Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:cause |
mutation in CYP21A2 gene
|
| gptkbp:gene |
gptkb:CYP21A2
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:2101
|
| gptkbp:ICD-10_code |
E25.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:name |
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
| gptkbp:OMIM |
201910
613815 |
| gptkbp:onset |
childhood
neonatal |
| gptkbp:Orphanet_URL |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2101
|
| gptkbp:parent |
gptkb:Congenital_adrenal_hyperplasia
|
| gptkbp:prevalence |
1-9 / 100,000
|
| gptkbp:symptom |
infertility
hirsutism salt-wasting crisis precocious puberty ambiguous genitalia |
| gptkbp:synonym |
gptkb:21-hydroxylase_deficiency
21-OH deficiency CAH due to 21-hydroxylase deficiency |
| gptkbp:treatment |
glucocorticoid replacement
mineralocorticoid replacement surgical correction of genitalia |
| gptkbp:UMLS_CUI |
C0268576
|
| gptkbp:bfsParent |
gptkb:IMAGe_syndrome
|
| gptkbp:bfsLayer |
7
|