Search Ontology:
Human Disease

trichohepatoenteric syndrome

Term ID
DOID:0111414
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 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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