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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal muscle fiber protein expression
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Accession:HP:0030089 term browser browse the term
Definition:An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.
Synonyms:exact_synonym: Abnormal muscle fibre protein expression
 xref: UMLS:C4022653



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Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the musculature 0
          Abnormal skeletal muscle morphology 0
            Abnormal muscle fiber morphology 0
              Abnormal muscle fiber protein expression 0
                Abnormal muscle fiber alpha dystroglycan + 0
                Abnormal muscle fiber alpha sarcoglycan + 0
                Abnormal muscle fiber beta sarcoglycan + 0
                Abnormal muscle fiber calpain-3 + 0
                Abnormal muscle fiber delta sarcoglycan + 0
                Abnormal muscle fiber desmin + 0
                Abnormal muscle fiber dysferlin + 0
                Abnormal muscle fiber dystrophin expression + 0
                Abnormal muscle fiber emerin + 0
                Abnormal muscle fiber gamma sarcoglycan + 0
                Abnormal muscle fiber lamin A/C + 0
                Abnormal muscle fiber laminin beta 1 + 0
                Abnormal muscle fiber merosin expression + 0
                Abnormal muscle fiber myotilin + 0
                Abnormal muscle fiber valosin-containing protein + 0
                Reduced muscle collagen VI 0
                Reduced muscle fiber perlecan 0
paths to the root