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Rare diseases / Orphan diseases

(Ronald Cornet) #1

Dear all,
Does anyone know of any sites having rare disease (orphan disease) data represented in OMOP? This can either be clinical data or registry data, and may or may not involve information regarding newborn genetic screening, about “controls” (i.e., non-cases), and may focus on specific types of rare diseases, or be broadly defined. Happy to hear what already exists and what interest there is in this topic.