January 2023 release Human Disease Ontology

DO's January 2023 release includes 11,207 disease terms, with 8,820 (78.7%) textual definitions. 26 new disease terms, 76 new definitions. This release includes a new DO_infectious_disease_slim; updated xrefs from our bi-annual UMLS update, including all SNOMED_CT xrefs to the latest release; the annotation of trinucleotide repeat expansion disorders, digenic and polygenic disease annotations, a revised VEXAS syndrome, the addition of bronchopulmonary dysplasia and intellectual developmental disorder with ocular anomalies and distinctive facial features, numerous CNS neoplasm terms and their associated ICDO codes.

DO's December 2022 Release

This release includes 11,181 disease terms and the addition of ICDO codes for CNS cancers and breast cancers, 36 additional textual definitions and an updated disease name for monkeypox, now mpox.

DO's November release

This release includes 11,171 DO disease terms, with 8,746 terms with textual definitions (78.29%). This build includes 12 new diseases including: pulmonary veno-occlusive disease subtypes, Smith-McCort dysplasia subtypes, Sandestig-Stefanova syndrome, overactive bladder syndrome, graft verus host disease, and several neurodevelopmental disorders. New symptom and phenotype axioms have been added and we have standardized 'has_material_basis_in' in textual definitions.

DO-KB early November release

This release updates the October release, minor updates to EQ/SubClassOf statements.

DO-KB October 2022 Release

This release includes 11,160 Disease Ontology terms along with the addition of skos exact mappings for MeSH xrefs, new disease terms, including: REV3L related disease; intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies; revision of spinocerebellar ataxia type 27; spermatogenic failure, augmentation of the Symptom Ontology logical definitions, new symptom axioms with review of DO-SYMP term overlap, updated SYMP import; and the addition of MeSH xref skos exact mappings & addition of terms to the DO_cancerslim.

DO-KB September 2022 Release

This release of 11,158 disease terms includes expansion of DO's logical axioms defining disease to phenotype, disease to symptom and disease to disease features along with new disease terms (e.g. RCDP type 4, COPA syndrome, peroxisomal biogenesis disorder); enhancement of ICDO codes for CIViC/ClinGen collaboration, cleaning up of duplicate synonyms that differed by capitalization along with a UMLS xref update.

DO's August 2022 Release

DO's August release includes the revision of disease classifications and the addition of new disease terms and xrefs. This release includes 11,137 disease terms which includes the addition of: injection anthrax, 89 autosomal recessive intellectual developmental disorder subtypes, hypotonia, ataxia, and delayed development syndrome and short stature, hearing loss, retinitis pigmentosa, and distinctive facies, Leber congenital amaurosis 19, HMG-CoA synthase 2 deficiency, DeSanto-Shinawi syndrome. This release includes revised classifications/added subtypes: acromesomelic dysplasia, dilated cardiomyopathy, common variable immunodeficiency, agammaglobulinemia, 3-methylglutaconic aciduria, tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia, Mandibuloacral dysplasia, arthrogryposis. This release includes the addition of the annotation property, 'term replaced by': we will now add this annotation to obsolete terms, relating the obsoleted term to the term that it was merged into; and we updated NCBITaxon logical definitions.

DO's July 2022 Release

This release includes the addition of new disease terms, definitions, and xrefs with updates to the SYMP symptom ontology. 11,033 DO disease terms, 9,171 (83%) with textual definitions, over 200 new axioms. New disease terms and their subtypes including hot water epilepsy, keratosis palmoplantaris striata, Baraitser-Winter syndrome, benign familial infantile seizures, Graves ophthalmopathy, inclusion body myopathy and brain white matter abnormalities, Catel Manzke syndrome, X-linked mental retardation Gustavson type, hyperthyroidism, nasal cavity benign neoplasm and spastic paraplegia with deafness; added term replaced by annotation property; definitions for biliary tract benign neoplasm, dental diseases, revised DO imports, augmented SYMP symptom ontology terms.

updated June DO release

Updating DO imports.

DOs early June 2022 release

This release includes a revised diabetes DM1 classification and revision of synonyms for two DO terms.