Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:4997 - Camurati-Engelmann disease


Disease Ontology Definition:An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.

Synonyms: Diaphyseal dysplasia; Engelman's disease; progressive diaphyseal dysplasia

Referenced OMIM:
OMIM:131300 - CAMURATI-ENGELMANN DISEASE; CAEND

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tgfb1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): osteosclerosis (is_a)


Xenbase: The Xenopus laevis and X. tropicalis resource.
Version: 4.11.4


Major funding for Xenbase is provided by grant P41 HD064556