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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Polycythemia
Alias:
Polycythaemia Due to High Altitude
Polycythemia Vera
Erythrocythemia
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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
多血症,又称为高原多血症,与获得性多血症和应激性多血症有关。与多血症有关的重要基因是JAK2(Janus Kinase 2),与其相关的途径/超级途径包括信号转导和TGF-β途径。在该疾病的背景下提到了醋唑磺胺和帕诺布诺司特。附属组织包括骨髓和骨,相关表型为稳态/新陈代谢和生长/大小/身体部位
Related ID:
MALACARDS:PLY018
MESH:D011086
ICD11:1211987132
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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43
537
1
PLY018
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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