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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
7q31 Microdeletion Syndrome
Alias:
Monosomy 7q31
Del(7)(q31)
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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
7q31微缺失综合症,也被称为7q31单体,与肥大细胞增多症、皮肤和肥大细胞白血病有关。与7q31微缺失综合症相关的重要基因是FOXP2(叉头框P2)。相关组织包括嗅球和骨骼肌,相关表型为语言发育延迟和语言障碍以及言语失用症。
Related ID:
MALACARDS:7Q3001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
<1/1000000
1
15
--
7Q3001
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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