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Disease Ontology Browser
platelet-type bleeding disorder 19 (DOID:0111048)
Alliance: disease page
Synonyms: BDPLT19; severe autosomal recessive macrothrombocytopenia
Alt IDs: OMIM:616176, ICD10CM:D69.4, ORDO:438207
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
02/27/2024
MGI 6.23
The Jackson Laboratory