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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
非罕见病
Adrenal Cortical Hypofunction
Alias:
Adrenal Cortical Insufficiency
Corticoadrenal Insufficiency
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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
肾上腺皮质功能减退症,又称肾上腺皮质功能不全,与早发性卵巢功能不全7和achalasia-addisonianism-alacrima综合征有关。与肾上腺皮质功能减退症相关的重要基因是NR0B1(核受体亚家族0组B成员1),其相关通路/超级通路包括类固醇代谢和类固醇激素代谢。附属组织包括肾上腺皮质和皮质,相关表型包括减少的乳腺泡形成和稳态/代谢
Related ID:
MALACARDS:ADR010
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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29
298
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ADR010
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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