Remarkably, all the phenotype scores were derived from the phenotype match of the HPO-encoded patient’s initial diagnosis with the correct (new) diagnosis in OMIM, i.e., OMIM:614075 (Hermansky-Pudlak syndrome 6) associated with HPS6, OMIM:267750 (Knobloch syndrome, type 1) associated with COL18A1, OMIM:612379 (Congenital disorder of glycosylation, type Iq) associated with SRD5A3, and OMIM:204200 (Ceroid lipofuscinosis, neuronal, 3; Batten disease) associated with CLN3, respectively. The gene discussed is COL18A1; the disease is SRD5A3-congenital disorder of glycosylation.