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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:Reduced muscle carnitine level
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Accession:HP:0030362 term browser browse the term
Definition:A reduction in the level of carnitine in muscle tissue.
Comment:Carnitine deficiency may be observed in a systemic form or be limited to skeletal muscle tissue. Carnitine levels can be measured by assays of muscle tissue (biopsy). Alternatively, 1H-NMR spectroscopy can be used for qualitative measurement of muscle carnitine levels.
Synonyms:xref: UMLS:C4072902



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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of metabolism/homeostasis 0
        Abnormal tissue metabolite concentration 0
          Reduced muscle carnitine level 0
Path 2
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
              Reduced muscle carnitine level 0
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