Online Mendelian Inheritance in Man - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619060 http://purl.bioontology.org/ontology/OMIM/619060
Preferred Name	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
Synonyms	MC4DN16
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC4DN16
prefLabel	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
Gene Symbol	COX4I1 MC4DN16 COX4
Scope Statement	Two sibs (family A) and an unrelated patient (patient B) have been reported (last curated October 2020) [MISCELLANEOUS] Caused by mutation in the cytochrome c oxidase, subunit 4I1 gene (COX4I1, 123864.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU002113 http://purl.bioontology.org/ontology/OMIM/MTHU047637 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU063758 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU072168 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU068101 http://purl.bioontology.org/ontology/OMIM/MTHU047926 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU000695 http://purl.bioontology.org/ontology/OMIM/MTHU071638 http://purl.bioontology.org/ontology/OMIM/MTHU072170 http://purl.bioontology.org/ontology/OMIM/MTHU001319 http://purl.bioontology.org/ontology/OMIM/MTHU012868 http://purl.bioontology.org/ontology/OMIM/MTHU022923 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU072169 http://purl.bioontology.org/ontology/OMIM/MTHU047925 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	16q22-qter
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619060
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436714
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display