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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
Laryngomalacia
Alias:
Congenital Laryngomalacia
Floppy Epiglottis
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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
喉软化症,又称先天性喉软化症,与获得性喉软化症和睡眠呼吸暂停有关。与喉软化症有关的重要基因是WFS1(沃尔夫林ER跨膜糖蛋白)。在该疾病的背景下,提到的药物有布洛芬和对乙酰氨基酚。附属组织包括舌和心脏,相关表型为喉软化症和声音异常
Related ID:
MALACARDS:LRY029
OMIM:150280
ICD11:64182721
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
20
224
3
LRY029
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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