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loading...| Preferred Name |
Jackson-Weiss syndrome |
| Synonyms |
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111337 |
| database_cross_reference |
ORDO:1540 GARD:6796 SNOMEDCT_US_2022_09_01:709105005 NCI:C123814 UMLS_CUI:C0795998 OMIM:123150 MESH:C537559 |
| 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. |
| has exact synonym |
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome JWS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111337 |
| in_subset | |
| label |
Jackson-Weiss syndrome |
| notation |
DOID:0111337 |
| prefLabel |
Jackson-Weiss syndrome |
| subClassOf |
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