Xeroderma Pigmentosum Group E
Disease ID: disease_node_20379
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q82.1, MIM:278740 |
|---|---|
| Subclassof | DOID_0050427 |
| Data Source | DOID |
| Synonyms | XP group E, XP5, XPE, xeroderma pigmentosum V |
| Doid Label | xeroderma pigmentosum group E |
| Doid Description | A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. |
| Disease Node Id | disease_node_20379 |
| Doid Id | DOID_0110846 |
| Label | Xeroderma Pigmentosum Group E |
- Outgoing r'ship
SUBCLASS_OFto/from Xeroderma Pigmentosum(ID:disease_node_8034) (Disease)