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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
罕见病
Mitochondrial Dna Depletion Syndrome 20 (MTDPS20)
Alias:
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome, Lig3-Related
Mtdps20
Mitochondrial Dna Depletion Syndrome 20, Mngie Type
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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
线粒体DNA耗竭综合症20,也被称为线粒体神经胃肠脑病综合症,LIG3相关。与线粒体DNA耗竭综合症20相关的基因是LIG3(DNA连接酶3)。相关组织包括大脑,相关表型包括头痛和肠假性梗阻。
Related ID:
MALACARDS:MTC236
OMIM:619780
MESH:D017237
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
4
2
MTC236
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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