Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:epithelial_sodium_channel
|
| gptkbp:alsoKnownAs |
pseudoaldosteronism
|
| gptkbp:characterizedBy |
hypertension
hypokalemia metabolic alkalosis low aldosterone low plasma renin |
| gptkbp:firstDescribed |
1963
|
| https://www.w3.org/2000/01/rdf-schema#label |
Liddle syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SCNN1B_gene
gptkb:SCNN1G_gene |
| gptkbp:namedAfter |
gptkb:Grant_Liddle
|
| gptkbp:notTreatedWith |
gptkb:spironolactone
|
| gptkbp:OMIM |
177200
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
gptkb:triamterene
gptkb:amiloride |
| gptkbp:bfsParent |
gptkb:NEDD4A
gptkb:Friedrich_Luft gptkb:ENaC gptkb:NEDD4L |
| gptkbp:bfsLayer |
7
|