List of Rare Diseases


In India, around 450 rare diseases have been identified till date. Common rare diseases include the blood disorders like Thalassemia, Sickle Cell Anemia; bleeding disorders like Hemophilia; Primary Immune Deficiencies; Muscular Dystrophies and Myopathies; Neurological disorders; Inborn Errors of Metabolism and Lysosomal Storage disorders.

However, with the number of rare disease cases escalating in India, it is more likely that newer diseases will be profiled. Globally, Orphanet is the most comprehensive portal for rare diseases and orphan drugs. We encourage you to use the link below to explore the comprehensive list of rare diseases, genetic markers and corresponding drugs available.