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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert syndrome 5
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Accession:DOID:0111000 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: JBTS5
 primary_id: MESH:C537688
 alt_id: OMIM:610188;   RDO:0003570
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Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:7246903
RGD:11537352

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      ciliopathy 200
        Joubert syndrome 52
          Joubert syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            cranial nerve disease 361
              ocular motility disease 102
                Joubert syndrome 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.