disease
 |__disease of metabolism__
 |__genetic disease________|
                           inherited metabolic disorder  1849 rec.
                            |__aceruloplasminemia 4 rec.
                            |__amino acid metabolic disorder 232 rec.
                            |   |__2-aminoadipic 2-oxoadipic aciduria 1 rec.
                            |   |__2-hydroxyglutaric aciduria(+) 15 rec.
                            |   |__3-hydroxy-3-methylglutaryl-CoA lyase deficiency 1 rec.
                            |   |__3-hydroxyisobutryl-CoA hydrolase deficiency 2 rec.
                            |   |__3-methylcrotonyl-CoA carboxylase deficiency(+) 3 rec.
                            |   |__adenylosuccinase lyase deficiency 1 rec.
                            |   |__alkaptonuria 2 rec.
                            |   |__argininosuccinic aciduria 2 rec.
                            |   |__beta-ketothiolase deficiency 1 rec.
                            |   |__branched-chain keto acid dehydrogenase kinase deficiency 1 rec.
                            |   |__Brunner Syndrome 1 rec.
                            |   |__cerebral creatine deficiency syndrome(+) 8 rec.
                            |   |__congenital glutamine deficiency 2 rec.
                            |   |__congenital nonspherocytic hemolytic anemia 7 1 rec.
                            |   |__cystathioninuria 1 rec.
                            |   |__cystinuria 11 rec.
                            |   |__developmental and epileptic encephalopathy 116 2 rec.
                            |   |__dicarboxylic aminoaciduria 1 rec.
                            |   |__dimethylglycine dehydrogenase deficiency 2 rec.
                            |   |__diphthamide deficiency syndrome(+) 3 rec.
                            |   |__familial hypertryptophanemia 1 rec.
                            |   |__fumarase deficiency 4 rec.
                            |   |__gamma-amino butyric acid metabolism disorder(+) 2 rec.
                            |   |__gamma-glutamyl transpeptidase deficiency 4 rec.
                            |   |__glutathione synthetase deficiency(+) 2 rec.
                            |   |__glycine encephalopathy(+) 3 rec.
                            |   |__Hartnup disease 2 rec.
                            |   |__hawkinsinuria 1 rec.
                            |   |__histidine metabolism disease(+)
                            |   |__HMG-CoA synthase 2 deficiency 1 rec.
                            |   |__homocystinuria 8 rec.
                            |   |__homocystinuria-megaloblastic anemia cblE type 1 rec.
                            |   |__homocystinuria-megaloblastic anemia cblG type 2 rec.
                            |   |__hydroxykynureninuria
                            |   |__hyperhomocysteinemia
                            |   |__hyperlysinemia 1 rec.
                            |   |__hypermethioninemia(+) 5 rec.
                            |   |__hyperprolinemia(+) 7 rec.
                            |   |__hypervalinemia and hyperleucine-isoleucinemia 2 rec.
                            |   |__leucine-sensitive hypoglycemia of infancy 11 rec.
                            |   |__lysinuric protein intolerance 2 rec.
                            |   |__mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 5 rec.
                            |   |__multiple carboxylase deficiency(+) 5 rec.
                            |   |__neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 1 rec.
                            |   |__neurodevelopmental disorder with spastic paraplegia and microcephaly 1 rec.
                            |   |__organic acidemia(+) 48 rec.
                            |   |__ornithine translocase deficiency 2 rec.
                            |   |__oxoglutarate dehydrogenase deficiency 13 rec.
                            |   |__pentosuria 1 rec.
                            |   |__phenylketonuria 2 rec.
                            |   |__prolidase deficiency 1 rec.
                            |   |__sarcosinemia 1 rec.
                            |   |__serine deficiency(+) 4 rec.
                            |   |__systemic primary carnitine deficiency disease 4 rec.
                            |   |__tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia(+) 4 rec.
                            |   |__tyrosinemia(+) 4 rec.
                            |   |__urea cycle disorder(+) 6 rec.
                            |__aromatic L-amino acid decarboxylase deficiency 4 rec.
                            |__bilirubin metabolic disorder 25 rec.
                            |   |__Crigler-Najjar syndrome 24 rec.
                            |   |__Dubin-Johnson syndrome 1 rec.
                            |   |__Gilbert syndrome 24 rec.
                            |__carbohydrate metabolic disorder 471 rec.
                            |   |__congenital disorder of deglycosylation(+) 34 rec.
                            |   |__congenital disorder of glycosylation(+) 91 rec.
                            |   |__congenital lactase deficiency 1 rec.
                            |   |__congenital sucrase-isomaltase deficiency 1 rec.
                            |   |__essential fructosuria 4 rec.
