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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
Neutropenia, Severe Congenital, 9, Autosomal Dominant (SCN9)
Alias:
Scn9
Neutropenia, Severe Congenital 9, Autosomal Dominant
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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
中性粒细胞减少症,严重先天性,9号,常染色体显性,也称为SCN9,与CLPB缺乏和3-甲基谷氨酸尿症,类型VIIA有关。与严重先天性中性粒细胞减少症,9号,常染色体显性相关的基因是CLPB(ClpB家族线粒体解聚酶)。相关组织包括骨髓和髓系,相关表型为髓系成熟停滞和癫痫发作。
Related ID:
MALACARDS:NTR056
OMIM:619813
MESH:D009503
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
4
1
NTR056
Medical Symptom
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Description
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Orphanet Frequency
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Gene & Mutation
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Name
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No data available
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Category
Name
MGI
Related Gene
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