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| Term | multiple epiphyseal dysplasia 3 | ID (Ontology) | DOID:0070304 (Human Disease) |
| Definition | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. | ||
| Also Known As | "EDM3" ; "multiple epiphyseal dysplasia 3 with or without myopathy" | ||
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monogenic disease |__multiple epiphyseal dysplasia due to collagen 9 anomaly__ autosomal genetic disease | |__autosomal dominant disease_______________________________| multiple epiphyseal dysplasia | |__multiple epiphyseal dysplasia due to collagen 9 anomaly__| multiple epiphyseal dysplasia 3 |
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autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly |
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| MIM:600969 | |||