Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618251
http://purl.bioontology.org/ontology/OMIM/618251
Preferred Name

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
Synonyms
MC1DN31
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MC1DN31
prefLabel
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
Gene Symbol
MC1DN31
TIMMDC1
C3orf1
Scope Statement
Caused by mutation in the translocase of inner mitochondrial membrane domain-containing protein 1 gene (TIMMDC1, 615534.0001) [MOLECULAR BASIS]
Three unrelated families have been reported (last curated January 2019) [MISCELLANEOUS]
Early death may occur [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU037613
http://purl.bioontology.org/ontology/OMIM/MTHU062937
http://purl.bioontology.org/ontology/OMIM/MTHU062939
http://purl.bioontology.org/ontology/OMIM/MTHU010928
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU022749
http://purl.bioontology.org/ontology/OMIM/MTHU055763
http://purl.bioontology.org/ontology/OMIM/MTHU000282
http://purl.bioontology.org/ontology/OMIM/MTHU004110
http://purl.bioontology.org/ontology/OMIM/MTHU078399
http://purl.bioontology.org/ontology/OMIM/MTHU078398
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU000700
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU000152
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
3q13.33
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618251
Semantic type UMLS property
Has inheritance type
cui
C4748838
OMIM Entry Type
3
OMIM MimType Value
pound
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