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Summary Literature (1)
DOID:3263 - piebaldism

Disease Ontology Definition:An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.

Synonyms: PIEBALD TRAIT, Partial albinism, Partial albinism (disorder),

Xenbase Genes : snai2, kit

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008244 - piebaldism

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), integumentary system disease (is_a)