Concept information
Preferred term
Specific enzyme deficiency
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- Acetyl-CoA: carboxylase deficiency
- Adenosine deaminase deficiency
- Adenylosuccinate lyase deficiency
- alpha, alpha-Trehalase deficiency
- Arginase deficiency
- Argininosuccinate lyase deficiency
- Cystathionine beta-synthase deficiency
- Cystathionine gamma-lyase deficiency
- Deficiency of 17beta-hydroxysteroid dehydrogenase
- Deficiency of 2-hydroxyglutarate dehydrogenase
- Deficiency of 2-oxo-4-hydroxyglutarate aldolase
- Deficiency of 3alpha-hydroxycholanate dehydrogenase
- Deficiency of 3alpha-hydroxysteroid dehydrogenase
- Deficiency of 3-hydroxybutyrate dehydrogenase
- Deficiency of 3-hydroxybutyryl-CoA epimerase
- Deficiency of 3-hydroxyisobutyrate dehydrogenase
- Deficiency of 3-hydroxyisobutyryl CoA hydrolase
- Deficiency of 3'-nucleotidase
- Deficiency of 5'-nucleotidase
- Deficiency of 6-phosphogluconic dehydrogenase
- Deficiency of A-ase
- Deficiency of acetoacetyl-CoA reductase
- Deficiency of acetyl-CoA acylase
- Deficiency of acetyl-CoA deacylase
- Deficiency of acetyl-CoA hydrolase
- Deficiency of acetyl-CoA synthetase
- Deficiency of acetylglucosamine phosphomutase
- Deficiency of aconitase
- Deficiency of acylase
- Deficiency of acylphosphatase
- Deficiency of acyltransferase
- Deficiency of adenine aminase
- Deficiency of adenosylhomocysteinase
- Deficiency of adenylic acid deaminase
- Deficiency of adenylpyrophosphatase
- Deficiency of ADP deaminase
- Deficiency of alanine dehydrogenase
- Deficiency of alanyl-tRNA synthetase
- Deficiency of aldehyde dehydrogenase (NAD^+^)
- Deficiency of aldehyde-lyase
- Deficiency of aldehyde oxidase
- Deficiency of aldolase
- Deficiency of aldonolactonase
- Deficiency of alkaline phosphatase
- Deficiency of alkaline phosphomonoesterase
- Deficiency of alkylhalidase
- Deficiency of allantoicase
- Deficiency of allantoinase
- Deficiency of alpha-aminoacylpeptide hydrolase
- Deficiency of alpha- and beta-trypsin
- Deficiency of alpha-mannosidase
- Deficiency of amine ligase
- Deficiency of amine oxidase
- Deficiency of aminoacyl-histidine dipeptidase
- Deficiency of aminoacyltransferase
- Deficiency of aminopeptidase
- Deficiency of ammonia-lyase
- Deficiency of AMP nucleosidase
- Deficiency of angiotensinogenase
- Deficiency of arginine dihydrolase
- Deficiency of arylsulfatase
- Deficiency of aspartic proteinase
- Deficiency of ATP pyrophosphatase
- Deficiency of azobenzene reductase
- Deficiency of benzaldehyde dehydrogenase (NADP^+^)
- Deficiency of benzoylcholinesterase
- Deficiency of beta-diketonase
- Deficiency of beta-galactosidase
- Deficiency of beta-glucuronidase
- Deficiency of betaine-aldehyde dehydrogenase
- Deficiency of beta-keto-reductase
- Deficiency of beta-ureidopropionase
- Deficiency of bisphosphoglycerate phosphatase
- Deficiency of carbamoylaspartic dehydrase
- Deficiency of carbamoyltransferase
- Deficiency of carbamylaspartotranskinase
- Deficiency of carbon-carbon lyase
- Deficiency of carbon-halide lyase
- Deficiency of carbonic anhydrase
- Deficiency of carbon-nitrogen lyase
- Deficiency of carbon-oxygen lyase
- Deficiency of carbon-sulfur lyase
- Deficiency of carboxylic ester hydrolase
- Deficiency of carboxyltransferase
