FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nuclear type mitochondrial complex I deficiency 20 ID (Ontology) DOID:0112072 (Human Disease)
Definition A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.
Also Known As "ACAD9 deficiency" ; "Acyl-CoA dehydrogenase 9 deficiency" ; "MC1DN20" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 nuclear type mitochondrial complex I deficiency 20       1      2
 for disease ribbon | nuclear type mitochondrial complex I deficiency 20       --       2
 model of | nuclear type mitochondrial complex I deficiency 20       1      2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______________________
mitochondrial complex I deficiency                   |
 |__nuclear type mitochondrial complex I deficiency__|
                                                     nuclear type mitochondrial complex I deficiency 20  3 rec.
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Is a autosomal recessive disease
nuclear type mitochondrial complex I deficiency
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Synonyms
  • "ACAD9 deficiency" EXACT
    "Acyl-CoA dehydrogenase 9 deficiency" EXACT
    "MC1DN20" EXACT OMO:0003012
    "mitochondrial complex 1 deficiency due to ACAD9 deficiency" EXACT
Secondary IDs
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MESH:C567006
MIM:611126
ORDO:99901
SNOMEDCT_US_2023_03_01:725046003
UMLS_CUI:C1970173