Human genes for multiple epiphyseal dysplasia 5
Multiple epiphyseal dysplasia 5 [DOID:0070299]
A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.
Synonyms: multiple epiphyseal dysplasia 5, DOID:0070299, BHMED, bilateral hereditary microepiphyseal dysplasia, EDM5 ...