About: Xeroderma pigmentosum

An Entity of Type: Thing, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair

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dbo:complications
  • Skin cancer,brain cancer,cataracts
dbo:description
  • Krankheit (de)
  • maladie (fr)
  • מצב רפואי (iw)
  • patologia ereditaria caratterizzata da alterazioni nella riparazione del DNA in seguito a danni indotti dai raggi ultravioletti (it)
  • ଅଟୋସୋମାଲ ରିସିସିଭ ରୋଗ ଯେଉଁଥିରେ ଚର୍ମରେ ଅଟ୍ରାଭାୟୋଲେଟ ରଶ୍ମୀ ଜନିତ କ୍ଷତି ଭରଣା ଅସମ୍ଭବ ହୁଏ । (or)
  • autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair (en)
  • Наследственная болезнь связанная с нарушениями систем репарации ДНК. (ru)
  • sairaus jossa auringon ja loistevalaisinten ultraviolettisäteily aiheuttaa DNA-vaurioita (fi)
  • Захворювання шкіри (uk)
  • 一種遺傳疾病 (zh)
  • αυτοσωμική ασθένεια που χαρακτηρίζεται από μια αδυναμία στην ικανότητα να αποκατασταθεί μια βλάβη που έχει ως βάση της το ανθρώπινο DNA (el)
dbo:differentialDiagnosis
dbo:diseasesDB
  • 14198
dbo:eMedicineSubject
  • derm (en)
dbo:eMedicineTopic
  • 462 (en)
dbo:geneReviewsId
  • NBK1397
dbo:geneReviewsName
  • Xeroderma Pigmentosum (en)
dbo:icd10
  • Q82.1
dbo:icd9
  • 757.33
dbo:medicalCause
dbo:medicalDiagnosis
dbo:medlinePlus
  • 001467
dbo:meshId
  • D014983
dbo:omim
  • 278700 (xsd:integer)
dbo:orpha
  • 910
dbo:symptom
dbo:thumbnail
dbo:treatment
dbo:wikiPageExternalLink
dbo:wikiPageWikiLink
dbp:caption
  • An eight-year-old girl from Guatemala with xeroderma pigmentosum (en)
dbp:causes
  • Genetic disorder (en)
dbp:complications
dbp:diagnosis
  • Based on symptoms and confirmed by genetic testing (en)
dbp:differential
dbp:diseasesdb
  • 14198 (xsd:integer)
dbp:duration
  • Lifelong (en)
dbp:emedicinesubj
  • derm (en)
dbp:emedicinetopic
  • 462 (xsd:integer)
dbp:field
dbp:frequency
  • • 1 in 100,000 • 1 in 370 • 1 in 22,000 • 1 in 250,000 • 1 in 430,000 • 1 in 1,000,000 (en)
dbp:genereviewsname
  • Xeroderma Pigmentosum (en)
dbp:genereviewsnbk
  • NBK1397 (en)
dbp:icd
  • 757.330000 (xsd:double)
  • (en)
  • Q82.1 (en)
dbp:medlineplus
  • 1467 (xsd:integer)
dbp:meshid
  • D014983 (en)
dbp:name
  • Xeroderma pigmentosum (en)
dbp:omim
  • 278700 (xsd:integer)
dbp:onset
  • 1.57788E7 (dbd:second)
dbp:orphanet
  • 910 (xsd:integer)
dbp:prevention
  • No cure available (en)
dbp:prognosis
  • Life expectancy is shortened by about 30 years. (en)
dbp:symptoms
  • Severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin, changes in skin pigmentation (en)
dbp:synonyms
  • DeSanctis-Cacchione syndrome XP1 / XP2 / XP3 / XP4 / XP5 / XP6 / XP7 Xeroderma pigmentosum I/II/III/IV/V/VI/VII Xeroderma pigmentosum complementation group A/B/C/D/E/F/G xeroderma pigmentosum group A/B/C/D/E/F/G (en)
dbp:treatment
  • Completely avoiding sun or UV rays, retinoid creams, vitamin D (en)
dbp:wikiPageUsesTemplate
dbp:wordnet_type
dct:subject
gold:hypernym
rdf:type
rdfs:label
  • Xeroderma pigmentosum (en)
  • جفاف الجلد المصطبغ (ar)
  • Xerodèrmia pigmentada (ca)
  • Μελαχρωματική ξηροδερμία (el)
  • Xeroderma pigmentosum (de)
  • Xerodermia pigmentosa (es)
  • Xeroderma pigmentosum (fr)
  • Xeroderma pigmentosum (in)
  • Xeroderma pigmentoso (it)
  • 色素性乾皮症 (ja)
  • 색소성 건피증 (ko)
  • Skóra pergaminowa (pl)
  • Xeroderma pigmentosum (nl)
  • Xerodermia pigmentosa (pt)
  • Xeroderma pigmentosum (sv)
  • Ксеродерма (ru)
  • Ксеродерма (uk)
  • 著色性乾皮症 (zh)
owl:sameAs
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • Xeroderma pigmentosum (en)
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is dbo:wikiPageRedirects of
is dbo:wikiPageWikiLink of
is foaf:primaryTopic of
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