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Disease Ontology Browser
Cockayne syndrome (DOID:2962)
Synonyms: Cockayne's syndrome; Neill-Dingwall syndrome
Alt IDs: OMIM:133540, OMIM:216400, OMIM:216411, ICD10CM:Q87.1, MESH:D003057, NCI:C9460, ORDO:191, ORDO:90321, ORDO:90322, ORDO:90324, UMLS_CUI:C0009207
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.

Disease References using Mouse Models (5)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory