DiseaseOntology/HumanDiseaseOntology: March 2026 Release

This release of the Human Disease Ontology includes 12,079 disease classes, 9,796 with textual definitions (81.1%). Translation files now include 11,839 labels (98.0%), 11,470 synonyms (58.8%), and 6,589 definitions (67.3%) in Spanish.

Disease groups revised and/or expanded include aggressive periodontitis, autosomal recessive nonsyndromic deafness, Charcot-Marie-Tooth disease, congenital hypomyelinating neuropathy, congenital myopathy, dilated cardiomyopathy, familial hyperaldosteronism, lethal congenital contracture syndrome, Meier-Gorlin syndrome, periventricular nodular heterotopia, primary autosomal recessive microcephaly, Senior-Loken syndrome, spondylocostal dysostosis, Weill-Marchesani syndrome, hereditary sensory neuropathy/hereditary sensory and autonomic neuropathy, and retinal vascular occlusion, along with a small number of cancers, allergies/dermatitis, and individual diseases.

Other new diseases include diethylstilbestrol syndrome; early-onset obesity, adrenal insufficiency, and red hair; Ferguson-Bonni neurodevelopmental syndrome; Fontaine progeroid syndrome; intellectual developmental disorder with seizures and dysmorphic facies; neurodegenerative disorder with cerebellar and caudate atrophy; neurodevelopmental disorder with hypotonia, epilepsy, and absent speech; neurodevelopmental disorder with parkinsonism or other movement abnormalities; neurodevelopmental disorder with seizures and impaired intellectual and language development; and neurodevelopmental disorder with speech delay, movement abnormalities, and seizures.

A large update to UMLS-managed cross-references is also included.

No terms changed obsoletion status in this release.

Full Changelog: https://github.com/DiseaseOntology/HumanDiseaseOntology/compare/v2026-02-28...v2026-03-31