OBO ID: DOID:0111741
Term Name: X-linked deafness 5 Search Ontology:
Synonyms:
  • AUNX1
  • DFNX5
  • X-linked auditory neuropathy 1 with peripheral sensory neuropathy
  • X-linked auditory neuropathy with peripheral sensory neuropathy type 1
  • X-linked HSAN with deafness
Definition: 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. (2)
References:
Ontology: Human Disease   ( DOID:0111741 )
Relationships
is a type of:
OTHER X-linked deafness 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AIFM1 Deafness, X-linked 5 300614
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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