Disease List
- Autoimmune / Autoinflammatory diseases
- 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
- Heart Diseases
- Hereditary Cancer Syndromes
- Immune System Diseases
- Kidney and Urinary Diseases
- Lung Diseases
- Male Reproductive Diseases
- Metabolic disorders
- Mitochondrial Diseases, Primary (mitochondrial DNA-encoded)
- Mitochondrial Diseases, Primary (nuclear DNA-encoded)
- Mitochondrial Myopathies, Primary
- Mouth Diseases
- Musculoskeletal Diseases
- Nervous System Diseases
- Newborn Screening
- Parasitic diseases
- Rare Cancers
- RDCRN
- Skin Diseases