Hypergonadotropic Hypogonadism-Cataract Syndrome

Alias:
Lubinsky Syndrome
Amelogenesis Imperfecta Nephrocalcinosis
Hypogonadism-Cataract Syndrome
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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
超促性腺激素性低促性腺激素症-白内障综合征,又称卢宾斯基综合征,与基彭-卢宾斯基综合征、扁头、耳聋、白内障、小口和智力发育障碍有关,症状包括多尿。附属组织包括眼和皮肤,相关表型为白内障和超促性腺激素性低促性腺激素症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
<1/1000000
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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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