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Table 6 Example of five new synonyms improving the performance on the corpus. By lexical difference between the term name and the ascendant term, the method learns new names (shown as ‘generated synonyms’). The column ‘level in the hierarchy’ shows if the hierarchical relationship between the term and the ascendant term is direct (first level) or indirect (second level and so on)

From: A new synonym-substitution method to enrich the human phenotype ontology

HPO ID

Term name

Ascendant term name

Ascendant synonym

Level in the hierarchy

Generated synonym

HP:0100019

Cortical cataract

Cataract

Lens opacities

Second

Cortical lens opacities

HP:0008069

Neoplam of the skin

Neoplasm

Cancer

Second

Cancer of the skin

HP:0012715

Profound hearing impairment

Hearing impairment

Hearing loss

First

Profound hearing loss

HP:0007270

Atypical absence seizures

Seizures

Epilepsy

Fourth

Atypical absence epilepsy

0000122

Unilateral renal aplasia

Renal agenesis

Renal aplasia

First

Unilateral renal agenesis