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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.
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.
In fact, the terms 'multifactorial' and 'polygenic' are used as synonyms and these terms are commonly used to describe the architecture of disease causing genetic component. [2] Multifactorial diseases are often found gathered in families yet, they do not show any distinct pattern of inheritance.
Babinski–Nageotte syndrome; Baboon syndrome; Baggio–Yoshinari syndrome; Baller–Gerold syndrome; Bamforth–Lazarus syndrome; Bangstad syndrome; Bannayan–Riley–Ruvalcaba syndrome
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 ...
List of genetic disorders; List of OMIM disorder codes; 0–9. 2q37 monosomy; 3-Hydroxyisobutyryl-CoA deacylase deficiency; 15q overgrowth syndrome; A. ACDC (medicine)
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
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