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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
非罕见病
Dehydrated Hereditary Stomatocytosis 2 (DHS2)
Alias:
Desiccytosis Gardos
Xerocytosis Gardos
Dhs2
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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
脱水遗传性口渴症2,也称为干渴症加多斯。与脱水遗传性口渴症2相关的基因是KCNN4(钾钙激活通道N亚家族成员4)。相关组织包括脾脏和骨髓,相关表型为脾肿大和溶血性贫血。
Related ID:
MALACARDS:DHY015
OMIM:616689
MESH:D000745
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
6
8
DHY015
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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