TSHB and hypothyroidism: It turned out that TSHB was present in the disease genes dataset from OMIM, but only for a very specific subtype of hypothyroidism, named ‘hypothyroidism, congenital, nongoitrous 4’, which was assigned to UMLS ID of ‘C0271789’, other than the general “hypothyroidism” followed throughout the study, whose ID was ‘C0020676’.