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. 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:

  1. Exact match: same term as in the clinical synopsis of the suspected disease

  2. Match by ascendance - phenotypes share a parent term in the HPO hierarchy

  3. Indirect match - phenotypes are closely related in the HPO hierarchy, but term relatedness is lower than in Match by ascendance

  4. Unmatch - the phenotype is not reported for the suspected disease.

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