All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00557 - Cousin syndrome 260660 AR - - TBX15 - -
05342 CAKUT kidney and urinary tract, anomalies, congenital (CAKUT) - - 212 212 CHRNA3, DSTYK, FOXD2, SLIT3, TBX18 - -
05341 CAKUT2 kidney and urinary tract, anomalies, congenital, type 2 (CAKUT-2) 143400 AD - - TBX18 - -
01046 CTHM heart malformations, conotruncal (CTHM) 217095 - 26 26 GATA6, GDF1, NKX2-5, NKX2-6, TBX1 - -
01047 DGS DiGeorge syndrome (DGS) 188400 AD 4 4 TBX1 - -
01371 HD Huntington disease (HD) 143100 AD 65 65 HTT, TBX18 - -
01623 IAD ACTH deficiency, isolated (IAD) 201400 AR 4 2 TBX19 - -
00389 TOF tetralogy of Fallot (TOF) 187500 AD 102 94 GATA4, GATA6, GDF1, JAG1, NKX2-5, TBX1, ZFPM2 - -
01048 VCFS velocardiofacial syndrome 192430 AD 2 2 DGCR14, DGCR2, DGCR6, DGCR8, TBX1 - -
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