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ONTOLOGY REPORT - ANNOTATIONS
Term:progressive myoclonus epilepsy 4
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Accession:DOID:0111444 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1. (DO)
Synonyms:exact_synonym: ACTION MYOCLONUS-RENAL FAILURE SYNDROME;   AMRF;   EPM4;   Epilepsy, Progressive Myoclonic, 4, with or without Renal Failure;   MYOCLONUS-NEPHROPATHY SYNDROME;   Progressive Myoclonic Epilepsy 4
 primary_id: OMIM:254900
 alt_id: DOID:9002275;   RDO:0008399
 xref: ORDO:163696
For additional species annotation, visit the Alliance of Genome Resources.

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progressive myoclonus epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarb2 scavenger receptor class B, member 2 JBrowse link 14 17,064,173 17,115,620 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      electroclinical syndrome 338
        variable age at onset electroclinical syndrome 62
          progressive myoclonus epilepsy 57
            progressive myoclonus epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            movement disease 1011
              Dyskinesias 717
                Myoclonus 93
                  Myoclonic Epilepsies 89
                    progressive myoclonus epilepsy 57
                      progressive myoclonus epilepsy 4 1
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