- Deficiency of carboxypolypeptidase
- Deficiency of carnosinase
- Deficiency of catalase
- Deficiency of cathepsin C
- Deficiency of ceruloplasmin
- Deficiency of chlorophyllase
- Deficiency of cholesterol esterase
- Deficiency of cholesterol oxidase
- Deficiency of choline dehydrogenase
- Deficiency of choline esterase I
- Deficiency of choline esterase II (unspecific)
- Deficiency of choline phosphatase
- Deficiency of choloyl-CoA synthetase
- Deficiency of chymotrypsin
- Deficiency of chymotrypsin A and B
- Deficiency of citrulline-aspartate ligase
- Deficiency of coenzyme-A transferase
- Deficiency of cortisone reductase
- Deficiency of cysteamine dioxygenase
- Deficiency of cysteine carboxypeptidase
- Deficiency of cysteine proteinase
- Deficiency of cysteine-sulfinate decarboxylase
- Deficiency of cysteinyl-glycine dipeptidase
- Deficiency of cystine reductase (NADH)
- Deficiency of cytidine deaminase
- Deficiency of cytochrome-b>5< reductase
- Deficiency of cytochrome-c peroxidase
- Deficiency of cytosol aminopeptidase
- Deficiency of D-2-hydroxy-acid dehydrogenase
- Deficiency of D-amino-acid oxidase
- Deficiency of D-aspartate oxidase
- Deficiency of decarboxylase
- Deficiency of dehydratase
- Deficiency of dehydrogenase
- Deficiency of desulfinase
- Deficiency of dextranase
- Deficiency of dextrin
- Deficiency of diamino oxhydrase
- Deficiency of dihydrouracil dehydrogenase (NAD^+^)
- Deficiency of diisopropylfluorophosphonate halogenase
- Deficiency of dioxygenase
- Deficiency of dipeptidase
- Deficiency of dipeptide hydrolase
- Deficiency of dipeptidylpeptide hydrolase
- Deficiency of diphosphomevalonate decarboxylase
- Deficiency of diphosphoric monoester hydrolase
- Deficiency of D-lactic acid dehydrogenase
- Deficiency of endo-1,4-beta-glucanase
- Deficiency of endoribonuclease
- Deficiency of enterokinase
- Deficiency of epimerase
- Deficiency of estradiol 6beta-hydroxylase
- Deficiency of ether hydrolase
- Deficiency of exo-1,3-alpha-glucanase
- Deficiency of exoribonuclease
- Deficiency of fatty acid thiokinase (long chain)
- Deficiency of ferrihemoprotein P450 reductase
- Deficiency of fibrinogenase
- Deficiency of fibrinolysin
- Deficiency of formaldehyde dehydrogenase
- Deficiency of formamidase
- Deficiency of formate dehydrogenase
- Deficiency of formiminotetrahydrofolate cyclodeaminase
- Deficiency of formyltetrahydrofolate deformylase
- Deficiency of formyltetrahydrofolate synthetase
- Deficiency of fumarase
- Deficiency of G-6PD
- Deficiency of galactonolactone dehydrogenase
- Deficiency of galactose dehydrogenase
- Deficiency of gentiobiase
- Deficiency of gentisate oxygenase
- Deficiency of glucoamylase
- Deficiency of gluconate 2-dehydrogenase
- Deficiency of gluconolactonase
- Deficiency of glucosamine-6-phosphate isomerase
- Deficiency of glucose-1-phosphatase
- Deficiency of glucose-6-phosphatase
- Deficiency of glucose dehydrogenase
- Deficiency of glucose oxyhydrase
- Deficiency of glucose phosphomutase
- Deficiency of glucosulfatase
- Deficiency of glutamate decarboxylase
- Deficiency of glutamate mutase
- Deficiency of glutamic dehydrogenase
- Deficiency of glutaminase
- Deficiency of glutamine synthetase
- Deficiency of glutaryl-CoA synthetase
