From 157a953904b192b464b05c456f9eb9ddbabba11d Mon Sep 17 00:00:00 2001 From: "github-actions[bot]" Date: Fri, 1 Nov 2024 18:18:30 +0000 Subject: [PATCH] Update RELEASES.md --- RELEASES.md | 27 +++++++++++++++++++++++---- 1 file changed, 23 insertions(+), 4 deletions(-) diff --git a/RELEASES.md b/RELEASES.md index 495c7beb..e4fd0f48 100644 --- a/RELEASES.md +++ b/RELEASES.md @@ -13,14 +13,33 @@ ## 2024 Releases -### [v2024-09-27](https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/v2024-09-27) +### [v2024-11-01](https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/v2024-11-01) -This release of the Human Disease Ontology includes 11,670 disease classes, 9,341 with textual definitions (80.0%). +This release of the Human Disease Ontology includes 11,684 disease classes, 9,358 with textual definitions (80.0%). + +Diseases that have been revised and/or updated with additional subtypes include glycine encephalopathies, FACS, mitochondrial trifunctional protein deficiencies, autosomal dominant isolated macrothrombocytopenias, poor metabolism of thiopurines, retinitis pigmentosa 17, and Axenfeld-Rieger syndrome. -Diseases that have been revised and/or updated include renal glycosuria, autosomal dominant nonsyndromic deafness (DFNA) subtypes, peeling skin syndrome 3, congenital disorders of deglycosylation, 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies', pancreatic ageneses, preaxial polydactylies, thoracic and breast disease classifications, diseases related to neoprene allergy, and hypogonadism. +New diseases include APLAID, striatal degeneration 2, congenital amegakaryocytic thrombocytopenia 2, and rhabdoid tumor predisposition syndrome with subtypes. -New diseases include chromosome 11 partial duplication syndrome, encephalopathy due to defective mitochondrial and peroxisomal fission 2, intellectual disability and myopathy syndrome, bent bone dysplasia syndromes, and digenic dyskeratosis congenita. +This release also includes a new subset focused on childhood cancers `DO_childhood_cancer_slim` and a minor change to the DO_MGI_slim, as well as, expanded chest-related anatomical and onset logical axioms. +**Full Changelog**: https://github.com/DiseaseOntology/HumanDiseaseOntology/compare/v2024-09-27...v2024-11-01 + +| | OWL | OBO | JSON | +| --- | --- | --- | --- | +| Disease Ontology | [doid.owl](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/doid.owl) | [doid.obo](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/doid.obo) | [doid.json](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/doid.json) | +| Human DO | [HumanDO.owl](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/HumanDO.owl) | [HumanDO.obo](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/HumanDO.obo) | | +| DO Non-Classified | [doid-non-classified.owl](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/doid-non-classified.owl) | [doid-non-classified.obo](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/doid-non-classified.obo) | [doid-non-classified.json](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/doid-non-classified.json) | +| DO Merged | [doid-merged.owl](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/doid-merged.owl) | [doid-merged.obo](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2024-11-01/src/ontology/doid-merged.obo) | | + +### [v2024-09-27](https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/v2024-09-27) + +This release of the Human Disease Ontology includes 11,670 disease classes, 9,341 with textual definitions (80.0%). + +Diseases that have been revised and/or updated include renal glycosuria, autosomal dominant nonsyndromic deafness (DFNA) subtypes, peeling skin syndrome 3, congenital disorders of deglycosylation, 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies', pancreatic ageneses, preaxial polydactylies, thoracic and breast disease classifications, diseases related to neoprene allergy, and hypogonadism. + +New diseases include chromosome 11 partial duplication syndrome, encephalopathy due to defective mitochondrial and peroxisomal fission 2, intellectual disability and myopathy syndrome, bent bone dysplasia syndromes, and digenic dyskeratosis congenita. + **Full Changelog**: https://github.com/DiseaseOntology/HumanDiseaseOntology/compare/v2024-08-29...v2024-09-27 | | OWL | OBO | JSON |