xeroderma pigmentosum group E
autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer
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xeroderma pigmentosum group E
Summary
xeroderma pigmentosum group E is a class of disease[1].
Key Facts
- xeroderma pigmentosum group E's instance of is recorded as class of disease[2].
- xeroderma pigmentosum group E's subclass of is recorded as xeroderma pigmentosum[3].
- xeroderma pigmentosum group E's MeSH descriptor ID is recorded as C564732[4].
- xeroderma pigmentosum group E's OMIM ID is recorded as 278740[5].
- xeroderma pigmentosum group E's Disease Ontology ID is recorded as DOID:0110846[6].
- xeroderma pigmentosum group E's Orphanet ID is recorded as 276261[7].
- xeroderma pigmentosum group E's NCI Thesaurus ID is recorded as C114771[8].
- xeroderma pigmentosum group E's health specialty is recorded as medical genetics[9].
- xeroderma pigmentosum group E's genetic association is recorded as DDB2[10].
- xeroderma pigmentosum group E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110846[11].
- xeroderma pigmentosum group E's exact match is recorded as http://identifiers.org/doid/DOID:0110846[12].
- xeroderma pigmentosum group E's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_276261[13].
- xeroderma pigmentosum group E's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_910[14].
- xeroderma pigmentosum group E's UMLS CUI is recorded as C1848411[15].
- xeroderma pigmentosum group E's ICD-10-CM is recorded as Q82.1[16].
- xeroderma pigmentosum group E's GARD rare disease ID is recorded as 5627[17].
- xeroderma pigmentosum group E's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- xeroderma pigmentosum group E's Mondo ID is recorded as MONDO_0010213[19].
- xeroderma pigmentosum group E's UniProt disease ID is recorded as DI-01159[20].