Term Name: trichohepatoenteric syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome
has subtype: trichohepatoenteric syndrome 1 trichohepatoenteric syndrome 2