Term Name: | trichohepatoenteric syndrome 2 |
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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 ) |