Cockayne Syndrome A
Disease ID: disease_node_20211
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| Dbxref | GARD:1415, MIM:216400, ORDO:90321 |
|---|---|
| Subclassof | DOID_2962 |
| Data Source | DOID |
| Synonyms | Cockayne syndrome type 1, Cockayne syndrome type I |
| Doid Label | Cockayne syndrome A |
| Doid Description | A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. |
| Disease Node Id | disease_node_20211 |
| Doid Id | DOID_0080907 |
| Label | Cockayne Syndrome A |
- Outgoing r'ship
SUBCLASS_OFto/from Cockayne Syndrome(ID:disease_node_2144) (Disease)