Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

MITOCHONDRIAL METHIONYL-tRNA FORMYLTRANSFERASE

Synonyms

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

ID

http://purl.bioontology.org/ontology/OMIM/611766

altLabel

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

MTFMT

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY

cui

C1838951

C3554182

C1826321

Gene Locus

15q22.31

Gene Symbol

MTFMT

COXPD15

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/611766.0001

http://purl.bioontology.org/ontology/OMIM/611766.0003

http://purl.bioontology.org/ontology/OMIM/611766.0002

http://purl.bioontology.org/ontology/OMIM/611766.0008

http://purl.bioontology.org/ontology/OMIM/611766.0007

http://purl.bioontology.org/ontology/OMIM/611766.0004

http://purl.bioontology.org/ontology/OMIM/611766.0005

http://purl.bioontology.org/ontology/OMIM/611766.0006

MIMTYPEMEANING

Gene with known sequence

notation

611766

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

MITOCHONDRIAL METHIONYL-tRNA FORMYLTRANSFERASE

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564021 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP188506-2 Logical Observation Identifier Names and Codes CUI