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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 ClinVar Annotator: match by null
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
PMID:9673985, PMID:17132147, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23530687, PMID:23606453, PMID:23607914, PMID:23663589, PMID:23670307, PMID:24022920, PMID:24033266, PMID:24232312, PMID:24803842, PMID:24843231, PMID:25135358, PMID:25741868, PMID:25864073, PMID:25891276, PMID:26467025, PMID:27708273, PMID:27854218, PMID:27911336, PMID:28492532, PMID:30311386, PMID:20096397 RGD:11570558 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Miyoshi myopathy 3 ClinVar PMID:19901254, PMID:23768512, PMID:25326637, PMID:25681410, PMID:25741868, PMID:25770200, PMID:26133662 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Anatomical Pathological Conditions 1524
        Atrophy 97
          muscular atrophy 84
            Miyoshi muscular dystrophy 3
              Miyoshi muscular dystrophy 3 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  atrophic muscular disease 328
                    muscular dystrophy 326
                      distal myopathy 27
                        Miyoshi muscular dystrophy 3
                          Miyoshi muscular dystrophy 3 2
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.