| Metadata | |
|---|---|
| ID | DOID:0070550 |
| Name | KRT1-related nonepidermolytic palmoplantar keratoderma |
| Definition | A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. https://pubmed.ncbi.nlm.nih.gov/12406346/, https://pubmed.ncbi.nlm.nih.gov/7528239/ |
| Xrefs | |
| SKOS |
exactMatch GARD:5186 exactMatch MIM:600962 exactMatch ORDO:530838 exactMatch UMLS_CUI:C5680142 |
| Subsets |
DO_rare_slim |
| Synonyms |
KRT1-related NEPPK [EXACT] |
| Parent Relationships |