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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
 alt_id: OMIM:609500;   OMIM:616231
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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:28166811 More... NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      musculoskeletal system disease 7303
        muscular disease 1464
          Vacuolar Myopathy 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        peripheral nervous system disease 3064
          neuropathy 2846
            neuromuscular disease 2236
              muscular disease 1464
                Vacuolar Myopathy 1
paths to the root