Relations in DO

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DO textual definition sentence structure with inclusion of relations:

We would like to use a common sentence structure in DO, for the textual definitions. These will include the relations. The structure of these definitions will include the primary parent, secondary parent and additional specific relations. Including the specific relations in the textual definition will provide a the disease ontology with an increased capability to capture and define relationships in a rigorous and consistent manor and to later transfer these relationships to a logical definition when the software is available.

DO relations with specific use case examples:

Relation Occurs when Example
composed_of component parts of anatomy of tissue made up of certain cell other body area/system or tissue types lymphocytes which is composed_of white blood cells.
located_in anatomical location lung
derives_from type of tissue or cell/the source of the material germ cells
has_symptom symptom(s) associated with disease symptoms
effects disease has effect on other body area/system or tissue anatomical part
has_agent specific pathogen/virus/bacteria/fungi human herpesviris 8 (HHV8)
results_in development process/cause and effect/disease progress,process inflammation, results_in an overwhelming number of tissue mast cells occurs_in peripheral blood
results_in_formation_of formation of structure,cancer,etc./cause and effect granulomas
transmitted_by pathogen is transmitted type of transmission/direct contact, sexual intercourse/indirect contact/vector-borne

Sentence Examples:

disease term: Kaposi's sarcoma

sarcoma [primary parent] that is_a AIDS-related opportunistic infectious disease [secondary parent] has_agent human herpesviris 8 (HHV8). [pathogen]

disease term: Kaposi's sarcoma of the lung

A Kaposi's sarcoma [primary parent] that is located_in lung. [anatomy]

disease term: lymphoid cancer

A hematologic cancer that is located_in lymphocytes which is composed_of white blood cell.

disease term: mast-cell leukemia

A leukemia that is located_in peripheral blood and results_in an overwhelming number of tissue mast cells occurs_in peripheral blood.

disease term: pulmonary tuberculosis

A lung infectious disease that is_a tuberculosis has_agent Mycobacterium tuberculosis located_in lungs and has_symptoms fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice.

disease term: germ cell cancer

A cancer that derives_from germ cells.

disease term: hepatoblastoma

An embyronal cancer that is composed_of tissue resembling fetal or mature liver cells or bile ducts.

disease term: penicilliosis

An opportunistic ascomycota mycosis that has_agent Penicillium marneffei results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.

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