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Scientists keep track of genes by giving them unique names. Because gene names can be long, genes are also assigned symbols, which are short combinations of letters (and sometimes numbers) that represent an abbreviated version of the gene name. For example, a gene on chromosome 7 that has been associated with cystic fibrosis is called the cystic fibrosis transmembrane conductance regulator; its symbol is CFTR.


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Genetic terms glossaries.

Glossary of Genetics | Glossary of genetic testing terms


* achondroplasia * alpha-1 antitrypsin deficiency
* antiphospholipid syndrome * attention deficit hyperactivity disorder
* autism * autosomal dominant polycystic kidney disease
* breast cancer * charcot-marie-tooth disease
* colon cancer * cri du chat syndrome
* crohn's disease * cystic fibrosis
* dercum disease * down syndrome
* duane syndrome * duchenne muscular dystrophy
* factor v leiden thrombophilia * familial hypercholesterolemia
* familial mediterranean fever * fragile x syndrome
* gaucher disease * hemochromatosis
* hemophilia * holoprosencephaly
* ​huntington's disease * inborn errors of metabolism
* klinefelter syndrome * marfan syndrome
* ​methylmalonic acidemia * myotonic dystrophy
* neurofibromatosis * noonan syndrome
* osteogenesis imperfecta * parkinson's disease
* phenylketonuria * poland anomaly
* porphyria * progeria
* prostate cancer * retinitis pigmentosa
* severe combined immunodeficiency * sickle cell disease
* skin cancer * spinal muscular atrophy
* tay-sachs disease * thalassemia
* trimethylaminuria * turner syndrome
* velocardiofacial syndrome * wilson disease

A-Z of Genetic Diseases (External)


