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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert syndrome 15
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Accession:DOID:0110984 term browser browse the term
Definition:A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: JBTS15
 narrow_synonym: JOUBERT SYNDROME 12/15, DIGENIC;   JOUBERT SYNDROME 9/15, DIGENIC
 primary_id: OMIM:614464
 alt_id: RDO:9000486
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Joubert syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      ciliopathy 203
        Joubert syndrome 55
          Joubert syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  intellectual disability 1788
                    Joubert syndrome 15 1
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