Disease-gene associations mined from literature

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 ...