About: Xeroderma Pigmentosum     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Xeroderma Pigmentosum
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Xeroderma Pigmentosum
UMLS_CUI
  • C0043346
ALT_DEFINITION
  • A genetic condition marked by an extreme sensitivity to ultraviolet radiation, including sunlight. People with xeroderma pigmentosum are not able to repair skin damage from the sun and other sources of ultraviolet radiation, and have a very high risk of skin cancer.NCI-GLOSS
Legacy_Concept_Name
  • Xeroderma_Pigmentosum
FULL_SYN
  • Melanosis Lenticularis ProgressivaSYNCI
  • Atrophoderma PigmentosumSYNCI
  • Kaposi DiseaseSYNCI
  • Pigmented EpitheliomatosisSYNCI
  • Kaposi DermatosisSYNCI
  • xeroderma pigmentosumPTNCI-GLOSSCDR0000046091
  • Xeroderma of KaposiSYNCI
  • Angioma Pigmentosum AtrophicumSYNCI
  • Xeroderma Pigmentosum SyndromeSYNCI
  • Xeroderma PigmentosumPTNCI
DEFINITION
  • An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.NCI
code
  • C3452
http://linked.open...y/mesh/hasConcept
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