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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
Sympathetic Ophthalmia
Alias:
Sympathetic Uveitis
Ophthalmia, Sympathetic
Sympathetic Endophthalmitis
Sympathetic Iridocyclitis
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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
同情性眼炎,又称同情性葡萄膜炎,与结膜炎和内眼炎有关,症状包括视力模糊。同情性眼炎相关的重要基因是RBP3(视黄醇结合蛋白3),其相关通路/超级通路包括先天免疫系统和MIF介导的糖皮质激素调节。附属组织包括眼睛和视网膜,相关表型包括视力减退和白内障。
Related ID:
MALACARDS:SYM002
MESH:D009879
ICD11:1391518285
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
<1/1000000
15
318
--
SYM002
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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