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
Ontology
Human Disease   ( DOID:0111710 )
Relationships
is a type of
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Genes Involved
Zebrafish Models