Genetic disorders

Genetic disorders

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

Industry: Health care

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Genetic disorders

thrombopenia

Health care; Genetic disorders

1) A decrease in the number of blood platelets. 2) Persistent decrease in the number of blood platelets that is often associated with hemorrhagic conditions -- called also thrombopenia.

deletion map

Health care; Genetic disorders

1) A description of a specific chromosome that uses defined mutations --specific deleted areas in the genome-- as 'biochemical signposts,' or markers for specific areas. 2) The use of overlapping ...

hypospadias

Health care; Genetic disorders

1) A developmental anomaly in the male in which the urethra opens on the underside of the penis or on the perineum. 2) An abnormality of the penis in which the urethra opens on the underside.

hypospadia

Health care; Genetic disorders

1) A developmental anomaly in the male in which the urethra opens on the underside of the penis or on the perineum. 2) An abnormality of the penis in which the urethra opens on the underside.

pedigree

Health care; Genetic disorders

1) A diagram of the genetic relationships and medical history of a family using standardized symbols and terminology. 2) A pedigree is a genetic representation of a family tree that diagrams the ...

1) A disease in which the body does not properly control the amount of sugar in the blood. As a result, the level of sugar in the blood is too high. This disease occurs when the body does not produce ...

ochronosis

Health care; Genetic disorders

1) A disease in which the metabolic products of phenylalanine and tyrosine accumulate, resulting in the deposition of homogentisic acid (a brown-black pigment) in the connective tissue. It occurs in ...