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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


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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 19100
    Animal Diseases 1753
      Muscular Dystrophy, Animal 4
        White Muscle Disease 0
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                muscle tissue disease 1347
                  atrophic muscular disease 667
                    Brody myopathy 663
                      muscular dystrophy 647
                        Muscular Dystrophy, Animal 4
                          White Muscle Disease 0
paths to the root