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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
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency (MPH)
Alias:
Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency
Pseudohermaphroditism, Male, with Gynecomastia
17-Ksr Deficiency
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
17-Ketosteroid Reductase Deficiency of Testis
Testosterone 17-Beta-Dehydrogenase Deficiency
17-Ketosteroidreductase Deficiency
17-Ketoreductase Deficiency
46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
46,xy Difference of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3
Hydroxysteroid Dehydrogenase Iii Deficiency
Male Pseudohermaphroditism with Gynecomastia
Pseudohermaphroditism Male with Gynecomastia
Male Pseudohermaphrodism with Gynecomastia
17-Hydroxysteroid Dehydrogenase Deficiency
Mph
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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
17-β类固醇脱氢酶III缺乏症,又称中性17-β类固醇氧化还原酶缺乏症,与包皮过长和男性乳房发育有关。与17-β类固醇脱氢酶III缺乏症相关的基因是HSD17B3(类固醇17-β脱氢酶3),其相关通路/超级通路包括类固醇代谢和类固醇激素代谢。附属组织包括前列腺和睾丸,相关表型包括隐睾和低促性腺激素性低促性腺激素。
Related ID:
MALACARDS:17B003
OMIM:264300
MESH:D058490
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-9/1000000
6
50
33
17B003
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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