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| Term | platelet-type bleeding disorder 20 | ID (Ontology) | DOID:0111055 (Human Disease) |
| Definition | A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. | ||
| Also Known As | "autosomal dominant thrombocytopenia with platelet secretion defect" ; "BDPLT20" | ||
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autosomal genetic disease |__autosomal dominant disease__ blood coagulation disease | |__blood platelet disease______| platelet-type bleeding disorder 20 |
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autosomal dominant disease blood platelet disease |
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MIM:616913 ORDO:466806 |
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