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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Most genetic disorders are rare in themselves. [5] [8] Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease.
Pages in category "Genetic diseases and disorders" The following 187 pages are in this category, out of 187 total. This list may not reflect recent changes. ...
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Isolated 17,20-lyase deficiency; 202110; CYP17A1
Legg–Calvé–Perthes disease; Legius syndrome; Leiner's disease; Lelis syndrome; Lemierre's syndrome; Lennox–Gastaut syndrome; Lenz microphthalmia syndrome; Lenz–Majewski syndrome; Leriche's syndrome; Leschke syndrome; Lesch–Nyhan syndrome; Lethal congenital contracture syndrome; Lethal white syndrome
Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons Autosomal dominant GTP cyclohydrolase I deficiency Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Pages in category "Genetic syndromes" The following 164 pages are in this category, out of 164 total. ... Hirschsprung's disease-type D brachydactyly syndrome;
[1] [2] A 2014 update of the classification guide added a 9th category and added 30 new gene defects from the prior 2009 version. [3] [4] The most recent classification was released in 2019. [5] The number of identified conditions continues to grow over time as more research is done.
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