OBO ID: DOID:0111710
Term Name: focal or diffuse nonepidermolytic palmoplantar keratoderma Search Ontology:
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:
OTHER focal or diffuse nonepidermolytic palmoplantar keratoderma PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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