multiple epiphyseal dysplasia with myopia and deafness

Term ID

DOID:0111348

Synonyms

• 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

• MESH:C565046
• OMIM:132450
• ORDO:166011
• UMLS_CUI:C1851536

Ontology

Human Disease   ( DOID:0111348 )