Concept information
Preferred term
Inborn error of metabolism
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 17 alpha-Hydroxyprogesterone aldolase deficiency
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- 5-Oxoprolinase deficiency
- Acetyl-CoA: carboxylase deficiency
- Albinism
- alpha, alpha-Trehalase deficiency
- Amino acid/carbohydrate metabolic disorder
- Aminomethyltransferase deficiency
- Argininosuccinate lyase deficiency
- Cholesterol monooxygenase (side-chain cleaving) deficiency
- Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism
- Corticosterone 18-monooxygenase deficiency
- Cystathionine beta-synthase deficiency
- Defect in post-translational modification of lysosomal enzymes
- Deficiency of histidine a-deaminase
- Deficiency of hydroxymethylglutaryl-CoA lyase
- Deficiency of methylmalonyl-CoA mutase
- Deficiency of proline dipeptidase
- Dihydropteridine reductase deficiency
- Disorder of pyruvate metabolism and mitochondrial respiratory chain
- Dyshormonogenic goitre
- Ehlers-Danlos syndrome, procollagen proteinase deficient
- Enterokinase deficiency
- Ethanolaminosis
- Familial renal iminoglycinuria
- Fructose-biphosphatase deficiency
- gamma-Glutamyltransferase deficiency
- Glucose-6-phosphate dehydrogenase deficiency anemia
- Glutamate-cysteine ligase deficiency
- Glutathione synthase deficiency with 5-oxoprolinuria
- Glycine dehydrogenase (decarboxylating) deficiency
- Hepatic methionine adenosyltransferase deficiency
- HNSHA due to hexokinase deficiency
- HNSHA due to NADH diaphorase deficiency
- Hyperammonemia, type III
- Hypertyrosinemia, Richner-Hanhart type
- Hypervalinemia
- Inborn error of glutathione metabolism
- Inborn error of lipoprotein metabolism
- Inherited disorder of bilirubin metabolism
- Inherited disorder of folate metabolism
- Inherited disorder of thyroid metabolism
- Inherited metabolic disorder of nervous system
- Intestinal enteropeptidase deficiency
- Isovaleryl-CoA dehydrogenase deficiency
- Kerasin thesaurismosis
- L-xylulose reductase deficiency
- Maple syrup urine disease
- Methylcrotonyl-CoA carboxylase deficiency
- Moderate steroid 21-hydroxylase deficiency
- Muscle phosphoglycerate mutase deficiency
- Ornithine carbamoyltransferase deficiency
- Pancreatic colipase deficiency
- Phenylketonuria
- Phosphatidylcholine-sterol acyltransferase deficiency
- Porphobilinogen synthase deficiency
- Primary hyperoxaluria
- Proline dehydrogenase deficiency
- Propionic acidemia
- Sarcosine dehydrogenase deficiency
- Severe steroid 21-hydroxylase deficiency
- Sex-linked ichthyosis
- Storage disease
- Succinate-semialdehyde dehydrogenase deficiency
- Sulfite oxidase deficiency syndrome
- Testosterone 17-beta-dehydrogenase deficiency
- Trypsinogen deficiency
- Urocanate hydratase deficiency
Occurrence
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/86095007
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