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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
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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

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Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      electroclinical syndrome 336
        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 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            movement disease 1008
              Dyskinesias 718
                Myoclonus 92
                  Myoclonic Epilepsies 88
                    progressive myoclonus epilepsy 57
                      progressive myoclonus epilepsy 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.