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Metadata
DOID DOID:0111058
Name platelet-type bleeding disorder 12
Definition An inherited blood coagulation 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.
https://www.ncbi.nlm.nih.gov/pubmed/8562397
Synonyms

BDPLT12 [EXACT]

PGHS1 deficiency [EXACT]

platelet COX1 deficiency [EXACT]

platelet cyclooxygenase 1 deficiency [EXACT]

platelet prostaglandin-endoperoxide synthase 1 deficiency [EXACT]

Xrefs

OMIM:605735

Relationships

is_a inherited blood coagulation disease

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