| Metadata | |
|---|---|
| ID | DOID:0110829 |
| Name | retinitis pigmentosa-deafness syndrome |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1010610007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a autosomal dominant disease is_a Usher syndrome |