platelet-type bleeding disorder 9

Summary

DOID:0111045 - platelet-type bleeding disorder 9

Disease Ontology Definition:A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.

Synonyms: BDPLT9, GP Ia deficiency, collagen platelet receptor deficiency, glycoprotein Ia deficiency,

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

: itga2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013622 - platelet-type bleeding disorder 9

MONDO:0013622 - platelet-type bleeding disorder 9

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)