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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Joubert syndrome 9
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Accession:DOID:0111004 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO)
Synonyms:exact_synonym: JBTS9
 narrow_synonym: JOUBERT SYNDROME 9/15, DIGENIC
 broad_synonym: CC2D2A-RELATED DISORDER
 primary_id: MESH:C567364
 alt_id: OMIM:612285;   RDO:0015455
For additional species annotation, visit the Alliance of Genome Resources.

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Joubert syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A no_association ISO ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
ClinVar Annotator: match by OMIM:612285
ClinVar Annotator: match by null
DNA:mutations: :multiple
DNA:splice-site mutation:intron:IVS19+1G>C (human)		 OMIM
ClinVar		 PMID:8253763 PMID:18387594 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23692786 PMID:24033266 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28492532 PMID:30311386 PMID:32488064, PMID:22241855, PMID:22241855, PMID:19068953 RGD:11062645, RGD:11062645, RGD:11535976 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419 		JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500 PMID:22246503 PMID:28492532 PMID:30664616 NCBI chr 4:57,966,783...58,006,931
Ensembl chr 4:57,966,783...58,006,839 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 PMID:28492532 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        Eye Abnormalities 365
          Joubert syndrome 9 5
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    Joubert syndrome 9 5
paths to the root