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mitochondrial complex III deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0015448

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). [ Orphanet:1460 ]

Synonyms: isolated coenzyme Q-cytochrome C reductase deficiency isolated mitochondrial respiratory chain complex III deficiency isolated CoQ-cytochrome C reductase deficiency isolated ubiquinone-cytochrome C reductase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0111139 (MONDO:equivalentTo)
  • GARD:8295 (MONDO:GARD)
  • MEDGEN:377658 (MONDO:equivalentTo)
  • UMLS:C1852372 (MONDO:equivalentTo)
  • Orphanet:1460 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_1460

http://linkedlifedata.com/resource/umls/id/C1852372

http://identifiers.org/medgen/377658

http://purl.obolibrary.org/obo/DOID_0111139

has related synonym

isolated complex III deficiency

id

MONDO:0015448

Term relations