loading...| Preferred Name |
21-Hydroxylase Deficiency |
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| Synonyms |
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| Definitions |
A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C131087 |
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| ALT_DEFINITION |
Congenital adrenal hyperplasia caused by loss-of-function mutations in the CYP21A2 gene associated with decreased or absent activity of the 21-hydroxylase enzyme, resulting in inefficient steroidogenesis of glucocorticoids and mineralocorticoids. The clinical manifestations of the deficiency are dependent on the degree of reduction of enzymatic activity. |
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| code |
C131087 |
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| Contributing_Source |
NICHD |
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| definition |
A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants. |
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| in_subset | ||
| label |
21-Hydroxylase Deficiency |
|
| Preferred_Name |
21-Hydroxylase Deficiency |
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| prefixIRI |
NCIT:C131087 |
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| prefLabel |
21-Hydroxylase Deficiency |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0852654 |
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| subClassOf |