Phenotype
Phenotypes are extracted from the Human Phenotype Ontology (HPO). It is a curated ontology for known abnormal phenotypes associated with human disease. In addition, we incorporate the HPO annotations, which supplies are relationship between Genes and Phenotypes.
Sources:
Human Phenotype Ontology (HPO)
Doc: https://hpo.jax.org/
Data: v2024-04-26
HPO - Annotations
Data: v2024-04-26
Concepts
Phenotype
Definition: The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease. The detectable outward manifestations of a specific genotype.
Relationships
(Phenotype)-> phenotype not associated with ->(Disease)
(Phenotype)-> phenotype associated with ->(Disease)
(Phenotype)-> associated with ->(Gene)
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