Term Name: | platelet-type bleeding disorder 15 |
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Synonyms: | autosomal dominant macrothrombocytopenia ACTN1-related, BDPLT15 |
Definition: | A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. |
Ontology: | Human Disease [DOID:0111053] ( DOID:0111053 ) |