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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
Heterotaxy, Visceral, 2, Autosomal (HTX2)
Alias:
Htx2
Heterotaxy, Visceral, Autosomal, Type 2
Htx
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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
异位性,内脏,2,常染色体,也称为 htx2,与内脏异位性和脑积水有关。与异位性,内脏,2,常染色体有关的重要基因是 CFC1(隐秘,EGF-CFC 家族成员 1)。附属组织包括脾脏和肝脏,相关表型包括肠旋转不良和右位心。
Related ID:
MALACARDS:HTR009
OMIM:605376
MESH:D059446
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
4
3
HTR009
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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