OBO ID: DOID:4644
Term Name: epidermolysis bullosa simplex Search Ontology:
Synonyms:
Definition: An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes
References:
Ontology: Human Disease   ( DOID:4644 )
OTHER epidermolysis bullosa simplex PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DST Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency 615425
KRT14 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None