branchiootic syndrome

Term ID

DOID:0060232

Synonyms

• 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. (2)

References

• GARD:10148
• ICD10CM:Q87.0
• MESH:C537104
• OMIM:120502
• OMIM:602588
• OMIM:608389
• ORDO:52429

Ontology

Human Disease   ( DOID:0060232 )