- Concept UI
- M0006211
- 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.
- Terms
-
Camurati-Engelmann Syndrome
Preferred Term
Term UI
T012013
Date11/11/1974
LexicalTag
EPO
ThesaurusID
-
Diaphyseal Dysplasia 1, Progressive
Term UI
T000941400
Date03/22/2018
LexicalTag
NON
ThesaurusID
-
Engelmann's Disease
Term UI
T012016
Date11/11/1974
LexicalTag
EPO
ThesaurusID
-
Progressive Diaphyseal Dysplasia
Term UI
T811498
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Camurati-Engelmann Disease
Term UI
T669457
Date03/24/2006
LexicalTag
EPO
ThesaurusID
-
Diaphyseal Dysplasia, Progressive
Term UI
T012014
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
Diaphyseal Hyperostosis
Term UI
T841055
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Engelmann Disease
Term UI
T012015
Date06/15/1984
LexicalTag
EPO
ThesaurusID