Human genes for trichohepatoenteric syndrome 2
Trichohepatoenteric syndrome 2 [DOID:0111416]
A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in SKIV2L on chromosome 6p21.33.
Synonyms: trichohepatoenteric syndrome 2, DOID:0111416, THES2