DO June 2025 Release

This release of the Human Disease Ontology includes 11,895 disease classes, 9,585 with textual definitions (80.6%). Terms with Spanish translation have increased to include 10,837 labels (91.1%), 11,714 synonyms (60.8%), and 2,145 definitions (22.4%).

Diseases revised and expanded include monilethrix diseases, congenital mirror movement disorders, familial isolated hypoparathyroidisms, and congenital ptoses. Additional revisions were made to autosomal dominant limb-girdle muscular dystrophies, autosomal dominant tubulointerstitial kidney diseases, myofibrillar myopathies, viral infectious diseases, autosomal dominant nocturnal frontal lobe epilepsy 4, congenital malabsorptive diarrhea 4, congenital myasthenic syndrome 18, ectodermal dysplasia 14, Fanconi-Bickel syndrome, neonatal-onset type II citrullinemia, visceral heterotaxy 13, and to correct superfluous whitespace in text throughout the ontology.

Newly added diseases include Mulvihill-Smith syndrome and hereditary spastic paraplegia 92.

Obsoleted diseases

ID	label	term replaced by
DOID:0081119	benign familial infantile seizures 6	autosomal dominant nocturnal frontal lobe epilepsy 4 (DOID:0060685)

Full Changelog: v2025-05-30...v2025-06-27