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Disease Ontology Browser
Camurati-Engelmann disease (DOID:4997)
Alliance: disease page
Synonyms: Diaphyseal dysplasia; Engelman's disease; progressive diaphyseal dysplasia
Alt IDs: OMIM:131300, OMIM:606631, ICD10CM:Q78.3, MESH:D003966, NCI:C84610, UMLS_CUI:C0011989
Definition: An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory