Chondrodysplasia Punctata
"Chondrodysplasia Punctata" 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.
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.
| Descriptor ID |
D002806
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| MeSH Number(s) |
C05.116.099.708.195
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| Concept/Terms |
Chondrodysplasia Punctata- Chondrodysplasia Punctata
- Stippled Epiphyses
- Epiphyses, Stippled
- Chondrodystrophia Calcificans Congenita
- Dysplasia Epiphysialis Punctata
Hunermann-Conradi Syndrome- Hunermann-Conradi Syndrome
- Hunermann Conradi Syndrome
- Conradi-Hunermann Syndrome
- Conradi Hunermann Syndrome
- Conradi Hunermann Happle Syndrome
- Happle Syndrome
- X-Linked Dominant Chondrodysplasia Punctata
- X Linked Dominant Chondrodysplasia Punctata
- X-Linked Chondrodysplasia Punctata 2
- X Linked Chondrodysplasia Punctata 2
- Chondrodysplasia Punctata 2, X-Linked
- Chondrodysplasia Punctata 2, X Linked
- Conradi-Hünermann Syndrome
- Conradi Hünermann Syndrome
- Conradi-Hünermann Syndromes
- Conradi-Hünermann-Happle Syndrome
- Conradi Hünermann Happle Syndrome
- Conradi-Hünermann-Happle Syndromes
- Chondrodysplasia Punctata 2, X-Linked Dominant
- Chondrodysplasia Punctata 2, X Linked Dominant
- Conradi-Hunermann-Happle Syndrome
- Conradi-Hunermann-Happle Syndromes
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Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata".
Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata".
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Below are the most recent publications written about "Chondrodysplasia Punctata" by people in Profiles.
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Phytanic acid alpha-oxidation. Differential subcellular localization in rat and human tissues and its inhibition by nycodenz. J Biol Chem. 1993 May 15; 268(14):9972-9.