epidermolytic palmoplantar keratoderma 2 Disease Ontology Browser

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epidermolytic palmoplantar keratoderma 2 (DOID:0070551)
Alliance: disease page
Synonyms: EPPK2
Alt IDs: OMIM:620411
Definition: An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 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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