Referring to a trait or disorder requiring the presence of biallelic pathogenic variants (i.e., homozygous or compound heterozygous variants) at a particular locus in order to express an observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes)

Related terms: allele frequency; carrier; carrier testing; compound heterozygous; consanguineous; heterozygote; homozygous; mode of inheritance