About   Help   FAQ
Disease Ontology Browser
multiple epiphyseal dysplasia with myopia and deafness (DOID:0111348)
Alliance: disease page
Synonyms: EDMMD; multiple epiphyseal dysplasia, Beighton type; multiple epiphyseal dysplasia-myopia-deafness syndrome
Alt IDs: OMIM:132450, MESH:C565046, ORDO:166011, UMLS_CUI:C1851536
Definition: A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory