Cockayne syndrome A

Term ID

DOID:0080907

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. https://medlineplus.gov/genetics/condition/cockayne-syndrome/

References

• GARD:1415
• MIM:216400
• ORDO:90321

Ontology

Human Disease   ( DOID:0080907 )