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Table 1 Rare Disease Registries[29]

From: Reducing selection bias in case-control studies from rare disease registries

Lysosomal Storage Diseases with Registries Examples of Rare Diseases with Registries
• Fabry disease • Adrenocortical Tumors
• Gaucher disease • Alport Syndrome
• Hunter syndrome • Epidermolysis Bullosa
• Mucopolysacchiridosis (MPS) type 1 • Inflammatory Breast Cancer
• Pompe disease • Juvenile Rheumatoid Arthritis
  • Neuroendocrine Tumors
  • Neurological Autoimmune Disease
  • Neutropenia
  • Primary Ciliary Dyskines
  • Primary & Secondary Immunodeficiency
  • Smith Magenis Syndrome
  • Thrombotic Thrombocytopenia Purpura
  • Unexplained Cardiac Arrest
  • Vascular Anomalies Associated with Coagulapathy
  • Wilms Tumor Suppressor Gene Mutation (WT1) Associated Diseases