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platelet-type bleeding disorder 15
Summary
- Synonym
-
- BDPLT15
- autosomal dominant macrothrombocytopenia ACTN1-related
- 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.
- Super Class
- autosomal dominant disease blood platelet disease
External Links
- Disease Ontology
- DOID:0111053
- Mondo Disease Ontology
- OMIM
