Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skin
heart |
| gptkbp:alsoKnownAs |
Naxos syndrome
|
| gptkbp:characterizedBy |
arrhythmogenic right ventricular cardiomyopathy
palmoplantar keratoderma woolly hair |
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
1986
|
| gptkbp:hasOrphanetID |
ORPHA:988
|
| https://www.w3.org/2000/01/rdf-schema#label |
Naxos disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
JUP gene
|
| gptkbp:namedAfter |
gptkb:Naxos_(Greek_island)
|
| gptkbp:OMIM |
601214
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
sudden cardiac death
ventricular arrhythmias |
| gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
antiarrhythmic drugs |
| gptkbp:bfsParent |
gptkb:DSG2
|
| gptkbp:bfsLayer |
7
|