Term Name: Camurati-Engelmann disease
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)

Relationships
is a type of: monogenic disease osteosclerosis