dystrophic epidermolysis bullosa
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:skin
genetic disorder |
| gptkbp:affects |
gptkb:skin
adults children mucous membranes |
| gptkbp:complication |
gptkb:cancer
skin infections |
| gptkbp:diagnosedBy |
genetic testing
skin biopsy |
| gptkbp:firstDescribed |
1874
Heinrich Köbner |
| gptkbp:hasOrphanetID |
ORPHA:793
|
| https://www.w3.org/2000/01/rdf-schema#label |
dystrophic epidermolysis bullosa
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D004771
|
| gptkbp:mutationAssociatedWith |
COL7A1 gene
|
| gptkbp:OMIM |
131750
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:epidermolysis_bullosa
dominant dystrophic epidermolysis bullosa recessive dystrophic epidermolysis bullosa |
| gptkbp:symptom |
scarring
skin blistering nail loss mucosal involvement skin fragility |
| gptkbp:treatment |
infection control
pain management wound care |
| gptkbp:bfsParent |
gptkb:COL7A1
|
| gptkbp:bfsLayer |
7
|