C126813Level 7
Aldosterone Synthase Deficiency
**Semantic type:** Finding
**Definition:** An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting.
**Synonyms:** - Corticosterone Methyl Oxidase Deficiency
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