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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
Oocyte/zygote/embryo Maturation Arrest 7 (OZEMA7)
Alias:
Oocyte Maturation Defect 7
Ozema7
Oomd7
Oocyte Maturation Defect, Type 7
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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
卵母细胞/受精卵/胚胎成熟停滞7,也被称为卵母细胞成熟缺陷7。与卵母细胞/受精卵/胚胎成熟停滞7相关的基因是PANX1(Pannexin 1)。相关表型是女性不育和卵母细胞死亡增加。
Related ID:
MALACARDS:OCY023
OMIM:618550
MESH:D007247
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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1
14
1
OCY023
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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