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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 7
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Accession:DOID:9003346 term browser browse the term
Definition:An X-linked recessive disorder affecting only males characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. Caused by hemizygous mutation in the SMPX gene on chromosome Xp22.
Synonyms:exact_synonym: MPD7;   X-linked adult-onset distal myopathy 7
 primary_id: OMIM:301075



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Distal Myopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: Myopathy, distal, 7, adult-onset, X-linked OMIM
ClinVar
PMID:28492532 PMID:33974137 NCBI chr  X:37,233,209...37,292,266
Ensembl chr  X:37,234,294...37,276,708
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      musculoskeletal system disease 8247
        muscular disease 2129
          muscle tissue disease 1278
            myopathy 992
              muscular dystrophy 586
                distal myopathy 30
                  Distal Myopathy 7 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        peripheral nervous system disease 4091
          neuropathy 3876
            neuromuscular disease 3041
              muscular disease 2129
                muscle tissue disease 1278
                  myopathy 992
                    muscular dystrophy 586
                      distal myopathy 30
                        Distal Myopathy 7 1
paths to the root