SE-ATLAS

3-methylcrotonyl-CoA carboxylase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Metaphyseal anadysplasia Fatal infantile lactic acidosis with methylmalonic aciduria 3-hydroxy-3-methylglutaric aciduria Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Vitamin B12-unresponsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia Isovaleric acidemia Propionic acidemia Fanconi-Bickel syndrome Glycogen storage disease due to hepatic glycogen synthase deficiency Medium chain acyl-CoA dehydrogenase deficiency Neonatal adrenoleukodystrophy Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency McCune-Albright syndrome Mucopolysaccharidosis type 4A Glycogen storage disease due to aldolase A deficiency Mucopolysaccharidosis type 4B Acyl-CoA dehydrogenase 9 deficiency Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 7 3-methylglutaconic aciduria type 7 Barth syndrome Methylmalonic aciduria due to transcobalamin receptor defect Polyglucosan body myopathy type 1 Vitamin B12-unresponsive methylmalonic acidemia type mut0 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Adrenomyeloneuropathy X-linked cerebral adrenoleukodystrophy Beta-ketothiolase deficiency Multiple carboxylase deficiency Autosomal recessive malignant osteopetrosis Carnitine palmitoyl transferase 1A deficiency Systemic primary carnitine deficiency Carnitine-acylcarnitine translocase deficiency Pyruvate dehydrogenase E1-beta deficiency Transaldolase deficiency Short chain acyl-CoA dehydrogenase deficiency Metaphyseal chondrodysplasia, Schmid type Polyglucosan body myopathy type 2 Intermediate osteopetrosis Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Metaphyseal acroscyphodysplasia Osteomesopyknosis Endosteal hyperostosis, Worth type Disorder of fructose metabolism Pentosuria Glycogen storage disease due to LAMP-2 deficiency Ollier disease Bifunctional enzyme deficiency Fructose-1,6-bisphosphatase deficiency Disorder of branched-chain amino acid metabolism Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Classic galactosemia Intermediate maple syrup urine disease Biotinidase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase phosphatase deficiency Primary hyperoxaluria type 2 Sanfilippo syndrome type C Sanfilippo syndrome type B Sanfilippo syndrome type D Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Pyle disease Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to phosphoglycerate mutase deficiency Hereditary fructose intolerance Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Hyaluronidase deficiency Chronic diarrhea due to glucoamylase deficiency 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 1 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Methylmalonic acidemia with homocystinuria Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Mucopolysaccharidosis type 6 Sclerosteosis Monostotic fibrous dysplasia Polyostotic fibrous dysplasia Isolated sternocostoclavicular hyperostosis X-linked calvarial hyperostosis Multiple acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency Metaphyseal dysplasia, Braun-Tinschert type Genochondromatosis type 1 Osteopetrosis-hypogammaglobulinemia syndrome Hyperostosis cranialis interna Osteopetrosis and related disorders Autosomal dominant osteopetrosis type 1 Adult polyglucosan body disease Disorder of galactose metabolism Fibrous dysplasia of bone Pyruvate dehydrogenase deficiency Hurler syndrome Scheie syndrome Hurler-Scheie syndrome Maffucci syndrome Camurati-Engelmann disease Congenital sucrase-isomaltase deficiency 2-methylbutyryl-CoA dehydrogenase deficiency Isobutyryl-CoA dehydrogenase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency Phosphoenolpyruvat-Carboxykinase-Mangel Osteochondrome, multiple Fettsäureoxidationsstörungen und Ketogenesedefekt Glukoneogenese-Störung Glukosetransport-Störung Ketokörper-Stoffwechselstörung Pentosephosphat-Stoffwechselstörung Peroxisomale beta-Oxidationsstörung Hyperostosis corticalis generalisata Pyruvat-Dehydrogenase E3-Mangel Galaktosämie Glykogenose Mukopolysaccharidose Kondensierende Ostitis der medialen Klavikula Glykogenose Typ 3 Glykogenose Typ 5 Glykogenose durch Phosphorylase-Kinase-Mangel Glukose-Galaktose-Malabsorption Glykogenose durch Leberphosphorylasekinasemangel Galaktokinase-Mangel Galaktose-Epimerase-Mangel Glykogenose Typ 4, progressive hepatische Form Ahornsirup-Krankheit, intermittierende Pyruvat-Dehydrogenase E1-alpha-Mangel Transcobalamin I-Mangel Glycerol-Kinase-Mangel, isolierter Glykogenose Typ 1b Glykogenose Typ 4, nonprogressive hepatische Form Glykogenose Typ 1a Ahornsirup-Krankheit, Thiamin-responsive Hyperoxalurie, primäre, Typ 1 Hyperoxalurie, primäre Hyperoxalurie, primäre, Typ 3 Sanfilippo-Krankheit Typ A 3-Hydroxy-Isobuttersäure-Krankheit Glykogenose durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form D-Glycerat-Kinase-Mangel Melorheostose Mazabraud-Syndrom Metachondromatose Chondrodysplasie, metaphysäre, Typ Spahr Methylmalonazidämie, Vitamin B12-sensible, Typ cblA Methylmalonazidämie, Vitamin B12-resistente, Typ mut- Renale Glukosurie, familiäre 3-Methylglutaconazidurie Typ 4 Dysplasie, kraniodiaphysäre Glykogenose durch Glykogen-Branching-Enzym-Mangel, adulte neuromuskuläre Form Stewart-Morel-Morgagni-Syndrom Mukopolysaccharidose Typ 2, schwere Form Ahornsirup-Krankheit Klassisches Glukosetransporter-Typ-1-Mangel-Syndrom Stüve-Wiedemann-Syndrom Omodysplasie, autosomal-rezessive Form Omodysplasie, autosomal-dominante Form Chondrodysplasie, metaphysäre, Typ Kaitila Dysplastische kortikale Hyperostose Typ Kozlowski-Tsuruta Osteochondrodysplasie, komplexe letale Atelosteogenesis Typ I Omodysplasie Knorpel-Haar-Hypoplasie Femurkopfdysplasie Typ Meyer Multiple Synostosen Dysplasie, mesomele, Typ Savarirayan Dysplasie, pseudodiastrophische Singleton-Merten-Dysplasie Bruck-Syndrom Genochondromatose Typ 2 Osteopoikilose, isolierte Defekt des mitochondrialen trifunktionalen Proteins Dysosteosklerose Pyknodysostose Chondrodysplasie Typ Blomstrand Dysplasie, kyphomele Schwartz-Jampel-Syndrom Dysplasie, mesomele, Typ Kantaputra Aneurysmatische Knochenzyste Dysplasie, osteosklerotische metaphysäre Upington-Krankheit 3-Methylglutaconazidurie Typ 8 Goldblatt-Syndrom Ribose-5-phosphat-Isomerase-Mangel 3-Methylglutaconazidurie Typ 9 Desbuquois-Syndrom Acyl-CoA-Oxidase-Mangel, peroxisomaler Folat-Malabsorption, hereditäre Dysplasie, gnatho-diaphysäre Dysplasie, akromesomele, Typ Hunter-Thompson Dysplasie, akro-capito-femorale Trehalase-Mangel Atelosteogenesis Typ III Dysplasie, kranio-metaphysäre Galaktose-Mutarotase-Mangel Carnitin-Palmitoyl-Transferase II-Mangel Glykogenose durch muskulären Phosphorylasekinase-Mangel Chondrodysplasie, metaphysäre, Typ Jansen Fabry-Syndrom Glykogenose Typ 2, infantile Form Glykogenose Typ 7 Pyknoachondrogenesie Cole-Carpenter-Syndrom Mukopolysaccharidose Typ 2, attenuierte Form Fruktosurie, essentielle Knochenzyste, solitäre Adrenoleukodystrophie, X-chromosomale Dilatative Kardiomyopathie mit Ataxie Dysplasie, epiphysäre multiple, Typ Lowry Osteopetrose mit renaler tubulärer Azidose Dysostose Typ Stanescu 3-Hydroxy-3-Methylglutaryl-CoA-Synthase-Mangel Glykogenose durch muskulären Glykogensythasemangel Pyruvat-Carboxylase-Mangel Methylmalonazidämie, Vitamin-B12-sensible, Typ cblB