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DO Term : autosomal dominant nonsyndromic deafness 1 [DOID:0110541] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.

synonyms:
LFHL1,
Konigsmark syndrome,
ICD10CM:H90.3,
hereditary low frequency hearing loss 1,
DFNA1,
OMIM:124900,
124900,
autosomal dominant deafness 1, with or without thrombocytopenia,
autosomal dominant deafness 1

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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