|
gptkbp:instanceOf
|
gptkb:disease
genetic disorder
|
|
gptkbp:affectedPopulation
|
adults
children
infants
|
|
gptkbp:affects
|
gptkb:skin
mucous membranes
|
|
gptkbp:causedBy
|
genetic disorder
|
|
gptkbp:complication
|
gptkb:cancer
gptkb:anemia
malnutrition
infection
|
|
gptkbp:diagnosedBy
|
genetic testing
skin biopsy
|
|
gptkbp:firstDescribed
|
1870
|
|
gptkbp:hasResearchOrganization
|
gptkb:EB_Research_Partnership
DEBRA International
|
|
gptkbp:hasType
|
gptkb:dystrophic_epidermolysis_bullosa
gptkb:junctional_epidermolysis_bullosa
gptkb:epidermolysis_bullosa_simplex
Kindler syndrome
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
epidermolysis bullosa
|
|
gptkbp:ICD-10_code
|
gptkb:Q81
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:MeSH_ID
|
gptkb:D004481
|
|
gptkbp:namedAfter
|
epidermis
|
|
gptkbp:OMIM
|
131800
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:symptom
|
wounds
scarring
fragile skin
skin blistering
|
|
gptkbp:synonym
|
gptkb:EB
|
|
gptkbp:treatment
|
infection control
pain management
wound care
nutritional support
|
|
gptkbp:bfsParent
|
gptkb:EB_Research_Partnership
gptkb:laminin
|
|
gptkbp:bfsLayer
|
7
|