Term Name: | multiple epiphyseal dysplasia due to collagen 9 anomaly |
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Synonyms: | |
Definition: | A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). |
Ontology: | Human Disease [DOID:0070305] ( DOID:0070305 ) |