Branchiootorenal Syndrome 2 (BOR2)

Alias:
Bor2
Branchio-Oto-Renal Syndrome Type 2
Branchiootorenal Syndrome, Type 2
Branchio-Oto-Renal Dysplasia 2
Branchiootorenal Dysplasia 2
Bor Syndrome 2
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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
鳃肾耳综合征2,也称为bor2,与肌营养不良和鳃肾耳综合征1有关。与鳃肾耳综合征2有关的重要基因是SIX5(SIX同源盒5)。附属组织包括皮肤和肾脏,相关表型为听力障碍和肾功能不全。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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11
65
3

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

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PMID
Journal
Year
IF
No Data Found!
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