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4.2 Database schema4.3 Variant ontology

We use the “Variation Ontology” as ontology for the annotation of variation effects and mechanisms. Currently active terms are represented in following table. Initially we used 85 variant ontology terms. This was extended to include 11 additional terms for non-coding RNA variation. The column ‘use’ depicts the variant ontology terms used for our curation. The column ‘sort’ is used to display the most commonly used ontology terms first.

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4.4 Mode of Inheritance ontology

We use the “Human Phenotype Ontology” as ontology for the mode of inheritance. Currently active terms are represented in following table.

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ReferencesReferences7.1 Reviewer Tutorial7.1 Reviewer Tutorial2.14 Security2.14 Security