Specific enzyme deficiency

Code	`129456006`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

7252860023-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency disorder

4920001Acetyl-CoA carboxylase deficiency disorder

44940001Adenosine deaminase deficiency disorder

15285008Adenylosuccinate lyase deficiency disorder

129645002Adult G6PD deficiency of leucocytes syndrome disorder

23501004Arginase deficiency disorder

41013004Argininosuccinate lyase deficiency disorder

24308003Cystathionine beta-synthase deficiency disorder

6885006Cystathionine gamma-lyase deficiency disorder

424224001Cytochrome p450 enzyme deficiency disorder

124138004Deficiency of (R)-20-hydroxysteroid dehydrogenase disorder

124146003Deficiency of (S)-2-hydroxy-acid oxidase disorder

444838008Deficiency of 2-methylbutyryl-CoA dehydrogenase disorder

870383008Deficiency of 24-hydroxylase disorder

124435007Deficiency of 3'-nucleotidase disorder

124122005Deficiency of 3-hydroxyacyl-CoA dehydrogenase disorder

124118000Deficiency of 3-hydroxybutyrate dehydrogenase disorder

124660002Deficiency of 3-hydroxybutyryl-CoA epimerase disorder

124119008Deficiency of 3-hydroxyisobutyrate dehydrogenase disorder

124427009Deficiency of 3-hydroxyisobutyryl CoA hydrolase disorder

124137009Deficiency of 3alpha-hydroxycholanate dehydrogenase disorder

124135001Deficiency of 3alpha-hydroxysteroid dehydrogenase disorder

124136000Deficiency of 3beta-hydroxysteroid dehydrogenase disorder

124614004Deficiency of 4-hydroxy-2-oxoglutarate aldolase disorder

124434006Deficiency of 5'-nucleotidase disorder

124526003Deficiency of ADP deaminase disorder

1370973000Deficiency of ALG14 UDP-N-acetylglucosamine transferase disorder

124525004Deficiency of AMP deaminase disorder

124478002Deficiency of AMP nucleosidase disorder

124152002Deficiency of D-2-hydroxy-acid dehydrogenase disorder

124172007Deficiency of D-amino-acid oxidase disorder

124170004Deficiency of D-aspartate oxidase disorder

124116001Deficiency of D-lactate dehydrogenase disorder

124714006Deficiency of GMP synthase (glutamine-hydrolysing) disorder

124528002Deficiency of IMP cyclohydrolase disorder

124140009Deficiency of IMP dehydrogenase disorder

124171000Deficiency of L-amino-acid oxidase disorder

124131005Deficiency of L-arabinose dehydrogenase disorder

124130006Deficiency of L-gulonate dehydrogenase disorder

124115002Deficiency of L-lactate dehydrogenase disorder

124141008Deficiency of L-lactate dehydrogenase (cytochrome) disorder

124619009Deficiency of L-serine ammonia-lyase disorder

124469008Deficiency of N-acetyl-beta-glucosaminidase disorder

124610008Deficiency of N-acetylneuraminate lyase disorder

124182008Deficiency of N-methyl-L-amino-acid oxidase disorder

124192000Deficiency of NAD(P)H dehydrogenase (quinone) disorder

124480008Deficiency of NAD(P)^+^ nucleosidase disorder

124183003Deficiency of NAD(P)^+^ transhydrogenase disorder

124189004Deficiency of NADH dehydrogenase (ubiquinon) disorder

124185005Deficiency of NADPH-ferrihaemoprotein reductase disorder

360887005Deficiency of NAD^+^ nucleosidase disorder

124713000Deficiency of NAD^+^ synthase (glutamine-hydrolysing) disorder

360892007Deficiency of NADase disorder

124186006Deficiency of NAPH cytochrome-c>2< reductase disorder

124110007Deficiency of UDPglucose dehydrogenase disorder

360994007Deficiency of Xaa-Pro dipeptidase disorder

124698002Deficiency of acetate-CoA ligase disorder

124123000Deficiency of acetoacetyl-CoA reductase disorder

360721004Deficiency of acetyl-CoA acylase disorder

360709003Deficiency of acetyl-CoA deacylase disorder

360733009Deficiency of acetyl-CoA hydrolase disorder

360586005Deficiency of acetylcholinesterase disorder

371316005Deficiency of acetylesterase disorder

124723009Deficiency of acid-aminoacid ligase disorder

124721006Deficiency of acid-ammonia ligase disorder

124617006Deficiency of aconitate hydratase disorder

124533003Deficiency of acylphosphatase disorder

124521008Deficiency of adenine deaminase disorder

