Ehlers-Danlos Syndrome, Classic Type, 2 (EDSCL2)

Ehlers-Danlos Syndrome, Classic Type, 2(来自ICD-11)
别称:
Ehlers-Danlos Syndrome, Type Ii
Edscl2
Ehlers Danlos Syndrome, Mild Classic Type, Formerly
Ehlers Danlos Syndrome, Mitis Type, Formerly
Ehlers-Danlos Syndrome, Type Ii, Formerly
Ehlers-Danlos Syndrome Mild Classic Type
Ehlers-Danlos, Classic Syndrome, Type 2
Ehlers-Danlos Syndrome Classic Type 2
Ehlers-Danlos Syndrome Mitis Type
Ehlers-Danlos Syndrome Type 2
Ehlers-Danlos Syndrome 2
Eds Ii, Formerly
Eds2, Formerly
Eds Ii
Eds2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ehlers-Danlos Syndrome, Classic Type, 2, also known as ehlers-danlos syndrome, type ii, is related to nail-patella syndrome and classic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Classic Type, 2 is COL5A2 (Collagen Type V Alpha 2 Chain), and among its related pathways/superpathways are Nervous system development and Integrin Pathway. Affiliated tissues include skin and lung, and related phenotypes are congenital hip dislocation and talipes equinovarus
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基础信息

遗传方式
发病时间
患病率/发病率
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相关模型
参考文献
MALACARDS
AD
Unknown
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4
30
10

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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MGI
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文献报道

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