| Metadata | |
|---|---|
| ID | DOID:0111414 |
| Name | trichohepatoenteric 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. https://www.ncbi.nlm.nih.gov/pubmed/28944135 |
| Xrefs |
SNOMEDCT_US_2023_03_01:703406006 |
| Subsets |
DO_rare_slim |
| Synonyms |
phenotypic diarrhea [EXACT] SD/THE [EXACT] syndromic diarrhea [EXACT] Syndromic diarrhea/Tricho-hepato-enteric syndrome [EXACT] THES [EXACT] Tricho-hepato-enteric syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |