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,
which enables searching at various levels of specificity.
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)
MeSH Number(s)
C05.116.099.708.195.200
C16.320.565.663.200
C18.452.648.663.200
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
Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata, Rhizomelic".
Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata, Rhizomelic".
This graph shows the total number of publications written about "Chondrodysplasia Punctata, Rhizomelic" by people in Harvard Catalyst Profiles by year, and whether "Chondrodysplasia Punctata, Rhizomelic" was a major or minor topic of these publication.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 1 | 1 |
Below are the most recent publications written about "Chondrodysplasia Punctata, Rhizomelic" by people in Profiles.
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Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol. Biochem J. 1998 May 15; 332 ( Pt 1):273-9.