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Cockayne syndrome A
Summary
- Synonym
-
- 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.
- Super Class
- Cockayne syndrome
External Links
- Disease Ontology
- DOID:0080907
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
