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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 FGFR2 on chromosome 10q26.13.

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

Referenced OMIM:
OMIM:123150 - JACKSON-WEISS SYNDROME; JWS

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : fgfr2, fgfr1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)


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Version: 4.14.0
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