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Johns Hopkins Genomics (Johns Hopkins University), JHG

General information

Johns Hopkins Genomics, JHG
Johns Hopkins University
1812 Ashland Ave, Suite 200
Baltimore
Maryland
United States - 21205
http://jhgenomics.jhmi.edu/
Organization ID: 506823

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1372

Gene

GeneSubmissionsLast Updated
ABCA355Jan 28, 2024
ABCA43May 4, 2021
ABCB11Sep 8, 2022
ABCC82Jul 25, 2023
ABCD136Jul 25, 2023
ACD3Sep 8, 2022
ACTG21Jan 14, 2021
ACTN11Sep 8, 2022
ADA2May 28, 2020
ADA24Sep 8, 2022
ADAR1Aug 4, 2020
AIRE1Sep 2, 2020
ALAS21Jan 28, 2024
ALMS13Apr 2, 2021
ALPL3Jun 3, 2021
ANKLE21Mar 6, 2020
ANKRD261Jul 30, 2021
ANLN1Aug 30, 2019
AP3B14May 8, 2019
APC1Nov 3, 2020
APOB1May 4, 2021
ARCN11Apr 2, 2021
ARHGAP311Jul 25, 2023
ASPM3Jan 28, 2024
ATM2May 4, 2021
ATP13A32Mar 6, 2023
ATP1A32Sep 8, 2022
ATP7B7Jul 25, 2023
ATRIP1Jul 31, 2019
ATRIP-TREX11Jul 31, 2019
AUTS22Feb 3, 2021
AVPR21Oct 13, 2020
BBS51May 28, 2020
BICC13Mar 6, 2023
BMPR1B1Sep 13, 2021
BMPR24Jul 25, 2023
BMS11Sep 13, 2021
BPTF1Jul 31, 2019
BRCA14Jan 6, 2022
BRCA25Sep 8, 2022
BTD2Jul 30, 2021
C10orf1051Jan 6, 2022
C1R1May 4, 2021
C1S1Jul 30, 2021
C33Jul 25, 2023
C61Sep 8, 2022
CA121Nov 14, 2019
CACNA1A1Oct 13, 2020
CACNA1D1May 4, 2021
CACNA1G1Aug 4, 2020
CACNA1S3Jan 28, 2024
CAPN101Sep 8, 2022
CASR1May 4, 2021
CBL1Sep 13, 2021
CC2D2A1May 28, 2020
CCDC221Sep 8, 2022
CCDC392Feb 3, 2021
CCDC405Sep 8, 2022
CCDC651Jan 6, 2022
CCDST5Mar 6, 2023
CCNH2Jul 25, 2023
CD464Mar 6, 2023
CDH151Dec 5, 2019
CDH232Jan 6, 2022
CDON1Sep 8, 2022
CEP1642Sep 13, 2021
CERS11Aug 4, 2020
CFAP2981Jul 30, 2021
CFAP298-TCP10L1Jul 30, 2021
CFB1Apr 2, 2021
CFTR335Jan 28, 2024
CFTR-AS143Jan 28, 2024
CHD21Nov 14, 2019
CHD41Jan 28, 2024
CHD72Mar 6, 2023
CHD81Mar 6, 2023
CHRNE1Mar 6, 2020
CLCN53Mar 6, 2023
CLTC1Jan 28, 2024
COL10A11Aug 30, 2019
COL11A11Jan 14, 2021
COL1A16Mar 6, 2023
COL1A22Jul 30, 2021
COL2A13Jul 30, 2021
COL3A14Jul 25, 2023
COL4A12Jul 30, 2021
COL4A21Aug 4, 2020
COL4A36Jan 28, 2024
COL4A41Jan 28, 2024
COL4A53Jan 28, 2024
COL5A12Sep 8, 2022
COL9A21Jun 3, 2021
COL9A31Nov 3, 2020
COPA3Jan 28, 2024
CPLANE12Nov 3, 2020
CPT21Sep 8, 2022
CR11Sep 8, 2022
CR21Mar 6, 2020
CRB22Jan 28, 2024
CREBBP2Sep 8, 2022
CSF2RA3May 8, 2019
CSF2RB4Sep 8, 2022
CSNK2A11May 28, 2020
CTC16Jul 30, 2021
CTNS1May 4, 2021
DDX3X1May 4, 2021
DDX413Sep 13, 2021
DHCR71May 28, 2020
DIPK1A1Dec 1, 2020
DKC12Apr 1, 2019
DLL41Jul 25, 2023
DNAAF14Mar 6, 2023
DNAAF31Jan 28, 2024
DNAAF3-AS11Jan 28, 2024
DNAAF41Jun 3, 2021
DNAAF4-CCPG11Jun 3, 2021
DNAAF51Jan 28, 2024
DNAAF61Feb 3, 2021
DNAH16Jan 28, 2024
DNAH1113Jan 28, 2024
DNAH521Jan 28, 2024
DNAH85Sep 8, 2022
DNAH8-AS11Feb 3, 2021
DNAH92May 15, 2023
DNAI15Jan 28, 2024
DNAJB132Sep 8, 2022
DNASE11Sep 8, 2022
DNMT3A1May 15, 2023
DOCK82Sep 8, 2022
DRC11Mar 6, 2023
DSC21Jan 28, 2024
DSP1Oct 13, 2020
DTNA1May 28, 2020
DYNC2H14Sep 8, 2022
DYSF2Aug 4, 2020
EDA1Jan 28, 2024
EGLN11Apr 2, 2021
EHHADH1Jan 6, 2022
EIF2AK41Mar 6, 2023
ELANE2Oct 13, 2020
ENG3Sep 8, 2022
EPAS11Jan 28, 2024
EPHB41Sep 8, 2022
ERBB21Jan 28, 2024
ERCC22Jun 3, 2021
ERF2Aug 4, 2020
ETV61Jan 14, 2021
EYA12Mar 6, 2023
F111Sep 8, 2022
F81Sep 8, 2022
FANCA4Sep 8, 2022
FANCB1Jan 28, 2024
FANCE1Sep 2, 2020
FAT21May 28, 2020
FBN18Mar 6, 2023
FBXO111Aug 4, 2020
FERRY32Aug 4, 2020
FGA3Sep 8, 2022
FGFR11May 4, 2021
FGFR23Aug 4, 2020
FGFR33Jan 28, 2024
FIG41Aug 4, 2020
FLCN3Jul 25, 2023
FLG4Nov 3, 2020
FLG21Mar 6, 2023
FLI11Dec 1, 2020
FLNA5Jan 6, 2022
FLNB2Nov 3, 2020
FN14Sep 8, 2022
FOXF110Feb 3, 2021
FOXJ11Mar 6, 2023
FREM23Nov 3, 2020
G6PD3Jan 28, 2024
GAA2May 28, 2020
GABRD1Oct 13, 2020
GALK11May 28, 2020
GANAB1Jul 30, 2021
GATA26Jan 28, 2024
GATA31Aug 4, 2020
GATA51Sep 2, 2020
GATA61Jan 28, 2024
GATAD2B1Nov 14, 2019
GBA13Sep 8, 2022
GDF11Aug 4, 2020
GFI1B1Apr 2, 2021
GJA81Jan 28, 2024
GJB23May 15, 2023
GLA1Jan 28, 2024
GLB11Sep 8, 2022
GLI22Oct 13, 2020
GLI31Jul 30, 2021
GNAS15Jul 25, 2023
GP1BA2Sep 8, 2022
GPNMB1Nov 3, 2020
GTPBP32Aug 30, 2019
HBB2Mar 6, 2023
HMBS1Nov 14, 2019
HMGCS21Mar 6, 2023
HNRNPH21Sep 8, 2022
HNRNPK1Sep 8, 2022
HNRNPK-AS11Sep 8, 2022
HPS13Jan 6, 2022
HPS45Jan 28, 2024
HTRA11May 28, 2020
HYDIN5Sep 8, 2022
IDUA3Jan 28, 2024
IKZF11Aug 4, 2020
IL6R1Apr 2, 2021
INAVA1Aug 4, 2020
INSL62Jul 30, 2021
IQCE1Aug 4, 2020
ITGB43Oct 13, 2020
JAK22Jul 30, 2021
KAT6A1Apr 2, 2021
KCNJ12Oct 13, 2020
KCNK31Mar 6, 2023
KCNQ13Jan 28, 2024
KDM5B2Dec 5, 2019
KDM5C1Nov 14, 2019
KIAA05863Jul 25, 2023
KMT2C2Jan 28, 2024
KMT2D3May 28, 2020
LBR1Aug 30, 2019
LDLR1Jun 3, 2021
LIMS21Jun 3, 2021
LINS11Sep 8, 2022
LIX1L-AS11Jan 28, 2024
LMNA2Jun 3, 2021
LMX1B1May 28, 2020
LOC1060990622Mar 6, 2023
LOC1066279813Sep 8, 2022
LOC1067808031May 8, 2019
LOC1071335102Mar 6, 2023
LOC1073033403Jul 30, 2021
LOC1079850331Sep 13, 2021
LOC1086639841Jan 28, 2024
LOC1108062631Aug 4, 2020
LOC1108063062Nov 3, 2020
LOC1116744631May 28, 2020
LOC1116744671Sep 13, 2021
LOC1116744681Mar 6, 2023
LOC11167447228Jan 28, 2024
LOC1116744741Mar 6, 2023
LOC1116744759Sep 8, 2022
LOC1116744777Jan 28, 2024
LOC1136338741Sep 8, 2022
LOC1136338761Mar 6, 2023
LOC1136641064Jan 28, 2024
LOC1266533911Sep 8, 2022
LOC1268058512Jan 28, 2024
LOC1268062101Jan 28, 2024
LOC1268062521Apr 2, 2021
LOC1268073181Jan 6, 2022
LOC1268598371Nov 3, 2020
LOC1268599611Sep 8, 2022
LOC1268601601May 15, 2023
LOC1268612421Sep 8, 2022
LOC1268618983Mar 6, 2023
LOC1268628651Oct 13, 2020
LOC1268631371Jan 14, 2021
LOC1268632531May 15, 2023
LOC1299324051Jul 30, 2021
LOC1299949851Nov 14, 2019
LOC1299970521Sep 8, 2022
LOC1299974801Nov 3, 2020
LOC1299993751May 4, 2021
LOC1300600401Mar 6, 2020
LRBA2Jun 3, 2021
LRP21Feb 3, 2021
LRP41Jun 3, 2021
LRP54Jul 25, 2023
LYST3Sep 8, 2022
LZTR11Jul 25, 2023
MAP1B1Sep 8, 2022
MAP3K71Jan 14, 2021
MARS13Sep 13, 2021
MATN31Apr 2, 2021
MCTP22Mar 6, 2023
MECP22Jan 28, 2024
MED131Feb 3, 2021
MEFV3Mar 6, 2023
MEN11May 28, 2020
MFF-DT6Jan 28, 2024
MLH14Jan 28, 2024
MN11Mar 6, 2023
MSH24Mar 6, 2023
MSH31Aug 4, 2020
MSH64Sep 8, 2022
MT-ND53Mar 6, 2023
MT-TL11Jan 6, 2022
MTM11Sep 8, 2022
MTMR141Mar 5, 2019
MUTYH1Jan 28, 2024
MYH31May 28, 2020
MYH61Mar 6, 2023
MYH74Mar 6, 2023
MYH95Sep 8, 2022
MYO3A1May 28, 2020
MYO5B1May 28, 2020
NBEAL21Jul 30, 2021
NDUFB111Jul 31, 2019
NDUFV11Sep 8, 2022
NF19Jan 28, 2024
NFIA1Jan 28, 2024
NFIX1May 28, 2020
NFKB21May 28, 2020
NKX2-18Mar 6, 2023
NKX2-1-AS11May 8, 2019
NKX2-51Jan 28, 2024
NLGN4X1Sep 8, 2022
NLRP121Sep 8, 2022
NLRP31Sep 8, 2022
NOD21Sep 8, 2022
NOTCH13Jan 28, 2024
NOTCH23Sep 8, 2022
NPHP11Oct 13, 2020
NPHP34Jan 28, 2024
NPHP3-ACAD114Jan 28, 2024
NPHS11Sep 8, 2022
NPHS22Apr 2, 2021
NR3C22Jul 25, 2023
NRIP12Jan 14, 2021
NSD12May 28, 2020
NT5DC11Aug 30, 2019
OAS11Mar 6, 2023
OCA23Sep 8, 2022
OCRL2Mar 6, 2023
ODAD11Jul 31, 2019
ODAD31Oct 13, 2020
OFD14Mar 6, 2023
OTC1Mar 6, 2023
OTOGL1May 15, 2023
PAH1Sep 8, 2022
PAK11Jul 30, 2021
PALB22Jan 6, 2022
PARN5Mar 6, 2023
PAX23Sep 8, 2022
PCSK91Jul 25, 2023
PEX14Mar 6, 2023
PEX66May 15, 2023
PIBF12Feb 3, 2021
PIGN3Jan 28, 2024
PIK3CA1Apr 2, 2021
PKD111Mar 6, 2023
PKD1L12Jun 3, 2021
PKD1L1-AS11Apr 2, 2021
PKD22Mar 6, 2023
PKHD13Apr 2, 2021
PKLR1Dec 5, 2019
PKP21Jul 31, 2019
PLA2G62May 28, 2020
PLD11Sep 8, 2022
PLEC2Sep 8, 2022
PLOD22Oct 13, 2020
PMM23Jul 25, 2023
PMP21Apr 2, 2021
PODXL1May 4, 2021
POGZ1Sep 8, 2022
POLG1May 8, 2019
POLGARF1May 8, 2019
POLR1C1Oct 13, 2020
POT11Sep 8, 2022
PPP1R12A3Oct 13, 2020
PQBP11Mar 6, 2023
PRKAR1A1Jan 14, 2021
PRKCH1Aug 4, 2020
PRKCH-AS11Aug 4, 2020
PSEN11May 28, 2020
PTEN1May 8, 2019
PXDN1Aug 4, 2020
RAG11Sep 8, 2022
RASA14Jul 25, 2023
RB11Jul 30, 2021
RBM201May 28, 2020
RBM8A2Jan 28, 2024
REN1Mar 6, 2023
RET2May 15, 2023
RFWD33Jul 30, 2021
ROBO31Sep 8, 2022
RPL101Aug 4, 2020
RPL36A-HNRNPH22Jan 28, 2024
RPL51Dec 1, 2020
RPS192Sep 2, 2020
RPS261Aug 30, 2019
RSPH12Mar 6, 2023
RSPH4A1Sep 8, 2022
RSPH91Oct 13, 2020
RTEL122Jan 28, 2024
RTEL1-TNFRSF6B22Jan 28, 2024
RUNX15Jan 28, 2024
RUNX1-AS12Jan 28, 2024
RXYLT12Sep 8, 2022
RYR12Sep 8, 2022
RYR21Aug 4, 2020
SALL13Sep 8, 2022
SAMD93Jan 28, 2024
SAMD9L5Sep 8, 2022
SBDS1Jan 28, 2024
SCN2A1Dec 1, 2020
SCN5A2Jun 3, 2021
SCNN1A9Jul 25, 2023
SCNN1B11Jul 25, 2023
SCNN1G7Mar 6, 2023
SDHB1Jun 3, 2021
SETD1A2Jan 28, 2024
SETD21Mar 6, 2023
SFTA36Mar 6, 2023
SFTPA12May 15, 2023
SFTPA22Sep 8, 2022
SFTPB8Sep 8, 2022
SFTPC12Jul 25, 2023
SH2B32Mar 6, 2023
SHANK21Mar 6, 2023
SHANK31Feb 3, 2021
SKIC22May 8, 2019
SLC12A21Sep 8, 2022
SLC12A32Jan 6, 2022
SLC16A21Sep 8, 2022
SLC1A41Dec 1, 2020
SLC25A382Sep 8, 2022
SLC26A11Jan 28, 2024
SLC26A41Jul 25, 2023
SLC26A4-AS11Jul 25, 2023
SLC2A11Sep 2, 2020
SLC34A12Jul 25, 2023
SLC36A11May 28, 2020
SLC4A11Sep 8, 2022
SLC5A21Jan 14, 2021
SLFN143Sep 8, 2022
SMAD41Sep 8, 2022
SMAD91Sep 8, 2022
SOS12Jun 3, 2021
SPG111Sep 8, 2022
STAG12Jan 28, 2024
STAT11Jan 28, 2024
STAT34Mar 6, 2023
STAT5B1Jul 25, 2023
STING13Mar 6, 2023
STUB12May 15, 2023
STX111Dec 5, 2019
STXBP11Mar 6, 2023
SUOX1Mar 6, 2020
SYN11Mar 6, 2020
SYNE12Nov 3, 2020
TAFAZZIN2Jan 28, 2024
TAP21Jun 3, 2021
TBCK1Mar 6, 2023
TBX182Sep 8, 2022
TBX41May 15, 2023
TBXT1Sep 13, 2021
TCF201Mar 6, 2020
TCOF16Sep 8, 2022
TCTN21Jan 14, 2021
TDP11May 15, 2023
TERC2Nov 3, 2020
TERT21Jul 25, 2023
TGFBR21Jan 28, 2024
THPO2Sep 13, 2021
TINF21Aug 4, 2020
TM4SF201May 4, 2021
TNFRSF11B1Nov 14, 2019
TNNT21May 28, 2020
TNXB4Mar 6, 2023
TP532Sep 2, 2020
TREX11Jul 31, 2019
TRPV61Mar 6, 2020
TRRAP1May 28, 2020
TSC11Jul 25, 2023
TSC27Mar 6, 2023
TTC141Feb 3, 2021
TTC21B1Jan 14, 2021
TTN5Apr 2, 2021
TTN-AS12May 28, 2020
TTR1Sep 8, 2022
TUBA1A2Jan 6, 2022
TUBB1Mar 6, 2023
TUBB11Sep 13, 2021
TWIST12May 15, 2023
TYR4Mar 6, 2023
UBA11May 15, 2023
UMOD1Feb 3, 2021
USP9X2Jul 25, 2023
VCL1Jan 6, 2022
VHL5Jan 6, 2022
VWF5Jan 28, 2024
WDPCP2Oct 13, 2020
WDR731Mar 6, 2023
WNK12Sep 8, 2022
WNK41Aug 30, 2019
WNT10A1May 15, 2023
WNT41Aug 4, 2020
WNT5A1Aug 4, 2020
WRAP532Mar 5, 2019
WT11May 28, 2020
XIAP1Jul 30, 2021
ZCCHC82Jan 28, 2024
ZEB21Jan 6, 2022
ZMYND101May 15, 2023
ZNF2761Sep 8, 2022
ZNF6872Aug 4, 2020

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 22Jan 28, 2024
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Mar 6, 2023
Acrocephalosyndactyly type I1Apr 1, 2019
Acute intermittent porphyria1Nov 14, 2019
Acute myeloid leukemia6Jan 28, 2024
Adams-Oliver syndrome 11Jul 25, 2023
Adams-Oliver syndrome 61Jul 25, 2023
Adrenoleukodystrophy36Jul 25, 2023
Adult hypophosphatasia1Jun 3, 2021
Aicardi-Goutieres syndrome 11Jul 31, 2019
Aicardi-Goutieres syndrome 61Aug 4, 2020
Alagille syndrome due to a NOTCH2 point mutation2Sep 8, 2022
Aldosterone-producing adenoma with seizures and neurological abnormalities1May 4, 2021
Allan-Herndon-Dudley syndrome1Sep 8, 2022
Alstrom syndrome3Apr 2, 2021
Alternating hemiplegia of childhood 21Jun 3, 2021
Alveolar capillary dysplasia with pulmonary venous misalignment10Feb 3, 2021
Alzheimer disease 31May 28, 2020
Amyloidosis, primary localized cutaneous, 31Nov 3, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency3Jan 28, 2024
Anterior segment dysgenesis 71Aug 4, 2020
Aortic valve disease 13Jan 28, 2024
Aplasia cutis congenita1Sep 13, 2021
Arrhythmogenic right ventricular dysplasia 111Jan 28, 2024
Arrhythmogenic right ventricular dysplasia 21Aug 4, 2020
Arrhythmogenic right ventricular dysplasia 81Oct 13, 2020
Arrhythmogenic right ventricular dysplasia 91Jul 31, 2019
Arthrogryposis, distal, type 2B31May 28, 2020
Asphyxiating thoracic dystrophy 34Sep 8, 2022
Ataxia-pancytopenia syndrome5Sep 8, 2022
Ataxia-telangiectasia syndrome2May 4, 2021
Atrial septal defect 31Mar 6, 2023
Atypical hemolytic-uremic syndrome with B factor anomaly1Apr 2, 2021
Atypical hemolytic-uremic syndrome with C3 anomaly3Jul 25, 2023
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly4Mar 6, 2023
Au-Kline syndrome1Sep 8, 2022
Autism spectrum disorder due to AUTS2 deficiency2Feb 3, 2021
Autism, susceptibility to, 171Mar 6, 2023
Autism, susceptibility to, X-linked 21Sep 8, 2022
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1Jan 28, 2024
Autoimmune interstitial lung disease-arthritis syndrome3Jan 28, 2024
Autosomal dominant Alport syndrome5Jan 28, 2024
Autosomal dominant Robinow syndrome 11Aug 4, 2020
Autosomal dominant centronuclear myopathy1Mar 5, 2019
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Oct 13, 2020
Autosomal dominant hypocalcemia 11May 4, 2021
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Apr 2, 2021
Autosomal dominant pseudohypoaldosteronism type 12Jul 25, 2023
Autosomal recessive Alport syndrome1Mar 6, 2023
