branchiootic syndrome

Summary
Synonym
  • BO syndrome
  • BOR
  • branchiootic dysplasia
Definition
A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
Super Class
syndrome
External Links
Disease Ontology
DOID:0060232
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
1109 AKR1C4 aldo-keto reductase family 1 member C4
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1836 SLC26A2 solute carrier family 26 member 2
2539 G6PD glucose-6-phosphate dehydrogenase
2619 GAS1 growth arrest specific 1
2998 GYS2 glycogen synthase 2
4047 LSS lanosterol synthase
4907 NT5E 5'-nucleotidase ecto
5067 CNTN3 contactin 3
9382 COG1 component of oligomeric golgi complex 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