Search Ontology:
Human Disease

Joubert syndrome 7

Term ID
DOID:0111002
Synonyms
  • JBTS7
Definition
A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. https://www.ncbi.nlm.nih.gov/pubmed/17558409
References
Ontology
Human Disease   ( DOID:0111002 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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