platelet-type bleeding disorder 17

Summary

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

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

: gfi1b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008553 - platelet-type bleeding disorder 17

MONDO:0008553 - platelet-type bleeding disorder 17

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)