Search Ontology:
Human Disease
focal or diffuse nonepidermolytic palmoplantar keratoderma
- Term ID
- DOID:0111710
- Synonyms
-
- autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
- PPKNEFD
- 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. (2)
- References
-
- MIM:615735
- ORDO:402003
- Ontology
- Human Disease ( DOID:0111710 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models