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KRT1-related nonepidermolytic palmoplantar keratoderma
Summary
- Synonym
-
- KRT1-related NEPPK
- Definition
- A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.
- Super Class
- nonepidermolytic palmoplantar keratoderma
External Links
- Disease Ontology
- DOID:0070550
- Mondo Disease Ontology
- UMLS
- ORDO
- GARD
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04264 | Keratin, type II cytoskeletal 1 |
