Disorder of Sexual Development

Alias:
Disorders of Sex Development
Sex Differentiation Disorders
Sex Differentiation Disease
Sex Development 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
性发育障碍,也被称为性发育障碍,与穆勒氏发育不全、高雄激素和生殖腺发育不良有关。与性发育障碍有关的重要基因是DMRT1(双性与Mab-3相关转录因子1),其相关通路/超级通路包括信号转导和神经系统发育。在该疾病的背景下提到了甲基睾酮和睾酮。附属组织包括子宫和睾丸,相关表型是shRNA丰度增加(Z-score>2)和内分泌/外分泌腺。
Related ID:
MESH:D012734

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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57
600
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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

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PMID
Journal
Year
IF
No Data Found!
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