Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
skull
feet |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1976
Jackson et al. |
| gptkbp:hasOMIMEntry |
https://www.omim.org/entry/123150
|
| gptkbp:hasOrphanetID |
ORPHA:2327
|
| https://www.w3.org/2000/01/rdf-schema#label |
Jackson-Weiss syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR2_gene
|
| gptkbp:OMIM |
123150
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
craniosynostosis syndromes
|
| gptkbp:symptom |
midface hypoplasia
craniosynostosis broad great toes foot abnormalities |
| gptkbp:treatment |
surgery
|
| gptkbp:bfsParent |
gptkb:FGFR2
|
| gptkbp:bfsLayer |
6
|