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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      electroclinical syndrome 395
        variable age at onset electroclinical syndrome 54
          progressive myoclonus epilepsy 49
            progressive myoclonus epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            movement disease 1158
              Dyskinesias 869
                Myoclonus 90
                  Myoclonic Epilepsies 82
                    progressive myoclonus epilepsy 49
                      progressive myoclonus epilepsy 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.