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 8 ID (Ontology) DOID:0060692 (Human Disease)
Definition A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.
Also Known As "ADP platelet receptor P2Y12 defect" ; "P2Y12 defect"
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autosomal genetic disease
 |__autosomal recessive disease__
blood coagulation disease        |
 |__blood platelet disease_______|
                                 platelet-type bleeding disorder 8
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Is a autosomal recessive disease
blood platelet disease
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Synonyms
  • "ADP platelet receptor P2Y12 defect" EXACT
    "P2Y12 defect" EXACT
Secondary IDs
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ICD10CM:D69.8
MIM:609821
ORDO:36355