Online Mendelian Inheritance in Man - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618241 http://purl.bioontology.org/ontology/OMIM/618241
Preferred Name	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
Synonyms	MC1DN19
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC1DN19
prefLabel	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
Gene Symbol	MC1DN19 FOXRED1
Scope Statement	Caused by mutation in the FAD-dependent oxidoreductase domain-containing protein 1 gene (FOXRED1, 613622.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Two unrelated patients have been reported (last curated January 2019) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU008643 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU064001 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU037241 http://purl.bioontology.org/ontology/OMIM/MTHU062958 http://purl.bioontology.org/ontology/OMIM/MTHU006299 http://purl.bioontology.org/ontology/OMIM/MTHU001683 http://purl.bioontology.org/ontology/OMIM/MTHU004589 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU047240 http://purl.bioontology.org/ontology/OMIM/MTHU021502 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU021496 http://purl.bioontology.org/ontology/OMIM/MTHU060710 http://purl.bioontology.org/ontology/OMIM/MTHU032437 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU040091 http://purl.bioontology.org/ontology/OMIM/MTHU000730 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	11q24.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618241
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4748791
OMIM Entry Type	3
OMIM MimType Value	pound

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