Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608389 http://purl.bioontology.org/ontology/OMIM/608389
Preferred Name	BRANCHIOOTIC SYNDROME 3
Synonyms	BO SYNDROME 3 BOS3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BO SYNDROME 3 BOS3
prefLabel	BRANCHIOOTIC SYNDROME 3
Gene Symbol	DFNA23 SIX1 BOS3
Scope Statement	Caused by mutation in the SIX homeobox 1 gene (SIX1, 601205.0001) [MOLECULAR BASIS] Age of onset varies ranging from 3 weeks to 22 years [MISCELLANEOUS] Hearing loss may vary in severity and range between ears [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU049993 http://purl.bioontology.org/ontology/OMIM/MTHU049991 http://purl.bioontology.org/ontology/OMIM/MTHU049996 http://purl.bioontology.org/ontology/OMIM/MTHU049990 http://purl.bioontology.org/ontology/OMIM/MTHU001182 http://purl.bioontology.org/ontology/OMIM/MTHU049994 http://purl.bioontology.org/ontology/OMIM/MTHU030316 http://purl.bioontology.org/ontology/OMIM/MTHU049995 http://purl.bioontology.org/ontology/OMIM/MTHU001183 http://purl.bioontology.org/ontology/OMIM/MTHU049992 See more See less
tui	T047
Gene Locus	14q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608389
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1842124
OMIM Entry Type	3
OMIM MimType Value	pound

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