platelet-type bleeding disorder 9

Term ID

DOID:0111045

Synonyms

• BDPLT9
• collagen platelet receptor deficiency
• glycoprotein Ia deficiency
• GP Ia deficiency

Definition

A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. (2)

References

• ICD10CM:D69.8
• OMIM:614200
• ORDO:98886

Ontology

Human Disease   ( DOID:0111045 )