For example, “congenital muscular dystrophy” derived from our sequence-based intersection between “Merosin-Deficient Congenital Muscular Dystrophy Type 1A” (C118783) and “Ullrich Congenital Muscular Dystrophy” (C123438) is an active concept in terminologies such as Online Mendelian Inheritance in Man (OMIM), Human Phenotype Ontology (HPO) and Consumer Health Vocabulary (CHV). The gene discussed is LAMA2; the disease is congenital muscular dystrophy due to LMNA mutation.