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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:Abnormality of mitochondrial metabolism
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Accession:HP:0003287 term browser browse the term
Definition:A functional anomaly of mitochondria.
Synonyms:exact_synonym: Mitochondrial dysfunction
 xref: UMLS:C4021734


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormal cellular phenotype 0
        Abnormal cellular physiology 0
          Abnormality of the mitochondrion 0
            Abnormality of mitochondrial metabolism 0
              Abnormal activity of mitochondrial respiratory chain + 0
              Abnormal iron deposition in mitochondria 0
              Abnormal mitochondria in muscle tissue 0
              Decreased 3-hydroxyacyl-CoA dehydrogenase level 0
              Decreased activity of the pyruvate dehydrogenase complex 0
              Decreased circulating carnitine concentration + 0
              Deficiency or absence of cytochrome b(-245) 0
              Electron transfer flavoprotein-ubiquinone oxidoreductase defect 0
              Mitochondrial depletion + 0
              Mitochondrial lysine transport defect 0
              Mitochondrial malic enzyme reduced 0
              Mitochondrial propionyl-CoA carboxylase defect 0
              Mitochondrial respiratory chain defects 0
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