Term Name: platelet-type bleeding disorder 19
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 )

Relationships
is a type of: autosomal recessive disease blood platelet disease