OBO ID: DOID:0111635
Term Name: autosomal recessive nonsyndromic deafness 57 Search Ontology:
Synonyms:
  • autosomal recessive deafness 57
  • DFNB57
Definition: An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31. https://www.ncbi.nlm.nih.gov/pubmed/29048736
References:
Ontology: Human Disease   (DOID:0111635)
OTHER autosomal recessive nonsyndromic deafness 57 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PDZD7 Deafness, autosomal recessive 57 618003
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None