Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618239
http://purl.bioontology.org/ontology/OMIM/618239
Preferred Name

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
Synonyms
MC1DN17
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MC1DN17
prefLabel
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
Gene Symbol
NDUFAF6
C8orf38
MC1DN17
FRTS5
Scope Statement
Variable severity [MISCELLANEOUS]
Caused by mutation in the NADH-ubiquinone oxidoreductase complex assembly factor 6 gene (NDUFAF6, 612392.0001) [MOLECULAR BASIS]
Onset in infancy or early childhood [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU062937
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU036657
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU003217
http://purl.bioontology.org/ontology/OMIM/MTHU062958
http://purl.bioontology.org/ontology/OMIM/MTHU000964
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU001319
http://purl.bioontology.org/ontology/OMIM/MTHU012868
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU000301
http://purl.bioontology.org/ontology/OMIM/MTHU047240
http://purl.bioontology.org/ontology/OMIM/MTHU003493
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU001203
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
8q22.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618239
Semantic type UMLS property
Has inheritance type
cui
C4748786
OMIM Entry Type
3
OMIM MimType Value
pound
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