VACTERL association

Summary
Definition
A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
Super Class
syndrome
External Links
Disease Ontology
DOID:14679
Mondo Disease Ontology
MeSH
UMLS
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
4968 OGG1 8-oxoguanine DNA glycosylase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5728 PTEN phosphatase and tensin homolog
8809 IL18R1 interleukin 18 receptor 1
55556 ENOSF1 enolase superfamily member 1

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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: August 19, 2024