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ID | DOID:0111751 |
Name | mitochondrial nonsyndromic sensorineural deafness |
Definition | A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. https://www.ncbi.nlm.nih.gov/pubmed/10577941, https://www.ncbi.nlm.nih.gov/pubmed/16650816, https://www.ncbi.nlm.nih.gov/pubmed/17341440, https://www.ncbi.nlm.nih.gov/pubmed/7689389, https://www.ncbi.nlm.nih.gov/pubmed/8019558 |
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