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Ontology Sources

The following tables detail the ontology sources that BaseSpace Variant Interpreter uses to determine relationships between genes and diseases or phenotypes.

Gene Disease Relationship Resources

Source

Description

HPO

Human Phenotype Ontology

ClinVar

NCBI ClinVar

GeL PanelApp

Genomics England PanelApp

GeneRIF

NCBI Gene Reference Into Function

GTR

NCBI Genetic Testing Registry

OMIM

Online Mendelian Inheritance in Man

Phenopedia

Human Genome Epidemiology (HuGE)

Illumina-Custom

An Illumina ontology based on publicly available ontologies
Phenotype Relationship Resources

Source

Description

HPO

Human Phenotype Ontology

ICD-9

International Classification of Diseases, Ninth Revision

ICD-10

International Classification of Diseases, Tenth Revision

MeSH

Medical Subject Headings

OMIM

Online Mendelian Inheritance in Man

SNOMEDCT

SNOMED Clinical Terms