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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
 alt_id: RDO:9000799
 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:24336167, PMID:25741868, PMID:28708303, PMID:29721912 NCBI chr20:29,284,833...29,433,617
Ensembl chr20:29,284,853...29,432,258
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Muscle Weakness 96
          myopathy with extrapyramidal signs 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    myopathy with extrapyramidal signs 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.