OBO ID: DOID:0111414
Term Name: trichohepatoenteric syndrome Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/28944135
References:
Ontology: Human Disease   ( DOID:0111414 )
OTHER trichohepatoenteric syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None