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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

Panniculitis

Health care; Genetic disorders

General term for inflammation of adipose tissue, usually of the skin, characterised by reddened subcutaneous nodules.

Spermatogenesis

Health care; Genetic disorders

Process of formation of spermatozoa including spermatocytogenesis and spermiogenesis.

Brachydactyly

Health care; Genetic disorders

Having abnormally short digits.

Autosomal recessive

Health care; Genetic disorders

Describes a trait or disorder requiring the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 ...

Intermediate allele

Health care; Genetic disorders

In disorders caused by trinucleotide repeat expansions, an abnormally large allele that is not associated with clinical symptoms but that can expand into a full mutation when transmitted to offspring ...

Derivative chromosome

Health care; Genetic disorders

Term used to denote an abnormal chromosome consisting of segments from two or more chromosomes joined together as the result of a translocation, insertion, or other rearrangement.

Homologs

Health care; Genetic disorders

The two chromosomes from a particular pair, normally one inherited from the mother and one from the father, containing the same genetic loci in the same order.

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