autosomal dominant nonsyndromic deafness 87 Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant nonsyndromic deafness 87 (DOID:0070606)
Alliance: disease page
Synonyms: autosomal dominant deafness 87; DFNA87
Alt IDs: OMIM:620281
Definition: An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21.

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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