|OBO ID: DOID:0111348|
|Term Name:||multiple epiphyseal dysplasia with myopia and deafness||Search 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. (2)|
|Ontology:||Human Disease (DOID:0111348)|
|is a type of:||
OTHER multiple epiphyseal dysplasia with myopia and deafness PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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