Term Name: platelet-type bleeding disorder 21
Synonyms: BDPLT21
Definition: A blood platelet disease characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists and that has_material_basis_in heterozygous mutation in the FLI1 gene on chromosome 11q24.3.
Ontology: Human Disease [DOID:0061328]   ( DOID:0061328 )

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