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Genome-Nilou Lab

General information

Genome-Nilou Lab

No.4, 32nd st, Vali'asr Ave,Tehran, Iran
Tehran
Tehran
Iran - 1511945616
http://genome.niloulab.com/
Organization ID: 507598

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 35568

Gene

GeneSubmissionsLast Updated
AAAS7Aug 2, 2021
AAGAB5May 15, 2022
AARS12Aug 2, 2021
AARS218Aug 2, 2021
ABAT9Aug 2, 2021
ABCA16Aug 2, 2021
ABCA1234Aug 2, 2021
ABCA213Aug 2, 2021
ABCA36Aug 2, 2021
ABCA471Mar 2, 2022
ABCB1133Aug 30, 2021
ABCB411Aug 4, 2021
ABCB72Aug 4, 2021
ABCC25Aug 4, 2021
ABCC6171Jun 7, 2022
ABCC83Aug 30, 2021
ABCC913Aug 4, 2021
ABCD1129Dec 29, 2021
ABCD32Aug 4, 2021
ABCD45Aug 4, 2021
ABCG51Aug 4, 2021
ABCG812Aug 4, 2021
ABHD127Aug 4, 2021
ACACA1May 19, 2021
ACAD914Aug 11, 2021
ACADM14Aug 11, 2021
ACADS50Dec 15, 2021
ACADSB4Aug 4, 2021
ACADVL21Aug 30, 2021
ACAN162Jun 7, 2022
ACAT113Aug 11, 2021
ACBD53Aug 4, 2021
ACBD61Oct 18, 2021
ACD12Jun 7, 2022
ACE9Aug 4, 2021
ACO213Aug 4, 2021
ACOX114Aug 11, 2021
ACOX22Aug 4, 2021
ACP53Aug 4, 2021
ACSF337Aug 30, 2021
ACSL41Aug 4, 2021
ACTA13Aug 4, 2021
ACTB50Jun 7, 2022
ACTG1108Jun 7, 2022
ACTG28Aug 4, 2021
ACTL6B2Aug 4, 2021
ACTN210Aug 4, 2021
ACTN440Jun 7, 2022
ACVR114Jun 7, 2022
ACVR2B3Aug 4, 2021
ACVRL138Jun 7, 2022
ACYP11Jun 8, 2021
ADA74Nov 24, 2021
ADAM177Aug 4, 2021
ADAM223Aug 4, 2021
ADAM92Aug 4, 2021
ADAMTS104Aug 4, 2021
ADAMTS1718Aug 4, 2021
ADAMTS229Aug 4, 2021
ADAMTS33Aug 4, 2021
ADAMTSL29Aug 4, 2021
ADAMTSL44Aug 4, 2021
ADAR10Aug 4, 2021
ADARB11Aug 4, 2021
ADAT31Aug 2, 2021
ADCY15Aug 4, 2021
ADCY587Jun 7, 2022
ADGRG113Aug 11, 2021
ADGRV121Sep 21, 2021
ADK1Aug 4, 2021
ADNP23Jun 7, 2022
ADSL1May 19, 2021
ADSS15Aug 4, 2021
AEBP15Aug 4, 2021
AFF25Aug 4, 2021
AFF416Jun 7, 2022
AFG3L215Aug 4, 2021
AGA9Aug 11, 2021
AGA-DT2Aug 11, 2021
AGL177Jan 10, 2022
AGPAT23Aug 4, 2021
AGPS5Aug 11, 2021
AGRN19Aug 4, 2021
AGT2Aug 4, 2021
AGTR11Aug 4, 2021
AGXT15Jul 28, 2021
AHCY2Aug 4, 2021
AHDC156Jun 7, 2022
AHI14Aug 4, 2021
AHSG3Aug 4, 2021
AICDA4Aug 4, 2021
AIFM12Aug 4, 2021
AIRE11Aug 11, 2021
AKAP984Jun 7, 2022
ALAS21May 18, 2021
ALDH18A128Aug 4, 2021
ALDH3A27Aug 4, 2021
ALDH4A114Aug 4, 2021
ALDH6A11Aug 4, 2021
ALDH7A13Aug 4, 2021
ALDOA1Aug 4, 2021
ALDOB11Aug 30, 2021
ALG110Aug 4, 2021
ALG111Aug 9, 2021
ALG1349Jun 7, 2022
ALG67Jul 20, 2021
ALG86Aug 4, 2021
ALG94Aug 4, 2021
ALKBH85Aug 4, 2021
ALMS143Aug 30, 2021
ALOX12B3Aug 4, 2021
ALOXE35Aug 4, 2021
ALPL65Aug 30, 2021
ALS230Aug 4, 2021
ALX31Aug 4, 2021
ALX416Aug 4, 2021
AMACR12Aug 4, 2021
AMT4Aug 30, 2021
ANAPC17Aug 9, 2021
ANK141Jun 7, 2022
ANK2111Jun 7, 2022
ANK313Aug 9, 2021
ANKH33Jun 7, 2022
ANKLE210Aug 9, 2021
ANKRD11115Jun 7, 2022
ANKRD2667Jun 25, 2022
ANKS64Aug 9, 2021
ANLN25Jun 25, 2022
ANO105Aug 9, 2021
ANO341Jun 25, 2022
ANO5117Jun 25, 2022
ANOS12Oct 18, 2021
ANTXR117Jun 25, 2022
ANTXR24Aug 9, 2021
ANXA1126Jun 25, 2022
AOPEP3Jul 7, 2021
AP1B12Aug 9, 2021
AP1S11Aug 9, 2021
AP2M18Jun 25, 2022
AP2S11Aug 9, 2021
AP3B12Aug 9, 2021
AP4B13Aug 9, 2021
AP4B1-AS12Aug 9, 2021
AP4E140Jun 25, 2022
AP4M16Jan 25, 2022
AP4S14Aug 9, 2021
AP5Z15Aug 9, 2021
APC24Aug 2, 2021
APOA121Jun 25, 2022
APOA1-AS12Jun 25, 2022
APOB16Aug 9, 2021
APRT1Dec 29, 2021
APTX3Aug 9, 2021
AQP215Jun 25, 2022
AQP5-AS19Jun 25, 2022
AR1May 19, 2021
ARCN13Jun 25, 2022
ARFGEF25Aug 9, 2021
ARG11Aug 9, 2021
ARHGAP3130Jun 25, 2022
ARHGEF24Aug 9, 2021
ARID1A45Jun 25, 2022
ARID1B106Jan 10, 2022
ARL14EP-DT1Sep 21, 2021
ARL32Aug 9, 2021
ARMC92Aug 9, 2021
ARNT25Aug 9, 2021
ARSA13Aug 30, 2021
ARSB8Aug 30, 2021
ARSG3Aug 9, 2021
ARSL8Aug 9, 2021
ARV11Aug 9, 2021
ASAH142Aug 9, 2021
ASH1L2Aug 9, 2021
ASIC4-AS19Jan 12, 2022
ASL17Aug 30, 2021
ASNS7Aug 11, 2021
ASPA32Dec 15, 2021
ASPH11Aug 9, 2021
ASPM14Aug 9, 2021
ASS120Aug 30, 2021
ASXL154Jun 25, 2022
ASXL333Jun 25, 2022
ATAD3A12Aug 2, 2021
ATCAY1Aug 9, 2021
ATF66Aug 9, 2021
ATIC10Sep 21, 2021
ATL148Jun 25, 2022
ATL311Jun 25, 2022
ATM47Aug 30, 2021
ATP13A216Aug 9, 2021
ATP1A126Jun 25, 2022
ATP1A1-AS112Jun 25, 2022
ATP1A2272Jun 25, 2022
ATP1A3202Jun 25, 2022
ATP2A234Jun 25, 2022
ATP2B310Aug 9, 2021
ATP6AP11Aug 9, 2021
ATP6AP22Aug 9, 2021
ATP6V0A214Aug 9, 2021
ATP6V0A47Aug 9, 2021
ATP6V1B114Aug 30, 2021
ATP6V1B1-AS11Jul 28, 2021
ATP6V1B22Aug 9, 2021
ATP7A12Aug 11, 2021
ATP7B374Nov 24, 2021
ATP8A27Aug 9, 2021
ATP8B120Aug 9, 2021
ATP8B1-AS16Aug 9, 2021
ATR4Aug 9, 2021
ATRX12Aug 11, 2021
AUH1Aug 9, 2021
AVIL3Aug 9, 2021
AVPR24Aug 9, 2021
AXDND15Jul 17, 2021
AXIN26Aug 9, 2021
B3GALNT22Aug 9, 2021
B3GAT31Aug 9, 2021
B3GLCT14Aug 9, 2021
B4GALT12Aug 9, 2021
B4GALT74Aug 9, 2021
B9D16Aug 9, 2021
B9D25Aug 9, 2021
BAAT4Aug 9, 2021
BACH22Aug 9, 2021
BAG33Aug 9, 2021
BBOF11Aug 4, 2021
BBS110Aug 11, 2021
BBS103Aug 30, 2021
BBS128Aug 11, 2021
BBS224Aug 30, 2021
BBS47Aug 9, 2021
BBS51Aug 9, 2021
BBS71Aug 9, 2021
BBS94Aug 9, 2021
BCKDHA70Dec 15, 2021
BCKDHB67Dec 15, 2021
BCOR4Aug 9, 2021
BCS1L15Aug 30, 2021
BDP112Aug 9, 2021
BEST120Aug 9, 2021
BFSP16Aug 9, 2021
BFSP23Aug 9, 2021
BFSP2-AS13Aug 9, 2021
BGN11Aug 9, 2021
BHLHA92Aug 2, 2021
BICD22Aug 9, 2021
BIN113Aug 9, 2021
BIVM-ERCC54Sep 11, 2021
BLK8Aug 9, 2021
BLM27Aug 30, 2021
BLNK3Aug 9, 2021
BLOC1S1-RDH52Dec 15, 2021
BLOC1S31Aug 9, 2021
BLTP14Oct 18, 2021
BMP13Aug 9, 2021
BMP151Aug 9, 2021
BMP22Aug 9, 2021
BMP44Aug 9, 2021
BMPER3Aug 9, 2021
BMPR1A2Aug 9, 2021
BOLA21Sep 11, 2021
BPTF1Aug 9, 2021
BRCA12Jul 6, 2021
BRPF11Aug 9, 2021
BRWD34Aug 9, 2021
BSCL216Aug 9, 2021
BSND7Aug 30, 2021
BTD12Aug 30, 2021
BTK8Aug 9, 2021
BUB1B4Aug 10, 2021
BVES3Aug 10, 2021
C10orf10519Aug 11, 2021
C10orf551Dec 4, 2021
C11orf6517Aug 30, 2021
C12orf291Aug 30, 2021
C12orf572Aug 10, 2021
C12orf6012Sep 21, 2021
C14orf391Jan 10, 2022
C17orf1076Jul 25, 2021
C19orf122Aug 10, 2021
C1QA1Aug 10, 2021
C1QTNF3-AMACR12Aug 4, 2021
C1QTNF51Nov 10, 2021
C1orf1052Dec 4, 2021
C22Aug 23, 2021
C2CD32Aug 10, 2021
C346Aug 10, 2021
C4orf474May 15, 2022
C9orf723Aug 10, 2021
CA22Aug 10, 2021
CA5A3Aug 10, 2021
CA84Aug 10, 2021
CABP21Aug 10, 2021
CABP43Aug 10, 2021
CACNA1A80Aug 10, 2021
CACNA1B3Aug 10, 2021
CACNA1C26Aug 10, 2021
CACNA1C-AS15Aug 10, 2021
CACNA1D22Aug 10, 2021
CACNA1E6Aug 10, 2021
CACNA1F15Aug 10, 2021
CACNA1G15Aug 10, 2021
CACNA1S14Aug 10, 2021
CACNA2D417Aug 2, 2021
CAD1Aug 10, 2021
CALCRL2Aug 10, 2021
CALCRL-AS12Aug 10, 2021
CALM12Aug 10, 2021
CALM22Aug 10, 2021
CALM32Aug 10, 2021
CAMK2A10Aug 10, 2021
CAMK2B10Aug 10, 2021
CAMK2G5Aug 10, 2021
CAMTA16Aug 10, 2021
CAPN17Aug 10, 2021
CAPN343Aug 30, 2021
CARD1121Aug 10, 2021
CARD1425Dec 29, 2021
CARD92Aug 10, 2021
CARMIL23Dec 15, 2021
CARS26Aug 10, 2021
CASD12Jan 10, 2022
CASP102Aug 10, 2021
CASQ25Aug 10, 2021
CASR15Aug 10, 2021
CAST3Aug 10, 2021
CATSPER12Aug 10, 2021
CAV13Aug 10, 2021
CBL2Aug 10, 2021
CBS11Aug 30, 2021
CC2D1A2Aug 10, 2021
CC2D2A26Aug 10, 2021
CCBE17Aug 10, 2021
CCDC1744Aug 10, 2021
CCDC223Aug 10, 2021
CCDC4013Aug 10, 2021
CCDC472Aug 10, 2021
CCDC5010Aug 10, 2021
CCDC654Aug 10, 2021
CCDC785Aug 2, 2021
CCDC88A5Aug 10, 2021
CCDC88C18Aug 10, 2021
CCND22Aug 10, 2021
CCND2-AS11Aug 10, 2021
CCNK1Aug 10, 2021
CCT515Aug 10, 2021
CD192Aug 10, 2021
CD2471Aug 10, 2021
CD272Aug 10, 2021
CD27-AS12Aug 10, 2021
CD47Aug 10, 2021
CD402Aug 10, 2021
CDC14A3Aug 10, 2021
CDCA31Sep 21, 2021
CDCA72Aug 10, 2021
CDH112Aug 10, 2021
CDH118Aug 10, 2021
CDH153Aug 10, 2021
CDH23232Aug 30, 2021
CDH23-AS110Aug 10, 2021
CDH318Aug 10, 2021
CDHR14Aug 10, 2021
CDIN17Aug 10, 2021
CDK102Aug 10, 2021
CDK5RAP28Aug 10, 2021
CDK81Aug 23, 2021
CDKL52Aug 23, 2021
CDKN1B1Aug 23, 2021
CDKN1C2Aug 23, 2021
CDON6Aug 23, 2021
CDSN1Aug 23, 2021
CDT14Aug 23, 2021
CENPE4Aug 23, 2021
CENPF30Aug 23, 2021
CENPJ8Aug 23, 2021
CENPT3Aug 23, 2021
CEP10410Aug 23, 2021
CEP1204Aug 23, 2021
CEP1283Mar 2, 2022
CEP1522Aug 23, 2021
CEP1648Aug 23, 2021
CEP29074Aug 30, 2021
CEP411Aug 23, 2021
CEP552Aug 23, 2021
CEP635Oct 18, 2021
CEP85L3Aug 23, 2021
CERKL10Aug 23, 2021
CERS35Aug 23, 2021
CERS3-AS12Aug 23, 2021
CFAP3002Aug 10, 2021
CFAP695Aug 10, 2021
CFB4Aug 23, 2021
CFH28Aug 23, 2021
CFI5Aug 23, 2021
CFTR418Nov 24, 2021
CFTR-AS154Nov 24, 2021
CHAT9Jan 10, 2022
CHCHD1012Aug 23, 2021
CHD210Aug 23, 2021
CHD33Aug 30, 2021
CHD43Aug 23, 2021
CHD710Aug 23, 2021
CHKB1Aug 23, 2021
CHKB-CPT1B1Aug 23, 2021
CHM1Jul 31, 2021
CHMP2B1Aug 23, 2021
CHN11Aug 23, 2021
CHRNA112Aug 23, 2021
CHRNA22Aug 23, 2021
CHRNA36Aug 23, 2021
CHRNA49Aug 23, 2021
CHRNB14Aug 23, 2021
CHRNE22Jul 25, 2021
CHSY13Aug 23, 2021
CIDEC1Aug 23, 2021
CIITA24Aug 11, 2021
CILK11Sep 21, 2021
CIT6Aug 23, 2021
CKAP2L2Aug 23, 2021
CLCN120Aug 23, 2021
CLCN733Aug 2, 2021
CLCNKA9Aug 23, 2021
CLCNKB48Aug 23, 2021
CLDN11Aug 23, 2021
CLDN142Aug 23, 2021
CLDN14-AS12Aug 23, 2021
CLDN164Aug 23, 2021
CLN385Nov 24, 2021
CLN582Nov 24, 2021
CLN84Jul 31, 2021
CLPP2Sep 1, 2021
CLPX1Sep 1, 2021
CLRN12Aug 11, 2021
CLTC2Sep 1, 2021
CNBP1Sep 1, 2021
CNGA13Sep 1, 2021
CNGB112Sep 1, 2021
CNGB311Aug 11, 2021
CNNM24Sep 1, 2021
CNOT114Sep 1, 2021
CNTN11Sep 1, 2021
CNTN23Sep 1, 2021
CNTNAP16Sep 1, 2021
CNTNAP26Sep 1, 2021
COA62Sep 1, 2021
COA6-AS11Sep 1, 2021
COA81Aug 9, 2021
COASY4Sep 1, 2021
COCH4Sep 1, 2021
COG17Sep 1, 2021
COG48Sep 1, 2021
COG53Sep 1, 2021
COG66Sep 1, 2021
COL10A11Sep 1, 2021
COL11A164Sep 1, 2021
COL11A275Sep 1, 2021
COL12A112Sep 1, 2021
COL13A18Sep 1, 2021
COL17A128Sep 1, 2021
COL18A122Sep 1, 2021
COL1A145Sep 1, 2021
COL1A216Sep 1, 2021
COL27A144Aug 11, 2021
COL3A116Sep 1, 2021
COL4A120Sep 1, 2021
COL4A219Sep 1, 2021
COL4A2-AS14Sep 1, 2021
COL4A2-AS22Sep 1, 2021
COL4A373Sep 11, 2021
COL4A435Sep 11, 2021
COL4A516Sep 11, 2021
COL4A646Jul 28, 2022
COL5A1368Jul 28, 2022
COL5A28Sep 11, 2021
COL6A126Sep 11, 2021
COL6A236Sep 11, 2021
COL6A330Sep 11, 2021
COL7A11Jun 1, 2021
COL8A24Sep 11, 2021
COL9A112Sep 11, 2021
COL9A36Sep 11, 2021
COLQ5Sep 11, 2021
COPB23Sep 11, 2021
COQ23Sep 11, 2021
COQ41Sep 11, 2021
COQ63Sep 11, 2021
COQ73Sep 11, 2021
COQ8A11Aug 4, 2021
COQ8B2Aug 4, 2021
CORO1A1Sep 11, 2021
CP6Sep 11, 2021
CPLANE17Jan 10, 2022
CPLX13Aug 2, 2021
CPS120Sep 11, 2021
CPT1A19Sep 11, 2021
CPT1C1Sep 11, 2021
CPT217Aug 30, 2021
CR26Sep 11, 2021
CRAT2Sep 11, 2021
CRB157Aug 30, 2021
CRB216Sep 11, 2021
CRBN3Sep 11, 2021
CREB3L12Sep 11, 2021
CRELD11Oct 18, 2021
CRTAP3Sep 11, 2021
CRX1Aug 2, 2021
CRYAA1Sep 11, 2021
CRYAB3Sep 11, 2021
CRYBA42Sep 11, 2021
CRYBB23Sep 11, 2021
CRYBB32Sep 11, 2021
CRYGB2Sep 11, 2021
CRYGD4Sep 11, 2021
CRYM2Sep 11, 2021
CSF1R12Sep 11, 2021
CSF3R2Sep 11, 2021
CSGALNACT12Sep 11, 2021
CSNK2A11Aug 2, 2021
CTC197Jan 10, 2022
CTDP12Sep 11, 2021
CTNNA22Sep 11, 2021
CTNND11Sep 11, 2021
CTNS29Aug 30, 2021
CTNS-AS110Jul 25, 2021
CTPS12Sep 11, 2021
CTSA6Sep 11, 2021
CTSB2Sep 11, 2021
CTSD2Aug 2, 2021
CTSF3Sep 11, 2021
CTSK2Jul 17, 2021
CTU210Aug 1, 2022
CUBN28Sep 11, 2021
CUL72Sep 11, 2021
CUX110Sep 11, 2021
CUX22Sep 11, 2021
CWC276Sep 11, 2021
CYBA14Aug 30, 2021
CYBB2Jul 31, 2021
CYC13Sep 11, 2021
CYFIP26Sep 11, 2021
CYGB1Dec 8, 2021
CYLD3Sep 11, 2021
CYP11B14Sep 11, 2021
CYP11B243Jul 7, 2021
CYP17A18Jul 14, 2021
CYP19A12Jul 13, 2021
CYP1B114Sep 11, 2021
CYP21A25Sep 11, 2021
CYP24A12Sep 11, 2021
CYP27A11Aug 30, 2021
CYP2U11Sep 11, 2021
CYP4F225Sep 11, 2021
CYP4V24Sep 11, 2021
CYP7B12Sep 11, 2021
CZ1P-ASNS7Aug 11, 2021
D2HGDH7Sep 11, 2021
DACT12Sep 11, 2021
DAG13Sep 11, 2021
DARS12Sep 11, 2021
DBH4Sep 11, 2021
DBH-AS11Sep 11, 2021
DBT27Mar 6, 2022
DCC12Sep 11, 2021
DCDC212Sep 11, 2021
DCHS16Sep 11, 2021
DCLRE1C22Sep 11, 2021
DCPS2Sep 11, 2021
DDB22Sep 11, 2021
DDC5Sep 11, 2021
DDHD16Sep 11, 2021
DDHD21Sep 11, 2021
DDOST6Dec 4, 2021
DDR28Sep 11, 2021
DDRGK11Sep 11, 2021
DDX1111Sep 11, 2021
DDX592Sep 11, 2021
DDX61Sep 11, 2021
DEAF116Aug 2, 2021
DELE12Dec 4, 2021
DENND5A3Sep 11, 2021
DEPDC53Dec 22, 2021
DES9Sep 11, 2021
DGCR61Dec 8, 2021
DGKE2Sep 11, 2021
DGUOK3Sep 11, 2021
DGUOK-AS13Sep 11, 2021
DHCR242Sep 11, 2021
DHCR722Aug 30, 2021
DHDDS2Jul 17, 2021
DHODH3Sep 11, 2021
DHTKD118Sep 11, 2021
DHX3730Sep 11, 2021
DHX387Sep 11, 2021
DIAPH12Sep 11, 2021
DIAPH32Sep 11, 2021
DIAPH3-AS11Sep 11, 2021
DICER16Sep 11, 2021
DIP2B6Sep 11, 2021
DIS3L21Sep 11, 2021
DKC13Sep 11, 2021
DLAT5Sep 11, 2021
DLD10Oct 18, 2021
DLG44Sep 11, 2021
DLL35Sep 11, 2021
DLX36Sep 11, 2021
DMAC2L1Oct 18, 2021
DMD43Sep 11, 2021
DMP13Sep 11, 2021
DMXL236Sep 11, 2021
DNA22Sep 11, 2021
DNAAF15Sep 11, 2021
DNAAF112Oct 18, 2021
DNAAF35Feb 21, 2022
DNAAF3-AS12Sep 11, 2021
DNAAF42Sep 11, 2021
DNAAF4-CCPG12Sep 11, 2021
DNAAF514Aug 2, 2021
DNAH16Sep 11, 2021
DNAH1128Sep 11, 2021
DNAH565Sep 11, 2021
DNAH913Sep 11, 2021
DNAI18Aug 30, 2021
DNAI217Aug 15, 2021
DNAJB131Sep 11, 2021
DNAJB23Sep 11, 2021
DNAJB61Sep 11, 2021
DNM11Sep 11, 2021
DNM1L17May 15, 2022
DNM23Sep 11, 2021
DNMBP6Sep 11, 2021
DNMBP-AS11Sep 11, 2021
DNMT112Sep 11, 2021
DNMT3B5Sep 11, 2021
DOCK28Sep 11, 2021
DOCK31Sep 11, 2021
DOCK69Sep 11, 2021
DOCK71Sep 11, 2021
DOCK827Sep 11, 2021
DOK76Sep 11, 2021
DPAGT12Sep 11, 2021
DPH13Aug 2, 2021
DPM22Sep 11, 2021
DRAM22Sep 11, 2021
DRC14Sep 11, 2021
DSE2Sep 11, 2021
DSG16Sep 11, 2021
DSG1-AS12Sep 11, 2021
DSP40Sep 11, 2021
DSPP12Sep 11, 2021
DST13Sep 11, 2021
DSTYK4Sep 11, 2021
DUSP61Sep 11, 2021
DVL15Aug 2, 2021
DYNC1H130Sep 11, 2021
DYNC2H114Sep 11, 2021
DYNC2I111May 15, 2022
DYNC2I24May 15, 2022
DYNC2LI11Sep 11, 2021
DYNLT2B1Jan 25, 2022
DYSF168Sep 11, 2021
DZIP1L4Sep 11, 2021
EARS27Sep 11, 2021
EBP2Sep 11, 2021
ECEL14Sep 11, 2021
ECHS14Sep 11, 2021
ECM12Sep 11, 2021
EDA4Sep 11, 2021
EDAR12Sep 11, 2021
EDARADD6Sep 11, 2021
EDN12Sep 11, 2021
EDNRA2Sep 11, 2021
EDNRB2Sep 11, 2021
EDNRB-AS12Sep 11, 2021
EED2Sep 11, 2021
EEF1A24Sep 11, 2021
EEF23Sep 11, 2021
EFCAB102Dec 15, 2021
EFEMP14Sep 11, 2021
EFEMP24Sep 11, 2021
EFL14Sep 11, 2021
EFNB11Sep 11, 2021
EFTUD23Sep 11, 2021
EGFR6Sep 11, 2021
EGFR-AS11Sep 11, 2021
EGR23Sep 11, 2021
EHMT13Sep 11, 2021
EIF2AK36Sep 11, 2021
EIF2AK47Sep 11, 2021
EIF2B31Sep 21, 2021
EIF2B42Sep 11, 2021
EIF2B56Aug 30, 2021
EIF2S31Sep 11, 2021
EIF3F2Sep 11, 2021
ELAC29Sep 11, 2021
ELMO21Sep 11, 2021
ELN3Sep 11, 2021
ELN-AS11Sep 11, 2021
ELOVL43Sep 11, 2021
ELP137Aug 30, 2021
ELP41Sep 11, 2021
EMC17Sep 11, 2021
EMC1-AS16Sep 11, 2021
EMD5Aug 15, 2021
EME21Aug 2, 2021
EMG11Sep 11, 2021
EML12Sep 11, 2021
EMP21Sep 11, 2021
ENO32Sep 11, 2021
ENPP16Sep 11, 2021
ENTPD11Sep 11, 2021
ENTPD1-AS11Sep 11, 2021
ENTPD53Sep 11, 2021
EOGT4Sep 11, 2021
EP30010Sep 11, 2021
EPCAM1Sep 11, 2021
EPG56Sep 11, 2021
EPHA24Sep 11, 2021
EPHB410Sep 11, 2021
EPM2A1Sep 11, 2021
EPM2A-DT1Sep 11, 2021
EPRS15Sep 11, 2021
EPS8L24Aug 2, 2021
ERAL11Sep 11, 2021
ERBB38Sep 11, 2021
ERBB43Sep 11, 2021
ERCC218Sep 11, 2021
ERCC415Sep 11, 2021
ERCC54Sep 11, 2021
ERCC629Sep 11, 2021
ERCC6-PGBD312Sep 11, 2021
ERCC6L22Sep 11, 2021
ERCC83Nov 17, 2021
ERLIN11Sep 11, 2021
ERMARD1May 18, 2021
ERMP11Oct 18, 2021
ESCO25Jul 31, 2021
ESR23Jan 25, 2022
ESRP14Sep 11, 2021
ESRRB1Sep 11, 2021
ETFA5Jul 13, 2021
ETFB1Sep 11, 2021
ETFDH5Sep 11, 2021
ETHE15Aug 15, 2021
EVC50Sep 11, 2021
EVC24Sep 11, 2021
EVI2B1Aug 15, 2022
EXOSC31Sep 21, 2021
EXOSC81Sep 21, 2021
EXPH54Sep 21, 2021
EXT12Sep 21, 2021
EXT22Sep 21, 2021
EYA115Sep 21, 2021
EYA45Sep 21, 2021
EYS63Aug 30, 2021
EZH24Sep 21, 2021
F103Sep 21, 2021
F119Aug 30, 2021
F11-AS15Jul 31, 2021
F125Sep 21, 2021
F13A18Sep 21, 2021
F13B3Sep 21, 2021
F22Sep 21, 2021
F83Sep 21, 2021
F94Sep 21, 2021
FA2H3Sep 21, 2021
FAH22Aug 30, 2021
FAM161A9Jul 28, 2021
FAM20A4Dec 8, 2021
FAM20C11Sep 21, 2021
FAM83H3Sep 21, 2021
FAN13Sep 21, 2021
FANCA49Aug 30, 2021
FANCB1Sep 21, 2021
FANCC7Aug 15, 2021
FANCD29Sep 21, 2021
FANCE3Sep 21, 2021
FANCF1Sep 21, 2021
FANCG13Aug 30, 2021
FANCI14Dec 8, 2021
FANCL1Sep 21, 2021
FANCM12Sep 21, 2021
FARS23Nov 10, 2021
FAS1Sep 21, 2021
FASLG1Sep 21, 2021
FASTKD21Sep 21, 2021
FAT224Sep 21, 2021
FAT430Sep 21, 2021
FBLN12Sep 21, 2021
FBLN53Sep 21, 2021
FBN28Sep 21, 2021
FBP18Sep 21, 2021
FBXL355Nov 24, 2021
FBXO111Sep 21, 2021
FBXO385Sep 21, 2021
FCSK1Sep 21, 2021
FDFT15Sep 21, 2021
FDX22Sep 21, 2021
FDXR1Sep 21, 2021
FECH4Sep 21, 2021
FERMT16Sep 21, 2021
FGB4Sep 21, 2021
FGD12Sep 21, 2021
FGD46Sep 21, 2021
FGF122Sep 21, 2021
FGF201Sep 21, 2021
FGF94Sep 21, 2021
FH4Jul 14, 2021
FHL15Sep 21, 2021
FIBP1Sep 21, 2021
FIG424Sep 21, 2021
FIGLA5Sep 21, 2021
FKRP22Aug 30, 2021
FKTN31Sep 21, 2021
FLCN4Sep 21, 2021
FLRT31Sep 21, 2021
FLT418Sep 21, 2021
FLVCR13Sep 21, 2021
FLVCR23Sep 21, 2021
FLVCR2-AS12Sep 21, 2021
FMN27Sep 21, 2021
FMO35Sep 21, 2021
FN136Sep 21, 2021
FOXC12Sep 21, 2021
FOXI11Sep 21, 2021
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PCNT16Dec 4, 2021
PCSK96Dec 4, 2021
PDE10A4Dec 4, 2021
PDE11A10Dec 4, 2021
PDE11A-AS11Dec 4, 2021
PDE1C5Dec 4, 2021
PDE3A4Dec 4, 2021
PDE4D5Dec 4, 2021
PDE6A2Dec 4, 2021
PDE6B5Sep 21, 2021
PDE6B-AS12Aug 2, 2021
PDE6C2Dec 4, 2021
PDE6G1Dec 4, 2021
PDE8B1Dec 4, 2021
PDGFRB15Dec 4, 2021
PDHB7Dec 4, 2021
PDK31Dec 4, 2021
PDP11Dec 4, 2021
PDSS16Dec 4, 2021
PDSS21Dec 4, 2021
PDXK3Dec 4, 2021
PDZD715Aug 1, 2022
PDZD91May 15, 2022
PEX151Dec 4, 2021
PEX1012Aug 20, 2021
PEX143Dec 4, 2021
PEX166Dec 4, 2021
PEX191Dec 4, 2021
PEX215Aug 20, 2021
PEX34Dec 4, 2021
PEX56Dec 4, 2021
PEX633Aug 20, 2021
PEX712Dec 4, 2021
PFAS5Jan 10, 2022
PFKM10Dec 4, 2021
PFN11Dec 4, 2021
PGAP11Dec 4, 2021
PGAP32Dec 4, 2021
PGBD34Sep 11, 2021
PGK11Dec 4, 2021
PGM14Dec 4, 2021
PHC15Dec 4, 2021
PHEX1Dec 4, 2021
PHF21A2Dec 4, 2021
PHF61Dec 4, 2021
PHF81Dec 4, 2021
PHGDH10Jul 17, 2021
PHIP9Dec 4, 2021
PHKG21Dec 4, 2021
PHYH4Dec 4, 2021
PI4KA22Jan 12, 2022
PIBF12Dec 4, 2021
PIEZO170Dec 4, 2021
PIEZO296Dec 4, 2021
PIGB3Dec 4, 2021
PIGBOS13Dec 4, 2021
PIGC2Dec 4, 2021
PIGG6Dec 4, 2021
PIGK3Dec 4, 2021
PIGL1Dec 4, 2021
PIGN6Dec 4, 2021
PIGO3Dec 4, 2021
PIGQ18Aug 2, 2021
PIGT8Dec 4, 2021
PIGU1Dec 4, 2021
PIK3C2A6Dec 4, 2021
PIK3CD6Dec 4, 2021
PIK3R19Dec 4, 2021
PIK3R24Dec 4, 2021
PIK3R511Dec 4, 2021
PIKFYVE13Dec 4, 2021
PINK16Dec 4, 2021
PINK1-AS3Dec 4, 2021
PIP5K1C4Dec 4, 2021
PIRC662Jul 13, 2021
PITPNM34Dec 4, 2021
PITX12Dec 4, 2021
PITX32Dec 4, 2021
PJVK2Sep 11, 2021
PKD13Aug 2, 2021
PKD1L123Dec 4, 2021
PKD1L1-AS14Dec 4, 2021
PKD21Dec 4, 2021
PKDCC3Dec 4, 2021
PKHD167Dec 4, 2021
PKP21Dec 4, 2021
PLAU1Dec 4, 2021
PLCB112Dec 4, 2021
PLCB44Dec 4, 2021
PLCE17Dec 8, 2021
PLCE1-AS12Dec 8, 2021
PLCG226Dec 8, 2021
PLCH21Jun 15, 2021
PLD12Dec 8, 2021
PLEC195Dec 8, 2021
PLEKHG210Dec 8, 2021
