Human genes for platelet-type bleeding disorder 19
Platelet-type bleeding disorder 19 [DOID:0111048]
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.
Synonyms: platelet-type bleeding disorder 19, DOID:0111048, platelettype bleeding disorder 19, BDPLT19, severe autosomal recessive macrothrombocytopenia ...