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Standards Ontologies Notations
Saethre-Chotzen syndrome

Summary
Definition
An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
Super Class
acrocephalosyndactylia autosomal dominant disease
Disease Ontology
DOID:14768
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2263 FGFR2 fibroblast growth factor receptor 2
7291 TWIST1 twist family bHLH transcription factor 1
117581 TWIST2 twist family bHLH transcription factor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
14183 Fgfr2 fibroblast growth factor receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
25022 Fgfr2 fibroblast growth factor receptor 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
39564 btl breathless
42160 htl heartless
Displaying 1 entry
Gene ID Gene Symbol Description Source
352940 fgfr2 fibroblast growth factor receptor 2
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024