| Term Name: | multiple epiphyseal dysplasia 5 |
|---|---|
| Synonyms: | BHMED, bilateral hereditary microepiphyseal dysplasia, EDM5, multiple epiphyseal dysplasia MATN3-related |
| Definition: | A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. |
| Ontology: | Human Disease [DOID:0070299] ( DOID:0070299 ) |