DO May 2025 Release

This release of the Human Disease Ontology includes 11,883 disease classes, 9,573 with textual definitions (80.6%). Terms with Spanish translation have increased to include 10,652 labels (89.6%), 11,714 synonyms (60.8%), and 1,280 definitions (13.4%).

Diseases revised and expanded include viral infectious diseases, arteriosclerotic cardiovascular diseases, complex cortical dysplasia with other brain malformations subtypes, infantile hypercalcemia subtypes, spinocerebellar ataxia subtypes, maturity-onset diabetes of the young, congenital diarrhea 7 with exudative enteropathy, congenital secretory chloride diarrhea 1, developmental and epileptic encephalopathy 86, immunodeficiency 36, cerebellar ataxia type 47, and syndromic microphthalmia 2.

Newly added diseases include complex cortical dysplasia with other brain malformations subtypes, infantile hypercalcemia subtypes, cardiovascular-kidney-metabolic syndrome, ragopathy, Pan-Chung-Bellen syndrome, coronary atherosclerosis, and neurodevelopmental disorder with or without autism or seizures.

Full Changelog: v2025-04-29...v2025-05-30