- Deficiency of glutathione-homocystine transhydrogenase
- Deficiency of glutathione reductase (NAD(P)H)
- Deficiency of glutathione thiolesterase
- Deficiency of glycerate phosphomutase
- Deficiency of glycerophosphatase
- Deficiency of glycerophosphocholine phosphodiesterase
- Deficiency of glycogenase
- Deficiency of glycyl-glycine endopeptidase
- Deficiency of GMP synthetase (glutamine-hydrolysing)
- Deficiency of guanine aminase
- Deficiency of halogenase
- Deficiency of heparinase
- Deficiency of hexosediphosphatase
- Deficiency of hexose oxidase
- Deficiency of hexosyltransferase
- Deficiency of histidine a-deaminase
- Deficiency of histidine decarboxylase
- Deficiency of histidinol dehydrogenase
- Deficiency of HMG-CoA reductase
- Deficiency of homocysteine desulfhydrase
- Deficiency of hyaluronate lyase
- Deficiency of hyaluronidase
- Deficiency of hydrolase
- Deficiency of hydroxy-acid oxidase B
- Deficiency of hydroxyacylglutathione hydrolase
- Deficiency of hydroxylase
- Deficiency of hydroxymethylglutaryl-CoA hydrolase
- Deficiency of hydroxymethylglutaryl-CoA lyase
- Deficiency of hydroxymethylglutaryl-CoA synthase
- Deficiency of hypoxanthine oxidase
- Deficiency of imidodipeptidase
- Deficiency of iminodipeptidase
- Deficiency of IMP cyclohydrolase
- Deficiency of IMP dehydrogenase
- Deficiency of inorganic pyrophosphatase
- Deficiency of inosinase
- Deficiency of inosine nucleosidase
- Deficiency of iodotyrosine deiodase
- Deficiency of isocitric dehydrogenase
- Deficiency of isocitritase
- Deficiency of isoleucyl-tRNA synthetase
- Deficiency of isomaltase
- Deficiency of isomerase
- Deficiency of isopentenyl-diphosphate delta-isomerase
- Deficiency of ketogluconate dehydrogenase
- Deficiency of kynurenine 3-hydroxylase
- Deficiency of L-3-aldonate dehydrogenase
- Deficiency of lactic acid dehydrogenase
- Deficiency of lactic acid dehydrogenase (cytochrome)
- Deficiency of lacticoracemase
- Deficiency of lactonase
- Deficiency of laminarinase
- Deficiency of L-arabinose dehydrogenase
- Deficiency of L-asparagine amidohydrolase
- Deficiency of lecithinase C
- Deficiency of lecithinase D
- Deficiency of leucine aminopeptidase
- Deficiency of leucyl-tRNA synthetase
- Deficiency of lichenase
- Deficiency of ligase
- Deficiency of lipophosphodiesterase II
- Deficiency of long-chain fatty-acyl-CoA hydrolase
- Deficiency of L-prolylglycine dipeptidase
- Deficiency of lyase
- Deficiency of lysine racemase
- Deficiency of lysolecithin migratase
- Deficiency of lysyl-tRNA synthetase
- Deficiency of malate dehydrogenase (decarboxylating)
- Deficiency of malate oxidase
- Deficiency of maleylacetoacetate isomerase
- Deficiency of malic dehydrogenase
- Deficiency of malonyl-CoA decarboxylase
- Deficiency of maltase
- Deficiency of mannitol dehydrogenase
- Deficiency of melibiase
- Deficiency of metallocarboxypeptidase
- Deficiency of metalloproteinase
- Deficiency of methenyltetrahydrofolate cyclohydrolase
- Deficiency of methionine adenosyltransferase
- Deficiency of methionyl-tRNA synthetase
- Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)
- Deficiency of methylglutaconyl-CoA hydratase
- Deficiency of methylglyoxalase
- Deficiency of methylmalonyl-CoA mutase
- Deficiency of mevaldate reductase
- Deficiency of microsomal monooxygenase
