P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. [ Orphanet:36355 ]
Synonyms: ADP platelet receptor P2Y12 defect platelet-type bleeding disorder 8 P2Y12 defect
Term information
- SCTID:725291001 (MONDO:equivalentTo)
- Orphanet:36355 (OMIM:609821)
- UMLS:C1853278 (Orphanet:36355)
- OMIM:609821 (Orphanet:36355/e)
- GARD:12478 (Orphanet:36355)
- MESH:C565220 (MONDO:equivalentTo)
- DOID:0060692 (MONDO:equivalentTo)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
http://identifiers.org/mesh/C565220
http://identifiers.org/snomedct/725291001
http://www.orpha.net/ORDO/Orphanet_36355
http://linkedlifedata.com/resource/umls/id/C1853278
https://omim.org/entry/609821
http://purl.obolibrary.org/obo/DOID_0060692
BDPLT8
bleeding disorder, platelet-type 8
bleeding disorder due to P2Ry12 defect
bleeding disorder, platelet-type, 8
bleeding disorder due to P2Rx1 defect, somatic