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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
Hereditary Central Diabetes Insipidus
Alias:
Hereditary Neurogenic Diabetes Insipidus
Hereditary Cdi
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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
遗传性中枢性尿崩症,又称遗传性神经性尿崩症,与尿崩症、神经垂体性和中枢性尿崩症有关。与遗传性中枢性尿崩症有关的重要基因是AVP(精氨酸加压素)。相关组织包括垂体,相关表型为多饮和尿崩症
Related ID:
MALACARDS:HRD156
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X隐
常隐
常显
X染色体
孩童期
--
1
8
24
HRD156
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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