| Term Name: | epidermolytic palmoplantar keratoderma 2 |
|---|---|
| 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 ) |