OBO ID: DOID:0060735 |
Term Name: | epidermolysis bullosa simplex Dowling-Meara type | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (4) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0060735 ) |
OTHER epidermolysis bullosa simplex Dowling-Meara type PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
KRT14 | Epidermolysis bullosa simplex 1A, generalized severe |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.