| Metadata | |
|---|---|
| ID | DOID:0110846 |
| Name | xeroderma pigmentosum group E |
| Definition | A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/3339259, https://www.ncbi.nlm.nih.gov/pubmed/8798680 |
| Xrefs | |
| Synonyms |
xeroderma pigmentosum V [EXACT] XP group E [EXACT] XP5 [EXACT] XPE [EXACT] |
| Parent Relationships |