Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0081358 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models