Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/618248 http://purl.bioontology.org/ontology/OMIM/618248
Preferred Name	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
Synonyms	MC1DN27
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC1DN27
prefLabel	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
Gene Symbol	MC1DN27 COXPD15 MTFMT
notation	618248
Scope Statement	Caused by mutation in the mitochondrial methionyl-tRNA formyltransferase gene (MTFMT, 611766.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Two unrelated patients have been reported (last curated January 2019) [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU029627 http://purl.bioontology.org/ontology/OMIM/MTHU062937 http://purl.bioontology.org/ontology/OMIM/MTHU062939 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU063007 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	15q22.31
tui	T047
cui	C4748826

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