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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
出血障碍,血小板型,8,又称p2ry12缺陷引起的出血障碍,与p2y12缺陷引起的出血障碍和尼佐尼-伊佐尔综合征有关。与出血障碍,血小板型,8有关的重要基因是P2RY12(Purinergic Receptor P2Y12),其相关通路/超级通路包括嘌呤能信号转导和血小板聚集抑制通路,药理学。附属组织包括骨髓和骨,相关表型为鼻出血和易瘀伤。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
11
77
5

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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