eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alkaptonuria |
| Comorbidity | C0022408|arthropathy |
| Sentences | 3 |
| PubMedID- 25034257 | Discussion: the management of ochronotic arthropathy in alkaptonuria patients is usually conservative, but replacement surgery is offered for severely affected hip and knee joints. |
| PubMedID- 25978274 | Research on the arthropathy of the ultra-rare disease alkaptonuria has identified several new features of the oa phenotype, including high density mineralized protrusions (hdmps) which constitute a newly identified mechanism of joint destruction. |
| PubMedID- 26474772 | This further supports the evidence that the arthropathy in alkaptonuria is much more severe and rapidly progressing. |
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