Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618245 http://purl.bioontology.org/ontology/OMIM/618245
Preferred Name	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
Synonyms	MC1DN24
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC1DN24
prefLabel	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
Gene Symbol	NDUFB9 MC1DN24 UQOR22
Scope Statement	One family has been reported (last curated January 2019) [MISCELLANEOUS] Caused by mutation in the NADH-ubiquinone oxidoreductase subunit B9 gene (NDUFB9, 601445.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU062939 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000964
tui	T047
Gene Locus	8q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618245
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4748803
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display