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DOID DOID:0060340
Name ciliopathy
Definition A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
http://en.wikipedia.org/wiki/Ciliopathy, https://www.ncbi.nlm.nih.gov/pubmed/18178628, https://www.ncbi.nlm.nih.gov/pubmed/21210154
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is_a syndrome

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