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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
Diaphragmatic Hernia 3 (DIH3)
Alias:
Dih3
Hernia, Diaphragmatic, Type 3
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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
膈疝3,也称为dih3,与膈疝、先天性和肠膨出有关。与膈疝3有关的重要基因是ZFPM2(锌指蛋白,FOG家族成员2)。附属组织包括气管和肺,相关表型为先天性膈疝。
Related ID:
MALACARDS:DPH016
OMIM:610187
MESH:D065630
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
8
8
DPH016
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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