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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
非罕见病
Laryngostenosis
Alias:
Stenosis of Larynx
Laryngeal Stricture
Laryngeal Stenosis
Larynx Stricture
Larynx Narrowing
Larynx Stenosis
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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
喉狭窄,又称喉部狭窄,与弗雷泽综合症1和表皮松解性大疱性角化病有关。与喉狭窄有关的重要基因是FREM1(FRAS1相关外周基质1),其相关通路/超级通路包括C-MYB转录因子网络和输尿管集合系统发育。在该疾病的背景下提到了Curcumin和Ixekizumab这两种药物。相关组织包括气管和肾上腺皮质,相关表型为与Ras合成致死。
Related ID:
MALACARDS:LRY002
MESH:D007829
ICD11:803766116
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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6
47
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LRY002
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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