Online Mendelian Inheritance in Man - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619064 http://purl.bioontology.org/ontology/OMIM/619064
Preferred Name	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
Synonyms	MC4DN20
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC4DN20
prefLabel	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
Gene Symbol	MC4DN20 COX5A
Scope Statement	Onset in early infancy [MISCELLANEOUS] Caused by mutation in the cytochrome c oxidase, subunit 5A gene (COX5A, 603773.0001) [MOLECULAR BASIS] Death in infancy may occur [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009017 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU000253 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU072176 http://purl.bioontology.org/ontology/OMIM/MTHU004213 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU063758 http://purl.bioontology.org/ontology/OMIM/MTHU078409 http://purl.bioontology.org/ontology/OMIM/MTHU037923 http://purl.bioontology.org/ontology/OMIM/MTHU050767 http://purl.bioontology.org/ontology/OMIM/MTHU078408 http://purl.bioontology.org/ontology/OMIM/MTHU047816 http://purl.bioontology.org/ontology/OMIM/MTHU033938 http://purl.bioontology.org/ontology/OMIM/MTHU002522 http://purl.bioontology.org/ontology/OMIM/MTHU003105 http://purl.bioontology.org/ontology/OMIM/MTHU000204 http://purl.bioontology.org/ontology/OMIM/MTHU071757 http://purl.bioontology.org/ontology/OMIM/MTHU071638 http://purl.bioontology.org/ontology/OMIM/MTHU000816 http://purl.bioontology.org/ontology/OMIM/MTHU036658 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU001753 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU059004 http://purl.bioontology.org/ontology/OMIM/MTHU000730 See more See less
tui	T047
Gene Locus	15q25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619064
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436726
OMIM Entry Type	3
OMIM MimType Value	pound

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