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Metadata
ID DOID:0111047
Name platelet-type bleeding disorder 14
Definition A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, 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

MIM:614158

Synonyms

BDPLT14 [EXACT]

thromboxane synthase deficiency [EXACT]

Parent Relationships

is_a blood platelet disease

is_a autosomal dominant disease

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