FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial complex I deficiency ID (Ontology) DOID:0060536 (Human Disease)
Definition A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
Also Known As "isolated mitochondrial respiratory chain complex I deficiency" ; "isolated NADH-coenzyme Q reductase deficiency" ; "isolated NADH-CoQ reductase deficiency" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes
 mitochondrial complex I deficiency       3      3
 model of | mitochondrial complex I deficiency       3       --
Spanning Tree (Parents/Children)
Only view relationship:
  inherited metabolic disorder
   |__mitochondrial metabolism disease
       |__mitochondrial complex I deficiency  75 rec.
           |__mitochondrial type mitochondrial complex I deficiency
           |   |__mitochondrial type mitochondrial complex I deficiency 1
           |__nuclear type mitochondrial complex I deficiency 72 rec.
           |   |__nuclear type mitochondrial complex I deficiency 1 2 rec.
           |   |__nuclear type mitochondrial complex I deficiency 2 2 rec.
           |   |__nuclear type mitochondrial complex I deficiency 3 6 rec.
           |   |__nuclear type mitochondrial complex I deficiency 4 4 rec.
           |   |__nuclear type mitochondrial complex I deficiency 5 7 rec.
           |   |__nuclear type mitochondrial complex I deficiency 6 2 rec.
           |   |__nuclear type mitochondrial complex I deficiency 7 2 rec.
           |   |__nuclear type mitochondrial complex I deficiency 8 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 9 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 10 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 11 2 rec.
           |   |__nuclear type mitochondrial complex I deficiency 12 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 13 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 14 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 15 3 rec.
           |   |__nuclear type mitochondrial complex I deficiency 16 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 17 8 rec.
           |   |__nuclear type mitochondrial complex I deficiency 18 6 rec.
           |   |__nuclear type mitochondrial complex I deficiency 19 2 rec.
           |   |__nuclear type mitochondrial complex I deficiency 20 3 rec.
           |   |__nuclear type mitochondrial complex I deficiency 21 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 22 3 rec.
           |   |__nuclear type mitochondrial complex I deficiency 23 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 24 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 25 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 26 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 27 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 28 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 29 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 30 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 31 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 32 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 33 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 34 1 rec.
           |__nuclear type mitochondrial complex I deficiency 35 1 rec.
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Is a mitochondrial metabolism disease
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Synonyms
  • "isolated mitochondrial respiratory chain complex I deficiency" EXACT
    "isolated NADH-coenzyme Q reductase deficiency" EXACT
    "isolated NADH-CoQ reductase deficiency" EXACT
    "isolated NADH-ubiquinone reductase deficiency" EXACT
Secondary IDs
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GARD:3908
MESH:C537475
ORDO:2609
SNOMEDCT_US_2023_03_01:237988006
UMLS_CUI:C1838979