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Summary Literature (0)
DOID:0080907 - Cockayne syndrome A

Disease Ontology 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.

Synonyms: Cockayne syndrome type 1, Cockayne syndrome type I

Xenbase Genes : ercc8


MIM:
MIM:216400 - COCKAYNE SYNDROME A; CSA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): Cockayne syndrome (is_a)