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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
Epithelial Recurrent Erosion Dystrophy (ERED)
Alias:
Ered
Corneal Erosions, Recurring Hereditary
Recurrent Hereditary Corneal Erosions
Recurrent Corneal Erosion Syndrome
Recurrent Erosion of Cornea
Dystrophia Helsinglandica
Dystrophia Smolandiensis
Col17a1
Rces
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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
表皮复发性侵蚀性营养不良,也称为 ered,与非赫尔茨型交界性表皮剥脱症和交界性表皮剥脱症、交界性 4、中间型有关,症状包括疼痛和畏光。与表皮复发性侵蚀性营养不良有关的重要基因是 COL17A1(胶原蛋白型 XVII alpha 1 链)。在该疾病的背景下,提到了麻醉药和全身麻醉药。附属组织包括眼睛和皮肤,相关表型为进行性视觉丧失和角膜营养不良。
Related ID:
MALACARDS:EPT021
OMIM:122400
MESH:C565155
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
18
229
10
EPT021
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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