Select the rare disease you have a connection with
A
- Achondroplasia
- Acromegaly
- Activated PI3K Delta Syndrome
- Acute Peripheral Arterial Occlusion
- Acute Repetitive Seizures
- Adenomatous Polyposis
- Adenosine Deaminase
- Adrenal Hyperplasia
- Alagille Syndrome
- Alpha-1 Antitrypsin Deficiency
- Alpha1-antitrypsin deficiency (AATD)
- Alport Syndrome
- Alport Syndrome
- Amyloidosis – AA
- Amyloidosis – AL
- Amyloidosis – TTR
- Amyotrophic lateral sclerosis (ALS)
- Andrenoleukodystrophy
- Anterior Uveitis
- Aplastic Anemia
- Arginese Deficiency
- Ataxia-Telangiectasia
- Atypical Hemolytic Uremic Syndrome
B
C
- Carcinoid Syndrome
- Cardiomyopathy
- Carnitine Deficiency (SPCP or CTD)
- Cerebrotendinous Xanthomatosis
- Cervical dysplasia
- Chagas Disease
- Choroideremia
- Churg-Strauss Syndrome
- Complement-Mediated Thrombotic Microangiopathy
- Complex Regional Pain Syndrome (CRPS)
- Congenital Muscular Dystrophy
- Congenital Myasthenic Syndromes
- Corneal Ectasia
- Cryopyrin – Associated Periodic Syndromes (CAPS)
- Cushing’s Syndrome
- Cystic Fibrosis
- Cystinosis
- Cystinuria
D
E
F
G
H
- Hemoglobinuria
- Hemophagocytic Lymphohistiocytosis
- Hemophilia A
- Hemophilia B
- Hepatic Encephalopathy (HE)
- Hereditary Angiodema
- Hereditary Inclusion Body Myopathy
- Huntington’s Disease
- Hyperammonemia
- Hypercholesterolemia (Familial)
- Hyperimmunoglobulinemia D and Periodic Fever Syndrome
- Hyperphenylalaninemia
- Hypertriglyceridemia in the setting of Type I Hyperlipoproteinemia
- Hypoparathyroidism
- Hypoplasminogenemia
I
L
- Lambert-Eaton Myasthenic Syndrome
- Landau-Kleffner syndrome (LKS)
- Laron Syndrome
- Leber Congenital Amaurosis
- Leber Hereditary Optic Neuropathy
- Leber’s Congenital Amaurosis Type II
- Leigh Syndrome
- Lennox-Gastaut Syndrome
- Leukodystrophy
- Ligneous Conjunctivitis
- Long QT Syndrome (Congenital)
- Lupus (systemic lupus erythematosus, SLE)
- Lymphangioleiomyomatosis
- Lysomal Acid Lipex (LAL) Deficiency
M
- Macular Telangiectasia
- Maple Syrup Urine Disease
- Marfan Syndrome
- Mastocytosis
- Molybdenum Cofactor Deficiency Type A (MoCD)
- Mucopolysaccharidosis IIIB (Sanfilippo B Syndrome)
- Mucopolysaccharidosis Type 1 (MPS)
- Mucopolysaccharidosis Type II (Hunter Syndrome)
- Mucopolysaccharidosis VII
- Mucositis
- Multiple Sclerosis
- Myasthenia Gravis
- Myelodysplastic Syndrome (MDS)
- Myelofibrosis
- Myotonic Dystrophy Type I
N
P
- Pachyonychia Congenita
- Paget Syndrome
- Pantothenate Kinase Associated Neurodegeneration (PKAN)
- Panuveitis
- Paroxsymal nocturnal hemoglobinuria (PNH)
- Pediatric Polycystic Ovary Syndrome
- Pemphigus Vulgaris
- Phenylketonuria (PKU)
- Polyangitis
- Polyarticular Juvenile
- Polycystic Kidney Disease
- Polycythemiavera
- Polymyositis
- Pompe Disease
- Prader-Willi Syndrome
- Primary Biliary Cirrhosis
- Primary Hyperoxaluria
- Primary Sclerosing Cholangitis
- Progressive supranuclear palsy (PSP)
- Proteus Syndrome
- Protocadherin 19 (PCDH19)
- Pterygium
- Pulmonary Arterial Hypertension (PAH)
- Pulmonary Tuberculosis
- Pyruvate Kinase Deficiency