FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term platelet-type bleeding disorder 15 ID (Ontology) DOID:0111053 (Human Disease)
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.
Also Known As "autosomal dominant macrothrombocytopenia ACTN1-related" ; "BDPLT15"
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 Genes
 platelet-type bleeding disorder 15       1
 for disease ribbon | platelet-type bleeding disorder 15       1
 model of | platelet-type bleeding disorder 15       1
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autosomal genetic disease
 |__autosomal dominant disease__
blood coagulation disease       |
 |__blood platelet disease______|
                                platelet-type bleeding disorder 15  1 rec.
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Is a autosomal dominant disease
blood platelet disease
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Synonyms
  • "autosomal dominant macrothrombocytopenia ACTN1-related" EXACT
    "BDPLT15" EXACT OMO:0003012
Secondary IDs
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MIM:615193