All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05339 CHTD disease, heart, congenital (CHTD) - - 35 33 NR2F2, SMAD2, TAB2 - -
06889 CHTD8 heart defects, congenital, multiple types, 8, with/without heterotaxy 619657 AD - - SMAD2 - -
00884 LDS Loeys-Dietz syndrome (LDS) - - 54 53 SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 - -
06888 LDS6 Loeys-Dietz syndrome, type 6 619656 AD - - SMAD2 - hypertelorism (HP:0000316); no bifid uvula (-HP:0000193)/no cleft palate (-HP:0000175); ; no retrognathia (-HP:0000278); scoliosis (HP:0002650); no club foot (-HP:0001762); osteoarthritis (HP:0002758); dural ectasia (HP:0100775); pneumothorax (HP:0002107); hernia (HP:0100790); no dissection at young age; arterial tortuosity (HP:0005116)
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