focal or diffuse nonepidermolytic palmoplantar keratoderma Disease Ontology Browser

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Disease Ontology Browser

focal or diffuse nonepidermolytic palmoplantar keratoderma (DOID:0111710)
Alliance: disease page
Synonyms: autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering; PPKNEFD
Alt IDs: OMIM:615735, ORDO:402003
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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