|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Camurati-Engelmann Syndrome
|
|
Descriptor Spanish:
|
|
Síndrome de Camurati-Engelmann
|
|
Descriptor Portuguese:
|
|
Síndrome de Camurati-Engelmann
|
|
Synonyms English:
|
|
Camurati-Engelmann Disease
Diaphyseal Hyperostosis
Engelmann Disease
Progressive Diaphyseal Dysplasia
Camurati Engelmann Disease
Camurati Engelmann Syndrome
Diaphyseal Dysplasias, Progressive
Dysplasia, Progressive Diaphyseal
Dysplasias, Progressive Diaphyseal
Diaphyseal Dysplasia, Progressive
Engelmann's Disease
|
|
Tree Number:
|
|
C05.116.099.708.180
C16.320.144
|
|
Definition English:
|
|
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. |
|
History Note English:
|
|
2007(1975)
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
3993
|
|
Unique Identifier:
|
|
D003966
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS CID-10 SciELO LILACS LIS
|