OBO ID: DOID:0080907
Term Name: Cockayne syndrome A Search Ontology:
Synonyms:
  • Cockayne syndrome type 1
  • Cockayne syndrome type I
Definition: A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. https://medlineplus.gov/genetics/condition/cockayne-syndrome/
References:
Ontology: Human Disease   ( DOID:0080907 )
Relationships
is a type of:
OTHER Cockayne syndrome A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERCC8 Cockayne syndrome, type A 216400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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