Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
gptkb:skin
gptkb:nervous_system eyes |
| gptkbp:causedBy |
mutation in DNA repair genes
|
| gptkbp:complication |
gptkb:cancer
eye cancer neurological degeneration |
| gptkbp:firstDescribed |
1874
|
| https://www.w3.org/2000/01/rdf-schema#label |
xeroderma pigmentosum
|
| gptkbp:ICD-10_code |
Q82.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:involvedIn |
gptkb:XPC
gptkb:XPE gptkb:XPA gptkb:XPD gptkb:XPG XPF XPB XPV |
| gptkbp:namedAfter |
xeroderma (dry skin) and pigmentosum (pigmentation)
|
| gptkbp:OMIM |
278700
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:cancer
freckling extreme sensitivity to ultraviolet light premature skin aging |
| gptkbp:treatment |
personal protective equipment
avoidance of sunlight regular skin examinations topical sunscreens |
| gptkbp:bfsParent |
gptkb:XPD
gptkb:XPG3 gptkb:Christopher_Snow |
| gptkbp:bfsLayer |
7
|