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Metadata
ID	DOID:0081358
Name	epidermolytic hyperkeratosis 1
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. https://pubmed.ncbi.nlm.nih.gov/11531804/
Xrefs	MIM:113800 ORDO:312
Subsets	DO_rare_slim
Parent Relationships	is_a epidermolytic hyperkeratosis is_a autosomal dominant disease