Preferred Label : genetic heterogeneity;
MeSH definition : 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);
MeSH synonym : heterogeneity, genetic; genetic heterogeneities; heterogeneities, genetic;
MeSH annotation : DF: GENET HETEROGENEITY;
Origin ID : D018740;
UMLS CUI : C0242960;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
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)
