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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
Ovarian Dysgenesis 2 (ODG2)
Alias:
Premature Ovarian Failure 4
Odg2
Ovarian Failure, Hypergonadotropic, Due to Ovarian Dysgenesis
Ovarian Failure Hypergonadotropic Due to Ovarian Dysgenesis
Ovarian Dysgenesis, Hypergonadotropic, X-Linked
X-Linked Hypergonadotropic Ovarian Dysgenesis
Dysgenesis, Ovarian, Type 2
Pof4
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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
卵巢发育不全2,也被称为早发性卵巢功能不全4,与白内障1、多种类型和抗利-比克斯勒综合征有关,伴有甾体生成紊乱。与卵巢发育不全2有关的重要基因是BMP15(骨形态发生蛋白15),其相关通路/超级通路包括初级卵巢功能不全和受精。在该疾病的背景下提到了聚乙烯雌酚磷酸盐和雌二醇。附属组织包括卵巢和子宫,相关表型为延迟青春期和原发性闭经。
Related ID:
MALACARDS:OVR076
OMIM:300510
MESH:C564499
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
未知
--
13
70
10
OVR076
Medical Symptom
#
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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