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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 103 Fungal Infections (IMD103)
Alias:
Predisposition to Invasive Fungal Disease Due to Card9 Deficiency
Candidiasis, Familial, 2
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive
Immunodeficiency 103, Susceptibility to Fungal Infections
Card9 Immunodeficiency
Imd103
Candf2
Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive
Familial Chronic Mucocutaneous Candidiasis Autosomal Recessive
Immunodeficiency 103, Susceptibility to Fungal Infection
Invasive Candidiasis-Deep Dermatophytosis Syndrome
Familial Chronic Mucocutaneous Candidiasis
Immunodeficiency 103 Fungal Infection
Candidiasis, Familial, Type 2
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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103真菌感染,也称为CARD9缺陷导致的易感侵袭性真菌病,与8号染色体上的家族性念珠菌病和51号染色体上的免疫缺陷有关。与免疫缺陷103真菌感染相关的基因是CARD9(半胱氨酸天冬氨酸蛋白酶招募域家族成员9)。相关组织包括皮肤和大脑,相关表型包括脑膜炎和循环IgE水平升高。
Related ID:
MALACARDS:IMM274
OMIM:212050
MESH:D002178
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
8
17
IMM274
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
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Publications
No data available
References Literature
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IF
No Data Found!
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