| Metadata | |
|---|---|
| ID | DOID:0111053 |
| Name | platelet-type bleeding disorder 15 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/23434115 |
| Xrefs | |
| Synonyms |
autosomal dominant macrothrombocytopenia ACTN1-related [EXACT] BDPLT15 [EXACT] |
| Parent Relationships |