Online Mendelian Inheritance in Man - ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617086 http://purl.bioontology.org/ontology/OMIM/617086
Preferred Name	ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
Synonyms	EMPF2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EMPF2
prefLabel	ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
Gene Symbol	MFF C2orf33 EMPF2
Scope Statement	Death in childhood (in some patients) [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the mitochondrial fission factor gene (MFF, 614785.0001) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU006120 http://purl.bioontology.org/ontology/OMIM/MTHU055975 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU036444 http://purl.bioontology.org/ontology/OMIM/MTHU055978 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU007130 http://purl.bioontology.org/ontology/OMIM/MTHU055009 http://purl.bioontology.org/ontology/OMIM/MTHU012538 http://purl.bioontology.org/ontology/OMIM/MTHU002513 http://purl.bioontology.org/ontology/OMIM/MTHU055010 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU055976 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU055980 http://purl.bioontology.org/ontology/OMIM/MTHU040197 http://purl.bioontology.org/ontology/OMIM/MTHU000700 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU055977 http://purl.bioontology.org/ontology/OMIM/MTHU055979 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	2q36.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617086
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4310726
OMIM Entry Type	3
OMIM MimType Value	pound

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