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melorheostosis

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Melorheostosis 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.
Disease Ontology Description An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
Mondo Term and Equivalent IDs
MONDO:0007970:  melorheostosis
GARD:0009474: 
MESH:D008557: 
NCIT:C84887: 
Orphanet:2485: 
SCTID:44697002: 
UMLS:C0025239: