Cockayne syndrome

Term ID

DOID:2962

Synonyms

Cockayne's syndrome
Neill-Dingwall 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. (3)

References

GARD:6122
ICD10CM:Q87.19
MESH:D003057
NCI:C9460
ORDO:191
SNOMEDCT_US_2023_03_01:205832003
UMLS_CUI:C0009207

Ontology

Human Disease ( DOID:2962 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms
has subtype: cerebrooculofacioskeletal syndrome Cockayne syndrome A Cockayne syndrome B

cerebrooculofacioskeletal syndrome Cockayne syndrome A Cockayne syndrome B Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models