junctional epidermolysis bullosa
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:skin
genetic disorder |
| gptkbp:abbreviation |
gptkb:JEB
|
| gptkbp:affects |
gptkb:skin
mucous membranes |
| gptkbp:causedBy |
mutations in genes encoding integrin alpha6beta4
mutations in genes encoding laminin-332 mutations in genes encoding type XVII collagen |
| gptkbp:complication |
infection
failure to thrive scarring early death (in severe forms) |
| gptkbp:diagnosedBy |
genetic testing
skin biopsy |
| gptkbp:firstDescribed |
late 19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
junctional epidermolysis bullosa
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:onset |
at birth
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
Herlitz type
non-Herlitz type |
| gptkbp:symptom |
fragile skin
blistering of the skin wounds that heal poorly |
| gptkbp:treatment |
wound care
nutritional support infection prevention |
| gptkbp:bfsParent |
gptkb:LAMA3
|
| gptkbp:bfsLayer |
7
|