Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 4
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/611776
altLabel	MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFAF4 HRPAP20 C6ORF66 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 4 CHROMOSOME 6 OPEN READING FRAME 66 HORMONE-REGULATED PROLIFERATION-ASSOCIATED PROTEIN, 20-KD
cui	C1427260 C1838979
Gene Locus	6q16.1
Gene Symbol	NDUFAF4 HRPAP20 C6orf66
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/611776.0001
MIMTYPEMEANING	Gene with known sequence
notation	611776
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 4
tui	T028 T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537475	Medical Subject Headings	CUI