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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 the COL2A1 gene on chromosome 12q13.11.
Synonyms: EDMMD, multiple epiphyseal dysplasia, Beighton type, multiple epiphyseal dysplasia-myopia-deafness syndrome
Xenbase Genes
:
col2a1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)