monogenic disease osteosclerosis Camurati-Engelmann disease disease_ontology Diaphyseal dysplasia OMIM:131300 UMLS_CUI:C0011989 DOID:4997 MESH:D003966 Xref MGI. OMIM mapping confirmed by DO. [SN]. An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. Engelman's disease OMIM:606631 ICD10CM:Q78.3 SNOMEDCT_US_2020_03_01:34643004 GARD:1072 NCI:C84610 progressive diaphyseal dysplasia