Search Ontology:
Human Disease

Joubert syndrome 5

Term ID
DOID:0111000
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 Pages
Genes Involved
Zebrafish Models
Citations