| Term Name: | Camurati-Engelmann disease 2 |
|---|---|
| Synonyms: | |
| Definition: | An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. |
| Ontology: | Human Disease [DOID:0061230] ( DOID:0061230 ) |