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DOID:0111414 - trichohepatoenteric syndrome
Disease Ontology 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.
Synonyms: phenotypic diarrhea, SD/THE, syndromic diarrhea, Syndromic diarrhea/Tricho-hepato-enteric syndrome, THES, Tricho-hepato-enteric syndrome
Xenbase Genes
:
skic2,
skic3
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)