Ontology Sources

The following tables detail the ontology sources that TruSight Software 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)

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