124531001Deficiency of adenosinetriphosphatase disorder

124168008Deficiency of alanine dehydrogenase disorder

124694000Deficiency of alanine-tRNA ligase disorder

124155000Deficiency of aldehyde dehydrogenase (NAD^+^) disorder

124161002Deficiency of aldehyde oxidase disorder

124109002Deficiency of aldehyde reductase disorder

124640005Deficiency of aldehyde-lyase disorder

360686003Deficiency of aldonolactonase disorder

124663000Deficiency of aldose 1-epimerase disorder

360792001Deficiency of alkaline phosphatase disorder

360781002Deficiency of alkaline phosphomonoesterase disorder

361089004Deficiency of alkylhalidase disorder

124519003Deficiency of allantoicase disorder

124517001Deficiency of allantoinase disorder

361058003Deficiency of alpha- and beta-trypsin disorder

124452006Deficiency of alpha-amylase disorder

124464003Deficiency of alpha-galactosidase disorder

124462004Deficiency of alpha-glucosidase disorder

124466001Deficiency of alpha-mannosidase disorder

124509009Deficiency of amidase disorder

124392007Deficiency of amidinotransferase disorder

361093005Deficiency of amine oxidase disorder

124175009Deficiency of amine oxidase (copper-containing) disorder

709282004Deficiency of aminoacylase 1 disorder

124384003Deficiency of aminoacyltransferase disorder

360932008Deficiency of aminopeptidase disorder

124394008Deficiency of aminotransferase disorder

124650006Deficiency of ammonia-lyase disorder

302250008Deficiency of amylase disorder

124472001Deficiency of amylo-1,6-glucosidase disorder

272064009Deficiency of amylopectin 6-glucanohydrolase disorder

124520009Deficiency of arginine deiminase disorder

124711003Deficiency of argininosuccinate synthase disorder

124409006Deficiency of arylesterase disorder

360834005Deficiency of arylsulphatase disorder

361087002Deficiency of asparaginase disorder

124595008Deficiency of aspartate 4-decarboxylase disorder

124248008Deficiency of aspartate carbamoyltransferase disorder

124589007Deficiency of aspartic proteinase disorder

1370890005Deficiency of aspartylglucosaminidase disorder

124191007Deficiency of azobenzene reductase disorder

124156004Deficiency of benzaldehyde dehydrogenase (NADP^+^) disorder

124453001Deficiency of beta-amylase disorder

124467005Deficiency of beta-fructofuranosidase disorder

124465002Deficiency of beta-galactosidase disorder

124463009Deficiency of beta-glucosidase disorder

124470009Deficiency of beta-glucuronidase disorder

124511000Deficiency of beta-ureidopropionase disorder

124157008Deficiency of betaine-aldehyde dehydrogenase disorder

124678007Deficiency of bisphosphoglycerate mutase disorder

124440004Deficiency of bisphosphoglycerate phosphatase disorder

124166007Deficiency of butyryl-CoA dehydrogenase disorder

360619001Deficiency of butyrylcholinesterase disorder

124636001Deficiency of carbon-carbon lyase disorder

124654002Deficiency of carbon-halide lyase disorder

124648003Deficiency of carbon-nitrogen lyase disorder

124644001Deficiency of carbon-oxygen lyase disorder

124652003Deficiency of carbon-sulphur lyase disorder

124615003Deficiency of carbonate dehydratase disorder

124638000Deficiency of carboxy-lyase disorder

124408003Deficiency of carboxylesterase disorder

124541003Deficiency of carboxylic ester hydrolase disorder

124492008Deficiency of carboxypeptidase A disorder

124493003Deficiency of carboxypeptidase B disorder

360943000Deficiency of carnosinase disorder

124202004Deficiency of catalase disorder

124200007Deficiency of catechol oxidase disorder

361017005Deficiency of cathepsin C disorder

720831008Deficiency of cathepsin D disorder

124455008Deficiency of cellulase disorder

124419000Deficiency of chlorophyllase disorder

124703008Deficiency of cholate-CoA ligase disorder

124418008Deficiency of cholesterol esterase disorder

124145004Deficiency of cholesterol oxidase disorder

124148002Deficiency of choline dehydrogenase disorder

360631004Deficiency of choline esterase II (unspecific) disorder

