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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