Online Mendelian Inheritance in Man - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615440 http://purl.bioontology.org/ontology/OMIM/615440
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
Synonyms	COXPD17
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD17
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
Gene Symbol	ELAC2 COXPD17 HPC2
Scope Statement	Onset in the first 6 months of life [MISCELLANEOUS] Death in early childhood may occur [MISCELLANEOUS] Caused by mutation in the elaC ribonuclease Z 2 gene (ELAC2, 605367.0006) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU044269 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU069691 http://purl.bioontology.org/ontology/OMIM/MTHU044267 http://purl.bioontology.org/ontology/OMIM/MTHU038541 http://purl.bioontology.org/ontology/OMIM/MTHU055003 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU069690 http://purl.bioontology.org/ontology/OMIM/MTHU069689 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU069692 http://purl.bioontology.org/ontology/OMIM/MTHU001720 http://purl.bioontology.org/ontology/OMIM/MTHU012782 See more See less
tui	T047
Gene Locus	17p11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615440
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3809526
OMIM Entry Type	3
OMIM MimType Value	pound

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