Term Name: Glanzmann thrombasthenia 2
Synonyms: BDPLT23, GT2, platelet-type bleeding disorder 23
Definition: A blood platelet disease characterized by failure of platelet aggregation and by absent or diminished clot retraction and that has_material_basis_in homozygous or compound heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein IIIa, on chromosome 17q21.32.
Ontology: Human Disease [DOID:0061332]   ( DOID:0061332 )

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