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Jackson-Weiss syndrome
Summary
- Synonym
-
- JWS
- craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
- Definition
- A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111337
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 397782 | fgfr1.S | fibroblast growth factor receptor 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 399444 | fgfr1.L | fibroblast growth factor receptor 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 548648 | fgfr1 | fibroblast growth factor receptor 1 | Xenopus tropicalis (tropical clawed frog) |
