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DeCS
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Descriptor English:
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Chondrodysplasia Punctata, Rhizomelic
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Descriptor Spanish:
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Condrodisplasia Punctata Rizomélica
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Descriptor Portuguese:
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Condrodisplasia Punctata Rizomélica
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Synonyms English:
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Chondrodysplasia Punctata, Rhizomelic Form
Chondrodysplasia Punctatas, Rhizomelic
Punctata, Rhizomelic Chondrodysplasia
Punctatas, Rhizomelic Chondrodysplasia
Rhizomelic Chondrodysplasia Punctata
Rhizomelic Chondrodysplasia Punctatas
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Tree Number:
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C05.116.099.708.195.200
C16.320.565.663.265
C18.452.648.663.265
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Definition English:
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An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497) |
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Indexing Annotation English:
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a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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History Note English:
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1996
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Allowable Qualifiers English:
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Record Number:
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32807
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Unique Identifier:
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D018902
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Occurrence in VHL:
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Similar:
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DeCS
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