Search on: CAMURATI-ENGELMANN SYNDROME 
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Descriptor English:   Camurati-Engelmann Syndrome 
Descriptor Spanish:   Síndrome de Camurati-Engelmann 
Descriptor Portuguese:   Síndrome de Camurati-Engelmann 
Synonyms English:   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:   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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   3993 
Unique Identifier:   D003966 

Occurrence in VHL:
 
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