SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that are treated in this facility:
46,XX difference of sex development 46,XX difference of sex development induced by androgens excess 46,XY difference of sex development 46,XY difference of sex development of endocrine origin 48,XXXY syndrome 48,XXYY syndrome 48,XYYY syndrome 49,XXXXY syndrome 8p23.1 microdeletion syndrome Aarskog-Scott syndrome Abruzzo-Erickson syndrome Acute lung injury Allergic bronchopulmonary aspergillosis Alpers-Huttenlocher syndrome Alpha-1-antitrypsin deficiency Alport syndrome Anorectal malformation Atresia of urethra Autosomal recessive faciodigitogenital syndrome Branchioskeletogenital syndrome Bronchiolitis obliterans CHARGE syndrome Caudal regression syndrome Congenital bilateral absence of vas deferens Congenital diaphragmatic hernia Congenital primary megaureter Corpus callosum agenesis-abnormal genitalia syndrome Cystic fibrosis Czeizel-Losonci syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Diaphragmatic or abdominal wall malformation Difference of sex development Diffuse alveolar hemorrhage Diffuse panbronchiolitis Digestive tract malformation Diphallia Double uterus-hemivagina-renal agenesis syndrome Dravet syndrome Duplication of urethra Esophageal malformation Exstrophy-epispadias complex Familial hypospadias Familial spontaneous pneumothorax Familial vesicoureteral reflux Full NF2-related schwannomatosis Gastroduodenal malformation Genetic cystic renal disease Glomerular disease Guttmacher syndrome Hypertelorism-hypospadias-polysyndactyly syndrome Hypospadias-intellectual disability, Goldblatt type syndrome IMAGe syndrome Idiopathic bronchiectasis Idiopathic isolated micropenis Infantile apnea Infectious disease of the nervous system Interstitial lung disease Intestinal malformation Juberg-Marsidi syndrome Lethal hemolytic anemia-genital anomalies syndrome Lower limb malformation-hypospadias syndrome Meconium aspiration syndrome Myopathy-growth delay-intellectual disability-hypospadias syndrome Müllerian duct anomalies-limb anomalies syndrome Nephrosis-deafness-urinary tract-digital malformations syndrome Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Non-syndromic diaphragmatic or abdominal wall malformation Non-syndromic posterior hypospadias Non-syndromic urogenital tract malformation Non-syndromic urogenital tract malformation of female Non-syndromic urogenital tract malformation of male Non-syndromic urogenital tract malformation of male and female Non-syndromic uterovaginal malformation Opitz GBBB syndrome Penile agenesis Penoscrotal transposition Posterior urethral valve Primary ciliary dyskinesia Primary ciliary dyskinesia-retinitis pigmentosa syndrome Prune belly syndrome Pulmonary alveolar microlithiasis Pulmonary nodular lymphoid hyperplasia Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Rare cause of hypertension Rare epilepsy Rare renal disease Rare renal tubular disease Rare vaginal malformation Recurrent respiratory papillomatosis Renal dysplasia-megalocystis-sirenomelia syndrome Renal or urinary tract malformation Rett syndrome Schilbach-Rott syndrome Severe acute respiratory syndrome Sex chromosome difference of sex development Siegler-Brewer-Carey syndrome Spina bifida-hypospadias syndrome Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome Staphylococcal necrotizing pneumonia Subacute sclerosing leukoencephalitis Sudden infant death-dysgenesis of the testes syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Syndromic urogenital tract malformation Thrombotic microangiopathy Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Tracheo-esophageal fistula-hypospadias syndrome Tracheobronchopathia osteochondroplastica Turner syndrome Urachal cyst Urogenital tract malformation Young syndrome