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:
45,X/46,XY mixed gonadal dysgenesis 46,XX disorder of gonadal development 46,XX disorder of sex development 46,XX disorder of sex development induced by androgens excess 46,XX disorder of sex development induced by endogenous maternal-derived androgen 46,XX disorder of sex development induced by exogenous maternal-derived androgen 46,XX disorder of sex development induced by fetal androgens excess 46,XX disorder of sex development induced by fetoplacental androgens excess 46,XX disorder of sex development induced by maternal-derived androgen 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX gonadal dysgenesis 46,XX ovotesticular disorder of sex development 46,XX testicular disorder of sex development 46,XY complete gonadal dysgenesis 46,XY disorder of gonadal development 46,XY disorder of sex development 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to a cholesterol synthesis defect 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY disorder of sex development due to a testosterone synthesis defect 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to testicular steroidogenesis defect 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY ovotesticular disorder of sex development 46,XY partial gonadal dysgenesis 48,XXXY syndrome 48,XXYY syndrome 49,XXXXY syndrome ACTH-dependent Cushing syndrome ACTH-independent Cushing syndrome ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor Acquired immunodeficiency Acquired pituitary hormone deficiency Acromegaly Adrenocortical carcinoma Adrenogenital syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Androgen insensitivity syndrome Aromatase deficiency Autosomal dominant hypocalcemia Campomelic dysplasia Carcinoid syndrome Chondrodysplasia-disorder of sex development syndrome Chronic primary adrenal insufficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital lipoid adrenal hyperplasia due to STAR deficency Complete androgen insensitivity syndrome Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital hypothyroidism Congenital lipoid adrenal hyperplasia due to STAR deficency Cushing syndrome Denys-Drash syndrome Disorder of sex development Disorder of sex development-intellectual disability syndrome Distal monosomy 9p Duodenal neuroendocrine tumor Dysmorphism-short stature-deafness-disorder of sex development syndrome Familial adrenal hypoplasia with absent pituitary luteinizing hormone Familial hyperaldosteronism Familial hyperthyroidism due to mutations in TSH receptor Familial hypocalciuric hypercalcemia Frasier syndrome Gastroenteropancreatic neuroendocrine neoplasm Glanzmann thrombasthenia Glucagonoma Glucocorticoid resistance Goblet cell carcinoma Hemophilia Hemophilia A Hemophilia B Hyperandrogenism due to cortisone reductase deficiency Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Ileal neuroendocrine tumor Insulinoma Jejunal neuroendocrine tumor Kallmann syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia due to partial LH resistance Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Meacham syndrome Mild hemophilia A Mild hemophilia B Moderately severe hemophilia A Moderately severe hemophilia B Monosomy X Mosaic monosomy X Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Müllerian aplasia and hyperandrogenism Neonatal severe primary hyperparathyroidism Neuroendocrine neoplasm of appendix Neuroendocrine tumor of anal canal Neuroendocrine tumor of pancreas Neuroendocrine tumor of stomach Neuroendocrine tumor of the colon Neuroendocrine tumor of the rectum Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Oncogenic osteomalacia PAGOD syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Partial androgen insensitivity syndrome Penile agenesis Perrault syndrome Persistent Müllerian duct syndrome Pituitary adenoma Pituitary deficiency Primary immunodeficiency Primary pigmented nodular adrenocortical disease Pseudohypoparathyroidism Rare disease with Cushing syndrome as a major feature Rare genetic thyroid disease Rare hyperthyroidism Rare hypoparathyroidism Rare hypothyroidism SERKAL syndrome Severe hemophilia A Severe hemophilia B Sex chromosome disorder of sex development Smith-Lemli-Opitz syndrome Sudden infant death-dysgenesis of the testes syndrome Symptomatic form of hemophilia A in female carriers Symptomatic form of hemophilia B in female carriers Syndrome with 46,XX disorder of sex development Syndrome with 46,XY disorder of sex development Testicular agenesis Testicular regression syndrome Tetragametic chimerism Turner syndrome Turner syndrome due to structural X chromosome anomalies VIPoma Von Willebrand disease Von Willebrand disease type 1 Von Willebrand disease type 2 Von Willebrand disease type 3 WAGR syndrome X-linked lissencephaly with abnormal genitalia XY type gonadal dysgenesis-associated anomalies syndrome Zollinger-Ellison syndrome