ZFIN Human Disease: Cockayne syndrome

OBO ID: DOID:2962

Term Name:	Cockayne syndrome		Search Ontology:
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

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (2)