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Disease Ontology Browser
platelet-type bleeding disorder 20 (DOID:0111055)
Alliance: disease page
Synonyms: autosomal dominant thrombocytopenia with platelet secretion defect; BDPLT20
Alt IDs: OMIM:616913, ORDO:466806
Definition: A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.

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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory