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.

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.

Sources:

• Monarch Initiative

  • Doc: MONDO ontology

  • Data: v2022-03-01

• Open Targets - Disease (Experimental Factor Ontology Subset)

  • Doc: https://platform-docs.opentargets.org/disease

  • Data: v24.03

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