Term Name: | epidermolytic palmoplantar keratoderma 1 |
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Synonyms: | EPPK1 |
Definition: | An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. |
Ontology: | Human Disease [DOID:0070552] ( DOID:0070552 ) |