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| Term | retinitis pigmentosa-deafness syndrome | ID (Ontology) | DOID:0110829 (Human Disease) |
| 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. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal recessive disease |__Usher syndrome______________ autosomal genetic disease | |__autosomal dominant disease__| syndrome | |__Usher syndrome______________| retinitis pigmentosa-deafness syndrome |
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| Is a |
Usher syndrome autosomal dominant disease |
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External Crossreferences & Linkouts
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GARD:4684 MESH:D052245 MIM:500004 NCI:C126329 ORDO:231183 SNOMEDCT_US_2023_03_01:1010610007 UMLS_CUI:C1568248 |
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