Bleeding Disorder, Platelet-Type, 8 (BDPLT8)

Alias:
Bleeding Disorder Due to P2ry12 Defect
Platelet-Type Bleeding Disorder 8
Bdplt8
Adp Platelet Receptor P2y12 Deficiency
Adp Platelet Receptor P2y12 Defect
Bleeding Disorder, Platelet Type 8
P2ry12 Deficiency
P2y12 Deficiency
P2y12 Defect
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bleeding Disorder, Platelet-Type, 8, also known as bleeding disorder due to p2ry12 defect, is related to bleeding disorder due to p2y12 defect and nizon-isidor syndrome. An important gene associated with Bleeding Disorder, Platelet-Type, 8 is P2RY12 (Purinergic Receptor P2Y12), and among its related pathways/superpathways are Purinergic signaling and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include bone marrow and bone, and related phenotypes are epistaxis and bruising susceptibility
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
11
77
5

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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