Metadata | |
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ID | DOID:0111416 |
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 |