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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
Macroorchidism
Health care; Genetic disorders
The condition (as in fragile X syndrome) of having large testicles.
Mismatch repair mechanism
Health care; Genetic disorders
The DNA 'proof-reading' system controlled by certain genes that identifies, excises, and corrects errors in the pairing of the bases during DNA replication. Mutations in the genes responsible for ...
Lewy bodies
Health care; Genetic disorders
Filamentous cytoplasmic inclusions of unknown pathogenesis in some brain areas; found in association with several disabling and dementing neurodegenerative disorders.
Epiphysis
Health care; Genetic disorders
The head of a long bone that is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united.
Metaphysis
Health care; Genetic disorders
The transitional zone at which the diaphysis and epiphysis of a bone come together.
High-resolution chromosome studies
Health care; Genetic disorders
Analysis of the number and structure of the chromosomes when cell division has been arrested and the chromosomes stained at an early stage (pro-metaphase) of mitosis. The chromosomes of a high ...