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ID | DOID:0060651 |
Name | MYH-9 related disease |
Definition | A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. https://ghr.nlm.nih.gov/condition/myh9-related-disorder, https://www.ncbi.nlm.nih.gov/pubmed/21567368 |
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DO_rare_slim |
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