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Summary Literature (0)
DOID:2962 - Cockayne syndrome

Disease Ontology Definition:An autosomal recessive disease that has material basis in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

Synonyms: Cockayne's syndrome, Neill-Dingwall syndrome,

Echinobase Genes : ercc6, ercc8

OMIM:133540 - cockayne syndrome b; csb
OMIM:216400 - cockayne syndrome a; csa

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)