Biology
- Mutations May Cause Loss-of-function Or Gain-of-function
KEY TERMS:A null mutation completely eliminates the function of a gene. Leaky mutations leave some residual function, for instance when the mutant protein is partially active (in the case of a missense mutation), or when read-through produces a small...
- Osteochondroma
Term: osteochondromaLiterally meaning: ?growth of bones and cartllage?Origin: Anc Greek'ï???[õ?/ostoun(=bone)+???????/chondros (=thick, coarse salt, soft bone, cartilages in the region between the ribs and navel)+(-???)/(-oma)=suffix...
- Dyschondroplasia Or, Chondrodysplasia
Term: dyschodroplasia or, chondrodysplasiaLiterally meaning: ?abnormal cartilage formation?Origin: Anc Greek???-/dys-(=prefix used with a negative sense meaning difficult, bad, abnormal, misfortune)> ???/dyo(=decline) ????/dysi(=sundown)+???????/chondros...
- Hypochondria Etymology
Term: hypochondriaLiterally meaning: ?under the cartilage of the breastbone?Origin: Anc Greek???/hypo (prefix meaning "under", "beneath", "less")+ ???????/chondros (=thick, coarse salt, soft bone, carilages in the region between the ribs and navel)...
- Hypochondria
Term: hypochondriaLiterally meaning: ?under the cartilage of the breastbone?Origin: Anc Greek???/hypo (prefix meaning "under", "beneath", "less")+ ???????/chondros (=thick, coarse salt, soft bone, carilages in the region between the ribs and navel)...
Biology
achondroplasia
Term: achodroplasia
Literally meaning: ?without cartilage formation?
Origin: Anc Greek
?-/a (privative, ?non?)
+???????/chondros (=thick, coarse salt, soft bone, cartilages in the region between the ribs and navel)
+??????/plasso(=to create, to form, to mold)
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Coined/History
The term was coined in 1878, by French physician Joseph Marie Jules Parrot (1829-1883), who also described the Egyptian god Ptah as suffering from achondroplastic dwarfism. The word of ?chondrodystrophy? which was introduced by German physician Edward Kaufmann (1860 - 1931), was used for a long time instead of term ?achondroplasia? in German-speaking countries? .
Definition
Achondroplasia is the a type of short-limbed dwarfism because of reduction in cartilage production and replacement by mucoid regeneration Achodroplasia may be inherited as an autosomal dominant trait due to mutations in FGFR3 gene, although most cases occurs as spontaneous mutations in normal parents.
- Mutations May Cause Loss-of-function Or Gain-of-function
KEY TERMS:A null mutation completely eliminates the function of a gene. Leaky mutations leave some residual function, for instance when the mutant protein is partially active (in the case of a missense mutation), or when read-through produces a small...
- Osteochondroma
Term: osteochondromaLiterally meaning: ?growth of bones and cartllage?Origin: Anc Greek'ï???[õ?/ostoun(=bone)+???????/chondros (=thick, coarse salt, soft bone, cartilages in the region between the ribs and navel)+(-???)/(-oma)=suffix...
- Dyschondroplasia Or, Chondrodysplasia
Term: dyschodroplasia or, chondrodysplasiaLiterally meaning: ?abnormal cartilage formation?Origin: Anc Greek???-/dys-(=prefix used with a negative sense meaning difficult, bad, abnormal, misfortune)> ???/dyo(=decline) ????/dysi(=sundown)+???????/chondros...
- Hypochondria Etymology
Term: hypochondriaLiterally meaning: ?under the cartilage of the breastbone?Origin: Anc Greek???/hypo (prefix meaning "under", "beneath", "less")+ ???????/chondros (=thick, coarse salt, soft bone, carilages in the region between the ribs and navel)...
- Hypochondria
Term: hypochondriaLiterally meaning: ?under the cartilage of the breastbone?Origin: Anc Greek???/hypo (prefix meaning "under", "beneath", "less")+ ???????/chondros (=thick, coarse salt, soft bone, carilages in the region between the ribs and navel)...