Search Ontology:
Human Disease

Joubert syndrome 1

Term ID
DOID:0110980
Synonyms
  • cerebellooculorenal syndrome 1
  • cerebelloparenchymal disorder IV
  • CORS1
  • CPD4
  • JBTS1
Definition
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/19668216
References
Ontology
Human Disease   ( DOID:0110980 )
Relationships
is a type of
inverse disjoint_from
Other Pages
Genes Involved
Zebrafish Models