Descriptors Found: 1
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Descriptor English:   Exostoses, Multiple Hereditary 
Descriptor Spanish:   Exostosis Múltiple Hereditaria 
Descriptor Portuguese:   Exostose Múltipla Hereditária 
Synonyms English:   Aclases, Diaphyseal
Aclasis, Diaphyseal
Bessel-Hagen Disease
Cartilaginous Exostoses, Multiple
Cartilaginous Exostosis, Multiple
Chondrodysplasia, Hereditary Deforming
Chondrodysplasias, Hereditary Deforming
Deforming Chondrodysplasia, Hereditary
Deforming Chondrodysplasias, Hereditary
Diaphyseal Aclases
Diaphyseal Aclasis
Exostoses, Familial
Exostoses, Hereditary Multiple
Exostoses, Multiple
Exostoses, Multiple Cartilaginous
Exostoses, Multiple, Type I
Exostosis, Familial
Exostosis, Hereditary Multiple
Exostosis, Multiple
Exostosis, Multiple Cartilaginous
Familial Exostoses
Familial Exostosis
Hereditary Deforming Chondrodysplasia
Hereditary Deforming Chondrodysplasias
Hereditary Exostoses, Multiple
Hereditary Multiple Exostoses
Hereditary Multiple Exostosis
Multiple Cartilaginous Exostoses
Multiple Cartilaginous Exostosis
Multiple Exostoses
Multiple Exostoses, Hereditary
Multiple Exostosis
Multiple Exostosis, Hereditary
Multiple Hereditary Exostoses
Multiple Osteochondroma
Multiple Osteochondromas
Multiple Osteochondromatosis
Osteochondroma, Multiple
Osteochondromas, Multiple  
Tree Number:   C04.557.450.565.575.610.615.325
Definition English:   Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. 
History Note English:   90; was EXOSTOSES, MULTIPLE 1968-89 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
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:   28249 
Unique Identifier:   D005097 

Occurrence in VHL: