Visualize Submit Comment

Metadata
ID	DOID:0111711
Name	focal nonepidermolytic palmoplantar keratoderma 2
Definition	A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/25285920
Xrefs	MIM:616400
Synonyms	FNEPPK2 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a focal nonepidermolytic palmoplantar keratoderma
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance