The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Terms in the HPO describes a phenotypic abnormality, such as atrial septal defect.

The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains approximately 11,000 terms and over 115,000 annotations to hereditary diseases.

각 term 마다 연관된 질병, 유전자 현황이 함께 표시됨

Incoming Links #

Related Articles (Article 0) #

• Genotype and phenotype
• Ontology

Related Codes (Code 1) #

• PhenoTips

Suggested Pages #

• 0.125 SnpEff
• 0.078 Pleiotropy
• 0.050 FoodOn
• 0.045 Genetic variation
• 0.038 Environment-wide association study
• 0.036 Copy-number variation
• 0.025 Gene Ontology
• 0.025 Chemical ontology
• 0.025 OWL
• 0.025 Epigenome-wide association studies
• More suggestions...