Figure 5. Unified Disease Terminology.
Two-part (“dyadic”) naming comprises both the clinical condition and gene name. An example would be autosomal dominant tubulointerstitial kidney disease (ADTKD), in which ADTKD is followed by reference to the underlying genetic defect, such as ADTKD-UMOD. ADTKD, autosomal dominant tubulointerstitial kidney disease; PKD, polycystic kidney disease.