Xeroderma Pigmentosum Group D
Disease ID: disease_node_20380
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| Dbxref | ICD10CM:Q82.1, MIM:278730 |
|---|---|
| Subclassof | DOID_0050427 |
| Data Source | DOID |
| Synonyms | XP group D, XP group H, XP4, XP8, XPD, XPDC, XPH, xeroderma pigmentosum IV, xeroderma pigmentosum VIII |
| Doid Label | xeroderma pigmentosum group D |
| Doid Description | A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. |
| Disease Node Id | disease_node_20380 |
| Doid Id | DOID_0110845 |
| Label | Xeroderma Pigmentosum Group D |
- Outgoing r'ship
SUBCLASS_OFto/from Xeroderma Pigmentosum(ID:disease_node_8034) (Disease)