SE-ATLAS

Alpha-1-antitrypsin deficiency Autosomal dominant myoglobinuria Autosomal recessive dopa-responsive dystonia Brachytelephalangic chondrodysplasia punctata Chronic visceral acid sphingomyelinase deficiency Citrullinemia Congenital disorder of glycosylation Creatine deficiency syndrome 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 biogenic amine metabolism and transport Disorder of branched-chain amino acid metabolism Disorder of carbohydrate absorption and transport Disorder of carbohydrate metabolism Disorder of energy metabolism Disorder of fatty acid oxidation and ketone body metabolism 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 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 metabolite absorption and transport Disorder of methionine cycle and sulfur amino acid metabolism Disorder of multiple glycosylation Disorder of neurotransmitter metabolism and transport Disorder of ornithine or proline metabolism Disorder of pentose phosphate metabolism Disorder of peptide metabolism Disorder of phenylalanin or tyrosine metabolism Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of porphyrin and heme metabolism Disorder of protein N-glycosylation Disorder of protein O-glycosylation Disorder of pterin metabolism Disorder of purine or pyrimidine metabolism Disorder of pyridoxine metabolism Disorder of serine or glycine metabolism Disorder of sialic acid metabolism Disorder of the gamma-glutamyl cycle Disorder of tryptophan metabolism Disorder of urea cycle metabolism and ammonia detoxification Fabry disease Galactosemia Gaucher disease Genetic recurrent myoglobinuria Gluconeogenesis disorder Glutaryl-CoA dehydrogenase deficiency Glycogen storage disease Glycogen storage disease due to glucose-6-phosphatase deficiency Glycoproteinosis Guanidinoacetate methyltransferase deficiency Hemolytic anemia due to diphosphoglycerate mutase deficiency Hypotonia-failure to thrive-microcephaly syndrome Infantile neurovisceral acid sphingomyelinase deficiency Krabbe disease Lesch-Nyhan syndrome Lipid storage disease Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Lysosomal acid phosphatase deficiency Lysosomal disease Lysosomal glycogen storage disease Medium chain acyl-CoA dehydrogenase deficiency Metabolic disease involving other neurotransmitter deficiency Mitochondrial disease Mucolipidosis Mucopolysaccharidosis Neuronal ceroid lipofuscinosis Niemann-Pick disease type C Niemann-Pick disease type E Oligosaccharidosis Organic aciduria Ornithine transcarbamylase deficiency Other metabolic disease Peroxisomal disease Phenylketonuria Propionic acidemia Pycnodysostosis Pyruvate metabolism disorder Rare dyslipidemia Rare hereditary hemochromatosis Rare inborn errors of metabolism Smith-Lemli-Opitz syndrome Sphingolipidosis Sterol metabolism disorder Tricarboxylic acid cycle disorder Wilson disease Zellweger syndrome