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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
Neonatal Alloimmune Neutropenia
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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
新生儿同种免疫性中性粒细胞减少症与中性粒细胞减少和双胞胎,异卵双胞胎有关。与新生儿同种免疫性中性粒细胞减少症有关的重要基因是 FCGR3B(Fc Gamma Receptor IIIb)。相关组织包括中性粒细胞,相关表型是在存在抗中性粒细胞抗体的情况下出现的中性粒细胞减少和抗中性粒细胞抗体阳性。
Related ID:
MALACARDS:NNT054
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
1-5/10000
1
6
--
NNT054
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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