SE-ATLAS

2-hydroxyglutaric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxyisobutyric aciduria 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconic aciduria 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 Acromegaly Acute adrenal insufficiency Acute lung injury Addison disease Aldosterone-producing adenoma Allergic bronchopulmonary aspergillosis Alpha-1-antitrypsin deficiency Aminoacylase deficiency Aminosäure/organische Säuren-Stoffwechselstörung Argininosuccinic aciduria Argininämie Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom Autoimmunkrankheit, multisystemische syndromale, durch Itch-Mangel Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease B4GALT1-CDG Beta-ketothiolase deficiency Bronchiolitis obliterans Bronchopulmonary dysplasia CAD-CDG CCDC115-CDG Carbamoyl-phosphate synthetase 1 deficiency Cerebral organic aciduria Citrullinemia Classic galactosemia Classic organic aciduria Combined malonic and methylmalonic acidemia Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital lobar emphysema Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital myasthenic syndromes with glycosylation defect Congenital pulmonary airway malformation Congenital pulmonary sequestration Congenital respiratory-biliary fistula Cystic fibrosis Cystinosis DDOST-CDG DK1-CDG DPAGT1-CDG DPM1-CDG DPM3-CDG Defect in V-ATPase Difference of sex development Diffuse alveolar hemorrhage Diffuse panbronchiolitis Disorder of carbohydrate metabolism Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Disorder of lipid metabolism Disorder of lysosomal-related organelles Disorder of metabolite absorption and transport Disorder of multiple glycosylation Disorder of porphyrin and heme metabolism Disorder of protein N-glycosylation Disorder of protein O-glycosylation Disorder of purine or pyrimidine metabolism Disorder of urea cycle metabolism and ammonia detoxification Energiestoffwechselstörung Familial spontaneous pneumothorax Fanconi-Bickel syndrome Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease GCS1-CDG GNE myopathy Galactokinase deficiency Galactose epimerase deficiency Galactosemia Galaktose-Epimerase-Mangel der Erythrozyten Galaktose-Epimerase-Mangel, generalisierter Galaktose-Stoffwechselstörung Genetic cystic renal disease Genetic precocious puberty Glutaryl-CoA dehydrogenase deficiency 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 acid maltase deficiency, late-onset Glycogen storage disease due to aldolase A 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, 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 synthase deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit 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 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 phosphorylase kinase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Glykogenose Glykogenose Typ 1 Glykogenose Typ 3 Glykogenose Typ 4 Glykogenose Typ 4, progressive hepatische Form Glykogenose Typ 5 Glykogenose Typ 6 Glykogenose Typ 7 Glykogenose durch Phosphorylase-Kinase-Mangel HSD10 disease Hurler syndrome Hurler-Scheie syndrome Hyaluronidase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperammonämie durch N-Acetylglutamat-Synthetase-Mangel Hyperinsulinism-hyperammonemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Idiopathic bronchiectasis Infantile apnea Infantile nephronophthisis Interstitial lung disease in childhood and adulthood Interstitial lung disease specific to childhood Isobutyryl-CoA dehydrogenase deficiency Isovaleric acidemia Juvenile nephronophthisis Kallmann syndrome Laryngo-tracheo-ösophageale Spalte Leukocyte adhesion deficiency type II Lysosomal disease MAN1B1-CDG MGAT2-CDG MPDU1-CDG MPI-CDG McCune-Albright syndrome Meconium aspiration syndrome Methylmalonazidämie ohne Homocystinurie Methylmalonic acidemia with homocystinuria Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mukopolysaccharidose Mukopolysaccharidose Typ 2, attenuierte Form Mukopolysaccharidose Typ 2, schwere Form Mukopolysaccharidose Typ 4A Multiple carboxylase deficiency Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Neoplasie, endokrine multiple Neoplasie, endokrine multiple, Typ 1 Neoplasie, endokrine multiple, Typ 2 Nephronophthise Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Organic aciduria Ornithine transcarbamylase deficiency Other metabolic disease PGM1-CDG PGM3-CDG PMM2-CDG Peroxisomal disease Pneumonie, nekrotisierende, Staphylokokken-induzierte Polyglucosan body myopathy type 2 Polyglucosan-Körper-Myopathie Typ 1 Polyglukosankörper-Krankheit, adulte Primary pulmonary hypoplasia Primäre Ziliendyskinesie - Retinitis pigmentosa Propionic acidemia 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 Scheie syndrome Severe acute respiratory syndrome Siegler-Brewer-Carey syndrome Störung des Biogene Amine-Stoffwechsels/-Transports Störung des konservierten oligomeren Golgi-Komplex Sudden infant death-dysgenesis of the testes syndrome TMEM165-CDG TMEM199-CDG Thrombotic microangiopathy Tracheal agenesis Tracheobronchopathia osteochondroplastica Tracheomalazie, kongenitale Turner syndrome Young syndrome Zilien-Dyskinesie, primäre Zwerchfellhernie, kongenitale