Mapping of Health Care Providers
for People with Rare Diseases

In the following you will find the diseases that are treated in this facility:
17q11 microdeletion syndrome APC-related attenuated familial adenomatous polyposis ATTRV122I amyloidosis Abetalipoproteinemia Acrodermatitis enteropathica Acroosteolysis dominant type Aplasia cutis congenita-intestinal lymphangiectasia syndrome Atresia of small intestine Atrial septal defect-atrioventricular conduction defects syndrome Atrial standstill Attenuated familial adenomatous polyposis Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Autoimmune enteropathy type 2 Autoimmune enteropathy type 3 Autoinflammatory syndrome of childhood Bannayan-Riley-Ruvalcaba syndrome Behçet disease Brachydactyly-long thumb syndrome Brugada syndrome Cap polyposis Cardiodysrhythmic potassium-sensitive periodic paralysis Cardiofaciocutaneous syndrome Cardiomyopathy Cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome Carvajal syndrome Catecholaminergic polymorphic ventricular tachycardia Chronic diarrhea due to glucoamylase deficiency Chronic diarrhea due to guanylate cyclase 2C overactivity Chronic diarrhea with villous atrophy Chronic hiccup Chronic intestinal failure Chronic intestinal pseudoobstruction Chylomicron retention disease Cirrhotic cardiomyopathy Combined oxidative phosphorylation defect type 17 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital chloride diarrhea Congenital chronic diarrhea with protein-losing enteropathy Congenital enterocyte heparan sulfate deficiency Congenital enteropathy due to enteropeptidase deficiency Congenital enteropathy involving intestinal mucosa development Congenital heart block Congenital intestinal disease due to an enzymatic defect Congenital intestinal transport defect Congenital lactase deficiency Congenital short bowel syndrome Congenital sodium diarrhea Congenital sucrase-isomaltase deficiency Congenital sucrase-isomaltase deficiency with minimal starch tolerance Congenital sucrase-isomaltase deficiency with starch and lactose intolerance Congenital sucrase-isomaltase deficiency with starch intolerance Congenital sucrase-isomaltase deficiency without starch intolerance Congenital sucrase-isomaltase deficiency without sucrose intolerance Congenital tufting enteropathy Costello syndrome Cowden syndrome Cronkhite-Canada syndrome Cutaneous photosensitivity-lethal colitis syndrome Cystic fibrosis-gastritis-megaloblastic anemia syndrome Diabetic embryopathy Dilated cardiomyopathy Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Endomyocardial fibroelastosis Enteric anendocrinosis Enthesitis-related juvenile idiopathic arthritis Eosinophilic esophagitis Eosinophilic gastroenteritis Familial adenomatous polyposis Familial adenomatous polyposis due to 5q22.2 microdeletion Familial atrial fibrillation Familial dilated cardiomyopathy Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left dominant form Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Familial isolated dilated cardiomyopathy Familial isolated restrictive cardiomyopathy Familial long QT syndrome Familial progressive cardiac conduction defect Familial restrictive cardiomyopathy Familial short QT syndrome Familial sick sinus syndrome Familial visceral myopathy Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Gardner syndrome Gastric linitis plastica Gastroschisis Generalized congenital lipodystrophy with myopathy Generalized juvenile polyposis/juvenile polyposis coli Genetic cardiac rhythm disease Glucose-galactose malabsorption Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease with hypertrophic cardiomyopathy Gorham-Stout disease Gräsbeck-Imerslund disease HEC syndrome Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type Hereditary angioedema Hereditary angioedema type 1 Hereditary angioedema type 2 Hereditary angioedema type 3 Hereditary folate malabsorption Hereditary fructose intolerance Hereditary hemorrhagic telangiectasia Hereditary mixed polyposis syndrome Hirschsprung disease His bundle tachycardia Histiocytoid cardiomyopathy Holt-Oram syndrome Hyperplastic polyposis syndrome Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy due to intensive athletic training Idiopathic giant cell myocarditis Idiopathic juvenile osteoporosis Idiopathic malabsorption due to bile acid synthesis defects Idiopathic neonatal atrial flutter Idiopathic ventricular fibrillation, non Brugada type Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Incessant infant ventricular tachycardia Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Intermittent hydrarthrosis Intestinal disease due to fat malabsorption Intestinal disease due to vitamin absorption anomaly Intestinal lymphangiectasia Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal polyposis syndrome Intractable diarrhea of infancy Intractable diarrhea-choanal atresia-eye anomalies syndrome Jervell and Lange-Nielsen syndrome Juvenile idiopathic arthritis Juvenile polyposis of infancy Juvenile polyposis syndrome Kein Name gefunden Left ventricular noncompaction Legius syndrome Loeffler endocarditis Lown-Ganong-Levine syndrome MUTYH-related attenuated familial adenomatous polyposis Malakoplakia Malignant atrophic papulosis Maternally-inherited cardiomyopathy and hearing loss Microcephaly-cardiomyopathy syndrome Microvillus inclusion disease Mitochondrial disease with dilated cardiomyopathy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Multifocal atrial tachycardia Myopathic intestinal pseudoobstruction Ménétrier disease Naxos disease Neonatal inflammatory skin and bowel disease Neurofibromatosis type 1 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Neurofibromatosis type 2 Neurofibromatosis type 3 Neurofibromatosis type 6 Neuronal intestinal pseudoobstruction Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial restrictive cardiomyopathy Non-genetic cardiac rhythm disease Non-hypoproteinemic hypertrophic gastropathy Noonan syndrome Noonan syndrome and Noonan-related syndrome Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Oculogastrointestinal muscular dystrophy Oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Palmoplantar keratoderma-esophageal carcinoma syndrome Peripartum cardiomyopathy Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Peutz-Jeghers syndrome Plummer-Vinson syndrome Polyarticular juvenile idiopathic arthritis PrP systemic amyloidosis Primary intestinal lymphangiectasia Primary short bowel syndrome Progeria-associated arthropathy Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Psoriasis-related juvenile idiopathic arthritis Pyoderma gangrenosum Radiation proctitis Rare cardiac rhythm disease Rare disease involving intestinal motility Rare familial disorder with hypertrophic cardiomyopathy Rare gastroesophageal disease Rare inflammatory bowel disease Rare intestinal disease Rare pediatric systemic disease Rare pediatric vasculitis Rare systemic or rheumatological disease of childhood Reactive arthritis Restrictive cardiomyopathy Rheumatoid factor-negative juvenile idiopathic arthritis Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Romano-Ward syndrome SAPHO syndrome Sandifer syndrome Sarcoidosis Secondary intestinal lymphangiectasia Secondary short bowel syndrome Sensorineural deafness with dilated cardiomyopathy Severe immune-mediated enteropathy Short bowel syndrome Sino-auricular heart block Sinoatrial node dysfunction and deafness Solitary rectal ulcer syndrome Sweet syndrome Syndrome associated with dilated cardiomyopathy Syndrome associated with hypertrophic cardiomyopathy Syndromic diarrhea Systemic-onset juvenile idiopathic arthritis Tako-Tsubo cardiomyopathy Timothy syndrome Torsade-de-pointes syndrome with short coupling interval Trehalase deficiency Tropical endomyocardial fibrosis Tubular renal disease-cardiomyopathy syndrome Turcot syndrome with polyposis Uhl anomaly Unclassified cardiomyopathy Unclassified intestinal pseudoobstruction Undetermined colitis Unspecified juvenile idiopathic arthritis Waardenburg-Shah syndrome Whipple disease X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome