epidermolytic hyperkeratosis 1 Disease Ontology Browser

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Disease Ontology Browser

epidermolytic hyperkeratosis 1 (DOID:0081358)
Alliance: disease page
Alt IDs: OMIM:113800, ORDO:312
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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