Log In|Sign Up
中文Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (AH2)
Alias:
3 Beta-Hydroxysteroid Dehydrogenase Deficiency
3-Beta-Hsd Deficiency
Adrenal Hyperplasia 2
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Congenital Adrenal Hyperplasia Due to 3 Beta-Hydroxysteroid Dehydrogenase Deficiency
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency
Adrenal Hyperplasia Type Ii
Adrenal Hyperplasia Ii
Ah-Ii
Hsdb
Ah2
Favorite
肾上腺增生，先天性，由于3-β-羟类固醇脱氢酶2缺乏，也称为3-β-羟类固醇脱氢酶缺乏，与3-β-羟类固醇脱氢酶缺乏和ACTH独立性大结节性肾上腺增生2有关。与先天性肾上腺增生，由于3-β-羟类固醇脱氢酶2缺乏有关的重要基因是HSD3B2（羟基-δ-5类固醇脱氢酶，3β-和类固醇δ-异构酶2）。附属组织包括肾上腺和睾丸，相关表型为先天性肾上腺增生和低血压。
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
