platelet-type bleeding disorder 11

Term ID

DOID:0111057

Synonyms

• BDPLT11
• glycoprotein VI deficiency
• GP VI deficiency

Definition

A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. (2)

References

• ICD10CM:D69.8
• MIM:614201
• ORDO:98885

Ontology

Human Disease   ( DOID:0111057 )