Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609647 http://purl.bioontology.org/ontology/OMIM/609647
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 46
Synonyms	DFNB46
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB46
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 46
Gene Symbol	DFNB46
Scope Statement	Prelingual onset [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000531 http://purl.bioontology.org/ontology/OMIM/MTHU000530
tui	T047
Gene Locus	18p11.32-p11.31
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	609647
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1864815
OMIM Entry Type	5
OMIM MimType Value	perc

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