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DO Term : autosomal dominant nonsyndromic deafness 78 [DOID:0112159] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.
  • synonyms:
  • 619081,
  • DFNA78,
  • OMIM:619081
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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