Bleeding Disorder, Platelet-Type, 13 (BDPLT13)

Alias:
Bleeding Diathesis Due to Thromboxane Synthesis Deficiency
Bleeding Disorder Due to Defective Platelet Thromboxane A2 Receptor
Bdplt13
Bleeding Disorder, Susceptibility to, Due to Defective Platelet Thromboxane A2 Receptor
Bleeding Disorder, Platelet-Type, 13, Susceptibility to
Bleeding Disorder, Platelet Type 13, Susceptibility to
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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
血栓素合成缺陷性出血症,13型,又称血栓素合成缺陷性出血症。与血栓素合成缺陷性出血症,13型有关的重要基因是TBXA2R(血栓素A2受体)。相关组织包括骨髓和骨,相关表型为血栓素a2激动剂诱导的血小板聚集障碍和鼻出血。
Related ID:
MESH:D001791
ICD11:1676860885

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
7
8

Medical Symptom

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

Gene & Mutation

#
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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