DOID:0111348 - multiple epiphyseal dysplasia with myopia and deafness
Disease Ontology 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 COL2A1 on chromosome 12q13.11.
Synonyms: EDMMD, multiple epiphyseal dysplasia, Beighton type, multiple epiphyseal dysplasia-myopia-deafness syndrome
|OMIM:132450 - EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : col2a1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD