Term Name: platelet-type bleeding disorder 24
Synonyms: BDPLT24, glanzmann thrombasthenia-like with macrothrombocytopenia 2
Definition: A blood platelet disease characterized by an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis and that has_material_basis_in heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein alpha-III, on chromosome 17q21.32.
Ontology: Human Disease [DOID:0061330]   ( DOID:0061330 )

Relationships
is a type of: autosomal dominant disease blood platelet disease