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multiple epiphyseal dysplasia, Beighton type
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness.
Mondo Term and Equivalent IDs
MONDO:0007562: multiple epiphyseal dysplasia, Beighton type
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111348
MESH:C565046
OMIM:132450
Orphanet:166011
SCTID:719689005
MONDO:0007562
High level summary of knowledge for a disease, including descriptions and datasource references.