| Metadata | |
|---|---|
| ID | DOID:0070551 |
| Name | epidermolytic palmoplantar keratoderma 2 |
| Definition | An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. https://pubmed.ncbi.nlm.nih.gov/11286630/, https://pubmed.ncbi.nlm.nih.gov/37122192/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620411 |
| Subsets |
DO_rare_slim |
| Synonyms |
EPPK2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |