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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert Syndrome 28
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Accession:DOID:0110997 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: JBTS28
 primary_id: OMIM:617121;   RDO:9001267
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Joubert Syndrome 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      ciliopathy 200
        Joubert syndrome 52
          Joubert Syndrome 28 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    Joubert Syndrome 28 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.