Achondrogenesis-hypochondrogenesis, type II
Achondrogenesis-hypochondrogenesis, type II: See: Achondrogenesis type II.
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The most common form of short stature with disproportionately short limbs — dwarfism with short arms and legs. Achondroplasia is caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3), which is located on chromosome 4 in chromosome band 4p16.3. Aside from short arms and legs, the fingers are short and the ring and […]
- Achoo syndrome
Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing […]
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Achromatopsia: A hereditary disorder of sight due to a lack of cone vision – that type of vision provided by the cone photoreceptors in the retina. In the normal eye, there are some 6 million cone photoreceptors; they are located largely in the center of the retina. Lacking cones, persons with achromatopsia have to rely […]
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Acid deposition: A complex chemical and atmospheric phenomenon that occurs when emissions of sulfur and nitrogen compounds and other substances are transformed by chemical processes in the atmosphere and then deposited on earth in either wet or dry form. The wet forms, popularly called acid rain, can fall to earth as rain, snow, or fog. […]
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Heartburn.