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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: craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome, JWS
Xenbase Genes : fgfr2, fgfr1
Other Model Organisms: Alliance, 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)