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mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Disease Summary
Associated Targets (1)
Tbio

1


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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
MESH:C565740: 
Orphanet:93279: 
SCTID:254064009: 
UMLS:C1858079: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found