FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term trichohepatoenteric syndrome ID (Ontology) DOID:0111414 (Human Disease)
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.
Also Known As "phenotypic diarrhea" ; "SD/THE" ; "syndromic diarrhea" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 trichohepatoenteric syndrome  2 rec.
                                  |__trichohepatoenteric syndrome 1 1 rec.
                                  |__trichohepatoenteric syndrome 2 1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "phenotypic diarrhea" EXACT
    "SD/THE" EXACT OMO:0003012
    "syndromic diarrhea" EXACT
    "Syndromic diarrhea/Tricho-hepato-enteric syndrome" EXACT
    "THES" EXACT OMO:0003012
    "Tricho-hepato-enteric syndrome" EXACT
Secondary IDs
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GARD:5258
MESH:C565627
MIM:PS222470
ORDO:84064
SNOMEDCT_US_2023_03_01:703406006
UMLS_CUI:C1857276