| Metadata | |
|---|---|
| ID | DOID:0080907 |
| Name | Cockayne syndrome A |
| Definition | 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. https://medlineplus.gov/genetics/condition/cockayne-syndrome/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Cockayne syndrome type 1 [EXACT] Cockayne syndrome type I [EXACT] |
| Parent Relationships |
is_a Cockayne syndrome |