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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
Recurrent Corneal Erosion
Alias:
Recurrent Erosion of Cornea
Recurrent Erosion Syndrome
Non-Traumatic Recurrent Erosion of Cornea
Corneal Erosion
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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
复发性角膜侵蚀,又称复发性角膜侵蚀,与角膜上皮复发性侵蚀性营养不良和遗传性角膜炎有关。与复发性角膜侵蚀有关的重要基因是TGFBI(转化生长因子β诱导),其相关通路/超通路包括细胞外基质组织和关节软骨细胞外基质。在该疾病的背景下提到了弗拉霉素和多粘菌素B。附属组织包括眼睛和皮肤,相关表型是视力/眼睛。
Related ID:
MALACARDS:RCR001
ICD11:966233826
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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15
115
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RCR001
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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