penetrance - CISMeF

Preferred Label : penetrance;

MeSH definition : The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed);

MeSH annotation : frequency a gene or gene combination is manifested in the phenotype;

Wikipedia link : https://en.wikipedia.org/wiki/Penetrance;

Details

Origin ID

D019683;

UMLS CUI

C0524899;

Automatic exact mappings (from CISMeF team)
- Penetrating (qualifier value) [SNOMED CT concept]
- Penetration [NCIt concept]
- penetrant [IUPAC Term]
- penetrating [SNOMED Notion]
Currated CISMeF NLP mapping
- Penetrance [NCIt concept]
Record concept(s)
- penetrance [MeSH concept]
See also
- anticipation, genetic [MeSH Descriptor]
- genes, modifier [MeSH Descriptor]
Semantic type(s)
- Quantitative Concept [UMLS semantic type]
UMLS correspondences (same concept)
- Penetrance [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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