Autosomal recessive ataxia, Beauce type2Nov 3, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2B2Aug 4, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2J3May 28, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2Q2Sep 8, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2W1Jun 3, 2021
Autosomal recessive nonsyndromic hearing loss 1A3May 15, 2023
Autosomal recessive nonsyndromic hearing loss 301May 28, 2020
Autosomal recessive nonsyndromic hearing loss 41Jul 25, 2023
Autosomal recessive nonsyndromic hearing loss 84B1May 15, 2023
Autosomal recessive polycystic kidney disease1May 28, 2020
Autosomal recessive pseudohypoaldosteronism type 16May 15, 2023
Autosomal recessive spinocerebellar ataxia 162May 15, 2023
Bardet-Biedl syndrome 152Oct 13, 2020
Bardet-Biedl syndrome 51May 28, 2020
Bartter disease type 22Oct 13, 2020
Benign familial hematuria1Jan 28, 2024
Benign hereditary chorea1Apr 1, 2019
Bernard-Soulier syndrome, type A2, autosomal dominant1Sep 8, 2022
Biotinidase deficiency2Jul 30, 2021
Birt-Hogg-Dube syndrome1Nov 14, 2019
Blau syndrome1Sep 8, 2022
Bleeding disorder, platelet-type, 211Dec 1, 2020
Brain malformations with or without urinary tract defects1Jan 28, 2024
Brain-lung-thyroid syndrome8Mar 6, 2023
Branchiootic syndrome 12Mar 6, 2023
Breast-ovarian cancer, familial, susceptibility to, 14Jan 6, 2022
Breast-ovarian cancer, familial, susceptibility to, 25Sep 8, 2022
Bronchiectasis with or without elevated sweat chloride 14Jul 25, 2023
Bronchiectasis with or without elevated sweat chloride 24Jul 25, 2023
Bronchiectasis with or without elevated sweat chloride 35Mar 6, 2023
Bruck syndrome 22Oct 13, 2020
Brugada syndrome 11May 28, 2020
CEBALID syndrome1Mar 6, 2023
CHARGE syndrome2Mar 6, 2023
COACH syndrome 11May 28, 2020
Capillary malformation-arteriovenous malformation 14Jul 25, 2023
Capillary malformation-arteriovenous malformation 21Sep 8, 2022
Cardiac valvular defect, developmental1Sep 8, 2022
Cardiomyopathy, familial restrictive, 31May 28, 2020
Cardiospondylocarpofacial syndrome1Jan 14, 2021
Carney complex, type 11Jan 14, 2021
Carnitine palmitoyl transferase II deficiency, myopathic form1Sep 8, 2022
Cataract 1 multiple types1Jan 28, 2024
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21May 28, 2020
Cerebroretinal microangiopathy with calcifications and cysts 16Jul 30, 2021
Charcot-Marie-Tooth disease type 4J1Aug 4, 2020
Charcot-Marie-Tooth disease, demyelinating, type 1G1Apr 2, 2021
Childhood hypophosphatasia2Jan 14, 2021
Childhood onset GLUT1 deficiency syndrome 21Sep 2, 2020
Chédiak-Higashi syndrome3Sep 8, 2022
Ciliary dyskinesia, primary, 36, X-linked1Feb 3, 2021
Ciliary dyskinesia, primary, 376Jan 28, 2024
Ciliary dyskinesia, primary, 402May 15, 2023
Ciliary dyskinesia, primary, 431Mar 6, 2023
Colorectal cancer, hereditary nonpolyposis, type 23Jan 28, 2024
Combined immunodeficiency due to DOCK8 deficiency2Sep 8, 2022
Combined immunodeficiency due to LRBA deficiency2Jun 3, 2021
Combined oxidative phosphorylation defect type 232Aug 30, 2019
Complement component 6 deficiency1Sep 8, 2022
Complex cortical dysplasia with other brain malformations 61Mar 6, 2023
Cone-rod dystrophy 31May 4, 2021
Congenital anomalies of kidney and urinary tract 22Sep 8, 2022
Congenital anomalies of kidney and urinary tract 32Jan 14, 2021
Congenital heart defects, multiple types, 51Sep 2, 2020
Congenital heart defects, multiple types, 61Aug 4, 2020
Congenital microvillous atrophy1May 28, 2020
Congenital myasthenic syndrome 4A1Mar 6, 2020
Conotruncal heart malformations2Jan 28, 2024
Coxopodopatellar syndrome1May 15, 2023
Craniosynostosis 42Aug 4, 2020
Crouzon syndrome1Aug 4, 2020
Cystic fibrosis335Jan 28, 2024
DDX41-related hematologic malignancy predisposition syndrome3Sep 13, 2021
Delpire-McNeill syndrome1Sep 8, 2022
Dent disease type 11Mar 6, 2023
Dent disease type 21Jul 30, 2021
Dermatitis, atopic, 21Nov 3, 2020
Developmental and epileptic encephalopathy 941Nov 14, 2019
Developmental and epileptic encephalopathy, 41Mar 6, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities1Mar 6, 2020
Diabetes insipidus, nephrogenic, X-linked1Oct 13, 2020
Diabetes mellitus, noninsulin-dependent, 11Sep 8, 2022
Diamond-Blackfan anemia 12Sep 2, 2020
Diamond-Blackfan anemia 101Aug 30, 2019
Diamond-Blackfan anemia 61Dec 1, 2020
Dilated cardiomyopathy 1A1May 28, 2020