- Deficiency of monoamine oxidase
- Deficiency of monobutyrase
- Deficiency of monodehydroascorbate reductase (NADH)
- Deficiency of muramidase
- Deficiency of mutarotase
- Deficiency of mutase
- Deficiency of myo-inositol oxygenase
- Deficiency of N-acetyl-beta-glucosaminidase
- Deficiency of N-acetylneuraminic acid aldolase
- Deficiency of NADase
- Deficiency of NAD^+^ nucleosidase
- Deficiency of NAD(P)^+^ nucleosidase
- Deficiency of NAD^+^ synthetase(glutamine-hydrolysing)
- Deficiency of NAPH cytochrome-c>2< reductase
- Deficiency of neuraminidase
- Deficiency of nicotinate dehydrogenase
- Deficiency of N-methyl-L-amino-acid oxidase
- Deficiency of non-specific cholinesterase
- Deficiency of nucleosidase
- Deficiency of nucleoside-diphosphatase
- Deficiency of nucleotidase
- Deficiency of nucleotide pyrophosphatase
- Deficiency of nucleotidyltransferase
- Deficiency of omega peptidase
- Deficiency of ophio-amino acid oxidase
- Deficiency of oxidase
- Deficiency of oxo-acid-lyase
- Deficiency of oxoglutarate decarboxylase
- Deficiency of oxygenase
- Deficiency of palmitoyl-CoA hydrolase
- Deficiency of pancreatic DNase II
- Deficiency of pancreatic elastase I
- Deficiency of pantothenoylcysteine decarboxylase
- Deficiency of paraoxonase
- Deficiency of pectinase
- Deficiency of pectinesterase
- Deficiency of pectin methoxylase
- Deficiency of pectin methylesterase
- Deficiency of pentosyltransferase
- Deficiency of pepsin
- Deficiency of pepsin B
- Deficiency of peptidase
- Deficiency of peptidase a
- Deficiency of peptide synthase
- Deficiency of peroxidase
- Deficiency of phenylalanine 4-hydroxylase
- Deficiency of phenylpyruvate tautomerase
- Deficiency of phosphatase
- Deficiency of phosphatidate phosphatase
- Deficiency of phosphatidolipase
- Deficiency of phosphoadenylate 3'-nucleotidase
- Deficiency of phosphoamidase
- Deficiency of phosphodiester hydrolase
- Deficiency of phosphogluconic acid dehydrogenase
- Deficiency of phosphoglyceromutase
- Deficiency of phosphohexose isomerase
- Deficiency of phosphoketolase
- Deficiency of phosphoketotetrose aldolase
- Deficiency of phosphokinase
- Deficiency of phospholipase B
- Deficiency of phospholipase D
- Deficiency of phosphomannose isomerase
- Deficiency of phosphomonoesterase
- Deficiency of phosphopantothenoylcysteine synthetase
- Deficiency of phosphopyruvate hydratase
- Deficiency of phosphoriboisomerase
- Deficiency of phosphoribosylaminoimidazole carboxylase
- Deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase
- Deficiency of phosphoribosylaminoimidazole synthetase
- Deficiency of phosphoribosylformylglycinamidine synthetase
- Deficiency of phosphoribosylglycinamide synthetase
- Deficiency of phosphoribulose epimerase
- Deficiency of phosphoric monoester hydrolase
- Deficiency of phosphorus-oxygen lyase
- Deficiency of phosphorylase phosphatase
- Deficiency of polyol dehydrogenase (NADP^+^)
- Deficiency of polyphenol oxidase
- Deficiency of prenyltransferase
- Deficiency of progesterone 11alpha-hydroxylase
- Deficiency of prolidase
- Deficiency of prolinase
- Deficiency of proline dipeptidase
- Deficiency of prolyl dipeptidase
- Deficiency of propionyl-CoA carboxylase
- Deficiency of protaminase
- Deficiency of protein phosphatase
- Deficiency of protocatechuate oxygenase
- Deficiency of pyridoxamine-phosphate oxidase
- Deficiency of pyrophosphokinase
- Deficiency of pyrroline-2-carboxylate reductase
- Deficiency of pyrroline-5-carboxylate reductase
- Deficiency of pyruvic decarboxylase
- Deficiency of pyruvic-malic carboxylase
- Deficiency of quinate dehydrogenase
- Deficiency of quinone reductase
- Deficiency of racemase
- Deficiency of reductase
- Deficiency of rennin
- Deficiency of respiratory nitrate reductase
- Deficiency of retinene isomerase
- Deficiency of retinyl-palmitate esterase
- Deficiency of ribonuclease
- Deficiency of ribosomal cathepsin
- Deficiency of ribosomal neutral proteinase
- Deficiency of saccharase
- Deficiency of saccharogen amylase
- Deficiency of sarcosine oxidase
- Deficiency of serine carboxypeptidase
- Deficiency of serine deaminase
- Deficiency of serine proteinase
- Deficiency of seryl-tRNA synthetase
- Deficiency of shikimate dehydrogenase
- Deficiency of squalene epoxidase
- Deficiency of steroid 11-beta-hydroxylase
- Deficiency of steroid 17-alpha-hydroxylase
- Deficiency of steroid 21-hydroxylase
- Deficiency of steroid delta-isomerase
- Deficiency of succinic dehydrogenase
- Deficiency of succinyl-CoA acylase
- Deficiency of sulfatase
- Deficiency of sulfite reductase
- Deficiency of sulfotransferase
- Deficiency of sulfurtransferase
- Deficiency of sulphuric ester hydrolase
- Deficiency of synthetase
- Deficiency of tannase
- Deficiency of tetrahydrofolate dehydrogenase
- Deficiency of thiaminase I
- Deficiency of thioether hydrolase
- Deficiency of thiolester hydrolase
- Deficiency of threonine aldolase
- Deficiency of threonine deaminase
- Deficiency of threonyl-tRNA synthetase
- Deficiency of thymonuclease
- Deficiency of transamidinase
- Deficiency of transaminase
- Deficiency of transferase
- Deficiency of transformiminase
- Deficiency of transformylase
- Deficiency of transglycosylase
- Deficiency of transhydrogenase
- Deficiency of transmethylase
- Deficiency of transoximinase
- Deficiency of triglyceride lipase
- Deficiency of trimetaphosphatase
- Deficiency of triosephosphate dehydrogenase
- Deficiency of tripeptide aminopeptidase
- Deficiency of triphosphoric monoester hydrolase
- Deficiency of tropinesterase
- Deficiency of trypsin
- Deficiency of tryptophan 5-hydroxylase
- Deficiency of tryptophan decarboxylase
- Deficiency of tryptophan pyrrolase
- Deficiency of tryptophanyl-tRNA synthetase
- Deficiency of tyrosine decarboxylase
- Deficiency of tyrosyl-tRNA synthetase
- Deficiency of ubiquinone reductase
- Deficiency of UDPglucose dehydrogenase
- Deficiency of unsaturated acyl-CoA hydratase
- Deficiency of unsaturated acyl-CoA reductase
- Deficiency of uracil dehydrogenase
- Deficiency of urease
- Deficiency of uricase
- Deficiency of uronolactonase
- Deficiency of valyl-tRNA synthetase
- Deficiency of w-amidase
- Deficiency of xylanase
- Glutamate-cysteine ligase deficiency
- Homogentisicaciduria
- Myeloperoxidase deficiency syndrome
- Phosphoenolpyruvate carboxykinase (GTP) deficiency
- Porphobilinogen synthase deficiency
- Triose phosphate isomerase deficiency
Is a
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/129456006
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