Human Phenotype Ontology Resource

Description The Human Phenotype Ontology is a controlled vocabulary of terms describing abnormal human phenotypes that are related to each other in a hierarchical network. Each phenotype is annotated with diseases that cause the phenotypes and, if known, gene mutations that cause the diseases, using curated disease information obtained from OMIM, Orphanet and DECIPHER.
Acronym HPO
External Link


Dataset Description Category Attribute Views
Gene-Disease Associations phenotype-causing gene mutations of human phenotypes from disease knowledgebases disease or phenotype associations phenotype 3698