Term Name: | epidermolytic palmoplantar keratoderma 2 |
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Synonyms: | EPPK2 |
Definition: | An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. |
Ontology: | Human Disease [DOID:0070551] ( DOID:0070551 ) |