FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Jackson-Weiss syndrome ID (Ontology) DOID:0111337 (Human Disease)
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.
Also Known As "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" ; "JWS"
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 Genes
 Jackson-Weiss syndrome       2
 for disease ribbon | Jackson-Weiss syndrome       2
 model of | Jackson-Weiss syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Jackson-Weiss syndrome  2 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT
    "JWS" EXACT OMO:0003012
Secondary IDs
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GARD:6796
MESH:C537559
MIM:123150
NCI:C123814
ORDO:1540
SNOMEDCT_US_2023_03_01:709105005
UMLS_CUI:C0795998