Visualize Submit Comment
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

GARD:5258

MESH:C565627

OMIM:PS222470

ORDO:84064

SNOMEDCT_US_2020_03_01:703406006

UMLS_CUI:C1857276

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

is_a autosomal recessive disease

Add an item to the term tracker