Term Name: | trichohepatoenteric syndrome |
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Synonyms: | phenotypic diarrhea, SD/THE, syndromic diarrhea, Syndromic diarrhea/Tricho-hepato-enteric syndrome, THES, Tricho-hepato-enteric syndrome |
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. |
Ontology: | Human Disease [DOID:0111414] ( DOID:0111414 ) |