124503005Deficiency of chymosin disorder

361051009Deficiency of chymotrypsin disorder

361043006Deficiency of chymotrypsin A and B disorder

124613005Deficiency of citrate(si)-synthase disorder

124404001Deficiency of coenzyme-A transferase disorder

124209008Deficiency of cysteamine dioxygenase disorder

124581005Deficiency of cysteine carboxypeptidase disorder

124587009Deficiency of cysteine proteinase disorder

124486002Deficiency of cysteinyl-glycine dipeptidase disorder

124187002Deficiency of cystine reductase (NADH) disorder

124524000Deficiency of cytidine deaminase disorder

124184009Deficiency of cytochrome-b>5< reductase disorder

124201006Deficiency of cytochrome-c peroxidase disorder

360959000Deficiency of cytosol non-specific dipeptidase disorder

124226002Deficiency of dehydrogenase disorder

124151009Deficiency of dehydrogluconate dehydrogenase disorder

124450003Deficiency of deoxyribonuclease I disorder

124451004Deficiency of deoxyribonuclease II disorder

124458005Deficiency of dextranase disorder

124178006Deficiency of dihydrofolate reductase disorder

124516005Deficiency of dihydroorotase disorder

124163004Deficiency of dihydrouracil dehydrogenase (NAD^+^) disorder

124538007Deficiency of diisopropyl-fluorophosphatase disorder

124281009Deficiency of dimethylallyltranstransferase disorder

719449007Deficiency of dimethylglycine dehydrogenase disorder

124234008Deficiency of dioxygenase disorder

124489009Deficiency of dipeptidase disorder

124567008Deficiency of dipeptide hydrolase disorder

124569006Deficiency of dipeptidylpeptide hydrolase disorder

124604008Deficiency of diphosphomevalonate decarboxylase disorder

124553004Deficiency of diphosphoric monoester hydrolase disorder

124456009Deficiency of endo-1,3(4)-beta-glucanase disorder

303096003Deficiency of endopeptidase disorder

124577005Deficiency of endoribonuclease disorder

124618001Deficiency of enolase disorder

124621004Deficiency of enoyl-CoA hydratase disorder

124498007Deficiency of enteropeptidase disorder

124682009Deficiency of epimerase disorder

124561009Deficiency of ether hydrolase disorder

124575002Deficiency of exoribonuclease disorder

124224004Deficiency of ferroxidase disorder

124159006Deficiency of formaldehyde dehydrogenase disorder

124514008Deficiency of formamidase disorder

124154001Deficiency of formate dehydrogenase disorder

124710002Deficiency of formate-tetrahydrofolate ligase disorder

124629002Deficiency of formiminotetrahydrofolate cyclodeaminase disorder

124512007Deficiency of formyltetrahydrofolate deformylase disorder

124439001Deficiency of fructose-bisphosphatase disorder

124608006Deficiency of fructose-bisphosphate aldolase disorder

124536006Deficiency of fumarylacetoacetase disorder

124164005Deficiency of galactonolactone dehydrogenase disorder

124133008Deficiency of galactose dehydrogenase disorder

124206001Deficiency of gentisate 1,2-dioxygenase disorder

124476003Deficiency of glucan 1,3-alpha-glucosidase disorder

124454007Deficiency of glucan 1,4-alpha-glucosidase disorder

124150005Deficiency of gluconate 2-dehydrogenase disorder

360697003Deficiency of gluconolactonase disorder

124670000Deficiency of glucosamine-6-phosphate isomerase disorder

124132003Deficiency of glucose dehydrogenase disorder

124143006Deficiency of glucose oxidase disorder

124438009Deficiency of glucose-1-phosphatase disorder

124437004Deficiency of glucose-6-phosphatase disorder

124134002Deficiency of glucose-6-phosphate dehydrogenase disorder

124669001Deficiency of glucose-6-phosphate isomerase disorder

712641002Deficiency of glucosyltransferase 1 disorder

124596009Deficiency of glutamate decarboxylase disorder

124169000Deficiency of glutamate dehydrogenase disorder

124704002Deficiency of glutamate-ammonia ligase disorder

124507006Deficiency of glutaminase disorder

124702003Deficiency of glutarate-CoA ligase disorder

124188007Deficiency of glutathione reductase (NAD(P)H) disorder

