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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
Primary Sjögren Syndrome
Alias:
Primary Sjögren-Gougerot Syndrome
Primary Sjogren-Gougerot Syndrome
Sjogrens Syndrome Primary
Primary Sjogren Syndrome
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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
原发性舍格伦综合症,又称原发性舍格伦-戈格里综合症,与泪腺和唾液腺的萎缩以及红斑狼疮有关。与原发性舍格伦综合症相关的重要基因是RO60(Ro60,Y RNA结合蛋白)。在该疾病的背景下,提到的药物有柠檬酸钠和氟化钠。附属组织包括皮肤和胰腺,相关表型为干眼症和口干症。
Related ID:
MALACARDS:PRM294
ICD11:899463360
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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6
39
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PRM294
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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