Search Ontology:
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
-
- GARD:6796
- MESH:C537559
- MIM:123150
- NCI:C123814
- ORDO:1540
- SNOMEDCT_US_2023_03_01:709105005
- UMLS_CUI:C0795998
- Ontology
- Human Disease ( DOID:0111337 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models