trichohepatoenteric syndrome (DOID:0111414)
Alliance: disease page
Synonyms: phenotypic diarrhea; SD/THE; syndromic diarrhea; Syndromic diarrhea/Tricho-hepato-enteric syndrome; THES; Tricho-hepato-enteric syndrome
Alt IDs: MESH:C565627, OMIM:PS222470, ORDO:84064, UMLS_CUI:C1857276
Definition: 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.