| Metadata | |
|---|---|
| ID | DOID:0070552 |
| Name | epidermolytic palmoplantar keratoderma 1 |
| Definition | An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. https://pubmed.ncbi.nlm.nih.gov/12192490/, https://pubmed.ncbi.nlm.nih.gov/30666268 |
| Xrefs | |
| SKOS |
exactMatch MIM:144200 |
| Subsets |
DO_rare_slim |
| Synonyms |
EPPK1 [EXACT] |
| Parent Relationships |