ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert syndrome 8
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Accession:DOID:0111003 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. (DO)
Synonyms:exact_synonym: JBTS8
 primary_id: MESH:C567358;   RDO:0015449
 alt_id: OMIM:612291
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Joubert syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:7240710
RGD:8554872
RGD:11553937

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Path 1
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  disease 14875
    syndrome 4220
      ciliopathy 192
        Joubert syndrome 59
          Joubert syndrome 8 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            cerebellar disease 314
              Joubert syndrome 59
                Joubert syndrome 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.