Phenotypic match strength

Each phenotype observed in the proband is compared to the phenotypic profile of the selected disease. Based on how closely each proband phenotype matches the disease phenotype profile, a similarity level is assigned.

On the Evidence page and in the Variant page Summary tab, each HPO term listed for the proband is marked with an icon that shows how similar it is to the phenotypes reported for the disease.

Phenotypic similarity levels

Exact match

The proband phenotype is exactly the same as one listed in the disease’s clinical description.

Match by ascendance/descendance

The proband phenotype is a direct ancestor or descendant of a disease phenotype in the Human Phenotype Ontology (HPO) hierarchical tree, up to 7 steps apart.

Indirect match

The proband phenotype lies within a 4-step range in the HPO graph from the disease phenotype but is not its direct ancestor or descendant. While indirect match may highlight potential connections, we advise users to interpret it carefully because it may include phenotypes from different branches of the HPO ontology that are not biologically related.

No match

The proband phenotype does not appear in the disease’s phenotype list and is not connected to it within the range of match by ascendance/descendance and indirect match.