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Disease Ontology Browser
Cockayne syndrome A (DOID:0080907)
Alliance: disease page
Synonyms: Cockayne syndrome type 1; Cockayne syndrome type I
Alt IDs: OMIM:216400, ORDO:90321
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory