platelet-type bleeding disorder 19

Summary

DOID:0111048 - platelet-type bleeding disorder 19

Disease Ontology 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.

Synonyms: BDPLT19, severe autosomal recessive macrothrombocytopenia,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014518 - platelet-type bleeding disorder 19

MONDO:0014518 - platelet-type bleeding disorder 19

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), blood platelet disease (is_a)