Visualize
Metadata
DOID DOID:2962
Name Cockayne syndrome
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.
http://en.wikipedia.org/wiki/Cockayne_syndrome, http://en.wikipedia.org/wiki/ERCC6, http://en.wikipedia.org/wiki/ERCC8, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411
Xrefs

CSP2005:0977-5812

GARD:6122

ICD10CM:Q87.1

MESH:D003057

NCI:C9460

OMIM:133540

OMIM:216400

ORDO:191

ORDO:90321

ORDO:90322

ORDO:90324

SNOMEDCT_US_2018_03_01:21086008

UMLS_CUI:C0009207

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Cockayne's syndrome [RELATED]

Neill-Dingwall syndrome [EXACT]

Relationships

is_a autosomal recessive disease

Add an item to the term tracker