Term Name:	Camurati-Engelmann disease 1
Synonyms:
Definition:	An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that has_material_basis_in domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 19q13.
Ontology:	Human Disease [DOID:0061229]   ( DOID:0061229 )