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Metadata
ID	DOID:0111048
Name	platelet-type bleeding disorder 19
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. https://www.ncbi.nlm.nih.gov/pubmed/25061177
Xrefs	ICD10CM:D69.4 OMIM:616176 ORDO:438207
Subsets	DO_rare_slim
Synonyms	BDPLT19 [EXACT] severe autosomal recessive macrothrombocytopenia [EXACT]
Parent Relationships	is_a blood platelet disease is_a autosomal recessive disease