Term Name: | platelet-type bleeding disorder 11 |
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Synonyms: | BDPLT11, glycoprotein VI deficiency, GP VI deficiency |
Definition: | A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0111057] ( DOID:0111057 ) |