OBO ID: DOID:0111414 |
Term Name: | trichohepatoenteric syndrome | Search Ontology: | |
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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 | ||
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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
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