Preferred Name |
Jackson-Weiss syndrome |
|
Synonyms |
|
|
Definitions |
A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111337 |
|
definition |
A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13. |
|
imported from | ||
label |
Jackson-Weiss syndrome |
|
prefixIRI |
DOID:0111337 |
|
prefLabel |
Jackson-Weiss syndrome |
|
subClassOf |
Create mapping