Term Name: epidermolytic palmoplantar keratoderma 2
Synonyms: EPPK2
Definition: An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.
Ontology: Human Disease [DOID:0070551]   ( DOID:0070551 )

Relationships
is a type of: autosomal dominant disease epidermolytic palmoplantar keratoderma