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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
Pulmonary Hypoplasia, Primary
Alias:
Primary Pulmonary Hypoplasia
Congenital Absence of Lung
Congenital Absence of Lobe of Lung
Congenital Aplasia of Lung
Agenesis of Lobe of Lung
Absence of Lobe of Lung
Pulmonary Agenesis
Absence of Lung
Aplasia of Lung
Lung Agenesis
Apulmonism
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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
肺发育不全,原发性,又称原发性肺发育不全,与肺发育不全,家族性原发性和气管狭窄有关。与肺发育不全,原发性相关的重要基因是FGF10(成纤维细胞生长因子10)。附属组织包括肺和气管,相关表型为肺发育不全和新生儿呼吸窘迫。
Related ID:
MALACARDS:PLM182
OMIM:265430
ICD11:134836096
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
2
26
11
PLM182
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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