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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


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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 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A no_association IAGP
EXP		 DNA:mutations: :multiple
DNA:splice-site mutation:intron:IVS19+1G>C (human)
ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... RGD:11062645, RGD:11062645, RGD:11535976 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CEP41 centrosomal protein 41 IAGP ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500 PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 More... NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954 		JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      ciliopathy 1357
        Joubert syndrome 487
          Joubert syndrome 9 6
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  intellectual disability 7166
                    Joubert syndrome 9 6
paths to the root