All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01182 ARVD1 dysplasia, arrhythmogenic right ventricular, type 1 (ARVD-1) 107970 AD - - TGFB3 - -
00884 LDS Loeys-Dietz syndrome (LDS) - - 54 53 SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 - -
04015 LDS5;RNHF Loeys-Dietz syndrome, type 5 (LDS-5, Rienhoff syndrome (RNHF)) 615582 AD 2 2 TGFB3 - hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); no craniosynostosis (-HP:0001363); cervical spine instability (HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); no pneumothorax (-HP:0002107); hernia (HP:0100790); no arterial tortuosity (-HP:0005116)
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