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Camurati-Engelmann disease

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
Uniprot Description An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.
Disease Ontology Description An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
Mondo Term and Equivalent IDs
MONDO:0007542:  Camurati-Engelmann disease
GARD:0001072: 
NCIT:C84610: 
Orphanet:1328: 
SCTID:318761000119105: 
UMLS:C0011989: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)