| Metadata | |
|---|---|
| ID | DOID:0111710 |
| Name | focal or diffuse nonepidermolytic palmoplantar keratoderma |
| Definition | A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. https://www.ncbi.nlm.nih.gov/pubmed/21801157, https://www.ncbi.nlm.nih.gov/pubmed/19609311 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering [EXACT] PPKNEFD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |