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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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