OBO ID: DOID:0111000
Term Name: Joubert syndrome 5 Search Ontology:
Synonyms:
  • JBTS5
Definition: A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/16682973
References:
Ontology: Human Disease   ( DOID:0111000 )
Relationships
is a type of:
OTHER Joubert syndrome 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP290 Joubert syndrome 5 610188
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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