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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
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Accession:DOID:0070198 term browser browse the term
Definition:A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)
Synonyms:exact_synonym: Miyoshi distal myopathy;   Miyoshi myopathy;   distal muscular dystrophy, late onset, autosomal recessive
 primary_id: MESH:C537480
 xref: GARD:9676;   OMIM:PS254130;   ORDO:45448



show annotations for term's descendants           Sort by:
Miyoshi muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Miyoshi myopathy ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G DYSF dysferlin IAGP
EXP
ClinVar Annotator: match by term: Miyoshi myopathy
ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive
ClinVar Annotator: match by term: Miyoshi muscular dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 More... NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G LOC130005441 ATAC-STARR-seq lymphoblastoid active region 4531 IAGP ClinVar Annotator: match by term: Miyoshi myopathy ClinVar NCBI chr11:22,193,373...22,193,462 JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 OMIM
ClinVar
PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G LOC110121121 VISTA enhancer hs1479 IAGP ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 ClinVar PMID:25741868 PMID:28492532 PMID:28904466 PMID:31019989 NCBI chr 2:71,670,883...71,673,762 JBrowse link
G LOC122787137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:71829831-71831030 IAGP ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 ClinVar PMID:9731526 PMID:11468312 PMID:16199547 PMID:16934466 PMID:17698709 More... NCBI chr 2:71,602,701...71,604,093 JBrowse link
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP
EXP
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:20692837 More... RGD:11570558 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    Pathological Conditions, Signs and Symptoms 20966
      Anatomical Pathological Conditions 3142
        Atrophy 443
          muscular atrophy 96
            Miyoshi muscular dystrophy 5
              Miyoshi muscular dystrophy 1 3
              Miyoshi muscular dystrophy 2 0
              Miyoshi muscular dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        peripheral nervous system disease 5330
          neuropathy 5078
            neuromuscular disease 4022
              muscular disease 2788
                muscle tissue disease 1704
                  atrophic muscular disease 841
                    muscular dystrophy 838
                      distal myopathy 67
                        Miyoshi muscular dystrophy 5
                          Miyoshi muscular dystrophy 1 3
                          Miyoshi muscular dystrophy 2 0
                          Miyoshi muscular dystrophy 3 1
paths to the root