trichohepatoenteric syndrome

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 t

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.

Also known as: SD/THE; Syndromic diarrhea/Tricho-hepato-enteric syndrome; THES; Tricho-hepato-enteric syndrome; phenotypic diarrhea