epidermolytic hyperkeratosis 1

Term ID

DOID:0081358

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. https://pubmed.ncbi.nlm.nih.gov/11531804/

References

• OMIM:113800
• ORDO:312

Ontology

Human Disease   ( DOID:0081358 )