ONTOLOGY REPORT - ANNOTATIONS


Term:myofibrillar myopathy 8
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 14823
    Developmental Diseases 7637
      congenital structural myopathy 134
        myofibrillar myopathy 54
          myofibrillar myopathy 8 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    congenital structural myopathy 134
                      myofibrillar myopathy 54
                        myofibrillar myopathy 8 1
paths to the root

NHLBI Logo

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