Desbuquois Dysplasia 2 (DBQD2)

Alias:
Baratela-Scott Syndrome
Dbqd2
Dysplasia, Desbuquois, Type 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
Desbuquois Dysplasia 2,也被称为Baratela-Scott综合症,与Desbuquois Dysplasia 1和Scott综合症有关。与Desbuquois Dysplasia 2相关的基因是XYLT1(木糖转移酶1)。附属组织包括骨和皮肤,相关表型为股骨外翻和宽脚。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
6
5

Medical Symptom

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No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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No Data Found!
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