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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
Mitchell-Riley Syndrome (MTCHRS)
Alias:
Mtchrs
Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia
Diabetes Neonatal with Pancreatic Hypoplasia Intestinal Atresia and Gallbladder Aplasia or Hypoplasia
Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbalder Syndrome
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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
米切尔-莱利综合症,也称为mtchrs,与马丁内斯-弗里亚斯综合症和新生儿糖尿病有关,症状包括腹泻。与米切尔-莱利综合症有关的重要基因是RFX6(调节因子X6)。相关组织包括胰腺,相关表型为糖尿病和十二指肠闭锁。
Related ID:
MALACARDS:MTC096
OMIM:615710
MESH:D004066
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
5
11
MTC096
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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