SE-ATLAS

2-methylbutyryl-CoA dehydrogenase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyisobutyric aciduria 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 Acrocapitofemoral dysplasia Acromesomelic dysplasia, Hunter-Thompson type Acyl-CoA dehydrogenase 9 deficiency Adrenomyeloneuropathy Adult polyglucosan body disease Aneurysmal bone cyst Atelosteogenesis type I Atelosteogenesis type III Autosomal dominant omodysplasia Autosomal dominant osteopetrosis type 1 Autosomal recessive malignant osteopetrosis Autosomal recessive omodysplasia Barth syndrome Beta-ketothiolase deficiency Bifunctional enzyme deficiency Biotinidase deficiency Blomstrand lethal chondrodysplasia Bruck syndrome Camurati-Engelmann disease Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Cartilage-hair hypoplasia Chronic diarrhea due to glucoamylase deficiency Classic galactosemia Classic glucose transporter type 1 deficiency syndrome Cole-Carpenter syndrome Complex lethal osteochondrodysplasia Congenital sucrase-isomaltase deficiency Craniodiaphyseal dysplasia Craniometaphyseal dysplasia D-glyceric aciduria Desbuquois syndrome Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Dilated cardiomyopathy with ataxia Disorder of branched-chain amino acid metabolism Disorder of fatty acid oxidation and ketone body metabolism Disorder of fructose metabolism Disorder of galactose metabolism Disorder of ketolysis Disorder of pentose phosphate metabolism Dysosteosclerosis Dysostosis, Stanescu type Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Endosteal hyperostosis, Worth type Essential fructosuria Familial renal glucosuria Fanconi-Bickel syndrome Fatal infantile lactic acidosis with methylmalonic aciduria Fibrous dysplasia of bone Fructose-1,6-bisphosphatase deficiency Galactokinase deficiency Galactose epimerase deficiency Galactose mutarotase deficiency Galactosemia Genochondromatosis type 1 Genochondromatosis type 2 Gluconeogenesis disorder Glucose transport disorder Glucose-galactose malabsorption Glycogen storage disease Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Gnathodiaphyseal dysplasia Hereditary folate malabsorption Hereditary fructose intolerance Hurler syndrome Hurler-Scheie syndrome Hyaluronidase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperostosis corticalis generalisata Hyperostosis cranialis interna Intermediate maple syrup urine disease Intermediate osteopetrosis Intermittent maple syrup urine disease Isobutyryl-CoA dehydrogenase deficiency Isolated glycerol kinase deficiency Isolated osteopoikilosis Isolated sternocostoclavicular hyperostosis Isovaleric acidemia Kyphomelic dysplasia Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Maffucci syndrome Maple syrup urine disease Mazabraud syndrome McCune-Albright syndrome Medial condensing osteitis of the clavicle Medium chain acyl-CoA dehydrogenase deficiency Melorheostosis Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, Savarirayan type Metachondromatosis Metaphyseal acroscyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal dysplasia, Braun-Tinschert type Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic aciduria due to transcobalamin receptor defect Mitochondrial trifunctional protein deficiency Monostotic fibrous dysplasia Morgagni-Stewart-Morel syndrome Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Multiple acyl-CoA dehydrogenase deficiency Multiple carboxylase deficiency Multiple epiphyseal dysplasia, Lowry type Multiple osteochondromas Multiple synostoses syndrome Neonatal adrenoleukodystrophy Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Odontochondrodysplasia Ollier disease Omodysplasia Osteomesopyknosis Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteosclerotic metaphyseal dysplasia Pentosuria Peroxisomal acyl-CoA oxidase deficiency Peroxisomal beta-oxidation disorder Phosphoenolpyruvate carboxykinase deficiency Polyglucosan body myopathy type 1 Polyglucosan body myopathy type 2 Polyostotic fibrous dysplasia Primary hyperoxaluria Primary hyperoxaluria type 1 Primary hyperoxaluria type 2 Primary hyperoxaluria type 3 Propionic acidemia Pseudodiastrophic dysplasia Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate carboxylase deficiency Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase deficiency Pyruvate dehydrogenase phosphatase deficiency Ribose-5-P isomerase deficiency Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type C Sanfilippo syndrome type D Scheie syndrome Schwartz-Jampel syndrome Sclerosteosis Short chain acyl-CoA dehydrogenase deficiency Singleton-Merten dysplasia Solitary bone cyst Stüve-Wiedemann syndrome Succinyl-CoA:3-oxoacid CoA transferase deficiency Systemic primary carnitine deficiency Thiamine-responsive maple syrup urine disease Transaldolase deficiency Transcobalamin I deficiency Trehalase deficiency Upington disease Very long chain acyl-CoA dehydrogenase deficiency Vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-unresponsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut0 X-linked adrenoleukodystrophy X-linked calvarial hyperostosis X-linked cerebral adrenoleukodystrophy