PLEKHG510Dec 8, 2021
PLG14Dec 8, 2021
PLIN14Dec 8, 2021
PLK42Dec 8, 2021
PLOD12Dec 8, 2021
PLOD26Dec 8, 2021
PLP14Dec 8, 2021
PLS12Dec 8, 2021
PMFBP11Dec 8, 2021
PMM27Aug 30, 2021
PMP21Dec 8, 2021
PMPCA2Dec 8, 2021
PMPCB1Dec 8, 2021
PMS24Dec 8, 2021
PNKP3Dec 8, 2021
PNLIP1Dec 8, 2021
PNP4Dec 8, 2021
PNPLA16Dec 8, 2021
PNPLA23Aug 2, 2021
PNPLA652Dec 8, 2021
PNPLA82Dec 8, 2021
PNPO2Dec 8, 2021
PNPT112Dec 8, 2021
POC1B2Dec 8, 2021
POF1B2Dec 8, 2021
POFUT11Dec 8, 2021
POGLUT14Dec 8, 2021
POGZ6Dec 8, 2021
POLD19Dec 8, 2021
POLE30Dec 8, 2021
POLG26Dec 8, 2021
POLG29Dec 8, 2021
POLR1A7Dec 8, 2021
POLR1C18Aug 2, 2021
POLR1D2Dec 8, 2021
POLR2A7Dec 8, 2021
POLR2F3Jan 12, 2022
POLR3B2Dec 8, 2021
POMGNT174Dec 8, 2021
POMGNT24Dec 8, 2021
POMK2Dec 8, 2021
POMT142Dec 8, 2021
POMT212Dec 8, 2021
POP11Dec 8, 2021
POR6Dec 8, 2021
PPA25Dec 8, 2021
PPIB1Dec 8, 2021
PPP1CB1Dec 8, 2021
PPP1R12A1Dec 8, 2021
PPP1R3A3Dec 8, 2021
PPP2CA1Dec 8, 2021
PPP2R1A1Aug 30, 2021
PPP2R3C2Dec 8, 2021
PPT19Jul 17, 2021
PQBP11Dec 8, 2021
PRCD1Dec 8, 2021
PRDM122Dec 8, 2021
PRDM164Dec 8, 2021
PRDM51Dec 8, 2021
PRDM81Dec 8, 2021
PRDX11Dec 8, 2021
PREPL4Jan 12, 2022
PRF11Dec 8, 2021
PRG43Dec 8, 2021
PRICKLE11Dec 8, 2021
PRKAG23Dec 8, 2021
PRKAR1A10Dec 8, 2021
PRKCD6Dec 8, 2021
PRKCG3Dec 8, 2021
PRKCSH2Dec 8, 2021
PRKD14Dec 8, 2021
PRKDC1Dec 8, 2021
PRKG13Dec 8, 2021
PRMT75Dec 8, 2021
PROC6Dec 8, 2021
PRODH10Dec 8, 2021
PROKR22Dec 8, 2021
PROM120Dec 8, 2021
PROP14Dec 8, 2021
PRORP2Dec 8, 2021
PROS12Dec 8, 2021
PRPH225Dec 8, 2021
PRPS14Dec 8, 2021
PRRT23Dec 8, 2021
PRSS11Dec 8, 2021
PRSS122Dec 8, 2021
PRSS562Dec 8, 2021
PRX6Dec 8, 2021
PSAP42Dec 8, 2021
PSAT18Dec 8, 2021
PSEN15Dec 8, 2021
PSEN216Dec 8, 2021
PSENEN1Dec 8, 2021
PSMB43Dec 8, 2021
PSMB81Dec 8, 2021
PSMB91Dec 8, 2021
PSMC3IP1Dec 8, 2021
PSMD122Dec 8, 2021
PSORS1C11Aug 23, 2021
PSPH2May 12, 2021
PSTPIP12Dec 8, 2021
PTCH16Dec 8, 2021
PTCH23Dec 8, 2021
PTDSS13Dec 8, 2021
PTEN2Dec 8, 2021
PTF1A4Dec 15, 2021
PTH2Dec 15, 2021
PTH1R8Dec 15, 2021
PTHLH1Dec 15, 2021
PTPN147Dec 15, 2021
PTPRC1Dec 15, 2021
PTPRQ22Dec 15, 2021
PTS25Nov 24, 2021
PUM13Dec 15, 2021
PUS11Jul 20, 2021
PUS34Dec 15, 2021
PUS74Dec 15, 2021
PXDN12Dec 15, 2021
PYCR12Dec 15, 2021
PYCR22Dec 15, 2021
PYGL7Dec 15, 2021
PYGM28Aug 23, 2021
PYROXD19Dec 15, 2021
PYY5Jul 25, 2021
QARS12Dec 15, 2021
QDPR2Dec 15, 2021
QRICH23Dec 15, 2021
QRSL13Dec 15, 2021
RAB181Dec 15, 2021
RAB234Aug 30, 2021
RAB27A1Dec 15, 2021
RAB33A2Aug 4, 2021
RAB3GAP14Dec 15, 2021
RAB3GAP26Dec 15, 2021
RAB9B4Dec 8, 2021
RABEP11Dec 4, 2021
RAC12Dec 15, 2021
RAC212Dec 15, 2021
RAD216Dec 15, 2021
RAD51C1Dec 15, 2021
RAG16Dec 15, 2021
RAG214Aug 30, 2021
RAI14Dec 15, 2021
RALGAPA14Dec 15, 2021
RANBP212Sep 11, 2021
RAPGEF25Dec 15, 2021
RAPSN16Dec 15, 2021
RARS15Dec 15, 2021
RARS214Aug 23, 2021
RASGRP11Dec 15, 2021
RASGRP25Dec 15, 2021
RB13Dec 15, 2021
RBBP86Dec 15, 2021
RBCK15Aug 2, 2021
RBM205Dec 15, 2021
RBM481Jul 7, 2021
RBM8A1May 19, 2021
RBMX1Dec 15, 2021
RBP32Dec 15, 2021
RBP42Dec 15, 2021
RCBTB15Dec 15, 2021
RDH126Aug 30, 2021
RDH52Dec 15, 2021
RDX2Dec 15, 2021
RECQL436Dec 15, 2021
REEP18Dec 15, 2021
REEP67Aug 2, 2021
RELN11Dec 15, 2021
REN4Dec 15, 2021
RERE4Dec 15, 2021
RET15Dec 15, 2021
RETREG13Sep 21, 2021
RFC14Dec 15, 2021
RFT12Dec 15, 2021
RFWD33Dec 15, 2021
RFX52Dec 15, 2021
RFX61Dec 15, 2021
RFXAP1Dec 15, 2021
RGR2Dec 15, 2021
RHBDF24Dec 15, 2021
RHO6Dec 15, 2021
RHOBTB23Dec 15, 2021
RIC14Oct 18, 2021
RIC36May 15, 2022
RIF128Jul 25, 2021
RIGI6Sep 11, 2021
RIMS13Dec 15, 2021
RIN23Dec 15, 2021
RINT13Dec 15, 2021
RIPK12Dec 15, 2021
RIPK411Dec 15, 2021
RIPOR24Sep 21, 2021
RIPPLY22Dec 15, 2021
RIPPLY2-CYB5R42Dec 15, 2021
RIT12Dec 15, 2021
RLBP12Dec 15, 2021
RMND13Dec 15, 2021
RNASEH12Dec 15, 2021
RNF113A1Dec 15, 2021
RNF1251Dec 15, 2021
RNF131Dec 15, 2021
RNF146Dec 4, 2021
RNF1683Dec 15, 2021
RNF174Aug 23, 2021
RNF431Dec 15, 2021
RNPC32Dec 15, 2021
ROBO36Dec 15, 2021
ROGDI1Dec 15, 2021
ROR14Dec 15, 2021
ROR210Dec 15, 2021
RORA1Dec 15, 2021
RORA-AS11Dec 15, 2021
RORC1Dec 15, 2021
RP16Dec 15, 2021
RP1L140Dec 15, 2021
RP93Dec 15, 2021
RPE6519Dec 15, 2021
RPGR9Dec 15, 2021
RPGRIP1151Dec 29, 2021
RPGRIP1L25Jul 25, 2021
RPL101Dec 15, 2021
RPL111Dec 15, 2021
RPL132Dec 15, 2021
RPL271Dec 15, 2021
RPL36A-HNRNPH2173Jan 10, 2022
RPS231Dec 15, 2021
RPS241Dec 15, 2021
RPS261Dec 15, 2021
RPS271Dec 15, 2021
RPS281Dec 15, 2021
RPS6KA32Dec 15, 2021
RPS71Dec 15, 2021
RPSA3Dec 15, 2021
RRAS21Dec 15, 2021
RS11Jun 16, 2021
RSPH14Dec 15, 2021
RSPH4A1Dec 15, 2021
RSPO24Dec 15, 2021
RSPRY11Dec 15, 2021
RTEL142Jul 28, 2021
RTEL1-TNFRSF6B42Jul 28, 2021
RTN4IP12Dec 15, 2021
RTTN9Dec 15, 2021
RUNX12Dec 15, 2021
RUSC22Dec 15, 2021
RXYLT11Feb 21, 2022
RXYLT1-AS11Feb 21, 2022
RYR193Dec 15, 2021
RYR269Dec 15, 2021
S1PR21Dec 15, 2021
SACS298Nov 24, 2021
SAG3Dec 15, 2021
SALL13Dec 15, 2021
SALL48Dec 15, 2021
SAMHD14Jul 28, 2021
SAR1B1Dec 15, 2021
SARM11May 17, 2021
SARS12Dec 15, 2021
SARS27Dec 15, 2021
SASH14Dec 15, 2021
SASS61Dec 15, 2021
SATB22Dec 15, 2021
SBDS1Dec 15, 2021
SBF113Dec 15, 2021
SBF24Dec 15, 2021
SBF2-AS13Dec 15, 2021
SCAMP41Aug 2, 2021
SCAPER8Dec 15, 2021
SCARB21Dec 15, 2021
SCARF26Jan 10, 2022
SCN10A12Jan 10, 2022
SCN11A10Jan 10, 2022
SCN1A2Aug 30, 2021
SCN1A-AS124Jan 10, 2022
SCN2A24Jan 10, 2022
SCN2B1Jan 10, 2022
SCN3A16Jan 10, 2022
SCN3B1Jan 10, 2022
SCN8A32Jan 10, 2022
SCN9A33Jan 10, 2022
SCNN1A6Jan 10, 2022
SCNN1B6Jan 10, 2022
SCNN1G18Jan 10, 2022
SCO212May 15, 2022
SCP21Jan 10, 2022
SCYL23Jan 10, 2022
SDCCAG810Jan 10, 2022
SDHA12Aug 2, 2021
SDHAF11Jan 10, 2022
SDHAF21Jan 10, 2022
SDHB8Jan 10, 2022
SDHD12Jan 10, 2022
SEC23A4Jan 10, 2022
SEC23B12Jan 10, 2022
SEC24D4Jan 10, 2022
SEC31A6Jan 10, 2022
SEC6310Jan 10, 2022
SELENON5Jan 10, 2022
SEMA3E7Jan 10, 2022
SEMA4A2Jan 10, 2022
SEMA6B5Jan 10, 2022
SEPSECS3Aug 23, 2021
SEPTIN937May 15, 2022
SERAC143Jul 28, 2022
SERPINB65Jan 10, 2022
SERPINB84Jan 10, 2022
SERPINC13Jan 10, 2022
SERPING12Jan 10, 2022
SERPINH16Jan 10, 2022
SET2Jan 10, 2022
SETBP12Jan 10, 2022
SETD1A2Jan 10, 2022
SETD258Jul 28, 2022
SETD51Jan 10, 2022
SETX8Jan 10, 2022
SFRP44Jan 10, 2022
SFTPA24Jan 10, 2022
SFTPB4Jan 10, 2022
SFTPC3Jan 10, 2022
SFXN46Jan 10, 2022
SGCA19Sep 1, 2021
SGCB4Jan 10, 2022
SGCD1Jan 10, 2022
SGCE2Jan 10, 2022
SGCG12Jan 10, 2022
SGPL14Jan 10, 2022
SGSH182Dec 29, 2021
SH2D2A3Jul 17, 2021
SH3BP25Jan 10, 2022
SH3GL11Jan 10, 2022
SH3PXD2B6Jan 10, 2022
SH3TC210Jan 10, 2022
SHANK32Jan 10, 2022
SHH3Jan 10, 2022
SHOC21Jan 10, 2022
SHROOM44Jan 10, 2022
SI10Jan 10, 2022
SIGMAR12Jan 10, 2022
SIK111Jan 10, 2022
SIK34Jan 10, 2022
SIL11Jan 10, 2022
SIN3A2Jan 10, 2022
SIPA1L32Jan 10, 2022
SIX12Jan 10, 2022
SIX31Jan 10, 2022
SIX53Jan 10, 2022
SIX61Jan 10, 2022
SKI2Aug 2, 2021
SKIC25Jan 10, 2022
SKIC33Mar 2, 2022
SLA2Feb 21, 2022
SLC10A22Jan 10, 2022
SLC10A71Jan 10, 2022
SLC11A23Jan 10, 2022
SLC12A12Jan 10, 2022
SLC12A3121Jan 10, 2022
SLC12A53Jan 10, 2022
SLC12A5-AS15Nov 10, 2021
SLC12A662Jan 10, 2022
SLC12A92Sep 11, 2021
SLC13A32Jan 10, 2022
SLC13A551Jan 10, 2022
SLC16A16Jan 10, 2022
SLC16A22Jan 10, 2022
SLC17A559Nov 24, 2021
SLC17A82Jan 10, 2022
SLC18A24Jan 10, 2022
SLC18A2-AS11Jan 10, 2022
SLC18A31Jan 10, 2022
SLC19A16Sep 1, 2021
SLC19A21Jan 10, 2022
SLC19A31Jan 10, 2022
SLC1A11Jan 10, 2022
SLC1A26Jan 10, 2022
SLC1A39Jan 10, 2022
SLC1A41Jan 10, 2022
SLC22A126Jan 10, 2022
SLC22A5147Jan 10, 2022
SLC24A11Jan 10, 2022
SLC25A122Jan 10, 2022
SLC25A1311Aug 23, 2021
SLC25A154Jul 20, 2021
SLC25A198Jan 10, 2022
SLC25A201Jan 10, 2022
SLC25A213Jan 10, 2022
SLC25A242Jan 10, 2022
SLC25A264Jan 10, 2022
SLC25A383Jan 10, 2022
SLC26A17Jan 10, 2022
SLC26A114Dec 29, 2021
SLC26A229Sep 1, 2021
SLC26A31Jan 12, 2022
SLC26A4240Nov 24, 2021
SLC26A4-AS127Nov 24, 2021
SLC26A52Jan 12, 2022
SLC26A5-AS13Dec 15, 2021
SLC29A37Jan 12, 2022
SLC2A18Jan 12, 2022
SLC2A101Jan 12, 2022
SLC2A21Jan 12, 2022
SLC2A98Jan 12, 2022
SLC2A9-AS13Jan 12, 2022
SLC30A96Jan 12, 2022
SLC33A12Jan 12, 2022
SLC34A111Jan 12, 2022
SLC34A24Jan 12, 2022
SLC34A31Jan 12, 2022
SLC35A12Jan 12, 2022
SLC35A32Jul 31, 2021
SLC35C12Jan 12, 2022
SLC35D12Jan 12, 2022
SLC36A112Sep 21, 2021
SLC36A23Jan 12, 2022
SLC37A421Aug 23, 2021
SLC38A81Jan 12, 2022
SLC39A132Jan 12, 2022
SLC39A148Jan 12, 2022
SLC39A412Aug 23, 2021
SLC39A52Jan 12, 2022
SLC39A82Jan 12, 2022
SLC3A14Jan 12, 2022
SLC40A13Jan 12, 2022
SLC44A47Jan 12, 2022
SLC45A13Jan 12, 2022
SLC45A28Jan 12, 2022
SLC4A1149Jan 12, 2022
SLC4A44Jan 12, 2022
SLC52A14Jan 12, 2022
SLC52A21Jan 12, 2022
SLC52A316Aug 2, 2021
SLC5A11Jan 12, 2022
SLC5A53Jan 12, 2022
SLC5A72Jan 12, 2022
SLC6A172Jan 12, 2022
SLC6A17-AS12Jan 12, 2022
SLC6A1910Jan 12, 2022
SLC6A204Jan 12, 2022
SLC6A33Jan 12, 2022
SLC6A58Jan 12, 2022
SLC6A83Jan 12, 2022
SLC7A142Jan 12, 2022
SLC7A14-AS12Jan 12, 2022
SLC7A742Dec 29, 2021
SLC7A91Jan 12, 2022
SLC9A13Jan 12, 2022
SLC9A39Jan 12, 2022
SLC9A3-AS14Jan 12, 2022
SLC9A61Jan 12, 2022
SLC9A73Jan 12, 2022
SLCO1B14Jan 12, 2022
SLCO1B35Jan 12, 2022
SLCO1B3-SLCO1B75Jan 12, 2022
SLCO2A14Jan 12, 2022
SLFN147Jan 12, 2022
SLITRK61Jan 12, 2022
SLX43Jan 12, 2022
SMAD31Jan 12, 2022
SMAD61Jan 12, 2022
SMARCA210Jan 12, 2022
SMARCA4604Jan 12, 2022
SMARCAD112Jan 12, 2022
SMARCAL111Jan 12, 2022
SMARCC21Jan 12, 2022
SMARCD11Jan 12, 2022
SMC1A2Jan 12, 2022
SMC32Jan 12, 2022
SMCHD113Jan 12, 2022
SMG91Jan 12, 2022
SMO4Jan 12, 2022
SMOC16Jan 12, 2022
SMPD125Jan 12, 2022
SMPD44Jan 12, 2022
SMS2Jan 12, 2022
SNAP251Jan 12, 2022
SNAP292Jan 12, 2022
SNCB1Jan 12, 2022
SNHG221Nov 17, 2021
SNHG316Aug 2, 2021
SNIP12Jan 12, 2022
SNRNP2003Jan 12, 2022
SNTA11Jan 12, 2022
SNX101Jan 12, 2022
SNX221Dec 8, 2021
SOBP1Jan 12, 2022
SON9Jan 12, 2022
SORD3Jan 12, 2022
SOS12Jan 12, 2022
SOS27Jan 12, 2022
SOX103Jan 12, 2022
SOX31Jan 12, 2022
SOX52Jan 12, 2022
SOX92Jan 12, 2022
SP1107Jan 12, 2022
SP1405Jan 12, 2022
SP72Jan 12, 2022
SPAG14Jan 12, 2022
SPARC3Jan 12, 2022
SPATA161Jan 12, 2022
SPATA2232Dec 15, 2021
SPATA52Jan 12, 2022
SPATA6L1Jan 10, 2022
SPATA72Jan 12, 2022
SPECC1L9Jan 12, 2022
SPECC1L-ADORA2A9Jan 12, 2022
SPEF29Jan 12, 2022
SPEG9Jan 12, 2022
SPEN2Jan 12, 2022
SPG111Aug 30, 2021
SPG211Jan 12, 2022
SPG79Jan 12, 2022
SPINK527Jan 12, 2022
SPNS26Jan 12, 2022
SPRED14Jan 12, 2022
SPRTN2Jan 12, 2022
SPTA166Jan 12, 2022
SPTAN1228Jan 12, 2022
SPTB16Jan 12, 2022
SPTBN28Jan 12, 2022
SPTBN411Jan 12, 2022
SPTLC25Jan 12, 2022
SQSTM112Jan 12, 2022
SRCAP6Jan 12, 2022
SRD5A23Jan 12, 2022
SRP723Jan 12, 2022
SRPX21Jan 12, 2022
ST146Jan 12, 2022
ST3GAL34Jan 12, 2022
STAC31Jan 12, 2022
STAG11Jan 12, 2022
STAG23Jan 12, 2022
STAG312Jan 12, 2022
STAMBP2Jan 12, 2022
STAR4Jan 12, 2022
STAT13Jan 12, 2022
STAT34Jan 12, 2022
STEEP12Sep 11, 2021
STIL1Jan 12, 2022
STIM19Jan 12, 2022
STING12Feb 21, 2022
STK11505Jan 12, 2022
STK42Jan 25, 2022
STN13Dec 4, 2021
STRADA1Jan 25, 2022
STRC1Jan 25, 2022
STT3A3Jan 25, 2022
STUB12Aug 2, 2021
STX161Jan 25, 2022
STX16-NPEPL11Jan 25, 2022
STX1B3Jan 25, 2022
STXBP27Jan 25, 2022
SUCLA23Jan 25, 2022
SUFU6Jan 25, 2022
SULT2B12Jan 25, 2022
SUMF120Jan 25, 2022
SUOX1Jan 25, 2022
SUV39H22Sep 11, 2021
SYCE22Jun 16, 2021
SYN12Jan 25, 2022
SYN31Feb 21, 2022
SYNE193Jan 25, 2022
SYNE224Jan 25, 2022
SYNE42Jan 25, 2022
SYNGAP12Jan 25, 2022
SYNGAP1-AS12Jan 25, 2022
SYNJ16Jan 25, 2022
SYT12Jan 25, 2022
SYT141Jan 25, 2022
SYT26Jan 25, 2022
SZT24Jan 25, 2022
TAF1C1Sep 11, 2021
TAF210Jan 25, 2022
TAF66Jan 25, 2022
TAP12Jan 25, 2022
TAP26Jan 25, 2022
TAPBP3Jan 25, 2022
TAPBPL6May 15, 2022
TAPT11Jan 25, 2022
TARDBP1Jan 25, 2022
TARID2Sep 21, 2021
TARS13Jan 25, 2022
TARS21Jan 25, 2022
TAT1Jan 25, 2022
TBC1D203Aug 2, 2021
TBC1D232Jan 25, 2022
TBC1D72Jan 25, 2022
TBC1D7-LOC1001303572Jan 25, 2022
TBC1D8B1Jan 25, 2022
TBCD12Jan 25, 2022
TBCEL-TECTA18Feb 21, 2022
TBCK1Jan 25, 2022
TBK12Jan 25, 2022
TBL1X4Jan 25, 2022
TBL1XR12Jan 25, 2022
TBR11Jan 25, 2022
TBX151Jan 25, 2022
TBX181Jan 25, 2022
TBX192Jan 25, 2022
TBX25Jan 25, 2022
TBX203Jan 25, 2022
TBX211Jan 25, 2022
TBX31Jan 25, 2022
TBX42Jan 25, 2022
TBX51Jan 25, 2022
TBX61Jan 25, 2022
TBXT1Jan 25, 2022
TCAP2Jan 25, 2022
TCF32Aug 2, 2021
TCF46Jan 25, 2022
TCIRG18Jan 25, 2022
TCN23Jan 25, 2022
TCTN26Jan 25, 2022
TCTN34Jan 25, 2022
TDRD72Jan 25, 2022
TEAD11Feb 21, 2022
TECPR211Jul 20, 2021
TECTA18Feb 21, 2022
TEK14Feb 21, 2022
TELO28Aug 2, 2021
TENM35Feb 21, 2022
TENM43Feb 21, 2022
TERT4Feb 21, 2022
TET33Feb 21, 2022
TEX121Nov 10, 2021
TFAP2A1Feb 21, 2022
TFAP2B2Feb 21, 2022
TFG2Feb 21, 2022
TFR22Aug 23, 2021
TFRC8Feb 21, 2022
TG17Feb 21, 2022
TGFB14Feb 21, 2022
TGFBR11Feb 21, 2022
TGFBR21Feb 21, 2022
TGM14Feb 21, 2022
TGM51Feb 21, 2022
TGM68Feb 21, 2022
TH22Sep 1, 2021
THG1L2Feb 21, 2022
THOC25Feb 21, 2022
THOC62Feb 21, 2022
THPO1Feb 21, 2022
THTPA4May 15, 2022
TIMM221Feb 21, 2022
TIMM504Feb 21, 2022
TIMMDC11Feb 21, 2022
TIMP31Feb 21, 2022
TJP214Feb 21, 2022
TK26Feb 21, 2022
TKFC5Sep 11, 2021
TKT6Feb 21, 2022
TLK21Feb 21, 2022
TM4SF19-DYNLT2B1Jan 25, 2022
TMC13Feb 21, 2022
TMC61Feb 21, 2022
TMC85Feb 21, 2022
TMCO11Feb 21, 2022
TMEM106B4Feb 21, 2022
TMEM1074Feb 21, 2022
TMEM132E2Feb 21, 2022
TMEM1653Feb 21, 2022
TMEM2168Feb 21, 2022
TMEM2371Feb 21, 2022
TMEM2604Feb 21, 2022
TMEM2721Aug 9, 2021
TMEM438May 15, 2022
TMEM63A3Feb 21, 2022
TMEM678Feb 21, 2022
TMEM702Feb 21, 2022
TMEM942Oct 18, 2021
TMIE1Feb 21, 2022
TMPPE8Sep 21, 2021
TMPRSS35Feb 21, 2022
TMPRSS69Feb 21, 2022
TMX2-CTNND11Sep 11, 2021
TNC49Jul 28, 2022
TNFAIP32Feb 21, 2022
TNFRSF11A2Feb 21, 2022
TNFRSF11B2Feb 21, 2022
TNFRSF13B3Feb 21, 2022
TNFRSF42Feb 21, 2022
TNFSF111Feb 21, 2022
TNIK7Feb 21, 2022
TNNI22Aug 2, 2021
TNNI36Feb 21, 2022
TNNI3K2Feb 21, 2022
TNNT11Feb 21, 2022
TNNT212Feb 21, 2022
TNNT36Aug 2, 2021
TNPO33Feb 21, 2022
TNRC6A6Feb 21, 2022
TNXB18Feb 21, 2022
TONSL12Feb 21, 2022
TONSL-AS14Feb 21, 2022
TOP3A12Feb 21, 2022
TOPORS1Feb 21, 2022
TOR1AIP13Feb 21, 2022
TP532Aug 24, 2021
TP53RK1Aug 30, 2021
TPM14Feb 21, 2022
TPM32Feb 21, 2022
TPP117Aug 23, 2021
TPRKB1Feb 21, 2022
TRAF3IP11Feb 21, 2022
TRAF3IP21Feb 21, 2022
TRAF3IP2-AS11Feb 21, 2022
TRAIP2Feb 21, 2022
TRAK19Feb 21, 2022
TRAPPC115Feb 21, 2022
TRAPPC125Feb 21, 2022
TRAPPC12-AS11Feb 21, 2022
TRAPPC141Aug 10, 2021
TRAPPC2L4Jun 7, 2022
TRAPPC6B2Feb 21, 2022
TRAPPC97Feb 21, 2022
TRB1Dec 8, 2021
TRDN8Feb 21, 2022
TRH3Feb 21, 2022
TRIM142Nov 17, 2021
TRIM23Feb 21, 2022
TRIM362Feb 21, 2022
TRIM371Feb 21, 2022
TRIM442Feb 21, 2022
TRIO26Feb 21, 2022
TRIOBP12Feb 21, 2022
TRIP116Feb 21, 2022
TRIP125Feb 21, 2022
TRIP134Feb 21, 2022
TRIP44Feb 21, 2022
TRIT11Feb 21, 2022
TRMT11Feb 21, 2022
TRMU2Jul 31, 2021
TRNT18Feb 21, 2022
TRPA110Feb 21, 2022
TRPC31Feb 21, 2022
TRPC62Feb 21, 2022
TRPM18Feb 21, 2022
TRPM46Feb 21, 2022
TRPM67Feb 21, 2022
TRPS12Feb 21, 2022
TRPV318Feb 21, 2022
TRRAP4Feb 21, 2022
TSC1585Dec 22, 2021
TSC21641Dec 22, 2021
TSEN5421Mar 2, 2022
TSFM5Sep 1, 2021
TSHB1Mar 2, 2022
TSHR18Mar 2, 2022
TSHZ14Mar 2, 2022
TSPAN167Dec 8, 2021
TSPAN123Mar 2, 2022
TSPAN71Mar 2, 2022
TSR22Sep 21, 2021
TSTD36May 15, 2022
TTBK21Mar 2, 2022
TTC124Mar 2, 2022
TTC192Mar 2, 2022
TTC21B6Mar 2, 2022
TTC21B-AS12Mar 2, 2022
TTC7A5Mar 2, 2022
TTI23Mar 2, 2022
TTLL52Mar 2, 2022
TTN2540Mar 2, 2022
TTN-AS11148Mar 2, 2022
TTPA2May 15, 2022
TUB6May 15, 2022
TUBA1A2May 15, 2022
TUBB2A1May 15, 2022
TUBB4A2May 15, 2022
TUBB68May 15, 2022
TUBB812Jul 31, 2021
TUBG11May 15, 2022
TUBGCP26May 15, 2022
TUBGCP42May 15, 2022
TUBGCP66May 15, 2022
TUFM3May 15, 2022
TULP110May 15, 2022
TXN21May 15, 2022
TXNRD25May 15, 2022
TYK25May 15, 2022
TYMP11May 15, 2022
TYR74Nov 24, 2021
TYRP12May 15, 2022
UBA14May 15, 2022
UBA52May 15, 2022
UBE2T1May 15, 2022
UBE3B1May 15, 2022
UBR14May 15, 2022
UCHL12May 15, 2022
UFM11May 15, 2022
UFSP24May 15, 2022
UGP21May 15, 2022
UMOD2May 15, 2022
UMPS3May 15, 2022
UNC13D7May 15, 2022
UNC45B2May 15, 2022
UNC806May 15, 2022
UPF3B1May 15, 2022
UQCC31Aug 10, 2021
UQCRB1May 15, 2022
UQCRC21May 15, 2022
UQCRFS12May 15, 2022
UROC14May 15, 2022
UROS2May 15, 2022
USB11May 15, 2022
USH1C78May 15, 2022
USH2A151May 15, 2022
USH2A-AS117Sep 1, 2021
USH2A-AS212May 15, 2022
USP456May 15, 2022
USP9X2May 15, 2022
VAC146May 15, 2022
VAC14-AS12May 15, 2022
VAMP16May 15, 2022
VAMP21May 15, 2022
VANGL11May 15, 2022
VANGL21May 15, 2022
VAPB4May 15, 2022
VARS27May 15, 2022
VCAN11May 15, 2022
VCAN-AS17May 15, 2022
VCL4May 15, 2022
VCP14May 15, 2022
VDR3May 15, 2022
VIM1May 15, 2022
VIM-AS11May 15, 2022
VLDLR8May 15, 2022
VLDLR-AS12May 15, 2022
VMA211May 15, 2022
VPS1110May 15, 2022
VPS13A38May 15, 2022
VPS13B48Sep 1, 2021
VPS13C9May 15, 2022
VPS13D1May 15, 2022
VPS33A2May 15, 2022
VPS33B2May 15, 2022
VPS351Dec 4, 2021
VPS37A3May 15, 2022
VPS5316May 15, 2022
VRK14Jul 20, 2021
VRK21Sep 21, 2021
VSX11May 15, 2022
VSX26Jul 20, 2021
VWA3B4May 15, 2022
VWF180May 15, 2022
WARS13May 15, 2022
WASHC41Oct 18, 2021
WBP24May 15, 2022
WDFY32May 15, 2022
WDPCP4May 15, 2022
WDR119May 15, 2022
WDR1984May 15, 2022
WDR262May 15, 2022
WDR3512May 15, 2022
WDR365May 15, 2022
WDR371Aug 2, 2021
WDR410May 15, 2022
WDR451May 15, 2022
WDR45B2May 15, 2022
WDR6246May 15, 2022
WDR728May 15, 2022
WDR732May 15, 2022
WDR8116Aug 2, 2021
WHRN11Sep 11, 2021
WIPF11May 15, 2022
WNK118Aug 2, 2021
WNT10A5Sep 1, 2021
WNT10B2May 15, 2022
WNT7A2May 15, 2022
WRN39May 15, 2022
WT190May 15, 2022
WWOX76May 15, 2022
XDH37May 15, 2022
XIAP2May 15, 2022
XPC34May 15, 2022
XRCC14May 15, 2022
XRCC41May 15, 2022
XYLT115May 15, 2022
XYLT28May 15, 2022
YAP11May 15, 2022
YARS216May 15, 2022
YEATS26May 15, 2022
YME1L16May 15, 2022
ZBTB111May 15, 2022
ZBTB422May 15, 2022
ZC3H12C1Aug 15, 2021
ZC3H141May 15, 2022
ZCCHC82May 15, 2022
ZDHHC246Aug 9, 2021
ZDHHC91May 15, 2022
ZEB2128Dec 29, 2021
ZFHX24May 15, 2022
ZFHX42May 15, 2022
ZFP571May 15, 2022
ZFPM22May 15, 2022
ZFYVE2640May 15, 2022
ZFYVE2716May 15, 2022
ZIC21Aug 30, 2021
ZMIZ11May 15, 2022
ZMYND114Aug 2, 2021
ZNF1411Aug 2, 2021
ZNF1422May 15, 2022
ZNF1482May 15, 2022
ZNF2768Aug 30, 2021
ZNF33531May 15, 2022
ZNF3411May 15, 2022
ZNF341-AS11May 15, 2022
ZNF42325May 15, 2022
ZNF4547Sep 21, 2021
ZNF4625May 15, 2022
ZNF469107May 15, 2022
ZNF6273Aug 4, 2021

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria9Sep 11, 2021
3 beta-Hydroxysteroid dehydrogenase deficiency2Aug 30, 2021
3-Methylglutaconic aciduria type 34Jun 20, 2021
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3Jan 12, 2022
