| Term Name: | Cockayne syndrome A |
|---|---|
| Synonyms: | Cockayne syndrome type 1, Cockayne syndrome type I |
| 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. |
| Ontology: | Human Disease [DOID:0080907] ( DOID:0080907 ) |