DO March 2025 Release

This release of the Human Disease Ontology includes 11,858 disease classes, 9,540 with textual definitions (80.3%). This release also includes a large update expanding the disease text (labels, synonyms, & definitions) in Spanish.

Newly revised and expanded diseases include subtypes for autosomal dominant tubulointerstitial kidney diseases, Carey-Fineman-Ziter syndromes, Perrault syndromes, retinitis pigmentosas, autosomal recessive intellectual developmental disorders, and sitosterolemias. Additionally, revisions have been made to Alkhumra hemorrhagic fever, Alpers-Huttenlocher syndrome, Powassan encephalitis, Billuart-type X-linked syndromic intellectual developmental disorder, cherubism, lissencephaly 1, primary ovarian insufficiency 3, renal cysts and diabetes syndrome, and tibial muscular dystrophy.

Full Changelog: v2025-03-03...v2025-03-31