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DO Term : autosomal dominant auditory neuropathy 3 [DOID:0112373] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1.
  • synonyms:
  • 619832,
  • AUNA3,
  • OMIM:619832
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents