xeroderma pigmentosum
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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xeroderma pigmentosum
Summary
xeroderma pigmentosum is a designated intractable/rare disease[1]. It has Wikipedia articles in 22 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- xeroderma pigmentosum's instance of is recorded as designated intractable/rare disease[3].
- xeroderma pigmentosum's instance of is recorded as rare disease[4].
- xeroderma pigmentosum's instance of is recorded as class of disease[5].
- xeroderma pigmentosum is a type of autosomal recessive disease[6].
- xeroderma pigmentosum is a type of autosomal recessive cerebellar ataxia due to a DNA repair defect[7].
- xeroderma pigmentosum is a type of syndrome[8].
- xeroderma pigmentosum is a type of disease[9].
- xeroderma pigmentosum's Commons category is recorded as Xeroderma pigmentosum[10].
- xeroderma pigmentosum's described by source is recorded as Great Soviet Encyclopedia (1926–1947)[11].
- xeroderma pigmentosum's NCI Thesaurus ID is recorded as C3452[12].
- xeroderma pigmentosum's health specialty is recorded as medical genetics[13].
- xeroderma pigmentosum's genetic association is recorded as ERCC5[14].
- xeroderma pigmentosum's genetic association is recorded as ERCC2[15].
- xeroderma pigmentosum's genetic association is recorded as ERCC4[16].
- xeroderma pigmentosum's genetic association is recorded as DDB2[17].
- xeroderma pigmentosum's genetic association is recorded as ERCC3[18].
- xeroderma pigmentosum's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050427[19].
- xeroderma pigmentosum's exact match is recorded as http://identifiers.org/doid/DOID:0050427[20].
- xeroderma pigmentosum's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_910[21].
- xeroderma pigmentosum's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
Why It Matters
xeroderma pigmentosum has Wikipedia articles in 22 language editions, a strong signal of global cultural recognition.[2] It is known by 12 alternative names across languages and contexts.[23]