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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 3 with or Without Anosmia (HH3)
Alias:
Kallmann Syndrome 3
Hh3
Hypogonadotropic Hypogonadism, Type 3 with/without Anosmia
Hypogonadotropic Hypogonadism 3 Without Anosmia
Kallmann Syndrome, Type 3, Recessive
Kal3
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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腺功能减退症3型,伴有或不伴有嗅觉丧失,也称为卡曼综合征3型,与伴有或不伴有嗅觉丧失的低促性腺激素性低促性腺激素性腺功能减退症2型和史密斯-麦考特发育不良2型有关。与低促性腺激素性低促性腺激素性腺功能减退症3型有关的重要基因是PROKR2(促动力素受体2)。相关组织包括垂体和嗅球,相关表型为嗅球发育不良和嗅觉减退。
Related ID:
MALACARDS:HYP565
OMIM:244200
MESH:D017436
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
7
21
HYP565
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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