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DeCS
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Descriptor English:
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Chondrodysplasia Punctata
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Descriptor Spanish:
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Condrodisplasia Punctata
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Descriptor Portuguese:
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Condrodisplasia Punctata
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Synonyms English:
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Chondrodystrophia Calcificans Congenita
Stippled Epiphyses
Dysplasia Epiphysialis Punctata
Epiphyses, Stippled
Conradi-Hunermann Syndrome
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Tree Number:
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C05.116.099.708.195
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Definition English:
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A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. |
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Indexing Annotation English:
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spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
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History Note English:
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1985(1964)
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Allowable Qualifiers English:
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Record Number:
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2856
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Unique Identifier:
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D002806
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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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