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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Jackson-Weiss syndrome | |
| Synonyms |
JWS 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 |
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| alternative label |
JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
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|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:709105005 OMIM:123150 UMLS_CUI:C0795998 MESH:C537559 NCI:C123814 GARD:6796 ORDO:1540
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|
| 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 |
JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
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|
| has material basis in | ||
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0111337
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|
| in_subset | ||
| label |
Jackson-Weiss syndrome
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|
| notation |
DOID:0111337
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|
| note |
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.
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|
| preferred label |
Jackson-Weiss syndrome
|
|
| prefLabel |
Jackson-Weiss syndrome
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| subClassOf |
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