Aug 19, 2025
Mucopolysaccharidosis, MPS-II74Aug 19, 2025
Mucopolysaccharidosis, MPS-III-A14Aug 19, 2025
Mucopolysaccharidosis, MPS-III-D3Aug 19, 2025
Mucopolysaccharidosis, MPS-IV-A54Aug 19, 2025
Mucopolysaccharidosis-plus syndrome1Aug 19, 2025
Mulibrey nanism syndrome5Aug 19, 2025
Multicentric osteolysis, nodulosis, and arthropathy2Aug 19, 2025
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome4Aug 19, 2025
Multiple acyl-CoA dehydrogenase deficiency26Aug 19, 2025
Multiple congenital anomalies-hypotonia-seizures syndrome 116Aug 19, 2025
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked2Aug 19, 2025
Multiple endocrine neoplasia type 41Aug 19, 2025
Multiple endocrine neoplasia, type 110Aug 19, 2025
Multiple mitochondrial dysfunctions syndrome 11Aug 19, 2025
Multiple mitochondrial dysfunctions syndrome 24Aug 19, 2025
Multiple mitochondrial dysfunctions syndrome 42Aug 19, 2025
Multiple mitochondrial dysfunctions syndrome 51Aug 19, 2025
Multiple mitochondrial dysfunctions syndrome 62Aug 19, 2025
Multiple mitochondrial dysfunctions syndrome 71Aug 19, 2025
Multiple sulfatase deficiency8Aug 19, 2025
Muscle AMP deaminase deficiency56Aug 19, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A137Aug 19, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1012Aug 19, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1151Aug 19, 2025
Myasthenic syndrome, congenital, 2211Aug 19, 2025
Myasthenic syndrome, congenital, 24, presynaptic4Aug 19, 2025
Myeloperoxidase deficiency7Aug 19, 2025
Myoclonic dystonia 1145Aug 19, 2025
Myoclonic epilepsy of Lafora 113Aug 19, 2025
Myoclonus, familial, 11Aug 19, 2025
Myofibrillar myopathy 353Aug 19, 2025
Myofibrillar myopathy 712Aug 19, 2025
Myoglobinuria, acute recurrent, autosomal recessive6Aug 19, 2025
Myopathy due to calsequestrin and SERCA1 protein overload17Aug 19, 2025
Myopathy with abnormal lipid metabolism1Aug 19, 2025
Myopathy, centronuclear, 239Aug 19, 2025
Myopathy, centronuclear, 5107Aug 19, 2025
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies1Aug 19, 2025
Myopathy, distal, 519Aug 19, 2025
Myopathy, lactic acidosis, and sideroblastic anemia 11Aug 19, 2025
Myopathy, lactic acidosis, and sideroblastic anemia 22Aug 19, 2025
Myopathy, proximal, and ophthalmoplegia137Aug 19, 2025
Myopia 21, autosomal dominant2Aug 19, 2025
Myopia 24, autosomal dominant1Aug 19, 2025
Myopia 25, autosomal dominant2Aug 19, 2025
Myopia 271Aug 19, 2025
Myopia, high, with cataract and vitreoretinal degeneration1Aug 19, 2025
Myotonic dystrophy type 21Aug 19, 2025
NAD(P)HX dehydratase deficiency3Aug 19, 2025
Nager syndrome2Aug 19, 2025
Nemaline myopathy 1014Aug 19, 2025
Nemaline myopathy 625Aug 19, 2025
Nemaline myopathy 76Aug 19, 2025
Nemaline myopathy 820Aug 19, 2025
Nemaline myopathy 913Aug 19, 2025
Neonatal diabetes mellitus with congenital hypothyroidism4Aug 19, 2025
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome3Aug 19, 2025
Neonatal ichthyosis-sclerosing cholangitis syndrome1Aug 19, 2025
Nephronophthisis 149Aug 19, 2025
Nephronophthisis 154Aug 19, 2025
Nephronophthisis 163Aug 19, 2025
Nephronophthisis 71Aug 19, 2025
Nephrotic syndrome 144Aug 19, 2025
Nephrotic syndrome 152Aug 19, 2025
Nephrotic syndrome, type 101Aug 19, 2025
Nephrotic syndrome, type 121Aug 19, 2025
Nephrotic syndrome, type 134Aug 19, 2025
Nephrotic syndrome, type 191Aug 19, 2025
Nephrotic syndrome, type 214Aug 19, 2025
Nephrotic syndrome, type 203Aug 19, 2025
Nephrotic syndrome, type 215Aug 19, 2025
Nephrotic syndrome, type 241Aug 19, 2025
Nephrotic syndrome, type 34Aug 19, 2025
Nephrotic syndrome, type 62Aug 19, 2025
Nephrotic syndrome, type 95Aug 19, 2025
Netherton syndrome5Aug 19, 2025
Neural tube defects, susceptibility to2Aug 19, 2025
Neurodegeneration with brain iron accumulation 58Aug 19, 2025
Neurodegeneration with brain iron accumulation 82Aug 19, 2025
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Aug 19, 2025
Neurodegeneration, childhood-onset, with cerebellar atrophy8Aug 19, 2025
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities5Aug 19, 2025
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity17Aug 19, 2025
Neurodevelopmental disorder with absent language and variable seizures1Aug 19, 2025
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1Aug 19, 2025
Neurodevelopmental disorder with central and peripheral motor dysfunction8Aug 19, 2025
Neurodevelopmental disorder with central hypotonia and dysmorphic facies8Aug 19, 2025
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction6Aug 19, 2025
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism2Aug 19, 2025
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities34Aug 19, 2025
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects1Aug 19, 2025
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia2Aug 19, 2025
