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DeCS
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Descriptor English:
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Exostoses, Multiple Hereditary
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Descriptor Spanish:
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Exostosis Múltiple Hereditaria
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Descriptor Portuguese:
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Exostose Múltipla Hereditária
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Synonyms English:
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Diaphyseal Aclasis
Chondrodysplasia, Hereditary Deforming
Exostoses, Hereditary Multiple
Exostoses, Multiple
Exostoses, Multiple Cartilaginous
Hereditary Multiple Exostoses
Osteochondromas, Multiple
Exostoses, Familial
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Tree Number:
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C04.557.450.565.575.610.615.325
C04.700.330
C05.116.099.708.670.615.325
C05.116.540.310.500
C16.320.700.330
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Definition English:
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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. |
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History Note English:
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90; was EXOSTOSES, MULTIPLE 1968-89
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Allowable Qualifiers English:
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Record Number:
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28249
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Unique Identifier:
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D005097
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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