acrocephalosyndactylia

Summary
Synonym
  • Apert syndrome
Definition
A synostosis that results_in craniosynostosis and syndactyly.
Super Class
synostosis
Disease Ontology
DOID:12960
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2260 FGFR1 fibroblast growth factor receptor 1
2263 FGFR2 fibroblast growth factor receptor 2
7291 TWIST1 twist family bHLH transcription factor 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14182 Fgfr1 fibroblast growth factor receptor 1
14183 Fgfr2 fibroblast growth factor receptor 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25022 Fgfr2 fibroblast growth factor receptor 2
79114 Fgfr1 Fibroblast growth factor receptor 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
39564 btl breathless
42160 htl heartless
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30705 fgfr1a fibroblast growth factor receptor 1a
352940 fgfr2 fibroblast growth factor receptor 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
397782 fgfr1.S fibroblast growth factor receptor 1 S homeolog Xenopus laevis (African clawed frog)
399444 fgfr1.L fibroblast growth factor receptor 1 L homeolog Xenopus laevis (African clawed frog)
548648 fgfr1 fibroblast growth factor receptor 1 Xenopus tropicalis (tropical clawed frog)

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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