Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/301021 http://purl.bioontology.org/ontology/OMIM/301021
Preferred Name	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
Synonyms	MC1DN30
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC1DN30
prefLabel	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
Gene Symbol	NDUFB11 MC1DN30 LSDMCA3
Scope Statement	Caused by mutation in the NADH-ubiquinone oxidoreductase subunit B11 gene (NDUFB11, 300403.0003) [MOLECULAR BASIS] Onset at birth [MISCELLANEOUS] Neonatal death [MISCELLANEOUS] One patient has been reported (last curated January 2018) [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/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU036658 http://purl.bioontology.org/ontology/OMIM/MTHU002595 http://purl.bioontology.org/ontology/OMIM/MTHU025962 http://purl.bioontology.org/ontology/OMIM/MTHU049299 http://purl.bioontology.org/ontology/OMIM/MTHU012782 See more See less
tui	T047
Gene Locus	Xp11.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	301021
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU001678
cui	C4746985
OMIM Entry Type	3
OMIM MimType Value	pound

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