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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.
Category: Genetic disorders by inheritance. ... Print/export Download as PDF; Printable version; In other projects
Indian Genetic Disease Database; Infantile cerebellar retinal degeneration; Infantile cortical hyperostosis; Inherited thrombotic thrombocytopenic purpura; Intellectual disability-spasticity-ectrodactyly syndrome; Iris hypoplasia with glaucoma; Isolated hyperCKemia
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
List of human disease case fatality rates; List of notifiable diseases - diseases that should be reported to public health services, e.g., hospitals. Lists of plant diseases; List of pollution-related diseases; List of skin conditions; List of diseases by year of discovery; Disorders. List of communication disorders; List of genetic disorders ...
Download as PDF; Printable version; In other projects Wikidata item; Appearance. move to sidebar hide. This is a list of diseases ... Genetic diseases, inborn;
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.
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. As of 28 June 2019 [update] , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes ; the rest represented genes , many of which were ...