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

  • Doc: https://hpo.jax.org/data/annotation-format

  • 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)