Term Name: | platelet-type bleeding disorder 16 |
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Synonyms: | autosomal dominant Glanzmann thrombasthenia, autosomal dominant thrombasthenia of Glanzmann and Naegeli |
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. |
Ontology: | Human Disease [DOID:0060691] ( DOID:0060691 ) |