DO's September 2021 release, contains updated biotin deficiency, dextro-looped transposition of the great arteries, glycogen storage diseases, the addition of the WHO's critical, severe and non-severe COVID-19 terms, classification updates for sexual health disorders and fibromyalgia, additional HPO phenotype axioms, and the addition of RO term object property 'disease has feature', and updated DISDRIV import.
The 100th GitHub Release of the Human Disease Ontology. 10,862 disease terms. 76% (8312) textual definitions. Includes UMLS bi-annual update: new MESH, NCI, SNOMEDCT xrefs. New disease terms including parsley allergy, dill allergy, RNASET2-deficient cystic leukoencephalopathy.
DO's 99th GitHub release: includes 10,855 disease terms (76% with text definitions), 707 EQ and 6,542 SubClassOf disease axioms. Addition of "Disease Drivers" and "Onset" imports; doid-base.owl file, new disease terms including: diffuse large B-cell lymphoma activated B-cell type, diffuse large B-cell lymphoma germinal center B-cell type, autoimmune epilepsy, tuberculous encephalopathy; revised the Cowden classification; replace Relation term: 'located in' with 'disease has location'.
This release includes axiom updates defining anatomy to disease relationships (change from ‘located in’ to ‘disease has location’ usage in the logical axioms); the addition of Ryanodine receptor-1 (RYR1) related disease terms. 10,844 DO disease terms.
DO's May 2021 release. This release includes updates to 115 files, the addition of 23 new DO disease terms, 58 textual definitions and 198 SubClassOf axioms, additional OMIM cross references, defining environmental exposures for alcohol and age of onset.
This release includes 10,791 disease terms with 76% of terms defined - including the addition of 64 new disease terms, 67 textual definitions. and new cross references (OMIM, MeSH, GARD, Orphanet). Updates include: amyloidosis reclassification based on 2020 nomenclature update, polymicrogyria subtypes, sporadic amyotrophic lateral sclerosis, cytochrome P450 oxidoreductase deficiency and chromosomal 7q11.23 microduplication syndrome along with reorganization of the skeletal dysplasias, updated pediatric cancer nomenclature, and additional ICDO codes.
This release includes 10,727 DO disease terms: an increase of 56 diseases; 74 definitions; 76% of DO terms defined; new glioma molecular subtypes; additional cross references and a new DO_RAD_slim.
This release includes 10,671 disease terms, the addition of 23 new diseases, 41 definitions and 211 SubClassOf statements in this release. New terms include glioma molecular subtypes and Bainbridge-Ropers syndrome, axioms defining transmission methods for bacterial infectious diseases and DO's Spring 2021 UMLS update.