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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:inborn mitochondrial metabolism disorder
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Accession:EFO:MONDO:0004069 term browser browse the term
Definition:Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Synonyms:broad_synonym: mitochondrial disease
 related_synonym: mitochondrial genetic disorders;   mitochondrial metabolism disease
 alt_id: MONDO:0004069
 xref: DOID:700;   GARD:18887;   MEDGEN:1778113;   MESH:D028361;   NANDO:1200173;   NANDO:2100163;   ORDO:68380;   UMLS:C1456275
 see_also: https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders" xsd:anyURI {source="GARD:0007048


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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
          mitochondrial disease 0
            inborn mitochondrial metabolism disorder 0
              3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0
              HSD10 mitochondrial disease + 0
              OPA1-related optic atrophy with or without extraocular features + 0
              fumaric aciduria 0
              histiocytoid cardiomyopathy 0
              hypotonia-cystinuria syndrome + 0
              inborn mitochondrial myopathy + 0
              inherited lipoic acid biosynthesis defect + 0
              mitochondrial complex deficiency + 0
              mitochondrial membrane transport disorder + 0
              mitochondrial oxidative phosphorylation disorder + 0
              mitochondrial pyruvate carrier deficiency 0
              multiple acyl-CoA dehydrogenase deficiency + 0
              oxoglutaricaciduria 0
              pyruvate dehydrogenase deficiency + 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inborn disorder of energy metabolism 0
                inborn mitochondrial metabolism disorder 0
                  3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0
                  HSD10 mitochondrial disease + 0
                  OPA1-related optic atrophy with or without extraocular features + 0
                  fumaric aciduria 0
                  histiocytoid cardiomyopathy 0
                  hypotonia-cystinuria syndrome + 0
                  inborn mitochondrial myopathy + 0
                  inherited lipoic acid biosynthesis defect + 0
                  mitochondrial complex deficiency + 0
                  mitochondrial membrane transport disorder + 0
                  mitochondrial oxidative phosphorylation disorder + 0
                  mitochondrial pyruvate carrier deficiency 0
                  multiple acyl-CoA dehydrogenase deficiency + 0
                  oxoglutaricaciduria 0
                  pyruvate dehydrogenase deficiency + 0
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