eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | spondyloepiphyseal dysplasia tarda |
| Comorbidity | C0022408|arthropathy |
| Sentences | 5 |
| PubMedID- 23573089 | Wisp3 gene mutation was shown to cause spondyloepiphyseal dysplasia tarda with progressive arthropathy (srdt-pa), but the underlying mechanism is not clear. |
| PubMedID- 24862418 | spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. |
| PubMedID- 25553839 | Novel wisp3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated chinese families. |
| PubMedID- 21273896 | spondyloepiphyseal dysplasia tarda with progressive arthropathy is characterized by short stature resulting from platyspondylia and progressive arthropathy. |
| PubMedID- 22685593 | Progressive pseudorheumatoid dysplasia (ppd, omim208230), also referred to as spondyloepiphyseal dysplasia tarda with progressive arthropathy (sedt-pa) or progressive pseudorheumatoid arthritis of childhood (ppac), is an autosomal recessive genetic disease. |
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