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Disease Ontology Browser
multiple epiphyseal dysplasia 5 (DOID:0070299)
Alliance: disease page
Synonyms: BHMED; bilateral hereditary microepiphyseal dysplasia; EDM5; multiple epiphyseal dysplasia MATN3-related
Alt IDs: OMIM:607078, MESH:C535505, ORDO:93311, UMLS_CUI:C1846843
Definition: A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory