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bn:09029393n
Noun Named Entity
JA
No term available
EN
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. Wikidata
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IS A
血小板疾患
EN
Inherited giant platelet disorder
HAS KIND
メイ・ヘグリン異常症
EN
Sebastian syndrome
エプスタイン症候群
EN
Fechtner syndrome

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