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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
Immunodeficiency 56 (IMD56)
Alias:
Il21r Immunodeficiency
Imd56
Combined Immunodeficiency Due to Il21r Deficiency
Cryptosporidiosis-Chronic Cholangitis-Liver Disease Syndrome
Autosomal Recessive Primary Immunodeficiency Il21r-Related
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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
免疫缺陷56,也称为il21r免疫缺陷。与免疫缺陷56有关的重要基因是IL21R(白介素21受体)。相关组织包括NK细胞和B细胞,相关表型包括反复呼吸道感染和反复中耳炎。
Related ID:
MALACARDS:IMM191
OMIM:615207
MESH:D007153
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
7
3
IMM191
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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