Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:skin
gptkb:nervous_system eyes |
| gptkbp:category |
genetics
oncology dermatology |
| gptkbp:causedBy |
mutations in DNA repair genes
|
| gptkbp:defectIn |
nucleotide excision repair
|
| gptkbp:firstDescribed |
1874
|
| gptkbp:higherPrevalence |
gptkb:Japan
gptkb:North_Africa |
| 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:namedFor |
Moriz Kaposi
|
| gptkbp:OMIM |
278700
|
| gptkbp:otherName |
XP
|
| gptkbp:prevalence |
1 in 1,000,000 in the United States
|
| gptkbp:riskFactor |
gptkb:cancer
eye cancer neurological degeneration |
| gptkbp:subspecies |
XP-A
XP-B XP-C XP-D XP-E XP-F XP-G XP-V |
| gptkbp:symptom |
eye damage
freckling extreme sensitivity to ultraviolet light early onset skin cancers |
| gptkbp:treatment |
personal protective equipment
avoidance of UV light frequent skin examinations removal of skin lesions topical DNA repair enzymes |
| gptkbp:bfsParent |
gptkb:XPG
|
| gptkbp:bfsLayer |
6
|