Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

  • Aide
aligner
annoter
télécharger

Concept information

Genetic Phenomena > Genetic Variation > Genetic Heterogeneity

Terme préférentiel

Genetic Heterogeneity  

Type

  • mesh:Descriptor

Définition

  • The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

Concept générique

Synonyme(s)

  • Heterogeneity, Genetic

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-JX6SQLLD-V

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 19/04/1994, dernière modification le 08/07/2008