Bothnian type palmoplantar keratoderma Disease Ontology Browser

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Bothnian type palmoplantar keratoderma (DOID:0111707)
Alliance: disease page
Synonyms: diffuse palmoplantar keratoderma, Bothnian type; PPKB
Alt IDs: OMIM:600231, MESH:C536173, ORDO:2337, UMLS_CUI:C1838359
Definition: A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.

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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