3-methylcrotonyl-CoA carboxylase 1 deficiency10Nov 10, 2021
3-methylcrotonyl-CoA carboxylase 2 deficiency8Nov 10, 2021
3-methylglutaconic aciduria type 11Aug 9, 2021
3-methylglutaconic aciduria type 94Feb 21, 2022
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome43Jul 28, 2022
3M syndrome 12Sep 11, 2021
3M syndrome 221Dec 4, 2021
3MC syndrome 11Nov 10, 2021
46,XX ovarian dysgenesis-short stature syndrome1Nov 10, 2021
46,XY sex reversal 91May 15, 2022
5-Oxoprolinase deficiency1Dec 4, 2021
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency25Nov 24, 2021
ABCD syndrome1Sep 11, 2021
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder23Jun 7, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome56Jun 7, 2022
AICA-ribosiduria8Aug 9, 2021
ALDH18A1-related de Barsy syndrome7Aug 4, 2021
ALG1-CDG10Aug 4, 2021
ALG8 congenital disorder of glycosylation6Aug 4, 2021
ALG9 congenital disorder of glycosylation2Aug 4, 2021
Aarskog syndrome2Sep 21, 2021
Abetalipoproteinaemia15Nov 10, 2021
Abortive cerebellar ataxia4Dec 4, 2021
Acetyl-CoA: carboxylase deficiency1May 19, 2021
Achondrogenesis, type IA3Feb 21, 2022
Achondrogenesis, type IB8Sep 1, 2021
Achromatopsia 311Aug 11, 2021
Achromatopsia 42Sep 21, 2021
Achromatopsia 76Aug 9, 2021
Acne inversa, familial, 21Dec 8, 2021
Acne inversa, familial, 31Dec 8, 2021
Acral peeling skin syndrome1Feb 21, 2022
Acrocallosal syndrome12Oct 18, 2021
Acrocapitofemoral dysplasia3Oct 12, 2021
Acrodysostosis 1 with or without hormone resistance4Dec 8, 2021
Acrodysostosis 2 with or without hormone resistance5Dec 4, 2021
Acrofacial dysostosis Cincinnati type7Dec 8, 2021
Acrokeratosis verruciformis of Hopf17Jun 25, 2022
Acroosteolysis-keloid-like lesions-premature aging syndrome5Dec 4, 2021
Actin accumulation myopathy1Aug 4, 2021
Action myoclonus-renal failure syndrome1Dec 15, 2021
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2Jul 31, 2021
Acute intermittent porphyria1Sep 21, 2021
Acute myeloid leukemia1Jan 10, 2022
Acyl-CoA dehydrogenase 9 deficiency14Aug 11, 2021
Acyl-CoA oxidase deficiency7Aug 11, 2021
Adams-Oliver syndrome 130Jun 25, 2022
Adams-Oliver syndrome 29Sep 11, 2021
Adams-Oliver syndrome 44Sep 11, 2021
Adams-Oliver syndrome 5586Jul 28, 2022
Adenosine kinase deficiency1Aug 4, 2021
Adenylosuccinate lyase deficiency1May 19, 2021
Adermatoglyphia4Jan 12, 2022
Adrenocortical carcinoma, hereditary1Apr 28, 2021
Adrenoleukodystrophy129Dec 29, 2021
Adult hypophosphatasia20Aug 11, 2021
Adult polyglucosan body disease9Sep 21, 2021
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency1Sep 11, 2021
Adult-onset proximal spinal muscular atrophy, autosomal dominant2May 15, 2022
Agammaglobulinemia 4, autosomal recessive3Aug 9, 2021
Agammaglobulinemia 5, autosomal dominant2Oct 18, 2021
Agammaglobulinemia 7, autosomal recessive3Dec 4, 2021
Agammaglobulinemia 8, autosomal dominant2Aug 2, 2021
Age related macular degeneration 217Aug 4, 2021
Age related macular degeneration 47Aug 23, 2021
Age related macular degeneration 923Aug 10, 2021
Agenesis of the corpus callosum with peripheral neuropathy62Jan 10, 2022
Aicardi-Goutieres syndrome 52Jul 28, 2021
Aicardi-Goutieres syndrome 65Aug 4, 2021
Aicardi-Goutieres syndrome 72Sep 21, 2021
Al Kaissi syndrome2Aug 10, 2021
Al-Raqad syndrome2Sep 11, 2021
Alacrima, achalasia, and intellectual disability syndrome2Sep 21, 2021
Alagille syndrome due to a JAG1 point mutation5Oct 18, 2021
Alagille syndrome due to a NOTCH2 point mutation3Nov 24, 2021
Alazami-Yuan syndrome6Jan 25, 2022
Aldosterone-producing adenoma with seizures and neurological abnormalities11Aug 10, 2021
Alkaptonuria2Sep 21, 2021
Alkuraya-Kucinskas syndrome4Oct 18, 2021
Allan-Herndon-Dudley syndrome2Jan 10, 2022
Alopecia universalis congenita3Sep 21, 2021
Alopecia-intellectual disability syndrome 13Aug 4, 2021
Alopecia-intellectual disability syndrome 46Nov 10, 2021
Alpha thalassemia-X-linked intellectual disability syndrome6Aug 11, 2021
Alpha-N-acetylgalactosaminidase deficiency type 12Nov 17, 2021
Alpha-N-acetylgalactosaminidase deficiency type 22Nov 17, 2021
Alpha-methylacyl-CoA racemase deficiency6Aug 4, 2021
Alstrom syndrome43Aug 30, 2021
Alternating hemiplegia of childhood 168Jun 25, 2022
Alternating hemiplegia of childhood 251Jun 25, 2022
Alzheimer disease 31Dec 8, 2021
Alzheimer disease 48Dec 8, 2021
Amelocerebrohypohidrotic syndrome1Dec 15, 2021
Amelogenesis imperfecta hypomaturation type 2A21Nov 10, 2021
Amelogenesis imperfecta hypomaturation type 2A38May 15, 2022
Amelogenesis imperfecta type 1A23Jul 17, 2021
Amelogenesis imperfecta type 1G2Sep 21, 2021
Amelogenesis imperfecta type 1H1Oct 18, 2021
Amelogenesis imperfecta, hypocalcification type3Sep 21, 2021
Amish lethal microcephaly4Jan 10, 2022
Amyloidosis, primary localized cutaneous, 24Oct 18, 2021
Amyotrophic lateral sclerosis type 101Jan 25, 2022
Amyotrophic lateral sclerosis type 116Sep 21, 2021
Amyotrophic lateral sclerosis type 161Jan 10, 2022
Amyotrophic lateral sclerosis type 181Dec 4, 2021
Amyotrophic lateral sclerosis type 193Sep 11, 2021
Amyotrophic lateral sclerosis type 2, juvenile10Aug 4, 2021
Amyotrophic lateral sclerosis type 44Jan 10, 2022
Amyotrophic lateral sclerosis type 82May 15, 2022
Amyotrophic neuralgia37May 15, 2022
Anauxetic dysplasia 21Dec 8, 2021
Anauxetic dysplasia 32Aug 10, 2021
Androgen resistance syndrome1May 19, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Aug 30, 2021
Anencephaly 12Feb 21, 2022
Aneurysm-osteoarthritis syndrome1Jan 12, 2022
Angioedema, hereditary, 47Dec 8, 2021
Aniridia 21Sep 11, 2021
Aniridia 32Feb 21, 2022
Annular epidermolytic ichthyosis1Oct 18, 2021
Anterior segment dysgenesis 11Dec 4, 2021
Anterior segment dysgenesis 31Sep 21, 2021
Anterior segment dysgenesis 66Sep 11, 2021
Anterior segment dysgenesis 712Dec 15, 2021
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis6Dec 8, 2021
Aortic aneurysm, familial thoracic 412Nov 10, 2021
Aortic aneurysm, familial thoracic 76Nov 17, 2021
Aortic aneurysm, familial thoracic 83Dec 8, 2021
Aortic aneurysm, familial thoracic 91Nov 10, 2021
Aortic valve disease 1586Jul 28, 2022
Aortic valve disease 21Jan 12, 2022
Apparent mineralocorticoid excess2Sep 21, 2021
Arginase deficiency1Aug 9, 2021
Arginine:glycine amidinotransferase deficiency2Sep 21, 2021
Argininosuccinate lyase deficiency17Aug 30, 2021
Ariboflavinosis4Jan 12, 2022
Aromatase excess syndrome2Jul 13, 2021
Arrhinia with choanal atresia and microphthalmia syndrome13Jan 12, 2022
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma8Sep 11, 2021
Arrhythmogenic right ventricular dysplasia 125Oct 18, 2021
Arrhythmogenic right ventricular dysplasia 223Dec 15, 2021
Arrhythmogenic right ventricular dysplasia 53Feb 21, 2022
Arrhythmogenic right ventricular dysplasia 91Dec 4, 2021
Arterial calcification, generalized, of infancy, 12Sep 11, 2021
Arterial calcification, generalized, of infancy, 257Jun 7, 2022
Arterial tortuosity syndrome1Jan 12, 2022
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect8Oct 18, 2021
Arthrogryposis multiplex congenita 3, myogenic type31Jan 25, 2022
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum3Jan 10, 2022
Arthrogryposis multiplex congenita 663Aug 20, 2021
Arthrogryposis, Perthes disease, and upward gaze palsy3Nov 24, 2021
Arthrogryposis, distal, type 1B9Nov 10, 2021
Arthrogryposis, distal, type 2B26Aug 2, 2021
Arthrogryposis, distal, type 2B322Nov 17, 2021
Arthrogryposis, distal, with impaired proprioception and touch24Dec 4, 2021
Arthrogryposis, renal dysfunction, and cholestasis 12May 15, 2022
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome24Dec 4, 2021
Arts syndrome1Dec 8, 2021
Aspartylglucosaminuria9Aug 11, 2021
Asphyxiating thoracic dystrophy 314Sep 11, 2021
Asphyxiating thoracic dystrophy 46Mar 2, 2022
Asphyxiating thoracic dystrophy 521May 15, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome20Oct 18, 2021
Ataxia - oculomotor apraxia type 41Dec 8, 2021
Ataxia with oculomotor apraxia type 311Dec 4, 2021
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia3Aug 9, 2021
Ataxia-hypogonadism-choroidal dystrophy syndrome13Dec 8, 2021
Ataxia-telangiectasia syndrome47Aug 30, 2021
Atelosteogenesis type II7Sep 1, 2021
Atrial conduction disease2Feb 21, 2022
Atrial fibrillation, familial, 141Jan 10, 2022
Atrial fibrillation, familial, 151Dec 4, 2021
Atrial fibrillation, familial, 71Oct 18, 2021
Atrial septal defect 43Jan 25, 2022
Atrichia with papular lesions3Sep 21, 2021
Atypical hemolytic-uremic syndrome with B factor anomaly2Aug 23, 2021
Auditory neuropathy-optic atrophy syndrome1Sep 21, 2021
Aural atresia, congenital4Mar 2, 2022
Auriculocondylar syndrome 24Dec 4, 2021
Auriculocondylar syndrome 32Sep 11, 2021
Autism spectrum disorder - epilepsy - arthrogryposis syndrome2Jul 31, 2021
Autism, susceptibility to, 51Jan 25, 2022
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1Jan 12, 2022
Autoimmune lymphoproliferative syndrome type 12Sep 21, 2021
Autoimmune lymphoproliferative syndrome type 2A2Aug 10, 2021
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD6Dec 8, 2021
Autoinflammation with arthritis and dyskeratosis3Nov 24, 2021
Autoinflammation with episodic fever and lymphadenopathy1Dec 15, 2021
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation13Dec 8, 2021
Autoinflammatory syndrome, familial, Behcet-like2Feb 21, 2022
Autosomal dominant Alport syndrome15Sep 11, 2021
Autosomal dominant Opitz G/BBB syndrome3Jan 12, 2022
Autosomal dominant Robinow syndrome 25Aug 2, 2021
Autosomal dominant aplasia and myelodysplasia3Jan 12, 2022
Autosomal dominant auditory neuropathy 12Sep 11, 2021
Autosomal dominant centronuclear myopathy1Sep 11, 2021
Autosomal dominant cerebellar ataxia, deafness and narcolepsy6Sep 11, 2021
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Aug 9, 2021
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures10Sep 11, 2021
Autosomal dominant deafness - onychodystrophy syndrome1Aug 9, 2021
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome10Sep 1, 2021
Autosomal dominant hypocalcemia 15Aug 10, 2021
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1Aug 15, 2021
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Sep 11, 2021
Autosomal dominant limb-girdle muscular dystrophy type 1F3Feb 21, 2022
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1Sep 21, 2021
Autosomal dominant mitochondrial myopathy with exercise intolerance4Aug 23, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 19Aug 23, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 42Aug 23, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 5307Jul 28, 2022
Autosomal dominant nonsyndromic hearing loss 11Sep 11, 2021
Autosomal dominant nonsyndromic hearing loss 103Sep 21, 2021
Autosomal dominant nonsyndromic hearing loss 1164Nov 17, 2021
Autosomal dominant nonsyndromic hearing loss 129Feb 21, 2022
Autosomal dominant nonsyndromic hearing loss 1315Sep 1, 2021
Autosomal dominant nonsyndromic hearing loss 177Nov 17, 2021
Autosomal dominant nonsyndromic hearing loss 2054Jun 7, 2022
Autosomal dominant nonsyndromic hearing loss 223Nov 17, 2021
Autosomal dominant nonsyndromic hearing loss 231Jan 10, 2022
Autosomal dominant nonsyndromic hearing loss 252Jan 10, 2022
Autosomal dominant nonsyndromic hearing loss 283Sep 21, 2021
Autosomal dominant nonsyndromic hearing loss 2A4Oct 18, 2021
Autosomal dominant nonsyndromic hearing loss 2B1Sep 21, 2021
Autosomal dominant nonsyndromic hearing loss 361Feb 21, 2022
Autosomal dominant nonsyndromic hearing loss 3A2Dec 4, 2021
Autosomal dominant nonsyndromic hearing loss 402Sep 11, 2021
Autosomal dominant nonsyndromic hearing loss 414Dec 4, 2021
Autosomal dominant nonsyndromic hearing loss 4410Aug 10, 2021
Autosomal dominant nonsyndromic hearing loss 4A15Nov 10, 2021
Autosomal dominant nonsyndromic hearing loss 57Sep 11, 2021
Autosomal dominant nonsyndromic hearing loss 5649Jul 28, 2022
Autosomal dominant nonsyndromic hearing loss 674Dec 4, 2021
Autosomal dominant nonsyndromic hearing loss 72Oct 18, 2021
Autosomal dominant nonsyndromic hearing loss 702Nov 10, 2021
Autosomal dominant nonsyndromic hearing loss 92Sep 1, 2021
Autosomal dominant optic atrophy classic form4Dec 4, 2021
Autosomal dominant osteopetrosis 211Aug 2, 2021
Autosomal dominant popliteal pterygium syndrome3Oct 18, 2021
Autosomal dominant pseudohypoaldosteronism type 14Dec 4, 2021
Autosomal dominant striatal neurodegeneration type 11Dec 4, 2021
Autosomal dominant vitreoretinochoroidopathy5Aug 9, 2021
Autosomal recessive Alport syndrome93Sep 11, 2021
Autosomal recessive DOPA responsive dystonia18Sep 1, 2021
Autosomal recessive Robinow syndrome5Dec 15, 2021
Autosomal recessive amelia1Jan 25, 2022
Autosomal recessive ataxia due to ubiquinone deficiency11Aug 4, 2021
Autosomal recessive ataxia, Beauce type31Jan 25, 2022
Autosomal recessive bestrophinopathy5Aug 9, 2021
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1May 15, 2022
Autosomal recessive complex spastic paraplegia type 9B7Aug 4, 2021
Autosomal recessive congenital ichthyosis 14Feb 21, 2022
Autosomal recessive congenital ichthyosis 106Dec 8, 2021
Autosomal recessive congenital ichthyosis 116Jan 12, 2022
Autosomal recessive congenital ichthyosis 23Aug 4, 2021
Autosomal recessive congenital ichthyosis 35Aug 4, 2021
Autosomal recessive congenital ichthyosis 4A17Aug 2, 2021
Autosomal recessive congenital ichthyosis 4B17Aug 2, 2021
Autosomal recessive congenital ichthyosis 55Sep 11, 2021
Autosomal recessive congenital ichthyosis 62Nov 24, 2021
Autosomal recessive congenital ichthyosis 82Oct 18, 2021
Autosomal recessive congenital ichthyosis 95Aug 23, 2021
Autosomal recessive cutis laxa type 2B2Dec 15, 2021
Autosomal recessive distal renal tubular acidosis7Aug 9, 2021
Autosomal recessive distal spinal muscular atrophy 21Jan 10, 2022
Autosomal recessive early-onset Parkinson disease 239May 15, 2022
Autosomal recessive early-onset Parkinson disease 64Dec 4, 2021
Autosomal recessive hypophosphatemic bone disease1Jan 12, 2022
Autosomal recessive keratitis-ichthyosis-deafness syndrome2Aug 9, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2A25Aug 30, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B40Sep 11, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2D19Sep 1, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2E4Jan 10, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2F1Jan 10, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2G1Jan 25, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I7Aug 15, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2J635Mar 2, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2K14Dec 8, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2L39Jun 25, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2M9Sep 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2N4Dec 8, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2O16Dec 8, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2P2Sep 11, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2Q39Dec 8, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2R12Dec 8, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2T1Sep 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2W1Oct 18, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2X3Aug 10, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2Y3Feb 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type R185Feb 21, 2022
Autosomal recessive lower motor neuron disease with childhood onset5Dec 8, 2021
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency1Dec 15, 2021
Autosomal recessive nonsyndromic hearing loss 1011Sep 21, 2021
Autosomal recessive nonsyndromic hearing loss 1044Sep 21, 2021
Autosomal recessive nonsyndromic hearing loss 12102Aug 30, 2021
Autosomal recessive nonsyndromic hearing loss 151Sep 21, 2021
Autosomal recessive nonsyndromic hearing loss 161Jan 25, 2022
Autosomal recessive nonsyndromic hearing loss 18A39May 15, 2022
Autosomal recessive nonsyndromic hearing loss 18B10Dec 4, 2021
Autosomal recessive nonsyndromic hearing loss 1A8Aug 30, 2021
Autosomal recessive nonsyndromic hearing loss 273Nov 17, 2021
Autosomal recessive nonsyndromic hearing loss 219Feb 21, 2022
Autosomal recessive nonsyndromic hearing loss 225Dec 4, 2021
Autosomal recessive nonsyndromic hearing loss 2329Dec 4, 2021
Autosomal recessive nonsyndromic hearing loss 242Dec 15, 2021
Autosomal recessive nonsyndromic hearing loss 251Sep 21, 2021
Autosomal recessive nonsyndromic hearing loss 2812Feb 21, 2022
Autosomal recessive nonsyndromic hearing loss 292Aug 23, 2021
Autosomal recessive nonsyndromic hearing loss 318Nov 17, 2021
Autosomal recessive nonsyndromic hearing loss 3020Nov 17, 2021
Autosomal recessive nonsyndromic hearing loss 3111Sep 11, 2021
Autosomal recessive nonsyndromic hearing loss 323Aug 10, 2021
Autosomal recessive nonsyndromic hearing loss 351Sep 11, 2021
Autosomal recessive nonsyndromic hearing loss 373Nov 17, 2021
Autosomal recessive nonsyndromic hearing loss 392Sep 21, 2021
Autosomal recessive nonsyndromic hearing loss 4103Nov 24, 2021
Autosomal recessive nonsyndromic hearing loss 422Oct 18, 2021
Autosomal recessive nonsyndromic hearing loss 445Aug 4, 2021
Autosomal recessive nonsyndromic hearing loss 491Nov 10, 2021
Autosomal recessive nonsyndromic hearing loss 5315Sep 1, 2021
Autosomal recessive nonsyndromic hearing loss 592Sep 11, 2021
Autosomal recessive nonsyndromic hearing loss 61Feb 21, 2022
Autosomal recessive nonsyndromic hearing loss 612Jan 12, 2022
Autosomal recessive nonsyndromic hearing loss 664Sep 11, 2021
Autosomal recessive nonsyndromic hearing loss 681Dec 15, 2021
Autosomal recessive nonsyndromic hearing loss 72Feb 21, 2022
Autosomal recessive nonsyndromic hearing loss 706Dec 8, 2021
Autosomal recessive nonsyndromic hearing loss 762Jan 25, 2022
Autosomal recessive nonsyndromic hearing loss 7726Aug 30, 2021
Autosomal recessive nonsyndromic hearing loss 85Feb 21, 2022
Autosomal recessive nonsyndromic hearing loss 84A11Dec 15, 2021
Autosomal recessive nonsyndromic hearing loss 84B5Dec 4, 2021
Autosomal recessive nonsyndromic hearing loss 98Dec 4, 2021
