platelet-type bleeding disorder 16 (DOID:0060691)
Alliance: disease page
Synonyms: autosomal dominant Glanzmann thrombasthenia; autosomal dominant thrombasthenia of Glanzmann and Naegeli
Alt IDs: OMIM:187800, ICD10CM:D69.4, ORDO:140957
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.