Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619355
http://purl.bioontology.org/ontology/OMIM/619355
Preferred Name

MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
Synonyms
MC4DN22
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MC4DN22
prefLabel
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
Gene Symbol
MC4DN22
COX16
Scope Statement
Based on a report of 2 unrelated patients (last curated May 2021) [MISCELLANEOUS]
Caused by mutation in the cytochrome c oxidase assembly factor 16 gene (COX16, 618064.0001) [MOLECULAR BASIS]
Death in infancy [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU073250
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU036657
http://purl.bioontology.org/ontology/OMIM/MTHU000317
http://purl.bioontology.org/ontology/OMIM/MTHU007912
http://purl.bioontology.org/ontology/OMIM/MTHU073251
http://purl.bioontology.org/ontology/OMIM/MTHU000226
http://purl.bioontology.org/ontology/OMIM/MTHU000964
http://purl.bioontology.org/ontology/OMIM/MTHU036362
http://purl.bioontology.org/ontology/OMIM/MTHU000195
http://purl.bioontology.org/ontology/OMIM/MTHU003649
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU073248
http://purl.bioontology.org/ontology/OMIM/MTHU073252
http://purl.bioontology.org/ontology/OMIM/MTHU004739
http://purl.bioontology.org/ontology/OMIM/MTHU003333
http://purl.bioontology.org/ontology/OMIM/MTHU073249
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU002596
See more
See less
tui
T047
Gene Locus
14q24.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619355
Semantic type UMLS property
Has inheritance type
cui
C5543491
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display