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mitochondrial complex I deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0100133

A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. [ GARD:0003908 ]

Synonyms: complex 1 mitochondrial respiratory chain deficiency isolated NADH-coenzyme Q reductase deficiency isolated complex I deficiency isolated NADH-ubiquinone reductase deficiency NADH coenzyme Q reductase deficiency isolated NADH-CoQ reductase deficiency isolated mitochondrial respiratory chain complex I deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:3908 (MONDO:GARD)
  • UMLS:C1838979 (MONDO:equivalentTo)
  • Orphanet:2609 (MONDO:equivalentTo)
  • DOID:0060536 (MONDO:equivalentTo)
  • NANDO:1200180 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:374101 (MONDO:equivalentTo)
  • MESH:C537475 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

creator

https://orcid.org/0000-0001-5208-3432

exactMatch

http://identifiers.org/medgen/374101

http://linkedlifedata.com/resource/umls/id/C1838979

http://www.orpha.net/ORDO/Orphanet_2609

http://purl.obolibrary.org/obo/DOID_0060536

http://identifiers.org/mesh/C537475

id

MONDO:0100133

seeAlso

https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency

Term relations