124706000Deficiency of glutathione synthase disorder

124430002Deficiency of glutathione thiolesterase disorder

124197006Deficiency of glutathione-homocystine transhydrogenase disorder

124158003Deficiency of glyceraldehyde-3-phosphate dehydrogenase disorder

360771001Deficiency of glycerophosphatase disorder

124444008Deficiency of glycerophosphocholine phosphodiesterase disorder

302661005Deficiency of glycosidase disorder

124448006Deficiency of glycosulphatase disorder

124386001Deficiency of glycosyltransferase disorder

124522001Deficiency of guanine deaminase disorder

124626009Deficiency of heparin lyase disorder

124144000Deficiency of hexose oxidase disorder

124388000Deficiency of hexosyltransferase disorder

124628005Deficiency of histidine ammonia-lyase disorder

124598005Deficiency of histidine decarboxylase disorder

124111006Deficiency of histidinol dehydrogenase disorder

124633009Deficiency of homocysteine desulphydrase disorder

124625008Deficiency of hyaluronate lyase disorder

124473006Deficiency of hyaluronoglucosaminidase disorder

124407008Deficiency of hydrolase disorder

124646004Deficiency of hydrolyase disorder

124429007Deficiency of hydroxyacylglutathione hydrolase disorder

124428004Deficiency of hydroxymethylglutaryl-CoA hydrolase disorder

124121003Deficiency of hydroxymethylglutaryl-CoA reductase (NADPH) disorder

124612000Deficiency of hydroxymethylglutaryl-CoA synthase disorder

124529005Deficiency of inorganic pyrophosphatase disorder

360878001Deficiency of inosine nucleosidase disorder

124204003Deficiency of iodide peroxidase disorder

445274004Deficiency of isobutyryl-CoA dehydrogenase disorder

124127004Deficiency of isocitrate dehydrogenase (NAD^+^) disorder

124609003Deficiency of isocitrate lyase disorder

124692001Deficiency of isoleucine-tRNA ligase disorder

360854006Deficiency of isomaltase disorder

124657009Deficiency of isomerase disorder

124673003Deficiency of isopentenyl-diphosphate delta-isomerase disorder

124605009Deficiency of ketotetrose-phosphate aldolase disorder

124212006Deficiency of kynurenine 3-monooxygenase disorder

124659007Deficiency of lactate racemase disorder

360675000Deficiency of lactonase disorder

124634003Deficiency of lactoylglutathione lyase disorder

360902000Deficiency of leucine aminopeptidase disorder

124691008Deficiency of leucine-tRNA ligase disorder

717185008Deficiency of leukotriene C4 synthase disorder

124475004Deficiency of lichenase disorder

124687003Deficiency of ligase disorder

272938000Deficiency of limit dextrinase disorder

124699005Deficiency of long-chain-fatty-acid-CoA ligase disorder

124592006Deficiency of lyase disorder

124658004Deficiency of lysine racemase disorder

124693006Deficiency of lysine-tRNA ligase disorder

124674009Deficiency of lysolecithin acylmutase disorder

124412009Deficiency of lysophospholipase disorder

124505003Deficiency of lysostaphin disorder

124460007Deficiency of lysozyme disorder

124124006Deficiency of malate dehydrogenase disorder

124126008Deficiency of malate dehydrogenase (decarboxylating) disorder

124125007Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating) disorder

1371005001Deficiency of malate dehydrogenase (quinone) disorder

124664006Deficiency of maleylacetoacetate isomerase disorder

124594007Deficiency of malonyl-CoA decarboxylase disorder

124139007Deficiency of mannitol dehydrogenase disorder

124668009Deficiency of mannose-6-phosphate isomerase disorder

124579008Deficiency of metallocarboxypeptidase disorder

124591004Deficiency of metalloproteinase disorder

124527007Deficiency of methenyltetrahydrofolate cyclohydrolase disorder

124283007Deficiency of methionine adenosyltransferase disorder

124696003Deficiency of methionine-tRNA ligase disorder

124679004Deficiency of methylaspartate mutase disorder

124179003Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^) disorder

124622006Deficiency of methylglutaconyl-CoA hydratase disorder

1293018007Deficiency of methylmalonyl-coenzyme A epimerase disorder

124370008Deficiency of methyltransferase disorder

124120002Deficiency of mevaldate reductase disorder

735422006Deficiency of mitochondrial aspartyl-tRNA synthetase disorder

361094004Deficiency of monoamine oxidase disorder

124190008Deficiency of monodehydroascorbate reductase (NADH) disorder

124232007Deficiency of monooxygenase disorder

124211004Deficiency of myo-inositol oxygenase disorder

124180000Deficiency of nicotinate dehydrogenase disorder

124557003Deficiency of nucleosidase disorder

124532008Deficiency of nucleoside-diphosphatase disorder

124443002Deficiency of nucleotidase disorder

124535005Deficiency of nucleotide pyrophosphatase disorder

124406004Deficiency of nucleotidyltransferase disorder

124222000Deficiency of oestradiol 6beta-monooxygenase disorder

124583008Deficiency of omega peptidase disorder

124228001Deficiency of oxidase disorder

124296008Deficiency of oximinotransferase disorder

124642002Deficiency of oxo-acid-lyase disorder

124162009Deficiency of oxoglutarate dehydrogenase (lipoamide) disorder

124230004Deficiency of oxygenase disorder

360757009Deficiency of palmitoyl-CoA hydrolase disorder

124499004Deficiency of pancreatic elastase disorder

124602007Deficiency of pantothenoylcysteine decarboxylase disorder

124390004Deficiency of pentosyltransferase disorder

124501007Deficiency of pepsin A disorder

124502000Deficiency of pepsin B disorder

124563007Deficiency of peptide hydrolase disorder

124203009Deficiency of peroxidase disorder

124215008Deficiency of phenylalanine 4-monooxygenase disorder

124671001Deficiency of phenylpyruvate tautomerase disorder

361090008Deficiency of phosphatase disorder

124433000Deficiency of phosphatidate phosphatase disorder

124677002Deficiency of phosphoacetylglucosamine mutase disorder

124436008Deficiency of phosphoadenylate 3'-nucleotidase disorder

124539004Deficiency of phosphoamidase disorder

124676006Deficiency of phosphoglucomutase disorder

124128009Deficiency of phosphogluconate dehydrogenase disorder

124129001Deficiency of phosphogluconate dehydrogenase (decarboxylating) disorder

124675005Deficiency of phosphoglycerate mutase disorder

124607001Deficiency of phosphoketolase disorder

124411002Deficiency of phospholipase A>2< disorder

124445009Deficiency of phospholipase C disorder

360812008Deficiency of phospholipase D disorder

712640001Deficiency of phosphomannomutase 2 disorder

124707009Deficiency of phosphopantothenate-cysteine ligase disorder

124441000Deficiency of phosphoprotein phosphatase disorder

124712005Deficiency of phosphoribosylamine-glycine ligase disorder

124597000Deficiency of phosphoribosylaminoimidazole carboxylase disorder

124708004Deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase disorder

124709007Deficiency of phosphoribosylformylglycinamidine cyclo-ligase disorder

124715007Deficiency of phosphoribosylformylglycinamidine synthase disorder

124547004Deficiency of phosphoric diester hydrolase disorder

361091007Deficiency of phosphoric monoester hydrolase disorder

124656000Deficiency of phosphorus-oxygen lyase disorder

124442007Deficiency of phosphorylase phosphatase disorder

124432005Deficiency of phosphoserine phosphatase disorder

124396005Deficiency of phosphotransferase disorder

124497002Deficiency of plasmin disorder

124459002Deficiency of polygalacturonase disorder

124223005Deficiency of progesterone 11alpha-monooxygenase disorder

124718009Deficiency of propionyl-CoA carboxylase disorder

302736004Deficiency of protease disorder

124205002Deficiency of protocatechuate 3,4-dioxygenase disorder

124174008Deficiency of pyridoxamine-phosphate oxidase disorder

124398006Deficiency of pyrophosphotransferase disorder

124176005Deficiency of pyrroline-2-carboxylate reductase disorder

124177001Deficiency of pyrroline-5-carboxylate reductase disorder

124593001Deficiency of pyruvate decarboxylase disorder

124112004Deficiency of quinate dehydrogenase disorder

124684005Deficiency of racemase disorder

