Search Ontology:
Human Disease

Joubert syndrome 9

Term ID
DOID:0111004
Synonyms
  • JBTS9
Definition
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. https://www.ncbi.nlm.nih.gov/pubmed/18387594
References
Ontology
Human Disease   ( DOID:0111004 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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