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Disease Ontology Browser
autosomal dominant nonsyndromic deafness 5 (DOID:0110575)
Alliance: disease page
Synonyms: autosomal dominant deafness 5; DFNA5
Alt IDs: OMIM:600994, ICD10CM:H90.3
Definition: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.


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
11/12/2024
MGI 6.24
The Jackson Laboratory