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| Term | multiple epiphyseal dysplasia with myopia and deafness | ID (Ontology) | DOID:0111348 (Human Disease) |
| Definition | A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. | ||
| Also Known As | "EDMMD" ; "multiple epiphyseal dysplasia, Beighton type" ; "multiple epiphyseal dysplasia-myopia-deafness syndrome" | ||
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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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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| multiple epiphyseal dysplasia with myopia and deafness |
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autosomal dominant disease syndrome |
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MESH:C565046 MIM:132450 ORDO:166011 UMLS_CUI:C1851536 |
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