Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form

Alias:
Classic 21-Ohd Cah, Salt Wasting Form
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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
经典先天性肾上腺皮质增生症,盐丢失型,也称为经典21-ohd cah,盐丢失型。与经典先天性肾上腺皮质增生症,盐丢失型相关的基因是CYP21A2(细胞色素P450家族21亚家族A成员2)。附属组织包括骨。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-9/100000
1
1
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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