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ONTOLOGY REPORT - ANNOTATIONS


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
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Joubert syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
RGD:11062645
RGD:11535976
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872

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  disease 16021
    sensory system disease 4979
      eye disease 2391
        Eye Abnormalities 332
          Joubert syndrome 9 4
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  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5776
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Joubert syndrome 9 4
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