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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:Distal Myopathy 5
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Accession:DOID:9006602 term browser browse the term
Definition:An autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. (OMIM)
Synonyms:exact_synonym: ADSS1-RELATED CONDITION;   MPD5
 primary_id: OMIM:617030

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Distal Myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: Myopathy, distal, 5 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26506222 PMID:27868399 PMID:28268051 More... NCBI chrNW_004936621:655,004...667,608
Ensembl chrNW_004936621:655,008...664,762 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        muscular disease 2043
          muscle tissue disease 1226
            myopathy 950
              muscular dystrophy 574
                distal myopathy 31
                  Distal Myopathy 5 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              muscular disease 2043
                muscle tissue disease 1226
                  myopathy 950
                    muscular dystrophy 574
                      distal myopathy 31
                        Distal Myopathy 5 1
paths to the root