SE-ATLAS

3-Methylcrotonyl-CoA-Carboxylase-Mangel, isolierter 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 Typ 7 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 Glykogenose durch LAMP-2-Mangel Ollier-Krankheit 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 Intermittent maple syrup urine disease Pyruvate dehydrogenase E1-alpha deficiency Transcobalamin I deficiency Isolated glycerol kinase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Thiamine-responsive maple syrup urine disease Primary hyperoxaluria type 1 Primary hyperoxaluria Primary hyperoxaluria type 3 Sanfilippo syndrome type A 3-hydroxyisobutyric aciduria Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form D-glyceric aciduria Melorheostosis Mazabraud syndrome Metachondromatosis Metaphyseal chondrodysplasia, Spahr type Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-unresponsive methylmalonic acidemia type mut- Familial renal glucosuria 3-methylglutaconic aciduria type 4 Craniodiaphyseal dysplasia Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Morgagni-Stewart-Morel syndrome Mucopolysaccharidosis type 2, severe form Maple syrup urine disease Classic glucose transporter type 1 deficiency syndrome Stüve-Wiedemann syndrome Autosomal recessive omodysplasia Autosomal dominant omodysplasia Metaphyseal chondrodysplasia, Kaitila type Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Complex lethal osteochondrodysplasia Atelosteogenesis type I Omodysplasia Cartilage-hair hypoplasia Dysplasia of head of femur, Meyer type Multiple synostoses syndrome Mesomelic dysplasia, Savarirayan type Pseudodiastrophic dysplasia Singleton-Merten dysplasia Bruck syndrome Genochondromatosis type 2 Isolated osteopoikilosis Mitochondrial trifunctional protein deficiency Dysosteosclerosis Pycnodysostosis Blomstrand lethal chondrodysplasia Dysplasie kyphomélique Syndrome de Schwartz-Jampel Dysplasie mésomélique type Kantaputra Kyste osseux anévrysmal Dysplasie métaphysiaire ostéosclérotique Maladie d'Upington Acidurie 3-méthylglutaconique type 8 Odontochondrodysplasie Déficit en ribose-5-phosphate isomerase Acidurie 3-méthylglutaconique type 9 Syndrome de Desbuquois Déficit en acyl-CoA oxydase Malabsorption héréditaire de l'acide folique Dysplasie gnatho-diaphysaire Dysplasie acromésomélique type Hunter-Thompson Dysplasie acro-capito-fémorale Déficit en tréhalase Atélostéogenèse type III Dysplasie cranio-métaphysaire Déficit en galactose mutarotase Déficit en carnitine palmitoyltransférase II Glycogénose par déficit en phosphorylase kinase musculaire Chondrodysplasie métaphysaire type Jansen Maladie de Fabry Glycogénose par déficit en maltase acide à début infantile Glycogénose par déficit en phosphofructokinase musculaire Pycnoachondrogenèse Syndrome de Cole-Carpenter Mucopolysaccharidose type 2, forme atténuée Fructosurie essentielle Kyste osseux solitaire Adrénoleucodystrophie liée à l'X Syndrome de cardiomyopathie dilatée-ataxie Dysplasie épiphysaire multiple type Lowry Ostéopétrose avec acidose tubulaire rénale Dysostose type Stanescu Déficit en 3-hydroxy-3-méthylglutaryl-CoA synthétase Glycogénose par déficit en glycogène synthase cardiaque et musculaire Déficit en pyruvate carboxylase Acidémie méthylmalonique sensible à la vitamine B12 type cblB