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Metadata
ID DOID:0111047
Name platelet-type bleeding disorder 14
Definition An inherited blood coagulation disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has material basis in mutation in the TBXAS1 gene on chromosome 7q34.
https://www.ncbi.nlm.nih.gov/pubmed/6268139
Xrefs

OMIM:614158

Synonyms

BDPLT14 [EXACT]

thromboxane synthase deficiency [EXACT]

Parent Relationships

is_a inherited blood coagulation disease

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