SE-ATLAS

2-aminoadipic 2-oxoadipic aciduria 2p21 microdeletion syndrome 3-Phosphoglycerate dehydrogenase deficiency 3-phosphoserine phosphatase deficiency, infantile/juvenile form 5-oxoprolinase deficiency AICA-ribosiduria ATP13A2-related juvenile neuronal ceroid lipofuscinosis Acatalasemia Acid sphingomyelinase deficiency Acrodermatitis enteropathica Acute hepatic porphyria Acute intermittent porphyria Adenine phosphoribosyltransferase deficiency Adenosine monophosphate deaminase deficiency Adenylosuccinate lyase deficiency Adult Krabbe disease Adult neuronal ceroid lipofuscinosis Alkaptonuria Alpers-Huttenlocher syndrome Alpha-N-acetylgalactosaminidase deficiency Alpha-mannosidosis Argininemia Argininosuccinic aciduria Arthrogryposis-renal dysfunction-cholestasis syndrome Aspartylglucosaminuria Atypical Gaucher disease due to saposin C deficiency Atypical glycine encephalopathy Atypical hypotonia-cystinuria syndrome Autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal erythropoietic protoporphyria Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive cutis laxa type 2 Barth syndrome Benign recurrent intrahepatic cholestasis Beta-ketothiolase deficiency Beta-mannosidosis Beta-ureidopropionase deficiency Bile acid synthesis defect with cholestasis and malabsorption Bilirubin encephalopathy Blue diaper syndrome Brain dopamine-serotonin vesicular transport disease CAD-CDG CADDS Carbamoyl-phosphate synthetase 1 deficiency Cardiomyopathy-hypotonia-lactic acidosis syndrome Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Carnosinase deficiency Chronic diarrhea due to glucoamylase deficiency Chronic hepatic porphyria Chronic neurovisceral acid sphingomyelinase deficiency Chronic visceral acid sphingomyelinase deficiency Chédiak-Higashi syndrome Citrin deficiency Citrullinemia Citrullinemia type I Classic galactosemia Classic maple syrup urine disease Classic phenylketonuria Coenzyme Q10 deficiency Combined hyperlipidemia Combined pancreatic lipase-colipase deficiency Congenital bile acid synthesis defect type 4 Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital disorder of glycosylation Congenital erythropoietic porphyria Congenital glucokinase-related hyperinsulinism Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital neuronal ceroid lipofuscinosis Congenital sucrase-isomaltase deficiency Creatine deficiency syndrome Crigler-Najjar syndrome Cystinuria Cystinuria type A Cystinuria type B D-glyceric aciduria De Barsy syndrome Desmosterolosis Diamond-Blackfan anemia Dicarboxylic aminoaciduria Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dimethylglycine dehydrogenase deficiency Disorder of amino acid absorption and transport Disorder of amino acid and other organic acid metabolism Disorder of asparagine metabolism Disorder of beta and omega amino acid metabolism Disorder of bile acid synthesis Disorder of bilirubin metabolism and excretion Disorder of biogenic amine metabolism and transport Disorder of branched-chain amino acid metabolism Disorder of carbohydrate absorption and transport Disorder of carbohydrate metabolism Disorder of carnitine cycle and carnitine transport Disorder of catecholamine synthesis Disorder of cobalamin metabolism and transport Disorder of copper metabolism Disorder of energy metabolism Disorder of fatty acid oxidation and ketogenesis Disorder of fatty acid oxidation and ketone body metabolism Disorder of folate metabolism and transport Disorder of fructose metabolism Disorder of galactose metabolism Disorder of gamma-aminobutyric acid metabolism Disorder of glutamine metabolism Disorder of glycerol metabolism Disorder of glycolysis Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Disorder of glyoxylate metabolism Disorder of histidine metabolism Disorder of iron metabolism and transport Disorder of ketolysis Disorder of keton body transport Disorder of lipid absorption and transport Disorder of lipid metabolism Disorder of lysine and hydroxylysine metabolism Disorder of lysosomal amino acid transport Disorder of lysosomal-related organelles Disorder of magnesium transport Disorder of manganese transport Disorder of melanin metabolism Disorder of metabolite absorption and transport Disorder of methionine cycle and sulfur amino acid metabolism Disorder of mineral absorption and transport Disorder of multiple glycosylation Disorder of neurotransmitter metabolism and transport Disorder of neutral amino acid transport Disorder of ornithine metabolism Disorder of ornithine or proline metabolism Disorder of other vitamins and cofactors metabolism and transport Disorder of pentose phosphate metabolism Disorder of peptide metabolism Disorder of peroxisomal alpha-, beta- and omega-oxidation Disorder of phenylalanin or tyrosine metabolism Disorder of phenylalanine metabolism Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of plasmalogens biosynthesis Disorder of porphyrin and heme metabolism Disorder of proline metabolism Disorder of protein N-glycosylation Disorder of protein O-glycosylation Disorder of pterin metabolism Disorder of purine metabolism Disorder of purine or pyrimidine metabolism Disorder of pyridoxine metabolism Disorder of pyrimidine metabolism Disorder of serine or glycine metabolism Disorder of sialic acid metabolism Disorder of the gamma-glutamyl cycle Disorder of thiamine metabolism and transport Disorder of tryptophan metabolism Disorder of tyrosine metabolism Disorder of urea cycle metabolism and ammonia detoxification Disorder of vitamin and non-protein cofactor absorption and transport Disorder of zinc metabolism and transport Disorders of pentose/polyol metabolism Dubin-Johnson syndrome Dysbetalipoproteinemia EGF-related primary hypomagnesemia with intellectual disability Erythropoietic uroporphyria associated with myeloid malignancy Essential fructosuria Exercise-induced hyperinsulinism Familial chylomicronemia syndrome Familial juvenile hyperuricemic nephropathy type 1 Fanconi-Bickel syndrome Farber disease Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Fatal infantile lactic acidosis with methylmalonic aciduria Fetal Gaucher disease Folinic acid-responsive seizures Free sialic acid storage disease Fructose-1,6-bisphosphatase deficiency Fucosidosis Fumaric aciduria GM1 gangliosidosis GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM2 gangliosidosis GRACILE syndrome Galactokinase deficiency Galactose epimerase deficiency Galactose mutarotase deficiency Galactosemia Galactosialidosis Gamma-aminobutyric acid transaminase deficiency Gamma-glutamyl transpeptidase deficiency Gangliosidosis Gaucher disease Gaucher disease type 1 Gaucher disease type 2 Gaucher disease type 3 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Genetic primary hypomagnesemia Gluconeogenesis disorder Glucose transport disorder Glutamate-cysteine ligase deficiency Glutaric acidemia type 3 Glutathione synthetase deficiency Glycerol kinase deficiency Glycine encephalopathy Glycogen storage disease Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen synthase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Glycoproteinosis Greenberg dysplasia Guanidinoacetate methyltransferase deficiency Haim-Munk syndrome Hartnup disease Hawkinsinuria Heme oxygenase-1 deficiency Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to glucophosphate isomerase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hepatoerythropoietic porphyria Hereditary butyrylcholinesterase deficiency Hereditary coproporphyria Hereditary fructose intolerance Hereditary orotic aciduria Hereditary xanthinuria Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome due to AP-3 deficiency Hermansky-Pudlak syndrome due to BLOC-1 deficiency Hermansky-Pudlak syndrome due to BLOC-2 deficiency Hermansky-Pudlak syndrome due to BLOC-3 deficiency Hermansky-Pudlak syndrome type 8 Hermansky-Pudlak syndrome type 9 Histidinemia Histidinuria-renal tubular defect syndrome Homocarnosinosis Homocystinuria due to cystathionine beta-synthase deficiency Hyaluronidase deficiency Hydroxykynureninuria Hyper-beta-alaninemia Hyperalphalipoproteinemia Hyperammonemia due to N-acetylglutamate synthase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Hyperdibasic aminoaciduria type 1 Hyperinsulinism-hyperammonemia syndrome Hyperlysinemia Hypermethioninemia due to glycine N-methyltransferase deficiency Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Hyperprolinemia type 1 Hyperprolinemia type 2 Hypertryptophanemia Hyperzincemia and hypercalprotectinemia Hypoalphalipoproteinemia Hypobetalipoproteinemia Hypotonia-cystinuria syndrome Hypotonia-cystinuria type 1 syndrome Hypoxanthine-guanine phosphoribosyltransferase deficiency ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Idiopathic malabsorption due to bile acid synthesis defects Iminoglycinuria Infantile Krabbe disease Infantile Refsum disease Infantile glycine encephalopathy Infantile neuronal ceroid lipofuscinosis Infantile neurovisceral acid sphingomyelinase deficiency Intermediate maple syrup urine disease Intermittent maple syrup urine disease Isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated complex I deficiency Isolated complex III deficiency Isolated succinate-CoQ reductase deficiency Juvenile neuronal ceroid lipofuscinosis Kearns-Sayre syndrome Ketoacidosis due to monocarboxylate transporter-1 deficiency Krabbe disease L-Arginine:glycine amidinotransferase deficiency Late infantile neuronal ceroid lipofuscinosis Late-infantile/juvenile Krabbe disease Leber hereditary optic neuropathy Leber plus disease Leigh syndrome Leigh syndrome with cardiomyopathy Lethal ataxia with deafness and optic atrophy Lipid storage disease Lipoic acid biosynthesis defect Lysinuric protein intolerance Lysosomal acid lipase deficiency Lysosomal acid phosphatase deficiency Lysosomal disease Lysosomal glycogen storage disease MELAS MERRF Maple syrup urine disease Maternal phenylketonuria Metabolic disease due to other fatty acid oxidation disorder Metabolic disease involving other neurotransmitter deficiency Metachromatic leukodystrophy Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Mild hyperphenylalaninemia Mild phenylketonuria Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial disease Mitochondrial membrane transport disorder Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mucolipidosis Mucolipidosis type II Mucolipidosis type III Mucolipidosis type IV Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Multiple sulfatase deficiency NARP syndrome Neonatal epileptic encephalopathy due to glutaminase deficiency Neonatal glycine encephalopathy Neu-Laxova syndrome Neurometabolic disorder due to serine deficiency Neuronal ceroid lipofuscinosis Niemann-Pick disease type C Niemann-Pick disease type E Oculocerebrorenal syndrome of Lowe Oligosaccharidosis Organic aciduria Ornithine transcarbamylase deficiency Other metabolic disease Oxoglutaric aciduria PGM1-CDG Pancreatic colipase deficiency Pancreatic triacylglycerol lipase deficiency Papillon-Lefèvre syndrome Pearson syndrome Pentosuria Peroxisomal beta-oxidation disorder Peroxisomal disease Peroxisome biogenesis disorder Phenylketonuria Phosphoenolpyruvate carboxykinase deficiency Phosphoribosylpyrophosphate synthetase superactivity Phosphoserine aminotransferase deficiency, infantile/juvenile form Polyglucosan body myopathy type 1 Polyglucosan body myopathy type 2 Porphyria Porphyria cutanea tarda Porphyria due to ALA dehydratase deficiency Porphyria variegata Primary hyperoxaluria Primary hyperoxaluria type 1 Primary hyperoxaluria type 2 Primary hyperoxaluria type 3 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Primary hypomagnesemia with secondary hypocalcemia Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Primary hypomagnesemia-refractory seizures-intellectual disability syndrome Progressive epilepsy-intellectual disability syndrome, Finnish type Progressive familial intrahepatic cholestasis Prolidase deficiency Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Purine nucleoside phosphorylase deficiency Pycnodysostosis Pyruvate carboxylase deficiency Pyruvate dehydrogenase deficiency Pyruvate metabolism disorder Rare dyslipidemia Rare hereditary hemochromatosis Rare hypercholesterolemia Rare hyperlipidemia Rare hypolipidemia Rare inborn errors of metabolism Rare major hypertriglyceridemia Rare syndromic dyslipidemia Refsum disease Rotor syndrome Saccharopinuria Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile form Sarcosinemia Seizures-intellectual disability due to hydroxylysinuria syndrome Serine biosynthesis pathway deficiency, infantile/juvenile form Severe X-linked mitochondrial encephalomyopathy Severe combined immunodeficiency due to adenosine deaminase deficiency Severe primary trimethylaminuria Sialidosis Sialidosis type 1 Sialidosis type 2 Sialuria Spastic ataxia-dysarthria due to glutaminase deficiency Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Sphingolipidosis Sterol biosynthesis disorder Sterol metabolism disorder Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency Systemic primary carnitine deficiency TMEM70-related mitochondrial encephalo-cardio-myopathy Tay-Sachs disease Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Thiamine-responsive maple syrup urine disease Transient tyrosinemia of the newborn Trehalase deficiency Tricarboxylic acid cycle disorder Triose phosphate-isomerase deficiency Unspecified mitochondrial disorder Urocanic aciduria X-linked Charcot-Marie-Tooth disease type 5 X-linked creatine transporter deficiency X-linked erythropoietic protoporphyria X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked sideroblastic anemia Zellweger syndrome