Allele - CISMeF

Preferred Label : Allele;

NCIt related terms : Alleles;

NCIt definition : Mutually exclusive alternative forms of the same gene occupying the same locus on homologous chromosomes, differing in nucleotide sequence and governing the same biochemical and developmental process.;

Alternative definition : NCI-GLOSS: One of two or more DNA sequences occurring at a particular gene locus. Typically one allele (normal DNA sequence) is common, and other alleles (mutations) are rare.;

NCIt note : Two or more genes are said to be alleles if they occupy the same DNA sequence at a locus on homologous chromosomes.;

Codes from synonyms : CDR0000339337;

Details

Origin ID

C16277;

UMLS CUI

C0002085;

Automatic exact mappings (from CISMeF team)
- Allele name [LOINC component]
- allele information [OBI concept]
Currated CISMeF NLP mapping
- allele [IUPAC Term]
- alleles [MeSH Descriptor]
- alleles [MeSH concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Genetic alleles (finding) [SNOMED CT concept]
- allele [IUPAC Term]
- alleles [MeSH concept]
- alleles [MeSH Descriptor]
- genetic alleles [SNOMED Notion]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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