platelet-type bleeding disorder 16

Term ID

DOID:0060691

Synonyms

• autosomal dominant Glanzmann thrombasthenia
• autosomal dominant thrombasthenia of Glanzmann and Naegeli

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. (3)

References

• ICD10CM:D69.4
• MIM:187800
• ORDO:140957

Ontology

Human Disease   ( DOID:0060691 )