Dilated cardiomyopathy 1D1May 28, 2020
Dilated cardiomyopathy 1DD1May 28, 2020
Donnai-Barrow syndrome1Feb 3, 2021
Drash syndrome1May 28, 2020
Dyskeratosis congenita, X-linked2Apr 1, 2019
Dyskeratosis congenita, autosomal dominant 211Jul 25, 2023
Dyskeratosis congenita, autosomal dominant 31Aug 4, 2020
Dyskeratosis congenita, autosomal dominant 63Sep 8, 2022
Dyskeratosis congenita, autosomal recessive 32Mar 5, 2019
Dyskeratosis congenita, autosomal recessive 51Jul 25, 2023
Dystonia 121Sep 8, 2022
Ehlers-Danlos syndrome due to tenascin-X deficiency1May 8, 2019
Ehlers-Danlos syndrome, classic type, 12Sep 8, 2022
Ehlers-Danlos syndrome, periodontal type 11May 4, 2021
Ehlers-Danlos syndrome, periodontal type 21Jul 30, 2021
Ehlers-Danlos syndrome, type 43Jul 25, 2023
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1Mar 6, 2020
Epilepsy, early-onset, with or without developmental delay1May 28, 2020
Epilepsy, idiopathic generalized, susceptibility to, 101Oct 13, 2020
Epiphyseal dysplasia, multiple, 31Nov 3, 2020
Episodic ataxia type 21Oct 13, 2020
Erythrocytosis, familial, 31Apr 2, 2021
Erythrocytosis, familial, 41Jan 28, 2024
Exudative vitreoretinopathy 41May 15, 2023
Fabry disease1Jan 28, 2024
Familial Mediterranean fever2Mar 6, 2023
Familial Mediterranean fever, autosomal dominant1Mar 6, 2023
Familial adenomatous polyposis 11Nov 3, 2020
Familial adenomatous polyposis 21Jan 28, 2024
Familial adenomatous polyposis 41Aug 4, 2020
Familial amyloid neuropathy1Sep 8, 2022
Familial cancer of breast2Jan 6, 2022
Familial cold autoinflammatory syndrome 21Sep 8, 2022
Familial dysfibrinogenemia1Sep 8, 2022
Familial hemophagocytic lymphohistiocytosis 41Dec 5, 2019
Familial hypokalemia-hypomagnesemia2Jan 6, 2022
Familial juvenile hyperuricemic nephropathy type 11Feb 3, 2021
Familial juvenile hyperuricemic nephropathy type 21Mar 6, 2023
Familial medullary thyroid carcinoma1May 15, 2023
Familial pulmonary capillary hemangiomatosis1Mar 6, 2023
Familial renal glucosuria1Jan 14, 2021
Familial spontaneous pneumothorax2Jul 25, 2023
Familial visceral amyloidosis, Ostertag type2Mar 6, 2020
Fanconi anemia complementation group A4Sep 8, 2022
Fanconi anemia complementation group B1Jan 28, 2024
Fanconi anemia complementation group E1Sep 2, 2020
Fanconi anemia, complementation group W3Jul 30, 2021
Fanconi renotubular syndrome 21Nov 3, 2020
Fanconi renotubular syndrome 31Jan 6, 2022
Finnish congenital nephrotic syndrome1Sep 8, 2022
Focal segmental glomerulosclerosis 71Jan 6, 2022
Focal segmental glomerulosclerosis 81Aug 30, 2019
Focal segmental glomerulosclerosis 92Jan 28, 2024
Fraser syndrome 23Nov 3, 2020
Frasier syndrome1May 28, 2020
Freeman-Sheldon syndrome1May 28, 2020
Galloway-Mowat syndrome 11Mar 6, 2023
Gaucher disease type I3Sep 8, 2022
Gaucher disease type II1May 28, 2020
Gaucher disease type III1May 28, 2020
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1May 28, 2020
Gaze palsy, familial horizontal, with progressive scoliosis 11Sep 8, 2022
Genitourinary and/or brain malformation syndrome3Oct 13, 2020
Glomerulopathy with fibronectin deposits 24Sep 8, 2022
Glycogen storage disease, type II2May 28, 2020
Gray platelet syndrome1Jul 30, 2021
Greig cephalopolysyndactyly syndrome1Jul 30, 2021
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1Jul 25, 2023
Hearing loss, autosomal dominant 34, with or without inflammation1Sep 8, 2022
Hearing loss, autosomal dominant 751May 28, 2020
Hereditary factor VIII deficiency disease1Sep 8, 2022
Hereditary factor XI deficiency disease1Sep 8, 2022
Hereditary spastic paraplegia 111Sep 8, 2022
Hereditary spherocytosis type 41Sep 8, 2022
Hermansky-Pudlak syndrome 13Jan 6, 2022
Hermansky-Pudlak syndrome 24May 8, 2019
Hermansky-Pudlak syndrome 45Jan 28, 2024
Heterotaxy, visceral, 8, autosomal2Jun 3, 2021
Hirschsprung disease, susceptibility to, 11Mar 6, 2023
Histiocytic medullary reticulosis1Sep 8, 2022
Holoprosencephaly 111Sep 8, 2022
Holoprosencephaly 91May 28, 2020
Hurler syndrome2May 28, 2020
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Mar 6, 2023
Hyper-IgE recurrent infection syndrome 5, autosomal recessive1Apr 2, 2021
Hypercholesterolemia, autosomal dominant, 31Jul 25, 2023
