SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that this support group organisation focuses on:
46,XX difference of sex development-anorectal anomalies syndrome Ankyloblepharon filiforme adnatum-imperforate anus syndrome Anorectal malformation Autosomal dominant Opitz G/BBB syndrome Axenfeld-Rieger syndrome BNAR syndrome Baller-Gerold syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome Caudal duplication Caudal regression syndrome Caudal regression-sirenomelia spectrum Cloacal exstrophy Currarino syndrome Familial caudal dysgenesis Fraser syndrome Goldberg-Shprintzen megacolon syndrome High isolated anorectal malformation Hirschsprung disease Hirschsprung disease-deafness-polydactyly syndrome Hirschsprung disease-ganglioneuroblastoma syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-type D brachydactyly syndrome Intermediate isolated anorectal malformation Johanson-Blizzard syndrome Kabuki syndrome LUMBAR syndrome Low isolated anorectal malformation Lowe-Kohn-Cohen syndrome Non-syndromic anorectal malformation Non-syndromic anorectal malformation with H-type fistula Non-syndromic anorectal malformation with anal stenosis Non-syndromic anorectal malformation with perineal fistula Non-syndromic anorectal malformation with pouch colon Non-syndromic anorectal malformation with rectal atresia Non-syndromic anorectal malformation with rectal stenosis Non-syndromic anorectal malformation with rectourethral fistula Non-syndromic anorectal malformation with rectourethral fistula, bulbar type Non-syndromic anorectal malformation with rectourethral fistula, prostatic type Non-syndromic anorectal malformation with rectovaginal fistula Non-syndromic anorectal malformation with rectovesical fistula Non-syndromic anorectal malformation with vestibular fistula Non-syndromic anorectal malformation without fistula Non-syndromic cloacal malformation Okihiro syndrome Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to a point mutation Opitz GBBB syndrome Rectal duplication Sirenomelia Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome Syndactyly-telecanthus-anogenital and renal malformations syndrome Syndromic anorectal malformation Townes-Brocks syndrome VACTERL/VATER association X-linked Opitz G/BBB syndrome