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Summary Literature (0)
MIM:132450 - EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD

Xenbase Genes: col2a1

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007562 - multiple epiphyseal dysplasia, Beighton type

Disease Ontology (DO):
DOID:0111348 - multiple epiphyseal dysplasia with myopia and deafness