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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

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  disease 14759
    syndrome 4210
      ciliopathy 191
        Joubert syndrome 58
          Joubert syndrome 15 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Joubert syndrome 15 1
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