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Repository for lectin-assisted multimodality data
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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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11362 | Fibroblast growth factor receptor 1 | |
| P21802 | Fibroblast growth factor receptor 2 |
