Xeroderma Pigmentosum Group A
Disease ID: disease_node_20382
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q82.1, MIM:278700 |
|---|---|
| Subclassof | DOID_0050427 |
| Data Source | DOID |
| Synonyms | XP group A, XP1, XPA, xeroderma pigmentosum 1, xeroderma pigmentosum complementation group A |
| Doid Label | xeroderma pigmentosum group A |
| Doid Description | A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. |
| Disease Node Id | disease_node_20382 |
| Doid Id | DOID_0110843 |
| Label | Xeroderma Pigmentosum Group A |
- Outgoing r'ship
SUBCLASS_OFto/from Xeroderma Pigmentosum(ID:disease_node_8034) (Disease)