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Summary Literature (0)
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 either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively.

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

Xenbase Genes : snai2, kit

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

OMIM:
OMIM:172800 - PIEBALD TRAIT; PBT

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)