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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
 xref: NCI:C181002



show annotations for term's descendants           Sort by:
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 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A no_association ISO DNA:mutations: :multiple
DNA:splice-site mutation:intron:IVS19+1G>C (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
OMIM
CTD
ClinVar
RGD
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... RGD:11062645, RGD:11062645, RGD:11535976 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500 PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
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 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      ciliopathy 1022
        Joubert syndrome 414
          Joubert syndrome 9 6
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    Joubert syndrome 9 6
paths to the root