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Disease Ontology Browser
Jackson-Weiss syndrome (DOID:0111337)
Alliance: disease page
Synonyms: craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; JWS
Alt IDs: OMIM:123150, MESH:C537559, NCI:C123814, ORDO:1540, UMLS_CUI:C0795998
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory