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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
非罕见病
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias (IMD99)
Alias:
Imd99
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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99伴低γ球蛋白血症和自身免疫性血小板减少症,也称为imd99。与免疫缺陷99伴低γ球蛋白血症和自身免疫性血小板减少症有关的重要基因是CTNNBL1(β连环蛋白类似物1)。相关组织包括B细胞和T细胞,相关表型包括生长延迟和白癜风。
Related ID:
MALACARDS:IMM268
OMIM:619846
MESH:D007153
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
5
1
IMM268
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Mutations
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Name
CAS Number
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No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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