Parent term(s)
Term with siblings
2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase deficiency +
adenylosuccinase lyase deficiency
alkaptonuria
argininosuccinic aciduria
beta-ketothiolase deficiency
branched-chain keto acid dehydrogenase kinase deficiency
Brunner Syndrome
cerebral creatine deficiency syndrome +
congenital glutamine deficiency
cystathioninuria
cystinuria
developmental and epileptic encephalopathy 116
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
familial hypertryptophanemia
fumarase deficiency
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
glycine encephalopathy
Hartnup disease
hawkinsinuria
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
homocystinuria
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
hydroxykynureninuria
hyperhomocysteinemia
hyperlysinemia
hypermethioninemia +
hyperprolinemia +
hypervalinemia and hyperleucine-isoleucinemia
leucine-sensitive hypoglycemia of infancy
lysinuric protein intolerance
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple carboxylase deficiency +
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with spastic paraplegia and microcephaly
ornithine translocase deficiency
oxoglutarate dehydrogenase deficiency
pentosuria
phenylketonuria
prolidase deficiency
sarcosinemia
serine deficiency +
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
tyrosinemia +
urea cycle disorder +
organic acidemia +
2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase deficiency +
adenylosuccinase lyase deficiency
alkaptonuria
argininosuccinic aciduria
beta-ketothiolase deficiency
branched-chain keto acid dehydrogenase kinase deficiency
Brunner Syndrome
cerebral creatine deficiency syndrome +
congenital glutamine deficiency
cystathioninuria
cystinuria
developmental and epileptic encephalopathy 116
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
familial hypertryptophanemia
fumarase deficiency
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
glycine encephalopathy
Hartnup disease
hawkinsinuria
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
homocystinuria
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
hydroxykynureninuria
hyperhomocysteinemia
hyperlysinemia
hypermethioninemia +
hyperprolinemia +
hypervalinemia and hyperleucine-isoleucinemia
leucine-sensitive hypoglycemia of infancy
lysinuric protein intolerance
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple carboxylase deficiency +
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with spastic paraplegia and microcephaly
ornithine translocase deficiency
oxoglutarate dehydrogenase deficiency
pentosuria
phenylketonuria
prolidase deficiency
sarcosinemia
serine deficiency +
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
tyrosinemia +
urea cycle disorder +
denotes an 'is-a' relationship