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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:progressive muscular atrophy
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Accession:DOID:318 term browser browse the term
Synonyms:exact_synonym: Duchenne-Aran muscular atrophy;   progressive muscular atrophies;   progressive spinal muscular atrophy;   pure progressive muscular atrophy
 xref: ICD9CM:335.21;   NCI:C85027
For additional species annotation, visit the Alliance of Genome Resources.


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progressive muscular atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Progressive spinal muscular atrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        neurodegenerative disease 3507
          motor neuron disease 399
            progressive muscular atrophy 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              motor neuron disease 399
                spinal muscular atrophy 127
                  progressive muscular atrophy 1
paths to the root