Hypercholesterolemia, autosomal dominant, type B1May 4, 2021
Hypercholesterolemia, familial, 11Jun 3, 2021
Hyperparathyroidism, transient neonatal1Mar 6, 2020
Hyperphosphatasemia with bone disease1Nov 14, 2019
Hypertrophic cardiomyopathy 13Mar 6, 2023
Hypertrophic cardiomyopathy 151Jan 6, 2022
Hypertrophic cardiomyopathy 21May 28, 2020
Hypokalemic periodic paralysis, type 13Jan 28, 2024
Hypoparathyroidism, deafness, renal disease syndrome1Aug 4, 2020
Hypophosphatemic nephrolithiasis/osteoporosis 11Jul 25, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Mar 6, 2023
Ichthyosis vulgaris3Oct 13, 2020
Idiopathic pulmonary arterial hypertension1Sep 13, 2021
Immunodeficiency, common variable, 101May 28, 2020
Immunodeficiency, common variable, 71Mar 6, 2020
Inflammatory bowel disease 131Sep 8, 2022
Inflammatory bowel disease 291Aug 4, 2020
Intellectual developmental disorder 611Feb 3, 2021
Intellectual developmental disorder with autism and macrocephaly1Mar 6, 2023
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Aug 4, 2020
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Jul 30, 2021
Intellectual disability, X-linked 1021May 4, 2021
Intellectual disability, X-linked 992Jul 25, 2023
Intellectual disability, X-linked, syndromic, 351Aug 4, 2020
Intellectual disability, X-linked, syndromic, Bain type1Sep 8, 2022
Intellectual disability, autosomal dominant 31Dec 5, 2019
Intellectual disability, autosomal dominant 472Jan 28, 2024
Intellectual disability, autosomal dominant 561Jan 28, 2024
Intellectual disability, autosomal recessive 271Sep 8, 2022
Intellectual disability, autosomal recessive 652Dec 5, 2019
Intellectual disability, autosomal recessive 662Aug 4, 2020
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Sep 8, 2022
Interstitial lung disease 11May 15, 2023
Interstitial lung disease 22Sep 8, 2022
Interstitial lung disease due to ABCA3 deficiency55Jan 28, 2024
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1Jan 6, 2022
Ischemic stroke1Aug 4, 2020
Isolated hyperchlorhidrosis1Nov 14, 2019
Joubert syndrome 101Mar 6, 2023
Joubert syndrome 172Nov 3, 2020
Joubert syndrome 233Jul 25, 2023
Joubert syndrome 241Jan 14, 2021
Joubert syndrome 332Feb 3, 2021
Joubert syndrome 91May 28, 2020
Joubert syndrome with renal defect1Oct 13, 2020
Junctional epidermolysis bullosa with pyloric atresia3Oct 13, 2020
Juvenile myelomonocytic leukemia1Sep 13, 2021
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke2Mar 6, 2023
KNOPS BLOOD GROUP SYSTEM1Sep 8, 2022
Kabuki syndrome 13May 28, 2020
Kartagener syndrome5Jan 28, 2024
Kleefstra syndrome 22Jan 28, 2024
Leber optic atrophy1Mar 6, 2023
Left ventricular noncompaction 11May 28, 2020
Leigh syndrome1Mar 6, 2023
Li-Fraumeni syndrome 12Sep 2, 2020
Liddle syndrome 14May 28, 2020
Liddle syndrome 21Mar 6, 2023
Lissencephaly due to TUBA1A mutation2Jan 6, 2022
Loeys-Dietz syndrome 21Jan 28, 2024
Long QT syndrome 13Jan 28, 2024
Lowe syndrome1Mar 6, 2023
Luscan-Lumish syndrome1Mar 6, 2023
Lynch syndrome 12Sep 8, 2022
Lynch syndrome 53Sep 8, 2022
MHC class I deficiency1Jun 3, 2021
MIRAGE syndrome1Oct 13, 2020
Macrocephaly-autism syndrome1May 8, 2019
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss5Sep 8, 2022
Macrothrombocytopenia, isolated, 1, autosomal dominant1Sep 13, 2021
Malan overgrowth syndrome1May 28, 2020
Malignant hyperthermia, susceptibility to, 11May 28, 2020
Marfan syndrome7Mar 6, 2023
Marshall-Smith syndrome1May 28, 2020
Meckel syndrome, type 61May 28, 2020
Megalencephaly-capillary malformation-polymicrogyria syndrome1Apr 2, 2021
Metaphyseal chondrodysplasia, Schmid type1Aug 30, 2019
Microcephaly 16, primary, autosomal recessive1Mar 6, 2020
Microcephaly 5, primary, autosomal recessive3Jan 28, 2024
Mismatch repair cancer syndrome 11Mar 6, 2023
Mismatch repair cancer syndrome 22Mar 6, 2023
Mitochondrial complex 1 deficiency, nuclear type 301Jul 31, 2019
Mitochondrial complex 1 deficiency, nuclear type 41Sep 8, 2022
Monocytopenia with susceptibility to infections3Jul 25, 2023
Monosomy 7 myelodysplasia and leukemia syndrome 22Jan 28, 2024
Mowat-Wilson syndrome1Jan 6, 2022
Mucopolysaccharidosis1Jan 28, 2024
Mucopolysaccharidosis, MPS-IV-B1Sep 8, 2022
