Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618250
http://purl.bioontology.org/ontology/OMIM/618250
Preferred Name

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
Synonyms
MC1DN29
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MC1DN29
prefLabel
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
Gene Symbol
TMEM126B
MC1DN29
Scope Statement
Patient A had a more severe phenotype with earlier onset [MISCELLANEOUS]
Caused by mutation in the transmembrane protein 126B gene (TMEM126B, 615533.0001) [MOLECULAR BASIS]
Onset of exercise intolerance in childhood or adolescence [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU009766
http://purl.bioontology.org/ontology/OMIM/MTHU001515
http://purl.bioontology.org/ontology/OMIM/MTHU063010
http://purl.bioontology.org/ontology/OMIM/MTHU063011
http://purl.bioontology.org/ontology/OMIM/MTHU062939
http://purl.bioontology.org/ontology/OMIM/MTHU000964
http://purl.bioontology.org/ontology/OMIM/MTHU036763
http://purl.bioontology.org/ontology/OMIM/MTHU004882
http://purl.bioontology.org/ontology/OMIM/MTHU013668
http://purl.bioontology.org/ontology/OMIM/MTHU036522
http://purl.bioontology.org/ontology/OMIM/MTHU002772
http://purl.bioontology.org/ontology/OMIM/MTHU036966
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU038981
http://purl.bioontology.org/ontology/OMIM/MTHU000966
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tui
T047
Gene Locus
11q14.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618250
Semantic type UMLS property
Has inheritance type
cui
C4748830
OMIM Entry Type
3
OMIM MimType Value
pound
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