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Term:Joubert Syndrome 27
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Accession:DOID:0110996 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. (DO)
Synonyms:exact_synonym: JBTS27
 primary_id: OMIM:617120;   RDO:9001266
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Joubert Syndrome 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      ciliopathy 224
        Joubert syndrome 69
          Joubert Syndrome 27 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Joubert Syndrome 27 1
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