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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
Chronic Granulomatous Disease (CGD)
Alias:
Cgd
Granulomatous Disease, Chronic
Autosomal Recessive Chronic Granulomatous Disease
X-Linked Chronic Granulomatous Disease
Chronic Septic Granulomatosis
Granulomatous Disease, Chronic, X-Linked
Chronic Granulomatous Disorder
Granulomatous Disease Chronic
Congenital Dysphagocytosis
Bridges-Good Syndrome
Quie 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
慢性肉芽肿病,也称为 cgd,与肉芽肿病、慢性、常染色体隐性、2 和肉芽肿病、慢性、常染色体隐性、4 有关。与慢性肉芽肿病有关的重要基因是 NCF2(中性粒细胞胞质因子 2),其相关通路/超通路包括先天免疫系统和信号转导。在该疾病的背景下提到了烟酸和烟酰胺。附属组织包括皮肤和骨髓,相关表型为肝肿大和反复呼吸道感染。
Related ID:
MALACARDS:CHR012
MESH:D006105
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
X染色体
X显
婴儿期
1-9/1000000
64
693
108
CHR012
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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