Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
congenital adrenal hyperplasia |
| gptkbp:affects |
adrenal glands
|
| gptkbp:cause |
short stature
infertility electrolyte imbalance aldosterone deficiency androgen excess cortisol deficiency |
| gptkbp:detects |
newborn screening
|
| gptkbp:diagnosedBy |
genetic testing
17-hydroxyprogesterone test |
| gptkbp:firstDescribed |
1950
|
| gptkbp:form |
classic form
non-classic form |
| gptkbp:frequency |
1 in 15,000 live births
|
| https://www.w3.org/2000/01/rdf-schema#label |
21-hydroxylase deficiency
|
| gptkbp:ICD-10_code |
E25.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D006938
|
| gptkbp:mutationAssociatedWith |
gptkb:CYP21A2_gene
|
| gptkbp:OMIM |
201910
|
| gptkbp:prevalence |
most common cause of congenital adrenal hyperplasia
|
| gptkbp:symptom |
hirsutism
salt-wasting crisis precocious puberty ambiguous genitalia |
| gptkbp:treatment |
gptkb:glucocorticoids
mineralocorticoids |
| gptkbp:bfsParent |
gptkb:congenital_adrenal_hyperplasia
gptkb:CYP21A2 |
| gptkbp:bfsLayer |
6
|