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 ...