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Human Disease

Jackson-Weiss syndrome

Term ID
DOID:0111337
Synonyms
  • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
  • JWS
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. (2)
References
Ontology
Human Disease   ( DOID:0111337 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations