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| Term | autosomal dominant keratitis-ichthyosis-deafness syndrome | ID (Ontology) | DOID:0060871 (Human Disease) |
| Definition | A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. | ||
| Also Known As | "autosomal dominant KID syndrome" | ||
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| autosomal dominant keratitis-ichthyosis-deafness syndrome |
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autosomal dominant disease syndrome |
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ICD10CM:Q80.8 MIM:148210 ORDO:477 |
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