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 )

Relationships
is a type of: trichohepatoenteric syndrome