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Genetic disorders

Genetic diseases, syndromes, or conditions caused by genetic variations and abnormalities in genes or chromosomes.

Contributors in Genetic disorders

Genetic disorders

angiomyxoma

Health care; Genetic disorders

1) A benign neoplasm derived from connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix, thereby resembling primitive mesenchymal ...

hemangioblastoma

Health care; Genetic disorders

1) A benign tumor of the nervous system that may occur sporadically or in association with Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in ...

angioblastoma

Health care; Genetic disorders

1) A benign tumor of the nervous system that may occur sporadically or in association with Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in ...

bilirubin

Health care; Genetic disorders

1) A bile pigment that is a degradation product of heme. 2) Substance formed when red blood cells are broken down. Bilirubin is part of the bile, which is made in the liver and is stored in the ...

genomic instability

Health care; Genetic disorders

1) A biological process consisting of chromosomal rearrangements and duplications. These phenotypes are often seen in the karyotype of cancer cells, where there is an imbalance between the mechanisms ...

genome instability

Health care; Genetic disorders

1) A biological process consisting of chromosomal rearrangements and duplications. These phenotypes are often seen in the karyotype of cancer cells, where there is an imbalance between the mechanisms ...

birth defect

Health care; Genetic disorders

1) A birth defect is an abnormality present at birth. Also called a congenital defect, it can be caused by a genetic mutation, an unfavorable environment during pregnancy, or a combination of both. ...

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