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ONTOLOGY REPORT - ANNOTATIONS


Term:myofibrillar myopathy 8
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Accession:DOID:0080308 term browser browse the term
Definition:An autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization. (OMIM)
Synonyms:exact_synonym: MFM8
 primary_id: OMIM:617258
 alt_id: DOID:9006603;   RDO:9001496
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myofibrillar myopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 JBrowse link 4 176,565,733 176,581,976 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      congenital structural myopathy 129
        myofibrillar myopathy 54
          myofibrillar myopathy 8 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            neuromuscular disease 1504
              muscular disease 941
                muscle tissue disease 668
                  myopathy 547
                    congenital structural myopathy 129
                      myofibrillar myopathy 54
                        myofibrillar myopathy 8 1
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