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Term:
Mitochondrial Complex I Deficiency, Nuclear Type 20 (DOID:9002076)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alkaptonuria +   
Alpha-Ketoglutarate Dehydrogenase Deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
Arakawa Syndrome 2  
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
Asparagine Synthetase Deficiency  
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camera Marugo Cohen Syndrome 
Camptodactyly Taurinuria 
carboxypeptidase N deficiency  
catecholaminergic polymorphic ventricular tachycardia 5  
cerebral creatine deficiency syndrome +   
coenzyme Q10 deficiency disease +   
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
Episodic Muscle Weakness, X-Linked 
familial hypertrophic cardiomyopathy +   
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency +   
fumarase deficiency  
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria 
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
Glutathione Synthetase Deficiency  
glycine encephalopathy +   
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Glycinuria with or without Oxalate Urolithiasis  
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Hartnup disease  
histidine metabolism disease +   
histidinemia  
homocystinuria +   
Hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
Hypertryptophanemia +   
Ichthyosis, Split Hairs, and Amino Aciduria 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Ketoadipicaciduria 
Ketosis +   
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
MALEYLACETOACETATE ISOMERASE DEFICIENCY  
maple syrup urine disease +   
Mercaptolactate-Cysteine Disulfiduria 
metabolic acidosis +   
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
Mitochondrial Complex I Deficiency, Nuclear Type 1  
Mitochondrial Complex I Deficiency, Nuclear Type 10  
Mitochondrial Complex I Deficiency, Nuclear Type 11  
Mitochondrial Complex I Deficiency, Nuclear Type 12  
Mitochondrial Complex I Deficiency, Nuclear Type 13  
Mitochondrial Complex I Deficiency, Nuclear Type 14  
Mitochondrial Complex I Deficiency, Nuclear Type 15  
Mitochondrial Complex I Deficiency, Nuclear Type 16  
Mitochondrial Complex I Deficiency, Nuclear Type 17  
Mitochondrial Complex I Deficiency, Nuclear Type 18  
Mitochondrial Complex I Deficiency, Nuclear Type 19  
Mitochondrial Complex I Deficiency, Nuclear Type 2  
Mitochondrial Complex I Deficiency, Nuclear Type 20  
Mitochondrial Complex I Deficiency, Nuclear Type 21  
Mitochondrial Complex I Deficiency, Nuclear Type 22  
Mitochondrial Complex I Deficiency, Nuclear Type 23  
Mitochondrial Complex I Deficiency, Nuclear Type 24  
Mitochondrial Complex I Deficiency, Nuclear Type 25  
Mitochondrial Complex I Deficiency, Nuclear Type 26  
Mitochondrial Complex I Deficiency, Nuclear Type 27  
Mitochondrial Complex I Deficiency, Nuclear Type 28  
Mitochondrial Complex I Deficiency, Nuclear Type 29  
Mitochondrial Complex I Deficiency, Nuclear Type 3  
Mitochondrial Complex I Deficiency, Nuclear Type 30  
Mitochondrial Complex I Deficiency, Nuclear Type 31  
Mitochondrial Complex I Deficiency, Nuclear Type 32  
Mitochondrial Complex I Deficiency, Nuclear Type 33  
Mitochondrial Complex I Deficiency, Nuclear Type 34 
Mitochondrial Complex I Deficiency, Nuclear Type 4  
Mitochondrial Complex I Deficiency, Nuclear Type 5  
Mitochondrial Complex I Deficiency, Nuclear Type 6  
Mitochondrial Complex I Deficiency, Nuclear Type 7  
Mitochondrial Complex I Deficiency, Nuclear Type 8  
Mitochondrial Complex I Deficiency, Nuclear Type 9  
mitochondrial DNA depletion syndrome 5  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myopathy due to Malate-Aspartate Shuttle Defect 
myopathy with extrapyramidal signs  
N-Acetylaspartate Deficiency  
organic acidemia +   
ornithine translocase deficiency  
pentosuria  
phenylketonuria +   
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY  
POLYGLUCOSAN BODY MYOPATHY 2  
prolidase deficiency  
propionic acidemia +   
renal tubular acidosis +   
Respiratory Acidosis 
Richards-Rundle Syndrome 
Sarcosinemia  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
serine deficiency +   
succinic semialdehyde dehydrogenase deficiency  
Succinyl-CoA:3-oxoacid CoA transferase deficiency  
systemic primary carnitine deficiency disease  
Tiglic Acidemia 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Urocanase Deficiency  
Valinemia 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  

Synonyms
Exact Synonyms: ACAD9 DEFICIENCY ;   ACYL-CoA DEHYDROGENASE 9 DEFICIENCY ;   Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of ;   mitochondrial complex I deficiency due to ACAD9 deficiency
Primary IDs: MESH:C567006
Alternate IDs: OMIM:611126 ;   RDO:0015196

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