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Camurati-Engelmann Syndrome MeSH Descriptor Data 2023


MeSH Heading
Camurati-Engelmann Syndrome
Tree Number(s)
C05.116.099.708.180
C16.320.144
Unique ID
D003966
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D003966
Scope Note
An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
Entry Term(s)
Camurati-Engelmann Disease
Diaphyseal Dysplasia 1, Progressive
Diaphyseal Dysplasia, Progressive
Diaphyseal Hyperostosis
Engelmann Disease
Engelmann's Disease
Progressive Diaphyseal Dysplasia
Public MeSH Note
2007; see OSTEOCHONDRODYSPLASIAS 1985-1990, see BONE DISEASES, DEVELOPMENTAL 1975-1984
History Note
2007(1975)
Date Established
1991/01/01
Date of Entry
1974/11/11
Revision Date
2018/07/02
Camurati-Engelmann Syndrome Preferred
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