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DO Term : trichohepatoenteric syndrome [DOID:0111414] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C1857276,
  • SD/THE,
  • Tricho-hepato-enteric syndrome,
  • OMIM:PS222470,
  • SNOMEDCT_US_2023_03_01:703406006,
  • ORDO:84064,
  • phenotypic diarrhea,
  • MESH:C565627,
  • GARD:5258,
  • PS222470,
  • THES,
  • syndromic diarrhea,
  • Syndromic diarrhea/Tricho-hepato-enteric syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents