Term Name: | platelet-type bleeding disorder 9 |
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Synonyms: | BDPLT9, collagen platelet receptor deficiency, glycoprotein Ia deficiency, GP Ia deficiency |
Definition: | A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. |
Ontology: | Human Disease [DOID:0111045] ( DOID:0111045 ) |