All diseases

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00884 LDS Loeys-Dietz syndrome (LDS) - - 54 53 SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 - -
03437 LDS3 Loeys-Dietz syndrome, type 3 (LDS-3) 613795 AD 6 4 SMAD3 - hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); craniosynostosis (HP:0001363); cervical spine instability (HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); dural ectasia (HP:0100775); pneumothorax (HP:0002107); hernia (HP:0100790); dissection at young age; arterial tortuosity (HP:0005116)
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.