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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 with extrapyramidal signs
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Accession:DOID:0111335 term browser browse the term
Definition:A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1. (DO)
Synonyms:exact_synonym: MPXPS;   proximal myopathy with extrapyramidal signs
 primary_id: OMIM:615673
 xref: GARD:12978;   ORDO:401768
For additional species annotation, visit the Alliance of Genome Resources.



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myopathy with extrapyramidal signs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Micu1 mitochondrial calcium uptake 1 ISO ClinVar Annotator: match by term: Myopathy with extrapyramidal signs OMIM
ClinVar
PMID:24033266 PMID:24336167 PMID:25741868 PMID:28708303 PMID:29721912 More... NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Pathological Conditions, Signs and Symptoms 10360
      Pathologic Processes 6851
        Muscle Weakness 97
          myopathy with extrapyramidal signs 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        peripheral nervous system disease 2581
          neuropathy 2374
            neuromuscular disease 1889
              muscular disease 1289
                muscle tissue disease 833
                  myopathy 668
                    myopathy with extrapyramidal signs 1
paths to the root