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trichohepatoenteric syndrome 2
Summary
- Synonym
-
- THES2
- Definition
- A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33.
- Super Class
- trichohepatoenteric syndrome
External Links
- Disease Ontology
- DOID:0111416
- Mondo Disease Ontology
- OMIM
