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
Facts
6 properties- Instance of
- class of disease
- Subclass of
- xeroderma pigmentosum[2]
- Health specialty
- medical genetics[4]
- NCI Thesaurus ID
- C114771[3]
- On focus list of Wikimedia project
- WikiProject Medicine[6]
🏷️ Also known as
en Xeroderma Pigmentosum 5
en xeroderma pigmentosum, complementation group E
en Xeroderma Pigmentosum, Complementation Group type E
en xeroderma pigmentosum group E
en xeroderma pigmentosum group type E
en xeroderma pigmentosum V
en XP5
en XP-E
en XPE
en Xp, Group E
en XP group E
🔖 Identifiers · 10
- Disease Ontology ID
- DOID:0110846
- Exact match
- purl.obolibrary.org, identifiers.org, www.orpha.net/…/Orphanet_276261, www.orpha.net/ORDO/Orphanet_910
- GARD rare disease ID
- 5627
- ICD-10-CM
- Q82.1
- MeSH descriptor ID
- C564732
- Mondo ID
- MONDO_0010213
- OMIM ID
- 278740
- Orphanet ID
- 276261
- UMLS CUI
- C1848411
- UniProt disease ID
- DI-01159
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Summary
xeroderma pigmentosum group E is a class of disease[1].