Achondroplasia
"Achondroplasia" 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 dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
| Descriptor ID |
D000130
|
| MeSH Number(s) |
C05.116.099.343.110 C05.116.099.708.017 C16.320.240.500
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Achondroplasia".
Below are MeSH descriptors whose meaning is more specific than "Achondroplasia".
This graph shows the total number of publications written about "Achondroplasia" by people in UAMS Profiles by year, and whether "Achondroplasia" was a major or minor topic of these publications.
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Below are the most recent publications written about "Achondroplasia" by people in Profiles over the past ten years.