Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619061 http://purl.bioontology.org/ontology/OMIM/619061
Preferred Name	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17
Synonyms	MC4DN17
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC4DN17
prefLabel	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17
Gene Symbol	APOPT1 MC4DN17 APOP
Scope Statement	Variable severity and progression [MISCELLANEOUS] Onset in early childhood [MISCELLANEOUS] Features tend to stabilize over time [MISCELLANEOUS] Caused by mutation in the mitochondrial apoptogenic protein 1 gene (APOPT1, 616003.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU064664 http://purl.bioontology.org/ontology/OMIM/MTHU072171 http://purl.bioontology.org/ontology/OMIM/MTHU003329 http://purl.bioontology.org/ontology/OMIM/MTHU004323 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU071638 http://purl.bioontology.org/ontology/OMIM/MTHU012868 http://purl.bioontology.org/ontology/OMIM/MTHU004059 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU022723 http://purl.bioontology.org/ontology/OMIM/MTHU014230 http://purl.bioontology.org/ontology/OMIM/MTHU025628 http://purl.bioontology.org/ontology/OMIM/MTHU042629 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	14q32.33
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619061
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436718
OMIM Entry Type	3
OMIM MimType Value	pound

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