SE-ATLAS

2-hydroxyglutaric aciduria 3-hydroxy-3-methylglutaric aciduria 3-hydroxyisobutyric aciduria 3-methylcrotonyl-CoA carboxylase deficiency 46,XX difference of sex development 46,XY difference of sex development ALG1-CDG ALG11-CDG ALG12-CDG ALG13-CDG ALG2-CDG ALG3-CDG ALG6-CDG ALG8-CDG ALG9-CDG Acidurie 3-méthylglutaconique Acidurie organique Acidurie organique classique Acidurie organique cérébrale Acidémie combinée malonique et méthylmalonique Acidémie méthylmalonique avec homocystinurie Acromégalie Addison disease Adult polyglucosan body disease Agression pulmonaire aiguë Agénésie de la trachée Aldosterone-producing adenoma Anomalie de la glycosylation des glycosphingolipides et des protéines à ancres glycosylphosphatidylinositol Anomalie de transport et d'absorption des métabolites Anomalies multiples de la glycosylation Apnée infantile Argininemia Argininosuccinic aciduria Aspergillose broncho-pulmonaire allergique Autism spectrum disorder-epilepsy-arthrogryposis syndrome B4GALT1-CDG Beta-ketothiolase deficiency Bronchiolite oblitérante CAD-CDG CCDC115-CDG Carbamoyl-phosphate synthetase 1 deficiency Citrullinémie Classic galactosemia Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital lobar emphysema Congenital pulmonary airway malformation Congenital pulmonary sequestration Congenital respiratory-biliary fistula Congenital tracheomalacia Cystic fibrosis Cystinose DDOST-CDG DK1-CDG DPAGT1-CDG DPM1-CDG DPM3-CDG Defect in V-ATPase Defect in conserved oligomeric Golgi complex Diffuse alveolar hemorrhage Diffuse panbronchiolitis Différence du développement sexuel Disorder of amino acid and other organic acid metabolism Disorder of biogenic amine metabolism and transport Disorder of energy metabolism Disorder of galactose metabolism Disorder of lysosomal-related organelles Disorder of protein N-glycosylation Disorder of protein O-glycosylation Disorder of purine or pyrimidine metabolism Dysplasie broncho-pulmonaire Dystrophie musculaire congénitale avec déficience intellectuelle et épilepsie sévère Déficit en 2-méthylbutyryl-CoA déshydrogénase Déficit en alpha-1-antitrypsine Déficit en aminoacylase Déficit en hyaluronidase Déficit en isobutyryl-CoA déshydrogénase Erythrocyte galactose epimerase deficiency Familial spontaneous pneumothorax Fanconi-Bickel syndrome Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Galactokinase deficiency Galactose epimerase deficiency Galactosémie Generalized galactose epimerase deficiency Genetic cystic renal disease Glutaryl-CoA dehydrogenase deficiency Glycogen storage disease Glycogen storage disease due to acid maltase deficiency, infantile onset 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, 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 glycogen synthase 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 Glycogénose avec cardiomyopathie sévère par déficit en glycogénine Glycogénose par déficit en LAMP-2 Glycogénose par déficit en aldolase A musculaire Glycogénose par déficit en enzyme branchante de l'adulte, forme neuromusculaire Glycogénose par déficit en maltase acide Glycogénose par déficit en maltase acide à début tardif Glycogénose par déficit en sous-unité H de la lactate déshydrogénase Glycogénose par déficit en sous-unité M de la lactate déshydrogénase HSD10 disease Hyperammonemia due to N-acetylglutamate synthase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperinsulinism-hyperammonemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Hypoplasie pulmonaire primitive Idiopathic bronchiectasis Infantile nephronophthisis Insuffisance surrénalienne aiguë Interstitial lung disease in childhood and adulthood Isovaleric acidemia Juvenile nephronophthisis Laryngotracheoesophageal cleft Leukocyte adhesion deficiency type II Lysosomal disease MAN1B1-CDG MGAT2-CDG MOGS-CDG MPDU1-CDG MPI-CDG McCune-Albright syndrome Methylmalonic acidemia without homocystinuria 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 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Multiple carboxylase deficiency Multiple endocrine neoplasia Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Myopathie liée à GNE Nephronophthisis Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Ornithine transcarbamylase deficiency Other metabolic disease PGM1-CDG PGM3-CDG PMM2-CDG Peroxisomal disease Pneumopathie interstitielle spécifique de l'enfance Polyglucosan body myopathy type 1 Polyglucosan body myopathy type 2 Polykystose rénale autosomique dominante Polykystose rénale autosomique récessive Primary ciliary dyskinesia Primary ciliary dyskinesia-retinitis pigmentosa syndrome Propionic acidemia Puberté précoce génétique Pulmonary agenesis Pulmonary alveolar microlithiasis Pulmonary nodular lymphoid hyperplasia RFT1-CDG Rare epilepsy Rare hypoparathyroidism Recurrent respiratory papillomatosis Renal or urinary tract malformation Respiratory malformation Reunion Island Larsen-like syndrome SLC35A1-CDG SLC35A2-CDG SLC39A8-CDG SRD5A3-CDG SSR4-CDG STT3A-CDG STT3B-CDG Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type C Sanfilippo syndrome type D Severe acute respiratory syndrome Siegler-Brewer-Carey syndrome Staphylococcal necrotizing pneumonia Sudden infant death-dysgenesis of the testes syndrome Syndrome d'aspiration méconiale Syndrome de Hurler Syndrome de Hurler-Scheie Syndrome de Kallmann Syndrome de Scheie Syndrome de Turner Syndrome de Young Syndromes myasthéniques congénitaux par défaut de glycosylation Syndromic multisystem autoimmune disease due to Itch deficiency TMEM165-CDG TMEM199-CDG Thrombotic microangiopathy Trachéobronchopathie chondro-ostéoplastique Trouble du métabolisme de la porphyrine et de l'hème Trouble du métabolisme des hydrates de carbone Trouble du métabolisme des lipides Trouble du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac