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Term:
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-hydroxyisobutryl-CoA hydrolase deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Adams Nance Syndrome 
adenylosuccinase lyase deficiency  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alkaptonuria +   
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. (DO)
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-ketothiolase deficiency  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camptodactyly Taurinuria 
carboxypeptidase N deficiency  
cerebral creatine deficiency syndrome +   
congenital glutamine deficiency  
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
developmental and epileptic encephalopathy 116  
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
dimethylglycine dehydrogenase deficiency  
diphthamide deficiency syndrome +   
familial hypertryptophanemia  
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  
Glutaric Aciduria +   
glutathione synthetase deficiency +   
glycine encephalopathy +   
Glycinuria with or without Oxalate Urolithiasis  
Hartnup disease  
histidine metabolism disease +   
HMG-CoA synthase 2 deficiency  
homocystinuria +   
hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy  
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 
leucine-sensitive hypoglycemia of infancy  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
Mercaptolactate-Cysteine Disulfiduria 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
mitochondrial DNA depletion syndrome 5  
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities  
neurodevelopmental disorder with spastic paraplegia and microcephaly  
nuclear type mitochondrial complex I deficiency 20  
organic acidemia +   
oxoglutarate dehydrogenase deficiency  
pentosuria  
phenylketonuria +   
prolidase deficiency  
propionic acidemia +   
Richards-Rundle Syndrome 
sarcosinemia  
serine deficiency +   
succinic semialdehyde dehydrogenase deficiency  
systemic primary carnitine deficiency disease  
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +   
Tiglic Acidemia 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Valinemia +   
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  

Synonyms
Exact Synonyms: AKU ;   Alcaptonuria ;   Alcaptonurias ;   Homogentisic Acid Oxidase Deficiency ;   Homogentisic Acidura ;   homogentisate 1,2-dioxygenase deficiency
Related Synonyms: deficiency of homogentisicase
Primary IDs: MESH:D000474
Alternate IDs: MIM:203500
Xrefs: GARD:5775 ;   MONDO:0008753 ;   NCI:C84546 ;   ORDO:56
Definition Sources: http://en.wikipedia.org/wiki/Alkaptonuria "DO" "DO"

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