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies16Aug 19, 2025
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies8Aug 19, 2025
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities1Aug 19, 2025
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum3Aug 19, 2025
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities2Aug 19, 2025
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum3Aug 19, 2025
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination7Aug 19, 2025
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy3Aug 19, 2025
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements1Aug 19, 2025
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities9Aug 19, 2025
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1Aug 19, 2025
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures5Aug 19, 2025
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation1Aug 19, 2025
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness8Aug 19, 2025
Neurodevelopmental disorder with hypotonia, seizures, and absent language20Aug 19, 2025
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language8Aug 19, 2025
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1Aug 19, 2025
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies1Aug 19, 2025
Neurodevelopmental disorder with impaired speech and hyperkinetic movements5Aug 19, 2025
Neurodevelopmental disorder with infantile epileptic spasms7Aug 19, 2025
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures1Aug 19, 2025
Neurodevelopmental disorder with language delay and variable cognitive abnormalities1Aug 19, 2025
Neurodevelopmental disorder with language impairment and behavioral abnormalities3Aug 19, 2025
Neurodevelopmental disorder with microcephaly and structural brain anomalies3Aug 19, 2025
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies4Aug 19, 2025
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities8Aug 19, 2025
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment2Aug 19, 2025
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity1Aug 19, 2025
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Aug 19, 2025
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy1Aug 19, 2025
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Aug 19, 2025
Neurodevelopmental disorder with midbrain and hindbrain malformations1Aug 19, 2025
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities10Aug 19, 2025
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures13Aug 19, 2025
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart35Aug 19, 2025
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities3Aug 19, 2025
Neurodevelopmental disorder with or without early-onset generalized epilepsy39Aug 19, 2025
Neurodevelopmental disorder with or without seizures and gait abnormalities8Aug 19, 2025
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA17Aug 19, 2025
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies4Aug 19, 2025
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures11Aug 19, 2025
Neurodevelopmental disorder with seizures and gingival overgrowth1Aug 19, 2025
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements19Aug 19, 2025
Neurodevelopmental disorder with seizures and speech and walking impairment1Aug 19, 2025
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities2Aug 19, 2025
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities1Aug 19, 2025
Neurodevelopmental disorder with severe motor impairment and absent language11Aug 19, 2025
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties3Aug 19, 2025
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1Aug 19, 2025
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities1Aug 19, 2025
Neurodevelopmental disorder with speech delay and variable ocular anomalies1Aug 19, 2025
Neurodevelopmental disorder with speech impairment and with or without seizures9Aug 19, 2025
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Aug 19, 2025
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus2Aug 19, 2025
Neurodevelopmental, jaw, eye, and digital syndrome4Aug 19, 2025
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities2Aug 19, 2025
Neurofibromatosis, type 210Aug 19, 2025
Neurohypophyseal diabetes insipidus2Aug 19, 2025
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11Aug 19, 2025
Neuromuscular disease and ocular or auditory anomalies with or without seizures10Aug 19, 2025
Neuronal ceroid lipofuscinosis 18Aug 19, 2025
Neuronal ceroid lipofuscinosis 106Aug 19, 2025
Neuronal ceroid lipofuscinosis 136Aug 19, 2025
Neuronal ceroid lipofuscinosis 35Aug 19, 2025
Neuronal ceroid lipofuscinosis 514Aug 19, 2025
Neuronopathy, distal hereditary motor, autosomal recessive 53Aug 19, 2025
Neuronopathy, distal hereditary motor, autosomal recessive 84Aug 19, 2025
Neuronopathy, distal hereditary motor, type 2C1Aug 19, 2025
Neuronopathy, distal hereditary motor, type 2D7Aug 19, 2025
Neuroocular syndrome 15Aug 19, 2025
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy1Aug 19, 2025
Neuropathy, hereditary sensory and autonomic, type 1C3Aug 19, 2025
Neuropathy, hereditary sensory and autonomic, type 2B1Aug 19, 2025
Neuropathy, hereditary sensory, type 1F2Aug 19, 2025
Neutral 1 amino acid transport defect3Aug 19, 2025
Neutral lipid storage myopathy73Aug 19, 2025
Niemann-Pick disease, type C141Aug 19, 2025
Niemann-Pick disease, type C27Aug 19, 2025
Nijmegen breakage syndrome-like disorder35Aug 19, 2025
Nizon-Isidor syndrome15Aug 19, 2025
Non-acquired combined pituitary hormone deficiency with spine abnormalities2Aug 19, 2025
Nonpersistence of intestinal lactase3Aug 19, 2025
Nonsyndromic congenital nail disorder 42Aug 19, 2025
Noonan syndrome 121Aug 19, 2025
Noonan syndrome 62Aug 19, 2025
Noonan syndrome 89Aug 19, 2025
Noonan syndrome 920Aug 19, 2025
Noonan syndrome-like disorder with loose anagen hair 13Aug 19, 2025
Norman-Roberts syndrome23Aug 19, 2025
Nystagmus 1, congenital, X-linked2Aug 19, 2025
O'Donnell-Luria-Rodan syndrome12Aug 19, 2025
Obesity due to leptin receptor gene deficiency2Aug 19, 2025
Obesity due to prohormone convertase I deficiency1Aug 19, 2025
Occipital pachygyria and polymicrogyria8Aug 19, 2025
Oculoauricular syndrome1Aug 19, 2025
Oculocerebrofacial syndrome, Kaufman type4Aug 19, 2025
Oculocutaneous albinism type 81Aug 19, 2025
Oculofaciocardiodental syndrome11Aug 19, 2025
Oculopharyngeal muscular dystrophy 124Aug 19, 2025
Oculopharyngodistal myopathy 41Aug 19, 2025
Okur-Chung neurodevelopmental syndrome8Aug 19, 2025
Oligodontia-cancer predisposition syndrome8Aug 19, 2025
Oocyte maturation defect 131Aug 19, 2025
Oocyte maturation defect 31Aug 19, 2025
Oocyte maturation defect 42Aug 19, 2025
Oocyte/zygote/embryo maturation arrest 161Aug 19, 2025
Oocyte/zygote/embryo maturation arrest 172Aug 19, 2025
Oocyte/zygote/embryo maturation arrest 181Aug 19, 2025
Oocyte/zygote/embryo maturation arrest 201Aug 19, 2025
Opsismodysplasia7Aug 19, 2025
Ornithine aminotransferase deficiency6Aug 19, 2025
Ornithine carbamoyltransferase deficiency47Aug 19, 2025
Orofaciodigital syndrome V1Aug 19, 2025
Orofaciodigital syndrome type 146Aug 19, 2025
Orthostatic hypotension 13Aug 19, 2025
Osteogenesis imperfecta type 102Aug 19, 2025
Osteogenesis imperfecta type 123Aug 19, 2025
Osteogenesis imperfecta type 132Aug 19, 2025
Osteogenesis imperfecta type 141Aug 19, 2025
Osteogenesis imperfecta type 153Aug 19, 2025
Osteogenesis imperfecta type 163Aug 19, 2025
Osteogenesis imperfecta type 63Aug 19, 2025
Osteogenesis imperfecta type 74Aug 19, 2025
Osteogenesis imperfecta type 86Aug 19, 2025
Osteogenesis imperfecta, type 181Aug 19, 2025
Osteogenesis imperfecta, type 211Aug 19, 2025
Osteopathia striata with cranial sclerosis10Aug 19, 2025
Osteopetrosis with renal tubular acidosis1Aug 19, 2025
Osteosclerotic metaphyseal dysplasia2Aug 19, 2025
Otofaciocervical syndrome 24Aug 19, 2025
Ovarian dysgenesis 22Aug 19, 2025
Oxoglutaricaciduria1Aug 19, 2025
PEHO-like syndrome2Aug 19, 2025
PGM1-congenital disorder of glycosylation6Aug 19, 2025
PHARC syndrome4Aug 19, 2025
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome16Aug 19, 2025
PLIN1-related familial partial lipodystrophy1Aug 19, 2025
PMM2-congenital disorder of glycosylation16Aug 19, 2025
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome7Aug 19, 2025
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures4Aug 19, 2025
Pachyonychia congenita 31Aug 19, 2025
Paget disease of bone 61Aug 19, 2025
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3Aug 19, 2025
Palmoplantar keratoderma, Nagashima type3Aug 19, 2025
Palmoplantar keratoderma, punctate type 1A3Aug 19, 2025
Pancreatic insufficiency-anemia-hyperostosis syndrome2Aug 19, 2025
Pancreatic triacylglycerol lipase deficiency1Aug 19, 2025
Pancytopenia due to IKZF1 mutations3Aug 19, 2025
Pancytopenia-developmental delay syndrome2Aug 19, 2025
Parenti-mignot neurodevelopmental syndrome4Aug 19, 2025
Parkinson disease 22, autosomal dominant1Aug 19, 2025
Parkinsonian-pyramidal syndrome3Aug 19, 2025
Paroxysmal nonkinesigenic dyskinesia 15Aug 19, 2025
Patent ductus arteriosus 31Aug 19, 2025
Peeling skin syndrome 41Aug 19, 2025
Peeling skin syndrome 51Aug 19, 2025
Pelviscapular dysplasia1Aug 19, 2025
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development7Aug 19, 2025
Periventricular heterotopia with microcephaly, autosomal recessive9Aug 19, 2025
Periventricular nodular heterotopia 74Aug 19, 2025
Periventricular nodular heterotopia 81Aug 19, 2025
Perlman syndrome12Aug 19, 2025
Peroxisome biogenesis disorder 12A (Zellweger)4Aug 19, 2025
Peroxisome biogenesis disorder 13A (Zellweger)1Aug 19, 2025
Perrault syndrome 21Aug 19, 2025
Persistent Mullerian duct syndrome2Aug 19, 2025
