You are using an outdated browser. Please upgrade your browser to improve your experience.
multiple epiphyseal dysplasia due to collagen 9 anomaly
Disease Summary
Associated Targets (4)
Tbio
4
Mondo Description Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
Mondo Term and Equivalent IDs
MONDO:0015627: multiple epiphyseal dysplasia due to collagen 9 anomaly
Download Data for multiple epiphyseal dysplasia due to collagen 9 anomaly
data still loading...
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.
DOID:0070305
Orphanet:166002
SCTID:766717008
MONDO:0015627
High level summary of knowledge for a disease, including descriptions and datasource references.