| umls-concept:C0019425 | skos:definition | MSH: An individual having different alleles at one or more loci regarding a specific character.,CSP: having different alleles at one or more loci in homologous chromosome segments.,NCI: Having two different allelic forms of a gene, one inherited from each parent, on each of the two homologous chromosomes.,NCI: Occurs when the two alleles at a particular gene locus are different. A heterozygous genotype may include one normal allele and one mutation, or two different mutations. The latter is called a compound heterozygote. | lld:umls |
