Online Mendelian Inheritance in Man - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618397 http://purl.bioontology.org/ontology/OMIM/618397
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
Synonyms	COXPD39
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD39
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
Gene Symbol	RRF EFG2 GFM2
Scope Statement	Caused by mutation in the mitochondrial elongation factor G2 gene (GFM2, 606544.0001) [MOLECULAR BASIS] Onset in first years of life [MISCELLANEOUS] Some patients may have normal early development and then show regression [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU047059 http://purl.bioontology.org/ontology/OMIM/MTHU036336 http://purl.bioontology.org/ontology/OMIM/MTHU006120 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU010738 http://purl.bioontology.org/ontology/OMIM/MTHU004128 http://purl.bioontology.org/ontology/OMIM/MTHU025317 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU007066 http://purl.bioontology.org/ontology/OMIM/MTHU064572 http://purl.bioontology.org/ontology/OMIM/MTHU024399 http://purl.bioontology.org/ontology/OMIM/MTHU036798 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU064575 http://purl.bioontology.org/ontology/OMIM/MTHU049055 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU001319 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU029059 http://purl.bioontology.org/ontology/OMIM/MTHU009867 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU064143 http://purl.bioontology.org/ontology/OMIM/MTHU047240 http://purl.bioontology.org/ontology/OMIM/MTHU004739 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU007266 http://purl.bioontology.org/ontology/OMIM/MTHU064573 http://purl.bioontology.org/ontology/OMIM/MTHU022723 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU059595 See more See less
tui	T047
Gene Locus	5q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618397
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5193075
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display