SE-ATLAS

3-Methylcrotonyl-CoA-Carboxylase-Mangel Glykogenose durch muskulären beta-Enolase-Mangel Anadysplasie, metaphysäre Fatale infantile Laktatazidose mit Methylmalonazidurie 3-Hydroxy-3-Methylglutarazidurie Hyperammonämische Enzephalopathie durch Carboanhydrase VA-Mangel Methylmalonazidämie, Vitamin B12-resistente Methylmalonazidämie, Vitamin B12-sensible Isovalerianazidämie Propionazidämie Fanconi-Bickel-Syndrom Glykogen-Speicherkrankheit durch hepatischen Glykogensynthase-Mangel Mittelketten-Acyl-CoA-Dehydrogenase-Mangel Adrenoleukodystrophie, neonatale Form Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel McCune-Albright-Syndrom Mukopolysaccharidose Typ 4A Glykogenose Typ 12 Mukopolysaccharidose Typ 4B Acyl-CoA-Dehydrogenase 9-Mangel Mukopolysaccharidose Typ 1 Mukopolysaccharidose Typ 2 Mukopolysaccharidose Typ 3 Mukopolysaccharidose Typ 4 Mukopolysaccharidose Typ 7 3-Methylglutaconazidurie-Katarakt-neurologische Beteiligung-Neutropenie-Syndrom Barth-Syndrom Methylmalonazidurie durch Transcobalamin-Rezeptor-Defekt Polyglucosan-Körper-Myopathie Typ 1 Methylmalonazidämie, Vitamin B12-resistente, Typ mut0 Glykogenose mit schwerer Kardiomyopathie durch Glycogenin-Mangel Adrenomyeloneuropathie Adrenoleukodystrophie, X-chromosomale, zerebrale Form Beta-Ketothiolase-Mangel Multipler Carboxylase-Mangel Osteopetrose, maligne, autosomal-rezessive Form Carnitin-Palmitoyl-Transferase IA-Mangel Carnitin-Mangel, primärer systemischer Carnitin-Acylcarnitin-Translokase-Mangel Pyruvat-Dehydrogenase E1-beta-Mangel Transaldolase-Mangel Kurzketten-Acyl-CoA-Dehydrogenase-Mangel Chondrodysplasie, metaphysäre, Typ Schmid Polyglucosan-Körper-Myopatie Typ 2 Osteopetrosis, intermediäre Glykogenose durch Phosphoglycerat-Kinase 1-Mangel Methylmalonazidämie durch Methylmalonyl-CoA-Epimerase-Mangel Akroscyphodysplasie, metaphysäre Osteomesopyknose Endostale Hyperostose, Typ Worth Fruktose-Stoffwechselstörung Pentosurie 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 Phosphoenolpyruvate carboxykinase deficiency Multiple osteochondromas Disorder of fatty acid oxidation and ketone body metabolism Gluconeogenesis disorder Glucose transport disorder Disorder of ketolysis Disorder of pentose phosphate metabolism Peroxisomal beta-oxidation disorder Hyperostosis corticalis generalisata Pyruvate dehydrogenase E3 deficiency Galactosemia Glycogen storage disease Mucopolysaccharidosis Medial condensing osteitis of the clavicle Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to phosphorylase kinase deficiency Glucose-galactose malabsorption Glycogen storage disease due to liver phosphorylase kinase deficiency Galactokinase deficiency Galactose epimerase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic 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 Odontochondrodysplasia 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 Kraniofaziale Dysostose-Diaphysenhyperplasie-Syndrom 3-Hydroxy-3-Methylglutaryl-CoA-Synthase-Mangel Glykogenose durch Muskel- und Herzglykogensynthase-Mangel Pyruvat-Carboxylase-Mangel Methylmalonazidämie, Vitamin-B12-sensible, Typ cblB