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

• OMIM:615735
• ORDO:402003

Ontology

Human Disease   ( DOID:0111710 )