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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 1
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Accession:DOID:0070199 term browser browse the term
Definition:A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: MMD1;   Miyoshi myopathy 1
 primary_id: OMIM:254130
 xref: NCI:C118846
For additional species annotation, visit the Alliance of Genome Resources.



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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:2764718 PMID:8808603 PMID:9731526 PMID:10196377 PMID:10825360 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Pathological Conditions, Signs and Symptoms 11300
      Anatomical Pathological Conditions 2253
        Atrophy 99
          muscular atrophy 84
            Miyoshi muscular dystrophy 2
              Miyoshi muscular dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  atrophic muscular disease 422
                    muscular dystrophy 420
                      distal myopathy 27
                        Miyoshi muscular dystrophy 2
                          Miyoshi muscular dystrophy 1 1
paths to the root