Term Name:	multiple epiphyseal dysplasia with myopia and deafness
Synonyms:	EDMMD, multiple epiphyseal dysplasia, Beighton type, multiple epiphyseal dysplasia-myopia-deafness syndrome
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.
Ontology:	Human Disease [DOID:0111348]   ( DOID:0111348 )