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 19 ID (Ontology) DOID:0111048 (Human Disease)
Definition A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.
Also Known As "BDPLT19" ; "severe autosomal recessive macrothrombocytopenia"
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 Genes
 platelet-type bleeding disorder 19       3
 for disease ribbon | platelet-type bleeding disorder 19       3
 model of | platelet-type bleeding disorder 19       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
blood coagulation disease        |
 |__blood platelet disease_______|
                                 platelet-type bleeding disorder 19  3 rec.
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Is a autosomal recessive disease
blood platelet disease
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Synonyms
  • "BDPLT19" EXACT OMO:0003012
    "severe autosomal recessive macrothrombocytopenia" EXACT
Secondary IDs
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ICD10CM:D69.4
MIM:616176
ORDO:438207