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DOID:0081358 - epidermolytic hyperkeratosis 1
Disease Ontology 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.
Synonyms:
Echinobase Genes :
MIM:113800 - epidermolytic hyperkeratosis; ehk |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee