For example, there were 6 disease assertions associated with the gene PNPLA6. During the precuration, the GCEP decided to lump the assertions cerebellar ataxia and spastic paraplegia into the term “PNPLA6-related spastic paraplegia with or without ataxia” and lump the terms Boucher-Neuhauser syndrome, Gordon Holmes syndrome, Laurence-Moon syndrome, and Oliver-McFarlane syndrome into the term “retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome.” The GCEP worked closely with Mondo to have these new terms created (MONDO:0100149, MONDO:0100155). Here, PNPLA6 is linked to Ataxia - hypogonadism - choroidal dystrophy.