OBO ID: DOID:0110829
Term Name: retinitis pigmentosa-deafness syndrome Search Ontology:
Synonyms:
Definition: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. https://www.ncbi.nlm.nih.gov/pubmed/10090882
References:
Ontology: Human Disease   ( DOID:0110829 )
OTHER retinitis pigmentosa-deafness syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None