Peters plus syndrome2Aug 19, 2025
Peutz-Jeghers syndrome5Aug 19, 2025
Phelan-McDermid syndrome12Aug 19, 2025
Phenylketonuria80Aug 19, 2025
Pheochromocytoma/paraganglioma syndrome 22Aug 19, 2025
Pheochromocytoma/paraganglioma syndrome 71Aug 19, 2025
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2Aug 19, 2025
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial2Aug 19, 2025
Phytanic acid storage disease3Aug 19, 2025
Pigmentary retinal dystrophy4Aug 19, 2025
Pigmented nodular adrenocortical disease, primary, 210Aug 19, 2025
Pilarowski-Bjornsson syndrome17Aug 19, 2025
Pitt-Hopkins-like syndrome 217Aug 19, 2025
Pituitary hormone deficiency, combined, 12Aug 19, 2025
Pituitary hormone deficiency, combined, 26Aug 19, 2025
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1Aug 19, 2025
Platelet-type bleeding disorder 1021Aug 19, 2025
Platelet-type bleeding disorder 111Aug 19, 2025
Platelet-type bleeding disorder 152Aug 19, 2025
Platelet-type bleeding disorder 172Aug 19, 2025
Platelet-type bleeding disorder 181Aug 19, 2025
Platelet-type bleeding disorder 201Aug 19, 2025
Platelet-type bleeding disorder 81Aug 19, 2025
Poirier-Bienvenu neurodevelopmental syndrome2Aug 19, 2025
Polycystic kidney disease 24Aug 19, 2025
Polycystic kidney disease 3 with or without polycystic liver disease3Aug 19, 2025
Polycystic kidney disease 493Aug 19, 2025
Polycystic kidney disease 6 with or without polycystic liver disease2Aug 19, 2025
Polycystic kidney disease, adult type16Aug 19, 2025
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 23Aug 19, 2025
Polycystic liver disease 11Aug 19, 2025
Polycystic liver disease 22Aug 19, 2025
Polyglandular autoimmune syndrome, type 116Aug 19, 2025
Polyglucosan body myopathy type 110Aug 19, 2025
Polyhydramnios, megalencephaly, and symptomatic epilepsy1Aug 19, 2025
Pontocerebellar hypoplasia type 101Aug 19, 2025
Pontocerebellar hypoplasia type 1B5Aug 19, 2025
Pontocerebellar hypoplasia type 2B3Aug 19, 2025
Pontocerebellar hypoplasia type 2D8Aug 19, 2025
Pontocerebellar hypoplasia type 37Aug 19, 2025
Pontocerebellar hypoplasia type 619Aug 19, 2025
Pontocerebellar hypoplasia type 73Aug 19, 2025
Pontocerebellar hypoplasia type 81Aug 19, 2025
Pontocerebellar hypoplasia, type 117Aug 19, 2025
Pontocerebellar hypoplasia, type 1C2Aug 19, 2025
Pontocerebellar hypoplasia, type 1D2Aug 19, 2025
Porencephaly-microcephaly-bilateral congenital cataract syndrome2Aug 19, 2025
Porokeratosis 1, Mibelli type2Aug 19, 2025
Porokeratosis 7, multiple types1Aug 19, 2025
Porphobilinogen synthase deficiency2Aug 19, 2025
Posterior column ataxia-retinitis pigmentosa syndrome5Aug 19, 2025
Posterior polymorphous corneal dystrophy 11Aug 19, 2025
Precocious puberty, central, 21Aug 19, 2025
Preimplantation embryonic lethality 11Aug 19, 2025
Premature ovarian failure 102Aug 19, 2025
Premature ovarian failure 141Aug 19, 2025
Premature ovarian failure 2B1Aug 19, 2025
Premature ovarian failure 51Aug 19, 2025
Premature ovarian failure 61Aug 19, 2025
Premature ovarian failure 91Aug 19, 2025
Primary ciliary dyskinesia 105Aug 19, 2025
Primary ciliary dyskinesia 115Aug 19, 2025
Primary ciliary dyskinesia 122Aug 19, 2025
Primary ciliary dyskinesia 134Aug 19, 2025
Primary ciliary dyskinesia 149Aug 19, 2025
Primary ciliary dyskinesia 1515Aug 19, 2025
Primary ciliary dyskinesia 172Aug 19, 2025
Primary ciliary dyskinesia 183Aug 19, 2025
Primary ciliary dyskinesia 193Aug 19, 2025
Primary ciliary dyskinesia 28Aug 19, 2025
Primary ciliary dyskinesia 204Aug 19, 2025
Primary ciliary dyskinesia 223Aug 19, 2025
Primary ciliary dyskinesia 233Aug 19, 2025
Primary ciliary dyskinesia 243Aug 19, 2025
Primary ciliary dyskinesia 255Aug 19, 2025
Primary ciliary dyskinesia 262Aug 19, 2025
Primary ciliary dyskinesia 272Aug 19, 2025
Primary ciliary dyskinesia 288Aug 19, 2025
Primary ciliary dyskinesia 292Aug 19, 2025
Primary ciliary dyskinesia 348Aug 19, 2025
Primary ciliary dyskinesia 304Aug 19, 2025
Primary ciliary dyskinesia 331Aug 19, 2025
Primary ciliary dyskinesia 342Aug 19, 2025
Primary ciliary dyskinesia 352Aug 19, 2025
Primary ciliary dyskinesia 53Aug 19, 2025
Primary ciliary dyskinesia 61Aug 19, 2025
Primary ciliary dyskinesia 744Aug 19, 2025
Primary ciliary dyskinesia 95Aug 19, 2025
Primary hyperoxaluria, type I26Aug 19, 2025
Primary hyperoxaluria, type II9Aug 19, 2025
Primary hypomagnesemia4Aug 19, 2025
Primary immunodeficiency syndrome due to p14 deficiency1Aug 19, 2025
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1Aug 19, 2025
Primrose syndrome2Aug 19, 2025
Progressive encephalopathy with leukodystrophy due to DECR deficiency2Aug 19, 2025
Progressive myoclonic epilepsy type 35Aug 19, 2025
Progressive myoclonic epilepsy type 75Aug 19, 2025
Progressive myoclonic epilepsy type 81Aug 19, 2025
Progressive myositis ossificans2Aug 19, 2025