Muenke syndrome1Sep 8, 2022
Mullerian aplasia and hyperandrogenism1Aug 4, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 13Jan 28, 2024
Multiple endocrine neoplasia, type 11May 28, 2020
Multiple epiphyseal dysplasia type 51Apr 2, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102Sep 8, 2022
Myelodysplastic syndrome2Jan 28, 2024
Myhre syndrome1Sep 8, 2022
Myopathy, myofibrillar, 9, with early respiratory failure2Apr 2, 2021
NPHP3-related Meckel-like syndrome4Jan 28, 2024
Nail-patella syndrome1May 28, 2020
Nephronophthisis 121Jan 14, 2021
Nephronophthisis 152Sep 13, 2021
Nephropathic cystinosis1May 4, 2021
Nephrotic syndrome, type 22Apr 2, 2021
Nephrotic syndrome, type 41May 28, 2020
Neural tube defect1Sep 13, 2021
Neurodegeneration with brain iron accumulation 2B2May 28, 2020
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Jul 31, 2019
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Jan 28, 2024
Neurofibromatosis, type 19Jan 28, 2024
Neuromuscular disease1Sep 8, 2022
Neutropenia, severe congenital, 1, autosomal dominant2Oct 13, 2020
Noonan syndrome 101Jul 25, 2023
Noonan syndrome 42Jun 3, 2021
Oculocutaneous albinism type 1B2Mar 6, 2023
Odonto-onycho-dermal dysplasia1May 15, 2023
Okur-Chung neurodevelopmental syndrome1May 28, 2020
Ornithine carbamoyltransferase deficiency1Mar 6, 2023
Osteogenesis imperfecta1Sep 8, 2022
Osteogenesis imperfecta type I2Aug 4, 2020
Osteogenesis imperfecta type III1May 28, 2020
Osteogenesis imperfecta with normal sclerae, dominant form2Jul 30, 2021
Osteogenesis imperfecta, perinatal lethal1Nov 3, 2020
PMM2-congenital disorder of glycosylation3Jul 25, 2023
Paget disease of bone 62Aug 4, 2020
Pancytopenia due to IKZF1 mutations1Aug 4, 2020
Paragangliomas 41Jun 3, 2021
Peeling skin syndrome 61Mar 6, 2023
Pelger-Huët anomaly1Aug 30, 2019
Periventricular nodular heterotopia 91Sep 8, 2022
Peroxisome biogenesis disorder 1A (Zellweger)4Mar 6, 2023
Peroxisome biogenesis disorder 4A (Zellweger)6May 15, 2023
Pfeiffer syndrome1Aug 30, 2019
Phelan-McDermid syndrome1Feb 3, 2021
Phenylketonuria1Sep 8, 2022
Platelet-type bleeding disorder 151Sep 8, 2022
Platelet-type bleeding disorder 171Apr 2, 2021
Platelet-type bleeding disorder 203Sep 8, 2022
Polycystic kidney disease 22Mar 6, 2023
Polycystic kidney disease 3 with or without polycystic liver disease1Jul 30, 2021
Polycystic kidney disease 42Apr 2, 2021
Polycystic kidney disease, adult type11Mar 6, 2023
Polycystic liver disease 4 with or without kidney cysts3Jul 25, 2023
Polydactyly, postaxial, type a71Aug 4, 2020
Polyglandular autoimmune syndrome, type 11Sep 2, 2020
Porencephaly 21Aug 4, 2020
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome2Oct 13, 2020
Primary ciliary dyskinesia 111Sep 8, 2022
Primary ciliary dyskinesia 121Oct 13, 2020
Primary ciliary dyskinesia 134Mar 6, 2023
Primary ciliary dyskinesia 142Feb 3, 2021
Primary ciliary dyskinesia 155Sep 8, 2022
Primary ciliary dyskinesia 181Jan 28, 2024
Primary ciliary dyskinesia 21Jan 28, 2024
Primary ciliary dyskinesia 201Jul 31, 2019
Primary ciliary dyskinesia 211Mar 6, 2023
Primary ciliary dyskinesia 221May 15, 2023
Primary ciliary dyskinesia 242Mar 6, 2023
Primary ciliary dyskinesia 251Jun 3, 2021
Primary ciliary dyskinesia 261Jul 30, 2021
Primary ciliary dyskinesia 271Jan 6, 2022
Primary ciliary dyskinesia 321Jan 28, 2024
Primary ciliary dyskinesia 301Oct 13, 2020
Primary ciliary dyskinesia 342Sep 8, 2022
Primary ciliary dyskinesia 55Sep 8, 2022
Primary ciliary dyskinesia 713Jan 28, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11May 8, 2019
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1May 28, 2020
Pseudo von Willebrand disease1Sep 13, 2021
Pseudohypoaldosteronism type 2B1Aug 30, 2019
Pseudohypoaldosteronism type 2C2Sep 8, 2022
Pseudohypoaldosteronism, type IB2, autosomal recessive1May 15, 2023
Pseudohypoparathyroidism8Oct 13, 2020
Pseudohypoparathyroidism type 1B1Jan 31, 2019
Pseudohypoparathyroidism type I A1Jul 25, 2023
Pseudopseudohypoparathyroidism3Sep 8, 2022
Pulmonary alveolar proteinosis with hypogammaglobulinemia1Mar 6, 2023
Pulmonary arterial hypertension1Jul 25, 2023
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 110May 15, 2023
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 22Nov 3, 2020
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 321Jan 28, 2024
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 45Mar 6, 2023
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 52Jan 28, 2024
Pulmonary hypertension, primary, 12Jul 25, 2023
Pulmonary hypertension, primary, 21Sep 8, 2022
Pulmonary hypertension, primary, 41Mar 6, 2023
Pulmonary hypertension, primary, autosomal recessive2Mar 6, 2023
Pulmonary venoocclusive disease 12Sep 8, 2022
Pyruvate kinase deficiency of red cells1Dec 5, 2019
Radial aplasia-thrombocytopenia syndrome2Jan 28, 2024
Renal coloboma syndrome2Sep 8, 2022
Renal dysplasia, cystic, susceptibility to3Mar 6, 2023
Renpenning syndrome1Mar 6, 2023
Respiratory distress associated with prematurity1Jul 31, 2019
Retinitis pigmentosa 231Mar 6, 2023
Retinoblastoma1Jul 30, 2021
Rett syndrome2Jan 28, 2024
Ritscher-Schinzel syndrome 21Sep 8, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations2Sep 8, 2022
STAT3-related early-onset multisystem autoimmune disease2Mar 6, 2023
STING-associated vasculopathy with onset in infancy3Mar 6, 2023
Saethre-Chotzen syndrome1May 28, 2020
Seizures, benign familial infantile, 31Dec 1, 2020
Severe X-linked myotubular myopathy1Sep 8, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency2May 28, 2020
Severe early-childhood-onset retinal dystrophy2May 28, 2020
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency3Sep 13, 2021
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Nov 14, 2019
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Apr 2, 2021
Short-rib thoracic dysplasia 14 with polydactyly1May 28, 2020
Shwachman-Diamond syndrome 11Jan 28, 2024
Sickle cell-hemoglobin C disease2Mar 6, 2023
Sideroblastic anemia 22Sep 8, 2022
Sifrim-Hitz-Weiss syndrome1Jan 28, 2024
Simpson-Golabi-Behmel syndrome type 22Mar 6, 2023
Smith-Lemli-Opitz syndrome1May 28, 2020
Sotos syndrome2May 28, 2020
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1Dec 1, 2020
Specific language impairment 51May 4, 2021
Spermatogenic failure 465Sep 8, 2022
Spinocerebellar ataxia 451May 28, 2020
Spinocerebellar ataxia type 421Aug 4, 2020
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11May 15, 2023
Spondylocarpotarsal synostosis syndrome2Nov 3, 2020
Spondyloepiphyseal dysplasia congenita1Aug 4, 2020
Stickler syndrome type 12Jul 30, 2021
Stickler syndrome type 21Jan 14, 2021
Stickler syndrome, type 51Jun 3, 2021
Sulfite oxidase deficiency1Mar 6, 2020
Surfactant metabolism dysfunction, pulmonary, 18Sep 8, 2022
Surfactant metabolism dysfunction, pulmonary, 212Jul 25, 2023
Surfactant metabolism dysfunction, pulmonary, 43May 8, 2019
Surfactant metabolism dysfunction, pulmonary, 54Sep 8, 2022
Syndromic X-linked intellectual disability Claes-Jensen type1Nov 14, 2019
Systemic lupus erythematosus1Sep 8, 2022
TWIST1-related craniosynostosis2May 15, 2023
Telangiectasia, hereditary hemorrhagic, type 13Sep 8, 2022
Thanatophoric dysplasia type 12Jan 28, 2024
Thrombocythemia 12Mar 6, 2023
Thrombocythemia 31May 28, 2020
Thrombocytopenia1Sep 13, 2021
Thrombocytopenia 21Jul 30, 2021
Thrombocytopenia 51Jan 14, 2021
Tooth agenesis, selective, X-linked, 11Jan 28, 2024
Townes-Brocks syndrome 13Sep 8, 2022
Treacher Collins syndrome 16Sep 8, 2022
Trichohepatoenteric syndrome 22May 8, 2019
Tuberous sclerosis 11Jul 25, 2023
Tuberous sclerosis 27Mar 6, 2023
Tumor predisposition syndrome 31Sep 8, 2022
Tyrosinase-negative oculocutaneous albinism2Mar 6, 2023
Tyrosinase-positive oculocutaneous albinism3Sep 8, 2022
Usher syndrome type 1D2Jan 6, 2022
VEXAS syndrome1May 15, 2023
Vasculitis due to ADA2 deficiency4Sep 8, 2022
Vesicoureteral reflux 83Mar 6, 2023
Visceral myopathy 11Jan 14, 2021
Von Hippel-Lindau syndrome5Jan 6, 2022
Wilms tumor 11May 28, 2020
Wilson disease7Jul 25, 2023
X-linked Alport syndrome3Jan 28, 2024
X-linked lymphoproliferative disease due to XIAP deficiency1Jul 30, 2021
X-linked recessive nephrolithiasis with renal failure1Mar 6, 2023
X-linked sideroblastic anemia 11Jan 28, 2024
Xeroderma pigmentosum, group D2Jun 3, 2021
not provided29Mar 6, 2023
von Willebrand disease type 12Jan 28, 2024
von Willebrand disease type 22Sep 2, 2020