> For the complete documentation index, see [llms.txt](https://docs.biobox.io/guide/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://docs.biobox.io/guide/data-packages/external-ontologies/disease.md). # Disease A data package that contains objects representing Diseases extracted from classes in the MONDO with inter-ontology axioms. It also includes transformed object properties between classes into real edges across Disease objects. Additionally, we gather EFO ontology equivalences that are cross referenced in the Open Targets project for disease object representations. EFO terms are given higher priority of assignment. {% hint style="warning" %} In situations where there are equivalent terms between EFO and MONDO, it will default to using the EFO term as the primary representation. This means that datasets, reports, and other aspects of your data graph will automatically redirect the edges to the EFO object during all mutations. {% endhint %} **Sources:** * Monarch Initiative * **Doc**: [MONDO ontology](https://mondo.monarchinitiative.org/) * **Data:** [v2022-03-01](http://purl.obolibrary.org/obo/mondo/mondo-with-equivalents.json) * Open Targets - Disease (Experimental Factor Ontology Subset) * **Doc**: * **Data**: [v24.03](https://platform.opentargets.org/downloads) ## Concepts ### Disease **Definition:** A disorder of structure or function, especially one that produces specific signs, phenotypes or symptoms or that affects a specific location and is not simply a direct result of physical injury. A disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. ## Relationships `(Disease) -> is a -> (Disease)` **Definition**: n/a `(Disease) -> has characteristic -> (Disease)` **Definition**: a inverse of the relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. `(Disease) -> predisposes towards -> (Disease)` **Definition**: n/a `(Disease) -> disease has feature -> (Disease)` **Definition**: A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. `(Disease) -> disease arises from feature -> (Disease)` **Definition**: A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. `(Disease) -> disease shares features of -> (Disease)` **Definition**: n/a `(Disease) -> disease has major feature -> (Disease)` **Definition**: n/a `(Disease) -> part of progression of disease -> (Disease)` **Definition**: n/a --- # Agent Instructions This documentation is published with GitBook. GitBook is the documentation platform designed so that both humans and AI agents can read, navigate, and reason over technical content effectively. Learn more at gitbook.com. ## Querying This Documentation If you need additional information that is not directly available in this page, you can query the documentation dynamically by asking a question. Perform an HTTP GET request on the current page URL with the `ask` query parameter, and the optional `goal` query parameter: ``` GET https://docs.biobox.io/guide/data-packages/external-ontologies/disease.md?ask=&goal= ``` `ask` is the immediate question: it should be specific, self-contained, and written in natural language. `goal` is optional and describes the broader end goal you are ultimately trying to accomplish on behalf of the user. GitBook uses it to tailor the answer towards what is most useful for that goal. The response will contain a direct answer to the question and relevant excerpts and sources from the documentation. Use this mechanism when the answer is not explicitly present in the current page, you need clarification or additional context, or you want to retrieve related documentation sections.