DO September 2025 Release
This release of the Human Disease Ontology includes 11,953 disease classes, 9,656 with textual definitions (80.8%). Translation files now include 11,275 labels (94.3%), 11,495 synonyms (59.2%), and 6,401 definitions (66.3%) in Spanish.
Disease groups revised and/or expanded include Usher syndrome type 1, alcohol-associated liver disease, periarthritis, bursitis, congenital myopathy, lymphedema, hyaline body myopathy, and viral infectious disease (many viral species updates thanks to the latest NCBITaxon release).
Additional revisions were made to autosomal recessive intellectual developmental disorder 69, congenital nystagmus 1, giardiasis, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, RENI syndrome, and rigid spine muscular dystrophy 1.
Newly added diseases include congenital variant of Rett syndrome, neonatal inflammatory skin and bowel disease 1, neonatal nephrocutaneous inflammatory syndrome, nephrotic syndrome type 24, and nephrotic syndrome type 26.
Full Changelog: v2025-08-29...v2025-09-30
Obsoleted Diseases
| ID | label | term replaced by | consider | reason |
|---|---|---|---|---|
| DOID:12223 | specific bursitis often of occupational origin | out of scope: generic disease with non-specific qualifier |