OBO ID: DOID:0111643
Term Name: autosomal recessive nonsyndromic deafness 115 Search Ontology:
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
is a type of:
OTHER autosomal recessive nonsyndromic deafness 115 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPNS2 ?Deafness, autosomal recessive 115 618457
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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