Term Name: | multiple epiphyseal dysplasia 5 |
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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 ) |