Progressive pseudorheumatoid dysplasia3Aug 19, 2025
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1Aug 19, 2025
Prolidase deficiency4Aug 19, 2025
Proliferative vitreoretinopathy2Aug 19, 2025
Proline dehydrogenase deficiency10Aug 19, 2025
Propionic acidemia49Aug 19, 2025
Prostate cancer, hereditary, 12Aug 19, 2025
Proteasome-associated autoinflammatory syndrome 13Aug 19, 2025
Proteasome-associated autoinflammatory syndrome 31Aug 19, 2025
Proteasome-associated autoinflammatory syndrome 42Aug 19, 2025
Proteasome-associated autoinflammatory syndrome 52Aug 19, 2025
Protoporphyria, erythropoietic, 12Aug 19, 2025
Proximal myopathy with extrapyramidal signs2Aug 19, 2025
Pseudo-TORCH syndrome 18Aug 19, 2025
Pseudo-TORCH syndrome 21Aug 19, 2025
Pseudohypoaldosteronism type 2B3Aug 19, 2025
Pseudohypoaldosteronism type 2D2Aug 19, 2025
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1Aug 19, 2025
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2Aug 19, 2025
Ptosis, hereditary congenital, 11Aug 19, 2025
Pulmonary alveolar proteinosis with hypogammaglobulinemia1Aug 19, 2025
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 61Aug 19, 2025
Pulmonary hypertension, primary, 24Aug 19, 2025
Pulmonary hypertension, primary, 51Aug 19, 2025
Purine-nucleoside phosphorylase deficiency3Aug 19, 2025
Pyknodysostosis3Aug 19, 2025
Pyle metaphyseal dysplasia1Aug 19, 2025
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2Aug 19, 2025
Pyogenic bacterial infections due to MyD88 deficiency1Aug 19, 2025
Pyridoxal phosphate-responsive seizures4Aug 19, 2025
Pyridoxine-dependent epilepsy29Aug 19, 2025
Pyruvate carboxylase deficiency12Aug 19, 2025
Pyruvate dehydrogenase E1-alpha deficiency16Aug 19, 2025
Pyruvate dehydrogenase E1-beta deficiency1Aug 19, 2025
Pyruvate dehydrogenase E2 deficiency4Aug 19, 2025
Pyruvate dehydrogenase E3 deficiency10Aug 19, 2025
Pyruvate dehydrogenase E3-binding protein deficiency9Aug 19, 2025
Pyruvate dehydrogenase phosphatase deficiency1Aug 19, 2025
Quebec platelet disorder2Aug 19, 2025
RAB23-related Carpenter syndrome3Aug 19, 2025
RECON progeroid syndrome3Aug 19, 2025
RFT1-congenital disorder of glycosylation4Aug 19, 2025
RIDDLE syndrome3Aug 19, 2025
RIN2 syndrome4Aug 19, 2025
Radio-Tartaglia syndrome23Aug 19, 2025
Radioulnar synostosis with amegakaryocytic thrombocytopenia 22Aug 19, 2025
Rafiq syndrome5Aug 19, 2025
Rahman syndrome1Aug 19, 2025
Rauch-Steindl syndrome4Aug 19, 2025
Recurrent Neisseria infections due to factor D deficiency1Aug 19, 2025
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Aug 19, 2025
Renal carnitine transport defect37Aug 19, 2025
Renal hypodysplasia/aplasia 13Aug 19, 2025
Renal hypomagnesemia 21Aug 19, 2025
Renal tubular acidosis with progressive nerve deafness9Aug 19, 2025
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss9Aug 19, 2025
Renpenning syndrome4Aug 19, 2025
Reticular dysgenesis1Aug 19, 2025
Reticulate acropigmentation of Kitamura2Aug 19, 2025
Retinal cone dystrophy 44Aug 19, 2025
Retinal dystrophy with leukodystrophy2Aug 19, 2025
Retinitis pigmentosa 117Aug 19, 2025
Retinitis pigmentosa 112Aug 19, 2025
Retinitis pigmentosa 133Aug 19, 2025
Retinitis pigmentosa 181Aug 19, 2025
Retinitis pigmentosa 21Aug 19, 2025
Retinitis pigmentosa 2549Aug 19, 2025
Retinitis pigmentosa 267Aug 19, 2025
Retinitis pigmentosa 271Aug 19, 2025
Retinitis pigmentosa 2810Aug 19, 2025
Retinitis pigmentosa 333Aug 19, 2025
Retinitis pigmentosa 385Aug 19, 2025
Retinitis pigmentosa 437Aug 19, 2025
Retinitis pigmentosa 456Aug 19, 2025
Retinitis pigmentosa 461Aug 19, 2025
Retinitis pigmentosa 493Aug 19, 2025
Retinitis pigmentosa 544Aug 19, 2025
Retinitis pigmentosa 623Aug 19, 2025
Retinitis pigmentosa 683Aug 19, 2025
Retinitis pigmentosa 692Aug 19, 2025
Retinitis pigmentosa 73Aug 19, 2025
Retinitis pigmentosa 751Aug 19, 2025
Retinitis pigmentosa 782Aug 19, 2025
Retinitis pigmentosa 841Aug 19, 2025
Retinitis pigmentosa 891Aug 19, 2025
Retinitis pigmentosa 901Aug 19, 2025
Retinoblastoma8Aug 19, 2025
Rhizomelic chondrodysplasia punctata type 22Aug 19, 2025
Ritscher-Schinzel syndrome 212Aug 19, 2025
Ritscher-Schinzel syndrome 42Aug 19, 2025
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1Aug 19, 2025
Rothmund-Thomson syndrome type 12Aug 19, 2025
Rotor syndrome37Aug 19, 2025
SCOTT SYNDROME4Aug 19, 2025
SIN3A-related intellectual disability syndrome due to a point mutation14Aug 19, 2025
SLC35A2-congenital disorder of glycosylation2Aug 19, 2025
SLC39A8-CDG4Aug 19, 2025
SSR4-congenital disorder of glycosylation1Aug 19, 2025
STING-associated vasculopathy with onset in infancy2Aug 19, 2025
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome1Aug 19, 2025
Sandestig-stefanova syndrome3Aug 19, 2025
Sandhoff disease11Aug 19, 2025
Sarcosine dehydrogenase deficiency1Aug 19, 2025
Scalp-ear-nipple syndrome1Aug 19, 2025
Schaaf-Yang syndrome39Aug 19, 2025
Schimke immuno-osseous dysplasia10Aug 19, 2025
Schneckenbecken dysplasia1Aug 19, 2025
Schnyder crystalline corneal dystrophy1Aug 19, 2025
Schuurs-Hoeijmakers syndrome10Aug 19, 2025
Seckel syndrome 101Aug 19, 2025
Seckel syndrome 72Aug 19, 2025
Seckel syndrome 93Aug 19, 2025
Seizures, benign familial neonatal, 29Aug 19, 2025
Seizures, early-onset, with neurodegeneration and brain calcifications2Aug 19, 2025
Senior-Loken syndrome 52Aug 19, 2025
Senior-Loken syndrome 95Aug 19, 2025
Septo-optic dysplasia sequence4Aug 19, 2025
Sessile serrated polyposis cancer syndrome4Aug 19, 2025
Severe combined immunodeficiency due to CARMIL2 deficiency6Aug 19, 2025
Severe combined immunodeficiency due to CORO1A deficiency2Aug 19, 2025
Severe combined immunodeficiency due to DNA-PKcs deficiency5Aug 19, 2025
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency17Aug 19, 2025
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome42Aug 19, 2025
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome3Aug 19, 2025
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome1Aug 19, 2025
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome7Aug 19, 2025
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome1Aug 19, 2025
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome2Aug 19, 2025
Shashi-Pena syndrome14Aug 19, 2025
Short stature due to growth hormone secretagogue receptor deficiency3Aug 19, 2025
Short stature due to primary acid-labile subunit deficiency2Aug 19, 2025
Short stature, Dauber-Argente type1Aug 19, 2025
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis1Aug 19, 2025
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies2Aug 19, 2025
Short stature, microcephaly, and endocrine dysfunction1Aug 19, 2025
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3Aug 19, 2025
Short stature-brachydactyly-obesity-global developmental delay syndrome4Aug 19, 2025
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1Aug 19, 2025
Short stature-pituitary and cerebellar defects-small sella turcica syndrome5Aug 19, 2025
Short-rib thoracic dysplasia 11 with or without polydactyly7Aug 19, 2025
Short-rib thoracic dysplasia 15 with polydactyly2Aug 19, 2025
Short-rib thoracic dysplasia 17 with or without polydactyly1Aug 19, 2025
Short-rib thoracic dysplasia 19 with or without polydactyly3Aug 19, 2025
Short-rib thoracic dysplasia 6 with or without polydactyly8Aug 19, 2025
Short-rib thoracic dysplasia 8 with or without polydactyly3Aug 19, 2025
Shprintzen-Goldberg syndrome11Aug 19, 2025
Shukla-Vernon syndrome14Aug 19, 2025
Shwachman-Diamond syndrome 14Aug 19, 2025
Sialidosis type 23Aug 19, 2025
Siddiqi syndrome1Aug 19, 2025
Sifrim-Hitz-Weiss syndrome9Aug 19, 2025
Silver-Russell syndrome 31Aug 19, 2025
Simpson-Golabi-Behmel syndrome type 16Aug 19, 2025
Singleton-Merten syndrome 21Aug 19, 2025
Sitosterolemia 1105Aug 19, 2025
Sitosterolemia 285Aug 19, 2025
Sjögren-Larsson syndrome7Aug 19, 2025
Skraban-Deardorff syndrome3Aug 19, 2025
Smith-Lemli-Opitz syndrome25Aug 19, 2025
Smith-Magenis syndrome11Aug 19, 2025
Smith-McCort dysplasia 22Aug 19, 2025
Snijders Blok-Campeau syndrome18Aug 19, 2025
Snijders blok-fisher syndrome5Aug 19, 2025
Somatotroph adenoma2Aug 19, 2025
Sotos syndrome26Aug 19, 2025
Spastic ataxia 21Aug 19, 2025
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy3Aug 19, 2025
Spastic paraplegia 80, autosomal dominant7Aug 19, 2025
Spastic paraplegia 82, autosomal recessive1Aug 19, 2025
Spastic paraplegia-severe developmental delay-epilepsy syndrome5Aug 19, 2025
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome6Aug 19, 2025
Specific granule deficiency 21Aug 19, 2025
Spermatogenic failure 111Aug 19, 2025
Spermatogenic failure 141Aug 19, 2025
Spermatogenic failure 162Aug 19, 2025
Spermatogenic failure 171Aug 19, 2025
Spermatogenic failure 201Aug 19, 2025
Spermatogenic failure 252Aug 19, 2025
Spermatogenic failure 312Aug 19, 2025
Spermatogenic failure 341Aug 19, 2025
Spermatogenic failure 393Aug 19, 2025
Spermatogenic failure 41Aug 19, 2025
Spermatogenic failure 468Aug 19, 2025
Spermatogenic failure 482Aug 19, 2025
Spermatogenic failure 492Aug 19, 2025
Spermatogenic failure 656Aug 19, 2025
Spermatogenic failure 91Aug 19, 2025
Spermatogenic failure, X-linked, 31Aug 19, 2025
Spermatogenic failure, Y-linked, 22Aug 19, 2025
Spinocerebellar ataxia 455Aug 19, 2025
Spinocerebellar ataxia 471Jan 26, 2024
Spinocerebellar ataxia type 12Aug 19, 2025
Spinocerebellar ataxia type 113Aug 19, 2025
Spinocerebellar ataxia type 138Aug 19, 2025
Spinocerebellar ataxia type 141Aug 19, 2025
Spinocerebellar ataxia type 21Aug 19, 2025
Spinocerebellar ataxia type 213Aug 19, 2025
Spinocerebellar ataxia type 231Aug 19, 2025
Spinocerebellar ataxia type 261Aug 19, 2025
Spinocerebellar ataxia type 359Aug 19, 2025
Spinocerebellar ataxia type 373Aug 19, 2025
