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 )

Relationships
is a type of: autosomal dominant disease multiple epiphyseal dysplasia