platelet-type bleeding disorder 16

Summary

DOID:0060691 - platelet-type bleeding disorder 16

Disease Ontology Definition:A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.

Synonyms: autosomal dominant Glanzmann thrombasthenia, autosomal dominant thrombasthenia of Glanzmann and Naegeli

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

: itga2b, itgb3, itga2b.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008552 - platelet-type bleeding disorder 16

MONDO:0008552 - platelet-type bleeding disorder 16

MIM:

MIM:187800 - BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16

MIM:187800 - BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16

Other Model Organisms: Alliance, 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)