| Metadata | |
|---|---|
| ID | DOID:0111337 |
| Name | Jackson-Weiss syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/1271196, https://www.ncbi.nlm.nih.gov/pubmed/7874170 |
| Xrefs |
SNOMEDCT_US_2023_03_01:709105005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome [EXACT] JWS [EXACT] |
| Parent Relationships |
is_a syndrome |