Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Q89844)
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This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1469259578 |
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| English | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency. |
