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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:Actin-Accumulation Myopathy
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Accession:DOID:9007077 term browser browse the term
Synonyms:exact_synonym: Actin Filament Aggregate Myopathy;   Actin Myopathy;   Congenital Myopathy with Excess of Thin Filaments
 primary_id: MESH:C579880;   RDO:0015860
For additional species annotation, visit the Alliance of Genome Resources.



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Actin-Accumulation Myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Actin accumulation myopathy | ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:1351946 PMID:4952447 PMID:9185179 PMID:9401010 PMID:9536098 More... NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    physical disorder 4194
      congenital structural myopathy 170
        Actin-Accumulation Myopathy 3
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        peripheral nervous system disease 3016
          neuropathy 2803
            neuromuscular disease 2222
              muscular disease 1452
                muscle tissue disease 950
                  myopathy 779
                    congenital structural myopathy 170
                      Actin-Accumulation Myopathy 3
paths to the root