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multiple epiphyseal dysplasia with myopia and deafness
Summary
- Synonym
-
- EDMMD
- multiple epiphyseal dysplasia, Beighton type
- multiple epiphyseal dysplasia-myopia-deafness syndrome
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111348
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
