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Summary Literature (0)
DOID:0111710 - focal or diffuse nonepidermolytic palmoplantar keratoderma

Disease Ontology Definition:A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13.

Synonyms: autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering, PPKNEFD

Xenbase Genes :


MIM:
MIM:615735 - PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD

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

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