Search Ontology:
Human Disease
xeroderma pigmentosum group E
- Term ID
- DOID:0110846
- Synonyms
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- xeroderma pigmentosum V
- XP group E
- XP5
- XPE
- Definition
- A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. (2)
- References
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- ICD10CM:Q82.1
- MIM:278740
- Ontology
- Human Disease ( DOID:0110846 )
- is a type of
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Genes Involved
Zebrafish Models