Rare Diseases All Topics

1p36 Deletion Syndrome

Achalasia

Adrenal Insufficiency

Alagille Syndrome

Alkaptonuria

Anemia of Chronic Disease

Autoimmune Polyglandular Syndrome Type I

Beta Thalassemia

Buerger Disease

Canavan Disease

Castleman Disease

Cornelia de Lange Syndrome

Ehlers-Danlos Syndrome

Epidermolysis Bullosa

Esophageal Cancer

Esophageal Atresia & Tracheoesophageal Fistula

Fascioscapulohumeral Muscular Dystrophy

Fibromuscular Dysplasia

FOXG1 Syndrome

Gaucher Disease

Glioblastoma

Gorlin Syndrome

Hemophilia

Hirschsprung Disease

Huntington Disease

Idiopathic Intracranial Hypertension

Infantile Neuroaxonal Dystrophy

KIF1A-Associated Neurological Disorder

Langerhans Cell Histiocytosis

Leprosy

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Nail-Patella Syndrome

Narcolepsy

Neuronal Ceroid Lipofuscinosis (Batten Disease)

Ovarian Cancer

Pernicious Anemia

PGAP3-Congenital Disorder of Glycosylation

PHACE Syndrome

Phenylketonuria

Pierre-Robin Sequence

PIK3CA-related overgrowth spectrum

Precocious Puberty

Reiter Syndrome

Retroperitoneal Fibrosis

Sanfilippo Syndrome

Schwachman-Diamond Disease

Syringomyelia

Tetralogy Of Fallot

Thoracic Outlet Syndrome

Turner Syndrome

Wernicke-Korsakoff Syndrome