Biliary, Renal, Neurologic, and Skeletal Syndrome (BRENS)

Alias:
Brens Syndrome
Brens
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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
胆肾神经骨骼综合症,也被称为布伦斯综合症。与胆肾神经骨骼综合症相关的基因是IFT56(纤毛内运输56)。相关组织包括垂体和肝脏,相关表型是前额突出和肌张力减退
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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5

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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