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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:MYOPATHY, SCAPULOHUMEROPERONEAL
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Accession:DOID:9002252 term browser browse the term
Definition:An autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. (OMIM)
Synonyms:exact_synonym: SHPM
 primary_id: OMIM:616852
For additional species annotation, visit the Alliance of Genome Resources.


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MYOPATHY, SCAPULOHUMEROPERONEAL term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, scapulohumeroperoneal ClinVar
OMIM
PMID:4952447 PMID:25938801 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        muscular disease 1218
          atrophic muscular disease 332
            muscular dystrophy 330
              MYOPATHY, SCAPULOHUMEROPERONEAL 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    muscular dystrophy 330
                      MYOPATHY, SCAPULOHUMEROPERONEAL 1
paths to the root