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2-hydroxyglutaric aciduria (DOID:0050573)
Annotations: Rat: (94) Mouse: (95) Human: (105) Chinchilla: (87) Bonobo: (93) Dog: (94) Squirrel: (92) Pig: (94)
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)
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 
adenylosuccinase lyase deficiency  
adrenoleukodystrophy +   
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alkaptonuria +   
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  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camptodactyly Taurinuria 
carboxypeptidase N deficiency  
cerebral creatine deficiency syndrome +   
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
Cysteine Peptiduria 
cystinuria +   
Defect of Tricarboxylic Acid Cycle 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimethylglycine Dehydrogenase Deficiency  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
fumarase deficiency  
GABA aminotransferase deficiency  
galactosemia +   
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency +   
glycine encephalopathy +   
Glycinuria with or without Oxalate Urolithiasis  
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
histidine metabolism disease +   
HMG-CoA synthase 2 deficiency  
homocystinuria +   
homocystinuria-megaloblastic anemia cblG type  
hyperhomocysteinemia +   
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy  
Hypertryptophanemia +   
Ichthyosis, Split Hairs, and Amino Aciduria 
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  
Leigh disease +   
Lesch-Nyhan syndrome +   
leucine-sensitive hypoglycemia of infancy  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Lysosomal Storage Diseases, Nervous System +   
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
Mercaptolactate-Cysteine Disulfiduria 
MERRF Syndrome +   
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
mitochondrial DNA depletion syndrome 5  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
nuclear type mitochondrial complex I deficiency 20  
oculocerebrorenal syndrome +   
organic acidemia +   
oxoglutarate dehydrogenase deficiency  
phenylketonuria +   
prolidase deficiency  
propionic acidemia +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Richards-Rundle Syndrome 
serine deficiency +   
Silengo Lerone Pelizza Syndrome 
succinic semialdehyde dehydrogenase deficiency  
systemic primary carnitine deficiency disease  
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +   
Tiglic Acidemia 
Tryptophanuria with Dwarfism 
tyrosinemia +   
urea cycle disorder +   
Valinemia +   
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
Wilson disease +   
Zellweger syndrome +   

Exact Synonyms: 2-Hga ;   2-hydroxyglutaricaciduria
Primary IDs: MESH:C535306
Alternate IDs: OMIA:001371
Xrefs: GARD:10761 ;   NCI:C128187
Definition Sources: "DO" "DO", "DO" "DO"

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