| Metadata | |
|---|---|
| ID | DOID:0111416 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111416 Copy |
| Name | trichohepatoenteric syndrome 2 |
| Definition | A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. https://www.ncbi.nlm.nih.gov/pubmed/22444670 |
| Xrefs | |
| Synonyms |
THES2 [EXACT] |
| Parent Relationships |