Search Ontology:
Human Disease
multiple epiphyseal dysplasia with myopia and deafness
- Term ID
- DOID:0111348
- Synonyms
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- 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. (2)
- References
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- MESH:C565046
- MIM:132450
- ORDO:166011
- UMLS_CUI:C1851536
- Ontology
- Human Disease ( DOID:0111348 )
- is a type of
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