Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/601071
http://purl.bioontology.org/ontology/OMIM/601071
Preferred Name

DEAFNESS, AUTOSOMAL RECESSIVE 9
Synonyms
AUNB1
AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE
AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
DFNB9
NSRD9
NSRAN
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AUNB1
AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE
AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
DFNB9
NSRD9
NSRAN
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prefLabel
DEAFNESS, AUTOSOMAL RECESSIVE 9
Gene Symbol
NSRD9
AUNB1
OTOF
DFNB9
Scope Statement
Congenital onset or onset before 2 years (prelingual) [MISCELLANEOUS]
Caused by mutations in the otoferlin gene (OTOF, 603681.0001) [MOLECULAR BASIS]
Nonsyndromic disorder [MISCELLANEOUS]
type
Has manifestation
tui
T047
Gene Locus
2p23-p22
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
601071
Semantic type UMLS property
Has inheritance type
cui
C1832828
C1832830
OMIM Entry Type
3
OMIM MimType Value
pound
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