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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

In OMIM:
OMIM:131300 - CAMURATI-ENGELMANN DISEASE; CAEND
OMIM:606631 - CAMURATI-ENGELMANN DISEASE, TYPE 2

In Mondo Disease Ontology:
MONDO:0007542 - Camurati-Engelmann disease

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): monogenic disease (is_a), osteosclerosis (is_a)