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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
 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 Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
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          Joubert syndrome 9 5
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  disease 14759
    disease of anatomical entity 13978
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              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Joubert syndrome 9 5
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