Disease-gene associations mined from literature

Human genes for trichohepatoenteric syndrome

Trichohepatoenteric syndrome [DOID:0111414]

A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex.

Synonyms:  trichohepatoenteric syndrome,  DOID:0111414,  trichohepatoenteric disease,  trichohepatoenteric disorder,  trichohepatoenteric syndromes ...