PedAM
Pediatric Disease Annotations & Medicines
| Disease | melorheostosis |
| Phenotype | C0029455|osteopoikilosis |
| Sentences | 2 |
| PubMedID- 24213376 | These range from muscular dystrophies14-18 to lipodystrophies,19,20 cardiomyopathy,21 neuropathy,22 dermopathy,23 osteopoikilosis (isolated, together with melorheostosis or as a symptom of buschke-ollendorff syndrome),24 dystonia,25-27 and premature aging syndromes.28-30 the new nets identified by proteomics may provide an answer to a conundrum regarding these diseases, namely how can mutations in near ubiquitous proteins in the ne cause diseases restricted to specific tissues? |
| PubMedID- 20618940 | Additionally, osteopoikilosis can coincide with melorheostosis (mro), a more severe bone disease characterised by the ectopic bone formation on the periosteal and endosteal surface of the long bones [4-6]. |
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