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Cockayne syndrome

Disease Summary
Associated Targets (13)
Tbio

10

Tchem

3


Explore Associated Targets
Mondo Description Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0016006:  Cockayne syndrome
GARD:0006122: 
MESH:D003057: 
NCIT:C9460: 
Orphanet:191: 
SCTID:21086008: 
UMLS:C0009207: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)