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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:13592920
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      congenital structural myopathy 134
        myofibrillar myopathy 53
          myofibrillar myopathy 8 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  myopathy 521
                    congenital structural myopathy 134
                      myofibrillar myopathy 53
                        myofibrillar myopathy 8 1
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