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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
Renal Osteodystrophy
Alias:
Renal Rickets
Chronic Kidney Disease-Mineral and Bone Disorder
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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
肾性骨病,也被称为肾性佝偻病,与骨纤维化和维生素D依赖性佝偻病有关。与肾性骨病相关的基因是PTH(甲状旁腺激素),其相关通路/超级通路包括蛋白质代谢和子宫肌松弛和收缩通路。在该疾病的背景下提到了苯佐卡因和唑来膦酸。附属组织包括肾脏和骨骼,相关表型是shRNA丰度增加(Z分数> 2)和稳态/代谢
Related ID:
MALACARDS:RNL011
MESH:D012080
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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17
161
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RNL011
Medical Symptom
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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
PMID
Journal
Year
IF
No Data Found!
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