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platelet-type bleeding disorder 9
Summary
- Synonym
-
- BDPLT9
- GP Ia deficiency
- collagen platelet receptor deficiency
- glycoprotein 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.
- Super Class
- autosomal dominant disease blood platelet disease
External Links
- Disease Ontology
- DOID:0111045
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16442 | Histo-blood group ABO system transferase | |
| P27824 | Calnexin | |
| P30101 | Protein disulfide-isomerase A3 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
