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Refine by Category Hemolytic uremic syndrome atypical 2 1 WHIM syndrome 1 Ichthyosis-sclerosing cholangitis neonatal syndrome 1 Amelogenesis imperfecta 1H 1 Immunodeficiency 16 1 Asplenia, isolated congenital 1 Immunodeficiency 46 1 Basal ganglia calcification, idiopathic, 1 1 Immunodeficiency, common variable, 6 1 Basal ganglia calcification, idiopathic, 6 1 Immunodeficiency, common variable, 7 1 Bleeding disorder, platelet-type 16 1 Inflammatory skin and bowel disease, neonatal, 2 1 Brown-Vialetto-Van Laere syndrome 2 1 Lung cancer 1 Cataract 6, multiple types 1 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 1 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 1 Muscular dystrophy-dystroglycanopathy limb-girdle C9 1 Diabetes mellitus, insulin-dependent, 22 1
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