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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


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Miyoshi muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi myopathy
ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Dysf dysferlin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive		 CTD
ClinVar		 PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 OMIM
ClinVar		 PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		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 ISO DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3		 OMIM
CTD
ClinVar
RGD		 PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:20692837 More... RGD:11570558 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 ClinVar PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Anatomical Pathological Conditions 2664
        Atrophy 359
          muscular atrophy 87
            Miyoshi muscular dystrophy 3
              Miyoshi muscular dystrophy 1 1
              Miyoshi muscular dystrophy 2 0
              Miyoshi muscular dystrophy 3 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              muscular disease 2147
                muscle tissue disease 1293
                  atrophic muscular disease 603
                    muscular dystrophy 599
                      distal myopathy 33
                        Miyoshi muscular dystrophy 3
                          Miyoshi muscular dystrophy 1 1
                          Miyoshi muscular dystrophy 2 0
                          Miyoshi muscular dystrophy 3 2
paths to the root