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Metadata
ID DOID:2962
Name Cockayne syndrome
Definition A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
http://en.wikipedia.org/wiki/Cockayne_syndrome, https://medlineplus.gov/genetics/condition/cockayne-syndrome/, https://www.ncbi.nlm.nih.gov/books/NBK1342/
Xrefs

GARD:6122

ICD10CM:Q87.19

MESH:D003057

NCI:C9460

ORDO:191

SNOMEDCT_US_2020_09_01:205832003

UMLS_CUI:C0009207

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Cockayne's syndrome [RELATED]

Neill-Dingwall syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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