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Metadata
ID DOID:0060232
Name branchiootic syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/22901925, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract
Xrefs

GARD:10148

ICD10CM:Q87.0

MESH:C537104

OMIM:120502

OMIM:602588

OMIM:608389

ORDO:52429

Subsets

DO_rare_slim

Synonyms

BO syndrome [EXACT]

BOR [EXACT]

branchiootic dysplasia [EXACT]

Parent Relationships

is_a syndrome

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