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DOID:0111048 - platelet-type bleeding disorder 19
Disease Ontology Definition:An inherited blood coagulation 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: BDPLT19, severe autosomal recessive macrothrombocytopenia,
Echinobase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
inherited blood coagulation disease (is_a)