Atrioventricular Septal Defect 2 (AVSD2)

Alias:
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
Atrioventricular Septal Defect, Susceptibility to, 2
Avsd2
Septal Defect, Atrioventricular, 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
心室间隔缺损2,也称为心室间隔缺损,部分,伴有异位性综合症,与3pter-p25染色体缺失综合症和心脏室间隔缺损有关。与心室间隔缺损2有关的重要基因是CRELD1(富含半胱氨酸的EGF样域1)。附属组织包括心脏和肺,相关表型为心室间隔缺损和右位心。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
8
10

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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