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platelet-type bleeding disorder 22 (DOID:0061329)
Alliance: disease page
Synonyms: BDPLT22
Alt IDs: OMIM:618462
Definition: A blood platelet disease characterized by impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries and that has_material_basis_in homozygous mutation in the EPHB2 gene on chromosome 1p36.12.

Contributing Projects:
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
09/08/2026
MGI 6.24 		The Jackson Laboratory