Term Name: | platelet-type bleeding disorder 19 |
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Synonyms: | BDPLT19, severe autosomal recessive macrothrombocytopenia |
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. |
Ontology: | Human Disease [DOID:0111048] ( DOID:0111048 ) |