SE-ATLAS

Acatalasemia Alpha-1-antitrypsin deficiency Autosomal dominant myoglobinuria Brachytelephalangic chondrodysplasia punctata CADDS Congenital bile acid synthesis defect type 4 Congenital disorder of glycosylation Creatine deficiency syndrome Cystic fibrosis 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 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 mineral absorption and transport Disorder of neurotransmitter metabolism and transport Disorder of ornithine or proline metabolism 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 phospholipids, sphingolipids and fatty acids biosynthesis Disorder of porphyrin and heme 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 tryptophan metabolism Disorder of urea cycle metabolism and ammonia detoxification Disorder of vitamin and non-protein cofactor absorption and transport Fabry disease Genetic recurrent myoglobinuria Gluconeogenesis disorder Glutaric acidemia type 3 Glycogen storage disease Glycoproteinosis Hemolytic anemia due to diphosphoglycerate mutase deficiency Hypotonia-failure to thrive-microcephaly syndrome Lipid storage disease Lysosomal acid phosphatase deficiency Lysosomal disease Lysosomal glycogen storage disease Metabolic disease involving other neurotransmitter deficiency Mitochondrial disease Motor neuron disease Mucolipidosis Mucopolysaccharidosis Muscular channelopathy Neuromuscular disease Neuromuscular junction disease Neuronal ceroid lipofuscinosis Niemann-Pick disease type C Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Oligosaccharidosis Organic aciduria Other metabolic disease Peroxisomal beta-oxidation disorder Peroxisomal disease Peroxisome biogenesis disorder Primary hyperoxaluria type 1 Pycnodysostosis Pyruvate metabolism disorder Rare dyslipidemia Rare inborn errors of metabolism Refsum disease Rhizomelic chondrodysplasia punctata Skeletal muscle disease Sphingolipidosis Sterol metabolism disorder Tricarboxylic acid cycle disorder