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Disease Ontology Browser
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory