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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
Radioulnar Synostosis
Alias:
Radio-Ulnar Synostosis Type 1
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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
尺桡骨融合,也称为尺桡骨融合型1,与先天性尺桡骨融合和3mc综合征有关。与尺桡骨融合相关的基因是MECOM(MDS1和EVI1复合物位点),其相关通路/超级通路包括硫酸软骨素/硫酸皮肤素代谢和补体初始触发。附属组织包括骨髓和骨,相关表型为尺桡骨融合和前臂有限的旋前/旋后。
Related ID:
MALACARDS:RDL002
MESH:C562408
ICD11:1098526181
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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28
219
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RDL002
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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