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Summary Literature (0)
DOID:0111337 - Jackson-Weiss syndrome

Disease Ontology 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.

Synonyms: JWS, craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome,

Xenbase Genes : fgfr2, fgfr1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)