Term Name: | multiple epiphyseal dysplasia 2 |
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Synonyms: | EDM2 |
Definition: | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. |
Ontology: | Human Disease [DOID:0070298] ( DOID:0070298 ) |