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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 the MICU1 gene on chromosome 10q22.1. (DO)
Synonyms:exact_synonym: MPXPS;   proximal myopathy with extrapyramidal signs
 primary_id: OMIM:615673
 xref: GARD:12978;   ORDO:401768


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Proximal myopathy with extrapyramidal signs		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:24033266 PMID:24336167 PMID:25741868 PMID:25741905 More... NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Muscle Weakness 281
          myopathy with extrapyramidal signs 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    myopathy with extrapyramidal signs 1
paths to the root