Term Name: | multiple epiphyseal dysplasia 3 |
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Synonyms: | EDM3, multiple epiphyseal dysplasia 3 with or without myopathy |
Definition: | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. |
Ontology: | Human Disease [DOID:0070304] ( DOID:0070304 ) |