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This release includes new Axioms for defining disease symptoms, contains 9,480 disease terms, with 68% of terms defined (6472/9480), review and revision of genetic susceptibility terms from OMIM, thus the creation of new DO diseases for psoriasis, epilepsy and febrile seizures. Inheritance axioms have been added across the genetic disease branch to further refine diseases as monogenic, autosomal or X-linked inheritance diseases.
This release includes 9,423 Disease Terms with 68% defined (6414/9423), the inclusions of additional OMIM Phenotype Series (e.g. congenital disorder of glycosylation, LEOPARD syndrome), added 39 new disease terms (e.g. Naxos disease, non-alcoholic fatty liver NAFL), added 42 definitions. The genetic disease branch was further refined, with the inclusion of 'polygenic disease' and 'digenic disease' terms and the addition of SubClassOf definitions to classify genetic disease terms to the more specific monogenic disease subtypes.
The DO's July 2019 release includes a revised classification for early-onset & late onset Parkinson's disease (coordinated with MGI and OMIM), the addition of new OMIM subtypes and term definitions. E.g. Angelman syndrome, leukocyte adhesion deficiency diseases, Boucher-Neuhauser syndrome, geroderma osteodysplasticum, hyaline body myopathy, autosomal recessive hyaline body myopathy, autosomal dominant hyaline body myopathy, isolated sulfite oxidase deficiency and Olive-McFarlane syndrome. This release includes 9,384 DO classes (67% defined: 6372/9384).
June 2019 DO release. The addition of 90 new DO terms, term count = 9358, with 67% of terms defined (6341/9358) terms defined - an addition of 175 text definitions. This release includes the addition of: genetic disease subtypes (e.g. corneal dystrophy, bronchiectasis); revision of Parkinson's major subtypes (juvenile, early); OMIM cross-references; ICDO codes in collaboration with ClinGen and CIViC; new DO terms for MGI; and curation of cross-reference formats.
The May 2019 DO release includes 9,268 disease classes, with 6166/9268 defined (66%).
This month's release includes updates to the mitochondrial depletion and dysfunction syndromes, removal of obsolete OMIM IDs, and new terms requested via DO's GitHub tracker including: thyroid gland anaplastic carcinoma, lung non-squamous non-small cell carcinoma, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; adding missing xrefs and synonyms, e.g. primary coenzyme Q10 deficiency series. Updates to the Disease Ontology for each GitHub commit are documented in:
This release contains (doid.obo file): 9,262 disease terms, 98% with a single is_a parent, 6158/9262 (66%) of terms defined. This release includes the addition of ICD-O xrefs, inferred Y-linked inheritance disease terms, updating of the OMIM susceptibility terms, addition of pediatric cancer terms for ClinGen, addition of disease subtypes (e.g. Meier-Gorlin syndrome, miliaria), new DO terms (e.g. thiamine deficiency syndrome), adding back into DO Equivalent To statements that had disappeared during the file processing, reinstating Nipah virus encephalitis and the addition of OMIM, GARD, Orphanet and MESH IDs based on Wikidata updates.
This release includes data and software updates:
DO website file (doid-non-classified.obo): 9,233 DO terms, 66% (6,118/9233) DO terms defined; 83% with 1 parent, 15 % with 2 parents. doid.owl file: class count: 17,814; SubClassOf class axioms: 21,507; EquivalentClasses class axioms: 684. And the addition of new definitions, fixes to X-linked recessive disease logical definitions, fixes addressing GitHub ticker (dual parentage seen in doid-non-classified.obo/HumanDO.obo file; missing inferred child terms. DO's Makefile and robot.jar file have been enhanced to improve our QC and release process.
Many updates included in this DO release.
Logical definitions have been added across cell and organ cancers.
285 Textual definitions were added. DO term definitions have been increased
to 66% (6102/9332) DO terms (a 4% increase) - as seen in doid.obo.
doid.owl - class count = 17,811, SubClassOf axioms: 20,008, EquivalentClasses: 674,
109 new DO terms, based on OMIM subtype splits.
Many new terms from MGI, Xenbase, PomBase and FlyBase.
The Genotype Ontology (GENO)'s updates have been incorporated into the
DO, thus enabling us to create logical definitions for X-linked DO terms.