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mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
Uniprot Description Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage.
Mondo Term and Equivalent IDs
MONDO:0011496: mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
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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.
MESH:C565740
OMIM:604864
Orphanet:93279
SCTID:254064009
UMLS:C1858079
MONDO:0011496
High level summary of knowledge for a disease, including descriptions and datasource references.