Term Name: focal nonepidermolytic palmoplantar keratoderma 2
Synonyms: FNEPPK2
Definition: A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
Ontology: Human Disease [DOID:0111711]   ( DOID:0111711 )

Relationships
is a type of: autosomal dominant disease focal nonepidermolytic palmoplantar keratoderma