Camurati-Engelmann disease 2

Term ID

DOID:0061230

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. https://pubmed.ncbi.nlm.nih.gov/40204055/

References

• MIM:606631

Ontology

Human Disease   ( DOID:0061230 )