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DO Term : X-linked deafness 5 [DOID:0111741] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1.

synonyms:
OMIM:300614,
X-linked auditory neuropathy with peripheral sensory neuropathy type 1,
AUNX1,
300614,
X-linked auditory neuropathy 1 with peripheral sensory neuropathy,
DFNX5,
X-linked HSAN with deafness,
ORDO:139583

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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