Term Name: epidermolytic hyperkeratosis 1
Synonyms:
Definition: An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
Ontology: Human Disease [DOID:0081358]   ( DOID:0081358 )

Relationships
is a type of: autosomal dominant disease epidermolytic hyperkeratosis