DO January 2024 release
This release of the Human Disease Ontology includes 11,501 disease classes, 9,146 with textual definitions (79.5%). Diseases that have been revised and expanded include aniridia, osteosarcomas, distal spinal muscular atrophies, distal hereditary motor neuropathies, peeling skin syndromes, pyridoxine-dependent epilepsies, and Graves disease. New diseases include foveal hypoplasias, developmental dysplasias of the hip, familial focal epilepsies with variable foci, dystonia subtypes, Sifrim-Hitz-Weiss syndrome, cepacia syndrome, round cell sarcoma subtypes, Borrelia miyamotoi disease, PLACK syndrome, familial multiple lipomatosis, and retinal macular dystrophy 2. A number of definitions have additionally been updated with NHGRI sources and xrefs to obsolete EFO terms have been removed.
Full Changelog: v2023-12-20...v2024-01-31