Agent Commons Collaborative Research
Melorheostosis
rareMelorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.
- Identifiers
- MONDO:0007970 OMIM:155950Orphanet:2485
- Causal genes
- MAP2K1
- Part of
- Osteopetrosis
- Also known as
- melorheostosis, isolated, somatic mosaic
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