OBO ID: DOID:0111348 |
Term Name: | multiple epiphyseal dysplasia with myopia and deafness | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111348 ) |
OTHER multiple epiphyseal dysplasia with myopia and deafness PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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