Deficiency of transferase

Code	`124237001`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

124269005Deficiency of 1,3-beta-glucan synthase disorder

124268002Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase disorder

124267007Deficiency of 1,4-alpha-glucan branching enzyme disorder

124290002Deficiency of 2,5-diaminovalerate aminotransferase disorder

124361005Deficiency of 3-mercaptopyruvate sulphurtransferase disorder

124366000Deficiency of 3-oxoacid CoA-transferase disorder

124367009Deficiency of 3-oxoadipate CoA-transferase disorder

124306003Deficiency of 6-phosphofructokinase disorder

124274002Deficiency of AMP pyrophorylase disorder

124357004Deficiency of DNA nucleotidylexotransferase disorder

124350002Deficiency of DNA-directed DNA polymerase disorder

124349002Deficiency of DNA-directed RNA polymerase disorder

124346009Deficiency of FMN adenylyltransferase disorder

124316006Deficiency of NAD^+^ kinase disorder

124354006Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase disorder

124352005Deficiency of UTP-glucose-1-phosphate uridylyltransferase disorder

398664009Deficiency of UTP-hexose-1-phosphate uridylyltransferase disorder

716716001Deficiency of Zeta-chain associated protein kinase 70 disorder

124333004Deficiency of acetate kinase disorder

124258007Deficiency of acetyl-CoA acetyltransferase disorder

124265004Deficiency of acetyl-CoA acyltransferase disorder

124241002Deficiency of acetylserotonin methyltransferase disorder

124314009Deficiency of adenosine kinase disorder

124340003Deficiency of adenylate kinase disorder

124318007Deficiency of adenylylsulphate kinase disorder

124285000Deficiency of alanine aminotransferase disorder

124291003Deficiency of alanine-oxo-acid aminotransferase disorder

124363008Deficiency of alcohol sulphotransferase disorder

124270006Deficiency of alpha-1,4-glucan-protein synthase (UDP-forming) disorder

124280005Deficiency of amidophosphoribosyltransferase disorder

124362003Deficiency of aryl sulphotransferase disorder

124255005Deficiency of arylamine acetyltransferase disorder

124293000Deficiency of asparagine-oxo-acid aminotransferase disorder

124284001Deficiency of aspartate aminotransferase disorder

124336007Deficiency of aspartate kinase disorder

124242009Deficiency of betaine-homocysteine methyltransferase disorder

124368004Deficiency of butyrate-acetoacetate CoA-transferase disorder

124334005Deficiency of carbamate kinase disorder

124257002Deficiency of carnitine acetyltransferase disorder

124256006Deficiency of choline acetyltransferase disorder

124324001Deficiency of choline kinase disorder

124356008Deficiency of choline-phosphate cytidylyltransferase disorder

124359001Deficiency of cholinephosphotransferase disorder

124338008Deficiency of creatine kinase disorder

124286004Deficiency of cysteine aminotransferase disorder

124308002Deficiency of dehydrogluconokinase disorder

124317002Deficiency of dephospho-CoA kinase disorder

124261008Deficiency of dihydrolipoamide acetyltransferase disorder

124320005Deficiency of erythritol kinase disorder

124355007Deficiency of ethanolamine-phosphate cytidylyltransferase disorder

124358009Deficiency of ethanolaminephosphotransferase disorder

124300009Deficiency of fructokinase disorder

124302001Deficiency of galactokinase disorder

124298009Deficiency of glucokinase disorder

124307007Deficiency of gluconokinase disorder

124253003Deficiency of glucosamine acetyltransferase disorder

124304000Deficiency of glucosamine kinase disorder

124254009Deficiency of glucosamine-phosphate acetyltransferase disorder

124332009Deficiency of glucose-1-phosphate phosphodismutase disorder

124263006Deficiency of glutamine phenylacetyltransferase disorder

124295007Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerising) disorder

124294006Deficiency of glutamine-pyruvate aminotransferase disorder

124323007Deficiency of glycerate kinase disorder

124322002Deficiency of glycerol kinase disorder

124264000Deficiency of glycerol-3-phosphate acyltransferase disorder

124262001Deficiency of glycine acyltransferase disorder

124250000Deficiency of glycine amidinotransferase disorder

124246007Deficiency of glycine formiminotransferase disorder

124243004Deficiency of glycine hydroxymethyltransferase disorder

124337003Deficiency of guanidinoacetate kinase disorder

124239003Deficiency of guanidinoacetate methyltransferase disorder

124297004Deficiency of hexokinase disorder

124330001Deficiency of homoserine kinase disorder

124259004Deficiency of hydrogen-sulphide acetyltransferase disorder

124275001Deficiency of hypoxanthine phosphoribosyltransferase disorder

124299001Deficiency of ketohexokinase disorder

124289006Deficiency of kynurenine-oxoglutarate aminotransferase disorder

124288003Deficiency of leucine aminotransferase disorder

124365001Deficiency of malonate CoA-transferase disorder

124266003Deficiency of maltose phosphorylase disorder

124303006Deficiency of mannokinase disorder

124327008Deficiency of mevalonate kinase disorder

124238006Deficiency of nicotinamide methyltransferase disorder

124279007Deficiency of nicotinamide phosphoribosyltransferase disorder

124345008Deficiency of nicotinamide-nucleotide adenylyltransferase disorder

124278004Deficiency of nicotinate phosphoribosyltransferase disorder

124342006Deficiency of nucleoside-diphosphate kinase disorder

124341004Deficiency of nucleoside-phosphate kinase disorder

124277009Deficiency of orotate phosphoribosyltransferase disorder

124364002Deficiency of oxalate CoA-transferase disorder

124325000Deficiency of pantetheine kinase disorder

124347000Deficiency of pantetheine-phosphate adenylyltransferase disorder

124305004Deficiency of phosphoglucokinase disorder

124335006Deficiency of phosphoglycerate kinase disorder

124339000Deficiency of phosphomevalonate kinase disorder

124313003Deficiency of phosphoribokinase disorder

124245006Deficiency of phosphoribosylaminoimidazolecarboxamide formyltransferase disorder

124244005Deficiency of phosphoribosylglycinamide formyltransferase disorder

124329006Deficiency of phosphorylase kinase disorder

124351003Deficiency of polyribonucleotide nucleotidyltransferase disorder

387814004Deficiency of protein kinase disorder

124326004Deficiency of pyridoxal kinase disorder

124331002Deficiency of pyruvate kinase disorder

124301008Deficiency of rhamnulokinase disorder

124319004Deficiency of riboflavin kinase disorder

124310000Deficiency of ribokinase disorder

124343001Deficiency of ribose-phosphate pyrophosphokinase disorder

124315005Deficiency of ribosylnicotinamide kinase disorder

124311001Deficiency of ribulokinase disorder

124309005Deficiency of sedoheptulokinase disorder

124348005Deficiency of sulphate adenylyltransferase (ADP) disorder

124240001Deficiency of thetin-homocysteine methyltransferase disorder

124344007Deficiency of thiamine pyrophosphokinase disorder

124260009Deficiency of thioethanolamine acetyltransferase disorder

124360006Deficiency of thiosulphate sulphurtransferase disorder

124273008Deficiency of thymidine phosphorylase disorder

124252008Deficiency of transaldolase disorder

124251001Deficiency of transketolase disorder

124321009Deficiency of triokinase disorder

124287008Deficiency of tyrosine aminotransferase disorder

124276000Deficiency of uracil phosphoribosyltransferase disorder

124272003Deficiency of uridine phosphorylase disorder

124312008Deficiency of xylulokinase disorder

276426004Ornithine aminotransferase deficiency disorder

1187535000Thymidine kinase 2 deficiency disorder

Parents (1)

Children (125)