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Summary Literature (0)
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

In OMIM:
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
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)