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Homozygote
An individual in which both alleles at a given locus are identical.
Year introduced: 1968
Homozygous Familial Hypercholesterolemia
A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age.
Year introduced: 2022
Langer mesomelic dysplasia [Supplementary Concept]
Date introduced: August 25, 2010
Hypotonia-Cystinuria Syndrome [Supplementary Concept]
Date introduced: November 5, 2012
Homozygous 11p15-p14 Deletion Syndrome [Supplementary Concept]