Concept information
Preferred term
Enzymopathy
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
- 5,10-Methylenetetrahydrofolate reductase deficiency
- 5-Oxoprolinase deficiency
- Acquired lactase deficiency
- Acyl-CoA dehydrogenase deficiency
- Adult hypophosphatasia
- Aminomethyltransferase deficiency
- beta-Aminoisobutyricaciduria
- Childhood hypophosphatasia
- Cholesterol monooxygenase (side-chain cleaving) deficiency
- Congenital lactase deficiency
- Congenital pancreatic enterokinase deficiency
- Corticosterone 18-monooxygenase deficiency
- Crigler-Najjar syndrome
- Deficiency of steryl-sulfatase
- Dihydropteridine reductase deficiency
- Dihydrouracil dehydrogenase (NADP^+^) deficiency
- Disorder of lysosomal enzyme
- Ehlers-Danlos syndrome, procollagen proteinase deficient
- Essential benign fructosuria
- Ethanolaminosis
- Fructose-biphosphatase deficiency
- gamma-Glutamyltransferase deficiency
- Glutamate formiminotransferase deficiency
- Glutathione S-transferase deficiency
- Glutathione synthase deficiency with 5-oxoprolinuria
- Glycine dehydrogenase (decarboxylating) deficiency
- Hepatic methionine adenosyltransferase deficiency
- Hereditary fructosuria
- Hereditary orotic aciduria
- Hereditary xanthinuria
- Homocarnosinase deficiency
- Hyperammonemia, type III
- Hypertyrosinemia, Richner-Hanhart type
- Hypervalinemia
- Infantile hypophosphatasia
- Intestinal disaccharidase deficiency
- Intestinal enteropeptidase deficiency
- Iodotyrosine deiodination defect
- Isovaleryl-CoA dehydrogenase deficiency
- Kynureninase deficiency
- Lactase deficiency in diseases other than of the small intestine
- L-xylulose reductase deficiency
- Maple syrup urine disease
- Methylcrotonyl-CoA carboxylase deficiency
- Methylene THF reductase deficiency AND homocystinuria
- Muscle AMP deaminase deficiency
- Muscle L-lactate dehydrogenase deficiency
- Muscle phosphoglycerate mutase deficiency
- Nonpersistence of intestinal lactase
- Ornithine carbamoyltransferase deficiency
- Pancreatic alpha-Amylase deficiency
- Pancreatic colipase deficiency
- Phenylketonuria
- Phosphatidylcholine-sterol acyltransferase deficiency
- Primary hyperoxaluria
- Proline dehydrogenase deficiency
- Propionic acidemia
- Purine-nucleoside phosphorylase deficiency
- Pyruvate carboxylase deficiency
- Sarcosine dehydrogenase deficiency
- Sepiapterin reductase deficiency
- Specific enzyme deficiency
- Succinate-semialdehyde dehydrogenase deficiency
- Sulfite oxidase deficiency syndrome
- Testosterone 17-beta-dehydrogenase deficiency
- Tetrahydrofolate methyltransferase deficiency
- Urocanate hydratase deficiency
Is a
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/78548001
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