Chondrodysplasia Punctata, Rhizomelic
"Chondrodysplasia Punctata, Rhizomelic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
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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)
| Descriptor ID |
D018902
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| MeSH Number(s) |
C05.116.099.708.195.200 C16.320.565.663.265 C18.452.648.663.265
|
| Concept/Terms |
Chondrodysplasia Punctata, Rhizomelic- Chondrodysplasia Punctata, Rhizomelic
- Chondrodysplasia Punctatas, Rhizomelic
- Punctata, Rhizomelic Chondrodysplasia
- Punctatas, Rhizomelic Chondrodysplasia
- Rhizomelic Chondrodysplasia Punctatas
- Chondrodysplasia Punctata, Rhizomelic Form
- Rhizomelic Chondrodysplasia Punctata
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