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Echinobase
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

Echinobase Genes :


MIM:
MIM:131300 - camurati-engelmann disease; caend

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): monogenic disease (is_a), osteosclerosis (is_a)