ONTOLOGY REPORT - ANNOTATIONS


Term:Jankovic Rivera Syndrome
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Accession:DOID:9005748 term browser browse the term
Synonyms:exact_synonym: Hereditary myoclonus and progressive distal muscular atrophy;   Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy;   SMAPME;   SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY
 primary_id: MESH:C537563;   OMIM:159950;   RDO:0003427
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Jankovic Rivera Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      Jankovic Rivera Syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    muscular dystrophy 242
                      distal myopathy 35
                        Jankovic Rivera Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.