Search Ontology:
Human Disease

retinitis pigmentosa-deafness syndrome

Term ID
DOID:0110829
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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