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| Term | ocular albinism with sensorineural deafness | ID (Ontology) | DOID:0090100 (Human Disease) |
| Definition | An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. | ||
| Also Known As | "autosomal recessive Waardenburg syndrome type 2 with ocular albinism" ; "digenic Waardenburg syndrome/albinism" ; "digenic Waardenburg syndrome/ocular albinism" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal dominant disease__ polygenic disease | |__digenic disease_____________| eye disease | |__ocular albinism 1___________| ocular albinism with sensorineural deafness |
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ocular albinism 1 autosomal dominant disease digenic disease |
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ICD10CM:E70.3 ORDO:352740 |
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