OBO ID: DOID:0080908
Term Name: Cockayne syndrome B Search Ontology:
Synonyms:
  • Cockayne syndrome 2
  • Cockayne syndrome type II
Definition: A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. https://www.ncbi.nlm.nih.gov/books/NBK1342/
References:
Ontology: Human Disease   ( DOID:0080908 )
Relationships
is a type of:
OTHER Cockayne syndrome B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERCC6 Cockayne syndrome, type B 133540
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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