epidermolysis bullosa simplex
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:skin
genetic disorder |
| gptkbp:affects |
epidermis
|
| gptkbp:causedBy |
mutation in KRT14 gene
mutation in KRT5 gene |
| gptkbp:complication |
scarring
skin infection nail loss |
| gptkbp:diagnosedBy |
genetic testing
skin biopsy |
| gptkbp:firstDescribed |
late 19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
epidermolysis bullosa simplex
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D004803
|
| gptkbp:OMIM |
131800
|
| gptkbp:onset |
at birth or early infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:epidermolysis_bullosa
|
| gptkbp:subspecies |
Dowling-Meara type
Koebner type Weber-Cockayne type |
| gptkbp:symptom |
fragile skin
skin blistering |
| gptkbp:treatment |
pain management
wound care infection prevention |
| gptkbp:bfsParent |
gptkb:K14
gptkb:Cytokeratin |
| gptkbp:bfsLayer |
7
|