SE-ATLAS

Disorder of beta and omega amino acid metabolism Motor neuron disease Hemolytic anemia due to diphosphoglycerate mutase deficiency Lysosomal disease Rare inborn errors of metabolism Primary hyperoxaluria type 1 Peroxisomal disease Cystic fibrosis Rhizomelic chondrodysplasia punctata Neuromuscular disease Mitochondrial disease Fabry disease CADDS Disorder of carbohydrate metabolism Disorder of urea cycle metabolism and ammonia detoxification Alpha-1-antitrypsin deficiency Disorder of amino acid absorption and transport Disorder of neurotransmitter metabolism and transport Organic aciduria Disorder of porphyrin and heme metabolism Disorder of methionine cycle and sulfur amino acid metabolism Creatine deficiency syndrome Rare dyslipidemia Disorder of gamma-aminobutyric acid metabolism Disorder of fatty acid oxidation and ketone body metabolism Lysosomal acid phosphatase deficiency Disorder of peroxisomal alpha-, beta- and omega-oxidation Gluconeogenesis disorder Disorder of glycerol metabolism Disorder of glycolysis Disorder of metabolite absorption and transport Disorder of histidine metabolism Disorder of lipid metabolism Disorder of glyoxylate metabolism Disorder of pentose phosphate metabolism Disorder of asparagine metabolism Neuronal ceroid lipofuscinosis Disorder of ornithine or proline metabolism Disorder of carbohydrate absorption and transport Peroxisomal beta-oxidation disorder Disorder of peptide metabolism Pycnodysostosis Disorder of phenylalanin or tyrosine metabolism Disorder of galactose metabolism Peroxisome biogenesis disorder Disorder of pyridoxine metabolism Glycoproteinosis Disorder of purine metabolism Disorder of fructose metabolism Disorder of vitamin and non-protein cofactor absorption and transport Disorder of pyrimidine metabolism Disorder of serine or glycine metabolism Disorder of branched-chain amino acid metabolism Disorder of the gamma-glutamyl cycle Disorder of amino acid and other organic acid metabolism Refsum disease Glycogen storage disease Disorder of energy metabolism Disorder of mineral absorption and transport Disorder of lipid absorption and transport Lipid storage disease Disorder of lysosomal amino acid transport Niemann-Pick disease type C Pyruvate metabolism disorder Brachytelephalangic chondrodysplasia punctata Mucolipidosis Disorder of biogenic amine metabolism and transport Mucopolysaccharidosis Acatalasemia Glutaric acidemia type 3 Tricarboxylic acid cycle disorder Oligosaccharidosis Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Metabolic disease involving other neurotransmitter deficiency Other metabolic disease Niemann-Pick disease type C, late infantile neurologic onset Disorder of sialic acid metabolism Disorder of purine or pyrimidine metabolism Sphingolipidosis Sterol metabolism disorder Muscular channelopathy Niemann-Pick disease type C, juvenile neurologic onset Congenital bile acid synthesis defect type 4 Hypotonia-failure to thrive-microcephaly syndrome Disorder of lysine and hydroxylysine metabolism Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Lysosomal glycogen storage disease Skeletal muscle disease Congenital disorder of glycosylation Disorder of tryptophan metabolism Disorder of glutamine metabolism Genetic recurrent myoglobinuria Disorder of lysosomal-related organelles Autosomal dominant myoglobinuria Neuromuscular junction disease