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Descriptor English: Camurati-Engelmann Syndrome
Descriptor Spanish: Síndrome de Camurati-Engelmann
Descriptor Portuguese: Síndrome de Camurati-Engelmann
Descriptor French: Syndrome de Camurati-Engelmann
Entry term(s): Camurati Engelmann Disease
Camurati Engelmann Syndrome
Camurati-Engelmann Disease
Diaphyseal Dysplasia 1, Progressive
Diaphyseal Dysplasia, Progressive
Diaphyseal Dysplasias, Progressive
Diaphyseal Hyperostoses
Diaphyseal Hyperostosis
Dysplasia, Progressive Diaphyseal
Dysplasias, Progressive Diaphyseal
Engelmann Disease
Engelmann's Disease
Hyperostoses, Diaphyseal
Hyperostosis, Diaphyseal
Progressive Diaphyseal Dysplasia
Tree number(s): C05.116.099.708.180
C16.320.144
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2007; see OSTEOCHONDRODYSPLASIAS 1985-1990, see BONE DISEASES, DEVELOPMENTAL 1975-1984
History Note: 2007(1975)
DeCS ID: 3993
Unique ID: D003966
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1974/11/11
Revision Date: 2018/07/02
Camurati-Engelmann Syndrome - Preferred
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.
Preferred term Camurati-Engelmann Syndrome
Entry term(s) Camurati Engelmann Disease
Camurati Engelmann Syndrome
Camurati-Engelmann Disease
Diaphyseal Dysplasia 1, Progressive
Diaphyseal Dysplasia, Progressive
Diaphyseal Dysplasias, Progressive
Diaphyseal Hyperostoses
Diaphyseal Hyperostosis
Dysplasia, Progressive Diaphyseal
Dysplasias, Progressive Diaphyseal
Engelmann Disease
Engelmann's Disease
Hyperostoses, Diaphyseal
Hyperostosis, Diaphyseal
Progressive Diaphyseal Dysplasia



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