Autosomal recessive nonsyndromic hearing loss 915Jan 10, 2022
Autosomal recessive nonsyndromic hearing loss 931Aug 10, 2021
Autosomal recessive nonsyndromic hearing loss 975Nov 10, 2021
Autosomal recessive omodysplasia1Sep 21, 2021
Autosomal recessive osteopetrosis 18Jan 25, 2022
Autosomal recessive osteopetrosis 21Feb 21, 2022
Autosomal recessive osteopetrosis 411Aug 2, 2021
Autosomal recessive osteopetrosis 71Feb 21, 2022
Autosomal recessive osteopetrosis 81Jan 12, 2022
Autosomal recessive proximal renal tubular acidosis4Jan 12, 2022
Autosomal recessive pseudohypoaldosteronism type 110Jan 10, 2022
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2Sep 11, 2021
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1Oct 18, 2021
Autosomal recessive spastic paraplegia type 767Aug 10, 2021
Autosomal recessive spastic paraplegia type 788Aug 9, 2021
Autosomal recessive spinocerebellar ataxia 105Aug 9, 2021
Autosomal recessive spinocerebellar ataxia 111Jan 25, 2022
Autosomal recessive spinocerebellar ataxia 1238May 15, 2022
Autosomal recessive spinocerebellar ataxia 135Sep 21, 2021
Autosomal recessive spinocerebellar ataxia 144Jan 12, 2022
Autosomal recessive spinocerebellar ataxia 161Aug 2, 2021
Autosomal recessive spinocerebellar ataxia 182Sep 21, 2021
Autosomal recessive spinocerebellar ataxia 22Dec 8, 2021
Autosomal recessive spinocerebellar ataxia 77Aug 23, 2021
Axenfeld-Rieger syndrome type 31Sep 21, 2021
Ayme-Gripp syndrome1Nov 10, 2021
B4GALT1-CDG2Aug 9, 2021
BENTA disease7Aug 10, 2021
BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME5Jan 12, 2022
Bailey-Bloch congenital myopathy1Jan 12, 2022
Baller-Gerold syndrome12Dec 15, 2021
Band heterotopia of brain2Sep 11, 2021
Baraitser-Winter syndrome 125Jun 7, 2022
Baraitser-winter syndrome 254Jun 7, 2022
Bardet-Biedl syndrome 110Aug 11, 2021
Bardet-Biedl syndrome 103Aug 30, 2021
Bardet-Biedl syndrome 128Aug 11, 2021
Bardet-Biedl syndrome 1310Aug 20, 2021
Bardet-Biedl syndrome 1416Aug 23, 2021
Bardet-Biedl syndrome 152May 15, 2022
Bardet-Biedl syndrome 165Jan 10, 2022
Bardet-Biedl syndrome 191Sep 21, 2021
Bardet-Biedl syndrome 213Aug 30, 2021
Bardet-Biedl syndrome 223Sep 21, 2021
Bardet-Biedl syndrome 47Aug 9, 2021
Bardet-Biedl syndrome 51Aug 9, 2021
Bardet-Biedl syndrome 71Aug 9, 2021
Bardet-Biedl syndrome 94Aug 9, 2021
Bartsocas-Papas syndrome11Dec 15, 2021
Bartter disease type 12Jan 10, 2022
Bartter disease type 324Aug 23, 2021
Bartter disease type 4B33Aug 23, 2021
Bartter disease type 4a7Aug 30, 2021
Bartter disease type 54Nov 10, 2021
Basal ganglia calcification, idiopathic, 45Dec 4, 2021
Basal ganglia calcification, idiopathic, 7, autosomal recessive2Oct 18, 2021
Basal laminar drusen7Aug 23, 2021
Basan syndrome4Jan 12, 2022
Beaded hair1May 12, 2021
Beck-Fahrner syndrome3Feb 21, 2022
Beckwith-Wiedemann syndrome1Aug 23, 2021
Benign concentric annular macular dystrophy1Oct 18, 2021
Benign recurrent intrahepatic cholestasis type 217Aug 30, 2021
Beta-D-mannosidosis6Nov 10, 2021
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Sep 21, 2021
Bethlem myopathy 135Sep 11, 2021
Bethlem myopathy 26Sep 1, 2021
Bietti crystalline corneoretinal dystrophy4Sep 11, 2021
Bifunctional peroxisomal enzyme deficiency15Aug 30, 2021
Bilateral frontoparietal polymicrogyria13Aug 11, 2021
Bilateral parasagittal parieto-occipital polymicrogyria6Sep 21, 2021
Bile acid conjugation defect 12Aug 9, 2021
Bile acid malabsorption, primary2Jan 10, 2022
Biotin-responsive basal ganglia disease1Jan 10, 2022
Biotinidase deficiency12Aug 30, 2021
Blepharocheilodontic syndrome 13Aug 10, 2021
Blepharocheilodontic syndrome 21Sep 11, 2021
Blepharophimosis - intellectual disability syndrome, MKB type6Nov 10, 2021
Bloom syndrome27Aug 30, 2021
Blue color blindness1Dec 4, 2021
Bohring-Opitz syndrome54Jun 25, 2022
Bone marrow failure syndrome 47Nov 17, 2021
Borjeson-Forssman-Lehmann syndrome1Dec 4, 2021
Bothnia retinal dystrophy1Dec 15, 2021
Bowen-Conradi syndrome1Sep 11, 2021
Brachycephaly, trichomegaly, and developmental delay1Dec 15, 2021
Brachydactyly type B15Dec 15, 2021
Brachydactyly type D1Sep 21, 2021
Brachydactyly type E11Sep 21, 2021
Brachydactyly type E21Dec 15, 2021
Brachydactyly-arterial hypertension syndrome4Dec 4, 2021
Brachydactyly-elbow wrist dysplasia syndrome1Dec 4, 2021
Brain abnormalities, neurodegeneration, and dysosteosclerosis6Sep 11, 2021
Brain small vessel disease 1 with or without ocular anomalies10Sep 1, 2021
Branchiooculofacial syndrome1Feb 21, 2022
Branchiootic syndrome 15Sep 21, 2021
Branchiootic syndrome 31Jan 10, 2022
Branchiootorenal syndrome 15Sep 21, 2021
Branchiootorenal syndrome 23Jan 10, 2022
Breast-ovarian cancer, familial, susceptibility to, 12Jul 6, 2021
Brittle cornea syndrome 1107May 15, 2022
Brittle cornea syndrome 21Dec 8, 2021
Bronchiectasis with or without elevated sweat chloride 12Jan 10, 2022
Bronchiectasis with or without elevated sweat chloride 22Jan 10, 2022
Bronchiectasis with or without elevated sweat chloride 36Jan 10, 2022
Brooke-Spiegler syndrome1Sep 11, 2021
Brown-Vialetto-van Laere syndrome 18Aug 2, 2021
Brown-Vialetto-van Laere syndrome 21Jan 12, 2022
Bruck syndrome 26Dec 8, 2021
Brugada syndrome 71Jan 10, 2022
Brunner syndrome3Nov 10, 2021
Bullous ichthyosiform erythroderma1Oct 18, 2021
C1Q deficiency1Aug 10, 2021
CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA2Dec 15, 2021
CARASIL syndrome3Sep 21, 2021
CBL-related disorder2Aug 10, 2021
CEDNIK syndrome2Jan 12, 2022
CHARGE association12Jan 10, 2022
CHIME syndrome1Dec 4, 2021
CIDEC-related familial partial lipodystrophy1Aug 23, 2021
CK syndrome2Dec 4, 2021
COACH syndrome 12Feb 21, 2022
CODAS syndrome1Oct 18, 2021
COG1 congenital disorder of glycosylation7Sep 1, 2021
COG4-CDG4Sep 1, 2021
COG5-CDG3Sep 1, 2021
COG6-CGD3Sep 1, 2021
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Dec 8, 2021
Camptomelic dysplasia2Jan 12, 2022
Camptosynpolydactyly, complex1Aug 2, 2021
Candidiasis, familial, 81Feb 21, 2022
Candidiasis, familial, 94Oct 18, 2021
Capillary malformation-arteriovenous malformation 25Sep 11, 2021
Cardiac arrhythmia23Dec 15, 2021
Cardiac arrhythmia, ankyrin-B-related111Jun 7, 2022
Cardiac valvular defect, developmental2Dec 8, 2021
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 15Jan 10, 2022
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 42Sep 1, 2021
Cardiofaciocutaneous syndrome 32Nov 10, 2021
Cardiofaciocutaneous syndrome 43Nov 10, 2021
Cardiomyopathy, dilated, 2E2Oct 18, 2021
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis8Sep 11, 2021
Cardiomyopathy, familial restrictive, 11Feb 21, 2022
Cardiomyopathy, familial restrictive, 34Feb 21, 2022
Carney complex, type 14Dec 8, 2021
Carnitine acylcarnitine translocase deficiency1Jan 10, 2022
Carnitine palmitoyl transferase 1A deficiency19Sep 11, 2021
Carnitine palmitoyl transferase II deficiency, myopathic form2Aug 15, 2021
Carnitine palmitoyl transferase II deficiency, neonatal form7Aug 15, 2021
Carnitine palmitoyl transferase II deficiency, severe infantile form8Aug 30, 2021
Cataract 11 multiple types1Dec 4, 2021
Cataract 12 multiple types3Aug 9, 2021
Cataract 13 with adult I phenotype1Sep 21, 2021
Cataract 14 multiple types1Sep 21, 2021
Cataract 16 multiple types1Sep 11, 2021
Cataract 1813Sep 21, 2021
Cataract 21 multiple types1Nov 10, 2021
Cataract 22 multiple types2Sep 11, 2021
Cataract 232Sep 11, 2021
Cataract 3 multiple types3Sep 11, 2021
Cataract 301May 15, 2022
Cataract 336Aug 9, 2021
Cataract 362Jan 25, 2022
Cataract 39 multiple types2Sep 11, 2021
Cataract 4 multiple types4Sep 11, 2021
Cataract 401Nov 24, 2021
Cataract 431May 15, 2022
Cataract 445Nov 10, 2021
Cataract 452Jan 10, 2022
Cataract 486Sep 11, 2021
Cataract 6 multiple types4Sep 11, 2021
Cataract 9 multiple types1Sep 11, 2021
Catecholaminergic polymorphic ventricular tachycardia 123Dec 15, 2021
Catecholaminergic polymorphic ventricular tachycardia 25Aug 10, 2021
Catecholaminergic polymorphic ventricular tachycardia 42Aug 10, 2021
Catecholaminergic polymorphic ventricular tachycardia 58Feb 21, 2022
Catifa syndrome4Oct 18, 2021
Cayman type cerebellar ataxia1Aug 9, 2021
Cenani-Lenz syndactyly syndrome8Oct 18, 2021
Central core myopathy31Dec 15, 2021
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome4Dec 15, 2021
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 18May 15, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 28Aug 2, 2021
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 34Aug 10, 2021
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 47Aug 9, 2021
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome51Jun 25, 2022
Cerebellar atrophy, developmental delay, and seizures1Oct 18, 2021
Cerebellar atrophy, visual impairment, and psychomotor retardation;7Sep 11, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 119Nov 24, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 23Sep 21, 2021
Cerebrofaciothoracic dysplasia1Feb 21, 2022
Cerebrooculofacioskeletal syndrome 18Sep 11, 2021
Cerebrooculofacioskeletal syndrome 26Sep 11, 2021
Cerebrooculofacioskeletal syndrome 32Sep 11, 2021
Cerebroretinal microangiopathy with calcifications and cysts 197Jan 10, 2022
Cerebroretinal microangiopathy with calcifications and cysts 23Dec 4, 2021
Channelopathy-associated congenital insensitivity to pain, autosomal recessive11Jan 10, 2022
Char syndrome2Feb 21, 2022
Charcot-Marie-Tooth disease X-linked dominant 11Jun 8, 2021
Charcot-Marie-Tooth disease X-linked dominant 61Dec 4, 2021
Charcot-Marie-Tooth disease X-linked recessive 51Dec 8, 2021
Charcot-Marie-Tooth disease axonal type 2CC5Nov 24, 2021
Charcot-Marie-Tooth disease axonal type 2K2Sep 21, 2021
Charcot-Marie-Tooth disease axonal type 2N1Aug 2, 2021
Charcot-Marie-Tooth disease axonal type 2O10Sep 11, 2021
Charcot-Marie-Tooth disease axonal type 2P4Nov 10, 2021
Charcot-Marie-Tooth disease axonal type 2Q9Sep 11, 2021
Charcot-Marie-Tooth disease axonal type 2S9Oct 12, 2021
Charcot-Marie-Tooth disease axonal type 2V4Nov 17, 2021
Charcot-Marie-Tooth disease axonal type 2Z20Jul 28, 2022
Charcot-Marie-Tooth disease dominant intermediate B1Sep 11, 2021
Charcot-Marie-Tooth disease dominant intermediate E6Oct 18, 2021
Charcot-Marie-Tooth disease dominant intermediate F1Sep 21, 2021
Charcot-Marie-Tooth disease recessive intermediate A2Sep 21, 2021
Charcot-Marie-Tooth disease recessive intermediate C5Dec 8, 2021
Charcot-Marie-Tooth disease type 1C1Oct 18, 2021
Charcot-Marie-Tooth disease type 1D1Sep 11, 2021
Charcot-Marie-Tooth disease type 2A14Oct 18, 2021
Charcot-Marie-Tooth disease type 2A21Dec 5, 2021
Charcot-Marie-Tooth disease type 2B21Dec 8, 2021
Charcot-Marie-Tooth disease type 2D3Sep 21, 2021
Charcot-Marie-Tooth disease type 2R3Feb 21, 2022
Charcot-Marie-Tooth disease type 2Y4May 15, 2022
Charcot-Marie-Tooth disease type 4A2Sep 21, 2021
Charcot-Marie-Tooth disease type 4B12Nov 10, 2021
Charcot-Marie-Tooth disease type 4B24Dec 15, 2021
Charcot-Marie-Tooth disease type 4B313Dec 15, 2021
Charcot-Marie-Tooth disease type 4C5Jan 10, 2022
Charcot-Marie-Tooth disease type 4D12Jul 31, 2021
Charcot-Marie-Tooth disease type 4E1Sep 11, 2021
Charcot-Marie-Tooth disease type 4F3Dec 8, 2021
Charcot-Marie-Tooth disease type 4G6Sep 21, 2021
Charcot-Marie-Tooth disease type 4H6Sep 21, 2021
Charcot-Marie-Tooth disease type 4J6Sep 21, 2021
Charcot-Marie-Tooth disease, axonal, type 2EE1Jul 28, 2021
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2Sep 21, 2021
Charcot-Marie-Tooth disease, demyelinating, type 1G1Dec 8, 2021
Charcot-marie-tooth disease, axonal, type 2DD13Jun 25, 2022
Charlevoix-Saguenay spastic ataxia296Nov 24, 2021
Chilblain lupus 22Jul 28, 2021
Child syndrome1Dec 4, 2021
Childhood hypophosphatasia23Aug 30, 2021
Childhood onset GLUT1 deficiency syndrome 22Jan 12, 2022
Cholestanol storage disease1Aug 30, 2021
Cholestasis, intrahepatic, of pregnancy, 110Aug 9, 2021
Cholestasis, intrahepatic, of pregnancy, 35Aug 4, 2021
Cholestasis, progressive familial intrahepatic, 47Feb 21, 2022
Chondrodysplasia Blomstrand type2Dec 15, 2021
Chondrodysplasia punctata 2 X-linked dominant1Sep 11, 2021
Chorea, childhood-onset, with psychomotor retardation1Sep 21, 2021
Chorea-acanthocytosis38May 15, 2022
Choroidal dystrophy, central areolar 25Dec 8, 2021
Choroidal dystrophy, central areolar, 12Sep 21, 2021
Choroideremia1Jul 31, 2021
Christianson syndrome1Jan 12, 2022
Chromosome 1p32-p31 deletion syndrome1Nov 24, 2021
Chromosome 2q32-q33 deletion syndrome2Dec 15, 2021
Chronic infantile neurological, cutaneous and articular syndrome3Nov 24, 2021
Chudley-McCullough syndrome3Sep 21, 2021
Chylomicron retention disease1Dec 15, 2021
Ciliary dyskinesia, primary, 373Sep 11, 2021
Ciliary dyskinesia, primary, 382Aug 10, 2021
Ciliary dyskinesia, primary, 399Oct 18, 2021
Ciliary dyskinesia, primary, 4013Sep 11, 2021
Ciliary dyskinesia, primary, 421Nov 10, 2021
Ciliary dyskinesia, primary, 449Nov 24, 2021
Ciliary dyskinesia, primary, 454Mar 2, 2022
Citrullinemia type I20Aug 30, 2021
Citrullinemia, type II, adult-onset5Aug 23, 2021
Clark-Baraitser syndrome5Feb 21, 2022
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency5Sep 11, 2021
Classic homocystinuria11Aug 30, 2021
Cleft lip/palate-ectodermal dysplasia syndrome1Dec 15, 2021
Clubfoot1Dec 4, 2021
Cobalamin C disease10Dec 8, 2021
Cobblestone lissencephaly without muscular or ocular involvement1Oct 18, 2021
Cockayne syndrome type 11Sep 11, 2021
Cockayne syndrome type 27Sep 11, 2021
Coenzyme Q10 deficiency, primary, 13Sep 11, 2021
Coenzyme Q10 deficiency, primary, 31Dec 4, 2021
Coffin-Lowry syndrome1Dec 15, 2021
Coffin-Siris syndrome 1106Jan 10, 2022
Coffin-Siris syndrome 111Jan 12, 2022
Coffin-Siris syndrome 81Jan 12, 2022
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome16Jun 7, 2022
Cognitive impairment with or without cerebellar ataxia8Jan 10, 2022
Cohen syndrome49Sep 1, 2021
Cohen-Gibson syndrome2Sep 11, 2021
Cole-Carpenter syndrome 24Jan 10, 2022
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Jan 10, 2022
Combined deficiency of sialidase AND beta galactosidase6Sep 11, 2021
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia3Nov 10, 2021
Combined immunodeficiency due to DOCK8 deficiency27Sep 11, 2021
Combined immunodeficiency due to GINS1 deficiency1Sep 21, 2021
Combined immunodeficiency due to LRBA deficiency2Oct 18, 2021
Combined immunodeficiency due to OX40 deficiency2Feb 21, 2022
Combined immunodeficiency due to STIM1 deficiency3Jan 12, 2022
Combined immunodeficiency due to STK4 deficiency2Jan 25, 2022
Combined immunodeficiency with faciooculoskeletal anomalies2Dec 4, 2021
Combined immunodeficiency with skin granulomas6Dec 15, 2021
Combined immunodeficiency, X-linked3Aug 15, 2021
Combined malonic and methylmalonic acidemia37Aug 30, 2021
Combined oxidative phosphorylation defect type 113Dec 15, 2021
Combined oxidative phosphorylation defect type 136Dec 8, 2021
Combined oxidative phosphorylation defect type 141Sep 21, 2021
Combined oxidative phosphorylation defect type 179Sep 11, 2021
Combined oxidative phosphorylation defect type 207May 15, 2022
Combined oxidative phosphorylation defect type 211Jan 25, 2022
Combined oxidative phosphorylation defect type 234Sep 21, 2021
Combined oxidative phosphorylation defect type 242Nov 17, 2021
Combined oxidative phosphorylation defect type 276Aug 10, 2021
Combined oxidative phosphorylation defect type 43May 15, 2022
Combined oxidative phosphorylation defect type 89Aug 2, 2021
Combined oxidative phosphorylation deficiency 191Nov 10, 2021
Combined oxidative phosphorylation deficiency 284Jan 10, 2022
Combined oxidative phosphorylation deficiency 291May 15, 2022
Combined oxidative phosphorylation deficiency 321Aug 2, 2021
Combined oxidative phosphorylation deficiency 343Nov 10, 2021
Combined oxidative phosphorylation deficiency 351Feb 21, 2022
Combined oxidative phosphorylation deficiency 403Dec 15, 2021
Combined oxidative phosphorylation deficiency 412Dec 4, 2021
Combined oxidative phosphorylation deficiency 431Feb 21, 2022
Combined oxidative phosphorylation deficiency 441Sep 21, 2021
Complement component 3 deficiency23Aug 10, 2021
Complement factor b deficiency2Aug 23, 2021
Complex cortical dysplasia with other brain malformations 32Oct 18, 2021
Complex cortical dysplasia with other brain malformations 41May 15, 2022
Complex cortical dysplasia with other brain malformations 51May 15, 2022
Complex lethal osteochondrodysplasia1Jan 25, 2022
Compton-North congenital myopathy1Sep 1, 2021
Cone dystrophy 42Dec 4, 2021
Cone dystrophy with supernormal rod response2Oct 18, 2021
Cone monochromatism2Dec 4, 2021
Cone-rod dystrophy 101Jan 10, 2022
Cone-rod dystrophy 125Dec 8, 2021
Cone-rod dystrophy 1375Dec 29, 2021
Cone-rod dystrophy 156Aug 23, 2021
Cone-rod dystrophy 192Mar 2, 2022
Cone-rod dystrophy 21Aug 2, 2021
Cone-rod dystrophy 202Dec 8, 2021
Cone-rod dystrophy 212Sep 11, 2021
Cone-rod dystrophy 317Aug 4, 2021
Cone-rod dystrophy 54Dec 4, 2021
Cone-rod dystrophy 62Sep 21, 2021
Cone-rod dystrophy 73Dec 15, 2021
Cone-rod dystrophy 92Aug 4, 2021
Cone-rod synaptic disorder, congenital nonprogressive3Aug 10, 2021
Congenital adrenal hypoplasia, X-linked2Dec 4, 2021
Congenital afibrinogenemia4Sep 21, 2021
Congenital amegakaryocytic thrombocytopenia4Nov 9, 2021
Congenital anomalies of kidney and urinary tract 12Sep 11, 2021
Congenital anomalies of kidney and urinary tract 21Jan 25, 2022
Congenital anomalies of kidney and urinary tract 31Dec 4, 2021
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Dec 4, 2021
Congenital bilateral aplasia of vas deferens from CFTR mutation31Sep 1, 2021
Congenital bile acid synthesis defect 12Sep 21, 2021
Congenital bile acid synthesis defect 31Sep 11, 2021
Congenital bile acid synthesis defect 46Aug 4, 2021
Congenital bile acid synthesis defect 52Aug 4, 2021
Congenital bile acid synthesis defect 62Aug 4, 2021
Congenital brain dysgenesis due to glutamine synthetase deficiency2Sep 21, 2021
Congenital cataract-hearing loss-severe developmental delay syndrome1Jan 12, 2022
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Aug 2, 2021
Congenital cataracts-facial dysmorphism-neuropathy syndrome2Sep 11, 2021
