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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
Hypogonadotropic Hypogonadism 12 with or Without Anosmia (HH12)
Alias:
Eunuchoidism, Familial Hypogonadotropic
Gonadotropin Deficiency, Familial Idiopathic
Hh12
Figd
Hypogonadism, Hypogonadotropic, Type 12 with/without Anosmia
Familial Idiopathic Gonadotrpin Deficiency
Familial Hypogonadotrophic Eunuchoidism
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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
低促性腺激素性低促性腺激素性性腺功能减退症12型,伴有或不伴有嗅觉丧失,也称为阉人症候群、家族性低促性腺激素性性腺功能减退症,与伴有或不伴有嗅觉丧失的低促性腺激素性性腺功能减退症2型和戈登·霍姆斯综合征有关。与低促性腺激素性低促性腺激素性性腺功能减退症12型有关的重要基因是GNRH1(促性腺激素释放激素1)。附属组织包括垂体和子宫,相关表型为嗅觉丧失和青春期延迟。
Related ID:
MALACARDS:HYP547
OMIM:614841
MESH:D007006
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
5
12
HYP547
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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