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Date: Tue Jan 28 2025
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platelet-type bleeding disorder 12
DOID:0111058
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
platelet-type bleeding disorder 12
Definition
A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
[1]
Synonyms
BDPLT12
PGHS1 deficiency
Show All 5
Cross References
MIM:605735
Parent Terms
autosomal dominant disease
blood platelet disease
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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