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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
Premature Ovarian Failure 3 (POF3)
Alias:
Pof3
Ovarian Failure, Premature, Type 3
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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
早发性卵巢功能不全3,也称为pof3,与早发性更年期和早发性卵巢功能不全1有关。与早发性卵巢功能不全3有关的重要基因是FOXL2(叉头盒L2)。在该疾病的背景下,已提到的药物包括聚雌二醇磷酸盐和雌二醇。附属组织包括子宫,相关表型为早发性卵巢功能不全和继发性闭经。
Related ID:
MALACARDS:PRM089
OMIM:608996
MESH:D016649
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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2
27
4
PRM089
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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