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DOID:0060691 - platelet-type bleeding disorder 16
Disease Ontology Definition:A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
Synonyms: autosomal dominant Glanzmann thrombasthenia, autosomal dominant thrombasthenia of Glanzmann and Naegeli,
Xenbase Genes : itga2b.1, itgb3, itga2b.2
MONDO:0008552 - platelet-type bleeding disorder 16 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee