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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
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Alias:
Rb-Ild
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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
呼吸性细支气管炎-间质性肺病综合征,也称为rb-ild),与间质性肺炎、剥脱性、家族性和细支气管炎有关。附属组织包括肺和淋巴结,相关表型为气短和肺气肿。
Related ID:
MALACARDS:RSP018
ICD11:822500243
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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成年期
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RSP018
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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