Spinocerebellar ataxia type 382Aug 19, 2025
Spinocerebellar ataxia type 411Aug 19, 2025
Spinocerebellar ataxia, autosomal recessive 232Aug 19, 2025
Spinocerebellar ataxia, autosomal recessive 262Aug 19, 2025
Spinocerebellar ataxia, autosomal recessive 282Aug 19, 2025
Spinocerebellar ataxia, autosomal recessive 291Aug 19, 2025
Sponastrime dysplasia3Aug 19, 2025
Spondylocostal dysostosis 1, autosomal recessive5Aug 19, 2025
Spondylocostal dysostosis 2, autosomal recessive1Aug 19, 2025
Spondylocostal dysostosis 3, autosomal recessive1Aug 19, 2025
Spondylocostal dysostosis 53Aug 19, 2025
Spondyloenchondrodysplasia with immune dysregulation3Aug 19, 2025
Spondyloepimetaphyseal dysplasia with joint laxity, type 32Aug 19, 2025
Spondyloepimetaphyseal dysplasia with multiple dislocations4Aug 19, 2025
Spondyloepimetaphyseal dysplasia, Genevieve type1Aug 19, 2025
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type1Aug 19, 2025
Spondyloepimetaphyseal dysplasia, PAPSS2 type1Aug 19, 2025
Spondyloepiphyseal dysplasia tarda, X-linked1Aug 19, 2025
Spondylometaphyseal dysplasia with corneal dystrophy1Aug 19, 2025
Spongy degeneration of central nervous system10Aug 19, 2025
Stankiewicz-Isidor syndrome5Aug 19, 2025
Steel syndrome7Aug 19, 2025
Steinert myotonic dystrophy syndrome7Aug 19, 2025
Striatonigral degeneration, childhood-onset3Aug 19, 2025
Stromme syndrome6Aug 19, 2025
Structural heart defects and renal anomalies syndrome7Aug 19, 2025
Stüve-Wiedemann syndrome 18Aug 19, 2025
Subcutaneous panniculitis-like T-cell lymphoma2Aug 19, 2025
Succinate-semialdehyde dehydrogenase deficiency11Aug 19, 2025
Succinyl-CoA acetoacetate transferase deficiency9Aug 19, 2025
Sucrase-isomaltase deficiency10Aug 19, 2025
Suleiman-El-Hattab syndrome1Aug 19, 2025
Sulfide quinone oxidoreductase deficiency1Aug 19, 2025
Sulfite oxidase deficiency3Aug 19, 2025
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A7Aug 19, 2025
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B12Aug 19, 2025
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C2Aug 19, 2025
Surfactant metabolism dysfunction, pulmonary, 13Aug 19, 2025
Surfactant metabolism dysfunction, pulmonary, 24Aug 19, 2025
Surfactant metabolism dysfunction, pulmonary, 52Aug 19, 2025
Syndromic X-linked intellectual disability 147Aug 19, 2025
Syndromic X-linked intellectual disability 341Aug 19, 2025
Syndromic X-linked intellectual disability 946Aug 19, 2025
Syndromic X-linked intellectual disability Claes-Jensen type8Aug 19, 2025
Syndromic X-linked intellectual disability Shashi type1Aug 19, 2025
Syndromic X-linked intellectual disability Siderius type4Aug 19, 2025
Syndromic X-linked intellectual disability Snyder type4Aug 19, 2025
Syndromic multisystem autoimmune disease due to ITCH deficiency3Aug 19, 2025
Synpolydactyly type 21Aug 19, 2025
T-B+ severe combined immunodeficiency due to JAK3 deficiency6Aug 19, 2025
TARP syndrome4Aug 19, 2025
TELO2-related intellectual disability-neurodevelopmental disorder4Aug 19, 2025
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome3Aug 19, 2025
TMEM165-congenital disorder of glycosylation1Aug 19, 2025
TNF receptor-associated periodic fever syndrome (TRAPS)2Aug 19, 2025
Tay-Sachs disease19Aug 19, 2025
Tay-Sachs disease, variant AB1Aug 19, 2025
Telangiectasia, hereditary hemorrhagic, type 15Aug 19, 2025
Telangiectasia, hereditary hemorrhagic, type 27Aug 19, 2025
Telangiectasia, hereditary hemorrhagic, type 54Aug 19, 2025
Temtamy preaxial brachydactyly syndrome2Aug 19, 2025
Temtamy syndrome3Aug 19, 2025
Tenorio syndrome1Aug 19, 2025
Tessadori-Van Haaften neurodevelopmental syndrome 32Aug 19, 2025
Tessadori-van Haaften neurodevelopmental syndrome 12Aug 19, 2025
Tessadori-van Haaften neurodevelopmental syndrome 21Aug 19, 2025
Testosterone 17-beta-dehydrogenase deficiency10Aug 19, 2025
Thrombocythemia 33Aug 19, 2025
Thrombocytopenia 31Aug 19, 2025
Thrombocytopenia 41Aug 19, 2025
Thrombocytopenia 54Aug 19, 2025
Thrombomodulin-related bleeding disorder2Aug 19, 2025
Thyroglobulin synthesis defect2Aug 19, 2025
Thyroid dyshormonogenesis 11Aug 19, 2025
Thyroid dyshormonogenesis 634Aug 19, 2025
Thyroid hormone metabolism, abnormal 12Aug 19, 2025
Thyroxine-binding globulin quantitative trait locus1Aug 19, 2025
Tolchin-Le Caignec syndrome3Aug 19, 2025
Tooth agenesis, selective, 74Aug 19, 2025
Townes-Brocks syndrome 18Aug 19, 2025
Townes-Brocks syndrome 21Aug 19, 2025
Transcobalamin II deficiency3Aug 19, 2025
Transient infantile hypertriglyceridemia and hepatosteatosis1Aug 19, 2025
Transketolase deficiency1Aug 19, 2025
Treacher Collins syndrome 19Aug 19, 2025
Tremor, hereditary essential, 58Aug 19, 2025
Trichohepatoenteric syndrome 111Aug 19, 2025
Trichohepatoenteric syndrome 22Aug 19, 2025
Trichothiodystrophy 4, nonphotosensitive1Aug 19, 2025
Triglyceride storage disease with ichthyosis2Aug 19, 2025