Congenital cerebellar hypoplasia1Dec 4, 2021
Congenital contractural arachnodactyly4Sep 21, 2021
Congenital contractures of the limbs and face, hypotonia, and developmental delay5Nov 17, 2021
Congenital diarrhea 5 with tufting enteropathy1Sep 11, 2021
Congenital diarrhea 66Sep 21, 2021
Congenital disorder of deglycosylation1Nov 24, 2021
Congenital disorder of glycosylation type 1C7Jul 20, 2021
Congenital disorder of glycosylation type Ir4Sep 11, 2021
Congenital disorder of glycosylation with defective fucosylation 12Sep 21, 2021
Congenital disorder of glycosylation with defective fucosylation 21Sep 21, 2021
Congenital disorder of glycosylation, type IAA1Dec 4, 2021
Congenital disorder of glycosylation, type IIr1Aug 9, 2021
Congenital dyserythropoietic anemia type type 1B7Aug 10, 2021
Congenital dyserythropoietic anemia, type II6Jan 10, 2022
Congenital fibrosis of extraocular muscles type 11Oct 18, 2021
Congenital generalized lipodystrophy type 13Aug 4, 2021
Congenital generalized lipodystrophy type 24Aug 9, 2021
Congenital generalized lipodystrophy type 31Aug 10, 2021
Congenital glucose-galactose malabsorption1Jan 12, 2022
Congenital heart defects and ectodermal dysplasia4Dec 8, 2021
Congenital heart defects, multiple types, 53Sep 21, 2021
Congenital heart defects, multiple types, 79Sep 21, 2021
Congenital hereditary endothelial dystrophy of cornea24Jan 12, 2022
Congenital hyperammonemia, type I20Sep 11, 2021
Congenital hypotrichosis with juvenile macular dystrophy9Aug 10, 2021
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1Sep 11, 2021
Congenital insensitivity to pain-hypohidrosis syndrome2Dec 8, 2021
Congenital isolated adrenocorticotropic hormone deficiency2Jan 25, 2022
Congenital lactase deficiency7Oct 18, 2021
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type26Aug 20, 2021
Congenital lipoid adrenal hyperplasia due to STAR deficency4Jan 12, 2022
Congenital malabsorptive diarrhea 41Nov 24, 2021
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome7Aug 11, 2021
Congenital microvillous atrophy10Nov 17, 2021
Congenital multicore myopathy with external ophthalmoplegia31Dec 15, 2021
Congenital muscular dystrophy due to integrin alpha-7 deficiency7Oct 18, 2021
Congenital muscular dystrophy with cataracts and intellectual disability2Aug 2, 2021
Congenital muscular dystrophy with intellectual disability and severe epilepsy2Sep 11, 2021
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome2Feb 21, 2022
Congenital muscular hypertrophy-cerebral syndrome1Jan 12, 2022
Congenital myasthenic syndrome 103Sep 11, 2021
Congenital myasthenic syndrome 118Dec 15, 2021
Congenital myasthenic syndrome 123Sep 21, 2021
Congenital myasthenic syndrome 131Sep 11, 2021
Congenital myasthenic syndrome 178Oct 18, 2021
Congenital myasthenic syndrome 181Jan 12, 2022
Congenital myasthenic syndrome 198Sep 1, 2021
Congenital myasthenic syndrome 1A4Aug 23, 2021
Congenital myasthenic syndrome 201Jan 12, 2022
Congenital myasthenic syndrome 211Jan 10, 2022
Congenital myasthenic syndrome 2A2Aug 23, 2021
Congenital myasthenic syndrome 2C2Aug 23, 2021
Congenital myasthenic syndrome 4A8Jul 25, 2021
Congenital myasthenic syndrome 4B7Jul 25, 2021
Congenital myasthenic syndrome 4C7Jul 25, 2021
Congenital myasthenic syndrome 55Sep 11, 2021
Congenital myasthenic syndrome 73Jan 25, 2022
Congenital myasthenic syndrome 819Aug 4, 2021
Congenital myasthenic syndrome 92Nov 10, 2021
Congenital myopathy with fiber type disproportion2Feb 21, 2022
Congenital myopathy with internal nuclei and atypical cores5Aug 2, 2021
Congenital myotonia, autosomal dominant form10Aug 23, 2021
Congenital myotonia, autosomal recessive form10Aug 23, 2021
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome1Oct 18, 2021
Congenital nonprogressive myopathy with Moebius and Robin sequences3Feb 21, 2022
Congenital prothrombin deficiency1Sep 21, 2021
Congenital reticular ichthyosiform erythroderma1Oct 18, 2021
Congenital secretory diarrhea, chloride type1Jan 12, 2022
Congenital secretory sodium diarrhea 89Jan 12, 2022
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome4Feb 21, 2022
Congenital stationary night blindness 1B8Sep 21, 2021
Congenital stationary night blindness 1C8Feb 21, 2022
Congenital stationary night blindness 1D1Jan 10, 2022
Congenital stationary night blindness 1F2Oct 18, 2021
Congenital stationary night blindness 1H1Sep 21, 2021
Congenital stationary night blindness 2A5Aug 10, 2021
Congenital stationary night blindness autosomal dominant 23Sep 21, 2021
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A22Nov 17, 2021
Contractures, pterygia, and variable skeletal fusions syndrome 1B22Nov 17, 2021
Cornea plana 21Oct 18, 2021
Corneal dystrophy, Fuchs endothelial, 12Sep 11, 2021
Corneal dystrophy, Fuchs endothelial, 33Jan 25, 2022
Corneal dystrophy, Meesmann, 11Oct 18, 2021
Corneal dystrophy, posterior polymorphous, 43Sep 21, 2021
Corneal dystrophy-perceptive deafness syndrome25Jan 12, 2022
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome3Nov 24, 2021
Cornelia de Lange syndrome 1115Jan 10, 2022
Cornelia de Lange syndrome 32Jan 12, 2022
Cornelia de Lange syndrome 43Dec 15, 2021
Cornelia de Lange syndrome 51Sep 21, 2021
Cortical dysplasia, complex, with other brain malformations 102Aug 2, 2021
Cortical dysplasia, complex, with other brain malformations 92Sep 11, 2021
Cortical dysplasia-focal epilepsy syndrome6Sep 1, 2021
Corticosterone 18-monooxygenase deficiency22Jul 7, 2021
Corticosterone methyloxidase type 2 deficiency21Jul 7, 2021
Costello syndrome1Sep 21, 2021
Cowden syndrome 11Dec 8, 2021
Cowden syndrome 76Jan 10, 2022
Coxopodopatellar syndrome1Jan 25, 2022
Cranioectodermal dysplasia 15Sep 21, 2021
Cranioectodermal dysplasia 26May 15, 2022
Cranioectodermal dysplasia 421May 15, 2022
Craniofacial dysplasia - osteopenia syndrome1Oct 18, 2021
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3Aug 2, 2021
Craniofacial-deafness-hand syndrome1Dec 4, 2021
Craniofrontonasal syndrome1Sep 11, 2021
Craniolenticulosutural dysplasia4Jan 10, 2022
Craniometaphyseal dysplasia, autosomal dominant33Jun 7, 2022
Craniosynostosis 21Nov 10, 2021
Creatine transporter deficiency3Jan 12, 2022
Cryptorchidism2Oct 18, 2021
Curry-Hall syndrome23Sep 11, 2021
Cutaneous porphyria2May 15, 2022
Cutis laxa with osteodystrophy7Aug 9, 2021
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies7Nov 10, 2021
Cutis laxa, X-linked4Aug 11, 2021
Cutis laxa, autosomal dominant 13Sep 11, 2021
Cutis laxa, autosomal dominant 21Sep 21, 2021
Cutis laxa, autosomal dominant 37Aug 4, 2021
Cutis laxa, autosomal recessive, type 1A1Sep 21, 2021
Cutis laxa, autosomal recessive, type 1B4Sep 11, 2021
Cystic fibrosis387Nov 24, 2021
Cystinuria4Jan 12, 2022
D-2-hydroxyglutaric aciduria 17Sep 11, 2021
DE SANCTIS-CACCHIONE SYNDROME7Sep 11, 2021
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES3Jan 12, 2022
DICER1 syndrome3Sep 11, 2021
DNA ligase IV deficiency1Oct 18, 2021
DOCK2 deficiency8Sep 11, 2021
DPAGT1-CDG1Sep 11, 2021
Dalmatian hypouricemia6Jan 10, 2022
Danon disease1Oct 18, 2021
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 13Sep 11, 2021
Deafness, congenital heart defects, and posterior embryotoxon5Oct 18, 2021
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome6Dec 4, 2021
Deafness-lymphedema-leukemia syndrome3Sep 21, 2021
Deeah syndrome3Nov 10, 2021
Deficiency of 2-methylbutyryl-CoA dehydrogenase4Aug 4, 2021
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase7Aug 30, 2021
Deficiency of acetyl-CoA acetyltransferase13Aug 11, 2021
Deficiency of alpha-mannosidase123Nov 24, 2021
Deficiency of aromatic-L-amino-acid decarboxylase5Sep 11, 2021
Deficiency of butyryl-CoA dehydrogenase50Dec 15, 2021
Deficiency of ferroxidase3Sep 11, 2021
Deficiency of galactokinase10Aug 30, 2021
Deficiency of guanidinoacetate methyltransferase3Jul 25, 2021
Deficiency of hyaluronoglucosaminidase1Sep 21, 2021
Deficiency of hydroxymethylglutaryl-CoA lyase8Aug 30, 2021
Deficiency of malonyl-CoA decarboxylase1Nov 10, 2021
Deficiency of phosphoserine phosphatase2May 12, 2021
Deficiency of pyrroline-5-carboxylate reductase14Aug 4, 2021
Deficiency of steroid 11-beta-monooxygenase4Sep 11, 2021
Deficiency of steroid 17-alpha-monooxygenase8Jul 14, 2021
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema34Dec 4, 2021
Dejerine-Sottas disease4Dec 8, 2021
Denticles3Sep 11, 2021
Dentinogenesis imperfecta type 23Sep 11, 2021
Dentinogenesis imperfecta type 33Sep 11, 2021
Desbuquois dysplasia 215May 15, 2022
Desmin-related myofibrillar myopathy3Sep 11, 2021
Desmosterolosis2Sep 11, 2021
Developmental and epileptic encephalopathy 891Sep 21, 2021
Developmental and epileptic encephalopathy 9410Aug 23, 2021
Developmental and epileptic encephalopathy 9868Jun 25, 2022
Developmental and epileptic encephalopathy 9949Jun 25, 2022
Developmental and epileptic encephalopathy, 116Jan 10, 2022
Developmental and epileptic encephalopathy, 1212Dec 4, 2021
Developmental and epileptic encephalopathy, 138Jan 10, 2022
Developmental and epileptic encephalopathy, 14306Jul 28, 2022
Developmental and epileptic encephalopathy, 152Jan 12, 2022
Developmental and epileptic encephalopathy, 172Sep 21, 2021
Developmental and epileptic encephalopathy, 184Jan 25, 2022
Developmental and epileptic encephalopathy, 192Sep 21, 2021
Developmental and epileptic encephalopathy, 21Aug 23, 2021
Developmental and epileptic encephalopathy, 231Sep 11, 2021
Developmental and epileptic encephalopathy, 2551Jan 10, 2022
Developmental and epileptic encephalopathy, 274Sep 21, 2021
Developmental and epileptic encephalopathy, 2838May 15, 2022
Developmental and epileptic encephalopathy, 291Aug 2, 2021
Developmental and epileptic encephalopathy, 3011Jan 10, 2022
Developmental and epileptic encephalopathy, 311Sep 11, 2021
Developmental and epileptic encephalopathy, 332Sep 11, 2021
Developmental and epileptic encephalopathy, 343Jan 10, 2022
Developmental and epileptic encephalopathy, 353Oct 18, 2021
Developmental and epileptic encephalopathy, 3649Jun 7, 2022
Developmental and epileptic encephalopathy, 372Sep 21, 2021
Developmental and epileptic encephalopathy, 381Aug 9, 2021
Developmental and epileptic encephalopathy, 392Jan 10, 2022
Developmental and epileptic encephalopathy, 406Sep 21, 2021
Developmental and epileptic encephalopathy, 416Jan 10, 2022
Developmental and epileptic encephalopathy, 4220Aug 10, 2021
Developmental and epileptic encephalopathy, 431Sep 21, 2021
Developmental and epileptic encephalopathy, 441May 15, 2022
Developmental and epileptic encephalopathy, 452Sep 21, 2021
Developmental and epileptic encephalopathy, 462Sep 21, 2021
Developmental and epileptic encephalopathy, 472Sep 21, 2021
Developmental and epileptic encephalopathy, 493Sep 11, 2021
Developmental and epileptic encephalopathy, 5228Jan 12, 2022
Developmental and epileptic encephalopathy, 501Aug 10, 2021
Developmental and epileptic encephalopathy, 533Jan 25, 2022
Developmental and epileptic encephalopathy, 541Sep 21, 2021
Developmental and epileptic encephalopathy, 571Oct 18, 2021
Developmental and epileptic encephalopathy, 582Dec 4, 2021
Developmental and epileptic encephalopathy, 594Sep 21, 2021
Developmental and epileptic encephalopathy, 613Aug 4, 2021
Developmental and epileptic encephalopathy, 628Jan 10, 2022
Developmental and epileptic encephalopathy, 632Aug 2, 2021
Developmental and epileptic encephalopathy, 643Dec 15, 2021
Developmental and epileptic encephalopathy, 656Sep 11, 2021
Developmental and epileptic encephalopathy, 672Sep 11, 2021
Developmental and epileptic encephalopathy, 689Feb 21, 2022
Developmental and epileptic encephalopathy, 696Aug 10, 2021
Developmental and epileptic encephalopathy, 73Oct 18, 2021
Developmental and epileptic encephalopathy, 731Dec 15, 2021
Developmental and epileptic encephalopathy, 741Sep 21, 2021
Developmental and epileptic encephalopathy, 761Aug 4, 2021
Developmental and epileptic encephalopathy, 7718Aug 2, 2021
Developmental and epileptic encephalopathy, 794Sep 21, 2021
Developmental and epileptic encephalopathy, 803Dec 4, 2021
Developmental and epileptic encephalopathy, 8112Sep 11, 2021
Developmental and epileptic encephalopathy, 824Sep 21, 2021
Developmental and epileptic encephalopathy, 831May 15, 2022
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Jan 12, 2022
Developmental and epileptic encephalopathy, 91Dec 4, 2021
Developmental delay and seizures with or without movement abnormalities1Jul 17, 2021
Developmental delay with autism spectrum disorder and gait instability5Sep 21, 2021
Developmental delay with or without dysmorphic facies and autism2Feb 21, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy20Jul 28, 2022
Developmental malformations-deafness-dystonia syndrome25Jun 7, 2022
Diabetes insipidus, nephrogenic, X-linked2Aug 9, 2021
Diabetes insipidus, nephrogenic, autosomal15Jun 25, 2022
Diabetes mellitus, permanent neonatal 32Aug 30, 2021
Diabetes mellitus, permanent neonatal 41Aug 2, 2021
Diabetes mellitus, transient neonatal, 11May 15, 2022
Diamond-Blackfan anemia 101Dec 15, 2021
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1May 17, 2021
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1Dec 15, 2021
Diamond-Blackfan anemia 161Dec 15, 2021
Diamond-Blackfan anemia 171Dec 15, 2021
Diamond-Blackfan anemia 31Dec 15, 2021
Diamond-Blackfan anemia 71Dec 15, 2021
Diamond-Blackfan anemia 81Dec 15, 2021
Diaphanospondylodysostosis3Aug 9, 2021
Diaphyseal dysplasia2Feb 21, 2022
Diastrophic dysplasia7Sep 1, 2021
Dicarboxylic aminoaciduria1Jan 10, 2022
Diencephalic-mesencephalic junction dysplasia syndrome 18Dec 4, 2021
Diencephalic-mesencephalic junction dysplasia syndrome 23Sep 21, 2021
Diets-Jongmans syndrome4Oct 18, 2021
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2Dec 15, 2021
Dihydropteridine reductase deficiency2Dec 15, 2021
Dilated cardiomyopathy 1C1Oct 18, 2021
Dilated cardiomyopathy 1D4Feb 21, 2022
Dilated cardiomyopathy 1DD5Dec 15, 2021
Dilated cardiomyopathy 1GG4Aug 2, 2021
Dilated cardiomyopathy 1I3Sep 11, 2021
Dilated cardiomyopathy 1J2Sep 21, 2021
Dilated cardiomyopathy 1JJ12Oct 18, 2021
Dilated cardiomyopathy 1KK10Nov 17, 2021
Dilated cardiomyopathy 1S2Nov 17, 2021
Dilated cardiomyopathy 1U1Dec 8, 2021
Dilated cardiomyopathy 1V8Dec 8, 2021
Dilated cardiomyopathy 1X2Sep 21, 2021
Dilated cardiomyopathy 1Y2Feb 21, 2022
Dilated cardiomyopathy 2A1Feb 21, 2022
Dilated cardiomyopathy 3B17Sep 11, 2021
Distal arthrogryposis type 2B12Aug 2, 2021
Distal arthrogryposis type 5D4Sep 11, 2021
Distal myopathy with anterior tibial onset40Sep 11, 2021
Donnai-Barrow syndrome193Jan 10, 2022
Dopamine beta-hydroxylase deficiency4Sep 11, 2021
Dowling-Degos disease 21Dec 8, 2021
Dowling-Degos disease 42Dec 8, 2021
Doyne honeycomb retinal dystrophy4Sep 11, 2021
Drash syndrome18May 15, 2022
Duane retraction syndrome 21Aug 23, 2021
Duane-radial ray syndrome4Dec 15, 2021
Dubin-Johnson syndrome5Aug 4, 2021
Duchenne muscular dystrophy26Sep 11, 2021
Dyschromatosis universalis hereditaria 12Dec 15, 2021
Dyskeratosis congenita, X-linked3Sep 11, 2021
Dyskeratosis congenita, autosomal dominant 22Feb 21, 2022
Dyskeratosis congenita, autosomal dominant 611Jun 7, 2022
Dyskeratosis congenita, autosomal recessive 11Nov 24, 2021
Dyskeratosis congenita, autosomal recessive 521Jul 28, 2021
Dyskinesia with orofacial involvement, autosomal dominant35Jun 7, 2022
Dyskinesia with orofacial involvement, autosomal recessive26Jun 7, 2022
Dyskinesia, limb and orofacial, infantile-onset2Dec 4, 2021
Dystonia 1251Jun 25, 2022
Dystonia 2441Jun 25, 2022
Dystonia 252Sep 21, 2021
Dystonia 2710Sep 11, 2021
Dystonia 28, childhood-onset6Oct 18, 2021
Dystonia 325May 15, 2022
Dystonia 51Sep 21, 2021
Dystonia 92Jan 12, 2022
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities3Nov 10, 2021
EEM syndrome9Aug 10, 2021
Early-onset Lafora body disease1Dec 8, 2021
Early-onset Parkinson disease 203Jan 25, 2022
Early-onset myopathy with fatal cardiomyopathy635Mar 2, 2022
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome12Jan 25, 2022
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome5Feb 21, 2022
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1May 15, 2022
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant6Sep 11, 2021
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive6Sep 11, 2021
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant3Sep 11, 2021
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive3Sep 11, 2021
Ectodermal dysplasia 9, hair/nail type1Sep 21, 2021
Ectodermal dysplasia and immunodeficiency 21Nov 24, 2021
Ectopia lentis et pupillae4Aug 4, 2021
Ehlers-Danlos syndrome due to tenascin-X deficiency9Feb 21, 2022
Ehlers-Danlos syndrome progeroid type4Aug 9, 2021
Ehlers-Danlos syndrome, arthrochalasis type9Sep 1, 2021
Ehlers-Danlos syndrome, classic type, 1184Jul 28, 2022
Ehlers-Danlos syndrome, classic type, 28Sep 11, 2021
Ehlers-Danlos syndrome, classic-like, 25Aug 4, 2021
Ehlers-Danlos syndrome, dermatosparaxis type29Aug 4, 2021
Ehlers-Danlos syndrome, kyphoscoliotic type 12Dec 8, 2021
Ehlers-Danlos syndrome, musculocontractural type 22Sep 11, 2021
Ehlers-Danlos syndrome, spondylocheirodysplastic type2Jan 12, 2022
Ehlers-Danlos syndrome, type 48Sep 1, 2021
Ehlers-danlos syndrome, arthrochalasia type, 24Sep 1, 2021
Eichsfeld type congenital muscular dystrophy5Jan 10, 2022
Eiken syndrome2Dec 15, 2021
Elliptocytosis 222Jan 12, 2022
Ellis-van Creveld syndrome31Sep 11, 2021
Elsahy-Waters syndrome8Aug 10, 2021
Emery-Dreifuss muscular dystrophy 4, autosomal dominant31Jan 25, 2022
Emery-Dreifuss muscular dystrophy 5, autosomal dominant24Jan 25, 2022
Emery-Dreifuss muscular dystrophy 7, autosomal dominant3Feb 21, 2022
Encephalopathy due to GLUT1 deficiency2Jan 12, 2022
Encephalopathy due to prosaposin deficiency11Dec 8, 2021
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 16Sep 11, 2021
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities3Oct 18, 2021
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 18Aug 9, 2021
Endocrine-cerebro-osteodysplasia syndrome1Sep 21, 2021
