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platelet-type bleeding disorder 11
Summary
- Synonym
-
- BDPLT11
- GP VI deficiency
- glycoprotein 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.
- Super Class
- autosomal recessive disease blood platelet disease
External Links
- Disease Ontology
- DOID:0111057
- 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 |
