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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:15364701 PMID:18308289 PMID:18424452 PMID:19454373 PMID:19597094 PMID:19847901 PMID:21670406 PMID:21796727 PMID:22032306 PMID:22767442 PMID:23225201 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 PMID:29261713 PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      electroclinical syndrome 393
        variable age at onset electroclinical syndrome 53
          progressive myoclonus epilepsy 48
            progressive myoclonus epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Dyskinesias 870
                Myoclonus 89
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      progressive myoclonus epilepsy 4 1
paths to the root