platelet-type bleeding disorder 21

Term ID

DOID:0061328

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. https://pubmed.ncbi.nlm.nih.gov/28255014/

References

• MIM:617443
• ORDO:248340
• UMLS_CUI:C0032197

Ontology

Human Disease   ( DOID:0061328 )