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DO Term : autosomal dominant nonsyndromic deafness 51 [DOID:0110577] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.

synonyms:
autosomal dominant deafness 51,
DFNA51,
chromosome 9q21.11 duplication syndrome,
613558,
ICD10CM:H90.3,
OMIM:613558

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

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