OBO ID: DOID:0111637
Term Name: autosomal recessive nonsyndromic deafness 112 Search Ontology:
Synonyms:
  • autosomal recessive deafness 112
  • DFNB112
Definition: An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. https://www.ncbi.nlm.nih.gov/pubmed/24312468
References:
Ontology: Human Disease   ( DOID:0111637 )
OTHER autosomal recessive nonsyndromic deafness 112 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BDP1 ?Deafness, autosomal recessive 112 618257
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None