OBO ID: DOID:0110521
Term Name: autosomal recessive nonsyndromic deafness 70 Search Ontology:
Synonyms:
  • autosomal recessive deafness 70
  • DFNB70
Definition: An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. https://www.ncbi.nlm.nih.gov/pubmed/23084290
References:
Ontology: Human Disease   ( DOID:0110521 )
OTHER autosomal recessive nonsyndromic deafness 70 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNPT1 Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None