Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
Singleton-Merten syndrome type 1
|
| gptkbp:category |
rare diseases
genetic syndromes |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1973
Singleton and Merten |
| gptkbp:frequency |
very rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Singleton-Merten syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:DDX58_gene
gptkb:IFIH1_gene |
| gptkbp:OMIM |
182250
|
| gptkbp:symptom |
gptkb:bone
muscle weakness dental anomalies abnormal aortic and valvular calcification psoriasiform skin lesions |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:MDA5
gptkb:RIG-I gptkb:IFIH1_gene |
| gptkbp:bfsLayer |
8
|