Trimethylaminuria2Aug 19, 2025
Triosephosphate isomerase deficiency23Aug 19, 2025
Troyer syndrome7Aug 19, 2025
Tuberous sclerosis 259Aug 19, 2025
Tubulointerstitial kidney disease, autosomal dominant, 21Aug 19, 2025
Turnpenny-fry syndrome1Aug 19, 2025
Type I complement component 8 deficiency1Aug 19, 2025
Type II complement component 8 deficiency3Aug 19, 2025
Tyrosinemia type I11Aug 19, 2025
Tyrosinemia type II3Aug 19, 2025
UDPglucose-4-epimerase deficiency3Aug 19, 2025
Ulnar-mammary syndrome3Aug 19, 2025
Uncombable hair syndrome 31Aug 19, 2025
Unverricht-Lundborg syndrome4Aug 19, 2025
Upshaw-Schulman syndrome9Aug 19, 2025
Urofacial syndrome type 12Aug 19, 2025
Usher syndrome type 1G1Aug 19, 2025
VISS syndrome1Aug 19, 2025
VPS13A-related neurodegenerative disease23Aug 19, 2025
Van den Ende-Gupta syndrome2Aug 19, 2025
Van der Woude syndrome 21Aug 19, 2025
Vertebral anomalies and variable endocrine and T-cell dysfunction4Aug 19, 2025
Vertebral, cardiac, renal, and limb defects syndrome 37Aug 19, 2025
Vertebral, cardiac, tracheoesophageal, renal, and limb defects2Aug 19, 2025
Ververi-Brady syndrome8Aug 19, 2025
Very long chain acyl-CoA dehydrogenase deficiency73Aug 19, 2025
Vesicoureteral reflux 21Aug 19, 2025
Vesicoureteral reflux 840Aug 19, 2025
Vibratory urticaria1Aug 19, 2025
Vici syndrome23Aug 19, 2025
Vitamin D hydroxylation-deficient rickets, type 1B1Aug 19, 2025
Vitamin D-dependent rickets type II with alopecia4Aug 19, 2025
Vitamin D-dependent rickets, type 1A6Aug 19, 2025
Waardenburg syndrome type 4B2Aug 19, 2025
Wagner disease6Aug 19, 2025
Warburg micro syndrome 33Aug 19, 2025
Warburg micro syndrome 41Aug 19, 2025
Warsaw breakage syndrome3Aug 19, 2025
Weaver syndrome7Aug 19, 2025
Weill-Marchesani 4 syndrome, recessive1Aug 19, 2025
Weill-Marchesani syndrome 14Aug 19, 2025
Weiss-Kruszka syndrome4Aug 19, 2025
Werner syndrome25Aug 19, 2025
White-Kernohan syndrome1Aug 19, 2025
Wiedemann-Steiner syndrome22Aug 19, 2025
Wilson disease110Aug 19, 2025
Wilson-Turner syndrome6Aug 19, 2025
Wiskott-Aldrich syndrome 21Aug 19, 2025
Wolcott-Rallison dysplasia1Aug 19, 2025
Woodhouse-Sakati syndrome2Aug 19, 2025
X-linked Alport syndrome20Aug 19, 2025
X-linked Opitz G/BBB syndrome4Aug 19, 2025
X-linked central congenital hypothyroidism with late-onset testicular enlargement3Aug 19, 2025
X-linked chondrodysplasia punctata 14Aug 19, 2025
X-linked ichthyosis with steryl-sulfatase deficiency1Aug 19, 2025
X-linked intellectual disability Cabezas type4Aug 19, 2025
X-linked intellectual disability, Cantagrel type15Aug 19, 2025
X-linked intellectual disability-cerebellar hypoplasia syndrome13Aug 19, 2025
X-linked intellectual disability-short stature-overweight syndrome5Aug 19, 2025
X-linked lymphoproliferative disease due to XIAP deficiency1Aug 19, 2025
X-linked myopathy with excessive autophagy4Aug 19, 2025
X-linked sideroblastic anemia with ataxia2Aug 19, 2025
XK-related neurodegenerative disease11Aug 19, 2025
Xanthinuria type II6Aug 19, 2025
Xeroderma pigmentosum group A7Aug 19, 2025
Xeroderma pigmentosum variant type3Aug 19, 2025
Xeroderma pigmentosum, group C11Aug 19, 2025
Xeroderma pigmentosum, group E1Aug 19, 2025
ZTTK syndrome44Aug 19, 2025
Zimmermann-Laband syndrome 31Aug 19, 2025
alpha, alpha-Trehalase deficiency1Aug 19, 2025
not provided33061Jun 30, 2026

Testing in GTR

Disease nameNumber of tests
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Autoinflammatory Autoimmune1 test
Biotinidase deficiency1 test
COVID-192 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Citrullinemia type I1 test
Congenital hyperammonemia, type I1 test
Congenital hypothyroidism1 test
Cystic fibrosis1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Fabry disease1 test
Familial pulmonary capillary hemangiomatosis1 test
G6PD deficiency1 test
GTP cyclohydrolase I deficiency1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gaucher disease1 test
Glutaric aciduria, type 11 test
Glycogen storage disease, type II1 test
Hb SS disease1 test
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary disease466 tests
Holocarboxylase synthetase deficiency1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Maple syrup urine disease1 test
Maple syrup urine disease type 1A1 test
Medium chain 3-ketoacyl-Coa thiolase deficiency1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Methylcrotonyl-CoA carboxylase deficiency1 test
Mitochondrial trifunctional protein deficiency2 tests
Mucopolysaccharidosis1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Ornithine aminotransferase deficiency1 test
Phenylketonuria1 test
Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
Propionic acidemia2 tests
Severe combined immunodeficiency disease1 test
Tyrosinemia type I1 test
Tyrosinemia type II1 test
Tyrosinemia type III1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
beta Thalassemia1 test