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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:Muscular Dystrophy, Animal
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Accession:DOID:9000887 term browser browse the term
Definition:MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals.
Synonyms:exact_synonym: Animal Muscular Dystrophies
 primary_id: MESH:D009137;   RDO:0006157
For additional species annotation, visit the Alliance of Genome Resources.


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Muscular Dystrophy, Animal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22795790 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Fkrp fukutin related protein ISO DNA:missense mutation:exon:p.P448L (1343C>T) (mouse) RGD PMID:20675713, PMID:21224063 RGD:11667960, RGD:11667970 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:20008564 RGD:10040985 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22795790 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Animal Diseases 1653
      Muscular Dystrophy, Animal 4
        White Muscle Disease 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                muscle tissue disease 814
                  myopathy 650
                    muscular dystrophy 315
                      Muscular Dystrophy, Animal 4
                        White Muscle Disease 0
paths to the root