Enhanced S-cone syndrome3Dec 4, 2021
Epidermodysplasia verruciformis, susceptibility to, 25Feb 21, 2022
Epidermolysis bullosa simplex 1C, localized5Oct 18, 2021
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency6Sep 11, 2021
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive4Sep 21, 2021
Epidermolysis bullosa simplex 5B, with muscular dystrophy39Dec 8, 2021
Epidermolysis bullosa simplex 5C, with pyloric atresia39Dec 8, 2021
Epidermolysis bullosa simplex with nail dystrophy39Dec 8, 2021
Epidermolysis bullosa simplex, Ogna type39Dec 8, 2021
Epidermolytic palmoplantar keratoderma4Oct 18, 2021
Epilepsy, childhood absence 21Sep 21, 2021
Epilepsy, early-onset, with or without developmental delay1Jan 10, 2022
Epilepsy, familial adult myoclonic, 46May 15, 2022
Epilepsy, familial adult myoclonic, 53Sep 1, 2021
Epilepsy, familial adult myoclonic, 66Feb 21, 2022
Epilepsy, familial adult myoclonic, 75Dec 15, 2021
Epilepsy, familial focal, with variable foci 13Dec 22, 2021
Epilepsy, familial focal, with variable foci 35Aug 2, 2021
Epilepsy, familial focal, with variable foci 48Jan 10, 2022
Epilepsy, familial temporal lobe, 11Oct 18, 2021
Epilepsy, progressive myoclonic, 115Jan 10, 2022
Epilepsy, progressive myoclonic, 1B1Dec 8, 2021
Epiphyseal dysplasia, multiple, 36Sep 11, 2021
Epiphyseal dysplasia, multiple, 612Sep 11, 2021
Episodic ataxia type 14Oct 18, 2021
Episodic ataxia type 220Aug 10, 2021
Episodic ataxia type 69Jan 10, 2022
Episodic ataxia, type 96Jan 10, 2022
Episodic kinesigenic dyskinesia 11Dec 8, 2021
Episodic pain syndrome, familial, 212Jan 10, 2022
Epithelial recurrent erosion dystrophy14Sep 1, 2021
Erythrocytosis, familial, 71Aug 2, 2021
Erythrokeratodermia variabilis et progressiva 11Sep 21, 2021
Erythrokeratodermia variabilis et progressiva 41Oct 18, 2021
Erythrokeratodermia variabilis et progressiva 63Feb 21, 2022
Ethylmalonic encephalopathy5Aug 15, 2021
Even-plus syndrome2Sep 21, 2021
Exercise-induced hyperinsulinism2Jan 10, 2022
Exostoses, multiple, type 21Sep 21, 2021
Exudative vitreoretinopathy 53Mar 2, 2022
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES68Jun 25, 2022
FG syndrome 16Nov 10, 2021
FIBROMUSCULAR DYSPLASIA, MULTIFOCAL184Jul 28, 2022
FRAXE5Aug 4, 2021
Fabry disease172Jan 10, 2022
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1Oct 18, 2021
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome15Dec 8, 2021
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome11Aug 9, 2021
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction5May 15, 2022
Facial paresis, hereditary congenital, 31Sep 21, 2021
Factor H deficiency7Aug 23, 2021
Factor I deficiency5Aug 23, 2021
Factor XIII, A subunit, deficiency of8Sep 21, 2021
Factor XIII, b subunit, deficiency of3Sep 21, 2021
Familial Mediterranean fever36Aug 30, 2021
Familial Mediterranean fever, autosomal dominant14Jul 14, 2021
Familial X-linked hypophosphatemic vitamin D refractory rickets1Dec 4, 2021
Familial amyloid nephropathy with urticaria AND deafness3Nov 24, 2021
Familial cancer of breast3Aug 10, 2021
Familial cavitary optic disc anomaly1Nov 10, 2021
Familial cold autoinflammatory syndrome 13Nov 24, 2021
Familial cold autoinflammatory syndrome 23Nov 24, 2021
Familial cold autoinflammatory syndrome 313Dec 8, 2021
Familial cold autoinflammatory syndrome 42Nov 24, 2021
Familial cylindromatosis1Sep 11, 2021
Familial dysautonomia37Aug 30, 2021
Familial episodic pain syndrome with predominantly lower limb involvement5Jan 10, 2022
Familial episodic pain syndrome with predominantly upper body involvement10Feb 21, 2022
Familial expansile osteolysis1Feb 21, 2022
Familial gestational hyperthyroidism6Mar 2, 2022
Familial hemophagocytic lymphohistiocytosis 21Dec 8, 2021
Familial hemophagocytic lymphohistiocytosis 37May 15, 2022
Familial hemophagocytic lymphohistiocytosis 57Jan 25, 2022
Familial hyperaldosteronism type III5Oct 18, 2021
Familial hyperthyroidism due to mutations in TSH receptor6Mar 2, 2022
Familial hypobetalipoproteinemia 18Aug 9, 2021
Familial hypocalciuric hypercalcemia 15Aug 10, 2021
Familial hypocalciuric hypercalcemia 31Aug 9, 2021
Familial hypokalemia-hypomagnesemia121Jan 10, 2022
Familial infantile myasthenia8Aug 23, 2021
Familial isolated congenital asplenia3Dec 15, 2021
Familial isolated deficiency of vitamin E2May 15, 2022
Familial juvenile hyperuricemic nephropathy type 12May 15, 2022
Familial juvenile hyperuricemic nephropathy type 22Dec 15, 2021
Familial pulmonary capillary hemangiomatosis7Sep 11, 2021
Familial retinal arterial macroaneurysm1Oct 12, 2021
Familial spontaneous pneumothorax2Sep 21, 2021
Familial steroid-resistant nephrotic syndrome with sensorineural deafness3Sep 11, 2021
Familial temporal lobe epilepsy 82Sep 21, 2021
Familial thyroid dyshormonogenesis 13Jan 12, 2022
Familial visceral amyloidosis, Ostertag type7Jun 25, 2022
Fanconi anemia complementation group A49Aug 30, 2021
Fanconi anemia complementation group B1Sep 21, 2021
Fanconi anemia complementation group C7Aug 15, 2021
Fanconi anemia complementation group D29Sep 21, 2021
Fanconi anemia complementation group E3Sep 21, 2021
Fanconi anemia complementation group F1Sep 21, 2021
Fanconi anemia complementation group G13Aug 30, 2021
Fanconi anemia complementation group I9Sep 21, 2021
Fanconi anemia complementation group L1Sep 21, 2021
Fanconi anemia complementation group O1Dec 15, 2021
Fanconi anemia complementation group P3Jan 12, 2022
Fanconi anemia complementation group Q5Sep 11, 2021
Fanconi anemia complementation group T1May 15, 2022
Fanconi anemia, complementation group W3Dec 15, 2021
Fanconi renotubular syndrome 12Sep 21, 2021
Fanconi renotubular syndrome 22Jan 12, 2022
Fanconi renotubular syndrome 53Nov 17, 2021
Fanconi-Bickel syndrome1Jan 12, 2022
Farber lipogranulomatosis21Aug 9, 2021
Fatal infantile hypertonic myofibrillar myopathy1Sep 11, 2021
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 35Sep 1, 2021
Fetal akinesia deformation sequence 12Nov 10, 2021
Fetal akinesia deformation sequence 28Dec 15, 2021
Fetal akinesia deformation sequence 33Sep 11, 2021
Fetal akinesia deformation sequence 48Dec 4, 2021
Fetal akinesia-cerebral and retinal hemorrhage syndrome1Sep 11, 2021
Fibrochondrogenesis 116Sep 1, 2021
Fibrochondrogenesis 215Sep 1, 2021
Fibrous dysplasia of jaw5Jan 10, 2022
Filippi syndrome2Aug 23, 2021
Finnish congenital nephrotic syndrome28Aug 30, 2021
Fish-eye disease1Oct 18, 2021
Fleck corneal dystrophy13Dec 4, 2021
Floating-Harbor syndrome3Jan 12, 2022
Focal segmental glomerulosclerosis 140Jun 7, 2022
Focal segmental glomerulosclerosis 22Feb 21, 2022
Focal segmental glomerulosclerosis 63Nov 17, 2021
Focal segmental glomerulosclerosis 74Dec 4, 2021
Focal segmental glomerulosclerosis 825Jun 25, 2022
Fontaine progeroid syndrome2Jan 10, 2022
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1Jan 12, 2022
Fowler syndrome3Sep 21, 2021
Frank-Ter Haar syndrome6Jan 10, 2022
Fraser syndrome 125Sep 21, 2021
Fraser syndrome 25Sep 21, 2021
Fraser syndrome 36Sep 21, 2021
Frasier syndrome18May 15, 2022
Freeman-Sheldon syndrome22Nov 17, 2021
Friedreich ataxia 11Sep 21, 2021
Frontonasal dysplasia with alopecia and genital anomaly8Aug 4, 2021
Frontorhiny1Aug 4, 2021
Frontotemporal dementia1Dec 8, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 13Aug 10, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 24Aug 23, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 33Jan 12, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Jan 25, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 64May 15, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 71Aug 23, 2021
Fructose-biphosphatase deficiency8Sep 21, 2021
Fuhrmann syndrome1May 15, 2022
Fumarase deficiency2Jul 14, 2021
GM1 gangliosidosis type 27Sep 21, 2021
GM1 gangliosidosis type 37Sep 21, 2021
GNE myopathy4Jul 31, 2021
GRACILE syndrome5Aug 30, 2021
GTP cyclohydrolase I deficiency1Sep 21, 2021
Galactosemia 41Sep 21, 2021
Galactosylceramide beta-galactosidase deficiency43Aug 30, 2021
Galloway-Mowat syndrome 12May 15, 2022
Galloway-Mowat syndrome 2, X-linked1Oct 18, 2021
Galloway-Mowat syndrome 35Dec 4, 2021
Galloway-Mowat syndrome 41Aug 30, 2021
Galloway-Mowat syndrome 51Feb 21, 2022
Galloway-Mowat syndrome 65May 15, 2022
Galloway-Mowat syndrome 73Dec 4, 2021
Galloway-Mowat syndrome 81Dec 4, 2021
Gamma-aminobutyric acid transaminase deficiency9Aug 2, 2021
Gapo syndrome17Jun 25, 2022
Gastrointestinal defects and immunodeficiency syndrome 15Mar 2, 2022
Gastrointestinal stromal tumor2Jan 10, 2022
Gaucher disease perinatal lethal4Jul 7, 2021
Gaucher disease type I13Aug 30, 2021
Gaucher disease type II3Aug 15, 2021
Gaze palsy, familial horizontal, with progressive scoliosis 16Dec 15, 2021
Gaze palsy, familial horizontal, with progressive scoliosis, 26Sep 11, 2021
Geleophysic dysplasia 19Aug 4, 2021
Generalized epilepsy with febrile seizures plus, type 22Aug 30, 2021
Generalized epilepsy with febrile seizures plus, type 93Jan 25, 2022
Generalized epilepsy-paroxysmal dyskinesia syndrome1Oct 18, 2021
Generalized juvenile polyposis/juvenile polyposis coli2Aug 9, 2021
Genitourinary and/or brain malformation syndrome1Dec 8, 2021
Geroderma osteodysplastica2Sep 21, 2021
Giant axonal neuropathy 11Sep 21, 2021
Gillespie syndrome8Oct 18, 2021
Gillessen-Kaesbach-Nishimura syndrome2Aug 4, 2021
Glanzmann thrombasthenia 13Oct 18, 2021
Glaucoma 1, open angle, G5May 15, 2022
Glaucoma 3, primary congenital, E7Feb 21, 2022
Glaucoma 3A8Sep 11, 2021
Glaucoma, primary closed-angle11Sep 1, 2021
Global developmental delay with or without impaired intellectual development10Sep 11, 2021
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies2May 15, 2022
Globozoospermia1Jan 12, 2022
Glomerulopathy with fibronectin deposits 218Sep 21, 2021
Glucocorticoid deficiency 12Sep 21, 2021
Glucocorticoid deficiency 43Nov 24, 2021
Glucocorticoid deficiency 55May 15, 2022
Glucocorticoid deficiency with achalasia7Aug 2, 2021
Glucocorticoid resistance1Dec 4, 2021
Glucose-6-phosphate transport defect11Aug 23, 2021
Glutamate formiminotransferase deficiency2Sep 21, 2021
Glutaric aciduria, type 19Aug 15, 2021
Glutathione synthetase deficiency with 5-oxoprolinuria1Sep 21, 2021
Glutathione synthetase deficiency without 5-oxoprolinuria1Sep 21, 2021
Glycogen storage disease IXc1Dec 4, 2021
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3Aug 30, 2021
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency3Oct 18, 2021
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1Sep 21, 2021
Glycogen storage disease due to muscle beta-enolase deficiency2Sep 11, 2021
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1Dec 4, 2021
Glycogen storage disease type III177Jan 10, 2022
Glycogen storage disease, type II290Nov 24, 2021
Glycogen storage disease, type IV14Sep 21, 2021
Glycogen storage disease, type V28Aug 23, 2021
Glycogen storage disease, type VI7Dec 15, 2021
Glycogen storage disease, type VII10Dec 4, 2021
Glycogen storage disorder due to hepatic glycogen synthase deficiency7Sep 21, 2021
Glycosylphosphatidylinositol biosynthesis defect 162Dec 4, 2021
Glycosylphosphatidylinositol biosynthesis defect 211Dec 4, 2021
Gnathodiaphyseal dysplasia39Jun 25, 2022
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors3Sep 11, 2021
Goldberg-Shprintzen megacolon syndrome1Oct 18, 2021
Goldblatt syndrome3Feb 21, 2022
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy1Dec 8, 2021
Gordon syndrome24Dec 4, 2021
Gorlin syndrome9Jan 25, 2022
Granulocytopenia with immunoglobulin abnormality3Sep 21, 2021
Granulomatous disease, chronic, X-linked2Jul 31, 2021
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative14Aug 30, 2021
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 22Nov 17, 2021
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 32Nov 17, 2021
Gray platelet syndrome8Nov 17, 2021
Greenberg dysplasia3Oct 18, 2021
Greig cephalopolysyndactyly syndrome2Sep 21, 2021
Griscelli syndrome type 18Nov 17, 2021
Griscelli syndrome type 21Dec 15, 2021
Griscelli syndrome type 33Nov 10, 2021
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1Sep 21, 2021
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome6Jan 10, 2022
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Sep 21, 2021
H syndrome7Jan 12, 2022
HNSHA due to aldolase A deficiency1Aug 4, 2021
Hajdu-Cheney syndrome3Nov 24, 2021
Hamartoma of hypothalamus4Jan 12, 2022
Harel-Yoon syndrome6Aug 2, 2021
Hawkinsinuria1Sep 21, 2021
Hb SS disease2Jun 8, 2021
Hearing loss, X-linked 11Dec 8, 2021
Hearing loss, X-linked 646Jul 28, 2022
Hearing loss, autosomal dominant 3716Sep 1, 2021
Hearing loss, autosomal dominant 7112Sep 11, 2021
Hearing loss, autosomal dominant 727Jan 12, 2022
Hearing loss, autosomal dominant 7311Dec 15, 2021
Hearing loss, autosomal dominant 745Dec 4, 2021
Hearing loss, autosomal dominant 752Feb 21, 2022
Hearing loss, autosomal dominant 762Dec 8, 2021
Hearing loss, autosomal dominant 802Sep 21, 2021
Hearing loss, autosomal recessive 1064Aug 2, 2021
Hearing loss, autosomal recessive 1074May 15, 2022
Hearing loss, autosomal recessive 1084Dec 15, 2021
Hearing loss, autosomal recessive 1094Sep 11, 2021
Hearing loss, autosomal recessive 1102Sep 1, 2021
Hearing loss, autosomal recessive 11212Aug 9, 2021
Hearing loss, autosomal recessive 1156Jan 12, 2022
Hearing loss, autosomal recessive 578Aug 1, 2022
Hearing loss, autosomal recessive 942Nov 17, 2021
Hearing loss, autosomal recessive 992Feb 21, 2022
Heart and brain malformation syndrome1Jan 12, 2022
Heart defect - tongue hamartoma - polysyndactyly syndrome2May 15, 2022
Hecht syndrome4Nov 17, 2021
Heimler syndrome 113Dec 4, 2021
Heimler syndrome 211Aug 20, 2021
Helicoid peripapillary chorioretinal degeneration1Feb 21, 2022
Hemochromatosis type 11Sep 21, 2021
Hemochromatosis type 2A1Aug 15, 2021
Hemochromatosis type 32Aug 23, 2021
Hemochromatosis type 43Jan 12, 2022
Hemolytic anemia due to glutathione reductase deficiency1Sep 21, 2021
Hemolytic anemia due to hexokinase deficiency6Sep 21, 2021
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1Dec 4, 2021
Hemolytic uremic syndrome, atypical, susceptibility to, 17Aug 23, 2021
Hennekam lymphangiectasia-lymphedema syndrome 17Aug 10, 2021
Hennekam lymphangiectasia-lymphedema syndrome 215Sep 21, 2021
Hennekam lymphangiectasia-lymphedema syndrome 33Aug 4, 2021
Hepatic veno-occlusive disease-immunodeficiency syndrome7Jan 12, 2022
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 119Aug 30, 2021
Hereditary acrodermatitis enteropathica12Aug 23, 2021
Hereditary angioedema type 12Jan 10, 2022
Hereditary angioedema type 35Sep 21, 2021
Hereditary antithrombin deficiency3Jan 10, 2022
Hereditary arterial and articular multiple calcification syndrome2Dec 4, 2021
Hereditary cryohydrocytosis with reduced stomatin2Jan 12, 2022
Hereditary diffuse gastric adenocarcinoma3Aug 10, 2021
Hereditary diffuse leukoencephalopathy with spheroids6Sep 11, 2021
Hereditary factor IX deficiency disease3Sep 21, 2021
Hereditary factor VIII deficiency disease3Sep 21, 2021
Hereditary factor X deficiency disease3Sep 21, 2021
Hereditary factor XI deficiency disease9Aug 30, 2021
Hereditary fructosuria11Aug 30, 2021
Hereditary hyperferritinemia with congenital cataracts1Sep 21, 2021
Hereditary insensitivity to pain with anhidrosis18Dec 4, 2021
Hereditary leiomyomatosis and renal cell cancer2Jul 14, 2021
Hereditary lymphedema type I9Sep 21, 2021
Hereditary motor and sensory neuropathy, Okinawa type1Feb 21, 2022
Hereditary myopathy with lactic acidosis due to ISCU deficiency4Oct 18, 2021
Hereditary pancreatitis1Dec 8, 2021
Hereditary sensory and autonomic neuropathy type 67Sep 11, 2021
Hereditary sensory and autonomic neuropathy type 75Jan 10, 2022
Hereditary sensory and autonomic neuropathy with spastic paraplegia15Aug 10, 2021
Hereditary sensory neuropathy-deafness-dementia syndrome6Sep 11, 2021
Hereditary spastic paraplegia 101Oct 18, 2021
Hereditary spastic paraplegia 111Aug 30, 2021
Hereditary spastic paraplegia 131Sep 21, 2021
Hereditary spastic paraplegia 1540May 15, 2022
Hereditary spastic paraplegia 174Aug 9, 2021
Hereditary spastic paraplegia 22Dec 8, 2021
Hereditary spastic paraplegia 232Sep 11, 2021
Hereditary spastic paraplegia 286Sep 11, 2021
Hereditary spastic paraplegia 301Oct 18, 2021
Hereditary spastic paraplegia 314Dec 15, 2021
Hereditary spastic paraplegia 3316May 15, 2022
Hereditary spastic paraplegia 353Sep 21, 2021
Hereditary spastic paraplegia 3913Dec 8, 2021
Hereditary spastic paraplegia 3A24Jun 25, 2022
Hereditary spastic paraplegia 421Jan 12, 2022
Hereditary spastic paraplegia 431Aug 10, 2021
Hereditary spastic paraplegia 461Sep 21, 2021
Hereditary spastic paraplegia 473Aug 9, 2021
Hereditary spastic paraplegia 485Aug 9, 2021
Hereditary spastic paraplegia 4911Jul 20, 2021
Hereditary spastic paraplegia 504Aug 9, 2021
Hereditary spastic paraplegia 5122Jun 25, 2022
Hereditary spastic paraplegia 533May 15, 2022
Hereditary spastic paraplegia 541Sep 11, 2021
Hereditary spastic paraplegia 561Sep 11, 2021
Hereditary spastic paraplegia 571Feb 21, 2022
Hereditary spastic paraplegia 5A1Sep 11, 2021
Hereditary spastic paraplegia 61Nov 24, 2021
Hereditary spastic paraplegia 621Sep 11, 2021
Hereditary spastic paraplegia 641Sep 11, 2021
Hereditary spastic paraplegia 79Jan 12, 2022
Hereditary spastic paraplegia 731Sep 11, 2021
Hereditary spastic paraplegia 742Sep 21, 2021
Hereditary spastic paraplegia 752Nov 10, 2021
Hereditary spastic paraplegia 771Sep 21, 2021
Hereditary spastic paraplegia 9A7Aug 4, 2021
Hereditary spherocytosis type 141Jun 7, 2022
Hereditary spherocytosis type 216Jan 12, 2022
Hereditary spherocytosis type 322Jan 12, 2022
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12Dec 15, 2021
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency3Sep 21, 2021
Hereditary xanthinuria type 137May 15, 2022
Hermansky-Pudlak syndrome 116Sep 21, 2021
Hermansky-Pudlak syndrome 22Aug 9, 2021
Hermansky-Pudlak syndrome 315Aug 15, 2021
Hermansky-Pudlak syndrome 47Sep 21, 2021
Hermansky-Pudlak syndrome 52Sep 21, 2021
Hermansky-Pudlak syndrome 81Aug 9, 2021
Heterotaxy, visceral, 4, autosomal3Aug 4, 2021
