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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
Tracheomalacia
Alias:
Congenital Tracheomalacia
Congenital Major Airway Collapse
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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
气管软化症,又称先天性气管软化症,与喉软化症和纵隔炎有关。与气管软化症相关的基因是ANO1(Anoctamin 1),其相关通路/超通路包括肝ABC转运体和离子通道转运。相关组织包括气管和皮肤,相关表型为气管软化症和异常气管软骨
Related ID:
MALACARDS:TRC097
MESH:C557675
ICD11:1616705280
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
婴儿期
--
21
235
--
TRC097
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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