KEGG   DISEASE: H00445Help
Entry
H00445                      Disease                                

Name
Osteoarthritis with mild chondrodysplasia
Description
The disease is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen (COL2A1).
Category
Skeletal dysplasia
BRITE hierarchy
Gene
COL2A1 [HSA:1280] [KO:K06236]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:11708863 (description, gene)
  Authors
Mier RJ, Holderbaum D, Ferguson R, Moskowitz R
  Title
Osteoarthritis in children associated with a mutation in the type II procollagen  gene (COL2A1).
  Journal
Mol Genet Metab 74:338-41 (2001)
Reference
PMID:2300123 (description, gene)
  Authors
Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, Jimenez SA, Prockop DJ
  Title
Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.
  Journal
N Engl J Med 322:526-30 (1990)

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