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DOID:0111049 - platelet-type bleeding disorder 17
Disease Ontology Definition:A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
Synonyms: BDPLT17, hereditary thrombasthenia-thrombocytopenia,
Echinobase Genes
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| MIM:187900 - bleeding disorder, platelet-type, 17; bdplt17 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
blood platelet disease (is_a),
inherited blood coagulation disease (is_a)