multiple epiphyseal dysplasia, Beighton type
Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits
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Summary
multiple epiphyseal dysplasia, Beighton type is a developmental defect during embryogenesis[1].
Key Facts
- multiple epiphyseal dysplasia, Beighton type's instance of is recorded as developmental defect during embryogenesis[2].
- multiple epiphyseal dysplasia, Beighton type's instance of is recorded as rare disease[3].
- multiple epiphyseal dysplasia, Beighton type's instance of is recorded as class of disease[4].
- multiple epiphyseal dysplasia, Beighton type is a type of type 2 collagen-related bone disorder[5].
- multiple epiphyseal dysplasia, Beighton type is a type of multiple epiphyseal dysplasia[6].
- multiple epiphyseal dysplasia, Beighton type's genetic association is recorded as COL2A1[7].
- multiple epiphyseal dysplasia, Beighton type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_166011[8].