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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
Intermittent Hydrarthrosis
Alias:
Intermittent Joint Effusion
Hydrops Articulorum Intermittens
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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
间歇性关节积液,又称为间歇性关节积液,与关节积液和回纹风湿病有关。与间歇性关节积液有关的重要基因是 MEFV(MEFV 先天免疫调节因子,Pyrin)。相关组织包括骨,相关表型为关节肿胀和膝关节异常。
Related ID:
MALACARDS:INT182
ICD11:1855039383
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
2
35
--
INT182
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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