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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • mitochondrial complex I deficiency (en)
described by
id
  • DOID:0060536
database_cross_reference
  • GARD:3908
  • MESH:C537475
  • OMIM:252010
  • ORDO:2609
  • SNOMEDCT_US_2021_09_01:237988006
  • UMLS_CUI:C1838979
has_exact_synonym
  • isolated mitochondrial respiratory chain complex I deficiency (en)
  • isolated NADH-CoQ reductase deficiency (en)
  • isolated NADH-coenzyme Q reductase deficiency (en)
  • isolated NADH-ubiquinone reductase deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
is subClassOf of
is topic of
is annotatedSource of
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