| Term Name: | trichohepatoenteric syndrome 2 |
|---|---|
| Synonyms: | THES2 |
| Definition: | A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. |
| Ontology: | Human Disease [DOID:0111416] ( DOID:0111416 ) |