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NBS is caused by a mutation in the NBS1 gene, located at human chromosome 8q21. [9] [10] The disease is inherited in an autosomal recessive manner. [2]This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Alzheimer's disease: AD Attachment disorder: ADD Attention deficit disorder: ADD-RT Attention deficit disorder – residual type ADEM Acute disseminated encephalomyelitis: ADHD Attention deficit hyperactivity disorder: AERD Aspirin exacerbated respiratory disease: AF or A-fib Atrial fibrillation: AGS Aicardi–Goutières syndrome: AH Acquired ...
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.
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
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 ...
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This is an accepted version of this page This is the latest accepted revision, reviewed on 3 February 2025. The following is a list of mental disorders as defined at any point by the Diagnostic and Statistical Manual of Mental Disorders (DSM) or the International Classification of Diseases (ICD). A mental disorder, also known as a mental illness, mental health condition, or psychiatric ...