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platelet-type bleeding disorder 8
Summary
- Synonym
-
- ADP platelet receptor P2Y12 defect
- P2Y12 defect
- Definition
- A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.
- Super Class
- autosomal recessive disease blood platelet disease
External Links
- Disease Ontology
- DOID:0060692
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
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 |
