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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hereditary skeletal muscle disorder
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Accession:EFO:MONDO:0700223 term browser browse the term
Definition:An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.
Synonyms:exact_synonym: genetic muscle disease;   genetic muscle disorder;   genetic muscular disease;   genetic muscular disorder;   hereditary muscle disorder
 alt_id: MONDO:0700223


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary skeletal muscle disorder 0
              Brody myopathy 0
              FHL1-related myopathy + 0
              Poland syndrome 0
              Wieacker-Wolff syndrome (spectrum) + 0
              congenital diaphragmatic hernia + 0
              congenital myopathy + 0
              hereditary inclusion-body myopathy + 0
              hereditary myopathy with lactic acidosis due to ISCU deficiency 0
              inherited rippling muscle disease + 0
              metabolic myopathy due to lactate transporter defect 0
              muscular dystrophy + 0
              myopathy caused by variation in CRPPA + 0
              myopathy caused by variation in FKRP + 0
              myopathy caused by variation in FKTN + 0
              myopathy caused by variation in GMPPB + 0
              myopathy caused by variation in POMGNT1 + 0
              myopathy caused by variation in POMGNT2 + 0
              myopathy caused by variation in POMT1 + 0
              myopathy caused by variation in POMT2 + 0
              myopathy due to calsequestrin and SERCA1 protein overload 0
              myopathy with abnormal lipid metabolism 0
              myosclerosis 0
              paramyotonia congenita of Von Eulenburg 0
              polyglucosan body myopathy + 0
              potassium-aggravated myotonia + 0
              proximal myopathy with extrapyramidal signs 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            muscle tissue disorder 0
              skeletal muscle disorder 0
                hereditary skeletal muscle disorder 0
                  Brody myopathy 0
                  FHL1-related myopathy + 0
                  Poland syndrome 0
                  Wieacker-Wolff syndrome (spectrum) + 0
                  congenital diaphragmatic hernia + 0
                  congenital myopathy + 0
                  hereditary inclusion-body myopathy + 0
                  hereditary myopathy with lactic acidosis due to ISCU deficiency 0
                  inherited rippling muscle disease + 0
                  metabolic myopathy due to lactate transporter defect 0
                  muscular dystrophy + 0
                  myopathy caused by variation in CRPPA + 0
                  myopathy caused by variation in FKRP + 0
                  myopathy caused by variation in FKTN + 0
                  myopathy caused by variation in GMPPB + 0
                  myopathy caused by variation in POMGNT1 + 0
                  myopathy caused by variation in POMGNT2 + 0
                  myopathy caused by variation in POMT1 + 0
                  myopathy caused by variation in POMT2 + 0
                  myopathy due to calsequestrin and SERCA1 protein overload 0
                  myopathy with abnormal lipid metabolism 0
                  myosclerosis 0
                  paramyotonia congenita of Von Eulenburg 0
                  polyglucosan body myopathy + 0
                  potassium-aggravated myotonia + 0
                  proximal myopathy with extrapyramidal signs 0
paths to the root