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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
Isolated Thyroid-Stimulating Hormone Deficiency
Alias:
Isolated Thyrotropin Deficiency
Isolated Tsh Deficiency
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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
孤立性促甲状腺激素缺乏症,也称为孤立性促甲状腺激素缺乏症,与4型先天性非胶质性甲状腺功能减退症和1型先天性非胶质性甲状腺功能减退症有关。与孤立性促甲状腺激素缺乏症有关的重要基因是TSHB(促甲状腺激素亚基β)。相关组织包括甲状腺和垂体,相关表型为甲状腺发育不良和垂体甲状腺功能减退症。
Related ID:
MALACARDS:ISL090
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
3
10
ISL090
Medical Symptom
#
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
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
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IF
No Data Found!
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