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 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 Acidémie méthylmalonique isolée résistante à la vitamine B12 type mut- Glucosurie rénale familiale Acidurie 3-méthylglutaconique type 4 Dysplasie cranio-diaphysaire Glycogénose par déficit en enzyme branchante de l'adulte, forme neuromusculaire Syndrome de Morgagni-Stewart-Morel Mucopolysaccharidose type 2, forme sévère Maladie des urines sirop d'érable Syndrome de déficit en transporteur du glucose de type 1, forme classique Syndrome de Stüve-Wiedemann Omodysplasie autosomique récessive Omodysplasie autosomique dominante Chondrodysplasie métaphysaire type Kaitila Hyperostose corticale dysplasique type Kozlowski-Tsuruta Ostéochondrodysplasie complexe létale Atélostéogenèse type I Omodysplasie Chondrodysplasie métaphysaire autosomique récessive Dysplasie de la tête du fémur type Meyer Syndrome des synostoses multiples Dysplasie mésomélique type Savarirayan Dysplasie pseudodiastrophique Dysplasie de Singleton-Merten Syndrome de Bruck Génochondromatose type 2 Ostéopoecilie isolée Déficit en protéine trifonctionnelle mitochondriale Dysostéosclérose Pycnodysostose Chondrodysplasie létale de Blomstrand 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