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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:Hypertrophied muscle fibers
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Accession:HP:0100293 term browser browse the term
Definition:The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies.
Comment:Muscle hypertrophy can be assessed at the whole-muscle level (macroscopic methods) or the muscle fiber level (microscopic methods). This term refers to hypertrophy assessed at the microscopic level.
Synonyms:exact_synonym: Muscle fiber hypertrophy;   Muscle fibre hypertrophy
 xref: SNOMEDCT_US:42091004;   UMLS:C0333759


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Hypertrophied muscle fibers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:98905 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G TTN titin IAGP HPO ORPHA:178464 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the musculature 3200
          Abnormal skeletal muscle morphology 2012
            Abnormal muscle fiber morphology 286
              Hypertrophied muscle fibers 2
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