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Metadata
DOID 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

GARD:4684

MESH:D052245

NCI:C126329

OMIM:500004

ORDO:231183

UMLS_CUI:C1568248

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is_a Usher syndrome

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