Phenotypic match strength

On the Evidence page, each proband's phenotype is marked according to the degree of similarity to the phenotypes observed in the genetic condition presumably associated with a variant under review.

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Phenotypic match strength levels:

Exact match

Same term as in the clinical synopsis of the suspected disease

Match by ascendance

Phenotypes share a parent term in the HPO hierarchy

Indirect match

Phenotypes are closely related in the HPO hierarchy, but term relatedness is lower than in Match by ascendance

Unmatch

The phenotype is not reported for the suspected disease.

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Each phenotypic match strength level is denoted by a particular icon next to the HPO term in the Case info tab of the Case details panel: