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DOID:0111416 - trichohepatoenteric syndrome 2
Disease Ontology Definition:A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33.
Synonyms: THES2,
Xenbase Genes : skic2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
trichohepatoenteric syndrome (is_a)