Ovarian Dysgenesis 1 (ODG1)

Alias:
Xx Gonadal Dysgenesis
Gonadal Dysgenesis, Xx Type
Odg1
Xxgd
Ovarian Dysgenesis, Hypergonadotropic, with Normal Karyotype
Ovarian Dysgenesis, Hypergonadotropic, Autosomal Recessive
Hypergonadotropic Ovarian Dysgenesis with Normal Karyotype
Hypergonadotropic Ovarian Dysgenesis Autosomal Recessive
Ovarian Failure, Hypergonadotropic
Hypergonadotropic Ovarian Failure
Dysgenesis, Ovarian, Type 1
Ovarian Failure, Premature
Gonadal Dysgenesis Xx Type
Gonadal Dysgenesis, 46,xx
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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1,也称为xx性腺发育不全,与46xx性腺发育不全和佩罗特综合症1有关,症状包括盆腔疼痛。与卵巢发育不全1有关的重要基因是FSHR(卵泡刺激素受体)。在该疾病的背景下,已提到的药物包括聚乙烯雌酚磷酸盐和雌二醇。附属组织包括卵巢和垂体,相关表型为循环性腺激素水平升高和骨质疏松症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
7
23

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

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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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