Term Name: | Camurati-Engelmann disease |
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Synonyms: | Diaphyseal dysplasia, Engelman's disease, progressive diaphyseal dysplasia |
Definition: | An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. |
Ontology: | Human Disease [DOID:4997] ( DOID:4997 ) |