Camurati-Engelmann Syndrome
"Camurati-Engelmann Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D003966
|
| MeSH Number(s) |
C05.116.099.708.180 C16.320.144
|
| Concept/Terms |
Camurati-Engelmann Syndrome- Camurati-Engelmann Syndrome
- Camurati Engelmann Syndrome
- Diaphyseal Dysplasia, Progressive
- Diaphyseal Dysplasias, Progressive
- Dysplasia, Progressive Diaphyseal
- Dysplasias, Progressive Diaphyseal
- Diaphyseal Hyperostosis
- Engelmann's Disease
- Progressive Diaphyseal Dysplasia
- Camurati-Engelmann Disease
- Camurati Engelmann Disease
- Engelmann Disease
|
Below are MeSH descriptors whose meaning is more general than "Camurati-Engelmann Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Camurati-Engelmann Syndrome".
This graph shows the total number of publications written about "Camurati-Engelmann Syndrome" by people in this website by year, and whether "Camurati-Engelmann Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 |
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Below are the most recent publications written about "Camurati-Engelmann Syndrome" by people in Profiles.
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The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004 Jun; 74(6):1255-61.