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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. ... This category has the following 5 subcategories, out of 5 total. A. Autosomal dominant disorders (3 C, 211 P)
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 ...
Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities.
List of ICD-9 codes 740–759: congenital anomalies; Rare disease This page was last ... List of congenital disorders. 1 language ...
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.
Hereditary diffuse leukoencephalopathy with spheroids; Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis; HFE H63D gene mutation; Hereditary haemochromatosis; Huntington's disease; Hyperglycerolemia; Hypodysfibrinogenemia; Hypohidrotic ectodermal dysplasia; Hypoplasminogenemia
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