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Disease Ontology Browser
autosomal recessive nonsyndromic deafness 122 (DOID:0070669)
Alliance: disease page
Synonyms: DFNB122
Alt IDs: OMIM:620714
Definition: An autosomal recessive nonsyndromic deafness characterized by postnatal onset of sensorineural hearing loss, affecting high frequencies first and progressing to deficits in all frequencies, that results in deafness by the second or third decade and has_material_basis_in compound heterozygous mutation in the TMTC4 gene on chromosome 13q32.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/31/2026
MGI 6.24
The Jackson Laboratory