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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:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
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 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:20008564 RGD:10040985 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22795790 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Animal Diseases 1687
      Muscular Dystrophy, Animal 4
        White Muscle Disease 0
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        peripheral nervous system disease 2989
          neuropathy 2780
            neuromuscular disease 2199
              muscular disease 1431
                muscle tissue disease 947
                  myopathy 777
                    muscular dystrophy 418
                      Muscular Dystrophy, Animal 4
                        White Muscle Disease 0
paths to the root