Terminology Service for NFDI4Health
Xeroderma Pigmentosum, Complementation Group E
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http://purl.obolibrary.org/obo/NCIT_C114771
An 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. [ ]
Term info
Label
Xeroderma Pigmentosum, Complementation Group E
Synonyms
- XP-E
- Xeroderma Pigmentosum Group E
- Xeroderma Pigmentosum, Complementation Group E
Preferred Name
Xeroderma Pigmentosum, Complementation Group E
Semantic Type
Disease or Syndrome
UMLS CUI
C1848411
code
C114771