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SLC35A1-congenital disorder of glycosylation
An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. [from SNOMEDCT_US]
Decreased platelet glycoprotein Ib
Decreased platelet cell membrane concentration of glycoprotein Ib. [from HPO]
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