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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:mitochondrial disease
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Accession:EFO:MONDO:0044970 term browser browse the term
Synonyms:alt_id: MONDO:0044970
 xref: MEDGEN:155901;   NANDO:1200173;   NANDO:2100163;   UMLS:C0751651
 external_ontology: disease_has_basis_in_dysfunction_of EFO:GO:0005739
 see_also: https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial
 external_ontology: in_taxon EFO:NCBITaxon:9606


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  experimental factor 555575
    material property 106349
      disposition 70894
        disease 70811
          mitochondrial disease 0
            Bjornstad syndrome 0
            GRACILE syndrome 0
            X-linked sideroblastic anemia with ataxia 0
            auditory neuropathy-optic atrophy syndrome 0
            autosomal dominant optic atrophy plus syndrome + 0
            ethylmalonic encephalopathy 0
            hereditary myopathy with lactic acidosis due to ISCU deficiency 0
            inborn mitochondrial metabolism disorder + 0
            maternally-inherited cardiomyopathy and hearing loss 0
            mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0
            optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0
            pure mitochondrial myopathy 0
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