| H00445 | |
| H number | H00445 |
| 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 | Congenital malformation |
| Network | - |
| Gene | COL2A1 [HSA:1280] [KO:K19719] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C565740 OMIM: 604864 |
| Reference | PMID:11708863 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) DOI:10.1006/mgme.2001.3250 PMID:2300123 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) DOI:10.1056/NEJM199002223220807 |