January 2023 release Human Disease Ontology
DO's January 2023 release includes 11,207 disease terms, with 8,820 (78.7%) textual definitions. 26 new disease terms, 76 new definitions. This release includes a new DO_infectious_disease_slim; updated xrefs from our bi-annual UMLS update, including all SNOMED_CT xrefs to the latest release; the annotation of trinucleotide repeat expansion disorders, digenic and polygenic disease annotations, a revised VEXAS syndrome, the addition of bronchopulmonary dysplasia and intellectual developmental disorder with ocular anomalies and distinctive facial features, numerous CNS neoplasm terms and their associated ICDO codes.