Repository for the Human Disease Ontology.
Minor fix to inheritance information in two textual definitions.
If at all possible, DO NOT USE this release; instead, use the early August release v2023-08-08 or later. This release includes accidental IRI duplicates that are not consistent or compatible with previous or future releases. These duplicate disease IRIs were deleted and the diseases re-added with new, unique IRIs in release v2023-08-08.
This release of the Human Disease Ontology includes 11,367 disease classes, 8,996 with textual definitions (79.1%). Updates include revision and addition to disease classifications for carpal tunnel syndromes, mitochondrial complex V deficiency diseases, hereditary spastic paraplegias, xanthinuria diseases, and cone-rod dystrophies, along with corrections to spelling and ICD10CM cross-references.
Full Changelog: https://github.com/DiseaseOntology/HumanDiseaseOntology/compare/v2023-06-29...v2023-07-20
If at all possible, DO NOT USE this release; instead, use the early August release v2023-08-08 or later. This release includes accidental IRI duplicates that are not consistent or compatible with previous or future releases. These duplicate disease IRIs were deleted and the diseases re-added with new, unique IRIs in release v2023-08-08.
DO's June 2023 release. Includes 11,349 disease terms, the addition of 35 new diseases, 42 new SubClassOf axioms. This release includes reformatting of gene symbols in definitions, the addition of mtDNA depletion syndrome subtypes 16-20, retinal macular dystrophy and subtypes, sorbitol dehydrogenase deficiency with peripheral neuropathy, hyperphosphatasia with impaired intellectual development syndrome subtypes, revised nemaline classification and COX deficiency classification, new digenic disease annotations.
If at all possible, DO NOT USE this release; instead, use the early August release v2023-08-08 or later. This release includes accidental IRI duplicates that are not consistent or compatible with previous or future releases. These duplicate disease IRIs were deleted and the diseases re-added with new, unique IRIs in release v2023-08-08.
This release includes 11,314 disease terms and 8,942 textual definitions (79.0%) with added definitions, xrefs, new DO terms and revised classifications. Included are updates for bradyopsia, NBCCS - nevoid basal cell carcinoma syndrome, leukoencephalopathy with vanishing white matter, developmental and epileptic encephalopathy, hypomyelinating leukodystrophy, epidermolytic hyperkeratosis, autosomal recessive spinocerebellar ataxia, Paget's disease of bone, spastic quadriplegic cerebral palsy, spinal muscular atrophy and various myopathies. Added diseases include acrocardiofacial syndrome, Hengel-Maroofian-Schols syndrome, early onset progressive encephalopathy with brain atrophy and thin corpus callosum, Luo-Schoch-Yamamoto syndrome and Pierpont syndrome, along with many others.
This release includes 11,224 disease terms, 8,846 textual definitions, 724 EQ axioms and 8,124 SubClassOf axioms; an increase of 8 new disease terms, 10 new definitions, 2 EQs, 33 SubClassOf axioms. This release included updating of disease names, synonyms and xrefs and associated phenotypes, updates of classifications for frontotemporal dementia, major depressive disorder and related classes and updated COPD definitions, chronic granulomatous, and glycogen storage diseases and hypoglycemia disease annotations and the addition of an axiom to define prion disease, progeria disease subtypes, chronic granulomatous disease 5.
DO February 2023 release: 11,216 disease terms. This release included the addition of new disease terms, definitions and nomenclature updates, and review and updates of rare diseases in the DO, including lymphoma nomenclature updates; the addition of new disease terms: breast implant illness; neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss; myoclonic-atonic epilepsy; oxoglutarate dehydrogenase deficiency; and neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. And the addition of a new DOreport for DO's cancer branch: new DO-ICDO-anatomy DOreport.
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.
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.
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.
This release updates the October release, minor updates to EQ/SubClassOf statements.