Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skin
heart hair |
| gptkbp:alsoKnownAs |
Carvajal disease
|
| gptkbp:characterizedBy |
gptkb:dilated_cardiomyopathy
palmoplantar keratoderma woolly hair |
| gptkbp:firstDescribed |
1996
José M. Carvajal |
| https://www.w3.org/2000/01/rdf-schema#label |
Carvajal syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
desmoplakin gene
|
| gptkbp:OMIM |
605676
|
| gptkbp:relatedTo |
gptkb:Naxos_disease
|
| gptkbp:bfsParent |
gptkb:DSG2
|
| gptkbp:bfsLayer |
7
|