Term Name: platelet-type bleeding disorder 16
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.
Ontology: Human Disease [DOID:0060691]   ( DOID:0060691 )

Relationships
is a type of: autosomal dominant disease blood platelet disease
disjoint_from: platelet-type bleeding disorder 8