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multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Disease Summary
Associated Targets ()
Mondo Description Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.
Mondo Term and Equivalent IDs
MONDO:0012253: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C563736
OMIM:609324
Orphanet:166029
UMLS:C1836315
MONDO:0012253
High level summary of knowledge for a disease, including descriptions and datasource references.