epidermolytic hyperkeratosis
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
skin disorder |
| gptkbp:affects |
gptkb:skin
|
| gptkbp:causedBy |
mutation in KRT1 gene
mutation in KRT10 gene |
| gptkbp:complication |
secondary infection
|
| gptkbp:firstDescribed |
1902
|
| https://www.w3.org/2000/01/rdf-schema#label |
epidermolytic hyperkeratosis
|
| gptkbp:ICD-10_code |
Q80.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
113800
|
| gptkbp:onset |
at birth
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hyperkeratosis
erythema blistering |
| gptkbp:synonym |
bullous congenital ichthyosiform erythroderma
epidermolytic ichthyosis |
| gptkbp:treatment |
retinoids
emollients keratolytics |
| gptkbp:bfsParent |
gptkb:Waylon_Jones
gptkb:KRT1 |
| gptkbp:bfsLayer |
7
|