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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: AMRF;   EPM4;   action myoclonus-renal failure syndrome;   myoclonus nephropathy syndrome;   myoclonus-nephropathy syndromes;   progressive myoclonic epilepsy 4;   progressive myoclonic epilepsy 4, with or without renal failure
 primary_id: OMIM:254900
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by OMIM:254900
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure		 OMIM
ClinVar		 PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      electroclinical syndrome 704
        variable age at onset electroclinical syndrome 75
          progressive myoclonus epilepsy 70
            progressive myoclonus epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                Myoclonus 124
                  Myoclonic Epilepsies 119
                    progressive myoclonus epilepsy 70
                      progressive myoclonus epilepsy 4 1
paths to the root