autosomal dominant auditory neuropathy 1
autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has material basis in heterozygous mutation in the DIAPH3 gene on chromosome 13q
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Summary
autosomal dominant auditory neuropathy 1 is a head and neck disease[1].
Key Facts
- autosomal dominant auditory neuropathy 1's instance of is recorded as head and neck disease[2].
- autosomal dominant auditory neuropathy 1's instance of is recorded as class of disease[3].
- autosomal dominant auditory neuropathy 1 is a type of autosomal dominant nonsyndromic deafness[4].
- autosomal dominant auditory neuropathy 1's genetic association is recorded as DIAPH3[5].
- autosomal dominant auditory neuropathy 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060690[6].
- autosomal dominant auditory neuropathy 1's exact match is recorded as http://identifiers.org/doid/DOID:0060690[7].
- autosomal dominant auditory neuropathy 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[8].