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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Pathological Conditions, Signs and Symptoms 8761
      Anatomical Pathological Conditions 1554
        Atrophy 92
          muscular atrophy 79
            Miyoshi muscular dystrophy 3
              Miyoshi muscular dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  atrophic muscular disease 316
                    muscular dystrophy 314
                      distal myopathy 24
                        Miyoshi muscular dystrophy 3
                          Miyoshi muscular dystrophy 1 1
paths to the root