branchiootorenal syndrome

Summary
Synonym
  • Branchio-Oto-renal syndrome
  • Branchio-otorenal dysplasia
  • Melnick-Fraser syndrome
  • branchiootorenal dysplasia
Definition
A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:14702
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
2070 EYA4 EYA transcriptional coactivator and phosphatase 4
2140 EYA3 EYA transcriptional coactivator and phosphatase 3
6495 SIX1 SIX homeobox 1
51804 SIX4 SIX homeobox 4
147912 SIX5 SIX homeobox 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14051 Eya4 EYA transcriptional coactivator and phosphatase 4
20474 Six4 sine oculis-related homeobox 4

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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