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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.
A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality.
Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus parasiticus; Cri du chat syndrome; Cyclopia; Cystic fibrosis
Delayed sleep phase disorder; Delusional misidentification syndrome; Delusional parasitosis; Dennie–Marfan syndrome; Dentomandibular sensorimotor dysfunction; Denys–Drash syndrome; DeSanctis–Cacchione syndrome; Descending perineum syndrome; Diabetic stiff hand syndrome; Dialysis disequilibrium syndrome; Diencephalic syndrome
Medical genetics is the application of genetics to medical care. It overlaps human genetics, for example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part ...
An example of the codominant inheritance of some of the four blood groups. Mendelian traits in humans are human traits that are substantially influenced by Mendelian inheritance . Most – if not all – Mendelian traits are also influenced by other genes, the environment, immune responses, and chance.
Known human disorders include Charcot–Marie–Tooth disease type 1A, which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. Inversions : A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted.
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; List of heart disorders; List of liver ...
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