124236005Deficiency of reductase disorder

124504004Deficiency of renin disorder

124665007Deficiency of retinal isomerase disorder

124573009Deficiency of ribonuclease disorder

124667004Deficiency of ribose-5-phosphate isomerase disorder

361082008Deficiency of ribosomal cathepsin disorder

361075009Deficiency of ribosomal neutral proteinase disorder

124661003Deficiency of ribulose-phosphate 3-epimerase disorder

124181001Deficiency of sarcosine oxidase disorder

124491001Deficiency of serine carboxypeptidase disorder

124585001Deficiency of serine proteinase disorder

124697007Deficiency of serine-tRNA ligase disorder

124113009Deficiency of shikimate dehydrogenase disorder

124461006Deficiency of sialidase disorder

124219002Deficiency of squalene monooxygenase disorder

124214007Deficiency of steroid 11-beta-monooxygenase disorder

124220008Deficiency of steroid 17-alpha-monooxygenase disorder

124221007Deficiency of steroid 21-monooxygenase disorder

124672008Deficiency of steroid delta-isomerase disorder

1296861002Deficiency of sterol carrier protein X disorder

124165006Deficiency of succinate dehydrogenase disorder

445275003Deficiency of succinate-CoA ligase disorder

124426000Deficiency of succinyl-CoA hydrolase disorder

124601000Deficiency of sulphinoalanine decarboxylase disorder

124198001Deficiency of sulphite reductase disorder

124402002Deficiency of sulphotransferase disorder

361092000Deficiency of sulphuric ester hydrolase disorder

124400005Deficiency of sulphurtransferase disorder

124422003Deficiency of tannase disorder

124282002Deficiency of thiamine pyridinylase disorder

124559000Deficiency of thioether hydrolase disorder

124543000Deficiency of thiolester hydrolase disorder

124606005Deficiency of threonine aldolase disorder

124620003Deficiency of threonine dehydratase disorder

124690009Deficiency of threonine-tRNA ligase disorder

124496006Deficiency of thrombin disorder

124382004Deficiency of transacylase disorder

124380007Deficiency of transcarbamoylase disorder

124378001Deficiency of transcarboxylase disorder

124237001Deficiency of transferase disorder

124376002Deficiency of transformiminase disorder

124374004Deficiency of transformylase disorder

124410001Deficiency of triacylglycerol lipase disorder

124530000Deficiency of trimetaphosphatase disorder

124483005Deficiency of tripeptide aminopeptidase disorder

124549001Deficiency of triphosphoric monoester hydrolase disorder

124416007Deficiency of tropinesterase disorder

361066007Deficiency of trypsin disorder

124208000Deficiency of tryptophan 2,3-dioxygenase disorder

124216009Deficiency of tryptophan 5-monooxygenase disorder

124689000Deficiency of tryptophan-tRNA ligase disorder

124599002Deficiency of tyrosine decarboxylase disorder

124688008Deficiency of tyrosine-tRNA ligase disorder

124213001Deficiency of unspecific monooxygenase disorder

124153007Deficiency of uracil dehydrogenase disorder

124510004Deficiency of urease disorder

124421005Deficiency of uronolactonase disorder

124695004Deficiency of valine-tRNA ligase disorder

124508001Deficiency of w-amidase disorder

124147007Deficiency of xanthine oxidase disorder

124471008Deficiency of xylan endo-1,3-beta-xylosidase disorder

237983002Fumarate hydratase deficiency disorder

8849004Galactose epimerase deficiency disorder

36799008Glutamate-cysteine ligase deficiency disorder

360378009Homogentisate 1,2-dioxygenase deficiency disorder

699869003Interleukin-1 receptor-associated kinase 4 deficiency disorder

1293015005Methylmalonate semialdehyde dehydrogenase deficiency disorder

1172966001Multiple carboxylase deficiency disorder

129644003Myeloperoxidase deficiency syndrome disorder

5335002Phosphoenolpyruvate carboxykinase (GTP) deficiency disorder

64081000Porphobilinogen synthase deficiency disorder

724040000S-adenosylhomocysteine hydrolase deficiency disorder

84193000Trehalase deficiency disorder

234405009Triose phosphate isomerase deficiency disorder

Parents (1)

Children (430)