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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, Nonsyndromic (RUS)
Alias:
Radioulnar Synostosis, Nonsyndromic, Susceptibility to
Rus
Radioulnar Synostosis, Non-Syndromic
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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
桡尺融合,非综合征性,也称为 rus,与人类巨细胞病毒感染和鼠疫有关。与桡尺融合,非综合征性相关的基因是 SMAD6(SMAD 家族成员 6)。
Related ID:
MALACARDS:RDL040
OMIM:179300
MESH:D013580
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
6
8
RDL040
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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