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

• GARD:4684
• MESH:D052245
• MIM:500004
• NCI:C126329
• ORDO:231183
• SNOMEDCT_US_2023_03_01:1010610007
• UMLS_CUI:C1568248

Ontology

Human Disease   ( DOID:0110829 )