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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:Miyoshi muscular dystrophy 3
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Accession:DOID:0070201 term browser browse the term
Definition:A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. (DO)
Synonyms:exact_synonym: MMD3;   Miyoshi myopathy 3
 primary_id: MESH:C567645
 alt_id: OMIM:613319
For additional species annotation, visit the Alliance of Genome Resources.



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Miyoshi muscular dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)
ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3
OMIM
ClinVar
RGD
PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:21186264 More... RGD:11570558 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Pathological Conditions, Signs and Symptoms 11166
      Anatomical Pathological Conditions 2142
        Atrophy 100
          muscular atrophy 85
            Miyoshi muscular dystrophy 2
              Miyoshi muscular dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          neuropathy 2767
            neuromuscular disease 2186
              muscular disease 1418
                muscle tissue disease 935
                  atrophic muscular disease 420
                    muscular dystrophy 418
                      distal myopathy 26
                        Miyoshi muscular dystrophy 2
                          Miyoshi muscular dystrophy 3 1
paths to the root