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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
Osteomalacia
Alias:
Adult Rickets
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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
骨软化症,也被称为成人软骨病,与低磷酸酶血症、成人和范可尼肾小管-肾小球病2有关。与骨软化症相关的基因是DMP1(牙本质酸性磷蛋白1),其相关通路/超级通路包括软骨内骨化和骨骼发育不良以及维生素D受体通路。在该疾病的背景下提到了甲状旁腺激素和胆骨化醇。附属组织包括骨和肾,相关表型是稳态/代谢和肾/尿系统。
Related ID:
MALACARDS:OST011
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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26
253
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OST011
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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