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Human Disease

autosomal recessive nonsyndromic deafness 115

Term ID
DOID:0111643
Synonyms
  • autosomal recessive deafness 115
  • DFNB115
Definition
An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/30973865
References
Ontology
Human Disease   ( DOID:0111643 )
Relationships
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Genes Involved
Zebrafish Models