Term Name: | epidermolytic hyperkeratosis 1 |
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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 ) |