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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:Vacuolar Myopathy
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Accession:DOID:9005189 term browser browse the term
Synonyms:exact_synonym: Autophagic vacuolar myopathy;   Myopathy, Autophagic Vacuolar, Infantile-Onset
 narrow_synonym: VMCQA;   vacuolar myopathy with CASQ1 aggregates
 primary_id: MESH:C536522;   RDO:0002133
 alt_id: OMIM:616231
For additional species annotation, visit the Alliance of Genome Resources.


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Vacuolar Myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates OMIM
ClinVar
PMID:16714317 PMID:25116801 PMID:25741868 PMID:26136523 PMID:28492532 NCBI chr13:90,592,676...90,602,365
Ensembl chr13:90,592,681...90,602,365
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        muscular disease 1191
          Vacuolar Myopathy 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                Vacuolar Myopathy 1
paths to the root