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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autosomal dominant auditory neuropathy 1
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's subclass of is recorded as autosomal dominant nonsyndromic deafness[4].
- autosomal dominant auditory neuropathy 1's MeSH descriptor ID is recorded as C563790[5].
- autosomal dominant auditory neuropathy 1's OMIM ID is recorded as 609129[6].
- autosomal dominant auditory neuropathy 1's Disease Ontology ID is recorded as DOID:0060690[7].
- autosomal dominant auditory neuropathy 1's genetic association is recorded as DIAPH3[8].
- autosomal dominant auditory neuropathy 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060690[9].
- autosomal dominant auditory neuropathy 1's exact match is recorded as http://identifiers.org/doid/DOID:0060690[10].
- autosomal dominant auditory neuropathy 1's UMLS CUI is recorded as C1836743[11].
- autosomal dominant auditory neuropathy 1's ICD-10-CM is recorded as H90.3[12].
- autosomal dominant auditory neuropathy 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- autosomal dominant auditory neuropathy 1's Mondo ID is recorded as MONDO_0012196[14].
- autosomal dominant auditory neuropathy 1's UniProt disease ID is recorded as DI-03423[15].