                            |   |__fructose-1,6-bisphosphatase deficiency 1 rec.
                            |   |__galactosemia(+) 32 rec.
                            |   |__glucose metabolism disease(+) 272 rec.
                            |   |__glucosephosphate dehydrogenase deficiency(+)
                            |   |__glycogen metabolism disorder(+) 15 rec.
                            |   |__hereditary fructose intolerance syndrome 1 rec.
                            |   |__intestinal disaccharidase deficiency
                            |   |__lactose intolerance 1 rec.
                            |   |__multiple carboxylase deficiency(+) 5 rec.
                            |   |__primary hyperoxaluria(+) 8 rec.
                            |   |__pyruvate carboxylase deficiency disease 1 rec.
                            |   |__pyruvate decarboxylase deficiency 7 rec.
                            |__cerebral amyloid angiopathy 11 rec.
                            |   |__APP-related cerebral amyloid angiopathy 2 rec.
                            |   |__CST3-related cerebral amyloid angiopathy 3 rec.
                            |   |__ITM2B-related cerebral amyloid angiopathy 1 3 rec.
                            |   |__ITM2B-related cerebral amyloid angiopathy 2 3 rec.
                            |__D-glyceric aciduria 1 rec.
                            |__dopamine beta-hydroxylase deficiency 1 rec.
                            |__familial hypocalciuric hypercalcemia 2 rec.
                            |   |__familial hypocalciuric hypercalcemia 1
                            |   |__familial hypocalciuric hypercalcemia 2 1 rec.
                            |   |__familial hypocalciuric hypercalcemia 3 1 rec.
                            |__familial visceral amyloidosis 4 rec.
                            |__glycerol kinase deficiency 6 rec.
                            |__Gordon Holmes syndrome 5 rec.
                            |__Greenberg dysplasia 1 rec.
                            |__HRPT-related hyperuricemia
                            |__hyperphosphatemic familial tumoral calcinosis 2 rec.
                            |__immunoglobulin light chain amyloidosis
                            |__infantile hypercalcemia 1 11 rec.
                            |__infantile hypercalcemia 2
                            |__isolated elevated serum creatine phosphokinase levels
                            |__isolated sulfite oxidase deficiency 3 rec.
                            |__lipid metabolism disorder 108 rec.
                            |   |__carnitine palmitoyltransferase I deficiency 1 rec.
                            |   |__carnitine palmitoyltransferase II deficiency 1 rec.
                            |   |__carnitine-acylcarnitine translocase deficiency 2 rec.
                            |   |__cholesterol-ester transfer protein deficiency(+)
                            |   |__chylomicron retention disease 1 rec.
                            |   |__CK syndrome 1 rec.
                            |   |__desmosterolosis
                            |   |__familial hyperlipidemia(+) 21 rec.
                            |   |__hypolipoproteinemia(+) 12 rec.
                            |   |__lipoid proteinosis
                            |   |__long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 rec.
                            |   |__medium chain acyl-CoA dehydrogenase deficiency 4 rec.
                            |   |__MEND syndrome
                            |   |__mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 5 rec.
                            |   |__mitochondrial trifunctional protein deficiency(+) 7 rec.
                            |   |__multiple congenital anomalies-hypotonia-seizures syndrome(+) 15 rec.
                            |   |__Refsum disease
                            |   |__short chain acyl-CoA dehydrogenase deficiency 2 rec.
                            |   |__Smith-Lemli-Opitz syndrome 1 rec.
                            |   |__steroid inherited metabolic disorder(+) 29 rec.
                            |   |__very long chain acyl-CoA dehydrogenase deficiency 2 rec.
                            |__lysosomal storage disease 290 rec.
                            |   |__alpha-mannosidosis 6 rec.
                            |   |__aspartylglucosaminuria 3 rec.
                            |   |__beta-mannosidosis 1 rec.
                            |   |__cystinosis 1 rec.
                            |   |__Danon disease 1 rec.
                            |   |__fucosidosis 1 rec.
                            |   |__galactosialidosis
                            |   |__lipid storage disease(+) 215 rec.
                            |   |__mucopolysaccharidosis(+) 47 rec.
                            |   |__Schindler disease(+) 2 rec.
                            |   |__sialuria 20 rec.
                            |__metal metabolism disorder 64 rec.
                            |   |__acrodermatitis enteropathica 1 rec.
                            |   |__atransferrinemia 2 rec.
                            |   |__autosomal dominant hypocalcemia(+) 1 rec.
                            |   |__familial periodic paralysis(+) 2 rec.
                            |   |__hemochromatosis(+) 4 rec.
                            |   |__hypermanganesemia with dystonia(+) 2 rec.
                            |   |__Menkes disease 15 rec.
                            |   |__molybdenum cofactor deficiency(+) 4 rec.
                            |   |__occipital horn syndrome 2 rec.
                            |   |__primary hypomagnesemia(+) 4 rec.
                            |   |__pseudohypoparathyroidism(+) 3 rec.
                            |   |__Wilson disease 4 rec.
                            |__mitochondrial metabolism disease 490 rec.
                            |   |__adult-onset ataxia and polyneuropathy
                            |   |__coenzyme Q10 deficiency disease(+) 30 rec.
                            |   |__combined oxidative phosphorylation deficiency(+) 87 rec.
                            |   |__cytochrome-c oxidase deficiency disease(+) 88 rec.
                            |   |__deafness-dystonia-optic neuronopathy syndrome 1 rec.
                            |   |__ethylmalonic encephalopathy 2 rec.
                            |   |__GRACILE syndrome 1 rec.
                            |   |__mitochondrial complex I deficiency(+) 75 rec.
                            |   |__mitochondrial complex II deficiency 12 rec.
                            |   |__mitochondrial complex III deficiency(+) 17 rec.
                            |   |__mitochondrial complex V (ATP synthase) deficiency(+) 33 rec.
                            |   |__mitochondrial DNA depletion syndrome(+) 85 rec.
                            |   |__mitochondrial pyruvate carrier deficiency 5 rec.
                            |   |__mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 5 rec.
                            |   |__multiple mitochondrial dysfunctions syndrome(+) 7 rec.
                            |   |__NARP syndrome
                            |   |__neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 1 rec.
                            |   |__Pearson syndrome
                            |   |__sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2 rec.
                            |__multiple acyl-CoA dehydrogenase deficiency 8 rec.
                            |__peroxisomal disease 79 rec.
                            |   |__acatalasia 2 rec.
                            |   |__alpha-methylacyl-CoA racemase deficiency 1 rec.
                            |   |__D-bifunctional protein deficiency 1 rec.
                            |   |__glutaric acidemia type 3 1 rec.
                            |   |__infantile Refsum disease
                            |   |__mevalonic aciduria 1 rec.
                            |   |__Mitchell syndrome 12 rec.
                            |   |__peroxisomal acyl-CoA oxidase deficiency 5 rec.
                            |   |__peroxisomal biogenesis disorder(+) 56 rec.
                            |   |__retinal dystrophy with leukodystrophy 1 rec.
                            |__phosphoribosylpyrophosphate synthetase superactivity 1 rec.
                            |__plasma protein metabolism disease 9 rec.
                            |   |__alpha 1-antitrypsin deficiency 8 rec.
                            |   |__carboxypeptidase N deficiency 1 rec.
                            |   |__macroglobulinemia
                            |   |__monoclonal paraproteinemia
                            |   |__polyclonal hypergammaglobulinemia
                            |__poor metabolism of thiopurines
                            |   |__poor metabolism of thiopurines 1
                            |   |__poor metabolism of thiopurines 2
                            |__porphyria 27 rec.
                            |   |__acute porphyria(+) 7 rec.
                            |   |__cutaneous porphyria 2 rec.
                            |__primary cutaneous amyloidosis 2 rec.
                            |   |__Finnish type amyloidosis 2 rec.
                            |   |__primary localized cutaneous amyloidosis 1
                            |   |__primary localized cutaneous amyloidosis 2
                            |   |__primary localized cutaneous amyloidosis 3
                            |__purine-pyrimidine metabolic disorder 26 rec.
                            |   |__adenine phosphoribosyltransferase deficiency 1 rec.
                            |   |__dihydropyrimidine dehydrogenase deficiency 1 rec.
                            |   |__Lesch-Nyhan syndrome 5 rec.
                            |   |__xanthinuria(+) 19 rec.
                            |__pyrimidine metabolic disorder 3 rec.
                            |   |__dihydropyrimidinase deficiency 2 rec.
                            |   |__orotic aciduria 1 rec.
                            |__transthyretin amyloidosis 24 rec.
                            |__trimethylaminuria 2 rec.
                            |__variant ABeta2M amyloidosis
                            |__vitamin metabolic disorder 32 rec.
                            |   |__autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
                            |   |__cerebral folate receptor alpha deficiency
                            |   |__familial isolated deficiency of vitamin E 9 rec.
                            |   |__glutamate formiminotransferase deficiency
                            |   |__hereditary folate malabsorption 6 rec.
                            |   |__pyridoxamine 5'-phosphate oxidase deficiency 10 rec.
                            |   |__vitamin B12 deficiency(+) 1 rec.
                            |__warfarin resistance 3 rec.
                            |__warfarin sensitivity
                            |__X-linked warfarin sensitivity 1 rec.