Term Name: | Cockayne syndrome A |
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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 ) |