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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
Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism 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
甲状腺激素代谢缺陷引起的身材矮小延迟骨龄与甲状腺激素代谢异常有关。与甲状腺激素代谢缺陷引起的身材矮小延迟骨龄有关的重要基因是SECISBP2(SECIS结合蛋白2)。相关组织包括甲状腺和骨,相关表型为异常循环酶浓度或活性和循环游离t3减少。
Related ID:
MALACARDS:SHR077
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
8
2
SHR077
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
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Journal
Year
IF
No Data Found!
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