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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
Aromatase Deficiency (AROD)
Alias:
Congenital Estrogen Deficiency
Placental Aromatase Deficiency
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency
Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency
Oestrogen Synthetase Deficiency
Estrogen Synthetase Deficiency
Arod
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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
芳香化酶缺乏症,又称先天性雌激素缺乏症,与脂质性先天性肾上腺增生和痤疮有关。与芳香化酶缺乏症有关的重要基因是CYP19A1(细胞色素P450家族19亚家族A成员1)。附属组织包括骨和乳腺,相关表型为骨质疏松和骨骼成熟延迟
Related ID:
MALACARDS:ARM001
OMIM:613546
MESH:D008661
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
<1/1000000
2
47
25
ARM001
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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