FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term multiple epiphyseal dysplasia due to collagen 9 anomaly ID (Ontology) DOID:0070305 (Human Disease)
Definition A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).
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osteochondrodysplasia
 |__multiple epiphyseal dysplasia__
genetic disease                    |
 |__monogenic disease______________|
                                   multiple epiphyseal dysplasia due to collagen 9 anomaly
                                    |__multiple epiphyseal dysplasia 2
                                    |__multiple epiphyseal dysplasia 3
                                    |__multiple epiphyseal dysplasia 6
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Is a monogenic disease
multiple epiphyseal dysplasia
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ORDO:166002