Term Name: | platelet-type bleeding disorder 20 |
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Synonyms: | autosomal dominant thrombocytopenia with platelet secretion defect, BDPLT20 |
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. |
Ontology: | Human Disease [DOID:0111055] ( DOID:0111055 ) |