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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
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Cockayne syndrome (is_a)