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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
Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies
Alias:
Primary Ild Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies
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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
儿童特发性肺间质病,由于肺表面活性蛋白异常,也称为儿童特发性肺间质病,由于肺表面活性蛋白异常,与表面活性剂功能障碍有关。与儿童特发性肺间质病,由于肺表面活性蛋白异常有关的重要基因是ABCA3(ATP结合盒亚家族A成员3)。附属组织包括肺。
Related ID:
MALACARDS:PRM166
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
10
20
PRM166
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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