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Platelet-Type Bleeding Disorder 14

Disease ID: disease_node_17063

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DbxrefMIM:614158
SubclassofDOID_0050736, DOID_2218
Data SourceDOID
SynonymsBDPLT14, thromboxane synthase deficiency
Doid Labelplatelet-type bleeding disorder 14
Doid DescriptionA blood platelet disease characterized by autosomal domit inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.
Has SymptomSYMP_0000007
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_17063
Doid IdDOID_0111047
LabelPlatelet-Type Bleeding Disorder 14