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branchio-oto-renal syndrome

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
Mondo Term and Equivalent IDs
MONDO:0007029:  branchio-oto-renal syndrome
EFO:1001251: 
GARD:0010147: 
MESH:D019280: 
NCIT:C98983: 
Orphanet:107: 
SCTID:290006: 
UMLS:C0265234: 
UMLS:CN043574: