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Echinobase
Summary Literature (0)
DOID:0111047 - platelet-type bleeding disorder 14


Disease Ontology 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.

Synonyms: BDPLT14, thromboxane synthase deficiency,

Echinobase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), blood platelet disease (is_a), inherited blood coagulation disease (is_a)