About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory