Diseases
Spotlight on rare and genetic diseases and cancersMicroCenters
- Acid Sphingomyelinase Deficiency (ASMD)
- Acute Myeloid Leukemia
- Bile Acid Synthesis
- Cerebrotendinous Xanthomatosis
- Charcot-Marie-Tooth Disease – Type 1A
- Congenital Myasthenic Syndromes
- Cystinuria
- Cushing Syndrome
- Fabry Disease
- Focal Segmental Glomerulosclerosis
- Hereditary ATTR Amyloidosis
- Gaucher Disease
- Lambert-Eaton Myasthenic Syndrome
- Mucopolysaccharidosis Type 1 (MPS 1)
- Mucopolysaccharidosis type VII (Sly Syndrome)
- Pantothenate Kinase-Associated Neurodegeneration (PKAN)
- Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders)
- Pompe Disease (also called Glycogen storage disease type 2)
- Pulmonary Arterial Hypertension
- X-linked Juvenile Retinoschisis
- Zellweger Syndrome
Disease Groups
- Autoimmune/Auto-inflammatory Diseases
- Bacterial Infections
- Behavioral And Mental Disorders
- Blood Diseases
- Chromosome Disorders
- Congenital And Genetic Diseases
- Connective Tissue Diseases
- Digestive Diseases
- Ear, Nose, And Throat Diseases
- Endocrine Diseases
- Eye Diseases
- Female Reproductive Diseases
- Fungal Infections
- Heart Diseases
- Hereditary Cancer Syndromes
- Immune System Diseases
- Kidney And Urinary Diseases
- Lung Diseases
- Metabolic Disorders
- Mouth Diseases
- Musculoskeletal Diseases
- Myelodysplastic Syndromes
- Nervous System Diseases
- Newborn Screening
- Parasitic Diseases
- Rare Cancers
- Skin Diseases
- Unknown Origin
- Viral Infections