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Disease Ontology Browser
autosomal recessive nonsyndromic deafness 118 (DOID:0070672)
Alliance: disease page
Synonyms: DFNB118
Alt IDs: OMIM:619553
Definition: An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its misexpression.

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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Send questions and comments to User Support. 		last database update
03/31/2026
MGI 6.24 		The Jackson Laboratory