|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb: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
|
|
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
|
gptkb:personal_protective_equipment
avoidance of UV light
frequent skin examinations
removal of skin lesions
topical DNA repair enzymes
|
|
gptkbp:bfsParent
|
gptkb:XPG
gptkb:Inherited_Cancer_Syndromes
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Xeroderma pigmentosum
|