Statements (10)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:CYP21A2_gene
|
| gptkbp:effect |
gptkb:21-hydroxylase_deficiency
|
| gptkbp:foundIn |
humans
|
| https://www.w3.org/2000/01/rdf-schema#label |
Z282 mutation
|
| gptkbp:mutationAssociatedWith |
point mutation
|
| gptkbp:relatedTo |
congenital adrenal hyperplasia
|
| gptkbp:significance |
can cause salt-wasting form of CAH
|
| gptkbp:bfsParent |
gptkb:R1a
|
| gptkbp:bfsLayer |
6
|