Associated Phenotype

Associated Phenotypes can be added to any evidence item. Phenotypes are standardizes symptoms or abnormalities that are encountered in human disease (e.g., pheochromocytoma) and each phenotype must be known to the Human Phenotype Ontology database. This field is optional and evidence items can be submitted without associated phenotypes. Associated Phenotypes should provide additional information beyond what is implied by the Disease field. Phenotypes should be particularly considered for Predisposing Evidence Items whereby the variant is associated with a non-binary phenotype or syndrome for a particular genotype.

Curating Associated Phenotypes

Associated Phenotypes field should be curated when the literature or abstract source specifically mentions the given phenotype being observed in a patient with the variant of interest. If the phenotype was seen in a group of patients with related variants, then the Associated Phenotypes field should be left blank. If the curator has knowledge that the given phenotype is often associated with the variant, but this association is not specifically noted in an observed patient being reported in the specific literature source used for creation of the EID, then the Associated Phenotype field should be left blank.