Proximal Symphalangism

Alias:
Symphalangism, Proximal
Symphalangism, Cushing Type
Cushing's Symphalangism
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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
近端对趾症,也称为对趾症、近端,与短指型B1和多关节融合综合征有关。与近端对趾症相关的重要基因是NOG(Noggin),其相关通路/超级通路包括ERK信号通路和Akt信号通路。相关组织包括骨和皮肤,相关表型包括手指屈曲和腕骨融合。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
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20
149
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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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