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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

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)