Heterotaxy, visceral, 8, autosomal23Dec 4, 2021
High myopia-sensorineural deafness syndrome1Jan 12, 2022
Hip dysplasia, Beukes type2May 15, 2022
Histiocytic medullary reticulosis17Dec 15, 2021
Holocarboxylase synthetase deficiency11Aug 15, 2021
Holoprosencephaly 116Aug 23, 2021
Holoprosencephaly 12 with or without pancreatic agenesis7Sep 1, 2021
Holoprosencephaly 13, X-linked2Jan 12, 2022
Holoprosencephaly 21Jan 10, 2022
Holoprosencephaly 31Jan 10, 2022
Holoprosencephaly 51Aug 30, 2021
Holoprosencephaly 73Dec 8, 2021
Holoprosencephaly 99Sep 21, 2021
Holt-Oram syndrome1Jan 25, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency9Aug 30, 2021
Humerofemoral hypoplasia with radiotibial ray deficiency2Dec 15, 2021
Hurler syndrome14Aug 2, 2021
Hyaline fibromatosis syndrome4Aug 9, 2021
Hydrocephalus, congenital, 3, with brain anomalies8Aug 2, 2021
Hydrocephalus, nonsyndromic, autosomal recessive 19Aug 10, 2021
Hydrocephalus, nonsyndromic, autosomal recessive 23Nov 10, 2021
Hydrolethalus syndrome 11Jul 20, 2021
Hydrolethalus syndrome 212Oct 18, 2021
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome6Oct 18, 2021
Hydroxykynureninuria1Oct 18, 2021
Hyper-IgE recurrent infection syndrome 12Jan 12, 2022
Hyper-IgE recurrent infection syndrome 3, autosomal recessive1May 15, 2022
Hyper-IgE recurrent infection syndrome 4, autosomal recessive1May 19, 2021
Hyper-IgM syndrome type 24Aug 4, 2021
Hyper-IgM syndrome type 32Aug 10, 2021
Hyperammonemia, type III7Aug 20, 2021
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency3Aug 10, 2021
Hypercalcemia, infantile, 12Sep 11, 2021
Hypercalcemia, infantile, 22Jan 12, 2022
Hypercholanemia, familial 19Feb 21, 2022
Hypercholesterolemia, autosomal dominant, 36Dec 4, 2021
Hypercholesterolemia, autosomal dominant, type B8Aug 9, 2021
Hypercholesterolemia, familial, 137Aug 15, 2021
Hypercholesterolemia, familial, 45Jul 17, 2021
Hyperekplexia 22Sep 21, 2021
Hyperekplexia 38Jan 12, 2022
Hyperglycinuria9Jan 12, 2022
Hyperinsulinemic hypoglycemia, familial, 11Aug 30, 2021
Hyperinsulinemic hypoglycemia, familial, 23Aug 30, 2021
Hyperlipoproteinemia, type I8Aug 30, 2021
Hypermanganesemia with dystonia 24Jan 12, 2022
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase2Aug 4, 2021
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome4Jul 20, 2021
Hyperostosis cranialis interna4Jan 12, 2022
Hyperphosphatasemia with bone disease2Feb 21, 2022
Hyperphosphatasia with intellectual disability syndrome 23Dec 4, 2021
Hyperphosphatasia with intellectual disability syndrome 42Dec 4, 2021
Hyperproinsulinemia1Aug 2, 2021
Hypertrichotic osteochondrodysplasia Cantu type13Aug 4, 2021
Hypertrophic cardiomyopathy 11Nov 17, 2021
Hypertrophic cardiomyopathy 101Nov 17, 2021
Hypertrophic cardiomyopathy 154May 15, 2022
Hypertrophic cardiomyopathy 172Oct 18, 2021
Hypertrophic cardiomyopathy 24Feb 21, 2022
Hypertrophic cardiomyopathy 251Jan 25, 2022
Hypertrophic cardiomyopathy 32Feb 21, 2022
Hypertrophic cardiomyopathy 45Nov 10, 2021
Hypertrophic cardiomyopathy 61Dec 8, 2021
Hypertrophic cardiomyopathy 71Feb 21, 2022
Hypertrophic cardiomyopathy 82Nov 17, 2021
Hypertrophic osteoarthropathy, primary, autosomal dominant2Jan 12, 2022
Hypertrophic osteoarthropathy, primary, autosomal recessive, 12Sep 21, 2021
Hypertrophic osteoarthropathy, primary, autosomal recessive, 22Jan 12, 2022
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome7Dec 15, 2021
Hypoalphalipoproteinemia, primary, 27Jun 25, 2022
Hypoalphalipoproteinemia, primary, 2, intermediate7Jun 25, 2022
Hypogonadotropic hypogonadism 1 with or without anosmia2Oct 18, 2021
Hypogonadotropic hypogonadism 13 with or without anosmia2Oct 18, 2021
Hypogonadotropic hypogonadism 14 with or without anosmia9May 15, 2022
Hypogonadotropic hypogonadism 15 with or without anosmia1May 12, 2021
Hypogonadotropic hypogonadism 18 with or without anosmia4Oct 18, 2021
Hypogonadotropic hypogonadism 19 with or without anosmia1Sep 11, 2021
Hypogonadotropic hypogonadism 21 with or without anosmia1Sep 21, 2021
Hypogonadotropic hypogonadism 24 without anosmia1Sep 21, 2021
Hypogonadotropic hypogonadism 25 with anosmia6Nov 17, 2021
Hypogonadotropic hypogonadism 3 with or without anosmia2Dec 8, 2021
Hypogonadotropic hypogonadism 5 with or without anosmia5Aug 23, 2021
Hypogonadotropic hypogonadism 8 with or without anosmia2Aug 2, 2021
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome3Sep 1, 2021
Hypohidrotic X-linked ectodermal dysplasia4Sep 11, 2021
Hypokalemic periodic paralysis, type 114Aug 10, 2021
Hypomagnesemia, seizures, and intellectual disability 12Sep 1, 2021
Hypomagnesemia, seizures, and intellectual disability 213Jun 25, 2022
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism3Sep 11, 2021
Hypomyelinating leukodystrophy 102Dec 15, 2021
Hypomyelinating leukodystrophy 125May 15, 2022
Hypomyelinating leukodystrophy 41Sep 21, 2021
Hypomyelinating leukodystrophy 61May 15, 2022
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2Dec 8, 2021
Hypomyelinating leukodystrophy 95Dec 15, 2021
Hypomyelination and Congenital Cataract1Sep 21, 2021
Hypomyelination with brain stem and spinal cord involvement and leg spasticity2Sep 11, 2021
Hypoparathyroidism, deafness, renal disease syndrome1Sep 21, 2021
Hypoparathyroidism, familial isolated 12Dec 15, 2021
Hypophosphatemic nephrolithiasis/osteoporosis 12Jan 12, 2022
Hypophosphatemic rickets, autosomal recessive, 13Sep 11, 2021
Hypophosphatemic rickets, autosomal recessive, 22Sep 11, 2021
Hypopigmentation, organomegaly, and delayed myelination and development11Aug 2, 2021
Hypopigmentation-punctate palmoplantar keratoderma syndrome2Sep 11, 2021
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1Dec 15, 2021
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1Dec 4, 2021
Hypothalamic hypothyroidism3Feb 21, 2022
Hypothyroidism due to TSH receptor mutations6Mar 2, 2022
Hypothyroidism, congenital, nongoitrous, 22Dec 4, 2021
Hypothyroidism, congenital, nongoitrous, 84Jan 25, 2022
Hypothyroidism, congenital, nongoitrous, 92Oct 18, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 15Nov 17, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 26May 15, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Jan 25, 2022
Hypouricemia, renal, 28Jan 12, 2022
IL21-related infantile inflammatory bowel disease1Oct 18, 2021
IMAGe syndrome1Aug 23, 2021
Ichthyosis bullosa of Siemens1Oct 18, 2021
Ichthyosis, congenital, autosomal recessive 142Jan 25, 2022
Ichthyosis, hystrix-like, with hearing loss1Aug 15, 2021
Idiopathic Pulmonary Fibrosis7Jan 10, 2022
Imerslund-Grasbeck syndrome type 128Sep 11, 2021
Immunodeficiency 1046Dec 15, 2021
Immunodeficiency 11b with atopic dermatitis7Aug 10, 2021
Immunodeficiency 142Dec 4, 2021
Immunodeficiency 14b, autosomal recessive2Dec 4, 2021
Immunodeficiency 15a1Oct 12, 2021
Immunodeficiency 251Aug 10, 2021
Immunodeficiency 27A1Sep 21, 2021
Immunodeficiency 282Sep 21, 2021
Immunodeficiency 31B1Jan 12, 2022
Immunodeficiency 32B1Oct 18, 2021
Immunodeficiency 355May 15, 2022
Immunodeficiency 363Dec 4, 2021
Immunodeficiency 3910Aug 2, 2021
Immunodeficiency 453Sep 21, 2021
Immunodeficiency 471Aug 9, 2021
Immunodeficiency 512Oct 18, 2021
Immunodeficiency 571Dec 15, 2021
Immunodeficiency 602Aug 9, 2021
Immunodeficiency 63 with lymphoproliferation and autoimmunity4Oct 18, 2021
Immunodeficiency 641Dec 15, 2021
Immunodeficiency 691Sep 21, 2021
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia4Dec 15, 2021
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia4Dec 15, 2021
Immunodeficiency 797Aug 10, 2021
Immunodeficiency 881Jan 25, 2022
Immunodeficiency due to CD25 deficiency2Oct 18, 2021
Immunodeficiency, common variable, 13Sep 21, 2021
Immunodeficiency, common variable, 103Nov 24, 2021
Immunodeficiency, common variable, 123Nov 24, 2021
Immunodeficiency, common variable, 142Oct 18, 2021
Immunodeficiency, common variable, 23Feb 21, 2022
Immunodeficiency, common variable, 32Aug 10, 2021
Immunodeficiency, common variable, 76Sep 11, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 15Sep 11, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 32Aug 10, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 42Sep 21, 2021
Immunoglobulin-mediated membranoproliferative glomerulonephritis2Sep 11, 2021
Inclusion body myopathy and brain white matter abnormalities26Jun 25, 2022
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 14May 15, 2022
Indifference to pain, congenital, autosomal dominant4May 15, 2022
Infantile GM1 gangliosidosis9Sep 21, 2021
Infantile bilateral striatal necrosis3Dec 4, 2021
Infantile cerebellar-retinal degeneration6Aug 4, 2021
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly6Jul 20, 2021
Infantile convulsions and choreoathetosis1Dec 8, 2021
Infantile hypophosphatasia22Aug 11, 2021
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome2Jan 25, 2022
Infantile liver failure syndrome 214Nov 17, 2021
Infantile liver failure syndrome 33Dec 15, 2021
Infantile nephronophthisis2Oct 18, 2021
Infantile-onset X-linked spinal muscular atrophy4May 15, 2022
Infantile-onset ascending hereditary spastic paralysis10Aug 4, 2021
Inflammatory bowel disease, immunodeficiency, and encephalopathy2Feb 21, 2022
Inflammatory skin and bowel disease, neonatal, 17Aug 4, 2021
Inflammatory skin and bowel disease, neonatal, 26Sep 11, 2021
Intellectual developmental disorder 595Aug 10, 2021
Intellectual developmental disorder 60 with seizures8Jun 25, 2022
Intellectual developmental disorder 612Nov 10, 2021
Intellectual developmental disorder 621Sep 11, 2021
Intellectual developmental disorder and retinitis pigmentosa; IDDRP8Dec 15, 2021
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature4Dec 15, 2021
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures2Dec 4, 2021
Intellectual developmental disorder with cardiac defects and dysmorphic facies2Oct 18, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Sep 21, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1Aug 9, 2021
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies2Dec 4, 2021
Intellectual developmental disorder with hypertelorism and distinctive facies1Aug 10, 2021
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Aug 23, 2021
Intellectual developmental disorder with impaired language and dysmorphic facies1Sep 11, 2021
Intellectual developmental disorder with macrocephaly, seizures, and speech delay2Dec 4, 2021
Intellectual developmental disorder with neuropsychiatric features3Jan 12, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Dec 15, 2021
Intellectual developmental disorder with poor growth and with or without seizures or ataxia13Aug 2, 2021
Intellectual developmental disorder with severe speech and ambulation defects1Aug 4, 2021
Intellectual developmental disorder, X-linked 1083Jan 12, 2022
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type4Nov 24, 2021
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly13Feb 21, 2022
Intellectual developmental disorder, autosomal recessive 672Sep 11, 2021
Intellectual developmental disorder, autosomal recessive 681Feb 21, 2022
Intellectual developmental disorder, autosomal recessive 691May 15, 2022
Intellectual developmental disorder, autosomal recessive 715Aug 4, 2021
Intellectual disability, FRA12A type6Sep 11, 2021
Intellectual disability, X-linked 1005Oct 18, 2021
Intellectual disability, X-linked 1011Nov 10, 2021
Intellectual disability, X-linked 1042Sep 21, 2021
Intellectual disability, X-linked 1072Sep 11, 2021
Intellectual disability, X-linked 191Dec 15, 2021
Intellectual disability, X-linked 211Oct 18, 2021
Intellectual disability, X-linked 301Dec 4, 2021
Intellectual disability, X-linked 411Sep 21, 2021
Intellectual disability, X-linked 501Jan 25, 2022
Intellectual disability, X-linked 581Mar 2, 2022
Intellectual disability, X-linked 631Aug 4, 2021
Intellectual disability, X-linked 934Aug 9, 2021
Intellectual disability, X-linked 991May 15, 2022
Intellectual disability, X-linked 99, syndromic, female-restricted1May 15, 2022
Intellectual disability, X-linked syndromic, Turner type3Sep 21, 2021
Intellectual disability, X-linked, syndromic, 351Dec 15, 2021
Intellectual disability, X-linked, syndromic, Bain type1Sep 21, 2021
Intellectual disability, anterior maxillary protrusion, and strabismus1Jan 12, 2022
Intellectual disability, autosomal dominant 1310Sep 11, 2021
Intellectual disability, autosomal dominant 1445Jun 25, 2022
Intellectual disability, autosomal dominant 16604Jan 12, 2022
Intellectual disability, autosomal dominant 248Aug 2, 2021
Intellectual disability, autosomal dominant 291Jan 10, 2022
Intellectual disability, autosomal dominant 33Aug 10, 2021
Intellectual disability, autosomal dominant 304Aug 2, 2021
Intellectual disability, autosomal dominant 382Sep 11, 2021
Intellectual disability, autosomal dominant 394Aug 2, 2021
Intellectual disability, autosomal dominant 411Jan 25, 2022
Intellectual disability, autosomal dominant 432Sep 21, 2021
Intellectual disability, autosomal dominant 462Oct 18, 2021
Intellectual disability, autosomal dominant 471Jan 12, 2022
Intellectual disability, autosomal dominant 482Dec 15, 2021
Intellectual disability, autosomal dominant 52Jan 25, 2022
Intellectual disability, autosomal dominant 511Jan 25, 2022
Intellectual disability, autosomal dominant 522Aug 9, 2021
Intellectual disability, autosomal dominant 535Aug 10, 2021
Intellectual disability, autosomal dominant 5410Aug 10, 2021
Intellectual disability, autosomal dominant 55, with seizures1Dec 4, 2021
Intellectual disability, autosomal dominant 562Sep 1, 2021
Intellectual disability, autosomal dominant 571Feb 21, 2022
Intellectual disability, autosomal dominant 582Jan 10, 2022
Intellectual disability, autosomal dominant 64Sep 21, 2021
Intellectual disability, autosomal dominant 84Sep 21, 2021
Intellectual disability, autosomal dominant 91Oct 18, 2021
Intellectual disability, autosomal recessive 12Dec 8, 2021
Intellectual disability, autosomal recessive 122Jan 12, 2022
Intellectual disability, autosomal recessive 137Feb 21, 2022
Intellectual disability, autosomal recessive 23Sep 11, 2021
Intellectual disability, autosomal recessive 32Aug 10, 2021
Intellectual disability, autosomal recessive 421Dec 4, 2021
Intellectual disability, autosomal recessive 431Oct 18, 2021
Intellectual disability, autosomal recessive 465Nov 17, 2021
Intellectual disability, autosomal recessive 477Sep 21, 2021
Intellectual disability, autosomal recessive 536Dec 4, 2021
Intellectual disability, autosomal recessive 547Feb 21, 2022
Intellectual disability, autosomal recessive 561May 15, 2022
Intellectual disability, autosomal recessive 612Dec 15, 2021
Intellectual disability, autosomal recessive 635Aug 10, 2021
Intellectual disability, autosomal recessive 644Oct 18, 2021
Intellectual disability, autosomal recessive 655Oct 18, 2021
Intellectual disability, short stature, facial anomalies, and joint dislocations1Sep 21, 2021
Intellectual disability-epilepsy-extrapyramidal syndrome8Aug 2, 2021
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Jan 10, 2022
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome13Aug 9, 2021
Intellectual disability-hypotonic facies syndrome, X-linked, 16Aug 11, 2021
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome6Dec 8, 2021
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Sep 21, 2021
Intellectual disability-strabismus syndrome1Aug 2, 2021
Interstitial lung disease due to ABCA3 deficiency6Aug 2, 2021
Intestinal hypomagnesemia 17Feb 21, 2022
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency6Sep 21, 2021
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency15Dec 8, 2021
Iodotyrosyl coupling defect17Feb 21, 2022
Iron-refractory iron deficiency anemia9Feb 21, 2022
Isolated anhidrosis with normal sweat glands7Oct 18, 2021
Isolated cryptophthalmia5Sep 21, 2021
Isolated focal non-epidermolytic palmoplantar keratoderma9Feb 21, 2022
Isolated growth hormone deficiency, type 52Dec 15, 2021
Isolated lutropin deficiency7Oct 18, 2021
Isolated microphthalmia 24Jul 20, 2021
Isolated microphthalmia 51Nov 10, 2021
Isolated microphthalmia 62Dec 8, 2021
Isolated neonatal sclerosing cholangitis4Sep 11, 2021
Isovaleryl-CoA dehydrogenase deficiency10Aug 15, 2021
Jawad syndrome3Dec 15, 2021
Jervell and Lange-Nielsen syndrome 21Oct 18, 2021
Johanson-Blizzard syndrome4May 15, 2022
Joint laxity, short stature, and myopia1Sep 21, 2021
Joubert syndrome 16Oct 18, 2021
Joubert syndrome 102Dec 4, 2021
Joubert syndrome 141Feb 21, 2022
Joubert syndrome 151Aug 23, 2021
Joubert syndrome 171Aug 10, 2021
Joubert syndrome 182Jan 25, 2022
Joubert syndrome 24Feb 21, 2022
Joubert syndrome 236Oct 18, 2021
Joubert syndrome 243Jan 25, 2022
Joubert syndrome 2510Aug 23, 2021
Joubert syndrome 273Aug 9, 2021
Joubert syndrome 2810Aug 30, 2021
Joubert syndrome 34Aug 4, 2021
Joubert syndrome 302Aug 9, 2021
Joubert syndrome 312Aug 23, 2021
Joubert syndrome 323Jan 25, 2022
Joubert syndrome 332Dec 4, 2021
Joubert syndrome 351Aug 9, 2021
Joubert syndrome 389Oct 18, 2021
Joubert syndrome 526Aug 30, 2021
Joubert syndrome 62Feb 21, 2022
Joubert syndrome 713Jul 25, 2021
Joubert syndrome 913Aug 10, 2021
Joubert syndrome with renal defect1Dec 4, 2021
Juberg-Hayward syndrome2Jul 31, 2021
Junctional epidermolysis bullosa gravis of Herlitz80Oct 18, 2021
Junctional epidermolysis bullosa with pyloric atresia8Oct 18, 2021
Junctional epidermolysis bullosa, non-Herlitz type86Oct 18, 2021
Juvenile arthritis due to defect in LACC11Oct 18, 2021
Juvenile nephropathic cystinosis1Aug 30, 2021
Juvenile primary lateral sclerosis10Aug 4, 2021
Juvenile retinoschisis1Jun 16, 2021
KBG syndrome115Jun 7, 2022
Kabuki syndrome 11Oct 18, 2021
Kabuki syndrome 23Oct 18, 2021
Kartagener syndrome8Aug 30, 2021
Karyomegalic interstitial nephritis3Sep 21, 2021
Keipert syndrome3Sep 21, 2021
Keppen-Lubinsky syndrome2Oct 18, 2021
Keratitis fugax hereditaria3Nov 24, 2021
Keratoconus 11May 15, 2022
Keratoderma with scleroatrophy of the extremities4Jan 12, 2022
Keratolytic winter erythema2Sep 11, 2021
Keratosis follicularis17Jun 25, 2022
