OBO ID: DOID:0111642
Term Name: autosomal recessive nonsyndromic deafness 114 Search Ontology:
Synonyms:
  • autosomal recessive deafness 114
  • DFNB114
Definition: An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/30610177
References:
Ontology: Human Disease   ( DOID:0111642 )
OTHER autosomal recessive nonsyndromic deafness 114 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GRAP Deafness, autosomal recessive 114 618456
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None