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Xeroderma pigmentosum

Introduction: Xeroderma pigmentosum

Description of Xeroderma pigmentosum

Xeroderma pigmentosum (medical condition): A rare pigmentary disease that is caused by an...more »

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Xeroderma pigmentosum:
  »Introduction: Xeroderma pigmentosum
  »Symptoms of Xeroderma pigmentosum

Xeroderma pigmentosum: a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processesm are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light.
Source: WordNet 2.1

Xeroderma pigmentosum: 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. --2004
Source: Diseases Database

Xeroderma pigmentosum: rare pigmentary atrophic autosomal recessive disease manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that permits excisional repair of utraviolet damaged DNA.
Source: CRISP

Xeroderma pigmentosum: A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.
Source: MeSH 2007

Xeroderma pigmentosum: Related Topics

These medical condition or symptom topics may be relevant to medical information for Xeroderma pigmentosum:

Xeroderma pigmentosum: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Xeroderma pigmentosum is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Xeroderma pigmentosum, or a subtype of Xeroderma pigmentosum, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Xeroderma pigmentosum as a "rare disease".

Source - Orphanet

Xeroderma pigmentosum as a Disease

Xeroderma pigmentosum (medical condition): See Xeroderma pigmentosum (disease information).
  »Introduction: Xeroderma pigmentosum
  »Symptoms of Xeroderma pigmentosum

Xeroderma pigmentosum: Related Diseases

Xeroderma pigmentosum: Xeroderma pigmentosum is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Xeroderma pigmentosum:

Xeroderma pigmentosum: Related Disease Topics

These medical disease topics may be related to Xeroderma pigmentosum:

Terms associated with Xeroderma pigmentosum:

Terms Similar to Xeroderma pigmentosum:

Source - NIH

Source - MeSH 2007

Broader terms for Xeroderma pigmentosum

Source - MeSH 2007

Source - CRISP

Source - WordNet 2.1

The term Xeroderma pigmentosum can be used for:

Source: CRISP

Other terms that may be related to Xeroderma pigmentosum:

Source: CRISP

Hierarchical classifications of Xeroderma pigmentosum

The following list attempts to classify Xeroderma pigmentosum into categories where each line is subset of the next.

WordNet 2.1

  • xeroderma,xerodermia
  • ichthyosis
  • congenital disease,genetic abnormality,genetic defect,genetic disease,genetic disorder,hereditary condition,hereditary disease,inherited disease,inherited disorder
  • disease
  • illness,malady,sickness,unwellness
  • health problem,ill health,unhealthiness
  • pathological state
  • condition,status
  • state

Source: WordNet 2.1

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

External links related to: Xeroderma pigmentosum

Source: Diseases Database

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