Keratosis palmoplantaris striata 28Sep 11, 2021
Keratosis pilaris12Oct 18, 2021
Ketoacidosis due to monocarboxylate transporter-1 deficiency2Jan 10, 2022
Keutel syndrome1Nov 10, 2021
Khan-Khan-Katsanis syndrome2Nov 17, 2021
Kindler syndrome6Sep 21, 2021
King Denborough syndrome31Dec 15, 2021
Kleefstra syndrome 13Sep 11, 2021
Kleefstra syndrome 21Oct 18, 2021
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome14Nov 17, 2021
Knobloch syndrome11Sep 1, 2021
Kostmann syndrome1Jul 17, 2021
Krabbe disease, atypical, due to saposin A deficiency11Dec 8, 2021
Kufor-Rakeb syndrome8Aug 9, 2021
L-2-hydroxyglutaric aciduria3Oct 18, 2021
L-ferritin deficiency1Sep 21, 2021
Lafora disease2Nov 24, 2021
Lamb-Shaffer syndrome2Jan 12, 2022
Laron-type isolated somatotropin defect2Sep 21, 2021
Larsen-like syndrome, B3GAT3 type1Aug 9, 2021
Laryngo-onycho-cutaneous syndrome25Aug 15, 2021
Lateral meningocele syndrome19Nov 24, 2021
Laurence-Moon syndrome13Dec 8, 2021
Leber congenital amaurosis 12Sep 21, 2021
Leber congenital amaurosis 136Aug 30, 2021
Leber congenital amaurosis 155May 15, 2022
Leber congenital amaurosis 196May 15, 2022
Leber congenital amaurosis 29Sep 1, 2021
Leber congenital amaurosis 32Jan 12, 2022
Leber congenital amaurosis 55Jul 31, 2021
Leber congenital amaurosis 676Dec 29, 2021
Leber congenital amaurosis 826Aug 30, 2021
Left ventricular noncompaction 105Nov 10, 2021
Left ventricular noncompaction 71Nov 10, 2021
Left ventricular noncompaction 82Dec 8, 2021
Legius syndrome4Jan 12, 2022
Lenz-Majewski hyperostosis syndrome3Dec 8, 2021
Leprechaunism syndrome5Oct 18, 2021
Lethal Kniest-like syndrome46Sep 21, 2021
Lethal acantholytic epidermolysis bullosa8Sep 11, 2021
Lethal arthrogryposis-anterior horn cell disease syndrome5Jul 31, 2021
Lethal congenital contracture syndrome 15Jul 31, 2021
Lethal congenital contracture syndrome 111Sep 21, 2021
Lethal congenital contracture syndrome 24Sep 11, 2021
Lethal congenital contracture syndrome 34Dec 4, 2021
Lethal congenital contracture syndrome 49Nov 10, 2021
Lethal congenital contracture syndrome 62May 15, 2022
Lethal congenital contracture syndrome 73Sep 1, 2021
Lethal congenital glycogen storage disease of heart1Dec 8, 2021
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome3Oct 18, 2021
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome2Nov 10, 2021
Lethal multiple pterygium syndrome4Aug 23, 2021
Lethal osteosclerotic bone dysplasia11Sep 21, 2021
Leukocyte adhesion deficiency 15Oct 18, 2021
Leukocyte adhesion deficiency type II2Jan 12, 2022
Leukodystrophy and acquired microcephaly with or without dystonia;9Dec 8, 2021
Leukodystrophy, hypomyelinating, 141May 15, 2022
Leukodystrophy, hypomyelinating, 155Sep 11, 2021
Leukodystrophy, hypomyelinating, 164Feb 21, 2022
Leukodystrophy, hypomyelinating, 19, transient infantile3Feb 21, 2022
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2Jan 10, 2022
Leukoencephalopathy, progressive, with ovarian failure9Aug 2, 2021
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome7Sep 11, 2021
Lewy body dementia1Jan 12, 2022
Li-Fraumeni syndrome 11Aug 24, 2021
Liang-Wang syndrome1Oct 18, 2021
Lichtenstein-Knorr syndrome3Jan 12, 2022
Liddle syndrome 12Jan 10, 2022
Liddle syndrome 26Jan 10, 2022
Liddle syndrome 32Jan 10, 2022
Limb-girdle muscular dystrophy due to POMK deficiency1Dec 8, 2021
Lipid proteinosis2Sep 11, 2021
Lipoic acid synthetase deficiency2Oct 18, 2021
Lipoyl transferase 1 deficiency2Oct 18, 2021
Lissencephaly 103Aug 23, 2021
Lissencephaly 6 with microcephaly2Oct 18, 2021
Lissencephaly 9 with complex brainstem malformation2Nov 10, 2021
Lissencephaly due to LIS1 mutation1Dec 4, 2021
Lissencephaly due to TUBA1A mutation2May 15, 2022
Loeys-Dietz syndrome 11Feb 21, 2022
Loeys-Dietz syndrome 21Feb 21, 2022
Long QT syndrome 1184Jun 7, 2022
Long QT syndrome 121Jan 12, 2022
Long QT syndrome 135Oct 18, 2021
Long QT syndrome 152Aug 10, 2021
Long QT syndrome 162Aug 10, 2021
Long QT syndrome 25Oct 18, 2021
Long QT syndrome 51Oct 18, 2021
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency12Aug 15, 2021
Lower motor neuron syndrome with late-adult onset4Aug 23, 2021
Luscan-Lumish syndrome58Jul 28, 2022
Lymphatic malformation 634Dec 4, 2021
Lymphatic malformation 75Sep 11, 2021
Lymphatic malformation 82Aug 10, 2021
Lymphedema-posterior choanal atresia syndrome7Dec 15, 2021
Lymphoproliferative syndrome 22Aug 10, 2021
Lysinuric protein intolerance42Dec 29, 2021
Lysosomal acid lipase deficiency8Jul 20, 2021
MASA syndrome1Oct 18, 2021
MEDNIK syndrome1Aug 9, 2021
MEGF10-Related Myopathy2Nov 10, 2021
MEGF8-related Carpenter syndrome8Nov 10, 2021
MEHMO syndrome1Sep 11, 2021
MEND syndrome1Sep 11, 2021
MHC class I deficiency11Jan 25, 2022
MHC class II deficiency27Dec 15, 2021
MORM syndrome6Oct 18, 2021
MPI-CDG4Jul 25, 2021
MYH7-related late-onset scapuloperoneal muscular dystrophy2Nov 17, 2021
MYH7-related skeletal myopathy2Nov 17, 2021
MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY1Nov 17, 2021
MYPN-related myopathy10Nov 17, 2021
Macrocephaly, dysmorphic facies, and psychomotor retardation11Sep 21, 2021
Macrocephaly-autism syndrome1Dec 8, 2021
Macrocephaly-developmental delay syndrome1Oct 18, 2021
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome7Nov 10, 2021
Macrocephaly/megalencephaly syndrome, autosomal recessive2Jan 25, 2022
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss7Nov 17, 2021
Macular degeneration, X-linked atrophic3Dec 15, 2021
Macular degeneration, age-related, 31Sep 21, 2021
Macular degeneration, early-onset4Sep 21, 2021
Majeed syndrome1May 19, 2021
Malignant tumor of prostate3Aug 10, 2021
Mandibular hypoplasia-deafness-progeroid syndrome9Dec 8, 2021
Mandibulofacial dysostosis with alopecia2Sep 11, 2021
Mandibulofacial dysostosis-microcephaly syndrome3Sep 11, 2021
Maple syrup urine disease164Mar 6, 2022
Marden-Walker syndrome24Dec 4, 2021
Marinesco-Sjögren syndrome1Jan 10, 2022
Marshall syndrome16Sep 1, 2021
Martsolf syndrome3Dec 15, 2021
Martsolf syndrome 22Dec 15, 2021
Mast syndrome1Jan 12, 2022
Maturity-onset diabetes of the young type 101Aug 2, 2021
Maturity-onset diabetes of the young type 118Aug 9, 2021
Maturity-onset diabetes of the young type 39Sep 21, 2021
Maturity-onset diabetes of the young type 61Nov 24, 2021
Meacham syndrome18May 15, 2022
Meckel syndrome 132Feb 21, 2022
Meckel syndrome, type 15Aug 20, 2021
Meckel syndrome, type 105Aug 9, 2021
Meckel syndrome, type 24Feb 21, 2022
Meckel syndrome, type 32Feb 21, 2022
Meckel syndrome, type 416Aug 23, 2021
Meckel syndrome, type 512Jul 25, 2021
Meckel syndrome, type 613Aug 10, 2021
Meckel syndrome, type 83Jan 25, 2022
Meckel syndrome, type 93Aug 9, 2021
Medium-chain acyl-coenzyme A dehydrogenase deficiency14Aug 11, 2021
Meester-Loeys syndrome5Aug 9, 2021
Megaconial type congenital muscular dystrophy1Aug 23, 2021
Megacystis, microcolon, hypoperistalsis syndrome6Nov 17, 2021
Megacystis-microcolon-intestinal hypoperistalsis syndrome 212Nov 10, 2021
Megacystis-microcolon-intestinal hypoperistalsis syndrome 54Aug 4, 2021
Megalencephalic leukoencephalopathy with subcortical cysts 144Nov 10, 2021
Megalencephalic leukoencephalopathy with subcortical cysts 2A2Sep 21, 2021
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2Sep 21, 2021
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 14Dec 4, 2021
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32Aug 10, 2021
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1Jan 10, 2022
Meier-Gorlin syndrome 23Dec 4, 2021
Meier-Gorlin syndrome 31Dec 4, 2021
Meier-Gorlin syndrome 44Aug 23, 2021
Meier-Gorlin syndrome 81Nov 10, 2021
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency5Oct 18, 2021
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency6Aug 2, 2021
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1Oct 18, 2021
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1Jan 12, 2022
Menke-Hennekam syndrome 25Sep 11, 2021
Menkes kinky-hair syndrome4Aug 11, 2021
Meretoja syndrome3Sep 21, 2021
Merosin deficient congenital muscular dystrophy12Oct 18, 2021
Mesoaxial synostotic syndactyly with phalangeal reduction1Aug 2, 2021
Metabolic myopathy due to lactate transporter defect2Jan 10, 2022
Metachromatic leukodystrophy13Aug 30, 2021
Metaphyseal anadysplasia 28Nov 10, 2021
Metaphyseal chondrodysplasia, Jansen type2Dec 15, 2021
Metaphyseal chondrodysplasia, Schmid type1Sep 1, 2021
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome6Sep 11, 2021
Methylcobalamin deficiency type cblE8Nov 10, 2021
Methylcobalamin deficiency type cblG7Nov 10, 2021
Methylmalonate semialdehyde dehydrogenase deficiency1Aug 4, 2021
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency2Nov 10, 2021
Methylmalonic acidemia with homocystinuria, type cblJ5Aug 4, 2021
Methylmalonic acidemia with homocystinuria, type cblX8Sep 21, 2021
Methylmalonic aciduria and homocystinuria type cblD2Nov 10, 2021
Methylmalonic aciduria and homocystinuria type cblF2Oct 18, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency9Nov 10, 2021
Methylmalonic aciduria, cblA type6Aug 20, 2021
Methylmalonic aciduria, cblB type6Aug 30, 2021
Microcephalic osteodysplastic dysplasia, Saul-Wilson type4Sep 1, 2021
Microcephalic osteodysplastic primordial dwarfism type II16Dec 4, 2021
Microcephalic primordial dwarfism due to RTTN deficiency9Dec 15, 2021
Microcephalic primordial dwarfism due to ZNF335 deficiency31May 15, 2022
Microcephaly 1, primary, autosomal recessive10Nov 10, 2021
Microcephaly 11, primary, autosomal recessive5Dec 4, 2021
Microcephaly 13, primary, autosomal recessive4Aug 23, 2021
Microcephaly 14, primary, autosomal recessive1Dec 15, 2021
Microcephaly 16, primary, autosomal recessive10Aug 9, 2021
Microcephaly 17, primary, autosomal recessive6Aug 23, 2021
Microcephaly 18, primary, autosomal dominant2May 15, 2022
Microcephaly 19, primary, autosomal recessive3Sep 11, 2021
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations46May 15, 2022
Microcephaly 20, primary, autosomal recessive3Oct 18, 2021
Microcephaly 21, primary, autosomal recessive8Nov 17, 2021
Microcephaly 22, primary, autosomal recessive5Nov 17, 2021
Microcephaly 23, primary, autosomal recessive2Nov 17, 2021
Microcephaly 25, primary, autosomal recessive1Aug 10, 2021
Microcephaly 3, primary, autosomal recessive8Aug 10, 2021
Microcephaly 4, primary, autosomal recessive12Aug 10, 2021
Microcephaly 5, primary, autosomal recessive14Aug 9, 2021
Microcephaly 6, primary, autosomal recessive4Aug 23, 2021
Microcephaly 7, primary, autosomal recessive1Jan 12, 2022
Microcephaly 9, primary, autosomal recessive1Aug 23, 2021
Microcephaly and chorioretinopathy 16May 15, 2022
Microcephaly and chorioretinopathy 22Dec 8, 2021
Microcephaly and chorioretinopathy 32May 15, 2022
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome10Aug 1, 2022
Microcephaly, growth deficiency, seizures, and brain malformations5May 15, 2022
Microcephaly, growth restriction, and increased sister chromatid exchange 26Feb 21, 2022
Microcephaly, normal intelligence and immunodeficiency717Dec 29, 2021
Microcephaly, seizures, and developmental delay1Dec 8, 2021
Microcephaly-capillary malformation syndrome2Jan 12, 2022
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome1Aug 30, 2021
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2Jan 12, 2022
Microcephaly-thin corpus callosum-intellectual disability syndrome11Jan 25, 2022
Microcytic anemia with liver iron overload3Jan 10, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome13Feb 21, 2022
Microphthalmia with brain and digit anomalies4Aug 9, 2021
Microphthalmia with limb anomalies6Jan 12, 2022
Microphthalmia, isolated, with coloboma 101Dec 15, 2021
Microphthalmia, isolated, with coloboma 33Jul 20, 2021
Microphthalmia, isolated, with coloboma 51Jan 10, 2022
Microphthalmia, isolated, with coloboma 95Feb 21, 2022
Microspherophakia4Nov 10, 2021
Migraine, familial hemiplegic, 120Aug 10, 2021
Migraine, familial hemiplegic, 268Jun 25, 2022
Miller syndrome3Sep 11, 2021
Mirror movements 16Sep 11, 2021
Mismatch repair cancer syndrome 44Dec 8, 2021
Mitchell syndrome7Aug 11, 2021
Mitochondrial DNA deletion syndrome with progressive myopathy1Sep 11, 2021
Mitochondrial DNA depletion syndrome 15May 15, 2022
Mitochondrial DNA depletion syndrome 111Nov 10, 2021
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)4Dec 4, 2021
Mitochondrial DNA depletion syndrome 16 (hepatic type)3Dec 8, 2021
Mitochondrial DNA depletion syndrome 183Jan 10, 2022
Mitochondrial DNA depletion syndrome 31Sep 11, 2021
Mitochondrial DNA depletion syndrome 4b5Dec 8, 2021
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria3Jan 25, 2022
Mitochondrial DNA depletion syndrome, myopathic form3Feb 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 102Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 112Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 141Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 153Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 165Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 173Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 191Sep 21, 2021
Mitochondrial complex 1 deficiency, nuclear type 22Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 212Dec 4, 2021
Mitochondrial complex 1 deficiency, nuclear type 223Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 262Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 32Aug 2, 2021
Mitochondrial complex 1 deficiency, nuclear type 311Feb 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 331Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 53Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 72Nov 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 95Aug 2, 2021
Mitochondrial complex 2 deficiency, nuclear type 21Jan 10, 2022
Mitochondrial complex 2 deficiency, nuclear type 34Jan 10, 2022
Mitochondrial complex 2 deficiency, nuclear type 42Jan 10, 2022
Mitochondrial complex 3 deficiency, nuclear type 102May 15, 2022
Mitochondrial complex 4 deficiency, nuclear type 171Aug 9, 2021
Mitochondrial complex I deficiency, nuclear type 14Nov 17, 2021
Mitochondrial complex II deficiency, nuclear type 14Aug 2, 2021
Mitochondrial complex III deficiency nuclear type 15Aug 30, 2021
Mitochondrial complex III deficiency nuclear type 22Mar 2, 2022
Mitochondrial complex III deficiency nuclear type 31May 15, 2022
Mitochondrial complex III deficiency nuclear type 51May 15, 2022
Mitochondrial complex III deficiency nuclear type 63Sep 11, 2021
Mitochondrial complex III deficiency nuclear type 91Aug 10, 2021
Mitochondrial complex V (ATP synthase) deficiency nuclear type 22Feb 21, 2022
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)3Dec 8, 2021
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy2Sep 21, 2021
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1Nov 10, 2021
Mitochondrial myopathy-lactic acidosis-deafness syndrome2Dec 8, 2021
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency4Sep 11, 2021
Mitochondrial trifunctional protein deficiency2Aug 15, 2021
Miyoshi muscular dystrophy 188Sep 11, 2021
Miyoshi muscular dystrophy 339Jun 25, 2022
Monocytopenia with susceptibility to infections3Sep 21, 2021
Mosaic variegated aneuploidy syndrome 14Aug 10, 2021
Mosaic variegated aneuploidy syndrome 32Feb 21, 2022
Mowat-Wilson syndrome128Dec 29, 2021
Moyamoya disease with early-onset achalasia1Sep 21, 2021
Mucolipidosis type II21Sep 21, 2021
Mucolipidosis type III gamma41Dec 29, 2021
Mucolipidosis type IV20Aug 20, 2021
Mucopolysaccharidosis type 68Aug 30, 2021
Mucopolysaccharidosis type 74Sep 21, 2021
Mucopolysaccharidosis, MPS-I-H/S15Aug 2, 2021
Mucopolysaccharidosis, MPS-I-S14Aug 2, 2021
Mucopolysaccharidosis, MPS-II36Nov 24, 2021
Mucopolysaccharidosis, MPS-III-A166Dec 29, 2021
Mucopolysaccharidosis, MPS-III-B4Nov 17, 2021
Mucopolysaccharidosis, MPS-III-C5Aug 15, 2021
Mucopolysaccharidosis, MPS-III-D7Sep 21, 2021
Mucopolysaccharidosis, MPS-IV-A136Dec 29, 2021
Mucopolysaccharidosis, MPS-IV-B7Sep 21, 2021
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders2May 15, 2022
Mulibrey nanism syndrome1Feb 21, 2022
Mullegama-Klein-Martinez syndrome1Jan 12, 2022
Multicentric osteolysis, nodulosis, and arthropathy6Nov 10, 2021
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome2Aug 23, 2021
Multiple acyl-CoA dehydrogenase deficiency11Sep 11, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 16Dec 4, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 34Dec 4, 2021
Multiple congenital exostosis2Sep 21, 2021
Multiple cutaneous and mucosal venous malformations7Feb 21, 2022
Multiple endocrine neoplasia type 41Aug 23, 2021
Multiple endocrine neoplasia, type 2a5Dec 15, 2021
Multiple endocrine neoplasia, type 2b5Dec 15, 2021
Multiple epiphyseal dysplasia type 47Sep 1, 2021
Multiple epiphyseal dysplasia, Al-Gazali type12Oct 18, 2021
Multiple fibrofolliculomas2Sep 21, 2021
Multiple mitochondrial dysfunctions syndrome 11Nov 24, 2021
Multiple mitochondrial dysfunctions syndrome 32Sep 21, 2021
Multiple mitochondrial dysfunctions syndrome 61Dec 8, 2021
Multiple sulfatase deficiency20Jan 25, 2022
Multiple synostoses syndrome 34Sep 21, 2021
Mungan syndrome3Dec 15, 2021
Muscular dystrophy, limb-girdle, autosomal dominant 418Aug 30, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 2312Oct 18, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 411Sep 21, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A114Dec 8, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141Sep 21, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A24Dec 8, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A322Dec 8, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A58Aug 30, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91Sep 11, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101Feb 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Aug 9, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Dec 8, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82Dec 8, 2021
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B114Dec 8, 2021
Muscular dystrophy-dystro