Xeroderma pigmentosum group A
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease |
| gptkbp:abbreviation |
gptkb:XPA
|
| gptkbp:affects |
nucleotide excision repair
|
| gptkbp:associatedWith |
gptkb:XPA_gene
|
| gptkbp:category |
hereditary cancer syndrome
DNA repair disorder |
| gptkbp:discoveredBy |
James E. Cleaver
|
| gptkbp:firstDescribed |
1968
|
| https://www.w3.org/2000/01/rdf-schema#label |
Xeroderma pigmentosum group A
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:XPA_gene
|
| gptkbp:OMIM |
278700
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:cancer
photosensitivity neurological abnormalities |
| gptkbp:treatment |
sun protection
removal of skin lesions regular skin examination |
| gptkbp:bfsParent |
gptkb:XPA
|
| gptkbp:bfsLayer |
8
|