Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615917 http://purl.bioontology.org/ontology/OMIM/615917
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
Synonyms	COXPD20
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD20
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
Gene Symbol	COXPD20 KIAA1885 VARS2
Scope Statement	Caused by mutation in the valyl-tRNA synthetase 2 gene (VARS2, 612802.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Two unrelated patients have been reported (last curated July 2014) [MISCELLANEOUS] Variable features [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004921 http://purl.bioontology.org/ontology/OMIM/MTHU047304 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU037266 http://purl.bioontology.org/ontology/OMIM/MTHU047303 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU069864 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	6p21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615917
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4014660
OMIM Entry Type	3
OMIM MimType Value	pound

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