Angelman, Rett, and Prader-Willi Syndromes Consortium

• Angelman's Syndrome
• Rett Syndrome
• Prader-Willi Syndrome

Bone Marrow Failure Consortium

• Aplastic Anemia
• Myelodysplastic Syndromes
• Paroxysmal Nocturnal Hemoglobinuria (PNH)
• Large Granular Lymphocyte (LGL) Leukemia
• Single Lineage Cytopenias:
• - Pure Red Cell Aplasia
  - Amegakaryocytic Thrombocytopenic Purpura
  - Autoimmune Neutropenia

Cholestatic Liver Disease Consortium

• Alagille Syndrome
• Alpha-1 Antitrypsin Deficiency
• Bile Acid Synthesis Defects
• Mitochondrial Hepatopathies
• PFIC (Progressive Familial Intrahepatic Cholestasis)

Consortium for Clinical Investigation of Neurological Channelopathies

• Andersen-Tawil Syndrome (Periodic Paralysis)
• Episodic Ataxias
• Non-dystrophic Myotonic Disorders

Genetic Diseases of Mucociliary Clearance Consortium

• Primary Ciliary Dyskinesia (PCD)
• Cystic Fibrosis
• Pseudohypoaldosteronism (PHA)

Rare Lung Disease Consortium

• Hereditary Interstitial Lung Disease (hILD)
• Lymphangioleiomyomatosis (LAM)
• Pulmonary Alveolar Proteinosis (PAP)
• Alpha-1 Antitrypsin Deficiency (Alpha-1)

Rare Thrombotic Diseases Consortium

• Antiphospholipid Antibody Syndromes (APS)
• Heparin-induced Thrombocytopenia (HIT)
• Catastrophic Antiphospholipid Antibody Syndrome (Thrombotic Storm)
• Thrombotic Thrombocytopenic Purpura (TTP)
• Paroxysmal Nocturnal Hemoglobinuria (PNH)
• Other Thrombotic Disorders

Urea Cycle Disorders Consortium

• N-Acetylglutamate Synthase (NAGS) Deficiency
• Carbamyl Phosphate Synthetase (CPS) Deficiency
• Ornithine Transcarbamylase (OTC) Deficiency
• Argininosuccinate Synthetase Deficiency (Citrullinemia I)
• Citrin Deficiency (Citrullinemia II)
• Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria)
• Arginase Deficiency (Hyperargininemia)
• Ornithine Translocase Deficiency (HHH Syndrome)

Vasculitis Clinical Research Consortium

• Wegener’s Granulomatosis (WG)
• Microscopic Polyangiitis (MPA)
• Churg-Strauss Syndrome (CSS)
• Polyarteritis Nodosa (PAN)
• Takayasu's Arteritis (TAK)
• Giant Cell (Temporal) Arteritis (GCA)
  • 
    Polymyalgia Rheumatica (PMR)