Genomics and Precision Medicine Clinical Reference Group

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NameWebsite
OMIMhttps://www.omim.org
MONDOhttps://www.ebi.ac.uk/ols/ontologies/mondo
HPO

Useful URL's related to Genomics Terminologies

Human Phenotype Ontology (HPO)
http://human-phenotype-ontology.github.io/documentation.html
Online Mendelian Inheritance of Man (OMIM)
ClinVarhttps://www.ncbi.nlm.
omim.orgHuman Disease
nih.gov/clinvar/
Gene Ontologyhttp://
disease-ontology.org

Genomics and Precision Medicine CRG (info)

Terminologies/classifications linked to the clinical specialty

www.geneontology.org
Orphanethttps://www.orpha.net/consor/cgi-bin/index.php
Clinical Genome Resource (ClinGen)https://clinicalgenome.org



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