Congenital Short Bowel Syndrome (CSBS)

Congenital Short Bowel Syndrome(来自ICD-11)
别称:
Congenital Short Bowel
Csbs
Congenital Short Bowel Syndrome, Autosomal Recessive
Congenital Short Bowel and Malrotation Syndrome
Bowel, Short, Syndrome, Congenital
Intestinal Pseudo-Obstruction
Csbm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Short Bowel Syndrome, also known as congenital short bowel, is related to intestinal pseudo-obstruction and short bowel syndrome. An important gene associated with Congenital Short Bowel Syndrome is CLMP (CXADR Like Membrane Protein). The drugs Gastrointestinal Agents and Laxatives have been mentioned in the context of this disorder. Affiliated tissues include small intestine and liver, and related phenotypes are intestinal hypoplasia and short stature
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相关ID:
MESH:D012778
ICD11:1672462112

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
XL
XLD
Newborn
<1/1000000
2
12
8

疾病表征

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分类
表征
HPO概率
Orphanet概率
HPO来源
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基因 & 突变

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靶点药物

药物名称
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研发状态
临床阶段
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疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
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文献报道

标题
PMID
期刊
年代
IF
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