# 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](https://hpo.jax.org/data/ontology)
* HPO - Annotations
  * Doc: <https://hpo.jax.org/data/annotation-format>
  * Data:[ v2024-04-26](https://hpo.jax.org/data/annotations)

## 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)`