platelet-type bleeding disorder 14

Summary

DOID:0111047 - platelet-type bleeding disorder 14

Disease Ontology Definition:A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.

Synonyms: BDPLT14, thromboxane synthase 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

: tbxas1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013597 - platelet-type bleeding disorder 14

MONDO:0013597 - platelet-type bleeding disorder 14

MIM:

MIM:614158 - BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14

MIM:614158 - BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14

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)